CleftGeneDB-Search

Gene: QSOX1

Basic information

Tag	Content
Uniprot ID	O00391; Q59G29; Q5T2X0; Q8TDL6; Q8WVP4;
Entrez ID	5768
Genbank protein ID	AAQ89300.1; AAC09010.2; AAM00263.1; AAI00024.1; BAD92517.1; AAH17692.1;
Genbank nucleotide ID	NM_001004128.2; NM_002826.4;
Ensembl protein ID	ENSP00000356574; ENSP00000356572;
Ensembl nucleotide ID	ENSG00000116260
Gene name	Sulfhydryl oxidase 1
Gene symbol	QSOX1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Catalyzes the oxidation of sulfhydryl groups in peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide (PubMed:17331072, PubMed:18393449, PubMed:23704371, PubMed:30367560, PubMed:23867277). Plays a role in disulfide bond formation in a variety of extracellular proteins (PubMed:17331072, PubMed:30367560, PubMed:22801504, PubMed:23867277). In fibroblasts, required for normal incorporation of laminin into the extracellular matrix, and thereby for normal cell-cell adhesion and cell migration (PubMed:23704371, PubMed:30367560, PubMed:23867277).
Sequence	MRRCNSGSGP PPSLLLLLLW LLAVPGANAA PRSALYSPSD PLTLLQADTV RGAVLGSRSA 60 WAVEFFASWC GHCIAFAPTW KALAEDVKAW RPALYLAALD CAEETNSAVC RDFNIPGFPT 120 VRFFKAFTKN GSGAVFPVAG ADVQTLRERL IDALESHHDT WPPACPPLEP AKLEEIDGFF 180 ARNNEEYLAL IFEKGGSYLG REVALDLSQH KGVAVRRVLN TEANVVRKFG VTDFPSCYLL 240 FRNGSVSRVP VLMESRSFYT AYLQRLSGLT REAAQTTVAP TTANKIAPTV WKLADRSKIY 300 MADLESALHY ILRIEVGRFP VLEGQRLVAL KKFVAVLAKY FPGRPLVQNF LHSVNEWLKR 360 QKRNKIPYSF FKTALDDRKE GAVLAKKVNW IGCQGSEPHF RGFPCSLWVL FHFLTVQAAR 420 QNVDHSQEAA KAKEVLPAIR GYVHYFFGCR DCASHFEQMA AASMHRVGSP NAAVLWLWSS 480 HNRVNARLAG APSEDPQFPK VQWPPRELCS ACHNERLDVP VWDVEATLNF LKAHFSPSNI 540 ILDFPAAGSA ARRDVQNVAA APELAMGALE LESRNSTLDP GKPEMMKSPT NTTPHVPAEG 600 PEASRPPKLH PGLRAAPGQE PPEHMAELQR NEQEQPLGQW HLSKRDTGAA LLAESRAEKN 660 RLWGPLEVRR VGRSSKQLVD IPEGQLEARA GRGRGQWLQV LGGGFSYLDI SLCVGLYSLS 720 FMGLLAMYTY FQAKIRALKG HAGHPAA 747

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
3LLI
3LLK
3Q6O
4IJ3
3LLI
3LLK
3Q6O

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	QSOX1		A0A5F4CZM1		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	QSOX1		A0A452FQZ4		Capra hircus	Prediction	More>>
1:1 ortholog	QSOX1	5768	O00391		Homo sapiens	Prediction	More>>
1:1 ortholog	Qsox1	104009	Q8BND5	CPO	Mus musculus	Publication	More>>
1:1 ortholog	QSOX1	457558	K7DF20		Pan troglodytes	Prediction	More>>
1:1 ortholog	QSOX1		F1S682		Sus scrofa	Prediction	More>>
1:1 ortholog	QSOX1	100350171	G1SND0		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Qsox1	84491	Q6IUU3		Rattus norvegicus	Prediction	More>>
1:1 ortholog	qsox1	100004382	B0UXN0		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1227571483	p.Arg2Lys	missense variant	-	NC_000001.11:g.180154912G>A	TOPMed,gnomAD
rs1373773729	p.Arg2Trp	missense variant	-	NC_000001.11:g.180154911A>T	TOPMed,gnomAD
rs1272286332	p.Arg3Lys	missense variant	-	NC_000001.11:g.180154915G>A	TOPMed,gnomAD
rs1159636176	p.Arg3Gly	missense variant	-	NC_000001.11:g.180154914A>G	TOPMed
rs1051847014	p.Asn5Lys	missense variant	-	NC_000001.11:g.180154922C>A	TOPMed,gnomAD
rs745612653	p.Ser6Ile	missense variant	-	NC_000001.11:g.180154924G>T	ExAC,TOPMed,gnomAD
rs10913933	p.Gly7Ser	missense variant	-	NC_000001.11:g.180154926G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs10913933	p.Gly7Arg	missense variant	-	NC_000001.11:g.180154926G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1385964622	p.Gly9Arg	missense variant	-	NC_000001.11:g.180154932G>A	TOPMed,gnomAD
rs1248638806	p.Gly9Glu	missense variant	-	NC_000001.11:g.180154933G>A	TOPMed
rs1385964622	p.Gly9Trp	missense variant	-	NC_000001.11:g.180154932G>T	TOPMed,gnomAD
rs980913670	p.Pro10Arg	missense variant	-	NC_000001.11:g.180154936C>G	TOPMed,gnomAD
rs1230185669	p.Pro11Ser	missense variant	-	NC_000001.11:g.180154938C>T	gnomAD
rs763224419	p.Pro12Leu	missense variant	-	NC_000001.11:g.180154942C>T	ExAC,TOPMed,gnomAD
rs1319604898	p.Ser13Leu	missense variant	-	NC_000001.11:g.180154945C>T	TOPMed
rs1275491308	p.Leu14Pro	missense variant	-	NC_000001.11:g.180154948T>C	gnomAD
rs768705604	p.Leu14Val	missense variant	-	NC_000001.11:g.180154947C>G	ExAC,gnomAD
rs1400547705	p.Leu15Met	missense variant	-	NC_000001.11:g.180154950C>A	TOPMed
rs561867513	p.Leu17Val	missense variant	-	NC_000001.11:g.180154956C>G	1000Genomes,TOPMed
rs774355860	p.Leu18Arg	missense variant	-	NC_000001.11:g.180154960T>G	ExAC,TOPMed,gnomAD
rs1430407366	p.Leu19Val	missense variant	-	NC_000001.11:g.180154962C>G	TOPMed,gnomAD
rs1003043623	p.Trp20Arg	missense variant	-	NC_000001.11:g.180154965T>C	TOPMed
rs1035407004	p.Ala23Pro	missense variant	-	NC_000001.11:g.180154974G>C	TOPMed,gnomAD
rs1035407004	p.Ala23Thr	missense variant	-	NC_000001.11:g.180154974G>A	TOPMed,gnomAD
rs767868738	p.Ala23Val	missense variant	-	NC_000001.11:g.180154975C>T	ExAC,TOPMed,gnomAD
rs1386272100	p.Val24Ile	missense variant	-	NC_000001.11:g.180154977G>A	gnomAD
rs1386427364	p.Gly26Val	missense variant	-	NC_000001.11:g.180154984G>T	TOPMed,gnomAD
rs1289097660	p.Gly26Ser	missense variant	-	NC_000001.11:g.180154983G>A	gnomAD
rs1311788074	p.Ala27Gly	missense variant	-	NC_000001.11:g.180154987C>G	gnomAD
rs80203913	p.Ala29Val	missense variant	-	NC_000001.11:g.180154993C>T	NCI-TCGA
rs80203913	p.Ala29Val	missense variant	-	NC_000001.11:g.180154993C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1234497818	p.Ala30Gly	missense variant	-	NC_000001.11:g.180154996C>G	gnomAD
rs1234497818	p.Ala30Val	missense variant	-	NC_000001.11:g.180154996C>T	gnomAD
rs1270799822	p.Pro31Ser	missense variant	-	NC_000001.11:g.180154998C>T	TOPMed
rs550709452	p.Arg32Trp	missense variant	-	NC_000001.11:g.180155001C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1315508178	p.Arg32Gln	missense variant	-	NC_000001.11:g.180155002G>A	TOPMed,gnomAD
rs1315508178	p.Arg32Leu	missense variant	-	NC_000001.11:g.180155002G>T	TOPMed,gnomAD
rs1315508178	p.Arg32Pro	missense variant	-	NC_000001.11:g.180155002G>C	TOPMed,gnomAD
rs1208790761	p.Tyr36Cys	missense variant	-	NC_000001.11:g.180155014A>G	TOPMed,gnomAD
rs1208790761	p.Tyr36Phe	missense variant	-	NC_000001.11:g.180155014A>T	TOPMed,gnomAD
rs1256975151	p.Asp40Tyr	missense variant	-	NC_000001.11:g.180155025G>T	gnomAD
rs1028409575	p.Pro41Thr	missense variant	-	NC_000001.11:g.180155028C>A	TOPMed,gnomAD
rs766892057	p.Pro41Gln	missense variant	-	NC_000001.11:g.180155029C>A	ExAC,gnomAD
rs1409413780	p.Thr43Met	missense variant	-	NC_000001.11:g.180155035C>T	gnomAD
rs1428651705	p.Ala47Val	missense variant	-	NC_000001.11:g.180155047C>T	TOPMed
rs974988938	p.Thr49Ala	missense variant	-	NC_000001.11:g.180155052A>G	TOPMed
rs1159327330	p.Thr49Lys	missense variant	-	NC_000001.11:g.180155053C>A	TOPMed,gnomAD
rs1172457236	p.Gly52Asp	missense variant	-	NC_000001.11:g.180155062G>A	gnomAD
rs1188560314	p.Ala53Gly	missense variant	-	NC_000001.11:g.180155065C>G	TOPMed
rs1476090327	p.Leu55Pro	missense variant	-	NC_000001.11:g.180155071T>C	TOPMed
rs1433633382	p.Gly56Arg	missense variant	-	NC_000001.11:g.180155073G>C	TOPMed,gnomAD
rs758183518	p.Ser57Phe	missense variant	-	NC_000001.11:g.180155077C>T	ExAC,gnomAD
rs1315386530	p.Arg58Cys	missense variant	-	NC_000001.11:g.180155079C>T	gnomAD
rs570322502	p.Ser59Arg	missense variant	-	NC_000001.11:g.180155082A>C	1000Genomes,gnomAD
rs570322502	p.Ser59Gly	missense variant	-	NC_000001.11:g.180155082A>G	1000Genomes,gnomAD
rs1342152030	p.Ala60Thr	missense variant	-	NC_000001.11:g.180155085G>A	TOPMed,gnomAD
rs1308226650	p.Ala62Val	missense variant	-	NC_000001.11:g.180155092C>T	gnomAD
rs1245273944	p.Val63Ala	missense variant	-	NC_000001.11:g.180155095T>C	gnomAD
rs1318943926	p.Val63Met	missense variant	-	NC_000001.11:g.180155094G>A	TOPMed,gnomAD
rs1232454589	p.Ala67Val	missense variant	-	NC_000001.11:g.180155107C>T	gnomAD
rs921960050	p.Trp69Ser	missense variant	-	NC_000001.11:g.180155113G>C	TOPMed
rs954696948	p.Cys70Tyr	missense variant	-	NC_000001.11:g.180155116G>A	TOPMed
rs1212872825	p.His72Leu	missense variant	-	NC_000001.11:g.180155122A>T	gnomAD
rs1231135548	p.Ile74Phe	missense variant	-	NC_000001.11:g.180155127A>T	gnomAD
rs1177546470	p.Ala75Asp	missense variant	-	NC_000001.11:g.180155131C>A	gnomAD
rs1431088237	p.Phe76Val	missense variant	-	NC_000001.11:g.180155133T>G	TOPMed,gnomAD
rs777586068	p.Ala77Thr	missense variant	-	NC_000001.11:g.180155136G>A	ExAC,TOPMed,gnomAD
rs1395097604	p.Pro78Ala	missense variant	-	NC_000001.11:g.180155139C>G	gnomAD
rs1286804756	p.Thr79Met	missense variant	-	NC_000001.11:g.180155143C>T	TOPMed
rs1353250738	p.Trp80Cys	missense variant	-	NC_000001.11:g.180155147G>T	gnomAD
rs1461973983	p.Lys81Arg	missense variant	-	NC_000001.11:g.180155149A>G	gnomAD
rs1375990003	p.Leu83Val	missense variant	-	NC_000001.11:g.180155154C>G	TOPMed,gnomAD
rs1389345238	p.Leu83Arg	missense variant	-	NC_000001.11:g.180155155T>G	TOPMed
rs1438908648	p.Ala84Val	missense variant	-	NC_000001.11:g.180155158C>T	TOPMed,gnomAD
rs1438908648	p.Ala84Asp	missense variant	-	NC_000001.11:g.180155158C>A	TOPMed,gnomAD
rs1212048509	p.Glu85Ala	missense variant	-	NC_000001.11:g.180155161A>C	gnomAD
rs1302977574	p.Glu85Lys	missense variant	-	NC_000001.11:g.180155160G>A	gnomAD
rs920325204	p.Asp86Asn	missense variant	-	NC_000001.11:g.180155163G>A	gnomAD
rs745855911	p.Val87Ile	missense variant	-	NC_000001.11:g.180155166G>A	ExAC,TOPMed,gnomAD
rs745855911	p.Val87Leu	missense variant	-	NC_000001.11:g.180155166G>C	ExAC,TOPMed,gnomAD
rs931500881	p.Lys88Glu	missense variant	-	NC_000001.11:g.180155169A>G	TOPMed,gnomAD
rs1465406777	p.Ala89Pro	missense variant	-	NC_000001.11:g.180155172G>C	gnomAD
COSM677775	p.Trp90Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180166494G>T	NCI-TCGA Cosmic
rs746532674	p.Pro92Leu	missense variant	-	NC_000001.11:g.180166500C>T	ExAC,gnomAD
rs372037235	p.Leu94Val	missense variant	-	NC_000001.11:g.180166505C>G	ESP,ExAC,gnomAD
rs1057441838	p.Tyr95Cys	missense variant	-	NC_000001.11:g.180166509A>G	TOPMed
rs375407780	p.Ala97Thr	missense variant	-	NC_000001.11:g.180166514G>A	ESP,ExAC,TOPMed,gnomAD
rs375407780	p.Ala97Ser	missense variant	-	NC_000001.11:g.180166514G>T	ESP,ExAC,TOPMed,gnomAD
rs201825048	p.Ala98Thr	missense variant	-	NC_000001.11:g.180166517G>A	NCI-TCGA,NCI-TCGA Cosmic
rs201825048	p.Ala98Thr	missense variant	-	NC_000001.11:g.180166517G>A	ESP,ExAC,TOPMed,gnomAD
rs375285118	p.Asp100Asn	missense variant	-	NC_000001.11:g.180166523G>A	ESP,ExAC,TOPMed,gnomAD
rs1316513170	p.Ala102Gly	missense variant	-	NC_000001.11:g.180166530C>G	gnomAD
rs779969740	p.Glu103Lys	missense variant	-	NC_000001.11:g.180166532G>A	ExAC,gnomAD
rs149269903	p.Glu104Asp	missense variant	-	NC_000001.11:g.180166537G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149269903	p.Glu104Asp	missense variant	-	NC_000001.11:g.180166537G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr105Ser	missense variant	-	NC_000001.11:g.180166539C>G	NCI-TCGA
rs148397885	p.Thr105Ser	missense variant	-	NC_000001.11:g.180166538A>T	ESP,ExAC,TOPMed,gnomAD
rs778980035	p.Asn106Ser	missense variant	-	NC_000001.11:g.180166542A>G	ExAC,gnomAD
rs1336694206	p.Ser107Asn	missense variant	-	NC_000001.11:g.180166545G>A	gnomAD
rs748443918	p.Ser107Gly	missense variant	-	NC_000001.11:g.180166544A>G	ExAC,gnomAD
rs772042431	p.Ala108Val	missense variant	-	NC_000001.11:g.180166548C>T	ExAC,TOPMed,gnomAD
rs773399208	p.Val109Phe	missense variant	-	NC_000001.11:g.180166550G>T	ExAC,gnomAD
rs773399208	p.Val109Ile	missense variant	-	NC_000001.11:g.180166550G>A	ExAC,gnomAD
rs773399208	p.Val109Leu	missense variant	-	NC_000001.11:g.180166550G>C	ExAC,gnomAD
rs1330036317	p.Cys110Arg	missense variant	-	NC_000001.11:g.180166553T>C	gnomAD
COSM1473096	p.Cys110Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180166553T>A	NCI-TCGA Cosmic
rs376417038	p.Phe113Leu	missense variant	-	NC_000001.11:g.180166564C>G	ESP,ExAC,TOPMed,gnomAD
rs3894211	p.Asn114Ser	missense variant	-	NC_000001.11:g.180166566A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1484972561	p.Ile115Val	missense variant	-	NC_000001.11:g.180166568A>G	TOPMed,gnomAD
COSM6059852	p.Pro116Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180166572C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly117Asp	missense variant	-	NC_000001.11:g.180166575G>A	NCI-TCGA
rs1258587172	p.Pro119Leu	missense variant	-	NC_000001.11:g.180166581C>T	TOPMed,gnomAD
rs1157004338	p.Val121Met	missense variant	-	NC_000001.11:g.180166586G>A	gnomAD
rs955705755	p.Arg122Lys	missense variant	-	NC_000001.11:g.180166590G>A	TOPMed
rs778835833	p.Ala126Ser	missense variant	-	NC_000001.11:g.180175330G>T	ExAC,gnomAD
rs144560523	p.Phe127Ser	missense variant	-	NC_000001.11:g.180175334T>C	ESP,ExAC,gnomAD
rs777865350	p.Thr128Asn	missense variant	-	NC_000001.11:g.180175337C>A	ExAC
NCI-TCGA novel	p.Asn130Asp	missense variant	-	NC_000001.11:g.180175342A>G	NCI-TCGA
rs377697828	p.Gly131Ser	missense variant	-	NC_000001.11:g.180175345G>A	ESP,ExAC,TOPMed,gnomAD
rs770038519	p.Ser132Leu	missense variant	-	NC_000001.11:g.180175349C>T	ExAC,gnomAD
rs770038519	p.Ser132Leu	missense variant	-	NC_000001.11:g.180175349C>T	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Val135Glu	missense variant	-	NC_000001.11:g.180175358T>A	NCI-TCGA
rs1470664414	p.Val135Ile	missense variant	-	NC_000001.11:g.180175357G>A	TOPMed
rs763228241	p.Phe136Ser	missense variant	-	NC_000001.11:g.180175361T>C	ExAC,gnomAD
rs763839616	p.Gly140Asp	missense variant	-	NC_000001.11:g.180175937G>A	ExAC,TOPMed
rs1416903589	p.Ala141Thr	missense variant	-	NC_000001.11:g.180175939G>A	gnomAD
rs757492307	p.Ala141Val	missense variant	-	NC_000001.11:g.180175940C>T	ExAC,gnomAD
rs757492307	p.Ala141Gly	missense variant	-	NC_000001.11:g.180175940C>G	ExAC,gnomAD
rs77576543	p.Asp142Glu	missense variant	-	NC_000001.11:g.180175944C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756169623	p.Val143Met	missense variant	-	NC_000001.11:g.180175945G>A	ExAC,gnomAD
rs756169623	p.Val143Leu	missense variant	-	NC_000001.11:g.180175945G>C	ExAC,gnomAD
rs749799207	p.Val143Gly	missense variant	-	NC_000001.11:g.180175946T>G	ExAC
rs756169623	p.Val143Leu	missense variant	-	NC_000001.11:g.180175945G>T	ExAC,gnomAD
rs1318468651	p.Gln144Pro	missense variant	-	NC_000001.11:g.180175949A>C	gnomAD
rs779309103	p.Thr145Ile	missense variant	-	NC_000001.11:g.180175952C>T	ExAC,TOPMed,gnomAD
rs776298447	p.Arg147Gln	missense variant	-	NC_000001.11:g.180175958G>A	ExAC,TOPMed,gnomAD
rs770506728	p.Arg147Gly	missense variant	-	NC_000001.11:g.180175957C>G	ExAC,TOPMed,gnomAD
rs770506728	p.Arg147Trp	missense variant	-	NC_000001.11:g.180175957C>T	ExAC,TOPMed,gnomAD
rs1179124644	p.Arg149Met	missense variant	-	NC_000001.11:g.180175964G>T	TOPMed
rs1245732828	p.Arg149Gly	missense variant	-	NC_000001.11:g.180175963A>G	gnomAD
rs1204608154	p.Ile151Thr	missense variant	-	NC_000001.11:g.180175970T>C	gnomAD
rs775471998	p.Ala153Thr	missense variant	-	NC_000001.11:g.180175975G>A	ExAC,gnomAD
rs1489825240	p.Leu154Gln	missense variant	-	NC_000001.11:g.180175979T>A	TOPMed
NCI-TCGA novel	p.Glu155Asp	missense variant	-	NC_000001.11:g.180175983G>T	NCI-TCGA
rs1475433181	p.Glu155Lys	missense variant	-	NC_000001.11:g.180175981G>A	gnomAD
rs1267928702	p.Ser156Thr	missense variant	-	NC_000001.11:g.180175984T>A	TOPMed
rs1361686134	p.His158Arg	missense variant	-	NC_000001.11:g.180175991A>G	TOPMed,gnomAD
rs1267435949	p.Asp159Val	missense variant	-	NC_000001.11:g.180175994A>T	TOPMed
rs1452680690	p.Thr160Ser	missense variant	-	NC_000001.11:g.180175996A>T	gnomAD
rs200899348	p.Thr160Met	missense variant	-	NC_000001.11:g.180175997C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1412238500	p.Pro163Ser	missense variant	-	NC_000001.11:g.180176005C>T	TOPMed
rs1355179294	p.Ala164Thr	missense variant	-	NC_000001.11:g.180176008G>A	gnomAD
rs1344104676	p.Ala164Val	missense variant	-	NC_000001.11:g.180176009C>T	TOPMed
rs767795642	p.Cys165Phe	missense variant	-	NC_000001.11:g.180176012G>T	ExAC,TOPMed,gnomAD
rs775600138	p.Pro167Ser	missense variant	-	NC_000001.11:g.180176017C>T	ExAC,TOPMed,gnomAD
rs761955056	p.Leu168Val	missense variant	-	NC_000001.11:g.180176020C>G	ExAC,TOPMed,gnomAD
rs753255002	p.Glu174Val	missense variant	-	NC_000001.11:g.180178799A>T	ExAC,TOPMed,gnomAD
rs753255002	p.Glu174Gly	missense variant	-	NC_000001.11:g.180178799A>G	ExAC,TOPMed,gnomAD
rs778182297	p.Glu175Gly	missense variant	-	NC_000001.11:g.180178802A>G	ExAC,gnomAD
rs745524961	p.Ile176Val	missense variant	-	NC_000001.11:g.180178804A>G	ExAC,TOPMed,gnomAD
rs1439070756	p.Ile176Thr	missense variant	-	NC_000001.11:g.180178805T>C	gnomAD
rs755651687	p.Phe180Leu	missense variant	-	NC_000001.11:g.180178816T>C	ExAC,gnomAD
rs761239969	p.Ala181Val	stop gained	-	NC_000001.11:g.180178820C>T	NCI-TCGA,NCI-TCGA Cosmic
rs761239969	p.Ala181Gly	missense variant	-	NC_000001.11:g.180178820C>G	ExAC,TOPMed,gnomAD
rs761239969	p.Ala181Val	missense variant	-	NC_000001.11:g.180178820C>T	ExAC,TOPMed,gnomAD
rs768327518	p.Asn183Ser	missense variant	-	NC_000001.11:g.180178826A>G	ExAC,TOPMed,gnomAD
rs892580630	p.Glu185Lys	missense variant	-	NC_000001.11:g.180178831G>A	TOPMed,gnomAD
rs892580630	p.Glu185Gln	missense variant	-	NC_000001.11:g.180178831G>C	TOPMed,gnomAD
rs748161387	p.Glu186Asp	missense variant	-	NC_000001.11:g.180178836G>C	ExAC,gnomAD
rs760523395	p.Ala189Val	missense variant	-	NC_000001.11:g.180178844C>T	ExAC,gnomAD
rs772824314	p.Ala189Pro	missense variant	-	NC_000001.11:g.180178843G>C	ExAC,gnomAD
rs573609481	p.Leu190Val	missense variant	-	NC_000001.11:g.180178846C>G	1000Genomes,ExAC,gnomAD
rs374581260	p.Glu193Ala	missense variant	-	NC_000001.11:g.180178856A>C	ESP,ExAC,TOPMed
rs774680958	p.Lys194Thr	missense variant	-	NC_000001.11:g.180178859A>C	ExAC,TOPMed,gnomAD
rs1426243997	p.Lys194Asn	missense variant	-	NC_000001.11:g.180178860G>C	gnomAD
rs1460016702	p.Gly196Cys	missense variant	-	NC_000001.11:g.180178864G>T	gnomAD
rs1325499361	p.Gly196Ala	missense variant	-	NC_000001.11:g.180178865G>C	gnomAD
rs368077994	p.Ser197Phe	missense variant	-	NC_000001.11:g.180178868C>T	ESP,ExAC,TOPMed,gnomAD
rs201938628	p.Tyr198His	missense variant	-	NC_000001.11:g.180178870T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Leu199Met	missense variant	-	NC_000001.11:g.180178873C>A	NCI-TCGA
NCI-TCGA novel	p.Gly200Arg	missense variant	-	NC_000001.11:g.180178876G>C	NCI-TCGA
rs17855475	p.Gly200Ala	missense variant	-	NC_000001.11:g.180178877G>C	UniProt,dbSNP
VAR_027430	p.Gly200Ala	missense variant	-	NC_000001.11:g.180178877G>C	UniProt
rs17855475	p.Gly200Ala	missense variant	-	NC_000001.11:g.180178877G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757659432	p.Arg201Gly	missense variant	-	NC_000001.11:g.180178879A>G	ExAC,gnomAD
rs1187264413	p.Val203Met	missense variant	-	NC_000001.11:g.180182174G>A	gnomAD
rs1473860446	p.Ala204Thr	missense variant	-	NC_000001.11:g.180182177G>A	gnomAD
rs1351883097	p.Leu205Val	missense variant	-	NC_000001.11:g.180182180C>G	TOPMed,gnomAD
rs375987559	p.Asp206Gly	missense variant	-	NC_000001.11:g.180182184A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser208Pro	missense variant	-	NC_000001.11:g.180182189T>C	NCI-TCGA
rs369642360	p.Ser208Phe	missense variant	-	NC_000001.11:g.180182190C>T	ESP,TOPMed,gnomAD
rs369642360	p.Ser208Cys	missense variant	-	NC_000001.11:g.180182190C>G	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.His210Asp	missense variant	-	NC_000001.11:g.180182195C>G	NCI-TCGA
rs201057145	p.Val213Met	missense variant	-	NC_000001.11:g.180182204G>A	ESP,ExAC,TOPMed,gnomAD
rs201057145	p.Val213Leu	missense variant	-	NC_000001.11:g.180182204G>T	ESP,ExAC,TOPMed,gnomAD
rs74997002	p.Ala214Val	missense variant	-	NC_000001.11:g.180182208C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1433454513	p.Val215Met	missense variant	-	NC_000001.11:g.180182210G>A	TOPMed
rs745681231	p.Arg216Cys	missense variant	-	NC_000001.11:g.180182213C>T	ExAC,gnomAD
rs149484554	p.Arg216Leu	missense variant	-	NC_000001.11:g.180182214G>T	ESP,ExAC,TOPMed,gnomAD
rs149484554	p.Arg216His	missense variant	-	NC_000001.11:g.180182214G>A	ESP,ExAC,TOPMed,gnomAD
rs768818522	p.Val218Met	missense variant	-	NC_000001.11:g.180182219G>A	ExAC,gnomAD
rs1200388799	p.Thr221Ala	missense variant	-	NC_000001.11:g.180182228A>G	gnomAD
rs1279711277	p.Glu222Gly	missense variant	-	NC_000001.11:g.180182232A>G	gnomAD
rs773645175	p.Asn224Ser	missense variant	-	NC_000001.11:g.180182238A>G	ExAC,TOPMed,gnomAD
rs761152127	p.Val226Glu	missense variant	-	NC_000001.11:g.180182244T>A	ExAC,gnomAD
rs752448005	p.Phe229Ser	missense variant	-	NC_000001.11:g.180182253T>C	ExAC,gnomAD
rs763729449	p.Gly230Asp	missense variant	-	NC_000001.11:g.180182256G>A	ExAC,TOPMed,gnomAD
rs757818039	p.Gly230Ser	missense variant	-	NC_000001.11:g.180182255G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val231Ala	missense variant	-	NC_000001.11:g.180182259T>C	NCI-TCGA
rs1450063787	p.Thr232Ala	missense variant	-	NC_000001.11:g.180182261A>G	TOPMed
rs570361846	p.Asp233Asn	missense variant	-	NC_000001.11:g.180182264G>A	1000Genomes,ExAC,gnomAD
rs1330482509	p.Phe234Ser	missense variant	-	NC_000001.11:g.180182268T>C	gnomAD
rs201050141	p.Phe234Leu	missense variant	-	NC_000001.11:g.180182267T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ser236LeuPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.180182269C>-	NCI-TCGA
rs1400551478	p.Ser236Cys	missense variant	-	NC_000001.11:g.180182274C>G	gnomAD
rs745609786	p.Cys237Ser	missense variant	-	NC_000001.11:g.180182276T>A	ExAC,gnomAD
NCI-TCGA novel	p.Tyr238Cys	missense variant	-	NC_000001.11:g.180182280A>G	NCI-TCGA
rs1361820624	p.Tyr238His	missense variant	-	NC_000001.11:g.180182279T>C	gnomAD
NCI-TCGA novel	p.Leu240Met	missense variant	-	NC_000001.11:g.180182285C>A	NCI-TCGA
rs780215770	p.Phe241Ser	missense variant	-	NC_000001.11:g.180182289T>C	ExAC,gnomAD
rs780215770	p.Phe241Cys	missense variant	-	NC_000001.11:g.180182289T>G	ExAC,gnomAD
rs200481798	p.Arg242Trp	missense variant	-	NC_000001.11:g.180182291C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs148485913	p.Arg242Gln	missense variant	-	NC_000001.11:g.180182292G>A	ESP,ExAC,TOPMed,gnomAD
rs890271200	p.Gly244Asp	missense variant	-	NC_000001.11:g.180182298G>A	TOPMed
rs748181022	p.Val246Ile	missense variant	-	NC_000001.11:g.180182303G>A	ExAC,gnomAD
rs1008800112	p.Arg248Gly	missense variant	-	NC_000001.11:g.180182309C>G	TOPMed,gnomAD
rs968998313	p.Arg248Gln	missense variant	-	NC_000001.11:g.180182310G>A	gnomAD
rs1008800112	p.Arg248Ter	stop gained	-	NC_000001.11:g.180182309C>T	TOPMed,gnomAD
rs1458334672	p.Val249Ile	missense variant	-	NC_000001.11:g.180182312G>A	gnomAD
COSM3479433	p.Pro250Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180182315C>T	NCI-TCGA Cosmic
rs769299023	p.Val251Met	missense variant	-	NC_000001.11:g.180182318G>A	ExAC,TOPMed,gnomAD
rs769299023	p.Val251Leu	missense variant	-	NC_000001.11:g.180182318G>T	ExAC,TOPMed,gnomAD
COSM900449	p.Met253Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180183922G>T	NCI-TCGA Cosmic
rs1465095299	p.Ser257Phe	missense variant	-	NC_000001.11:g.180183933C>T	TOPMed
NCI-TCGA novel	p.Phe258Leu	missense variant	-	NC_000001.11:g.180183937C>A	NCI-TCGA
rs377358722	p.Phe258Leu	missense variant	-	NC_000001.11:g.180183935T>C	ESP,ExAC,TOPMed,gnomAD
rs760547195	p.Tyr259Cys	missense variant	-	NC_000001.11:g.180183939A>G	ExAC,gnomAD
rs753621176	p.Ala261Thr	missense variant	-	NC_000001.11:g.180183944G>A	ExAC,TOPMed,gnomAD
rs1351626580	p.Gln264Ter	stop gained	-	NC_000001.11:g.180183953C>T	gnomAD
rs754761140	p.Gln264Arg	missense variant	-	NC_000001.11:g.180183954A>G	ExAC,gnomAD
rs779163826	p.Gln264His	missense variant	-	NC_000001.11:g.180183955G>C	ExAC,gnomAD
rs752910472	p.Arg265Lys	missense variant	-	NC_000001.11:g.180183957G>A	ExAC,gnomAD
rs1255225250	p.Leu266Phe	missense variant	-	NC_000001.11:g.180183959C>T	TOPMed,gnomAD
rs1255225250	p.Leu266Val	missense variant	-	NC_000001.11:g.180183959C>G	TOPMed,gnomAD
rs1423975061	p.Leu266His	missense variant	-	NC_000001.11:g.180183960T>A	TOPMed,gnomAD
rs758537573	p.Gly268Glu	missense variant	-	NC_000001.11:g.180183966G>A	ExAC,gnomAD
rs1361521098	p.Thr270Asn	missense variant	-	NC_000001.11:g.180183972C>A	gnomAD
rs994524552	p.Ala273Ser	missense variant	-	NC_000001.11:g.180183980G>T	TOPMed
rs778063550	p.Ala274Val	missense variant	-	NC_000001.11:g.180183984C>T	ExAC,TOPMed,gnomAD
rs1361714354	p.Ala274Ser	missense variant	-	NC_000001.11:g.180183983G>T	gnomAD
rs1401958178	p.Thr276Ala	missense variant	-	NC_000001.11:g.180183989A>G	gnomAD
rs985057113	p.Thr277Ala	missense variant	-	NC_000001.11:g.180183992A>G	TOPMed
rs747088025	p.Val278Ala	missense variant	-	NC_000001.11:g.180183996T>C	ExAC,gnomAD
COSM900450	p.Val278Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180183995G>T	NCI-TCGA Cosmic
rs140969999	p.Ala279Gly	missense variant	-	NC_000001.11:g.180183999C>G	ESP,ExAC,gnomAD
rs781568463	p.Pro280Ser	missense variant	-	NC_000001.11:g.180184001C>T	ExAC,gnomAD
rs1310164754	p.Thr282Ile	missense variant	-	NC_000001.11:g.180184008C>T	gnomAD
COSM3803052	p.Ala283Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180184010G>A	NCI-TCGA Cosmic
rs1207956213	p.Asn284Lys	missense variant	-	NC_000001.11:g.180184015C>A	gnomAD
NCI-TCGA novel	p.Ile286Met	missense variant	-	NC_000001.11:g.180184021A>G	NCI-TCGA
rs1412905968	p.Ile286Val	missense variant	-	NC_000001.11:g.180184019A>G	TOPMed
rs746217745	p.Ala287Val	missense variant	-	NC_000001.11:g.180184023C>T	ExAC,TOPMed,gnomAD
rs770108782	p.Val290Leu	missense variant	-	NC_000001.11:g.180184031G>C	ExAC,gnomAD
rs770108782	p.Val290Ile	missense variant	-	NC_000001.11:g.180184031G>A	ExAC,gnomAD
rs1173728756	p.Lys292Arg	missense variant	-	NC_000001.11:g.180184038A>G	TOPMed
rs774043721	p.Lys292Asn	missense variant	-	NC_000001.11:g.180184039A>T	ExAC,TOPMed,gnomAD
rs771718981	p.Leu293Trp	missense variant	-	NC_000001.11:g.180184041T>G	ExAC,gnomAD
rs2278943	p.Ala294Ser	missense variant	-	NC_000001.11:g.180184043G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs2278943	p.Ala294Ser	missense variant	-	NC_000001.11:g.180184043G>T	UniProt,dbSNP
VAR_027432	p.Ala294Ser	missense variant	-	NC_000001.11:g.180184043G>T	UniProt
rs1228520344	p.Asp295His	missense variant	-	NC_000001.11:g.180184046G>C	TOPMed,gnomAD
rs146785605	p.Arg296Ser	missense variant	-	NC_000001.11:g.180184049C>A	ESP,ExAC,TOPMed,gnomAD
rs146785605	p.Arg296Cys	missense variant	-	NC_000001.11:g.180184049C>T	ESP,ExAC,TOPMed,gnomAD
rs772883091	p.Lys298Arg	missense variant	-	NC_000001.11:g.180186058A>G	ExAC,gnomAD
COSM284421	p.Lys298Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180186059G>T	NCI-TCGA Cosmic
rs1465255461	p.Ile299Val	missense variant	-	NC_000001.11:g.180186060A>G	TOPMed,gnomAD
rs1465255461	p.Ile299Phe	missense variant	-	NC_000001.11:g.180186060A>T	TOPMed,gnomAD
rs746492167	p.Tyr300Cys	missense variant	-	NC_000001.11:g.180186064A>G	ExAC,gnomAD
COSM4025684	p.Ala302Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180186069G>T	NCI-TCGA Cosmic
rs1402777124	p.Leu304Pro	missense variant	-	NC_000001.11:g.180186076T>C	gnomAD
rs145881420	p.Leu308Pro	missense variant	-	NC_000001.11:g.180186088T>C	ESP,TOPMed,gnomAD
rs776616830	p.Arg313Gln	missense variant	-	NC_000001.11:g.180186103G>A	ExAC,TOPMed,gnomAD
rs1047353611	p.Arg313Trp	missense variant	-	NC_000001.11:g.180186102C>T	TOPMed,gnomAD
rs765222717	p.Glu315Gly	missense variant	-	NC_000001.11:g.180186109A>G	ExAC,TOPMed,gnomAD
rs759457357	p.Glu315Ter	stop gained	-	NC_000001.11:g.180186108G>T	ExAC,TOPMed,gnomAD
rs775364886	p.Arg318Thr	missense variant	-	NC_000001.11:g.180186118G>C	ExAC,gnomAD
rs543057324	p.Arg318Ser	missense variant	-	NC_000001.11:g.180186119G>C	1000Genomes,ExAC,gnomAD
rs200808149	p.Pro320Leu	missense variant	-	NC_000001.11:g.180186124C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1414580293	p.Val321Ile	missense variant	-	NC_000001.11:g.180186126G>A	gnomAD
rs767563398	p.Gly324Arg	missense variant	-	NC_000001.11:g.180186135G>A	ExAC,gnomAD
rs750523643	p.Gln325Arg	missense variant	-	NC_000001.11:g.180186139A>G	ExAC,gnomAD
rs747164407	p.Arg326His	missense variant	-	NC_000001.11:g.180186142G>A	ExAC,TOPMed,gnomAD
rs747164407	p.Arg326Leu	missense variant	-	NC_000001.11:g.180186142G>T	ExAC,TOPMed,gnomAD
rs189319097	p.Arg326Cys	missense variant	-	NC_000001.11:g.180186141C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1164095511	p.Leu327Val	missense variant	-	NC_000001.11:g.180186144C>G	gnomAD
rs565169426	p.Leu330Pro	missense variant	-	NC_000001.11:g.180186154T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Lys331Thr	missense variant	-	NC_000001.11:g.180186157A>C	NCI-TCGA
rs981366686	p.Lys331Asn	missense variant	-	NC_000001.11:g.180186158A>C	TOPMed,gnomAD
rs981366686	p.Lys331Asn	missense variant	-	NC_000001.11:g.180186158A>T	TOPMed,gnomAD
rs1214226905	p.Lys332Gln	missense variant	-	NC_000001.11:g.180186159A>C	TOPMed
COSM4025687	p.Lys332Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180186160A>G	NCI-TCGA Cosmic
rs527768719	p.Phe333Tyr	missense variant	-	NC_000001.11:g.180186163T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs770468962	p.Phe333Leu	missense variant	-	NC_000001.11:g.180186164T>G	ExAC,TOPMed,gnomAD
rs527768719	p.Phe333Cys	missense variant	-	NC_000001.11:g.180186163T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs527768719	p.Phe333Ser	missense variant	-	NC_000001.11:g.180186163T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1339807620	p.Phe333Leu	missense variant	-	NC_000001.11:g.180186162T>C	gnomAD
rs950408515	p.Ala335Val	missense variant	-	NC_000001.11:g.180186169C>T	TOPMed
rs1376434744	p.Ala335Ser	missense variant	-	NC_000001.11:g.180186168G>T	gnomAD
COSM3479434	p.Pro342Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180189558C>T	NCI-TCGA Cosmic
rs1485600984	p.Gly343Cys	missense variant	-	NC_000001.11:g.180189561G>T	TOPMed
NCI-TCGA novel	p.Gly343Asp	missense variant	-	NC_000001.11:g.180189562G>A	NCI-TCGA
NCI-TCGA novel	p.Arg344Gly	missense variant	-	NC_000001.11:g.180189564C>G	NCI-TCGA
rs773523866	p.Arg344Trp	missense variant	-	NC_000001.11:g.180189564C>T	ExAC,gnomAD
rs760649166	p.Arg344Gln	missense variant	-	NC_000001.11:g.180189565G>A	ExAC,gnomAD
COSM6059851	p.Arg344Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180189565G>T	NCI-TCGA Cosmic
rs759968711	p.Leu346Val	missense variant	-	NC_000001.11:g.180189570T>G	ExAC,gnomAD
rs759968711	p.Leu346Ile	missense variant	-	NC_000001.11:g.180189570T>A	ExAC,gnomAD
rs752953260	p.Gln348His	missense variant	-	NC_000001.11:g.180189578G>C	ExAC,TOPMed,gnomAD
rs765745199	p.Gln348Lys	missense variant	-	NC_000001.11:g.180189576C>A	ExAC,TOPMed,gnomAD
COSM4025688	p.Asn349Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180189581C>G	NCI-TCGA Cosmic
rs758819192	p.Leu351Val	missense variant	-	NC_000001.11:g.180189585C>G	ExAC,gnomAD
rs1279864891	p.Leu351Pro	missense variant	-	NC_000001.11:g.180189586T>C	gnomAD
COSM1336782	p.Leu351Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180189585C>A	NCI-TCGA Cosmic
rs780674090	p.His352Tyr	missense variant	-	NC_000001.11:g.180189588C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser353Tyr	missense variant	-	NC_000001.11:g.180189592C>A	NCI-TCGA
rs535977866	p.Ser353Phe	missense variant	-	NC_000001.11:g.180189592C>T	1000Genomes,ExAC,gnomAD
rs148353050	p.Val354Met	missense variant	-	NC_000001.11:g.180189594G>A	ESP,ExAC,TOPMed,gnomAD
rs148353050	p.Val354Leu	missense variant	-	NC_000001.11:g.180189594G>T	ESP,ExAC,TOPMed,gnomAD
rs148353050	p.Val354Leu	missense variant	-	NC_000001.11:g.180189594G>C	ESP,ExAC,TOPMed,gnomAD
rs1244894316	p.Asn355Ser	missense variant	-	NC_000001.11:g.180189598A>G	gnomAD
rs1244894316	p.Asn355Thr	missense variant	-	NC_000001.11:g.180189598A>C	gnomAD
rs768668241	p.Glu356Lys	missense variant	-	NC_000001.11:g.180189600G>A	ExAC,gnomAD
rs147174133	p.Trp357Cys	missense variant	-	NC_000001.11:g.180189605G>T	ESP,ExAC,TOPMed,gnomAD
rs779027986	p.Trp357Arg	missense variant	-	NC_000001.11:g.180189603T>C	ExAC,TOPMed,gnomAD
rs771951030	p.Leu358Ile	missense variant	-	NC_000001.11:g.180189606C>A	ExAC,gnomAD
rs773294213	p.Leu358Pro	missense variant	-	NC_000001.11:g.180189607T>C	ExAC,gnomAD
rs1434605561	p.Lys359Glu	missense variant	-	NC_000001.11:g.180189609A>G	gnomAD
NCI-TCGA novel	p.Gln361Arg	missense variant	-	NC_000001.11:g.180189616A>G	NCI-TCGA
rs761024065	p.Gln361Glu	missense variant	-	NC_000001.11:g.180189615C>G	ExAC,TOPMed,gnomAD
rs771146454	p.Gln361Pro	missense variant	-	NC_000001.11:g.180189616A>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg363Ile	missense variant	-	NC_000001.11:g.180189622G>T	NCI-TCGA
rs776632189	p.Arg363Lys	missense variant	-	NC_000001.11:g.180189622G>A	ExAC,gnomAD
rs759633607	p.Asn364Asp	missense variant	-	NC_000001.11:g.180189624A>G	ExAC,gnomAD
rs1172233637	p.Lys365Gln	missense variant	-	NC_000001.11:g.180189627A>C	gnomAD
COSM4458842	p.Pro367Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180189634C>T	NCI-TCGA Cosmic
rs1284273190	p.TyrSer368Ter	stop gained	-	NC_000001.11:g.180189638_180189639del	gnomAD
rs200058535	p.Ser369Gly	missense variant	-	NC_000001.11:g.180189639A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM208358	p.Phe370Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180189644C>A	NCI-TCGA Cosmic
rs1176969780	p.Ala374Ser	missense variant	-	NC_000001.11:g.180189654G>T	TOPMed
rs1176969780	p.Ala374Thr	missense variant	-	NC_000001.11:g.180189654G>A	TOPMed
rs568957643	p.Asp377Asn	missense variant	-	NC_000001.11:g.180189663G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1316816978	p.Ala382Asp	missense variant	-	NC_000001.11:g.180190437C>A	TOPMed
rs764868665	p.Val383Leu	missense variant	-	NC_000001.11:g.180190439G>C	ExAC,TOPMed,gnomAD
rs764868665	p.Val383Ile	missense variant	-	NC_000001.11:g.180190439G>A	ExAC,TOPMed,gnomAD
rs572991409	p.Leu384Val	missense variant	-	NC_000001.11:g.180190442C>G	gnomAD
rs752152161	p.Leu384Arg	missense variant	-	NC_000001.11:g.180190443T>G	ExAC,gnomAD
COSM900453	p.Leu384Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180190443T>C	NCI-TCGA Cosmic
rs572991409	p.Leu384Phe	missense variant	-	NC_000001.11:g.180190442C>T	gnomAD
rs758297162	p.Lys387Glu	missense variant	-	NC_000001.11:g.180190451A>G	ExAC,gnomAD
rs1282250767	p.Lys387Thr	missense variant	-	NC_000001.11:g.180190452A>C	TOPMed
rs149960435	p.Val388Met	missense variant	-	NC_000001.11:g.180190454G>A	ESP,TOPMed,gnomAD
rs149960435	p.Val388Leu	missense variant	-	NC_000001.11:g.180190454G>T	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Asn389Lys	missense variant	-	NC_000001.11:g.180190459C>G	NCI-TCGA
rs777591494	p.Asn389Ser	missense variant	-	NC_000001.11:g.180190458A>G	ExAC,gnomAD
rs1286588231	p.Gly392Val	missense variant	-	NC_000001.11:g.180190467G>T	TOPMed
rs746764395	p.Cys393Phe	missense variant	-	NC_000001.11:g.180190470G>T	ExAC,gnomAD
rs1000339032	p.Gln394Arg	missense variant	-	NC_000001.11:g.180190473A>G	TOPMed
rs201390473	p.Pro398Leu	missense variant	-	NC_000001.11:g.180190485C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs143670617	p.His399Asp	missense variant	-	NC_000001.11:g.180190487C>G	ESP,ExAC,TOPMed,gnomAD
rs143670617	p.His399Tyr	missense variant	-	NC_000001.11:g.180190487C>T	ESP,ExAC,TOPMed,gnomAD
COSM6059850	p.His399Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180190488A>G	NCI-TCGA Cosmic
rs1024762115	p.Arg401Trp	missense variant	-	NC_000001.11:g.180190493C>T	TOPMed,gnomAD
rs775586559	p.Pro404Thr	missense variant	-	NC_000001.11:g.180190502C>A	ExAC,gnomAD
COSM3479436	p.Pro404Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180190503C>T	NCI-TCGA Cosmic
rs1184856837	p.Val409Ala	missense variant	-	NC_000001.11:g.180190518T>C	TOPMed
rs1211054816	p.His412Arg	missense variant	-	NC_000001.11:g.180190527A>G	TOPMed
NCI-TCGA novel	p.Val416Leu	missense variant	-	NC_000001.11:g.180190538G>T	NCI-TCGA
rs1158610307	p.Gln417Arg	missense variant	-	NC_000001.11:g.180190542A>G	gnomAD
rs1262858843	p.Gln417Ter	stop gained	-	NC_000001.11:g.180190541C>T	TOPMed
rs200237514	p.Ala418Ser	missense variant	-	NC_000001.11:g.180190544G>T	ESP,ExAC,TOPMed,gnomAD
rs200237514	p.Ala418Thr	missense variant	-	NC_000001.11:g.180190544G>A	ESP,ExAC,TOPMed,gnomAD
rs1455653538	p.Ala419Pro	missense variant	-	NC_000001.11:g.180190547G>C	gnomAD
rs759196856	p.Arg420Gly	missense variant	-	NC_000001.11:g.180190550C>G	ExAC,TOPMed,gnomAD
rs759196856	p.Arg420Trp	missense variant	-	NC_000001.11:g.180190550C>T	ExAC,TOPMed,gnomAD
rs373717097	p.Arg420Gln	missense variant	-	NC_000001.11:g.180190551G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1042530385	p.Gln421Lys	missense variant	-	NC_000001.11:g.180190553C>A	TOPMed,gnomAD
rs902569201	p.Gln421Pro	missense variant	-	NC_000001.11:g.180190554A>C	TOPMed
rs752199880	p.Asn422Asp	missense variant	-	NC_000001.11:g.180190556A>G	ExAC,gnomAD
rs1374795400	p.Val423Ala	missense variant	-	NC_000001.11:g.180190560T>C	gnomAD
NCI-TCGA novel	p.His425Gln	missense variant	-	NC_000001.11:g.180190567C>G	NCI-TCGA
rs762400138	p.His425Leu	missense variant	-	NC_000001.11:g.180190566A>T	ExAC,gnomAD
rs764057633	p.His425Gln	missense variant	-	NC_000001.11:g.180190567C>A	ExAC,TOPMed,gnomAD
rs1016751683	p.Gln427Lys	missense variant	-	NC_000001.11:g.180190571C>A	TOPMed,gnomAD
rs1016751683	p.Gln427Glu	missense variant	-	NC_000001.11:g.180190571C>G	TOPMed,gnomAD
rs1255195287	p.Gln427Arg	missense variant	-	NC_000001.11:g.180190572A>G	gnomAD
rs1379580568	p.Glu428Val	missense variant	-	NC_000001.11:g.180190575A>T	TOPMed
rs751544930	p.Ala430Thr	missense variant	-	NC_000001.11:g.180190580G>A	ExAC,TOPMed,gnomAD
rs1477620302	p.Lys433Glu	missense variant	-	NC_000001.11:g.180194221A>G	TOPMed,gnomAD
rs748251119	p.Lys433Arg	missense variant	-	NC_000001.11:g.180194222A>G	ExAC,gnomAD
rs772657236	p.Glu434Ala	missense variant	-	NC_000001.11:g.180194225A>C	ExAC,gnomAD
rs1456290108	p.Val435Ala	missense variant	-	NC_000001.11:g.180194228T>C	gnomAD
rs778453802	p.Leu436Phe	missense variant	-	NC_000001.11:g.180194230C>T	ExAC,TOPMed,gnomAD
rs771245325	p.Ala438Thr	missense variant	-	NC_000001.11:g.180194236G>A	ExAC,gnomAD
rs1465366923	p.Ile439Met	missense variant	-	NC_000001.11:g.180194241C>G	TOPMed
rs1296822033	p.Ile439Thr	missense variant	-	NC_000001.11:g.180194240T>C	TOPMed
rs1276146675	p.Ile439Val	missense variant	-	NC_000001.11:g.180194239A>G	TOPMed,gnomAD
rs369244005	p.Arg440Gln	missense variant	-	NC_000001.11:g.180194243G>A	ESP,ExAC,TOPMed,gnomAD
rs1339376551	p.Arg440Ter	stop gained	-	NC_000001.11:g.180194242C>T	gnomAD
rs1297034956	p.Gly441Val	missense variant	-	NC_000001.11:g.180194246G>T	gnomAD
rs770422054	p.Val443Leu	missense variant	-	NC_000001.11:g.180194251G>C	ExAC,TOPMed,gnomAD
rs770422054	p.Val443Met	missense variant	-	NC_000001.11:g.180194251G>A	ExAC,TOPMed,gnomAD
rs12371	p.His444Arg	missense variant	-	NC_000001.11:g.180194255A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1416488391	p.His444Tyr	missense variant	-	NC_000001.11:g.180194254C>T	TOPMed
rs761348578	p.Phe446Ile	missense variant	-	NC_000001.11:g.180194260T>A	ExAC,gnomAD
rs773186341	p.Gly448Ser	missense variant	-	NC_000001.11:g.180194266G>A	ExAC,TOPMed,gnomAD
rs1176416780	p.Cys449Arg	missense variant	-	NC_000001.11:g.180194269T>C	TOPMed
rs539884178	p.Cys449Trp	missense variant	-	NC_000001.11:g.180194271C>G	1000Genomes,gnomAD
rs766153769	p.Arg450Gln	missense variant	-	NC_000001.11:g.180194273G>A	ExAC,TOPMed,gnomAD
rs1422113978	p.Arg450Ter	stop gained	-	NC_000001.11:g.180194272C>T	gnomAD
rs1385785865	p.Cys452Ser	missense variant	-	NC_000001.11:g.180194279G>C	TOPMed,gnomAD
rs1385785865	p.Cys452Tyr	missense variant	-	NC_000001.11:g.180194279G>A	TOPMed,gnomAD
rs202144688	p.Ala453Thr	missense variant	-	NC_000001.11:g.180194281G>A	ESP,ExAC,TOPMed,gnomAD
rs202144688	p.Ala453Ser	missense variant	-	NC_000001.11:g.180194281G>T	ESP,ExAC,TOPMed,gnomAD
rs1359689586	p.Ala453Val	missense variant	-	NC_000001.11:g.180194282C>T	gnomAD
rs765577245	p.Ser454Gly	missense variant	-	NC_000001.11:g.180194284A>G	ExAC,gnomAD
rs141786318	p.His455Arg	missense variant	-	NC_000001.11:g.180194288A>G	ESP,TOPMed,gnomAD
rs758589984	p.Glu457Gln	missense variant	-	NC_000001.11:g.180194293G>C	ExAC,TOPMed,gnomAD
rs758589984	p.Glu457Lys	missense variant	-	NC_000001.11:g.180194293G>A	ExAC,TOPMed,gnomAD
rs758589984	p.Glu457Ter	stop gained	-	NC_000001.11:g.180194293G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln458His	missense variant	-	NC_000001.11:g.180194298G>C	NCI-TCGA
rs778400897	p.Met459Ile	missense variant	-	NC_000001.11:g.180194301G>A	ExAC,TOPMed,gnomAD
rs1248827252	p.Ala460Thr	missense variant	-	NC_000001.11:g.180194302G>A	gnomAD
rs372695733	p.Ala461Val	missense variant	-	NC_000001.11:g.180194306C>T	ExAC,gnomAD
rs372695733	p.Ala461Gly	missense variant	-	NC_000001.11:g.180194306C>G	ExAC,gnomAD
rs372695733	p.Ala461Asp	missense variant	-	NC_000001.11:g.180194306C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser463Cys	missense variant	-	NC_000001.11:g.180194312C>G	NCI-TCGA
rs1482439347	p.Met464Thr	missense variant	-	NC_000001.11:g.180194315T>C	TOPMed,gnomAD
rs781341728	p.Met464Val	missense variant	-	NC_000001.11:g.180194314A>G	ExAC,TOPMed,gnomAD
rs1182994532	p.His465Tyr	missense variant	-	NC_000001.11:g.180194317C>T	gnomAD
rs746254561	p.Arg466Trp	missense variant	-	NC_000001.11:g.180194320C>T	ExAC,TOPMed,gnomAD
rs546683425	p.Arg466Gln	missense variant	-	NC_000001.11:g.180194321G>A	1000Genomes,ExAC,TOPMed
rs143337247	p.Val467Met	missense variant	-	NC_000001.11:g.180194323G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM4025689	p.Val467Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180194323G>T	NCI-TCGA Cosmic
rs375868641	p.Gly468Glu	missense variant	-	NC_000001.11:g.180194327G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser469ValPheSerTerUnkUnkUnk	frameshift	-	NC_000001.11:g.180194325G>-	NCI-TCGA
NCI-TCGA novel	p.Ser469Ile	missense variant	-	NC_000001.11:g.180194330G>T	NCI-TCGA
rs771629082	p.Ser469Asn	missense variant	-	NC_000001.11:g.180194330G>A	ExAC,gnomAD
rs760465139	p.Asn471Lys	missense variant	-	NC_000001.11:g.180194337C>A	ExAC,gnomAD
rs773197994	p.Asn471Ser	missense variant	-	NC_000001.11:g.180194336A>G	ExAC,TOPMed,gnomAD
rs1440135295	p.Asn471His	missense variant	-	NC_000001.11:g.180194335A>C	TOPMed
rs759405690	p.Ala472Val	missense variant	-	NC_000001.11:g.180194339C>T	ExAC,gnomAD
rs535449667	p.Ala472Thr	missense variant	-	NC_000001.11:g.180194338G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs370455042	p.Ala473Ser	missense variant	-	NC_000001.11:g.180194341G>T	ESP,ExAC,TOPMed,gnomAD
rs370455042	p.Ala473Thr	missense variant	-	NC_000001.11:g.180194341G>A	ESP,ExAC,TOPMed,gnomAD
rs758535637	p.Val474Ala	missense variant	-	NC_000001.11:g.180194345T>C	ExAC,TOPMed,gnomAD
COSM3479439	p.Leu475Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180194347C>T	NCI-TCGA Cosmic
rs751660834	p.Trp476Ter	stop gained	-	NC_000001.11:g.180194351G>A	ExAC,TOPMed,gnomAD
rs1240014127	p.Trp476Cys	missense variant	-	NC_000001.11:g.180194352G>T	TOPMed
rs781739962	p.Trp478Gly	missense variant	-	NC_000001.11:g.180194356T>G	ExAC
rs746190261	p.Trp478Cys	missense variant	-	NC_000001.11:g.180194358G>T	ExAC
rs756523903	p.Ser479Phe	missense variant	-	NC_000001.11:g.180194360C>T	ExAC,TOPMed,gnomAD
rs1013295287	p.Ser480Gly	missense variant	-	NC_000001.11:g.180194362A>G	TOPMed
rs747863848	p.His481Tyr	missense variant	-	NC_000001.11:g.180194365C>T	ExAC,gnomAD
rs771716954	p.Asn482Ser	missense variant	-	NC_000001.11:g.180194369A>G	ExAC,gnomAD
NCI-TCGA novel	p.Val484Gly	missense variant	-	NC_000001.11:g.180194375T>G	NCI-TCGA
rs116570033	p.Asn485Ser	missense variant	-	NC_000001.11:g.180194378A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs184302868	p.Ala486Gly	missense variant	-	NC_000001.11:g.180194381C>G	1000Genomes,ExAC,gnomAD
rs746553088	p.Ala486Thr	missense variant	-	NC_000001.11:g.180194380G>A	ExAC,gnomAD
rs776668054	p.Arg487Cys	missense variant	-	NC_000001.11:g.180194383C>T	ExAC,gnomAD
rs145185695	p.Arg487His	missense variant	-	NC_000001.11:g.180194384G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61734470	p.Ala491Asp	missense variant	-	NC_000001.11:g.180196265C>A	TOPMed,gnomAD
rs770523926	p.Ala491Thr	missense variant	-	NC_000001.11:g.180196264G>A	ExAC,TOPMed,gnomAD
rs770523926	p.Ala491Ser	missense variant	-	NC_000001.11:g.180196264G>T	ExAC,TOPMed,gnomAD
rs1396624860	p.Pro492His	missense variant	-	NC_000001.11:g.180196268C>A	TOPMed,gnomAD
rs1396624860	p.Pro492Leu	missense variant	-	NC_000001.11:g.180196268C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser493Asn	missense variant	-	NC_000001.11:g.180196271G>A	NCI-TCGA
rs1406736295	p.Ser493Cys	missense variant	-	NC_000001.11:g.180196270A>T	TOPMed
rs1331424604	p.Glu494Lys	missense variant	-	NC_000001.11:g.180196273G>A	TOPMed,gnomAD
rs1404708703	p.Asp495Asn	missense variant	-	NC_000001.11:g.180196276G>A	gnomAD
rs745863052	p.Pro496Ser	missense variant	-	NC_000001.11:g.180196279C>T	ExAC,gnomAD
rs1216450543	p.Val501Leu	missense variant	-	NC_000001.11:g.180196294G>C	TOPMed,gnomAD
rs1216450543	p.Val501Leu	missense variant	-	NC_000001.11:g.180196294G>T	TOPMed,gnomAD
rs1490184654	p.Trp503Cys	missense variant	-	NC_000001.11:g.180196302G>T	gnomAD
rs1490184654	p.Trp503Cys	missense variant	-	NC_000001.11:g.180196302G>C	gnomAD
rs768732972	p.Pro505Leu	missense variant	-	NC_000001.11:g.180196307C>T	ExAC,gnomAD
rs1222870480	p.Pro505Ser	missense variant	-	NC_000001.11:g.180196306C>T	gnomAD
rs890851198	p.Arg506Gly	missense variant	-	NC_000001.11:g.180196309C>G	TOPMed,gnomAD
rs774684977	p.Arg506His	missense variant	-	NC_000001.11:g.180196310G>A	ExAC,TOPMed,gnomAD
rs890851198	p.Arg506Cys	missense variant	-	NC_000001.11:g.180196309C>T	TOPMed,gnomAD
rs772718356	p.Leu508Phe	missense variant	-	NC_000001.11:g.180196315C>T	gnomAD
rs1161011835	p.Cys512Tyr	missense variant	-	NC_000001.11:g.180196328G>A	gnomAD
rs1160833411	p.His513Arg	missense variant	-	NC_000001.11:g.180196331A>G	gnomAD
rs776072163	p.His513Tyr	missense variant	-	NC_000001.11:g.180196330C>T	ExAC,gnomAD
COSM3479441	p.His513Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180196332C>G	NCI-TCGA Cosmic
rs750506970	p.Asn514Ser	missense variant	-	NC_000001.11:g.180196334A>G	ExAC,TOPMed,gnomAD
rs1424597642	p.Asn514Asp	missense variant	-	NC_000001.11:g.180196333A>G	gnomAD
rs761113490	p.Arg516Cys	missense variant	-	NC_000001.11:g.180196339C>T	ExAC,gnomAD
rs747395265	p.Arg516His	missense variant	-	NC_000001.11:g.180196340G>A	ExAC,TOPMed,gnomAD
rs1050923123	p.Leu517Pro	missense variant	-	NC_000001.11:g.180196343T>C	TOPMed
NCI-TCGA novel	p.Val519GlyPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.180196348_180196349insGC	NCI-TCGA
rs777266980	p.Val521Leu	missense variant	-	NC_000001.11:g.180196354G>C	ExAC,gnomAD
rs777266980	p.Val521Met	missense variant	-	NC_000001.11:g.180196354G>A	ExAC,gnomAD
rs780683008	p.Val524Met	missense variant	-	NC_000001.11:g.180196363G>A	ExAC,gnomAD
rs141221660	p.Glu525Asp	missense variant	-	NC_000001.11:g.180196368A>C	ESP,ExAC,TOPMed,gnomAD
COSM267297	p.Glu525Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180196367A>G	NCI-TCGA Cosmic
rs61734471	p.Ala526Thr	missense variant	-	NC_000001.11:g.180196369G>A	ExAC,gnomAD
rs369889941	p.Ala526Gly	missense variant	-	NC_000001.11:g.180196370C>G	ESP,ExAC,TOPMed,gnomAD
rs1448441221	p.Thr527Ala	missense variant	-	NC_000001.11:g.180196372A>G	TOPMed,gnomAD
rs1184703991	p.Leu528Phe	missense variant	-	NC_000001.11:g.180196375C>T	gnomAD
rs1164740001	p.Phe530Leu	missense variant	-	NC_000001.11:g.180196383C>G	gnomAD
rs1444520490	p.Phe530Cys	missense variant	-	NC_000001.11:g.180196382T>G	gnomAD
rs749072891	p.Leu531Phe	missense variant	-	NC_000001.11:g.180196384C>T	ExAC,gnomAD
rs1052719604	p.Phe535Leu	missense variant	-	NC_000001.11:g.180196398C>A	TOPMed,gnomAD
rs774436755	p.Ser536Phe	missense variant	-	NC_000001.11:g.180196400C>T	ExAC,TOPMed,gnomAD
rs1480726631	p.Pro537Leu	missense variant	-	NC_000001.11:g.180196403C>T	TOPMed
rs748339535	p.Ser538Gly	missense variant	-	NC_000001.11:g.180196405A>G	ExAC,TOPMed,gnomAD
rs1184587959	p.Asn539Asp	missense variant	-	NC_000001.11:g.180196408A>G	TOPMed
rs1485411368	p.Asn539Ser	missense variant	-	NC_000001.11:g.180196409A>G	TOPMed
rs772197584	p.Asn539Lys	missense variant	-	NC_000001.11:g.180196410C>A	ExAC,gnomAD
rs1241808146	p.Ile540Val	missense variant	-	NC_000001.11:g.180196411A>G	TOPMed
rs760776345	p.Asp543Gly	missense variant	-	NC_000001.11:g.180196421A>G	ExAC,TOPMed,gnomAD
COSM6122962	p.Phe544Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180196425C>G	NCI-TCGA Cosmic
rs1333967488	p.Pro545Thr	missense variant	-	NC_000001.11:g.180196426C>A	gnomAD
rs766838466	p.Ala547Val	missense variant	-	NC_000001.11:g.180196433C>T	ExAC,gnomAD
rs1404210543	p.Gly548Val	missense variant	-	NC_000001.11:g.180196436G>T	gnomAD
rs1466373593	p.Ala551Pro	missense variant	-	NC_000001.11:g.180196444G>C	TOPMed
rs140386908	p.Arg552Trp	missense variant	-	NC_000001.11:g.180196447C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200810469	p.Arg552Gln	missense variant	-	NC_000001.11:g.180196448G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Asp554Asn	missense variant	-	NC_000001.11:g.180196453G>A	NCI-TCGA
rs753004589	p.Asp554Gly	missense variant	-	NC_000001.11:g.180196454A>G	ExAC,TOPMed,gnomAD
rs372325318	p.Asp554Tyr	missense variant	-	NC_000001.11:g.180196453G>T	ESP,ExAC,TOPMed,gnomAD
rs1372325126	p.Val555Met	missense variant	-	NC_000001.11:g.180196456G>A	TOPMed
rs1245502869	p.Val558Ala	missense variant	-	NC_000001.11:g.180196466T>C	gnomAD
rs767298570	p.Ala559Thr	missense variant	-	NC_000001.11:g.180196468G>A	ExAC,gnomAD
rs749909091	p.Ala560Thr	missense variant	-	NC_000001.11:g.180196471G>A	ExAC,gnomAD
rs755737821	p.Ala560Asp	missense variant	-	NC_000001.11:g.180196472C>A	ExAC,TOPMed,gnomAD
rs755737821	p.Ala560Gly	missense variant	-	NC_000001.11:g.180196472C>G	ExAC,TOPMed,gnomAD
rs778712755	p.Ala561Thr	missense variant	-	NC_000001.11:g.180196474G>A	ExAC,gnomAD
rs199773489	p.Pro562Ser	missense variant	-	NC_000001.11:g.180196477C>T	ExAC,gnomAD
rs199773489	p.Pro562Thr	missense variant	-	NC_000001.11:g.180196477C>A	ExAC,gnomAD
rs772298509	p.Ala565Val	missense variant	-	NC_000001.11:g.180196487C>T	ExAC,TOPMed,gnomAD
rs534601334	p.Ala568Ser	missense variant	-	NC_000001.11:g.180196495G>T	1000Genomes,TOPMed
rs377194304	p.Glu570Val	missense variant	-	NC_000001.11:g.180196502A>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu572Gln	missense variant	-	NC_000001.11:g.180196507G>C	NCI-TCGA
rs139346294	p.Glu572Ala	missense variant	-	NC_000001.11:g.180196508A>C	ESP,ExAC,TOPMed,gnomAD
rs763254777	p.Ser573Asn	missense variant	-	NC_000001.11:g.180196511G>A	ExAC,gnomAD
rs750160362	p.Arg574Gln	missense variant	-	NC_000001.11:g.180196514G>A	ExAC,TOPMed,gnomAD
rs371276500	p.Arg574Trp	missense variant	-	NC_000001.11:g.180196513C>T	ExAC,TOPMed,gnomAD
rs1251925440	p.Asn575Ser	missense variant	-	NC_000001.11:g.180196517A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Thr577Asn	missense variant	-	NC_000001.11:g.180196523C>A	NCI-TCGA
rs1421233131	p.Thr577Ala	missense variant	-	NC_000001.11:g.180196522A>G	gnomAD
NCI-TCGA novel	p.Leu578Met	missense variant	-	NC_000001.11:g.180196525C>A	NCI-TCGA
rs1428856833	p.Leu578Pro	missense variant	-	NC_000001.11:g.180196526T>C	gnomAD
rs755684560	p.Asp579Glu	missense variant	-	NC_000001.11:g.180196530C>G	ExAC,TOPMed,gnomAD
COSM3789179	p.Asp579Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180196529A>G	NCI-TCGA Cosmic
rs368869048	p.Pro580Ser	missense variant	-	NC_000001.11:g.180196531C>T	ESP,ExAC,TOPMed,gnomAD
rs149764502	p.Pro583Thr	missense variant	-	NC_000001.11:g.180196540C>A	ESP,ExAC,TOPMed,gnomAD
rs1258347651	p.Glu584Asp	missense variant	-	NC_000001.11:g.180196545G>T	TOPMed
NCI-TCGA novel	p.Met586Ile	missense variant	-	NC_000001.11:g.180196551G>T	NCI-TCGA
rs1461579660	p.Lys587Glu	missense variant	-	NC_000001.11:g.180196552A>G	gnomAD
rs1298658140	p.Lys587Asn	missense variant	-	NC_000001.11:g.180196554G>C	gnomAD
rs1402862279	p.Pro589Ala	missense variant	-	NC_000001.11:g.180196558C>G	gnomAD
rs778749101	p.Thr590Lys	missense variant	-	NC_000001.11:g.180196562C>A	ExAC,gnomAD
rs754895324	p.Thr590Pro	missense variant	-	NC_000001.11:g.180196561A>C	ExAC,TOPMed,gnomAD
rs3738115	p.Asn591His	missense variant	-	NC_000001.11:g.180196564A>C	UniProt,dbSNP
VAR_027434	p.Asn591His	missense variant	-	NC_000001.11:g.180196564A>C	UniProt
rs3738115	p.Asn591His	missense variant	-	NC_000001.11:g.180196564A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3738115	p.Asn591Asp	missense variant	-	NC_000001.11:g.180196564A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373356972	p.Thr592Ile	missense variant	-	NC_000001.11:g.180196568C>T	ESP,ExAC,gnomAD
rs747297302	p.Thr593Asn	missense variant	-	NC_000001.11:g.180196571C>A	ExAC,gnomAD
rs377701409	p.Pro594Arg	missense variant	-	NC_000001.11:g.180196574C>G	ESP,ExAC,TOPMed,gnomAD
rs377701409	p.Pro594Leu	missense variant	-	NC_000001.11:g.180196574C>T	ESP,ExAC,TOPMed,gnomAD
rs377701409	p.Pro594Gln	missense variant	-	NC_000001.11:g.180196574C>A	ESP,ExAC,TOPMed,gnomAD
rs745952925	p.His595Tyr	missense variant	-	NC_000001.11:g.180196576C>T	ExAC,TOPMed,gnomAD
rs145708234	p.Pro597Leu	missense variant	-	NC_000001.11:g.180196583C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763365614	p.Ala598Gly	missense variant	-	NC_000001.11:g.180196586C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro601Ser	missense variant	-	NC_000001.11:g.180196594C>T	NCI-TCGA
rs1427977648	p.Glu602Val	missense variant	-	NC_000001.11:g.180196598A>T	gnomAD
rs1460301153	p.Glu602Asp	missense variant	-	NC_000001.11:g.180196599G>C	TOPMed
rs943829796	p.Arg605Ter	stop gained	-	NC_000001.11:g.180196606C>T	TOPMed
rs16855466	p.Arg605Pro	missense variant	-	NC_000001.11:g.180196607G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs16855466	p.Arg605Gln	missense variant	-	NC_000001.11:g.180196607G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1442514866	p.Pro606Leu	missense variant	-	NC_000001.11:g.180196610C>T	TOPMed
rs900708947	p.Pro607Leu	missense variant	-	NC_000001.11:g.180196613C>T	TOPMed,gnomAD
COSM276972	p.Lys608Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180196616A>C	NCI-TCGA Cosmic
rs576487401	p.Leu609Pro	missense variant	-	NC_000001.11:g.180196619T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1286734921	p.His610Gln	missense variant	-	NC_000001.11:g.180196623C>G	gnomAD
rs759009358	p.His610Tyr	missense variant	-	NC_000001.11:g.180196621C>T	ExAC,gnomAD
rs188075416	p.Ala615Val	missense variant	-	NC_000001.11:g.180196637C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765200195	p.Ala615Pro	missense variant	-	NC_000001.11:g.180196636G>C	ExAC,TOPMed,gnomAD
rs934609938	p.Ala616Thr	missense variant	-	NC_000001.11:g.180196639G>A	TOPMed
rs758183111	p.Pro617Ser	missense variant	-	NC_000001.11:g.180196642C>T	ExAC,TOPMed,gnomAD
rs758183111	p.Pro617Ala	missense variant	-	NC_000001.11:g.180196642C>G	ExAC,TOPMed,gnomAD
rs1178984858	p.Gly618Ser	missense variant	-	NC_000001.11:g.180196645G>A	gnomAD
rs1207786495	p.His624Arg	missense variant	-	NC_000001.11:g.180196664A>G	TOPMed
rs1290648922	p.Met625Thr	missense variant	-	NC_000001.11:g.180196667T>C	TOPMed
rs572384509	p.Met625Ile	missense variant	-	NC_000001.11:g.180196668G>A	1000Genomes,ExAC,gnomAD
rs757417915	p.Ala626Thr	missense variant	-	NC_000001.11:g.180196669G>A	ExAC
rs541418036	p.Glu627Ter	stop gained	-	NC_000001.11:g.180196672G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs561189484	p.Glu627Val	missense variant	-	NC_000001.11:g.180196673A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs780609204	p.Leu628Phe	missense variant	-	NC_000001.11:g.180196675C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln629His	missense variant	-	NC_000001.11:g.180196680G>C	NCI-TCGA
rs111896334	p.Gln629Arg	missense variant	-	NC_000001.11:g.180196679A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs374263010	p.Glu632Asp	missense variant	-	NC_000001.11:g.180196689G>T	ESP,ExAC,TOPMed,gnomAD
rs1250004279	p.Glu632Gly	missense variant	-	NC_000001.11:g.180196688A>G	gnomAD
NCI-TCGA novel	p.Pro636Ala	missense variant	-	NC_000001.11:g.180196699C>G	NCI-TCGA
rs199822437	p.Pro636Leu	missense variant	-	NC_000001.11:g.180196700C>T	ExAC,TOPMed,gnomAD
rs199822437	p.Pro636Gln	missense variant	-	NC_000001.11:g.180196700C>A	ExAC,TOPMed,gnomAD
COSM5613838	p.Leu642Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180196719G>C	NCI-TCGA Cosmic
rs1000170006	p.Lys644Asn	missense variant	-	NC_000001.11:g.180196725G>T	gnomAD
rs776197029	p.Arg645Gln	missense variant	-	NC_000001.11:g.180196727G>A	ExAC,TOPMed,gnomAD
rs140786869	p.Arg645Ter	stop gained	-	NC_000001.11:g.180196726C>T	ESP,ExAC,TOPMed,gnomAD
rs1344173908	p.Thr647Ala	missense variant	-	NC_000001.11:g.180196732A>G	TOPMed,gnomAD
rs1344173908	p.Thr647Ser	missense variant	-	NC_000001.11:g.180196732A>T	TOPMed,gnomAD
rs1157050302	p.Gly648Glu	missense variant	-	NC_000001.11:g.180196736G>A	TOPMed
rs764718908	p.Ala650Pro	missense variant	-	NC_000001.11:g.180196741G>C	ExAC,gnomAD
rs762819622	p.Ala653Val	missense variant	-	NC_000001.11:g.180196751C>T	ExAC,gnomAD
rs199712670	p.Ala653Pro	missense variant	-	NC_000001.11:g.180196750G>C	ESP,ExAC,TOPMed,gnomAD
rs1230322109	p.Ser655Phe	missense variant	-	NC_000001.11:g.180196757C>T	gnomAD
rs1489980091	p.Arg656Gly	missense variant	-	NC_000001.11:g.180196759A>G	TOPMed
rs751312012	p.Lys659Arg	missense variant	-	NC_000001.11:g.180196769A>G	ExAC,gnomAD
COSM1336787	p.Lys659Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180196770G>T	NCI-TCGA Cosmic
rs563293523	p.Arg661His	missense variant	-	NC_000001.11:g.180196775G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1235654162	p.Arg661Cys	missense variant	-	NC_000001.11:g.180196774C>T	TOPMed,gnomAD
rs532331265	p.Trp663Ter	stop gained	-	NC_000001.11:g.180196782G>A	1000Genomes,ExAC,gnomAD
rs1358068605	p.Trp663Ter	stop gained	-	NC_000001.11:g.180196781G>A	TOPMed
rs1207012845	p.Val668Ala	missense variant	-	NC_000001.11:g.180196796T>C	gnomAD
rs1057493686	p.Arg670His	missense variant	-	NC_000001.11:g.180196802G>A	TOPMed,gnomAD
rs749405195	p.Arg670Cys	missense variant	-	NC_000001.11:g.180196801C>T	ExAC,TOPMed,gnomAD
rs1057493686	p.Arg670Leu	missense variant	-	NC_000001.11:g.180196802G>T	TOPMed,gnomAD
rs779603808	p.Val671Met	missense variant	-	NC_000001.11:g.180196804G>A	ExAC,TOPMed,gnomAD
rs748502660	p.Gly672Asp	missense variant	-	NC_000001.11:g.180196808G>A	ExAC,TOPMed,gnomAD
rs772379731	p.Arg673Gly	missense variant	-	NC_000001.11:g.180196810C>G	ExAC
rs144062716	p.Arg673His	missense variant	-	NC_000001.11:g.180196811G>A	ESP,ExAC,TOPMed,gnomAD
rs772379731	p.Arg673Cys	missense variant	-	NC_000001.11:g.180196810C>T	ExAC
rs774813974	p.Ser674Arg	missense variant	-	NC_000001.11:g.180196815C>G	ExAC,TOPMed,gnomAD
rs150976230	p.Lys676Arg	missense variant	-	NC_000001.11:g.180196820A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs763985179	p.Gln677Arg	missense variant	-	NC_000001.11:g.180196823A>G	ExAC,gnomAD
rs1192938390	p.Asp680Asn	missense variant	-	NC_000001.11:g.180196831G>A	TOPMed,gnomAD
rs1450841635	p.Ile681Val	missense variant	-	NC_000001.11:g.180196834A>G	gnomAD
rs1393149609	p.Pro682Ala	missense variant	-	NC_000001.11:g.180196837C>G	TOPMed,gnomAD
rs1451124969	p.Glu683Lys	missense variant	-	NC_000001.11:g.180196840G>A	gnomAD
rs750248908	p.Gly684Ser	missense variant	-	NC_000001.11:g.180196843G>A	ExAC,gnomAD
rs756245355	p.Gly684Asp	missense variant	-	NC_000001.11:g.180196844G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln685His	missense variant	-	NC_000001.11:g.180196848G>T	NCI-TCGA
rs755159325	p.Arg689Pro	missense variant	-	NC_000001.11:g.180196859G>C	ExAC,TOPMed,gnomAD
rs755159325	p.Arg689Gln	missense variant	-	NC_000001.11:g.180196859G>A	ExAC,TOPMed,gnomAD
rs753939034	p.Arg689Ter	stop gained	-	NC_000001.11:g.180196858C>T	ExAC,gnomAD
rs1444022475	p.Ala690Pro	missense variant	-	NC_000001.11:g.180196861G>C	gnomAD
rs779550674	p.Ala690Gly	missense variant	-	NC_000001.11:g.180196862C>G	ExAC,TOPMed,gnomAD
rs141474961	p.Arg692Trp	missense variant	-	NC_000001.11:g.180196867C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758947386	p.Arg692Gln	missense variant	-	NC_000001.11:g.180196868G>A	ExAC,gnomAD
rs139923113	p.Gly693Cys	missense variant	-	NC_000001.11:g.180196870G>T	ESP,ExAC,TOPMed,gnomAD
rs139923113	p.Gly693Ser	missense variant	-	NC_000001.11:g.180196870G>A	ESP,ExAC,TOPMed,gnomAD
rs1283812989	p.Gly693Asp	missense variant	-	NC_000001.11:g.180196871G>A	TOPMed
rs768210394	p.Arg694Gln	missense variant	-	NC_000001.11:g.180196874G>A	ExAC,TOPMed,gnomAD
rs147334523	p.Arg694Ter	stop gained	-	NC_000001.11:g.180196873C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1327414469	p.Gln696Ter	stop gained	-	NC_000001.11:g.180196879C>T	gnomAD
rs767513827	p.Val700Leu	missense variant	-	NC_000001.11:g.180196891G>T	ExAC,gnomAD
rs1310243697	p.Val700Gly	missense variant	-	NC_000001.11:g.180196892T>G	gnomAD
rs767513827	p.Val700Met	missense variant	-	NC_000001.11:g.180196891G>A	ExAC,gnomAD
rs760562342	p.Gly702Glu	missense variant	-	NC_000001.11:g.180196898G>A	ExAC,gnomAD
COSM377376	p.Gly702Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.180196897G>T	NCI-TCGA Cosmic
rs766491497	p.Gly703Arg	missense variant	-	NC_000001.11:g.180196900G>A	ExAC,gnomAD
rs766491497	p.Gly703Trp	missense variant	-	NC_000001.11:g.180196900G>T	ExAC,gnomAD
rs1212940409	p.Gly704Asp	missense variant	-	NC_000001.11:g.180196904G>A	gnomAD
rs1212940409	p.Gly704Val	missense variant	-	NC_000001.11:g.180196904G>T	gnomAD
rs1272194311	p.Ser706Phe	missense variant	-	NC_000001.11:g.180196910C>T	gnomAD
rs1381863853	p.Leu708Pro	missense variant	-	NC_000001.11:g.180196916T>C	TOPMed
rs1389598074	p.Asp709His	missense variant	-	NC_000001.11:g.180196918G>C	TOPMed
rs556438247	p.Ile710Val	missense variant	-	NC_000001.11:g.180196921A>G	1000Genomes,ExAC,gnomAD
rs1468272104	p.Ser711Gly	missense variant	-	NC_000001.11:g.180196924A>G	TOPMed
rs765339427	p.Ser711Thr	missense variant	-	NC_000001.11:g.180196925G>C	ExAC,gnomAD
rs752834455	p.Leu712Phe	missense variant	-	NC_000001.11:g.180196927C>T	ExAC,gnomAD
COSM3863753	p.Leu712Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180196927C>A	NCI-TCGA Cosmic
rs1166882888	p.Cys713Ser	missense variant	-	NC_000001.11:g.180196931G>C	gnomAD
COSM4025692	p.Cys713Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180196930T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr717CysPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.180196943_180196968ATTCCCTGTCCTTCATGGGCCTGCTG>-	NCI-TCGA
rs370692084	p.Tyr717Ter	stop gained	-	NC_000001.11:g.180196944T>G	ESP,ExAC,TOPMed,gnomAD
rs1364136640	p.Ser720Phe	missense variant	-	NC_000001.11:g.180196952C>T	gnomAD
NCI-TCGA novel	p.Phe721Leu	missense variant	-	NC_000001.11:g.180196956C>A	NCI-TCGA
rs751838981	p.Phe721Ser	missense variant	-	NC_000001.11:g.180196955T>C	ExAC,TOPMed,gnomAD
rs201396414	p.Met722Leu	missense variant	-	NC_000001.11:g.180196957A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201396414	p.Met722Val	missense variant	-	NC_000001.11:g.180196957A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749004648	p.Met722Arg	missense variant	-	NC_000001.11:g.180196958T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala726Val	missense variant	-	NC_000001.11:g.180196970C>T	NCI-TCGA
rs896488956	p.Tyr728Cys	missense variant	-	NC_000001.11:g.180196976A>G	TOPMed
rs778346262	p.Thr729Ile	missense variant	-	NC_000001.11:g.180196979C>T	ExAC,TOPMed,gnomAD
rs1289553184	p.Thr729Pro	missense variant	-	NC_000001.11:g.180196978A>C	gnomAD
rs771872847	p.Ile735Val	missense variant	-	NC_000001.11:g.180196996A>G	ExAC,gnomAD
rs367984649	p.Ile735Met	missense variant	-	NC_000001.11:g.180196998A>G	ESP,ExAC,TOPMed,gnomAD
rs539208834	p.Arg736Ser	missense variant	-	NC_000001.11:g.180197001G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs145813833	p.Ala737Ser	missense variant	-	NC_000001.11:g.180197002G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1191026986	p.Leu738Val	missense variant	-	NC_000001.11:g.180197005C>G	TOPMed,gnomAD
rs776574445	p.Lys739Ter	stop gained	-	NC_000001.11:g.180197008A>T	ExAC,TOPMed,gnomAD
rs776574445	p.Lys739Gln	missense variant	-	NC_000001.11:g.180197008A>C	ExAC,TOPMed,gnomAD
rs1424415803	p.Gly740Val	missense variant	-	NC_000001.11:g.180197012G>T	gnomAD
rs372495097	p.His741Arg	missense variant	-	NC_000001.11:g.180197015A>G	ESP,ExAC,TOPMed,gnomAD
rs1317676454	p.Ter748Arg	stop lost	-	NC_000001.11:g.180197035T>C	gnomAD
rs1227843278	p.Ter748Ser	stop lost	-	NC_000001.11:g.180197036G>C	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0013146	Drug abuse	disease	CTD_human
C0013170	Drug habituation	phenotype	CTD_human
C0013222	Drug Use Disorders	group	CTD_human
C0013274	Patent ductus arteriosus	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0029231	Organic Mental Disorders, Substance-Induced	disease	CTD_human
C0030297	Pancreatic Neoplasm	disease	BEFREE
C0038580	Substance Dependence	disease	CTD_human
C0038586	Substance Use Disorders	group	CTD_human
C0220708	VATER Association	disease	MGD
C0235974	Pancreatic carcinoma	disease	BEFREE
C0236969	Substance-Related Disorders	group	CTD_human
C0281361	Adenocarcinoma of pancreas	disease	BEFREE
C0282612	Prostatic Intraepithelial Neoplasias	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0740457	Malignant neoplasm of kidney	disease	BEFREE
C0740858	Substance abuse problem	disease	CTD_human
C0853879	Invasive carcinoma of breast	disease	BEFREE
C1176475	Ductal Carcinoma	disease	BEFREE
C1335302	Pancreatic Ductal Adenocarcinoma	disease	BEFREE
C1378703	Renal carcinoma	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE
C1510472	Drug Dependence	phenotype	CTD_human
C1704272	Benign Prostatic Hyperplasia	disease	BEFREE
C2937421	Prostatic Hyperplasia	disease	BEFREE
C3642346	Luminal B Breast Carcinoma	disease	BEFREE
C4316881	Prescription Drug Abuse	phenotype	CTD_human

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003756	protein disulfide isomerase activity	IDA
GO:0003756	protein disulfide isomerase activity	IBA
GO:0016971	flavin-linked sulfhydryl oxidase activity	IDA
GO:0016971	flavin-linked sulfhydryl oxidase activity	IBA
GO:0071949	FAD binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0002576	platelet degranulation	TAS
GO:0006457	protein folding	IBA
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:0085029	extracellular matrix assembly	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000139	Golgi membrane	IDA
GO:0005576	extracellular region	TAS
GO:0005615	extracellular space	IDA
GO:0005615	extracellular space	HDA
GO:0005615	extracellular space	IBA
GO:0005623	cell	IEA
GO:0005788	endoplasmic reticulum lumen	TAS
GO:0005794	Golgi apparatus	IDA
GO:0030173	integral component of Golgi membrane	IDA
GO:0030173	integral component of Golgi membrane	IBA
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:0070062	extracellular exosome	HDA
GO:1904724	tertiary granule lumen	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-109582	Hemostasis	TAS
R-HSA-114608	Platelet degranulation	TAS
R-HSA-168249	Innate Immune System	TAS
R-HSA-168256	Immune System	TAS
R-HSA-381426	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)	TAS
R-HSA-392499	Metabolism of proteins	TAS
R-HSA-597592	Post-translational protein modification	TAS
R-HSA-6798695	Neutrophil degranulation	TAS
R-HSA-76002	Platelet activation, signaling and aggregation	TAS
R-HSA-76005	Response to elevated platelet cytosolic Ca2+	TAS
R-HSA-8957275	Post-translational protein phosphorylation	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in decreased expression of QSOX1 mRNA	28903501
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in increased expression of QSOX1 mRNA	21354444
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	2,4,5,2',4',5'-hexachlorobiphenyl affects the expression of QSOX1 mRNA	20638727
D000082	Acetaminophen	Acetaminophen affects the expression of QSOX1 mRNA	17562736
D020106	Acrylamide	Acrylamide affects the expression of QSOX1 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of QSOX1 mRNA	22100608
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of QSOX1 gene	27153756
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of QSOX1 mRNA	16483693
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of QSOX1 mRNA	19128835
C015001	arsenite	arsenite results in increased expression of QSOX1 mRNA	18191166
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of QSOX1 mRNA	22316170
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of QSOX1 mRNA	21569818
C006780	bisphenol A	bisphenol A results in increased expression of QSOX1 mRNA	30248606
C006780	bisphenol A	bisphenol A results in increased expression of QSOX1 mRNA	25181051
C027561	butylbenzyl phthalate	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate co-treated with diisononyl phthalate co-treated with diisobutyl phthalate co-treated with butylbenzyl phthalate] results in decreased expression of QSOX1 mRNA	31199487
C038091	butylparaben	butylparaben results in decreased expression of QSOX1 mRNA	29458080
D002117	Calcitriol	Calcitriol results in increased expression of QSOX1 mRNA	21592394
D002117	Calcitriol	[Testosterone co-treated with Calcitriol] results in increased expression of QSOX1 mRNA	21592394
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of QSOX1 mRNA	31150632
D002737	Chloroprene	Chloroprene results in increased expression of QSOX1 mRNA	23125180
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of QSOX1 gene	20938992
D002945	Cisplatin	Cisplatin results in decreased expression of QSOX1 mRNA	27392435
D002945	Cisplatin	QSOX1 protein results in decreased susceptibility to Cisplatin	16734730
D002994	Clofibrate	Clofibrate results in decreased expression of QSOX1 mRNA	17585979
D003300	Copper	[NSC 689534 binds to Copper] which results in increased expression of QSOX1 mRNA	20971185
D019327	Copper Sulfate	Copper Sulfate results in increased expression of QSOX1 mRNA	19549813
D003345	Corticosterone	Corticosterone results in increased expression of QSOX1 mRNA	15755911
D016572	Cyclosporine	Cyclosporine results in increased expression of QSOX1 mRNA	20106945; 27989131;
D003993	Dibutyl Phthalate	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate co-treated with diisononyl phthalate co-treated with diisobutyl phthalate co-treated with butylbenzyl phthalate] results in decreased expression of QSOX1 mRNA	31199487
D004008	Diclofenac	Diclofenac results in increased expression of QSOX1 mRNA	26934552
C000944	dicrotophos	dicrotophos results in decreased expression of QSOX1 mRNA	28302478
D004051	Diethylhexyl Phthalate	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate co-treated with diisononyl phthalate co-treated with diisobutyl phthalate co-treated with butylbenzyl phthalate] results in decreased expression of QSOX1 mRNA	31199487
C007379	diethyl phthalate	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate co-treated with diisononyl phthalate co-treated with diisobutyl phthalate co-treated with butylbenzyl phthalate] results in decreased expression of QSOX1 mRNA	31199487
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of QSOX1 mRNA	15289156
C025605	diisobutyl phthalate	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate co-treated with diisononyl phthalate co-treated with diisobutyl phthalate co-treated with butylbenzyl phthalate] results in decreased expression of QSOX1 mRNA	31199487
C012125	diisononyl phthalate	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate co-treated with diisononyl phthalate co-treated with diisobutyl phthalate co-treated with butylbenzyl phthalate] results in decreased expression of QSOX1 mRNA	31199487
D004726	Endosulfan	Endosulfan results in increased expression of QSOX1 mRNA	29391264
D004958	Estradiol	Estradiol results in increased expression of QSOX1 mRNA	23019147
D004958	Estradiol	Estradiol results in increased expression of QSOX1 mRNA	15289156
D000431	Ethanol	Ethanol affects the splicing of QSOX1 mRNA	30319688
C082360	fipronil	fipronil results in decreased expression of QSOX1 mRNA	23962444
D005472	Fluorouracil	TP53 protein affects the reaction [Fluorouracil results in decreased expression of QSOX1 mRNA]	15016801
D005485	Flutamide	Flutamide results in increased expression of QSOX1 mRNA	24793618
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of QSOX1 gene	20938992
D005557	Formaldehyde	Formaldehyde results in increased expression of QSOX1 mRNA	18045764
C069837	fullerene C60	fullerene C60 results in increased expression of QSOX1 mRNA	19167457
D000077156	Gefitinib	Gefitinib results in increased expression of QSOX1 mRNA	16685379
D019833	Genistein	Genistein results in increased expression of QSOX1 mRNA	20884965; 23019147;
D019833	Genistein	Genistein results in increased expression of QSOX1 mRNA	15289156
D019833	Genistein	Genistein results in increased expression of QSOX1 mRNA	17341692
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in decreased expression of QSOX1 mRNA	12419474
C492448	ICG 001	ICG 001 results in decreased expression of QSOX1 mRNA	26191083
D019344	Lactic Acid	Lactic Acid results in decreased expression of QSOX1 mRNA	30851411
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of QSOX1 mRNA	22235868
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of QSOX1 mRNA	27339419
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased methylation of QSOX1 gene	21212295
D008070	Lipopolysaccharides	[Tetrachlorodibenzodioxin co-treated with Lipopolysaccharides] results in increased methylation of QSOX1 gene	21212295
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of QSOX1 gene	20938992
C013598	methoxyacetic acid	methoxyacetic acid promotes the reaction [Promegestone results in increased expression of QSOX1 mRNA]	15103026
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of QSOX1 mRNA	26011545
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of QSOX1 mRNA	26924002
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of QSOX1 mRNA	25554681; 25620056;
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of QSOX1 mRNA	25620056
C031721	naphthalene	naphthalene results in increased expression of QSOX1 mRNA	18978301
D009532	Nickel	Nickel results in decreased expression of QSOX1 mRNA	25583101
C028007	nickel monoxide	nickel monoxide results in increased expression of QSOX1 mRNA	19167457
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of QSOX1 mRNA	20188158; 26251327;
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in increased expression of QSOX1 mRNA	20971185
C558013	NSC 689534	NSC 689534 results in increased expression of QSOX1 mRNA	20971185
D000069463	Olive Oil	Olive Oil analog affects the expression of QSOX1 mRNA	17349074
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of QSOX1 mRNA	30529165
D017239	Paclitaxel	Paclitaxel results in decreased expression of QSOX1 mRNA	15000894
C016030	pantogab	pantogab results in increased expression of QSOX1 mRNA	17379144
C058305	phenethyl isothiocyanate	phenethyl isothiocyanate results in increased expression of QSOX1 mRNA	17616710
C006253	pirinixic acid	pirinixic acid results in decreased expression of QSOX1 mRNA	23811191
D011374	Progesterone	Progesterone results in decreased expression of QSOX1 mRNA	23012394
D011374	Progesterone	Progesterone results in increased expression of QSOX1 mRNA	19690047
D011374	Progesterone	Progesterone results in increased expression of QSOX1 mRNA	20726854
D011397	Promegestone	methoxyacetic acid promotes the reaction [Promegestone results in increased expression of QSOX1 mRNA]	15103026
D011397	Promegestone	Promegestone results in increased expression of QSOX1 mRNA	15103026
D011794	Quercetin	Quercetin results in increased expression of QSOX1 mRNA	21632981
D012822	Silicon Dioxide	Silicon Dioxide results in increased expression of QSOX1 mRNA	22431001
C017947	sodium arsenite	sodium arsenite results in decreased expression of QSOX1 mRNA	29361514
D012969	Sodium Fluoride	Sodium Fluoride results in increased expression of QSOX1 protein	28918527
C016766	sulforafan	sulforafan results in increased expression of QSOX1 mRNA	30529165
D000077210	Sunitinib	Sunitinib results in decreased expression of QSOX1 mRNA	31533062
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of QSOX1 mRNA	26141394
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in decreased expression of QSOX1 mRNA	12419474
D013739	Testosterone	[Testosterone co-treated with Calcitriol] results in increased expression of QSOX1 mRNA	21592394
D013739	Testosterone	Testosterone results in increased expression of QSOX1 mRNA	21592394
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of QSOX1 mRNA	20106945; 21632981;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of QSOX1 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Lipopolysaccharides] results in increased methylation of QSOX1 gene	21212295
D013853	Thioacetamide	Thioacetamide results in increased expression of QSOX1 mRNA	23411599
C009495	titanium dioxide	titanium dioxide results in increased expression of QSOX1 mRNA	30012374
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of QSOX1 protein	30291989
C012589	trichostatin A	trichostatin A affects the expression of QSOX1 mRNA	28542535
C012589	trichostatin A	trichostatin A results in increased expression of QSOX1 mRNA	15901671
D000077288	Troglitazone	Troglitazone results in increased expression of QSOX1 mRNA	19140230
D014520	Urethane	Urethane results in increased expression of QSOX1 mRNA	28818685
D014635	Valproic Acid	Valproic Acid results in increased expression of QSOX1 mRNA	19101580; 29154799;
D014635	Valproic Acid	Valproic Acid results in increased expression of QSOX1 mRNA	15901671
D014810	Vitamin E	Vitamin E results in increased expression of QSOX1 mRNA	19244175
D015032	Zinc	Zinc deficiency results in increased expression of QSOX1 mRNA	19111725

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-1015	Disulfide bond
KW-0274	FAD
KW-0285	Flavoprotein
KW-0325	Glycoprotein
KW-0333	Golgi apparatus
KW-0472	Membrane
KW-0560	Oxidoreductase
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR036774	ERV/ALR_sulphydryl_oxid_sf
IPR017905	ERV/ALR_sulphydryl_oxidase
IPR040986	QSOX_FAD-bd_dom
IPR042568	QSOX_FAD-bd_sf
IPR041269	QSOX_Trx1
IPR039798	Sulfhydryl_oxidase
IPR036249	Thioredoxin-like_sf
IPR013766	Thioredoxin_domain

PROSITE

PROSITE ID	PROSITE Term
PS51324	ERV_ALR
PS51352	THIOREDOXIN_2

Pfam

Pfam ID	Pfam Term
PF04777	Evr1_Alr
PF18371	FAD_SOX
PF18108	QSOX_Trx1
PF00085	Thioredoxin

Gene: QSOX1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction