Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 7 38805225 38805225 + Silent SNP G G C TCGA-XF-AAN3-01A-11D-A42E-08 TCGA-XF-AAN3-10A-01D-A42H-08 g.chr7:38805225G>C c.1284C>G c.(1282-1284)ctC>ctG p.L428L BLCA 7 38813721 38813721 + Missense_Mutation SNP G G A TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr7:38813721G>A c.1006C>T c.(1006-1008)Cat>Tat p.H336Y BLCA 7 38813788 38813788 + Silent SNP A A C TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 g.chr7:38813788A>C c.939T>G c.(937-939)acT>acG p.T313T BLCA 7 38816347 38816347 + Missense_Mutation SNP T T C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 g.chr7:38816347T>C c.814A>G c.(814-816)Agt>Ggt p.S272G BLCA 7 38835198 38835198 + Missense_Mutation SNP A A C TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr7:38835198A>C c.584T>G c.(583-585)tTt>tGt p.F195C BLCA 7 38860835 38860835 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 g.chr7:38860835C>G c.352G>C c.(352-354)Gaa>Caa p.E118Q BLCA 7 38860835 38860835 + Nonsense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr7:38860835C>A c.352G>T c.(352-354)Gaa>Taa p.E118* BRCA 7 38768370 38768370 + Missense_Mutation SNP T T C TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 g.chr7:38768370T>C c.2281A>G c.(2281-2283)Aag>Gag p.K761E BRCA 7 38796567 38796567 + Missense_Mutation SNP C C G TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 g.chr7:38796567C>G c.1566G>C c.(1564-1566)aaG>aaC p.K522N BRCA 7 38798012 38798012 + Silent SNP G G T TCGA-A7-A56D-01A-11D-A27P-09 TCGA-A7-A56D-10A-01D-A27P-09 g.chr7:38798012G>T c.1492C>A c.(1492-1494)Cgg>Agg p.R498R BRCA 7 38805245 38805245 + Missense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr7:38805245G>T c.1264C>A c.(1264-1266)Ctt>Att p.L422I BRCA 7 38807156 38807156 + Missense_Mutation SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 g.chr7:38807156C>T c.1228G>A c.(1228-1230)Gac>Aac p.D410N BRCA 7 38908751 38908751 + Missense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr7:38908751C>A c.163G>T c.(163-165)Gac>Tac p.D55Y BRCA 7 38908841 38908841 + Missense_Mutation SNP C C T TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 g.chr7:38908841C>T c.73G>A c.(73-75)Gaa>Aaa p.E25K CESC 7 38805239 38805239 + Missense_Mutation SNP T T C TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 g.chr7:38805239T>C c.1270A>G c.(1270-1272)Aaa>Gaa p.K424E CESC 7 38860835 38860835 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr7:38860835C>G c.352G>C c.(352-354)Gaa>Caa p.E118Q CHOL 7 38791865 38791865 + Missense_Mutation SNP G G T TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr7:38791865G>T c.1837C>A c.(1837-1839)Cat>Aat p.H613N CHOL 7 38860830 38860830 + Frame_Shift_Del DEL A A - TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr7:38860830delA c.357delT c.(355-357)tttfs p.F119fs COAD 7 38783010 38783010 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:38783010T>C c.2114A>G c.(2113-2115)gAc>gGc p.D705G COAD 7 38791873 38791873 + Missense_Mutation SNP T T C TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr7:38791873T>C c.1829A>G c.(1828-1830)cAg>cGg p.Q610R COAD 7 38791874 38791874 + Nonsense_Mutation SNP G G A TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr7:38791874G>A c.1828C>T c.(1828-1830)Cag>Tag p.Q610* COAD 7 38796483 38796483 + Silent SNP A A G TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr7:38796483A>G c.1650T>C c.(1648-1650)agT>agC p.S550S COAD 7 38796518 38796518 + Missense_Mutation SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr7:38796518C>T c.1615G>A c.(1615-1617)Gtt>Att p.V539I COAD 7 38796519 38796519 + Silent SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr7:38796519G>A c.1614C>T c.(1612-1614)gaC>gaT p.D538D COAD 7 38798012 38798012 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:38798012G>A c.1492C>T c.(1492-1494)Cgg>Tgg p.R498W COAD 7 38803102 38803102 + Missense_Mutation SNP G G A TCGA-AZ-6607-01A-11D-1835-10 TCGA-AZ-6607-11A-01D-1835-10 g.chr7:38803102G>A c.1375C>T c.(1375-1377)Ctc>Ttc p.L459F COAD 7 38805245 38805245 + Missense_Mutation SNP G G T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr7:38805245G>T c.1264C>A c.(1264-1266)Ctt>Att p.L422I COAD 7 38810819 38810820 + Frame_Shift_Ins INS - - T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr7:38810819_38810820insT c.1163_1164insA c.(1162-1164)aatfs p.N388fs COAD 7 38810821 38810821 + Missense_Mutation SNP T T A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:38810821T>A c.1162A>T c.(1162-1164)Aat>Tat p.N388Y COAD 7 38816280 38816281 + Splice_Site INS - - T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr7:38816280_38816281insT c.880_881insA c.(880-882)acg>aAcg p.T294fs COAD 7 38816307 38816307 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:38816307G>A c.854C>T c.(853-855)tCg>tTg p.S285L COAD 7 38835207 38835207 + Missense_Mutation SNP A A G TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr7:38835207A>G c.575T>C c.(574-576)gTg>gCg p.V192A COADREAD 7 38783010 38783010 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:38783010T>C c.2114A>G c.(2113-2115)gAc>gGc p.D705G COADREAD 7 38791872 38791872 + Silent SNP C C T TCGA-EI-6508-01A-11D-1733-10 TCGA-EI-6508-10A-01D-1733-10 g.chr7:38791872C>T c.1830G>A c.(1828-1830)caG>caA p.Q610Q COADREAD 7 38791873 38791873 + Missense_Mutation SNP T T C TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr7:38791873T>C c.1829A>G c.(1828-1830)cAg>cGg p.Q610R COADREAD 7 38791874 38791874 + Nonsense_Mutation SNP G G A TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr7:38791874G>A c.1828C>T c.(1828-1830)Cag>Tag p.Q610* COADREAD 7 38796483 38796483 + Silent SNP A A G TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr7:38796483A>G c.1650T>C c.(1648-1650)agT>agC p.S550S COADREAD 7 38796518 38796518 + Missense_Mutation SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr7:38796518C>T c.1615G>A c.(1615-1617)Gtt>Att p.V539I COADREAD 7 38796519 38796519 + Silent SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr7:38796519G>A c.1614C>T c.(1612-1614)gaC>gaT p.D538D COADREAD 7 38798012 38798012 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:38798012G>A c.1492C>T c.(1492-1494)Cgg>Tgg p.R498W COADREAD 7 38803102 38803102 + Missense_Mutation SNP G G A TCGA-AZ-6607-01A-11D-1835-10 TCGA-AZ-6607-11A-01D-1835-10 g.chr7:38803102G>A c.1375C>T c.(1375-1377)Ctc>Ttc p.L459F COADREAD 7 38805245 38805245 + Missense_Mutation SNP G G T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr7:38805245G>T c.1264C>A c.(1264-1266)Ctt>Att p.L422I COADREAD 7 38810819 38810820 + Frame_Shift_Ins INS - - T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr7:38810819_38810820insT c.1163_1164insA c.(1162-1164)aatfs p.N388fs COADREAD 7 38810821 38810821 + Missense_Mutation SNP T T A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:38810821T>A c.1162A>T c.(1162-1164)Aat>Tat p.N388Y COADREAD 7 38816280 38816281 + Splice_Site INS - - T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr7:38816280_38816281insT c.880_881insA c.(880-882)acg>aAcg p.T294fs COADREAD 7 38816307 38816307 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:38816307G>A c.854C>T c.(853-855)tCg>tTg p.S285L COADREAD 7 38835207 38835207 + Missense_Mutation SNP A A G TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr7:38835207A>G c.575T>C c.(574-576)gTg>gCg p.V192A DLBC 7 38785204 38785204 + Missense_Mutation SNP T T C TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr7:38785204T>C c.1936A>G c.(1936-1938)Atc>Gtc p.I646V ESCA 7 38766586 38766586 + Missense_Mutation SNP C C G TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 g.chr7:38766586C>G c.2407G>C c.(2407-2409)Gca>Cca p.A803P ESCA 7 38794506 38794506 + Missense_Mutation SNP C C G TCGA-LN-A4MQ-01A-11D-A28B-09 TCGA-LN-A4MQ-10A-01D-A28E-09 g.chr7:38794506C>G c.1726G>C c.(1726-1728)Gat>Cat p.D576H ESCA 7 38857431 38857431 + Missense_Mutation SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 g.chr7:38857431T>G c.436A>C c.(436-438)Acc>Ccc p.T146P GBM 7 38798055 38798055 + Missense_Mutation SNP C C A TCGA-76-6282-01A-11D-1696-08 TCGA-76-6282-10A-01D-1696-08 g.chr7:38798055C>A c.1449G>T c.(1447-1449)tgG>tgT p.W483C GBM 7 38816326 38816326 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 g.chr7:38816326C>T c.835G>A c.(835-837)Gat>Aat p.D279N GBM 7 38835094 38835094 + Missense_Mutation SNP G G C TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 g.chr7:38835094G>C c.688C>G c.(688-690)Ctg>Gtg p.L230V GBMLGG 7 38796519 38796519 + Silent SNP G G A TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 g.chr7:38796519G>A c.1614C>T c.(1612-1614)gaC>gaT p.D538D GBMLGG 7 38798055 38798055 + Missense_Mutation SNP C C A TCGA-76-6282-01A-11D-1696-08 TCGA-76-6282-10A-01D-1696-08 g.chr7:38798055C>A c.1449G>T c.(1447-1449)tgG>tgT p.W483C GBMLGG 7 38805189 38805189 + Silent SNP T T C TCGA-TM-A84H-01A-11D-A36O-08 TCGA-TM-A84H-10A-01D-A367-08 g.chr7:38805189T>C c.1320A>G c.(1318-1320)ggA>ggG p.G440G GBMLGG 7 38816326 38816326 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 g.chr7:38816326C>T c.835G>A c.(835-837)Gat>Aat p.D279N GBMLGG 7 38835094 38835094 + Missense_Mutation SNP G G C TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 g.chr7:38835094G>C c.688C>G c.(688-690)Ctg>Gtg p.L230V GBMLGG 7 38857475 38857475 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:38857475G>T c.392C>A c.(391-393)gCt>gAt p.A131D GBMLGG 7 38902182 38902182 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:38902182A>G c.209T>C c.(208-210)cTt>cCt p.L70P GBMLGG 7 38902218 38902218 + Frame_Shift_Del DEL A A - TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 g.chr7:38902218delA c.173delT c.(172-174)ttgfs p.L58fs HNSC 7 38765891 38765891 + Silent SNP A A C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 g.chr7:38765891A>C c.2520T>G c.(2518-2520)gcT>gcG p.A840A HNSC 7 38781699 38781699 + Missense_Mutation SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 g.chr7:38781699G>T c.2145C>A c.(2143-2145)aaC>aaA p.N715K HNSC 7 38785177 38785177 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr7:38785177C>G c.1963G>C c.(1963-1965)Gag>Cag p.E655Q HNSC 7 38785180 38785180 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr7:38785180C>G c.1960G>C c.(1960-1962)Gaa>Caa p.E654Q HNSC 7 38796440 38796440 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr7:38796440C>G c.1693G>C c.(1693-1695)Gag>Cag p.E565Q HNSC 7 38796567 38796567 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 g.chr7:38796567C>T c.1566G>A c.(1564-1566)aaG>aaA p.K522K HNSC 7 38805245 38805245 + Missense_Mutation SNP G G T TCGA-CV-A45W-01A-11D-A25D-08 TCGA-CV-A45W-10A-01D-A25E-08 g.chr7:38805245G>T c.1264C>A c.(1264-1266)Ctt>Att p.L422I HNSC 7 38812139 38812139 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 g.chr7:38812139C>G c.1111G>C c.(1111-1113)Gaa>Caa p.E371Q HNSC 7 38812186 38812186 + Missense_Mutation SNP A A G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 g.chr7:38812186A>G c.1064T>C c.(1063-1065)gTa>gCa p.V355A HNSC 7 38816315 38816315 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr7:38816315A>G c.846T>C c.(844-846)gtT>gtC p.V282V HNSC 7 38835131 38835131 + Missense_Mutation SNP C C A TCGA-D6-6825-01A-21D-1912-08 TCGA-D6-6825-10A-01D-1912-08 g.chr7:38835131C>A c.651G>T c.(649-651)atG>atT p.M217I HNSC 7 38869862 38869862 + Missense_Mutation SNP C C G TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 g.chr7:38869862C>G c.313G>C c.(313-315)Gat>Cat p.D105H KIPAN 7 38803128 38803128 + Missense_Mutation SNP G G C TCGA-BP-5190-01A-01D-1429-08 TCGA-BP-5190-11A-01D-1429-08 g.chr7:38803128G>C c.1349C>G c.(1348-1350)cCa>cGa p.P450R KIPAN 7 38816289 38816289 + Missense_Mutation SNP G G A TCGA-A3-3322-01A-01W-0886-08 TCGA-A3-3322-11A-01D-0966-08 g.chr7:38816289G>A c.872C>T c.(871-873)tCa>tTa p.S291L KIPAN 7 38857441 38857441 + Missense_Mutation SNP C C A TCGA-BP-4971-01A-01D-1462-08 TCGA-BP-4971-11A-01D-1462-08 g.chr7:38857441C>A c.426G>T c.(424-426)aaG>aaT p.K142N KIPAN 7 38902201 38902201 + Missense_Mutation SNP A A T TCGA-2Z-A9JP-01A-11D-A42J-10 TCGA-2Z-A9JP-10A-01D-A42M-10 g.chr7:38902201A>T c.190T>A c.(190-192)Tat>Aat p.Y64N KIRC 7 38803128 38803128 + Missense_Mutation SNP G G C TCGA-BP-5190-01A-01D-1429-08 TCGA-BP-5190-11A-01D-1429-08 g.chr7:38803128G>C c.1349C>G c.(1348-1350)cCa>cGa p.P450R KIRC 7 38816289 38816289 + Missense_Mutation SNP G G A TCGA-A3-3322-01A-01W-0886-08 TCGA-A3-3322-11A-01D-0966-08 g.chr7:38816289G>A c.872C>T c.(871-873)tCa>tTa p.S291L KIRC 7 38857441 38857441 + Missense_Mutation SNP C C A TCGA-BP-4971-01A-01D-1462-08 TCGA-BP-4971-11A-01D-1462-08 g.chr7:38857441C>A c.426G>T c.(424-426)aaG>aaT p.K142N KIRP 7 38902201 38902201 + Missense_Mutation SNP A A T TCGA-2Z-A9JP-01A-11D-A42J-10 TCGA-2Z-A9JP-10A-01D-A42M-10 g.chr7:38902201A>T c.190T>A c.(190-192)Tat>Aat p.Y64N LGG 7 38796519 38796519 + Silent SNP G G A TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 g.chr7:38796519G>A c.1614C>T c.(1612-1614)gaC>gaT p.D538D LGG 7 38805189 38805189 + Silent SNP T T C TCGA-TM-A84H-01A-11D-A36O-08 TCGA-TM-A84H-10A-01D-A367-08 g.chr7:38805189T>C c.1320A>G c.(1318-1320)ggA>ggG p.G440G LGG 7 38857475 38857475 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:38857475G>T c.392C>A c.(391-393)gCt>gAt p.A131D LGG 7 38902182 38902182 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:38902182A>G c.209T>C c.(208-210)cTt>cCt p.L70P LGG 7 38902218 38902218 + Frame_Shift_Del DEL A A - TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 g.chr7:38902218delA c.173delT c.(172-174)ttgfs p.L58fs LIHC 7 38765881 38765881 + Missense_Mutation SNP C C T TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr7:38765881C>T c.2530G>A c.(2530-2532)Gga>Aga p.G844R LIHC 7 38781711 38781711 + Silent SNP A A G TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr7:38781711A>G c.2133T>C c.(2131-2133)acT>acC p.T711T LIHC 7 38783021 38783021 + Missense_Mutation SNP T T G TCGA-DD-AADO-01A-11D-A40R-10 TCGA-DD-AADO-10A-01D-A40U-10 g.chr7:38783021T>G c.2103A>C c.(2101-2103)ttA>ttC p.L701F LIHC 7 38798051 38798051 + Nonsense_Mutation SNP C C A TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr7:38798051C>A c.1453G>T c.(1453-1455)Gga>Tga p.G485* LIHC 7 38869928 38869928 + Splice_Site SNP T T C TCGA-DD-A39X-01A-11D-A20W-10 TCGA-DD-A39X-11A-11D-A20W-10 g.chr7:38869928T>C c.247A>G c.(247-249)Agt>Ggt p.S83G LUAD 7 38768292 38768292 + Splice_Site SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr7:38768292C>T c.2359G>A c.(2359-2361)Gag>Aag p.E787K LUAD 7 38768381 38768381 + Missense_Mutation SNP C C G TCGA-73-4668-01A-01D-1265-08 TCGA-73-4668-11A-01D-1265-08 g.chr7:38768381C>G c.2270G>C c.(2269-2271)cGt>cCt p.R757P LUAD 7 38783118 38783118 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 g.chr7:38783118G>A c.2006C>T c.(2005-2007)gCc>gTc p.A669V LUAD 7 38785205 38785205 + Silent SNP C C T TCGA-44-7660-01A-11D-2063-08 TCGA-44-7660-10A-01D-2063-08 g.chr7:38785205C>T c.1935G>A c.(1933-1935)gaG>gaA p.E645E LUAD 7 38785207 38785207 + Missense_Mutation SNP C C T TCGA-44-7661-01A-11D-2063-08 TCGA-44-7661-10A-01D-2063-08 g.chr7:38785207C>T c.1933G>A c.(1933-1935)Gag>Aag p.E645K LUAD 7 38791781 38791781 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 g.chr7:38791781C>T c.1921G>A c.(1921-1923)Gaa>Aaa p.E641K LUAD 7 38791787 38791787 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr7:38791787G>A c.1915C>T c.(1915-1917)Cca>Tca p.P639S LUAD 7 38805189 38805189 + Silent SNP T T C TCGA-44-7660-01A-11D-2063-08 TCGA-44-7660-10A-01D-2063-08 g.chr7:38805189T>C c.1320A>G c.(1318-1320)ggA>ggG p.G440G LUAD 7 38816338 38816338 + Missense_Mutation SNP C C A TCGA-17-Z009-01A-01W-0746-08 TCGA-17-Z009-11A-01W-0746-08 g.chr7:38816338C>A c.823G>T c.(823-825)Gca>Tca p.A275S LUAD 7 38835164 38835164 + Silent SNP C C A TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr7:38835164C>A c.618G>T c.(616-618)gtG>gtT p.V206V LUAD 7 38857421 38857421 + Missense_Mutation SNP T T A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 g.chr7:38857421T>A c.446A>T c.(445-447)aAg>aTg p.K149M LUAD 7 38908748 38908748 + Missense_Mutation SNP T T G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr7:38908748T>G c.166A>C c.(166-168)Aag>Cag p.K56Q LUAD 7 38937702 38937702 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 g.chr7:38937702C>T c.49G>A c.(49-51)Gat>Aat p.D17N LUAD 7 38937723 38937723 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 g.chr7:38937723C>A c.28G>T c.(28-30)Ggg>Tgg p.G10W LUSC 7 38768321 38768321 + Missense_Mutation SNP C C T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 g.chr7:38768321C>T c.2330G>A c.(2329-2331)cGa>cAa p.R777Q LUSC 7 38785213 38785213 + Splice_Site SNP C C A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 g.chr7:38785213C>A c.1927G>T c.(1927-1929)Gct>Tct p.A643S LUSC 7 38807137 38807137 + Splice_Site SNP C C T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 g.chr7:38807137C>T c.1247G>A c.(1246-1248)cGc>cAc p.R416H LUSC 7 38869888 38869888 + Missense_Mutation SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr7:38869888C>A c.287G>T c.(286-288)gGa>gTa p.G96V LUSC 7 38908827 38908827 + Missense_Mutation SNP C C A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 g.chr7:38908827C>A c.87G>T c.(85-87)aaG>aaT p.K29N LUSC 7 38937702 38937702 + Missense_Mutation SNP C C G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 g.chr7:38937702C>G c.49G>C c.(49-51)Gat>Cat p.D17H PRAD 7 38791805 38791805 + Nonsense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:38791805G>A c.1897C>T c.(1897-1899)Cga>Tga p.R633* PRAD 7 38805233 38805233 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:38805233C>T c.1276G>A c.(1276-1278)Gca>Aca p.A426T PRAD 7 38807200 38807200 + Splice_Site SNP T T C TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 g.chr7:38807200T>C c.e15-2 PRAD 7 38829422 38829422 + Missense_Mutation SNP G G A TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr7:38829422G>A c.763C>T c.(763-765)Cca>Tca p.P255S READ 7 38791872 38791872 + Silent SNP C C T TCGA-EI-6508-01A-11D-1733-10 TCGA-EI-6508-10A-01D-1733-10 g.chr7:38791872C>T c.1830G>A c.(1828-1830)caG>caA p.Q610Q SARC 7 38813817 38813817 + Missense_Mutation SNP G G T TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 g.chr7:38813817G>T c.910C>A c.(910-912)Ctg>Atg p.L304M SKCM 7 38766521 38766521 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:38766521G>A c.2472C>T c.(2470-2472)ccC>ccT p.P824P SKCM 7 38768147 38768147 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr7:38768147G>A c.2399C>T c.(2398-2400)cCa>cTa p.P800L SKCM 7 38768159 38768159 + Missense_Mutation SNP G G A TCGA-DA-A1I0-06A-11D-A20D-08 TCGA-DA-A1I0-10B-01D-A20D-08 g.chr7:38768159G>A c.2387C>T c.(2386-2388)tCc>tTc p.S796F SKCM 7 38768163 38768163 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:38768163G>A c.2383C>T c.(2383-2385)Ctt>Ttt p.L795F SKCM 7 38781671 38781671 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr7:38781671G>A c.2173C>T c.(2173-2175)Cta>Tta p.L725L SKCM 7 38783015 38783015 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr7:38783015G>A c.2109C>T c.(2107-2109)tcC>tcT p.S703S SKCM 7 38783140 38783140 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr7:38783140G>A c.1984C>T c.(1984-1986)Cga>Tga p.R662* SKCM 7 38783141 38783141 + Splice_Site SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr7:38783141G>A c.1983C>T c.(1981-1983)agC>agT p.S661S SKCM 7 38785191 38785191 + Missense_Mutation SNP C C T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr7:38785191C>T c.1949G>A c.(1948-1950)aGa>aAa p.R650K SKCM 7 38791813 38791813 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr7:38791813G>A c.1889C>T c.(1888-1890)cCc>cTc p.P630L SKCM 7 38797964 38797964 + Silent SNP G G A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr7:38797964G>A c.1540C>T c.(1540-1542)Ctg>Ttg p.L514L SKCM 7 38810819 38810819 + Missense_Mutation SNP A A T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 g.chr7:38810819A>T c.1164T>A c.(1162-1164)aaT>aaA p.N388K SKCM 7 38812206 38812206 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr7:38812206G>A c.1044C>T c.(1042-1044)atC>atT p.I348I SKCM 7 38813801 38813801 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 g.chr7:38813801G>A c.926C>T c.(925-927)cCa>cTa p.P309L SKCM 7 38829439 38829439 + Missense_Mutation SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr7:38829439C>T c.746G>A c.(745-747)aGt>aAt p.S249N SKCM 7 38857430 38857430 + Missense_Mutation SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr7:38857430G>A c.437C>T c.(436-438)aCc>aTc p.T146I SKCM 7 38857459 38857459 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr7:38857459G>A c.408C>T c.(406-408)ttC>ttT p.F136F SKCM 7 38857459 38857459 + Silent SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr7:38857459G>A c.408C>T c.(406-408)ttC>ttT p.F136F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 7 38860835 38860835 single base substitution C G exon_variant BLCA-US 7 38860835 38860835 single base substitution C G missense_variant E105Q 313G>C BLCA-US 7 38860835 38860835 single base substitution C G missense_variant E118Q 352G>C BLCA-US 7 38860835 38860835 single base substitution C G missense_variant E44Q 130G>C BLCA-US 7 38860835 38860835 single base substitution C G missense_variant E68Q 202G>C BLCA-US 7 38860835 38860835 single base substitution C G missense_variant E93Q 277G>C BOCA-FR 7 38951321 38951321 single base substitution C A intron_variant BOCA-FR 7 38951321 38951321 single base substitution C A upstream_gene_variant BRCA-EU 7 38757980 38757980 single base substitution C T downstream_gene_variant BRCA-EU 7 38758242 38758242 insertion of <=200bp - C downstream_gene_variant BRCA-EU 7 38758259 38758259 single base substitution T G downstream_gene_variant BRCA-EU 7 38758349 38758349 single base substitution T C downstream_gene_variant BRCA-EU 7 38759504 38759504 single base substitution T C downstream_gene_variant BRCA-EU 7 38759999 38759999 single base substitution A G downstream_gene_variant BRCA-EU 7 38760829 38760829 single base substitution G A downstream_gene_variant BRCA-EU 7 38762164 38762164 single base substitution T C downstream_gene_variant BRCA-EU 7 38764626 38764626 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 38764626 38764626 single base substitution C T downstream_gene_variant BRCA-EU 7 38765904 38765904 single base substitution T C 3_prime_UTR_variant BRCA-EU 7 38765904 38765904 single base substitution T C downstream_gene_variant BRCA-EU 7 38765904 38765904 single base substitution T C exon_variant BRCA-EU 7 38765904 38765904 single base substitution T C missense_variant N811S 2432A>G BRCA-EU 7 38765904 38765904 single base substitution T C missense_variant N836S 2507A>G BRCA-EU 7 38766400 38766400 deletion of <=200bp T - intron_variant BRCA-EU 7 38767657 38767657 single base substitution A G intron_variant BRCA-EU 7 38767657 38767657 single base substitution A G upstream_gene_variant BRCA-EU 7 38768388 38768388 single base substitution G T exon_variant BRCA-EU 7 38768388 38768388 single base substitution G T missense_variant L730M 2188C>A BRCA-EU 7 38768388 38768388 single base substitution G T missense_variant L755M 2263C>A BRCA-EU 7 38768388 38768388 single base substitution G T upstream_gene_variant BRCA-EU 7 38769389 38769389 single base substitution G A intron_variant BRCA-EU 7 38769389 38769389 single base substitution G A upstream_gene_variant BRCA-EU 7 38771266 38771266 single base substitution G T intron_variant BRCA-EU 7 38771266 38771266 single base substitution G T upstream_gene_variant BRCA-EU 7 38771943 38771943 single base substitution G C intron_variant BRCA-EU 7 38772910 38772910 single base substitution T G intron_variant BRCA-EU 7 38779633 38779633 single base substitution T C downstream_gene_variant BRCA-EU 7 38779633 38779633 single base substitution T C intron_variant BRCA-EU 7 38780465 38780465 single base substitution T C downstream_gene_variant BRCA-EU 7 38780465 38780465 single base substitution T C intron_variant BRCA-EU 7 38781138 38781138 single base substitution C A intron_variant BRCA-EU 7 38782051 38782051 single base substitution C G intron_variant BRCA-EU 7 38782752 38782752 single base substitution G A intron_variant BRCA-EU 7 38783154 38783154 single base substitution G C intron_variant BRCA-EU 7 38783217 38783217 single base substitution C G intron_variant BRCA-EU 7 38784126 38784126 single base substitution T A intron_variant BRCA-EU 7 38784445 38784445 single base substitution G C intron_variant BRCA-EU 7 38785438 38785438 single base substitution C G exon_variant BRCA-EU 7 38785438 38785438 single base substitution C G intron_variant BRCA-EU 7 38785438 38785438 single base substitution C G upstream_gene_variant BRCA-EU 7 38785462 38785462 single base substitution G T exon_variant BRCA-EU 7 38785462 38785462 single base substitution G T intron_variant BRCA-EU 7 38785462 38785462 single base substitution G T upstream_gene_variant BRCA-EU 7 38786338 38786338 single base substitution C G intron_variant BRCA-EU 7 38786338 38786338 single base substitution C G upstream_gene_variant BRCA-EU 7 38787106 38787106 single base substitution C G intron_variant BRCA-EU 7 38787106 38787106 single base substitution C G upstream_gene_variant BRCA-EU 7 38789897 38789897 single base substitution A G intron_variant BRCA-EU 7 38789897 38789897 single base substitution A G upstream_gene_variant BRCA-EU 7 38790488 38790488 single base substitution T C intron_variant BRCA-EU 7 38790488 38790488 single base substitution T C upstream_gene_variant BRCA-EU 7 38791619 38791619 single base substitution G A intron_variant BRCA-EU 7 38791646 38791646 single base substitution T C intron_variant BRCA-EU 7 38792238 38792238 single base substitution C T intron_variant BRCA-EU 7 38792262 38792262 single base substitution T A intron_variant BRCA-EU 7 38792660 38792660 single base substitution G T intron_variant BRCA-EU 7 38793419 38793419 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 38793419 38793419 deletion of <=200bp A - intron_variant BRCA-EU 7 38794573 38794573 single base substitution C T downstream_gene_variant BRCA-EU 7 38794573 38794573 single base substitution C T intron_variant BRCA-EU 7 38795241 38795241 single base substitution T C downstream_gene_variant BRCA-EU 7 38795241 38795241 single base substitution T C intron_variant BRCA-EU 7 38795712 38795712 single base substitution T A downstream_gene_variant BRCA-EU 7 38795712 38795712 single base substitution T A intron_variant BRCA-EU 7 38796735 38796735 single base substitution A G downstream_gene_variant BRCA-EU 7 38796735 38796735 single base substitution A G intron_variant BRCA-EU 7 38796911 38796911 single base substitution C T downstream_gene_variant BRCA-EU 7 38796911 38796911 single base substitution C T intron_variant BRCA-EU 7 38797042 38797042 insertion of <=200bp - T downstream_gene_variant BRCA-EU 7 38797042 38797042 insertion of <=200bp - T intron_variant BRCA-EU 7 38797333 38797333 single base substitution G A downstream_gene_variant BRCA-EU 7 38797333 38797333 single base substitution G A intron_variant BRCA-EU 7 38798048 38798048 single base substitution C T exon_variant BRCA-EU 7 38798048 38798048 single base substitution C T missense_variant D461N 1381G>A BRCA-EU 7 38798048 38798048 single base substitution C T missense_variant D486N 1456G>A BRCA-EU 7 38798090 38798090 single base substitution A G intron_variant BRCA-EU 7 38798477 38798477 single base substitution C T intron_variant BRCA-EU 7 38798559 38798559 single base substitution C T intron_variant BRCA-EU 7 38798561 38798561 single base substitution T A intron_variant BRCA-EU 7 38798911 38798911 single base substitution G A intron_variant BRCA-EU 7 38801307 38801307 single base substitution C T intron_variant BRCA-EU 7 38802972 38802972 single base substitution C T intron_variant BRCA-EU 7 38804538 38804538 single base substitution A G intron_variant BRCA-EU 7 38804746 38804746 single base substitution A G intron_variant BRCA-EU 7 38805718 38805718 single base substitution C T intron_variant BRCA-EU 7 38805718 38805718 single base substitution C T upstream_gene_variant BRCA-EU 7 38805721 38805721 single base substitution G C intron_variant BRCA-EU 7 38805721 38805721 single base substitution G C upstream_gene_variant BRCA-EU 7 38806062 38806062 single base substitution A G intron_variant BRCA-EU 7 38806062 38806062 single base substitution A G upstream_gene_variant BRCA-EU 7 38807031 38807031 single base substitution G T intron_variant BRCA-EU 7 38807031 38807031 single base substitution G T upstream_gene_variant BRCA-EU 7 38809926 38809926 single base substitution C T downstream_gene_variant BRCA-EU 7 38809926 38809926 single base substitution C T intron_variant BRCA-EU 7 38809926 38809926 single base substitution C T upstream_gene_variant BRCA-EU 7 38809933 38809933 single base substitution C G downstream_gene_variant BRCA-EU 7 38809933 38809933 single base substitution C G intron_variant BRCA-EU 7 38809933 38809933 single base substitution C G upstream_gene_variant BRCA-EU 7 38810721 38810721 single base substitution T A downstream_gene_variant BRCA-EU 7 38810721 38810721 single base substitution T A intron_variant BRCA-EU 7 38811005 38811005 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 38811005 38811005 deletion of <=200bp T - intron_variant BRCA-EU 7 38811202 38811202 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 38811202 38811202 deletion of <=200bp A - intron_variant BRCA-EU 7 38811606 38811606 single base substitution C T downstream_gene_variant BRCA-EU 7 38811606 38811606 single base substitution C T intron_variant BRCA-EU 7 38811786 38811786 single base substitution C T downstream_gene_variant BRCA-EU 7 38811786 38811786 single base substitution C T intron_variant BRCA-EU 7 38813252 38813252 single base substitution C A downstream_gene_variant BRCA-EU 7 38813252 38813252 single base substitution C A intron_variant BRCA-EU 7 38815370 38815370 single base substitution C A intron_variant BRCA-EU 7 38815370 38815370 single base substitution C A upstream_gene_variant BRCA-EU 7 38815521 38815521 single base substitution C T intron_variant BRCA-EU 7 38815521 38815521 single base substitution C T upstream_gene_variant BRCA-EU 7 38815906 38815906 single base substitution C T intron_variant BRCA-EU 7 38815906 38815906 single base substitution C T upstream_gene_variant BRCA-EU 7 38818003 38818003 single base substitution C T intron_variant BRCA-EU 7 38818003 38818003 single base substitution C T upstream_gene_variant BRCA-EU 7 38818243 38818243 single base substitution C T intron_variant BRCA-EU 7 38818243 38818243 single base substitution C T upstream_gene_variant BRCA-EU 7 38821304 38821304 single base substitution C A intron_variant BRCA-EU 7 38821597 38821597 single base substitution G C intron_variant BRCA-EU 7 38822930 38822930 single base substitution C T intron_variant BRCA-EU 7 38824246 38824246 single base substitution G T intron_variant BRCA-EU 7 38825491 38825491 single base substitution C G intron_variant BRCA-EU 7 38825705 38825705 single base substitution C T intron_variant BRCA-EU 7 38827727 38827727 single base substitution C G intron_variant BRCA-EU 7 38828405 38828405 single base substitution C G intron_variant BRCA-EU 7 38828797 38828797 single base substitution G A intron_variant BRCA-EU 7 38831246 38831246 single base substitution T G downstream_gene_variant BRCA-EU 7 38831246 38831246 single base substitution T G intron_variant BRCA-EU 7 38831310 38831310 single base substitution T A downstream_gene_variant BRCA-EU 7 38831310 38831310 single base substitution T A intron_variant BRCA-EU 7 38831893 38831893 single base substitution G A downstream_gene_variant BRCA-EU 7 38831893 38831893 single base substitution G A intron_variant BRCA-EU 7 38832440 38832440 single base substitution C A downstream_gene_variant BRCA-EU 7 38832440 38832440 single base substitution C A intron_variant BRCA-EU 7 38833256 38833256 single base substitution G A downstream_gene_variant BRCA-EU 7 38833256 38833256 single base substitution G A intron_variant BRCA-EU 7 38833416 38833416 single base substitution C T downstream_gene_variant BRCA-EU 7 38833416 38833416 single base substitution C T intron_variant BRCA-EU 7 38833474 38833474 single base substitution T C downstream_gene_variant BRCA-EU 7 38833474 38833474 single base substitution T C intron_variant BRCA-EU 7 38833530 38833530 single base substitution A G downstream_gene_variant BRCA-EU 7 38833530 38833530 single base substitution A G intron_variant BRCA-EU 7 38834045 38834045 single base substitution G C downstream_gene_variant BRCA-EU 7 38834045 38834045 single base substitution G C intron_variant BRCA-EU 7 38834779 38834779 single base substitution A C downstream_gene_variant BRCA-EU 7 38834779 38834779 single base substitution A C intron_variant BRCA-EU 7 38835448 38835448 single base substitution C G downstream_gene_variant BRCA-EU 7 38835448 38835448 single base substitution C G intron_variant BRCA-EU 7 38836218 38836218 single base substitution C T downstream_gene_variant BRCA-EU 7 38836218 38836218 single base substitution C T intron_variant BRCA-EU 7 38839329 38839329 single base substitution G A intron_variant BRCA-EU 7 38839329 38839329 single base substitution G A upstream_gene_variant BRCA-EU 7 38839662 38839662 single base substitution C G intron_variant BRCA-EU 7 38839662 38839662 single base substitution C G upstream_gene_variant BRCA-EU 7 38839970 38839970 single base substitution C T intron_variant BRCA-EU 7 38839970 38839970 single base substitution C T upstream_gene_variant BRCA-EU 7 38841324 38841324 single base substitution T C intron_variant BRCA-EU 7 38841324 38841324 single base substitution T C upstream_gene_variant BRCA-EU 7 38841543 38841543 single base substitution A G intron_variant BRCA-EU 7 38841543 38841543 single base substitution A G upstream_gene_variant BRCA-EU 7 38842989 38842989 single base substitution G C intron_variant BRCA-EU 7 38843087 38843087 single base substitution A G intron_variant BRCA-EU 7 38844248 38844248 single base substitution C G intron_variant BRCA-EU 7 38844288 38844288 single base substitution C G intron_variant BRCA-EU 7 38847523 38847523 single base substitution G A intron_variant BRCA-EU 7 38847662 38847662 deletion of <=200bp T - intron_variant BRCA-EU 7 38847736 38847736 single base substitution C T intron_variant BRCA-EU 7 38848051 38848051 single base substitution G T intron_variant BRCA-EU 7 38849336 38849336 single base substitution C G intron_variant BRCA-EU 7 38849402 38849402 single base substitution C T intron_variant BRCA-EU 7 38849714 38849714 single base substitution C G intron_variant BRCA-EU 7 38852123 38852123 single base substitution C A intron_variant BRCA-EU 7 38854628 38854628 single base substitution C G downstream_gene_variant BRCA-EU 7 38854628 38854628 single base substitution C G intron_variant BRCA-EU 7 38855896 38855896 single base substitution G A downstream_gene_variant BRCA-EU 7 38855896 38855896 single base substitution G A intron_variant BRCA-EU 7 38855987 38855987 single base substitution G A downstream_gene_variant BRCA-EU 7 38855987 38855987 single base substitution G A intron_variant BRCA-EU 7 38858006 38858006 single base substitution C T downstream_gene_variant BRCA-EU 7 38858006 38858006 single base substitution C T intron_variant BRCA-EU 7 38859108 38859108 single base substitution C T downstream_gene_variant BRCA-EU 7 38859108 38859108 single base substitution C T intron_variant BRCA-EU 7 38859648 38859648 single base substitution C A downstream_gene_variant BRCA-EU 7 38859648 38859648 single base substitution C A intron_variant BRCA-EU 7 38860092 38860092 single base substitution G T downstream_gene_variant BRCA-EU 7 38860092 38860092 single base substitution G T intron_variant BRCA-EU 7 38860958 38860958 single base substitution G A intron_variant BRCA-EU 7 38861559 38861559 deletion of <=200bp T - intron_variant BRCA-EU 7 38862435 38862435 single base substitution C A intron_variant BRCA-EU 7 38864885 38864885 single base substitution A C intron_variant BRCA-EU 7 38866582 38866582 single base substitution C G intron_variant BRCA-EU 7 38869183 38869183 single base substitution A G intron_variant BRCA-EU 7 38870018 38870018 single base substitution C G intron_variant BRCA-EU 7 38871597 38871597 deletion of <=200bp T - intron_variant BRCA-EU 7 38871597 38871597 deletion of <=200bp T - upstream_gene_variant BRCA-EU 7 38872745 38872745 single base substitution G A intron_variant BRCA-EU 7 38872745 38872745 single base substitution G A upstream_gene_variant BRCA-EU 7 38873084 38873084 single base substitution T C intron_variant BRCA-EU 7 38873084 38873084 single base substitution T C upstream_gene_variant BRCA-EU 7 38874455 38874455 deletion of <=200bp A - intron_variant BRCA-EU 7 38874455 38874455 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 38874455 38874455 insertion of <=200bp - A intron_variant BRCA-EU 7 38874455 38874455 insertion of <=200bp - A upstream_gene_variant BRCA-EU 7 38874565 38874565 single base substitution A G intron_variant BRCA-EU 7 38874565 38874565 single base substitution A G upstream_gene_variant BRCA-EU 7 38875022 38875022 single base substitution T C intron_variant BRCA-EU 7 38875022 38875022 single base substitution T C upstream_gene_variant BRCA-EU 7 38876189 38876189 single base substitution A G intron_variant BRCA-EU 7 38876514 38876514 single base substitution A T intron_variant BRCA-EU 7 38878799 38878799 single base substitution A G intron_variant BRCA-EU 7 38879758 38879758 single base substitution C T intron_variant BRCA-EU 7 38881439 38881439 single base substitution G A intron_variant BRCA-EU 7 38883292 38883292 single base substitution A C intron_variant BRCA-EU 7 38883397 38883397 single base substitution C T intron_variant BRCA-EU 7 38883955 38883955 single base substitution C T intron_variant BRCA-EU 7 38884193 38884193 insertion of <=200bp - T intron_variant BRCA-EU 7 38884998 38884998 single base substitution G A intron_variant BRCA-EU 7 38885461 38885461 single base substitution C T intron_variant BRCA-EU 7 38885746 38885746 deletion of <=200bp A - intron_variant BRCA-EU 7 38885747 38885747 single base substitution A T intron_variant BRCA-EU 7 38886199 38886199 single base substitution C G intron_variant BRCA-EU 7 38886488 38886488 single base substitution G A intron_variant BRCA-EU 7 38890461 38890461 single base substitution T C intron_variant BRCA-EU 7 38890796 38890796 single base substitution G C intron_variant BRCA-EU 7 38891887 38891887 single base substitution C T intron_variant BRCA-EU 7 38891911 38891911 single base substitution C T intron_variant BRCA-EU 7 38893132 38893132 single base substitution T G intron_variant BRCA-EU 7 38893853 38893853 single base substitution G C intron_variant BRCA-EU 7 38894270 38894270 single base substitution T G intron_variant BRCA-EU 7 38895762 38895762 deletion of <=200bp T - intron_variant BRCA-EU 7 38898130 38898130 single base substitution T A intron_variant BRCA-EU 7 38898361 38898361 single base substitution A G intron_variant BRCA-EU 7 38898444 38898444 single base substitution C A intron_variant BRCA-EU 7 38898483 38898483 single base substitution A G intron_variant BRCA-EU 7 38899130 38899130 single base substitution A C intron_variant BRCA-EU 7 38901665 38901665 single base substitution A C intron_variant BRCA-EU 7 38901943 38901943 single base substitution T G intron_variant BRCA-EU 7 38902409 38902409 single base substitution T C intron_variant BRCA-EU 7 38902647 38902647 single base substitution C A intron_variant BRCA-EU 7 38902866 38902866 single base substitution G A intron_variant BRCA-EU 7 38903362 38903362 single base substitution G A intron_variant BRCA-EU 7 38903831 38903831 single base substitution C T intron_variant BRCA-EU 7 38904097 38904097 single base substitution C G intron_variant BRCA-EU 7 38904355 38904355 single base substitution T A intron_variant BRCA-EU 7 38905037 38905037 single base substitution A C intron_variant BRCA-EU 7 38905593 38905593 single base substitution G C intron_variant BRCA-EU 7 38906532 38906532 single base substitution G C intron_variant BRCA-EU 7 38906700 38906700 single base substitution C T intron_variant BRCA-EU 7 38907648 38907648 single base substitution G A intron_variant BRCA-EU 7 38908279 38908279 single base substitution C T intron_variant BRCA-EU 7 38909086 38909086 single base substitution G C intron_variant BRCA-EU 7 38909602 38909602 single base substitution G T intron_variant BRCA-EU 7 38910001 38910001 single base substitution C T intron_variant BRCA-EU 7 38910544 38910544 deletion of <=200bp A - intron_variant BRCA-EU 7 38913782 38913782 single base substitution T C intron_variant BRCA-EU 7 38914624 38914624 single base substitution G T intron_variant BRCA-EU 7 38916133 38916133 deletion of <=200bp A - intron_variant BRCA-EU 7 38918107 38918107 single base substitution C T intron_variant BRCA-EU 7 38919018 38919018 single base substitution G C intron_variant BRCA-EU 7 38919344 38919344 single base substitution G A intron_variant BRCA-EU 7 38919715 38919715 single base substitution T A intron_variant BRCA-EU 7 38919967 38919967 single base substitution T A intron_variant BRCA-EU 7 38920596 38920596 single base substitution C T intron_variant BRCA-EU 7 38921873 38921873 single base substitution G C intron_variant BRCA-EU 7 38922603 38922603 single base substitution G A intron_variant BRCA-EU 7 38923172 38923172 insertion of <=200bp - T intron_variant BRCA-EU 7 38923380 38923380 single base substitution G A intron_variant BRCA-EU 7 38924925 38924925 single base substitution C T intron_variant BRCA-EU 7 38927456 38927456 single base substitution G A intron_variant BRCA-EU 7 38928214 38928214 single base substitution C T intron_variant BRCA-EU 7 38928834 38928834 single base substitution G A intron_variant BRCA-EU 7 38928881 38928881 single base substitution A C intron_variant BRCA-EU 7 38929866 38929866 deletion of <=200bp A - intron_variant BRCA-EU 7 38930491 38930491 single base substitution G A intron_variant BRCA-EU 7 38930857 38930857 deletion of <=200bp A - intron_variant BRCA-EU 7 38931245 38931245 single base substitution C A intron_variant BRCA-EU 7 38932595 38932595 single base substitution G C intron_variant BRCA-EU 7 38933493 38933493 deletion of <=200bp T - intron_variant BRCA-EU 7 38933893 38933893 single base substitution G C intron_variant BRCA-EU 7 38933900 38933900 single base substitution C G intron_variant BRCA-EU 7 38934072 38934072 single base substitution G A intron_variant BRCA-EU 7 38934987 38934987 single base substitution A C intron_variant BRCA-EU 7 38935855 38935855 single base substitution C G intron_variant BRCA-EU 7 38936714 38936714 single base substitution A C intron_variant BRCA-EU 7 38937442 38937442 single base substitution C A intron_variant BRCA-EU 7 38937937 38937937 single base substitution C T intron_variant BRCA-EU 7 38938399 38938399 single base substitution G C intron_variant BRCA-EU 7 38940632 38940632 insertion of <=200bp - T intron_variant BRCA-EU 7 38944149 38944149 single base substitution C T intron_variant BRCA-EU 7 38944536 38944536 single base substitution T C intron_variant BRCA-EU 7 38945379 38945379 single base substitution T G intron_variant BRCA-EU 7 38946652 38946652 single base substitution G C intron_variant BRCA-EU 7 38946656 38946656 single base substitution G T intron_variant BRCA-EU 7 38947564 38947564 single base substitution T C intron_variant BRCA-EU 7 38947697 38947697 single base substitution A G intron_variant BRCA-EU 7 38948333 38948333 single base substitution T C intron_variant BRCA-EU 7 38950169 38950169 single base substitution G A intron_variant BRCA-EU 7 38950169 38950169 single base substitution G A upstream_gene_variant BRCA-EU 7 38951548 38951548 single base substitution G A intron_variant BRCA-EU 7 38951548 38951548 single base substitution G A upstream_gene_variant BRCA-EU 7 38951974 38951974 single base substitution C T intron_variant BRCA-EU 7 38951974 38951974 single base substitution C T upstream_gene_variant BRCA-EU 7 38952495 38952495 single base substitution A G intron_variant BRCA-EU 7 38952495 38952495 single base substitution A G upstream_gene_variant BRCA-EU 7 38952496 38952496 single base substitution T C intron_variant BRCA-EU 7 38952496 38952496 single base substitution T C upstream_gene_variant BRCA-EU 7 38952568 38952568 single base substitution A G intron_variant BRCA-EU 7 38952568 38952568 single base substitution A G upstream_gene_variant BRCA-EU 7 38953524 38953524 single base substitution G C intron_variant BRCA-EU 7 38953524 38953524 single base substitution G C upstream_gene_variant BRCA-EU 7 38953561 38953561 single base substitution G C intron_variant BRCA-EU 7 38953561 38953561 single base substitution G C upstream_gene_variant BRCA-EU 7 38954523 38954523 single base substitution G T intron_variant BRCA-EU 7 38954917 38954917 single base substitution C T intron_variant BRCA-EU 7 38954949 38954949 single base substitution G C intron_variant BRCA-EU 7 38955929 38955929 single base substitution G C intron_variant BRCA-EU 7 38956008 38956008 deletion of <=200bp T - intron_variant BRCA-EU 7 38956377 38956377 single base substitution G T intron_variant BRCA-EU 7 38956652 38956652 deletion of <=200bp G - intron_variant BRCA-EU 7 38957119 38957119 single base substitution A G intron_variant BRCA-EU 7 38958026 38958026 single base substitution A T intron_variant BRCA-EU 7 38959910 38959910 single base substitution G A intron_variant BRCA-EU 7 38960468 38960489 deletion of <=200bp ACTCTATAAGGTATCCCAGGAA - intron_variant BRCA-EU 7 38960616 38960616 single base substitution G T intron_variant BRCA-EU 7 38960736 38960736 single base substitution C T intron_variant BRCA-EU 7 38961992 38961992 single base substitution C G intron_variant BRCA-EU 7 38962688 38962688 single base substitution T G intron_variant BRCA-EU 7 38963121 38963121 single base substitution G T intron_variant BRCA-EU 7 38963354 38963354 single base substitution C T intron_variant BRCA-EU 7 38964001 38964001 insertion of <=200bp - A intron_variant BRCA-EU 7 38964933 38964933 single base substitution G C intron_variant BRCA-EU 7 38965239 38965239 insertion of <=200bp - A intron_variant BRCA-EU 7 38968225 38968225 single base substitution T C intron_variant BRCA-EU 7 38968312 38968312 single base substitution A T intron_variant BRCA-EU 7 38969137 38969137 single base substitution C T 5_prime_UTR_variant BRCA-EU 7 38969137 38969137 single base substitution C T intron_variant BRCA-EU 7 38969204 38969204 insertion of <=200bp - G intron_variant BRCA-EU 7 38969204 38969204 insertion of <=200bp - G upstream_gene_variant BRCA-EU 7 38969206 38969206 single base substitution T G intron_variant BRCA-EU 7 38969206 38969206 single base substitution T G upstream_gene_variant BRCA-EU 7 38969329 38969329 single base substitution C G intron_variant BRCA-EU 7 38969329 38969329 single base substitution C G upstream_gene_variant BRCA-EU 7 38969377 38969377 single base substitution C T intron_variant BRCA-EU 7 38969377 38969377 single base substitution C T upstream_gene_variant BRCA-EU 7 38969407 38969407 single base substitution C T intron_variant BRCA-EU 7 38969407 38969407 single base substitution C T upstream_gene_variant BRCA-EU 7 38970133 38970133 single base substitution C T intron_variant BRCA-EU 7 38970133 38970133 single base substitution C T upstream_gene_variant BRCA-EU 7 38970199 38970199 single base substitution A T intron_variant BRCA-EU 7 38970199 38970199 single base substitution A T upstream_gene_variant BRCA-EU 7 38970532 38970532 single base substitution C T intron_variant BRCA-EU 7 38970532 38970532 single base substitution C T upstream_gene_variant BRCA-EU 7 38970739 38970739 single base substitution A G intron_variant BRCA-EU 7 38970739 38970739 single base substitution A G upstream_gene_variant BRCA-EU 7 38971386 38971386 single base substitution T C intron_variant BRCA-EU 7 38971386 38971386 single base substitution T C upstream_gene_variant BRCA-EU 7 38972611 38972611 single base substitution A G upstream_gene_variant BRCA-EU 7 38972668 38972668 single base substitution T C upstream_gene_variant BRCA-EU 7 38972730 38972730 single base substitution C T upstream_gene_variant BRCA-EU 7 38974112 38974112 single base substitution G A upstream_gene_variant BRCA-FR 7 38764626 38764626 single base substitution C T 3_prime_UTR_variant BRCA-FR 7 38764626 38764626 single base substitution C T downstream_gene_variant BRCA-FR 7 38771266 38771266 single base substitution G T intron_variant BRCA-FR 7 38771266 38771266 single base substitution G T upstream_gene_variant BRCA-FR 7 38784445 38784445 single base substitution G C intron_variant BRCA-FR 7 38785438 38785438 single base substitution C G exon_variant BRCA-FR 7 38785438 38785438 single base substitution C G intron_variant BRCA-FR 7 38785438 38785438 single base substitution C G upstream_gene_variant BRCA-FR 7 38788069 38788069 single base substitution C A intron_variant BRCA-FR 7 38788069 38788069 single base substitution C A upstream_gene_variant BRCA-FR 7 38797393 38797393 single base substitution G A downstream_gene_variant BRCA-FR 7 38797393 38797393 single base substitution G A intron_variant BRCA-FR 7 38799700 38799700 single base substitution C T intron_variant BRCA-FR 7 38811079 38811079 single base substitution C G downstream_gene_variant BRCA-FR 7 38811079 38811079 single base substitution C G intron_variant BRCA-FR 7 38811107 38811107 single base substitution C G downstream_gene_variant BRCA-FR 7 38811107 38811107 single base substitution C G intron_variant BRCA-FR 7 38822567 38822567 single base substitution A G intron_variant BRCA-FR 7 38825491 38825491 single base substitution C G intron_variant BRCA-FR 7 38825705 38825705 single base substitution C T intron_variant BRCA-FR 7 38832440 38832440 single base substitution C A downstream_gene_variant BRCA-FR 7 38832440 38832440 single base substitution C A intron_variant BRCA-FR 7 38833256 38833256 single base substitution G A downstream_gene_variant BRCA-FR 7 38833256 38833256 single base substitution G A intron_variant BRCA-FR 7 38833474 38833474 single base substitution T C downstream_gene_variant BRCA-FR 7 38833474 38833474 single base substitution T C intron_variant BRCA-FR 7 38839970 38839970 single base substitution C T intron_variant BRCA-FR 7 38839970 38839970 single base substitution C T upstream_gene_variant BRCA-FR 7 38840693 38840693 single base substitution C T intron_variant BRCA-FR 7 38840693 38840693 single base substitution C T upstream_gene_variant BRCA-FR 7 38842989 38842989 single base substitution G C intron_variant BRCA-FR 7 38849402 38849402 single base substitution C T intron_variant BRCA-FR 7 38849714 38849714 single base substitution C G intron_variant BRCA-FR 7 38850114 38850114 single base substitution C T intron_variant BRCA-FR 7 38859108 38859108 single base substitution C T downstream_gene_variant BRCA-FR 7 38859108 38859108 single base substitution C T intron_variant BRCA-FR 7 38859382 38859382 single base substitution G C downstream_gene_variant BRCA-FR 7 38859382 38859382 single base substitution G C intron_variant BRCA-FR 7 38867381 38867381 single base substitution G A intron_variant BRCA-FR 7 38877313 38877313 single base substitution C G intron_variant BRCA-FR 7 38879758 38879758 single base substitution C T intron_variant BRCA-FR 7 38884998 38884998 single base substitution G A intron_variant BRCA-FR 7 38891911 38891911 single base substitution C T intron_variant BRCA-FR 7 38898444 38898444 single base substitution C A intron_variant BRCA-FR 7 38904097 38904097 single base substitution C G intron_variant BRCA-FR 7 38909086 38909086 single base substitution G C intron_variant BRCA-FR 7 38909602 38909602 single base substitution G T intron_variant BRCA-FR 7 38911176 38911176 single base substitution C T intron_variant BRCA-FR 7 38911894 38911894 single base substitution G C intron_variant BRCA-FR 7 38928881 38928881 single base substitution A C intron_variant BRCA-FR 7 38934494 38934494 single base substitution G C intron_variant BRCA-FR 7 38935855 38935855 single base substitution C G intron_variant BRCA-FR 7 38936185 38936185 single base substitution A G intron_variant BRCA-FR 7 38949000 38949000 single base substitution G T intron_variant BRCA-FR 7 38949000 38949000 single base substitution G T upstream_gene_variant BRCA-FR 7 38963354 38963354 single base substitution C T intron_variant BRCA-FR 7 38964542 38964542 single base substitution C T intron_variant BRCA-FR 7 38969137 38969137 single base substitution C T 5_prime_UTR_variant BRCA-FR 7 38969137 38969137 single base substitution C T intron_variant BRCA-FR 7 38971562 38971562 single base substitution G C intron_variant BRCA-FR 7 38971562 38971562 single base substitution G C upstream_gene_variant BRCA-UK 7 38781138 38781138 single base substitution C A intron_variant BRCA-UK 7 38781623 38781623 single base substitution C A exon_variant BRCA-UK 7 38781623 38781623 single base substitution C A missense_variant D716Y 2146G>T BRCA-UK 7 38781623 38781623 single base substitution C A missense_variant D741Y 2221G>T BRCA-UK 7 38781623 38781623 single base substitution C A missense_variant D82Y 244G>T BRCA-UK 7 38784126 38784126 single base substitution T A intron_variant BRCA-UK 7 38796735 38796735 single base substitution A G downstream_gene_variant BRCA-UK 7 38796735 38796735 single base substitution A G intron_variant BRCA-UK 7 38821304 38821304 single base substitution C A intron_variant BRCA-UK 7 38835448 38835448 single base substitution C G downstream_gene_variant BRCA-UK 7 38835448 38835448 single base substitution C G intron_variant BRCA-UK 7 38855987 38855987 single base substitution G A downstream_gene_variant BRCA-UK 7 38855987 38855987 single base substitution G A intron_variant BRCA-UK 7 38860613 38860613 single base substitution G A downstream_gene_variant BRCA-UK 7 38860613 38860613 single base substitution G A intron_variant BRCA-UK 7 38898483 38898483 single base substitution A G intron_variant BRCA-UK 7 38931245 38931245 single base substitution C A intron_variant BRCA-UK 7 38937774 38937774 single base substitution G C intron_variant BRCA-UK 7 38966817 38966817 single base substitution C T intron_variant BRCA-US 7 38768370 38768370 single base substitution T C exon_variant BRCA-US 7 38768370 38768370 single base substitution T C missense_variant K736E 2206A>G BRCA-US 7 38768370 38768370 single base substitution T C missense_variant K761E 2281A>G BRCA-US 7 38768370 38768370 single base substitution T C upstream_gene_variant BRCA-US 7 38796567 38796567 single base substitution C G downstream_gene_variant BRCA-US 7 38796567 38796567 single base substitution C G missense_variant K497N 1491G>C BRCA-US 7 38796567 38796567 single base substitution C G missense_variant K522N 1566G>C BRCA-US 7 38798012 38798012 single base substitution G T exon_variant BRCA-US 7 38798012 38798012 single base substitution G T synonymous_variant R473R 1417C>A BRCA-US 7 38798012 38798012 single base substitution G T synonymous_variant R498R 1492C>A BRCA-US 7 38805245 38805245 single base substitution G T exon_variant BRCA-US 7 38805245 38805245 single base substitution G T missense_variant L397I 1189C>A BRCA-US 7 38805245 38805245 single base substitution G T missense_variant L422I 1264C>A BRCA-US 7 38807156 38807156 single base substitution C T missense_variant D385N 1153G>A BRCA-US 7 38807156 38807156 single base substitution C T missense_variant D410N 1228G>A BRCA-US 7 38807156 38807156 single base substitution C T upstream_gene_variant BRCA-US 7 38908751 38908751 single base substitution C A exon_variant BRCA-US 7 38908751 38908751 single base substitution C A missense_variant D42Y 124G>T BRCA-US 7 38908751 38908751 single base substitution C A missense_variant D55Y 163G>T BRCA-US 7 38908751 38908751 single base substitution C A missense_variant D5Y 13G>T BRCA-US 7 38908841 38908841 single base substitution C T 5_prime_UTR_variant BRCA-US 7 38908841 38908841 single base substitution C T exon_variant BRCA-US 7 38908841 38908841 single base substitution C T missense_variant E12K 34G>A BRCA-US 7 38908841 38908841 single base substitution C T missense_variant E25K 73G>A BTCA-JP 7 38765845 38765845 single base substitution G A 3_prime_UTR_variant BTCA-JP 7 38765845 38765845 single base substitution G A downstream_gene_variant BTCA-JP 7 38765845 38765845 single base substitution G A exon_variant BTCA-JP 7 38766333 38766333 single base substitution T C intron_variant BTCA-JP 7 38768422 38768422 single base substitution C A intron_variant BTCA-JP 7 38768422 38768422 single base substitution C A upstream_gene_variant BTCA-JP 7 38783071 38783071 single base substitution C T exon_variant BTCA-JP 7 38783071 38783071 single base substitution C T missense_variant E26K 76G>A BTCA-JP 7 38783071 38783071 single base substitution C T missense_variant E660K 1978G>A BTCA-JP 7 38783071 38783071 single base substitution C T missense_variant E685K 2053G>A BTCA-JP 7 38805303 38805303 deletion of <=200bp A - exon_variant BTCA-JP 7 38805303 38805303 deletion of <=200bp A - intron_variant BTCA-JP 7 38807015 38807015 single base substitution T C intron_variant BTCA-JP 7 38807015 38807015 single base substitution T C upstream_gene_variant BTCA-JP 7 38813920 38813920 single base substitution T A intron_variant BTCA-JP 7 38816245 38816245 single base substitution C T intron_variant BTCA-JP 7 38816245 38816245 single base substitution C T upstream_gene_variant BTCA-JP 7 38816307 38816307 single base substitution G C exon_variant BTCA-JP 7 38816307 38816307 single base substitution G C missense_variant S260W 779C>G BTCA-JP 7 38816307 38816307 single base substitution G C missense_variant S285W 854C>G BTCA-JP 7 38816307 38816307 single base substitution G C upstream_gene_variant BTCA-JP 7 38829181 38829181 single base substitution A C intron_variant BTCA-JP 7 38857470 38857470 single base substitution G A downstream_gene_variant BTCA-JP 7 38857470 38857470 single base substitution G A exon_variant BTCA-JP 7 38857470 38857470 single base substitution G A missense_variant H108Y 322C>T BTCA-JP 7 38857470 38857470 single base substitution G A missense_variant H120Y 358C>T BTCA-JP 7 38857470 38857470 single base substitution G A missense_variant H133Y 397C>T BTCA-JP 7 38857470 38857470 single base substitution G A missense_variant H59Y 175C>T BTCA-JP 7 38857470 38857470 single base substitution G A missense_variant H83Y 247C>T BTCA-JP 7 38870767 38870767 single base substitution A G intron_variant BTCA-JP 7 38937831 38937831 deletion of <=200bp T - intron_variant CESC-US 7 38805239 38805239 single base substitution T C exon_variant CESC-US 7 38805239 38805239 single base substitution T C missense_variant K399E 1195A>G CESC-US 7 38805239 38805239 single base substitution T C missense_variant K424E 1270A>G CESC-US 7 38860835 38860835 single base substitution C G exon_variant CESC-US 7 38860835 38860835 single base substitution C G missense_variant E105Q 313G>C CESC-US 7 38860835 38860835 single base substitution C G missense_variant E118Q 352G>C CESC-US 7 38860835 38860835 single base substitution C G missense_variant E44Q 130G>C CESC-US 7 38860835 38860835 single base substitution C G missense_variant E68Q 202G>C CESC-US 7 38860835 38860835 single base substitution C G missense_variant E93Q 277G>C CLLE-ES 7 38764031 38764031 single base substitution A C 3_prime_UTR_variant CLLE-ES 7 38764031 38764031 single base substitution A C downstream_gene_variant CLLE-ES 7 38790163 38790163 single base substitution T C intron_variant CLLE-ES 7 38790163 38790163 single base substitution T C upstream_gene_variant CLLE-ES 7 38826694 38826694 single base substitution C A intron_variant CLLE-ES 7 38885986 38885986 single base substitution A G intron_variant CLLE-ES 7 38909141 38909141 single base substitution A T intron_variant CLLE-ES 7 38957664 38957664 single base substitution C T intron_variant CLLE-ES 7 38969710 38969710 single base substitution T C intron_variant CLLE-ES 7 38969710 38969710 single base substitution T C upstream_gene_variant CLLE-ES 7 38971188 38971188 single base substitution A G intron_variant CLLE-ES 7 38971188 38971188 single base substitution A G upstream_gene_variant CLLE-ES 7 38973879 38973879 single base substitution C A upstream_gene_variant COAD-US 7 38783010 38783010 single base substitution T C exon_variant COAD-US 7 38783010 38783010 single base substitution T C missense_variant D46G 137A>G COAD-US 7 38783010 38783010 single base substitution T C missense_variant D680G 2039A>G COAD-US 7 38783010 38783010 single base substitution T C missense_variant D705G 2114A>G COAD-US 7 38796518 38796518 single base substitution C T downstream_gene_variant COAD-US 7 38796518 38796518 single base substitution C T missense_variant V514I 1540G>A COAD-US 7 38796518 38796518 single base substitution C T missense_variant V539I 1615G>A COAD-US 7 38796519 38796519 single base substitution G A downstream_gene_variant COAD-US 7 38796519 38796519 single base substitution G A synonymous_variant D513D 1539C>T COAD-US 7 38796519 38796519 single base substitution G A synonymous_variant D538D 1614C>T COAD-US 7 38803102 38803102 single base substitution G A exon_variant COAD-US 7 38803102 38803102 single base substitution G A missense_variant L434F 1300C>T COAD-US 7 38803102 38803102 single base substitution G A missense_variant L459F 1375C>T COAD-US 7 38810819 38810819 insertion of <=200bp - T downstream_gene_variant COAD-US 7 38810819 38810819 insertion of <=200bp - T frameshift_variant N363N? COAD-US 7 38810819 38810819 insertion of <=200bp - T frameshift_variant N388N? COAD-US 7 38810820 38810820 deletion of <=200bp T - downstream_gene_variant COAD-US 7 38810820 38810820 deletion of <=200bp T - frameshift_variant N363 COAD-US 7 38810820 38810820 deletion of <=200bp T - frameshift_variant N388 COAD-US 7 38816280 38816280 insertion of <=200bp - T frameshift_variant T269T? COAD-US 7 38816280 38816280 insertion of <=200bp - T frameshift_variant T294T? COAD-US 7 38816280 38816280 insertion of <=200bp - T splice_region_variant COAD-US 7 38816280 38816280 insertion of <=200bp - T upstream_gene_variant COAD-US 7 38816307 38816307 single base substitution G A exon_variant COAD-US 7 38816307 38816307 single base substitution G A missense_variant S260L 779C>T COAD-US 7 38816307 38816307 single base substitution G A missense_variant S285L 854C>T COAD-US 7 38816307 38816307 single base substitution G A upstream_gene_variant COAD-US 7 38857459 38857459 single base substitution G A downstream_gene_variant COAD-US 7 38857459 38857459 single base substitution G A exon_variant COAD-US 7 38857459 38857459 single base substitution G A synonymous_variant F111F 333C>T COAD-US 7 38857459 38857459 single base substitution G A synonymous_variant F123F 369C>T COAD-US 7 38857459 38857459 single base substitution G A synonymous_variant F136F 408C>T COAD-US 7 38857459 38857459 single base substitution G A synonymous_variant F62F 186C>T COAD-US 7 38857459 38857459 single base substitution G A synonymous_variant F86F 258C>T COCA-CN 7 38762080 38762080 single base substitution T C downstream_gene_variant COCA-CN 7 38762492 38762492 single base substitution C T downstream_gene_variant COCA-CN 7 38763060 38763060 single base substitution T C 3_prime_UTR_variant COCA-CN 7 38763060 38763060 single base substitution T C downstream_gene_variant COCA-CN 7 38764350 38764350 single base substitution C T 3_prime_UTR_variant COCA-CN 7 38764350 38764350 single base substitution C T downstream_gene_variant COCA-CN 7 38772913 38772913 single base substitution G T intron_variant COCA-CN 7 38782951 38782951 single base substitution G A intron_variant COCA-CN 7 38785062 38785062 single base substitution G A intron_variant COCA-CN 7 38785707 38785707 single base substitution A C intron_variant COCA-CN 7 38785707 38785707 single base substitution A C upstream_gene_variant COCA-CN 7 38794361 38794361 single base substitution A C downstream_gene_variant COCA-CN 7 38794361 38794361 single base substitution A C intron_variant COCA-CN 7 38796675 38796675 single base substitution A G downstream_gene_variant COCA-CN 7 38796675 38796675 single base substitution A G intron_variant COCA-CN 7 38805262 38805262 single base substitution C T exon_variant COCA-CN 7 38805262 38805262 single base substitution C T splice_acceptor_variant COCA-CN 7 38810881 38810881 single base substitution A T downstream_gene_variant COCA-CN 7 38810881 38810881 single base substitution A T intron_variant COCA-CN 7 38813879 38813879 single base substitution T C intron_variant COCA-CN 7 38816183 38816183 single base substitution A C intron_variant COCA-CN 7 38816183 38816183 single base substitution A C upstream_gene_variant COCA-CN 7 38829279 38829279 single base substitution A C intron_variant COCA-CN 7 38836132 38836132 single base substitution A C downstream_gene_variant COCA-CN 7 38836132 38836132 single base substitution A C intron_variant COCA-CN 7 38836132 38836132 single base substitution A C splice_region_variant COCA-CN 7 38836522 38836522 single base substitution C G intron_variant COCA-CN 7 38838370 38838370 single base substitution G A intron_variant COCA-CN 7 38838370 38838370 single base substitution G A upstream_gene_variant COCA-CN 7 38860439 38860439 single base substitution C T downstream_gene_variant COCA-CN 7 38860439 38860439 single base substitution C T intron_variant COCA-CN 7 38869651 38869651 single base substitution T G intron_variant COCA-CN 7 38870684 38870684 single base substitution T C intron_variant COCA-CN 7 38882175 38882175 single base substitution C T intron_variant COCA-CN 7 38885745 38885745 single base substitution T A intron_variant COCA-CN 7 38887024 38887024 single base substitution G A intron_variant COCA-CN 7 38910423 38910423 single base substitution T A intron_variant COCA-CN 7 38920117 38920117 single base substitution T A intron_variant COCA-CN 7 38926894 38926894 single base substitution G A intron_variant COCA-CN 7 38936794 38936794 single base substitution C A intron_variant COCA-CN 7 38942248 38942248 single base substitution C G intron_variant COCA-CN 7 38945385 38945385 single base substitution T G intron_variant COCA-CN 7 38948928 38948928 single base substitution C A intron_variant COCA-CN 7 38948928 38948928 single base substitution C A upstream_gene_variant COCA-CN 7 38951119 38951119 single base substitution G A intron_variant COCA-CN 7 38951119 38951119 single base substitution G A upstream_gene_variant COCA-CN 7 38953584 38953584 single base substitution C A intron_variant COCA-CN 7 38953584 38953584 single base substitution C A upstream_gene_variant COCA-CN 7 38958276 38958276 single base substitution C T intron_variant COCA-CN 7 38958278 38958278 single base substitution T A intron_variant COCA-CN 7 38967195 38967195 single base substitution A G intron_variant EOPC-DE 7 38925915 38925915 single base substitution C G intron_variant EOPC-DE 7 38948681 38948681 single base substitution A C intron_variant ESAD-UK 7 38760889 38760889 single base substitution G A downstream_gene_variant ESAD-UK 7 38762374 38762374 single base substitution A C downstream_gene_variant ESAD-UK 7 38762797 38762797 single base substitution A C 3_prime_UTR_variant ESAD-UK 7 38762797 38762797 single base substitution A C downstream_gene_variant ESAD-UK 7 38762810 38762810 single base substitution A G 3_prime_UTR_variant ESAD-UK 7 38762810 38762810 single base substitution A G downstream_gene_variant ESAD-UK 7 38764840 38764840 single base substitution A G 3_prime_UTR_variant ESAD-UK 7 38764840 38764840 single base substitution A G downstream_gene_variant ESAD-UK 7 38765951 38765951 single base substitution T G intron_variant ESAD-UK 7 38766166 38766166 deletion of <=200bp A - intron_variant ESAD-UK 7 38766655 38766655 single base substitution C T exon_variant ESAD-UK 7 38766655 38766655 single base substitution C T intron_variant ESAD-UK 7 38767502 38767502 single base substitution G T intron_variant ESAD-UK 7 38767502 38767502 single base substitution G T upstream_gene_variant ESAD-UK 7 38767652 38767652 single base substitution A C intron_variant ESAD-UK 7 38767652 38767652 single base substitution A C upstream_gene_variant ESAD-UK 7 38769303 38769303 single base substitution G A intron_variant ESAD-UK 7 38769303 38769303 single base substitution G A upstream_gene_variant ESAD-UK 7 38769890 38769890 single base substitution G A intron_variant ESAD-UK 7 38769890 38769890 single base substitution G A upstream_gene_variant ESAD-UK 7 38770680 38770680 single base substitution C T intron_variant ESAD-UK 7 38770680 38770680 single base substitution C T upstream_gene_variant ESAD-UK 7 38770861 38770861 single base substitution G T intron_variant ESAD-UK 7 38770861 38770861 single base substitution G T upstream_gene_variant ESAD-UK 7 38771095 38771095 single base substitution G A intron_variant ESAD-UK 7 38771095 38771095 single base substitution G A upstream_gene_variant ESAD-UK 7 38771600 38771600 single base substitution G A intron_variant ESAD-UK 7 38771600 38771600 single base substitution G A upstream_gene_variant ESAD-UK 7 38771888 38771888 single base substitution C T intron_variant ESAD-UK 7 38774122 38774122 single base substitution A G intron_variant ESAD-UK 7 38774814 38774814 single base substitution T G intron_variant ESAD-UK 7 38775413 38775413 single base substitution C A intron_variant ESAD-UK 7 38776949 38776949 single base substitution C T downstream_gene_variant ESAD-UK 7 38776949 38776949 single base substitution C T intron_variant ESAD-UK 7 38778363 38778363 single base substitution T A downstream_gene_variant ESAD-UK 7 38778363 38778363 single base substitution T A intron_variant ESAD-UK 7 38780253 38780253 single base substitution G T downstream_gene_variant ESAD-UK 7 38780253 38780253 single base substitution G T intron_variant ESAD-UK 7 38781180 38781180 single base substitution C T intron_variant ESAD-UK 7 38782376 38782376 insertion of <=200bp - C intron_variant ESAD-UK 7 38783568 38783568 single base substitution C A intron_variant ESAD-UK 7 38785038 38785038 single base substitution A C intron_variant ESAD-UK 7 38787173 38787173 single base substitution T G intron_variant ESAD-UK 7 38787173 38787173 single base substitution T G upstream_gene_variant ESAD-UK 7 38788429 38788429 single base substitution C T intron_variant ESAD-UK 7 38788429 38788429 single base substitution C T upstream_gene_variant ESAD-UK 7 38789911 38789911 single base substitution C G intron_variant ESAD-UK 7 38789911 38789911 single base substitution C G upstream_gene_variant ESAD-UK 7 38789961 38789961 single base substitution C A intron_variant ESAD-UK 7 38789961 38789961 single base substitution C A upstream_gene_variant ESAD-UK 7 38796173 38796173 single base substitution C T downstream_gene_variant ESAD-UK 7 38796173 38796173 single base substitution C T intron_variant ESAD-UK 7 38796723 38796723 deletion of <=200bp T - downstream_gene_variant ESAD-UK 7 38796723 38796723 deletion of <=200bp T - intron_variant ESAD-UK 7 38797728 38797728 single base substitution C T downstream_gene_variant ESAD-UK 7 38797728 38797728 single base substitution C T intron_variant ESAD-UK 7 38799798 38799798 single base substitution C T intron_variant ESAD-UK 7 38799978 38799978 single base substitution G A intron_variant ESAD-UK 7 38801741 38801741 single base substitution T G intron_variant ESAD-UK 7 38802398 38802398 single base substitution C G intron_variant ESAD-UK 7 38802409 38802409 single base substitution G A intron_variant ESAD-UK 7 38805006 38805006 single base substitution T G intron_variant ESAD-UK 7 38807263 38807263 single base substitution T G downstream_gene_variant ESAD-UK 7 38807263 38807263 single base substitution T G intron_variant ESAD-UK 7 38807263 38807263 single base substitution T G upstream_gene_variant ESAD-UK 7 38807357 38807357 single base substitution T A downstream_gene_variant ESAD-UK 7 38807357 38807357 single base substitution T A intron_variant ESAD-UK 7 38807357 38807357 single base substitution T A upstream_gene_variant ESAD-UK 7 38808964 38808964 single base substitution G A downstream_gene_variant ESAD-UK 7 38808964 38808964 single base substitution G A intron_variant ESAD-UK 7 38808964 38808964 single base substitution G A upstream_gene_variant ESAD-UK 7 38809777 38809777 single base substitution G A downstream_gene_variant ESAD-UK 7 38809777 38809777 single base substitution G A intron_variant ESAD-UK 7 38809777 38809777 single base substitution G A upstream_gene_variant ESAD-UK 7 38810026 38810026 single base substitution G T downstream_gene_variant ESAD-UK 7 38810026 38810026 single base substitution G T intron_variant ESAD-UK 7 38810026 38810026 single base substitution G T upstream_gene_variant ESAD-UK 7 38811202 38811202 deletion of <=200bp A - downstream_gene_variant ESAD-UK 7 38811202 38811202 deletion of <=200bp A - intron_variant ESAD-UK 7 38811558 38811558 single base substitution A T downstream_gene_variant ESAD-UK 7 38811558 38811558 single base substitution A T intron_variant ESAD-UK 7 38811941 38811941 single base substitution T C downstream_gene_variant ESAD-UK 7 38811941 38811941 single base substitution T C intron_variant ESAD-UK 7 38812291 38812291 single base substitution G T downstream_gene_variant ESAD-UK 7 38812291 38812291 single base substitution G T intron_variant ESAD-UK 7 38812447 38812447 single base substitution G C downstream_gene_variant ESAD-UK 7 38812447 38812447 single base substitution G C intron_variant ESAD-UK 7 38813327 38813327 single base substitution G T downstream_gene_variant ESAD-UK 7 38813327 38813327 single base substitution G T intron_variant ESAD-UK 7 38815437 38815437 single base substitution A T intron_variant ESAD-UK 7 38815437 38815437 single base substitution A T upstream_gene_variant ESAD-UK 7 38816939 38816939 single base substitution G A intron_variant ESAD-UK 7 38816939 38816939 single base substitution G A upstream_gene_variant ESAD-UK 7 38818011 38818011 single base substitution C T intron_variant ESAD-UK 7 38818011 38818011 single base substitution C T upstream_gene_variant ESAD-UK 7 38818204 38818204 single base substitution T C intron_variant ESAD-UK 7 38818204 38818204 single base substitution T C upstream_gene_variant ESAD-UK 7 38818707 38818707 single base substitution G A intron_variant ESAD-UK 7 38818707 38818707 single base substitution G A upstream_gene_variant ESAD-UK 7 38820509 38820509 single base substitution A C intron_variant ESAD-UK 7 38822063 38822063 single base substitution A C intron_variant ESAD-UK 7 38822986 38822986 single base substitution T G intron_variant ESAD-UK 7 38823042 38823042 single base substitution G C intron_variant ESAD-UK 7 38823440 38823440 single base substitution T A intron_variant ESAD-UK 7 38823678 38823678 single base substitution G A intron_variant ESAD-UK 7 38823857 38823857 single base substitution A C intron_variant ESAD-UK 7 38824543 38824543 single base substitution G A intron_variant ESAD-UK 7 38825954 38825954 single base substitution T C intron_variant ESAD-UK 7 38826435 38826435 single base substitution A G intron_variant ESAD-UK 7 38826751 38826751 single base substitution T C intron_variant ESAD-UK 7 38829112 38829112 single base substitution C T intron_variant ESAD-UK 7 38829793 38829793 single base substitution A C intron_variant ESAD-UK 7 38830291 38830291 single base substitution G A downstream_gene_variant ESAD-UK 7 38830291 38830291 single base substitution G A intron_variant ESAD-UK 7 38831599 38831599 single base substitution C T downstream_gene_variant ESAD-UK 7 38831599 38831599 single base substitution C T intron_variant ESAD-UK 7 38833492 38833492 single base substitution C T downstream_gene_variant ESAD-UK 7 38833492 38833492 single base substitution C T intron_variant ESAD-UK 7 38835011 38835011 single base substitution A G downstream_gene_variant ESAD-UK 7 38835011 38835011 single base substitution A G intron_variant ESAD-UK 7 38835308 38835308 single base substitution G A downstream_gene_variant ESAD-UK 7 38835308 38835308 single base substitution G A intron_variant ESAD-UK 7 38836122 38836122 single base substitution T G downstream_gene_variant ESAD-UK 7 38836122 38836122 single base substitution T G exon_variant ESAD-UK 7 38836122 38836122 single base substitution T G intron_variant ESAD-UK 7 38836338 38836338 single base substitution T G downstream_gene_variant ESAD-UK 7 38836338 38836338 single base substitution T G intron_variant ESAD-UK 7 38836338 38836338 single base substitution T G splice_region_variant ESAD-UK 7 38836699 38836699 single base substitution A G intron_variant ESAD-UK 7 38836699 38836699 single base substitution A G upstream_gene_variant ESAD-UK 7 38836725 38836725 single base substitution A C intron_variant ESAD-UK 7 38836725 38836725 single base substitution A C upstream_gene_variant ESAD-UK 7 38837404 38837404 single base substitution T C intron_variant ESAD-UK 7 38837404 38837404 single base substitution T C upstream_gene_variant ESAD-UK 7 38837687 38837687 single base substitution G A intron_variant ESAD-UK 7 38837687 38837687 single base substitution G A upstream_gene_variant ESAD-UK 7 38839588 38839588 single base substitution A G intron_variant ESAD-UK 7 38839588 38839588 single base substitution A G upstream_gene_variant ESAD-UK 7 38841405 38841405 single base substitution T C intron_variant ESAD-UK 7 38841405 38841405 single base substitution T C upstream_gene_variant ESAD-UK 7 38842109 38842109 single base substitution A G intron_variant ESAD-UK 7 38842285 38842285 single base substitution A T intron_variant ESAD-UK 7 38842336 38842336 deletion of <=200bp T - intron_variant ESAD-UK 7 38844580 38844580 single base substitution G A intron_variant ESAD-UK 7 38845369 38845369 single base substitution G A intron_variant ESAD-UK 7 38845554 38845554 single base substitution C T intron_variant ESAD-UK 7 38846576 38846576 single base substitution T A intron_variant ESAD-UK 7 38847296 38847296 single base substitution G A intron_variant ESAD-UK 7 38847609 38847609 single base substitution C T intron_variant ESAD-UK 7 38847733 38847733 single base substitution A C intron_variant ESAD-UK 7 38848520 38848520 single base substitution G A intron_variant ESAD-UK 7 38848820 38848820 single base substitution G A intron_variant ESAD-UK 7 38849614 38849616 deletion of <=200bp AAA - intron_variant ESAD-UK 7 38849618 38849618 single base substitution G C intron_variant ESAD-UK 7 38850735 38850735 single base substitution A G intron_variant ESAD-UK 7 38850752 38850752 single base substitution G A intron_variant ESAD-UK 7 38851694 38851694 single base substitution G C intron_variant ESAD-UK 7 38852807 38852807 single base substitution G A downstream_gene_variant ESAD-UK 7 38852807 38852807 single base substitution G A intron_variant ESAD-UK 7 38853025 38853025 single base substitution A G downstream_gene_variant ESAD-UK 7 38853025 38853025 single base substitution A G intron_variant ESAD-UK 7 38853986 38853986 single base substitution T G downstream_gene_variant ESAD-UK 7 38853986 38853986 single base substitution T G intron_variant ESAD-UK 7 38854272 38854272 single base substitution A T downstream_gene_variant ESAD-UK 7 38854272 38854272 single base substitution A T intron_variant ESAD-UK 7 38855045 38855045 single base substitution T A downstream_gene_variant ESAD-UK 7 38855045 38855045 single base substitution T A intron_variant ESAD-UK 7 38859080 38859080 single base substitution G C downstream_gene_variant ESAD-UK 7 38859080 38859080 single base substitution G C intron_variant ESAD-UK 7 38859328 38859328 single base substitution G A downstream_gene_variant ESAD-UK 7 38859328 38859328 single base substitution G A intron_variant ESAD-UK 7 38861130 38861130 single base substitution G A intron_variant ESAD-UK 7 38861898 38861898 single base substitution G T intron_variant ESAD-UK 7 38862231 38862231 single base substitution A C intron_variant ESAD-UK 7 38862777 38862777 single base substitution A C intron_variant ESAD-UK 7 38863849 38863849 single base substitution A C intron_variant ESAD-UK 7 38863889 38863889 single base substitution T G intron_variant ESAD-UK 7 38865050 38865051 deletion of <=200bp CT - intron_variant ESAD-UK 7 38865479 38865479 single base substitution C T intron_variant ESAD-UK 7 38866490 38866490 single base substitution C T intron_variant ESAD-UK 7 38866579 38866579 single base substitution C T intron_variant ESAD-UK 7 38866885 38866896 deletion of <=200bp AACAAGTAGAGG - intron_variant ESAD-UK 7 38867602 38867602 single base substitution A G intron_variant ESAD-UK 7 38868008 38868008 single base substitution G T intron_variant ESAD-UK 7 38868216 38868216 single base substitution C A intron_variant ESAD-UK 7 38868284 38868284 single base substitution A G intron_variant ESAD-UK 7 38871597 38871597 insertion of <=200bp - T intron_variant ESAD-UK 7 38871597 38871597 insertion of <=200bp - T upstream_gene_variant ESAD-UK 7 38872683 38872683 single base substitution G C intron_variant ESAD-UK 7 38872683 38872683 single base substitution G C upstream_gene_variant ESAD-UK 7 38873439 38873439 single base substitution G A intron_variant ESAD-UK 7 38873439 38873439 single base substitution G A upstream_gene_variant ESAD-UK 7 38874629 38874629 single base substitution C A intron_variant ESAD-UK 7 38874629 38874629 single base substitution C A upstream_gene_variant ESAD-UK 7 38875292 38875292 deletion of <=200bp T - intron_variant ESAD-UK 7 38875292 38875292 deletion of <=200bp T - upstream_gene_variant ESAD-UK 7 38877464 38877464 deletion of <=200bp A - intron_variant ESAD-UK 7 38878658 38878658 single base substitution A C intron_variant ESAD-UK 7 38879578 38879578 single base substitution C A intron_variant ESAD-UK 7 38879735 38879735 single base substitution T A intron_variant ESAD-UK 7 38880866 38880866 single base substitution G A intron_variant ESAD-UK 7 38881750 38881750 single base substitution A C intron_variant ESAD-UK 7 38882226 38882226 single base substitution C T intron_variant ESAD-UK 7 38882410 38882410 single base substitution A G intron_variant ESAD-UK 7 38882714 38882714 single base substitution T A intron_variant ESAD-UK 7 38883075 38883075 single base substitution G T intron_variant ESAD-UK 7 38883179 38883179 single base substitution G A intron_variant ESAD-UK 7 38886034 38886034 single base substitution C T intron_variant ESAD-UK 7 38886048 38886048 single base substitution C T intron_variant ESAD-UK 7 38886223 38886223 single base substitution A G intron_variant ESAD-UK 7 38889281 38889281 single base substitution G T intron_variant ESAD-UK 7 38890109 38890109 single base substitution C T intron_variant ESAD-UK 7 38890385 38890385 single base substitution C G intron_variant ESAD-UK 7 38890881 38890881 single base substitution A G intron_variant ESAD-UK 7 38894741 38894741 single base substitution C T intron_variant ESAD-UK 7 38897357 38897357 single base substitution T G intron_variant ESAD-UK 7 38899485 38899485 single base substitution A G intron_variant ESAD-UK 7 38899565 38899565 single base substitution C A intron_variant ESAD-UK 7 38900395 38900395 single base substitution T G intron_variant ESAD-UK 7 38901632 38901632 single base substitution A T intron_variant ESAD-UK 7 38903035 38903035 single base substitution G A intron_variant ESAD-UK 7 38908841 38908841 single base substitution C T 5_prime_UTR_variant ESAD-UK 7 38908841 38908841 single base substitution C T exon_variant ESAD-UK 7 38908841 38908841 single base substitution C T missense_variant E12K 34G>A ESAD-UK 7 38908841 38908841 single base substitution C T missense_variant E25K 73G>A ESAD-UK 7 38910258 38910258 insertion of <=200bp - A intron_variant ESAD-UK 7 38911123 38911123 single base substitution A G intron_variant ESAD-UK 7 38911391 38911391 single base substitution T C intron_variant ESAD-UK 7 38912381 38912381 insertion of <=200bp - A intron_variant ESAD-UK 7 38913153 38913153 single base substitution A G intron_variant ESAD-UK 7 38914286 38914286 insertion of <=200bp - C intron_variant ESAD-UK 7 38915307 38915307 single base substitution A T intron_variant ESAD-UK 7 38915871 38915871 single base substitution C A intron_variant ESAD-UK 7 38918716 38918716 single base substitution G A intron_variant ESAD-UK 7 38920368 38920368 single base substitution T C intron_variant ESAD-UK 7 38920640 38920640 single base substitution T A intron_variant ESAD-UK 7 38922801 38922801 single base substitution C T intron_variant ESAD-UK 7 38924314 38924314 single base substitution C T intron_variant ESAD-UK 7 38924578 38924578 single base substitution C G intron_variant ESAD-UK 7 38925321 38925321 single base substitution T C intron_variant ESAD-UK 7 38925450 38925450 single base substitution A T intron_variant ESAD-UK 7 38925533 38925533 single base substitution G T intron_variant ESAD-UK 7 38927038 38927038 single base substitution G A intron_variant ESAD-UK 7 38927953 38927953 single base substitution G A intron_variant ESAD-UK 7 38930658 38930658 single base substitution G A intron_variant ESAD-UK 7 38930745 38930745 single base substitution T C intron_variant ESAD-UK 7 38931407 38931407 single base substitution C T intron_variant ESAD-UK 7 38932162 38932162 single base substitution G C intron_variant ESAD-UK 7 38932780 38932780 single base substitution C T intron_variant ESAD-UK 7 38932781 38932781 single base substitution C T intron_variant ESAD-UK 7 38932782 38932782 single base substitution A G intron_variant ESAD-UK 7 38933284 38933284 single base substitution C A intron_variant ESAD-UK 7 38933285 38933285 single base substitution T C intron_variant ESAD-UK 7 38937630 38937630 single base substitution G A intron_variant ESAD-UK 7 38938990 38938990 deletion of <=200bp A - intron_variant ESAD-UK 7 38940607 38940607 single base substitution G C intron_variant ESAD-UK 7 38942333 38942333 single base substitution C T intron_variant ESAD-UK 7 38946453 38946453 single base substitution G A intron_variant ESAD-UK 7 38949892 38949892 single base substitution C G intron_variant ESAD-UK 7 38949892 38949892 single base substitution C G upstream_gene_variant ESAD-UK 7 38950183 38950183 single base substitution T C intron_variant ESAD-UK 7 38950183 38950183 single base substitution T C upstream_gene_variant ESAD-UK 7 38950356 38950356 single base substitution C G intron_variant ESAD-UK 7 38950356 38950356 single base substitution C G upstream_gene_variant ESAD-UK 7 38950453 38950453 single base substitution C T intron_variant ESAD-UK 7 38950453 38950453 single base substitution C T upstream_gene_variant ESAD-UK 7 38950554 38950554 single base substitution A G intron_variant ESAD-UK 7 38950554 38950554 single base substitution A G upstream_gene_variant ESAD-UK 7 38952349 38952349 single base substitution A T intron_variant ESAD-UK 7 38952349 38952349 single base substitution A T upstream_gene_variant ESAD-UK 7 38953464 38953464 insertion of <=200bp - A intron_variant ESAD-UK 7 38953464 38953464 insertion of <=200bp - A upstream_gene_variant ESAD-UK 7 38955147 38955147 single base substitution A C intron_variant ESAD-UK 7 38955249 38955249 single base substitution C T intron_variant ESAD-UK 7 38955421 38955421 single base substitution G A intron_variant ESAD-UK 7 38955483 38955483 single base substitution C T intron_variant ESAD-UK 7 38956016 38956016 single base substitution T C intron_variant ESAD-UK 7 38956507 38956507 single base substitution C T intron_variant ESAD-UK 7 38956508 38956508 single base substitution A T intron_variant ESAD-UK 7 38958534 38958534 deletion of <=200bp C - intron_variant ESAD-UK 7 38960492 38960492 single base substitution T G intron_variant ESAD-UK 7 38962079 38962079 single base substitution C T intron_variant ESAD-UK 7 38962271 38962271 single base substitution C T intron_variant ESAD-UK 7 38963452 38963452 single base substitution T G intron_variant ESAD-UK 7 38963529 38963529 single base substitution T G intron_variant ESAD-UK 7 38964388 38964388 single base substitution A C intron_variant ESAD-UK 7 38964951 38964951 single base substitution T G intron_variant ESAD-UK 7 38964988 38964988 single base substitution G A intron_variant ESAD-UK 7 38965113 38965113 single base substitution A C intron_variant ESAD-UK 7 38965237 38965237 single base substitution T G intron_variant ESAD-UK 7 38965965 38965965 single base substitution A G intron_variant ESAD-UK 7 38965980 38965980 insertion of <=200bp - AC intron_variant ESAD-UK 7 38966197 38966197 single base substitution A T intron_variant ESAD-UK 7 38967298 38967298 single base substitution C T intron_variant ESAD-UK 7 38967328 38967328 single base substitution G A intron_variant ESAD-UK 7 38968011 38968011 single base substitution C G intron_variant ESAD-UK 7 38968272 38968272 single base substitution T G intron_variant ESAD-UK 7 38968325 38968325 single base substitution C T intron_variant ESAD-UK 7 38968550 38968550 single base substitution C A intron_variant ESAD-UK 7 38968882 38968882 single base substitution C T intron_variant ESAD-UK 7 38969205 38969205 single base substitution T G intron_variant ESAD-UK 7 38969205 38969205 single base substitution T G upstream_gene_variant ESAD-UK 7 38970470 38970470 single base substitution A C intron_variant ESAD-UK 7 38970470 38970470 single base substitution A C upstream_gene_variant ESAD-UK 7 38971113 38971113 single base substitution G T intron_variant ESAD-UK 7 38971113 38971113 single base substitution G T upstream_gene_variant ESAD-UK 7 38971155 38971155 single base substitution G T intron_variant ESAD-UK 7 38971155 38971155 single base substitution G T upstream_gene_variant ESAD-UK 7 38972349 38972349 single base substitution A C upstream_gene_variant ESAD-UK 7 38972749 38972749 single base substitution G A upstream_gene_variant ESAD-UK 7 38974097 38974097 single base substitution G T upstream_gene_variant ESAD-UK 7 38974192 38974192 single base substitution C A upstream_gene_variant ESAD-UK 7 38976507 38976507 single base substitution A G upstream_gene_variant ESCA-CN 7 38766517 38766517 single base substitution G A 3_prime_UTR_variant ESCA-CN 7 38766517 38766517 single base substitution G A exon_variant ESCA-CN 7 38766517 38766517 single base substitution G A missense_variant P801S 2401C>T ESCA-CN 7 38766517 38766517 single base substitution G A missense_variant P826S 2476C>T ESCA-CN 7 38803093 38803093 single base substitution C A exon_variant ESCA-CN 7 38803093 38803093 single base substitution C A stop_gained E437* 1309G>T ESCA-CN 7 38803093 38803093 single base substitution C A stop_gained E462* 1384G>T GBM-US 7 38798055 38798055 single base substitution C A exon_variant GBM-US 7 38798055 38798055 single base substitution C A missense_variant W458C 1374G>T GBM-US 7 38798055 38798055 single base substitution C A missense_variant W483C 1449G>T GBM-US 7 38816326 38816326 single base substitution C T exon_variant GBM-US 7 38816326 38816326 single base substitution C T missense_variant D254N 760G>A GBM-US 7 38816326 38816326 single base substitution C T missense_variant D279N 835G>A GBM-US 7 38816326 38816326 single base substitution C T upstream_gene_variant GBM-US 7 38835094 38835094 single base substitution G C downstream_gene_variant GBM-US 7 38835094 38835094 single base substitution G C exon_variant GBM-US 7 38835094 38835094 single base substitution G C missense_variant L156V 466C>G GBM-US 7 38835094 38835094 single base substitution G C missense_variant L205V 613C>G GBM-US 7 38835094 38835094 single base substitution G C missense_variant L230V 688C>G KIRC-US 7 38803128 38803128 single base substitution G C exon_variant KIRC-US 7 38803128 38803128 single base substitution G C missense_variant P425R 1274C>G KIRC-US 7 38803128 38803128 single base substitution G C missense_variant P450R 1349C>G KIRC-US 7 38857441 38857441 single base substitution C A downstream_gene_variant KIRC-US 7 38857441 38857441 single base substitution C A exon_variant KIRC-US 7 38857441 38857441 single base substitution C A missense_variant K117N 351G>T KIRC-US 7 38857441 38857441 single base substitution C A missense_variant K129N 387G>T KIRC-US 7 38857441 38857441 single base substitution C A missense_variant K142N 426G>T KIRC-US 7 38857441 38857441 single base substitution C A missense_variant K68N 204G>T KIRC-US 7 38857441 38857441 single base substitution C A missense_variant K92N 276G>T KIRP-US 7 38783049 38783049 single base substitution T A exon_variant KIRP-US 7 38783049 38783049 single base substitution T A missense_variant D33V 98A>T KIRP-US 7 38783049 38783049 single base substitution T A missense_variant D667V 2000A>T KIRP-US 7 38783049 38783049 single base substitution T A missense_variant D692V 2075A>T LAML-KR 7 38780779 38780779 single base substitution C A downstream_gene_variant LAML-KR 7 38780779 38780779 single base substitution C A intron_variant LAML-KR 7 38816441 38816441 single base substitution A G intron_variant LAML-KR 7 38816441 38816441 single base substitution A G upstream_gene_variant LAML-KR 7 38860933 38860933 single base substitution A G intron_variant LAML-KR 7 38861014 38861014 single base substitution T C intron_variant LGG-US 7 38796519 38796519 single base substitution G A downstream_gene_variant LGG-US 7 38796519 38796519 single base substitution G A synonymous_variant D513D 1539C>T LGG-US 7 38796519 38796519 single base substitution G A synonymous_variant D538D 1614C>T LICA-FR 7 38785870 38785870 single base substitution A G intron_variant LICA-FR 7 38785870 38785870 single base substitution A G upstream_gene_variant LICA-FR 7 38803816 38803816 single base substitution G A intron_variant LICA-FR 7 38809870 38809870 deletion of <=200bp A - downstream_gene_variant LICA-FR 7 38809870 38809870 deletion of <=200bp A - intron_variant LICA-FR 7 38809870 38809870 deletion of <=200bp A - upstream_gene_variant LICA-FR 7 38818371 38818378 deletion of <=200bp GAAGGAGG - intron_variant LICA-FR 7 38818371 38818378 deletion of <=200bp GAAGGAGG - upstream_gene_variant LICA-FR 7 38834571 38834571 single base substitution T A downstream_gene_variant LICA-FR 7 38834571 38834571 single base substitution T A intron_variant LICA-FR 7 38843320 38843320 single base substitution G C intron_variant LICA-FR 7 38857424 38857424 single base substitution C T downstream_gene_variant LICA-FR 7 38857424 38857424 single base substitution C T exon_variant LICA-FR 7 38857424 38857424 single base substitution C T missense_variant G123E 368G>A LICA-FR 7 38857424 38857424 single base substitution C T missense_variant G135E 404G>A LICA-FR 7 38857424 38857424 single base substitution C T missense_variant G148E 443G>A LICA-FR 7 38857424 38857424 single base substitution C T missense_variant G74E 221G>A LICA-FR 7 38857424 38857424 single base substitution C T missense_variant G98E 293G>A LICA-FR 7 38900921 38900921 single base substitution A C intron_variant LICA-FR 7 38908866 38908866 single base substitution C T intron_variant LICA-FR 7 38916343 38916343 single base substitution A T intron_variant LICA-FR 7 38937245 38937246 deletion of <=200bp AA - intron_variant LICA-FR 7 38970436 38970436 single base substitution C T intron_variant LICA-FR 7 38970436 38970436 single base substitution C T upstream_gene_variant LINC-JP 7 38758730 38758730 single base substitution C A downstream_gene_variant LINC-JP 7 38760947 38760947 single base substitution A C downstream_gene_variant LINC-JP 7 38764204 38764204 single base substitution C T 3_prime_UTR_variant LINC-JP 7 38764204 38764204 single base substitution C T downstream_gene_variant LINC-JP 7 38764831 38764831 single base substitution T C 3_prime_UTR_variant LINC-JP 7 38764831 38764831 single base substitution T C downstream_gene_variant LINC-JP 7 38766478 38766478 single base substitution C A intron_variant LINC-JP 7 38766544 38766544 single base substitution T C 3_prime_UTR_variant LINC-JP 7 38766544 38766544 single base substitution T C exon_variant LINC-JP 7 38766544 38766544 single base substitution T C missense_variant M792V 2374A>G LINC-JP 7 38766544 38766544 single base substitution T C missense_variant M817V 2449A>G LINC-JP 7 38777703 38777703 single base substitution T C downstream_gene_variant LINC-JP 7 38777703 38777703 single base substitution T C intron_variant LINC-JP 7 38781016 38781016 single base substitution A G intron_variant LINC-JP 7 38781660 38781660 single base substitution G T exon_variant LINC-JP 7 38781660 38781660 single base substitution G T missense_variant H69Q 207C>A LINC-JP 7 38781660 38781660 single base substitution G T missense_variant H703Q 2109C>A LINC-JP 7 38781660 38781660 single base substitution G T missense_variant H728Q 2184C>A LINC-JP 7 38782677 38782677 single base substitution C A intron_variant LINC-JP 7 38782678 38782678 single base substitution A C intron_variant LINC-JP 7 38783578 38783578 single base substitution C T intron_variant LINC-JP 7 38790710 38790710 single base substitution C A intron_variant LINC-JP 7 38791627 38791627 single base substitution C A intron_variant LINC-JP 7 38791628 38791628 single base substitution A G intron_variant LINC-JP 7 38791818 38791818 single base substitution T C synonymous_variant L603L 1809A>G LINC-JP 7 38791818 38791818 single base substitution T C synonymous_variant L628L 1884A>G LINC-JP 7 38798086 38798086 single base substitution C A intron_variant LINC-JP 7 38798086 38798086 single base substitution C A splice_region_variant LINC-JP 7 38798609 38798609 single base substitution A G intron_variant LINC-JP 7 38799457 38799457 single base substitution T C intron_variant LINC-JP 7 38800827 38800827 single base substitution C A intron_variant LINC-JP 7 38801202 38801202 single base substitution C T intron_variant LINC-JP 7 38801249 38801249 single base substitution T C intron_variant LINC-JP 7 38810446 38810446 single base substitution G A downstream_gene_variant LINC-JP 7 38810446 38810446 single base substitution G A intron_variant LINC-JP 7 38816864 38816864 single base substitution C T intron_variant LINC-JP 7 38816864 38816864 single base substitution C T upstream_gene_variant LINC-JP 7 38834916 38834916 single base substitution T C downstream_gene_variant LINC-JP 7 38834916 38834916 single base substitution T C intron_variant LINC-JP 7 38835881 38835881 single base substitution T C downstream_gene_variant LINC-JP 7 38835881 38835881 single base substitution T C intron_variant LINC-JP 7 38836407 38836407 single base substitution C T exon_variant LINC-JP 7 38836407 38836407 single base substitution C T intron_variant LINC-JP 7 38836407 38836407 single base substitution C T missense_variant G145R 433G>A LINC-JP 7 38836407 38836407 single base substitution C T missense_variant G157R 469G>A LINC-JP 7 38836407 38836407 single base substitution C T missense_variant G170R 508G>A LINC-JP 7 38836407 38836407 single base substitution C T missense_variant G96R 286G>A LINC-JP 7 38855535 38855535 single base substitution T C downstream_gene_variant LINC-JP 7 38855535 38855535 single base substitution T C intron_variant LINC-JP 7 38861322 38861322 single base substitution G A intron_variant LINC-JP 7 38880332 38880332 single base substitution G A intron_variant LINC-JP 7 38883409 38883409 single base substitution G A intron_variant LINC-JP 7 38905036 38905036 insertion of <=200bp - A intron_variant LINC-JP 7 38916410 38916410 single base substitution T C intron_variant LINC-JP 7 38929085 38929085 single base substitution A T intron_variant LINC-JP 7 38935707 38935707 single base substitution T C intron_variant LINC-JP 7 38949614 38949614 single base substitution A G intron_variant LINC-JP 7 38949614 38949614 single base substitution A G upstream_gene_variant LINC-JP 7 38955130 38955130 single base substitution G T intron_variant LINC-JP 7 38955131 38955131 single base substitution C T intron_variant LINC-JP 7 38955273 38955273 single base substitution C T intron_variant LINC-JP 7 38958493 38958493 single base substitution G A intron_variant LINC-JP 7 38965557 38965557 single base substitution G A intron_variant LINC-JP 7 38970299 38970299 single base substitution C A intron_variant LINC-JP 7 38970299 38970299 single base substitution C A upstream_gene_variant LINC-JP 7 38973956 38973956 single base substitution C A upstream_gene_variant LIRI-JP 7 38759150 38759150 single base substitution A G downstream_gene_variant LIRI-JP 7 38759178 38759178 single base substitution C A downstream_gene_variant LIRI-JP 7 38759716 38759716 single base substitution A G downstream_gene_variant LIRI-JP 7 38759752 38759752 single base substitution C A downstream_gene_variant LIRI-JP 7 38761606 38761606 single base substitution T C downstream_gene_variant LIRI-JP 7 38762549 38762549 single base substitution T C downstream_gene_variant LIRI-JP 7 38763012 38763012 single base substitution G A 3_prime_UTR_variant LIRI-JP 7 38763012 38763012 single base substitution G A downstream_gene_variant LIRI-JP 7 38763555 38763555 single base substitution T C 3_prime_UTR_variant LIRI-JP 7 38763555 38763555 single base substitution T C downstream_gene_variant LIRI-JP 7 38763977 38763977 single base substitution T A 3_prime_UTR_variant LIRI-JP 7 38763977 38763977 single base substitution T A downstream_gene_variant LIRI-JP 7 38767382 38767382 single base substitution G A intron_variant LIRI-JP 7 38767382 38767382 single base substitution G A upstream_gene_variant LIRI-JP 7 38768078 38768078 single base substitution A C intron_variant LIRI-JP 7 38768078 38768078 single base substitution A C upstream_gene_variant LIRI-JP 7 38768396 38768396 single base substitution T A splice_region_variant LIRI-JP 7 38768396 38768396 single base substitution T A upstream_gene_variant LIRI-JP 7 38769060 38769060 single base substitution G T intron_variant LIRI-JP 7 38769060 38769060 single base substitution G T upstream_gene_variant LIRI-JP 7 38769149 38769149 single base substitution T C intron_variant LIRI-JP 7 38769149 38769149 single base substitution T C upstream_gene_variant LIRI-JP 7 38770042 38770042 single base substitution T A intron_variant LIRI-JP 7 38770042 38770042 single base substitution T A upstream_gene_variant LIRI-JP 7 38770929 38770929 single base substitution A G intron_variant LIRI-JP 7 38770929 38770929 single base substitution A G upstream_gene_variant LIRI-JP 7 38771782 38771782 single base substitution T A intron_variant LIRI-JP 7 38771782 38771782 single base substitution T A upstream_gene_variant LIRI-JP 7 38771883 38771883 single base substitution A T intron_variant LIRI-JP 7 38771962 38771962 single base substitution T C intron_variant LIRI-JP 7 38772065 38772065 single base substitution T C intron_variant LIRI-JP 7 38772786 38772786 single base substitution T C intron_variant LIRI-JP 7 38774348 38774348 single base substitution C T intron_variant LIRI-JP 7 38774827 38774827 single base substitution T C intron_variant LIRI-JP 7 38776170 38776170 single base substitution T C downstream_gene_variant LIRI-JP 7 38776170 38776170 single base substitution T C intron_variant LIRI-JP 7 38776636 38776636 single base substitution C T downstream_gene_variant LIRI-JP 7 38776636 38776636 single base substitution C T intron_variant LIRI-JP 7 38781582 38781582 single base substitution T G splice_region_variant LIRI-JP 7 38781590 38781590 single base substitution A C exon_variant LIRI-JP 7 38781590 38781590 single base substitution A C missense_variant L727V 2179T>G LIRI-JP 7 38781590 38781590 single base substitution A C missense_variant L752V 2254T>G LIRI-JP 7 38781590 38781590 single base substitution A C missense_variant L93V 277T>G LIRI-JP 7 38781600 38781600 single base substitution T C exon_variant LIRI-JP 7 38781600 38781600 single base substitution T C synonymous_variant Q723Q 2169A>G LIRI-JP 7 38781600 38781600 single base substitution T C synonymous_variant Q748Q 2244A>G LIRI-JP 7 38781600 38781600 single base substitution T C synonymous_variant Q89Q 267A>G LIRI-JP 7 38781850 38781850 single base substitution T C intron_variant LIRI-JP 7 38781920 38781920 deletion of <=200bp C - intron_variant LIRI-JP 7 38782104 38782104 single base substitution C A intron_variant LIRI-JP 7 38782575 38782575 deletion of <=200bp C - intron_variant LIRI-JP 7 38783115 38783115 single base substitution A G exon_variant LIRI-JP 7 38783115 38783115 single base substitution A G missense_variant L11P 32T>C LIRI-JP 7 38783115 38783115 single base substitution A G missense_variant L645P 1934T>C LIRI-JP 7 38783115 38783115 single base substitution A G missense_variant L670P 2009T>C LIRI-JP 7 38783235 38783235 single base substitution G T intron_variant LIRI-JP 7 38785507 38785507 single base substitution T A exon_variant LIRI-JP 7 38785507 38785507 single base substitution T A intron_variant LIRI-JP 7 38785507 38785507 single base substitution T A upstream_gene_variant LIRI-JP 7 38785688 38785688 single base substitution C A intron_variant LIRI-JP 7 38785688 38785688 single base substitution C A upstream_gene_variant LIRI-JP 7 38787042 38787042 single base substitution T A intron_variant LIRI-JP 7 38787042 38787042 single base substitution T A upstream_gene_variant LIRI-JP 7 38787276 38787276 single base substitution A C intron_variant LIRI-JP 7 38787276 38787276 single base substitution A C upstream_gene_variant LIRI-JP 7 38789083 38789098 deletion of <=200bp GCCTTTGAAAGCTTAA - intron_variant LIRI-JP 7 38789083 38789098 deletion of <=200bp GCCTTTGAAAGCTTAA - upstream_gene_variant LIRI-JP 7 38790558 38790558 single base substitution T G intron_variant LIRI-JP 7 38790558 38790558 single base substitution T G upstream_gene_variant LIRI-JP 7 38791779 38791779 single base substitution T C synonymous_variant E616E 1848A>G LIRI-JP 7 38791779 38791779 single base substitution T C synonymous_variant E641E 1923A>G LIRI-JP 7 38791829 38791829 single base substitution G A stop_gained R600* 1798C>T LIRI-JP 7 38791829 38791829 single base substitution G A stop_gained R625* 1873C>T LIRI-JP 7 38794641 38794641 single base substitution T C downstream_gene_variant LIRI-JP 7 38794641 38794641 single base substitution T C intron_variant LIRI-JP 7 38795630 38795630 single base substitution G A downstream_gene_variant LIRI-JP 7 38795630 38795630 single base substitution G A intron_variant LIRI-JP 7 38795930 38795930 single base substitution T A downstream_gene_variant LIRI-JP 7 38795930 38795930 single base substitution T A intron_variant LIRI-JP 7 38797819 38797819 single base substitution G C downstream_gene_variant LIRI-JP 7 38797819 38797819 single base substitution G C intron_variant LIRI-JP 7 38798038 38798038 single base substitution T C exon_variant LIRI-JP 7 38798038 38798038 single base substitution T C missense_variant N464S 1391A>G LIRI-JP 7 38798038 38798038 single base substitution T C missense_variant N489S 1466A>G LIRI-JP 7 38800550 38800550 single base substitution C T intron_variant LIRI-JP 7 38801103 38801103 single base substitution T C intron_variant LIRI-JP 7 38801597 38801597 single base substitution A C intron_variant LIRI-JP 7 38801726 38801726 single base substitution T C intron_variant LIRI-JP 7 38801845 38801845 single base substitution C T intron_variant LIRI-JP 7 38803549 38803549 single base substitution T C intron_variant LIRI-JP 7 38804580 38804580 single base substitution C T intron_variant LIRI-JP 7 38804998 38804998 single base substitution T A intron_variant LIRI-JP 7 38806003 38806003 single base substitution T C intron_variant LIRI-JP 7 38806003 38806003 single base substitution T C upstream_gene_variant LIRI-JP 7 38810820 38810820 deletion of <=200bp T - downstream_gene_variant LIRI-JP 7 38810820 38810820 deletion of <=200bp T - frameshift_variant N363 LIRI-JP 7 38810820 38810820 deletion of <=200bp T - frameshift_variant N388 LIRI-JP 7 38810822 38810822 single base substitution T C downstream_gene_variant LIRI-JP 7 38810822 38810822 single base substitution T C synonymous_variant K362K 1086A>G LIRI-JP 7 38810822 38810822 single base substitution T C synonymous_variant K387K 1161A>G LIRI-JP 7 38811685 38811685 single base substitution T C downstream_gene_variant LIRI-JP 7 38811685 38811685 single base substitution T C intron_variant LIRI-JP 7 38816798 38816798 single base substitution G C intron_variant LIRI-JP 7 38816798 38816798 single base substitution G C upstream_gene_variant LIRI-JP 7 38816996 38816996 single base substitution G A intron_variant LIRI-JP 7 38816996 38816996 single base substitution G A upstream_gene_variant LIRI-JP 7 38821256 38821256 single base substitution G T intron_variant LIRI-JP 7 38821524 38821524 single base substitution T A intron_variant LIRI-JP 7 38821662 38821662 single base substitution G T intron_variant LIRI-JP 7 38822655 38822655 single base substitution G T intron_variant LIRI-JP 7 38822915 38822915 single base substitution T C intron_variant LIRI-JP 7 38823401 38823401 single base substitution T C intron_variant LIRI-JP 7 38833785 38833785 single base substitution A T downstream_gene_variant LIRI-JP 7 38833785 38833785 single base substitution A T intron_variant LIRI-JP 7 38835151 38835151 single base substitution T C 3_prime_UTR_variant LIRI-JP 7 38835151 38835151 single base substitution T C downstream_gene_variant LIRI-JP 7 38835151 38835151 single base substitution T C exon_variant LIRI-JP 7 38835151 38835151 single base substitution T C missense_variant I137V 409A>G LIRI-JP 7 38835151 38835151 single base substitution T C missense_variant I186V 556A>G LIRI-JP 7 38835151 38835151 single base substitution T C missense_variant I211V 631A>G LIRI-JP 7 38836234 38836234 single base substitution A G downstream_gene_variant LIRI-JP 7 38836234 38836234 single base substitution A G intron_variant LIRI-JP 7 38837612 38837612 single base substitution C A intron_variant LIRI-JP 7 38837612 38837612 single base substitution C A upstream_gene_variant LIRI-JP 7 38838005 38838005 single base substitution G C intron_variant LIRI-JP 7 38838005 38838005 single base substitution G C upstream_gene_variant LIRI-JP 7 38839834 38839834 single base substitution A G intron_variant LIRI-JP 7 38839834 38839834 single base substitution A G upstream_gene_variant LIRI-JP 7 38841009 38841009 single base substitution T C intron_variant LIRI-JP 7 38841009 38841009 single base substitution T C upstream_gene_variant LIRI-JP 7 38841259 38841262 deletion of <=200bp AACT - intron_variant LIRI-JP 7 38841259 38841262 deletion of <=200bp AACT - upstream_gene_variant LIRI-JP 7 38841641 38841641 single base substitution C A intron_variant LIRI-JP 7 38841641 38841641 single base substitution C A upstream_gene_variant LIRI-JP 7 38841642 38841642 single base substitution C T intron_variant LIRI-JP 7 38842110 38842110 single base substitution G C intron_variant LIRI-JP 7 38842980 38842980 single base substitution G T intron_variant LIRI-JP 7 38844414 38844414 single base substitution C T intron_variant LIRI-JP 7 38845189 38845190 deletion of <=200bp GA - intron_variant LIRI-JP 7 38848219 38848219 single base substitution G T intron_variant LIRI-JP 7 38848289 38848289 single base substitution C A intron_variant LIRI-JP 7 38848354 38848354 single base substitution T C intron_variant LIRI-JP 7 38849902 38849902 single base substitution A G intron_variant LIRI-JP 7 38850626 38850626 single base substitution A G intron_variant LIRI-JP 7 38850810 38850810 single base substitution C A intron_variant LIRI-JP 7 38853073 38853073 single base substitution T C downstream_gene_variant LIRI-JP 7 38853073 38853073 single base substitution T C intron_variant LIRI-JP 7 38855108 38855108 single base substitution A G downstream_gene_variant LIRI-JP 7 38855108 38855108 single base substitution A G intron_variant LIRI-JP 7 38855545 38855545 single base substitution C T downstream_gene_variant LIRI-JP 7 38855545 38855545 single base substitution C T intron_variant LIRI-JP 7 38856459 38856459 single base substitution C A downstream_gene_variant LIRI-JP 7 38856459 38856459 single base substitution C A intron_variant LIRI-JP 7 38858305 38858305 single base substitution C A downstream_gene_variant LIRI-JP 7 38858305 38858305 single base substitution C A intron_variant LIRI-JP 7 38858399 38858400 deletion of <=200bp CA - downstream_gene_variant LIRI-JP 7 38858399 38858400 deletion of <=200bp CA - intron_variant LIRI-JP 7 38858429 38858429 single base substitution T C downstream_gene_variant LIRI-JP 7 38858429 38858429 single base substitution T C intron_variant LIRI-JP 7 38860380 38860380 single base substitution T C downstream_gene_variant LIRI-JP 7 38860380 38860380 single base substitution T C intron_variant LIRI-JP 7 38860826 38860826 single base substitution C A exon_variant LIRI-JP 7 38860826 38860826 single base substitution C A stop_gained E108* 322G>T LIRI-JP 7 38860826 38860826 single base substitution C A stop_gained E121* 361G>T LIRI-JP 7 38860826 38860826 single base substitution C A stop_gained E47* 139G>T LIRI-JP 7 38860826 38860826 single base substitution C A stop_gained E71* 211G>T LIRI-JP 7 38860826 38860826 single base substitution C A stop_gained E96* 286G>T LIRI-JP 7 38860898 38860898 single base substitution T C intron_variant LIRI-JP 7 38867957 38867957 single base substitution T C intron_variant LIRI-JP 7 38868751 38868751 single base substitution A G intron_variant LIRI-JP 7 38868780 38868780 single base substitution A T intron_variant LIRI-JP 7 38872584 38872584 single base substitution C T intron_variant LIRI-JP 7 38872584 38872584 single base substitution C T upstream_gene_variant LIRI-JP 7 38874282 38874282 single base substitution A G intron_variant LIRI-JP 7 38874282 38874282 single base substitution A G upstream_gene_variant LIRI-JP 7 38875421 38875421 single base substitution C A intron_variant LIRI-JP 7 38875421 38875421 single base substitution C A upstream_gene_variant LIRI-JP 7 38878406 38878406 single base substitution T C intron_variant LIRI-JP 7 38880650 38880650 single base substitution T C intron_variant LIRI-JP 7 38882134 38882134 single base substitution A T intron_variant LIRI-JP 7 38882192 38882192 single base substitution C A intron_variant LIRI-JP 7 38884329 38884329 single base substitution T C intron_variant LIRI-JP 7 38887496 38887496 single base substitution A C intron_variant LIRI-JP 7 38888530 38888530 single base substitution A C intron_variant LIRI-JP 7 38888807 38888807 single base substitution A G intron_variant LIRI-JP 7 38891265 38891265 single base substitution A C intron_variant LIRI-JP 7 38891579 38891579 single base substitution T C intron_variant LIRI-JP 7 38891586 38891586 single base substitution A C intron_variant LIRI-JP 7 38891630 38891630 single base substitution G T intron_variant LIRI-JP 7 38891640 38891640 single base substitution T C intron_variant LIRI-JP 7 38893687 38893687 single base substitution C T intron_variant LIRI-JP 7 38898593 38898593 single base substitution C T intron_variant LIRI-JP 7 38899218 38899218 single base substitution G C intron_variant LIRI-JP 7 38899222 38899222 single base substitution A G intron_variant LIRI-JP 7 38899280 38899280 single base substitution C A intron_variant LIRI-JP 7 38899365 38899365 deletion of <=200bp T - intron_variant LIRI-JP 7 38901791 38901791 single base substitution C G intron_variant LIRI-JP 7 38902593 38902593 single base substitution C T intron_variant LIRI-JP 7 38902967 38902975 deletion of <=200bp ATTACTCAA - intron_variant LIRI-JP 7 38903331 38903331 deletion of <=200bp C - intron_variant LIRI-JP 7 38904446 38904446 single base substitution T C intron_variant LIRI-JP 7 38905695 38905695 single base substitution G A intron_variant LIRI-JP 7 38906390 38906390 single base substitution C T intron_variant LIRI-JP 7 38908758 38908758 single base substitution T G exon_variant LIRI-JP 7 38908758 38908758 single base substitution T G synonymous_variant T2T 6A>C LIRI-JP 7 38908758 38908758 single base substitution T G synonymous_variant T39T 117A>C LIRI-JP 7 38908758 38908758 single base substitution T G synonymous_variant T52T 156A>C LIRI-JP 7 38910518 38910518 single base substitution C T intron_variant LIRI-JP 7 38911671 38911671 single base substitution C T intron_variant LIRI-JP 7 38914882 38914882 single base substitution T C intron_variant LIRI-JP 7 38915132 38915132 single base substitution T A intron_variant LIRI-JP 7 38915995 38915995 single base substitution T A intron_variant LIRI-JP 7 38917105 38917105 single base substitution A G intron_variant LIRI-JP 7 38917699 38917699 single base substitution G A intron_variant LIRI-JP 7 38919325 38919325 single base substitution A G intron_variant LIRI-JP 7 38919993 38919993 single base substitution A G intron_variant LIRI-JP 7 38925329 38925329 single base substitution G A intron_variant LIRI-JP 7 38927236 38927236 single base substitution C A intron_variant LIRI-JP 7 38928121 38928121 single base substitution T C intron_variant LIRI-JP 7 38931225 38931225 single base substitution A G intron_variant LIRI-JP 7 38931311 38931311 single base substitution T C intron_variant LIRI-JP 7 38931632 38931632 single base substitution T C intron_variant LIRI-JP 7 38932106 38932106 single base substitution A G intron_variant LIRI-JP 7 38934574 38934574 single base substitution A G intron_variant LIRI-JP 7 38935889 38935889 single base substitution C T intron_variant LIRI-JP 7 38936096 38936096 single base substitution T C intron_variant LIRI-JP 7 38938218 38938218 single base substitution C T intron_variant LIRI-JP 7 38940351 38940351 single base substitution A G intron_variant LIRI-JP 7 38940480 38940480 single base substitution T C intron_variant LIRI-JP 7 38940762 38940762 single base substitution T C intron_variant LIRI-JP 7 38944302 38944302 single base substitution T C intron_variant LIRI-JP 7 38945015 38945015 single base substitution T C intron_variant LIRI-JP 7 38945216 38945216 single base substitution A C intron_variant LIRI-JP 7 38948461 38948461 deletion of <=200bp G - intron_variant LIRI-JP 7 38952497 38952497 single base substitution G A intron_variant LIRI-JP 7 38952497 38952497 single base substitution G A upstream_gene_variant LIRI-JP 7 38954607 38954607 single base substitution C T intron_variant LIRI-JP 7 38954985 38954985 single base substitution A G intron_variant LIRI-JP 7 38955713 38955713 single base substitution A G intron_variant LIRI-JP 7 38957713 38957713 single base substitution G A intron_variant LIRI-JP 7 38960390 38960390 single base substitution A G intron_variant LIRI-JP 7 38960403 38960403 single base substitution T A intron_variant LIRI-JP 7 38961099 38961099 single base substitution C A intron_variant LIRI-JP 7 38962775 38962775 single base substitution T C intron_variant LIRI-JP 7 38962798 38962798 single base substitution A G intron_variant LIRI-JP 7 38964121 38964121 single base substitution T G intron_variant LIRI-JP 7 38965018 38965018 single base substitution C T intron_variant LIRI-JP 7 38965522 38965522 single base substitution C A intron_variant LIRI-JP 7 38966771 38966771 single base substitution T A intron_variant LIRI-JP 7 38969073 38969073 single base substitution C T intron_variant LIRI-JP 7 38969073 38969073 single base substitution C T splice_region_variant LIRI-JP 7 38969788 38969788 single base substitution C A intron_variant LIRI-JP 7 38969788 38969788 single base substitution C A upstream_gene_variant LIRI-JP 7 38971412 38971412 single base substitution C G intron_variant LIRI-JP 7 38971412 38971412 single base substitution C G upstream_gene_variant LIRI-JP 7 38974378 38974378 single base substitution A G upstream_gene_variant LIRI-JP 7 38974755 38974755 single base substitution T C upstream_gene_variant LIRI-JP 7 38975110 38975110 single base substitution A G upstream_gene_variant LUSC-KR 7 38758929 38758929 single base substitution C A downstream_gene_variant LUSC-KR 7 38762725 38762725 single base substitution A T 3_prime_UTR_variant LUSC-KR 7 38762725 38762725 single base substitution A T downstream_gene_variant LUSC-KR 7 38763089 38763089 single base substitution C T 3_prime_UTR_variant LUSC-KR 7 38763089 38763089 single base substitution C T downstream_gene_variant LUSC-KR 7 38764350 38764350 single base substitution C T 3_prime_UTR_variant LUSC-KR 7 38764350 38764350 single base substitution C T downstream_gene_variant LUSC-KR 7 38764676 38764676 single base substitution C T 3_prime_UTR_variant LUSC-KR 7 38764676 38764676 single base substitution C T downstream_gene_variant LUSC-KR 7 38764904 38764904 single base substitution G T 3_prime_UTR_variant LUSC-KR 7 38764904 38764904 single base substitution G T downstream_gene_variant LUSC-KR 7 38768700 38768700 single base substitution C A intron_variant LUSC-KR 7 38768700 38768700 single base substitution C A upstream_gene_variant LUSC-KR 7 38773031 38773031 single base substitution T C intron_variant LUSC-KR 7 38773858 38773858 single base substitution G T intron_variant LUSC-KR 7 38773891 38773891 single base substitution C T intron_variant LUSC-KR 7 38779885 38779885 single base substitution G A downstream_gene_variant LUSC-KR 7 38779885 38779885 single base substitution G A intron_variant LUSC-KR 7 38781854 38781854 single base substitution T C intron_variant LUSC-KR 7 38784941 38784941 single base substitution G C intron_variant LUSC-KR 7 38785034 38785034 single base substitution G T intron_variant LUSC-KR 7 38787092 38787092 single base substitution G C intron_variant LUSC-KR 7 38787092 38787092 single base substitution G C upstream_gene_variant LUSC-KR 7 38788818 38788818 single base substitution C A intron_variant LUSC-KR 7 38788818 38788818 single base substitution C A upstream_gene_variant LUSC-KR 7 38794521 38794521 single base substitution G C downstream_gene_variant LUSC-KR 7 38794521 38794521 single base substitution G C missense_variant L546V 1636C>G LUSC-KR 7 38794521 38794521 single base substitution G C missense_variant L571V 1711C>G LUSC-KR 7 38794992 38794992 single base substitution G C downstream_gene_variant LUSC-KR 7 38794992 38794992 single base substitution G C intron_variant LUSC-KR 7 38796477 38796477 single base substitution G C downstream_gene_variant LUSC-KR 7 38796477 38796477 single base substitution G C missense_variant I527M 1581C>G LUSC-KR 7 38796477 38796477 single base substitution G C missense_variant I552M 1656C>G LUSC-KR 7 38803809 38803809 single base substitution T A intron_variant LUSC-KR 7 38805017 38805017 single base substitution C T intron_variant LUSC-KR 7 38805108 38805108 single base substitution T A intron_variant LUSC-KR 7 38808990 38808990 single base substitution G A downstream_gene_variant LUSC-KR 7 38808990 38808990 single base substitution G A intron_variant LUSC-KR 7 38808990 38808990 single base substitution G A upstream_gene_variant LUSC-KR 7 38809733 38809733 single base substitution G A downstream_gene_variant LUSC-KR 7 38809733 38809733 single base substitution G A intron_variant LUSC-KR 7 38809733 38809733 single base substitution G A upstream_gene_variant LUSC-KR 7 38814322 38814322 single base substitution G A intron_variant LUSC-KR 7 38816487 38816487 single base substitution G A intron_variant LUSC-KR 7 38816487 38816487 single base substitution G A upstream_gene_variant LUSC-KR 7 38817378 38817378 single base substitution T C intron_variant LUSC-KR 7 38817378 38817378 single base substitution T C upstream_gene_variant LUSC-KR 7 38817450 38817450 single base substitution G A intron_variant LUSC-KR 7 38817450 38817450 single base substitution G A upstream_gene_variant LUSC-KR 7 38822433 38822433 single base substitution G A intron_variant LUSC-KR 7 38830800 38830800 single base substitution C G downstream_gene_variant LUSC-KR 7 38830800 38830800 single base substitution C G intron_variant LUSC-KR 7 38834741 38834741 single base substitution C A downstream_gene_variant LUSC-KR 7 38834741 38834741 single base substitution C A intron_variant LUSC-KR 7 38837770 38837770 single base substitution C A intron_variant LUSC-KR 7 38837770 38837770 single base substitution C A upstream_gene_variant LUSC-KR 7 38837771 38837771 single base substitution C T intron_variant LUSC-KR 7 38837771 38837771 single base substitution C T upstream_gene_variant LUSC-KR 7 38839481 38839481 single base substitution G C intron_variant LUSC-KR 7 38839481 38839481 single base substitution G C upstream_gene_variant LUSC-KR 7 38856187 38856187 single base substitution C A downstream_gene_variant LUSC-KR 7 38856187 38856187 single base substitution C A intron_variant LUSC-KR 7 38857087 38857087 single base substitution G A downstream_gene_variant LUSC-KR 7 38857087 38857087 single base substitution G A intron_variant LUSC-KR 7 38859096 38859096 single base substitution T A downstream_gene_variant LUSC-KR 7 38859096 38859096 single base substitution T A intron_variant LUSC-KR 7 38860637 38860637 single base substitution T G downstream_gene_variant LUSC-KR 7 38860637 38860637 single base substitution T G intron_variant LUSC-KR 7 38861908 38861908 single base substitution C T intron_variant LUSC-KR 7 38864710 38864710 single base substitution G C intron_variant LUSC-KR 7 38867004 38867004 single base substitution T A intron_variant LUSC-KR 7 38867489 38867489 single base substitution G C intron_variant LUSC-KR 7 38875415 38875415 single base substitution T A intron_variant LUSC-KR 7 38875415 38875415 single base substitution T A upstream_gene_variant LUSC-KR 7 38877793 38877793 single base substitution C A intron_variant LUSC-KR 7 38877858 38877858 single base substitution G A intron_variant LUSC-KR 7 38878828 38878828 single base substitution A G intron_variant LUSC-KR 7 38879493 38879493 single base substitution G A intron_variant LUSC-KR 7 38880614 38880614 single base substitution T C intron_variant LUSC-KR 7 38883177 38883177 single base substitution G C intron_variant LUSC-KR 7 38883991 38883991 single base substitution C G intron_variant LUSC-KR 7 38889301 38889301 single base substitution T A intron_variant LUSC-KR 7 38892086 38892086 single base substitution C A intron_variant LUSC-KR 7 38892753 38892753 single base substitution C A intron_variant LUSC-KR 7 38899245 38899245 single base substitution G T intron_variant LUSC-KR 7 38902272 38902272 single base substitution A G intron_variant LUSC-KR 7 38907154 38907154 single base substitution A T intron_variant LUSC-KR 7 38912561 38912561 single base substitution C G intron_variant LUSC-KR 7 38918245 38918245 single base substitution C G intron_variant LUSC-KR 7 38925799 38925799 single base substitution G A intron_variant LUSC-KR 7 38926634 38926634 single base substitution C G intron_variant LUSC-KR 7 38928399 38928399 single base substitution A G intron_variant LUSC-KR 7 38928402 38928402 single base substitution A G intron_variant LUSC-KR 7 38929989 38929989 single base substitution G A intron_variant LUSC-KR 7 38934659 38934659 single base substitution C T intron_variant LUSC-KR 7 38938456 38938456 single base substitution A C intron_variant LUSC-KR 7 38939856 38939856 single base substitution C T intron_variant LUSC-KR 7 38941974 38941974 single base substitution G A intron_variant LUSC-KR 7 38948551 38948551 single base substitution C A intron_variant LUSC-KR 7 38952211 38952211 single base substitution G T intron_variant LUSC-KR 7 38952211 38952211 single base substitution G T upstream_gene_variant LUSC-KR 7 38953930 38953930 single base substitution G T intron_variant LUSC-KR 7 38953931 38953931 single base substitution G C intron_variant LUSC-KR 7 38955466 38955466 single base substitution T C intron_variant LUSC-KR 7 38955966 38955966 single base substitution G A intron_variant LUSC-KR 7 38958384 38958384 single base substitution C G intron_variant LUSC-KR 7 38958471 38958471 single base substitution G T intron_variant LUSC-KR 7 38958861 38958861 single base substitution G T intron_variant LUSC-KR 7 38959104 38959104 single base substitution A C intron_variant LUSC-KR 7 38959221 38959221 single base substitution G C intron_variant LUSC-KR 7 38959303 38959303 single base substitution A T intron_variant LUSC-KR 7 38960823 38960823 single base substitution C A intron_variant LUSC-KR 7 38963383 38963383 single base substitution C T intron_variant LUSC-KR 7 38965343 38965343 single base substitution T C intron_variant LUSC-KR 7 38966652 38966652 single base substitution C A intron_variant LUSC-KR 7 38967324 38967324 single base substitution G T intron_variant LUSC-KR 7 38969368 38969368 single base substitution G C intron_variant LUSC-KR 7 38969368 38969368 single base substitution G C upstream_gene_variant LUSC-US 7 38768321 38768321 single base substitution C T exon_variant LUSC-US 7 38768321 38768321 single base substitution C T missense_variant R752Q 2255G>A LUSC-US 7 38768321 38768321 single base substitution C T missense_variant R777Q 2330G>A LUSC-US 7 38768321 38768321 single base substitution C T upstream_gene_variant LUSC-US 7 38785213 38785213 single base substitution C A exon_variant LUSC-US 7 38785213 38785213 single base substitution C A missense_variant A618S 1852G>T LUSC-US 7 38785213 38785213 single base substitution C A missense_variant A643S 1927G>T LUSC-US 7 38785213 38785213 single base substitution C A upstream_gene_variant LUSC-US 7 38807137 38807137 single base substitution C T missense_variant R391H 1172G>A LUSC-US 7 38807137 38807137 single base substitution C T missense_variant R416H 1247G>A LUSC-US 7 38807137 38807137 single base substitution C T upstream_gene_variant LUSC-US 7 38869888 38869888 single base substitution C A exon_variant LUSC-US 7 38869888 38869888 single base substitution C A intron_variant LUSC-US 7 38869888 38869888 single base substitution C A missense_variant G22V 65G>T LUSC-US 7 38869888 38869888 single base substitution C A missense_variant G46V 137G>T LUSC-US 7 38869888 38869888 single base substitution C A missense_variant G83V 248G>T LUSC-US 7 38869888 38869888 single base substitution C A missense_variant G96V 287G>T LUSC-US 7 38908827 38908827 single base substitution C A 5_prime_UTR_variant LUSC-US 7 38908827 38908827 single base substitution C A exon_variant LUSC-US 7 38908827 38908827 single base substitution C A missense_variant K16N 48G>T LUSC-US 7 38908827 38908827 single base substitution C A missense_variant K29N 87G>T LUSC-US 7 38937702 38937702 single base substitution C G 5_prime_UTR_variant LUSC-US 7 38937702 38937702 single base substitution C G exon_variant LUSC-US 7 38937702 38937702 single base substitution C G intron_variant LUSC-US 7 38937702 38937702 single base substitution C G missense_variant D17H 49G>C MALY-DE 7 38761855 38761857 deletion of <=200bp TAG - downstream_gene_variant MALY-DE 7 38769304 38769304 single base substitution T C intron_variant MALY-DE 7 38769304 38769304 single base substitution T C upstream_gene_variant MALY-DE 7 38773319 38773319 single base substitution T G intron_variant MALY-DE 7 38789277 38789277 single base substitution G A intron_variant MALY-DE 7 38789277 38789277 single base substitution G A upstream_gene_variant MALY-DE 7 38791870 38791870 single base substitution C T missense_variant R586H 1757G>A MALY-DE 7 38791870 38791870 single base substitution C T missense_variant R611H 1832G>A MALY-DE 7 38792056 38792056 single base substitution G A intron_variant MALY-DE 7 38795353 38795353 single base substitution T G downstream_gene_variant MALY-DE 7 38795353 38795353 single base substitution T G intron_variant MALY-DE 7 38795369 38795369 single base substitution A G downstream_gene_variant MALY-DE 7 38795369 38795369 single base substitution A G intron_variant MALY-DE 7 38810890 38810890 single base substitution A G downstream_gene_variant MALY-DE 7 38810890 38810890 single base substitution A G intron_variant MALY-DE 7 38813459 38813459 single base substitution A T downstream_gene_variant MALY-DE 7 38813459 38813459 single base substitution A T intron_variant MALY-DE 7 38816338 38816338 single base substitution C T exon_variant MALY-DE 7 38816338 38816338 single base substitution C T missense_variant A250T 748G>A MALY-DE 7 38816338 38816338 single base substitution C T missense_variant A275T 823G>A MALY-DE 7 38816338 38816338 single base substitution C T upstream_gene_variant MALY-DE 7 38816356 38816356 single base substitution A G exon_variant MALY-DE 7 38816356 38816356 single base substitution A G missense_variant F244L 730T>C MALY-DE 7 38816356 38816356 single base substitution A G missense_variant F269L 805T>C MALY-DE 7 38816356 38816356 single base substitution A G upstream_gene_variant MALY-DE 7 38816748 38816748 single base substitution A T intron_variant MALY-DE 7 38816748 38816748 single base substitution A T upstream_gene_variant MALY-DE 7 38819419 38819419 insertion of <=200bp - A intron_variant MALY-DE 7 38819419 38819419 insertion of <=200bp - A upstream_gene_variant MALY-DE 7 38819552 38819552 single base substitution T G intron_variant MALY-DE 7 38819552 38819552 single base substitution T G upstream_gene_variant MALY-DE 7 38823083 38823083 single base substitution G A intron_variant MALY-DE 7 38833801 38833801 single base substitution T C downstream_gene_variant MALY-DE 7 38833801 38833801 single base substitution T C intron_variant MALY-DE 7 38835877 38835877 single base substitution A C downstream_gene_variant MALY-DE 7 38835877 38835877 single base substitution A C intron_variant MALY-DE 7 38844993 38844993 single base substitution C T intron_variant MALY-DE 7 38863763 38863763 single base substitution C A intron_variant MALY-DE 7 38871939 38871939 single base substitution G A intron_variant MALY-DE 7 38871939 38871939 single base substitution G A upstream_gene_variant MALY-DE 7 38876893 38876893 single base substitution G T intron_variant MALY-DE 7 38886645 38886645 single base substitution C A intron_variant MALY-DE 7 38889104 38889104 single base substitution C T intron_variant MALY-DE 7 38892738 38892738 single base substitution G A intron_variant MALY-DE 7 38895898 38895898 single base substitution C T intron_variant MALY-DE 7 38898719 38898719 insertion of <=200bp - A intron_variant MALY-DE 7 38914455 38914455 single base substitution G A intron_variant MALY-DE 7 38916460 38916460 single base substitution C T intron_variant MALY-DE 7 38917814 38917814 deletion of <=200bp A - intron_variant MALY-DE 7 38921881 38921881 single base substitution C T intron_variant MALY-DE 7 38923468 38923468 single base substitution A G intron_variant MALY-DE 7 38931761 38931761 deletion of <=200bp T - intron_variant MALY-DE 7 38933963 38933963 single base substitution G A intron_variant MALY-DE 7 38937646 38937646 single base substitution A C intron_variant MALY-DE 7 38939472 38939472 insertion of <=200bp - T intron_variant MALY-DE 7 38947667 38947667 single base substitution G A intron_variant MALY-DE 7 38947676 38947676 single base substitution T A intron_variant MALY-DE 7 38950047 38950047 insertion of <=200bp - TCC intron_variant MALY-DE 7 38950047 38950047 insertion of <=200bp - TCC upstream_gene_variant MALY-DE 7 38950056 38950056 single base substitution G C intron_variant MALY-DE 7 38950056 38950056 single base substitution G C upstream_gene_variant MALY-DE 7 38950061 38950066 deletion of <=200bp TGAGAC - intron_variant MALY-DE 7 38950061 38950066 deletion of <=200bp TGAGAC - upstream_gene_variant MALY-DE 7 38953478 38953478 single base substitution A G intron_variant MALY-DE 7 38953478 38953478 single base substitution A G upstream_gene_variant MALY-DE 7 38958855 38958855 insertion of <=200bp - A intron_variant MALY-DE 7 38959589 38959589 single base substitution G T intron_variant MALY-DE 7 38960896 38960896 single base substitution C T intron_variant MALY-DE 7 38964622 38964622 single base substitution G A intron_variant MALY-DE 7 38965993 38965993 single base substitution G C intron_variant MALY-DE 7 38966196 38966196 single base substitution T A intron_variant MALY-DE 7 38973500 38973500 single base substitution C G upstream_gene_variant MALY-DE 7 38973785 38973785 single base substitution A C upstream_gene_variant MALY-DE 7 38974387 38974388 deletion of <=200bp CA - upstream_gene_variant MELA-AU 7 38757944 38757944 single base substitution C T downstream_gene_variant MELA-AU 7 38757975 38757975 single base substitution G A downstream_gene_variant MELA-AU 7 38758074 38758074 single base substitution G A downstream_gene_variant MELA-AU 7 38758592 38758593 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 38758629 38758629 single base substitution G A downstream_gene_variant MELA-AU 7 38758753 38758753 single base substitution A T downstream_gene_variant MELA-AU 7 38759563 38759563 single base substitution G A downstream_gene_variant MELA-AU 7 38759869 38759869 single base substitution G A downstream_gene_variant MELA-AU 7 38760633 38760633 single base substitution G A downstream_gene_variant MELA-AU 7 38761129 38761130 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 38761362 38761362 single base substitution G A downstream_gene_variant MELA-AU 7 38761850 38761850 single base substitution G A downstream_gene_variant MELA-AU 7 38762654 38762654 single base substitution G A 3_prime_UTR_variant MELA-AU 7 38762654 38762654 single base substitution G A downstream_gene_variant MELA-AU 7 38762772 38762772 single base substitution C T 3_prime_UTR_variant MELA-AU 7 38762772 38762772 single base substitution C T downstream_gene_variant MELA-AU 7 38763401 38763401 single base substitution G A 3_prime_UTR_variant MELA-AU 7 38763401 38763401 single base substitution G A downstream_gene_variant MELA-AU 7 38763403 38763403 single base substitution G A 3_prime_UTR_variant MELA-AU 7 38763403 38763403 single base substitution G A downstream_gene_variant MELA-AU 7 38763404 38763404 single base substitution G A 3_prime_UTR_variant MELA-AU 7 38763404 38763404 single base substitution G A downstream_gene_variant MELA-AU 7 38763477 38763477 single base substitution G A 3_prime_UTR_variant MELA-AU 7 38763477 38763477 single base substitution G A downstream_gene_variant MELA-AU 7 38763702 38763702 single base substitution A G 3_prime_UTR_variant MELA-AU 7 38763702 38763702 single base substitution A G downstream_gene_variant MELA-AU 7 38763789 38763789 single base substitution A G 3_prime_UTR_variant MELA-AU 7 38763789 38763789 single base substitution A G downstream_gene_variant MELA-AU 7 38764624 38764624 single base substitution G A 3_prime_UTR_variant MELA-AU 7 38764624 38764624 single base substitution G A downstream_gene_variant MELA-AU 7 38764643 38764643 single base substitution G A 3_prime_UTR_variant MELA-AU 7 38764643 38764643 single base substitution G A downstream_gene_variant MELA-AU 7 38764945 38764945 single base substitution G A 3_prime_UTR_variant MELA-AU 7 38764945 38764945 single base substitution G A downstream_gene_variant MELA-AU 7 38765268 38765268 single base substitution G A 3_prime_UTR_variant MELA-AU 7 38765268 38765268 single base substitution G A downstream_gene_variant MELA-AU 7 38765550 38765550 single base substitution A T 3_prime_UTR_variant MELA-AU 7 38765550 38765550 single base substitution A T downstream_gene_variant MELA-AU 7 38765710 38765710 single base substitution G A 3_prime_UTR_variant MELA-AU 7 38765710 38765710 single base substitution G A downstream_gene_variant MELA-AU 7 38765710 38765710 single base substitution G A exon_variant MELA-AU 7 38766441 38766441 single base substitution G A intron_variant MELA-AU 7 38767280 38767281 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 7 38767280 38767281 multiple base substitution (>=2bp and <=200bp) AG TA upstream_gene_variant MELA-AU 7 38767586 38767586 single base substitution G A intron_variant MELA-AU 7 38767586 38767586 single base substitution G A upstream_gene_variant MELA-AU 7 38767881 38767881 single base substitution G A intron_variant MELA-AU 7 38767881 38767881 single base substitution G A upstream_gene_variant MELA-AU 7 38768137 38768137 single base substitution C G splice_region_variant MELA-AU 7 38768137 38768137 single base substitution C G upstream_gene_variant MELA-AU 7 38768289 38768289 single base substitution C A splice_region_variant MELA-AU 7 38768289 38768289 single base substitution C A upstream_gene_variant MELA-AU 7 38769327 38769327 single base substitution G A intron_variant MELA-AU 7 38769327 38769327 single base substitution G A upstream_gene_variant MELA-AU 7 38769936 38769936 single base substitution G A intron_variant MELA-AU 7 38769936 38769936 single base substitution G A upstream_gene_variant MELA-AU 7 38770268 38770268 single base substitution G A intron_variant MELA-AU 7 38770268 38770268 single base substitution G A upstream_gene_variant MELA-AU 7 38770363 38770363 single base substitution G A intron_variant MELA-AU 7 38770363 38770363 single base substitution G A upstream_gene_variant MELA-AU 7 38771295 38771295 single base substitution G A intron_variant MELA-AU 7 38771295 38771295 single base substitution G A upstream_gene_variant MELA-AU 7 38771648 38771648 single base substitution G A intron_variant MELA-AU 7 38771648 38771648 single base substitution G A upstream_gene_variant MELA-AU 7 38771914 38771914 single base substitution G A intron_variant MELA-AU 7 38773034 38773034 single base substitution G A intron_variant MELA-AU 7 38773309 38773309 single base substitution G T intron_variant MELA-AU 7 38773799 38773799 single base substitution G A intron_variant MELA-AU 7 38774292 38774292 single base substitution G A intron_variant MELA-AU 7 38774615 38774615 single base substitution T G intron_variant MELA-AU 7 38774938 38774938 single base substitution C T intron_variant MELA-AU 7 38774975 38774975 single base substitution G A intron_variant MELA-AU 7 38774991 38774991 single base substitution G A intron_variant MELA-AU 7 38775031 38775031 single base substitution A C intron_variant MELA-AU 7 38775565 38775565 single base substitution T C intron_variant MELA-AU 7 38775597 38775597 single base substitution G A intron_variant MELA-AU 7 38775757 38775757 single base substitution A G intron_variant MELA-AU 7 38775869 38775869 single base substitution G A intron_variant MELA-AU 7 38776162 38776162 single base substitution T A downstream_gene_variant MELA-AU 7 38776162 38776162 single base substitution T A intron_variant MELA-AU 7 38776611 38776611 single base substitution G A downstream_gene_variant MELA-AU 7 38776611 38776611 single base substitution G A intron_variant MELA-AU 7 38776954 38776954 single base substitution G A downstream_gene_variant MELA-AU 7 38776954 38776954 single base substitution G A intron_variant MELA-AU 7 38777807 38777807 single base substitution C T downstream_gene_variant MELA-AU 7 38777807 38777807 single base substitution C T intron_variant MELA-AU 7 38778481 38778481 single base substitution T C downstream_gene_variant MELA-AU 7 38778481 38778481 single base substitution T C intron_variant MELA-AU 7 38778790 38778790 single base substitution G A downstream_gene_variant MELA-AU 7 38778790 38778790 single base substitution G A intron_variant MELA-AU 7 38778886 38778886 single base substitution G A downstream_gene_variant MELA-AU 7 38778886 38778886 single base substitution G A intron_variant MELA-AU 7 38779196 38779196 single base substitution G A downstream_gene_variant MELA-AU 7 38779196 38779196 single base substitution G A intron_variant MELA-AU 7 38779659 38779659 single base substitution G A downstream_gene_variant MELA-AU 7 38779659 38779659 single base substitution G A intron_variant MELA-AU 7 38779833 38779833 single base substitution G A downstream_gene_variant MELA-AU 7 38779833 38779833 single base substitution G A intron_variant MELA-AU 7 38780232 38780232 single base substitution G A downstream_gene_variant MELA-AU 7 38780232 38780232 single base substitution G A intron_variant MELA-AU 7 38780904 38780904 single base substitution T C 3_prime_UTR_variant MELA-AU 7 38780904 38780904 single base substitution T C intron_variant MELA-AU 7 38780975 38780975 single base substitution T C intron_variant MELA-AU 7 38781203 38781203 single base substitution G A intron_variant MELA-AU 7 38781575 38781575 single base substitution G A intron_variant MELA-AU 7 38781575 38781575 single base substitution G A splice_region_variant MELA-AU 7 38781639 38781639 single base substitution C T exon_variant MELA-AU 7 38781639 38781639 single base substitution C T synonymous_variant E710E 2130G>A MELA-AU 7 38781639 38781639 single base substitution C T synonymous_variant E735E 2205G>A MELA-AU 7 38781639 38781639 single base substitution C T synonymous_variant E76E 228G>A MELA-AU 7 38782274 38782274 single base substitution G A intron_variant MELA-AU 7 38782334 38782334 single base substitution C A intron_variant MELA-AU 7 38783064 38783064 single base substitution G A exon_variant MELA-AU 7 38783064 38783064 single base substitution G A missense_variant A28V 83C>T MELA-AU 7 38783064 38783064 single base substitution G A missense_variant A662V 1985C>T MELA-AU 7 38783064 38783064 single base substitution G A missense_variant A687V 2060C>T MELA-AU 7 38783140 38783140 single base substitution G A splice_region_variant MELA-AU 7 38783140 38783140 single base substitution G A stop_gained R3* 7C>T MELA-AU 7 38783140 38783140 single base substitution G A stop_gained R637* 1909C>T MELA-AU 7 38783140 38783140 single base substitution G A stop_gained R662* 1984C>T MELA-AU 7 38783161 38783161 single base substitution G A intron_variant MELA-AU 7 38783621 38783621 single base substitution G A intron_variant MELA-AU 7 38784123 38784123 single base substitution G A intron_variant MELA-AU 7 38784304 38784304 single base substitution A G intron_variant MELA-AU 7 38784615 38784615 single base substitution T C intron_variant MELA-AU 7 38784954 38784954 single base substitution C A intron_variant MELA-AU 7 38785230 38785230 single base substitution G A exon_variant MELA-AU 7 38785230 38785230 single base substitution G A intron_variant MELA-AU 7 38785230 38785230 single base substitution G A upstream_gene_variant MELA-AU 7 38785462 38785462 single base substitution G A exon_variant MELA-AU 7 38785462 38785462 single base substitution G A intron_variant MELA-AU 7 38785462 38785462 single base substitution G A upstream_gene_variant MELA-AU 7 38785819 38785820 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 7 38785819 38785820 multiple base substitution (>=2bp and <=200bp) GG CA upstream_gene_variant MELA-AU 7 38786043 38786043 single base substitution G A intron_variant MELA-AU 7 38786043 38786043 single base substitution G A upstream_gene_variant MELA-AU 7 38786852 38786852 single base substitution T A intron_variant MELA-AU 7 38786852 38786852 single base substitution T A upstream_gene_variant MELA-AU 7 38787394 38787394 single base substitution G A intron_variant MELA-AU 7 38787394 38787394 single base substitution G A upstream_gene_variant MELA-AU 7 38787775 38787775 single base substitution G A intron_variant MELA-AU 7 38787775 38787775 single base substitution G A upstream_gene_variant MELA-AU 7 38788227 38788227 single base substitution G A intron_variant MELA-AU 7 38788227 38788227 single base substitution G A upstream_gene_variant MELA-AU 7 38788391 38788391 single base substitution A G intron_variant MELA-AU 7 38788391 38788391 single base substitution A G upstream_gene_variant MELA-AU 7 38788932 38788932 single base substitution T G intron_variant MELA-AU 7 38788932 38788932 single base substitution T G upstream_gene_variant MELA-AU 7 38789206 38789206 single base substitution G A intron_variant MELA-AU 7 38789206 38789206 single base substitution G A upstream_gene_variant MELA-AU 7 38789457 38789458 multiple base substitution (>=2bp and <=200bp) TC AA intron_variant MELA-AU 7 38789457 38789458 multiple base substitution (>=2bp and <=200bp) TC AA upstream_gene_variant MELA-AU 7 38789930 38789930 single base substitution G A intron_variant MELA-AU 7 38789930 38789930 single base substitution G A upstream_gene_variant MELA-AU 7 38790359 38790359 single base substitution G A intron_variant MELA-AU 7 38790359 38790359 single base substitution G A upstream_gene_variant MELA-AU 7 38790876 38790876 single base substitution C A intron_variant MELA-AU 7 38791061 38791061 single base substitution G A intron_variant MELA-AU 7 38791331 38791331 single base substitution G A intron_variant MELA-AU 7 38791433 38791433 single base substitution G A intron_variant MELA-AU 7 38792036 38792036 single base substitution G A intron_variant MELA-AU 7 38792107 38792107 single base substitution T C intron_variant MELA-AU 7 38792348 38792348 single base substitution G A intron_variant MELA-AU 7 38792758 38792758 single base substitution G A intron_variant MELA-AU 7 38793562 38793562 single base substitution C G downstream_gene_variant MELA-AU 7 38793562 38793562 single base substitution C G intron_variant MELA-AU 7 38794210 38794210 single base substitution A G downstream_gene_variant MELA-AU 7 38794210 38794210 single base substitution A G intron_variant MELA-AU 7 38794282 38794282 single base substitution G A downstream_gene_variant MELA-AU 7 38794282 38794282 single base substitution G A intron_variant MELA-AU 7 38794365 38794365 single base substitution G A downstream_gene_variant MELA-AU 7 38794365 38794365 single base substitution G A intron_variant MELA-AU 7 38794686 38794686 single base substitution G A downstream_gene_variant MELA-AU 7 38794686 38794686 single base substitution G A intron_variant MELA-AU 7 38794839 38794839 single base substitution G A downstream_gene_variant MELA-AU 7 38794839 38794839 single base substitution G A intron_variant MELA-AU 7 38794936 38794936 single base substitution A G downstream_gene_variant MELA-AU 7 38794936 38794936 single base substitution A G intron_variant MELA-AU 7 38794981 38794981 single base substitution G A downstream_gene_variant MELA-AU 7 38794981 38794981 single base substitution G A intron_variant MELA-AU 7 38795045 38795045 single base substitution C T downstream_gene_variant MELA-AU 7 38795045 38795045 single base substitution C T intron_variant MELA-AU 7 38795325 38795325 single base substitution T C downstream_gene_variant MELA-AU 7 38795325 38795325 single base substitution T C intron_variant MELA-AU 7 38795395 38795395 single base substitution G A downstream_gene_variant MELA-AU 7 38795395 38795395 single base substitution G A intron_variant MELA-AU 7 38795699 38795700 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 38795699 38795700 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38796768 38796768 single base substitution C G downstream_gene_variant MELA-AU 7 38796768 38796768 single base substitution C G intron_variant MELA-AU 7 38797252 38797252 single base substitution G A downstream_gene_variant MELA-AU 7 38797252 38797252 single base substitution G A intron_variant MELA-AU 7 38797282 38797282 single base substitution G A downstream_gene_variant MELA-AU 7 38797282 38797282 single base substitution G A intron_variant MELA-AU 7 38797876 38797877 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 38797876 38797877 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38797927 38797927 single base substitution G A downstream_gene_variant MELA-AU 7 38797927 38797927 single base substitution G A intron_variant MELA-AU 7 38798733 38798733 single base substitution G A intron_variant MELA-AU 7 38799582 38799582 single base substitution C T intron_variant MELA-AU 7 38799613 38799613 single base substitution C T intron_variant MELA-AU 7 38799670 38799670 single base substitution C T intron_variant MELA-AU 7 38799773 38799773 single base substitution A T intron_variant MELA-AU 7 38800287 38800287 single base substitution C A intron_variant MELA-AU 7 38800776 38800776 single base substitution C T intron_variant MELA-AU 7 38801074 38801074 single base substitution G A intron_variant MELA-AU 7 38802257 38802257 single base substitution A T intron_variant MELA-AU 7 38802535 38802535 single base substitution G A intron_variant MELA-AU 7 38803163 38803163 single base substitution G A intron_variant MELA-AU 7 38803673 38803673 single base substitution T C intron_variant MELA-AU 7 38804014 38804014 single base substitution G A intron_variant MELA-AU 7 38804193 38804193 single base substitution G A intron_variant MELA-AU 7 38804266 38804266 single base substitution G A intron_variant MELA-AU 7 38804382 38804382 single base substitution G A intron_variant MELA-AU 7 38804757 38804757 single base substitution A G intron_variant MELA-AU 7 38804813 38804813 single base substitution A G intron_variant MELA-AU 7 38805006 38805006 single base substitution T G intron_variant MELA-AU 7 38805094 38805094 single base substitution G A intron_variant MELA-AU 7 38805991 38805991 single base substitution G A intron_variant MELA-AU 7 38805991 38805991 single base substitution G A upstream_gene_variant MELA-AU 7 38806404 38806404 single base substitution G A intron_variant MELA-AU 7 38806404 38806404 single base substitution G A upstream_gene_variant MELA-AU 7 38806844 38806844 single base substitution G A intron_variant MELA-AU 7 38806844 38806844 single base substitution G A upstream_gene_variant MELA-AU 7 38807348 38807348 single base substitution A C downstream_gene_variant MELA-AU 7 38807348 38807348 single base substitution A C intron_variant MELA-AU 7 38807348 38807348 single base substitution A C upstream_gene_variant MELA-AU 7 38807366 38807366 single base substitution T A downstream_gene_variant MELA-AU 7 38807366 38807366 single base substitution T A intron_variant MELA-AU 7 38807366 38807366 single base substitution T A upstream_gene_variant MELA-AU 7 38808068 38808068 single base substitution G A downstream_gene_variant MELA-AU 7 38808068 38808068 single base substitution G A intron_variant MELA-AU 7 38808068 38808068 single base substitution G A upstream_gene_variant MELA-AU 7 38808446 38808446 single base substitution C T downstream_gene_variant MELA-AU 7 38808446 38808446 single base substitution C T intron_variant MELA-AU 7 38808446 38808446 single base substitution C T upstream_gene_variant MELA-AU 7 38809029 38809029 single base substitution G C downstream_gene_variant MELA-AU 7 38809029 38809029 single base substitution G C intron_variant MELA-AU 7 38809029 38809029 single base substitution G C upstream_gene_variant MELA-AU 7 38809468 38809468 single base substitution G A downstream_gene_variant MELA-AU 7 38809468 38809468 single base substitution G A intron_variant MELA-AU 7 38809468 38809468 single base substitution G A upstream_gene_variant MELA-AU 7 38809536 38809536 single base substitution G A downstream_gene_variant MELA-AU 7 38809536 38809536 single base substitution G A intron_variant MELA-AU 7 38809536 38809536 single base substitution G A upstream_gene_variant MELA-AU 7 38809846 38809846 single base substitution G A downstream_gene_variant MELA-AU 7 38809846 38809846 single base substitution G A intron_variant MELA-AU 7 38809846 38809846 single base substitution G A upstream_gene_variant MELA-AU 7 38810847 38810847 single base substitution A G downstream_gene_variant MELA-AU 7 38810847 38810847 single base substitution A G missense_variant L354S 1061T>C MELA-AU 7 38810847 38810847 single base substitution A G missense_variant L379S 1136T>C MELA-AU 7 38811491 38811491 single base substitution G A downstream_gene_variant MELA-AU 7 38811491 38811491 single base substitution G A intron_variant MELA-AU 7 38811592 38811592 single base substitution A G downstream_gene_variant MELA-AU 7 38811592 38811592 single base substitution A G intron_variant MELA-AU 7 38811787 38811787 single base substitution G A downstream_gene_variant MELA-AU 7 38811787 38811787 single base substitution G A intron_variant MELA-AU 7 38812502 38812502 single base substitution G A downstream_gene_variant MELA-AU 7 38812502 38812502 single base substitution G A intron_variant MELA-AU 7 38812626 38812626 single base substitution G A downstream_gene_variant MELA-AU 7 38812626 38812626 single base substitution G A intron_variant MELA-AU 7 38812871 38812872 multiple base substitution (>=2bp and <=200bp) CT TC downstream_gene_variant MELA-AU 7 38812871 38812872 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 7 38813152 38813152 single base substitution G A downstream_gene_variant MELA-AU 7 38813152 38813152 single base substitution G A intron_variant MELA-AU 7 38813352 38813352 single base substitution G A downstream_gene_variant MELA-AU 7 38813352 38813352 single base substitution G A intron_variant MELA-AU 7 38813394 38813394 single base substitution G A downstream_gene_variant MELA-AU 7 38813394 38813394 single base substitution G A intron_variant MELA-AU 7 38813446 38813446 single base substitution A T downstream_gene_variant MELA-AU 7 38813446 38813446 single base substitution A T intron_variant MELA-AU 7 38813678 38813678 deletion of <=200bp A - downstream_gene_variant MELA-AU 7 38813678 38813678 deletion of <=200bp A - intron_variant MELA-AU 7 38813822 38813822 single base substitution G A exon_variant MELA-AU 7 38813822 38813822 single base substitution G A missense_variant P277L 830C>T MELA-AU 7 38813822 38813822 single base substitution G A missense_variant P302L 905C>T MELA-AU 7 38813952 38813952 single base substitution G A intron_variant MELA-AU 7 38813981 38813981 single base substitution G A intron_variant MELA-AU 7 38814149 38814149 single base substitution G A intron_variant MELA-AU 7 38814577 38814577 single base substitution G A intron_variant MELA-AU 7 38814934 38814934 single base substitution G A exon_variant MELA-AU 7 38814934 38814934 single base substitution G A intron_variant MELA-AU 7 38815353 38815353 single base substitution A G intron_variant MELA-AU 7 38815353 38815353 single base substitution A G upstream_gene_variant MELA-AU 7 38816049 38816049 single base substitution G A intron_variant MELA-AU 7 38816049 38816049 single base substitution G A upstream_gene_variant MELA-AU 7 38816075 38816075 single base substitution G T intron_variant MELA-AU 7 38816075 38816075 single base substitution G T upstream_gene_variant MELA-AU 7 38816348 38816348 single base substitution G A exon_variant MELA-AU 7 38816348 38816348 single base substitution G A synonymous_variant I246I 738C>T MELA-AU 7 38816348 38816348 single base substitution G A synonymous_variant I271I 813C>T MELA-AU 7 38816348 38816348 single base substitution G A upstream_gene_variant MELA-AU 7 38816519 38816519 single base substitution A C intron_variant MELA-AU 7 38816519 38816519 single base substitution A C upstream_gene_variant MELA-AU 7 38816697 38816697 single base substitution A T intron_variant MELA-AU 7 38816697 38816697 single base substitution A T upstream_gene_variant MELA-AU 7 38817094 38817094 single base substitution G A intron_variant MELA-AU 7 38817094 38817094 single base substitution G A upstream_gene_variant MELA-AU 7 38817415 38817415 single base substitution G A intron_variant MELA-AU 7 38817415 38817415 single base substitution G A upstream_gene_variant MELA-AU 7 38817791 38817791 single base substitution G A intron_variant MELA-AU 7 38817791 38817791 single base substitution G A upstream_gene_variant MELA-AU 7 38817879 38817879 single base substitution G A intron_variant MELA-AU 7 38817879 38817879 single base substitution G A upstream_gene_variant MELA-AU 7 38818335 38818335 single base substitution G A intron_variant MELA-AU 7 38818335 38818335 single base substitution G A upstream_gene_variant MELA-AU 7 38819014 38819014 single base substitution G A intron_variant MELA-AU 7 38819014 38819014 single base substitution G A upstream_gene_variant MELA-AU 7 38819110 38819110 single base substitution G A intron_variant MELA-AU 7 38819110 38819110 single base substitution G A upstream_gene_variant MELA-AU 7 38819361 38819361 single base substitution G A intron_variant MELA-AU 7 38819361 38819361 single base substitution G A upstream_gene_variant MELA-AU 7 38819739 38819739 single base substitution G A intron_variant MELA-AU 7 38819739 38819739 single base substitution G A upstream_gene_variant MELA-AU 7 38819869 38819869 single base substitution G A intron_variant MELA-AU 7 38819869 38819869 single base substitution G A upstream_gene_variant MELA-AU 7 38819957 38819957 single base substitution G A intron_variant MELA-AU 7 38819957 38819957 single base substitution G A upstream_gene_variant MELA-AU 7 38820246 38820246 single base substitution G A intron_variant MELA-AU 7 38820246 38820246 single base substitution G A upstream_gene_variant MELA-AU 7 38820743 38820743 single base substitution G A intron_variant MELA-AU 7 38821258 38821258 single base substitution G A intron_variant MELA-AU 7 38821359 38821359 single base substitution G A intron_variant MELA-AU 7 38821660 38821660 single base substitution C T intron_variant MELA-AU 7 38822143 38822143 single base substitution G A intron_variant MELA-AU 7 38823044 38823044 single base substitution G A intron_variant MELA-AU 7 38823110 38823110 single base substitution G T intron_variant MELA-AU 7 38823183 38823183 single base substitution G A intron_variant MELA-AU 7 38824152 38824152 single base substitution T C intron_variant MELA-AU 7 38824249 38824249 single base substitution G A intron_variant MELA-AU 7 38826404 38826404 single base substitution G A intron_variant MELA-AU 7 38826424 38826424 single base substitution C A intron_variant MELA-AU 7 38827605 38827605 single base substitution A G intron_variant MELA-AU 7 38828325 38828325 single base substitution T G intron_variant MELA-AU 7 38829391 38829391 single base substitution G A intron_variant MELA-AU 7 38829460 38829460 single base substitution G A exon_variant MELA-AU 7 38829460 38829460 single base substitution G A missense_variant S217L 650C>T MELA-AU 7 38829460 38829460 single base substitution G A missense_variant S242L 725C>T MELA-AU 7 38829471 38829471 single base substitution G A splice_region_variant MELA-AU 7 38829752 38829752 single base substitution G T intron_variant MELA-AU 7 38830099 38830099 single base substitution G A downstream_gene_variant MELA-AU 7 38830099 38830099 single base substitution G A intron_variant MELA-AU 7 38830409 38830409 single base substitution T C downstream_gene_variant MELA-AU 7 38830409 38830409 single base substitution T C intron_variant MELA-AU 7 38830785 38830785 single base substitution C T downstream_gene_variant MELA-AU 7 38830785 38830785 single base substitution C T intron_variant MELA-AU 7 38831287 38831287 single base substitution G A downstream_gene_variant MELA-AU 7 38831287 38831287 single base substitution G A intron_variant MELA-AU 7 38831377 38831377 single base substitution G A downstream_gene_variant MELA-AU 7 38831377 38831377 single base substitution G A intron_variant MELA-AU 7 38831715 38831715 single base substitution G A downstream_gene_variant MELA-AU 7 38831715 38831715 single base substitution G A intron_variant MELA-AU 7 38832027 38832027 single base substitution C T downstream_gene_variant MELA-AU 7 38832027 38832027 single base substitution C T intron_variant MELA-AU 7 38832795 38832795 single base substitution G A downstream_gene_variant MELA-AU 7 38832795 38832795 single base substitution G A intron_variant MELA-AU 7 38833534 38833534 single base substitution A G downstream_gene_variant MELA-AU 7 38833534 38833534 single base substitution A G intron_variant MELA-AU 7 38833757 38833757 single base substitution A C downstream_gene_variant MELA-AU 7 38833757 38833757 single base substitution A C intron_variant MELA-AU 7 38833919 38833919 single base substitution T C downstream_gene_variant MELA-AU 7 38833919 38833919 single base substitution T C intron_variant MELA-AU 7 38834257 38834257 single base substitution C T downstream_gene_variant MELA-AU 7 38834257 38834257 single base substitution C T intron_variant MELA-AU 7 38834905 38834905 single base substitution T G downstream_gene_variant MELA-AU 7 38834905 38834905 single base substitution T G intron_variant MELA-AU 7 38837560 38837560 single base substitution C T intron_variant MELA-AU 7 38837560 38837560 single base substitution C T upstream_gene_variant MELA-AU 7 38837788 38837788 single base substitution G A intron_variant MELA-AU 7 38837788 38837788 single base substitution G A upstream_gene_variant MELA-AU 7 38838221 38838221 single base substitution G C intron_variant MELA-AU 7 38838221 38838221 single base substitution G C upstream_gene_variant MELA-AU 7 38838275 38838275 single base substitution G A intron_variant MELA-AU 7 38838275 38838275 single base substitution G A upstream_gene_variant MELA-AU 7 38838358 38838358 single base substitution G A intron_variant MELA-AU 7 38838358 38838358 single base substitution G A upstream_gene_variant MELA-AU 7 38838359 38838359 single base substitution G T intron_variant MELA-AU 7 38838359 38838359 single base substitution G T upstream_gene_variant MELA-AU 7 38838561 38838561 single base substitution G A intron_variant MELA-AU 7 38838561 38838561 single base substitution G A upstream_gene_variant MELA-AU 7 38838579 38838579 single base substitution G C intron_variant MELA-AU 7 38838579 38838579 single base substitution G C upstream_gene_variant MELA-AU 7 38838660 38838660 single base substitution G A intron_variant MELA-AU 7 38838660 38838660 single base substitution G A upstream_gene_variant MELA-AU 7 38838919 38838919 single base substitution G T intron_variant MELA-AU 7 38838919 38838919 single base substitution G T upstream_gene_variant MELA-AU 7 38838921 38838921 single base substitution G A intron_variant MELA-AU 7 38838921 38838921 single base substitution G A upstream_gene_variant MELA-AU 7 38838927 38838927 single base substitution G A intron_variant MELA-AU 7 38838927 38838927 single base substitution G A upstream_gene_variant MELA-AU 7 38839150 38839150 single base substitution G A intron_variant MELA-AU 7 38839150 38839150 single base substitution G A upstream_gene_variant MELA-AU 7 38839297 38839297 single base substitution A C intron_variant MELA-AU 7 38839297 38839297 single base substitution A C upstream_gene_variant MELA-AU 7 38839376 38839376 single base substitution G A intron_variant MELA-AU 7 38839376 38839376 single base substitution G A upstream_gene_variant MELA-AU 7 38839474 38839474 single base substitution T A intron_variant MELA-AU 7 38839474 38839474 single base substitution T A upstream_gene_variant MELA-AU 7 38840102 38840103 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 7 38840102 38840103 multiple base substitution (>=2bp and <=200bp) AG GA upstream_gene_variant MELA-AU 7 38840200 38840200 single base substitution G A intron_variant MELA-AU 7 38840200 38840200 single base substitution G A upstream_gene_variant MELA-AU 7 38840404 38840404 single base substitution C T intron_variant MELA-AU 7 38840404 38840404 single base substitution C T upstream_gene_variant MELA-AU 7 38840762 38840762 single base substitution G A intron_variant MELA-AU 7 38840762 38840762 single base substitution G A upstream_gene_variant MELA-AU 7 38840869 38840869 single base substitution G A intron_variant MELA-AU 7 38840869 38840869 single base substitution G A upstream_gene_variant MELA-AU 7 38840934 38840934 single base substitution G A intron_variant MELA-AU 7 38840934 38840934 single base substitution G A upstream_gene_variant MELA-AU 7 38841724 38841724 single base substitution G A intron_variant MELA-AU 7 38841737 38841737 deletion of <=200bp A - intron_variant MELA-AU 7 38842218 38842218 single base substitution G A intron_variant MELA-AU 7 38843060 38843060 single base substitution G A intron_variant MELA-AU 7 38843446 38843446 single base substitution C T intron_variant MELA-AU 7 38844160 38844160 single base substitution G A intron_variant MELA-AU 7 38844485 38844485 single base substitution G A intron_variant MELA-AU 7 38844493 38844493 single base substitution A T intron_variant MELA-AU 7 38846078 38846078 single base substitution G A intron_variant MELA-AU 7 38846323 38846323 single base substitution G A intron_variant MELA-AU 7 38846431 38846431 single base substitution G A intron_variant MELA-AU 7 38846838 38846838 single base substitution A G intron_variant MELA-AU 7 38846872 38846872 single base substitution G A intron_variant MELA-AU 7 38847078 38847078 single base substitution G A intron_variant MELA-AU 7 38847238 38847238 single base substitution G A intron_variant MELA-AU 7 38849026 38849026 single base substitution G A intron_variant MELA-AU 7 38849801 38849801 single base substitution A G intron_variant MELA-AU 7 38850223 38850223 single base substitution T G intron_variant MELA-AU 7 38850403 38850403 single base substitution G A intron_variant MELA-AU 7 38850896 38850896 single base substitution C A intron_variant MELA-AU 7 38851017 38851017 single base substitution G A intron_variant MELA-AU 7 38851343 38851343 single base substitution G A intron_variant MELA-AU 7 38851716 38851716 single base substitution G A intron_variant MELA-AU 7 38851897 38851897 single base substitution G A intron_variant MELA-AU 7 38852221 38852221 single base substitution A T intron_variant MELA-AU 7 38852857 38852857 single base substitution G T downstream_gene_variant MELA-AU 7 38852857 38852857 single base substitution G T intron_variant MELA-AU 7 38852910 38852910 single base substitution G A downstream_gene_variant MELA-AU 7 38852910 38852910 single base substitution G A intron_variant MELA-AU 7 38852952 38852952 single base substitution G A downstream_gene_variant MELA-AU 7 38852952 38852952 single base substitution G A intron_variant MELA-AU 7 38852972 38852972 single base substitution G T downstream_gene_variant MELA-AU 7 38852972 38852972 single base substitution G T intron_variant MELA-AU 7 38853023 38853023 single base substitution G A downstream_gene_variant MELA-AU 7 38853023 38853023 single base substitution G A intron_variant MELA-AU 7 38853200 38853200 single base substitution G A downstream_gene_variant MELA-AU 7 38853200 38853200 single base substitution G A intron_variant MELA-AU 7 38853808 38853808 single base substitution G A downstream_gene_variant MELA-AU 7 38853808 38853808 single base substitution G A intron_variant MELA-AU 7 38854256 38854256 single base substitution A T downstream_gene_variant MELA-AU 7 38854256 38854256 single base substitution A T intron_variant MELA-AU 7 38854414 38854414 single base substitution C T downstream_gene_variant MELA-AU 7 38854414 38854414 single base substitution C T intron_variant MELA-AU 7 38854553 38854555 multiple base substitution (>=2bp and <=200bp) CCC TTT downstream_gene_variant MELA-AU 7 38854553 38854555 multiple base substitution (>=2bp and <=200bp) CCC TTT intron_variant MELA-AU 7 38854644 38854644 single base substitution T C downstream_gene_variant MELA-AU 7 38854644 38854644 single base substitution T C intron_variant MELA-AU 7 38855003 38855003 single base substitution A C downstream_gene_variant MELA-AU 7 38855003 38855003 single base substitution A C intron_variant MELA-AU 7 38855082 38855082 single base substitution G A downstream_gene_variant MELA-AU 7 38855082 38855082 single base substitution G A intron_variant MELA-AU 7 38855367 38855367 single base substitution C T downstream_gene_variant MELA-AU 7 38855367 38855367 single base substitution C T intron_variant MELA-AU 7 38855468 38855468 single base substitution G A downstream_gene_variant MELA-AU 7 38855468 38855468 single base substitution G A intron_variant MELA-AU 7 38855537 38855537 single base substitution T C downstream_gene_variant MELA-AU 7 38855537 38855537 single base substitution T C intron_variant MELA-AU 7 38855929 38855929 single base substitution G T downstream_gene_variant MELA-AU 7 38855929 38855929 single base substitution G T intron_variant MELA-AU 7 38856182 38856182 single base substitution G C downstream_gene_variant MELA-AU 7 38856182 38856182 single base substitution G C intron_variant MELA-AU 7 38856326 38856326 single base substitution G A downstream_gene_variant MELA-AU 7 38856326 38856326 single base substitution G A intron_variant MELA-AU 7 38856580 38856580 single base substitution G A downstream_gene_variant MELA-AU 7 38856580 38856580 single base substitution G A intron_variant MELA-AU 7 38856749 38856749 single base substitution G A downstream_gene_variant MELA-AU 7 38856749 38856749 single base substitution G A intron_variant MELA-AU 7 38856762 38856762 single base substitution G A downstream_gene_variant MELA-AU 7 38856762 38856762 single base substitution G A intron_variant MELA-AU 7 38857307 38857307 single base substitution G A downstream_gene_variant MELA-AU 7 38857307 38857307 single base substitution G A intron_variant MELA-AU 7 38857704 38857704 single base substitution G A downstream_gene_variant MELA-AU 7 38857704 38857704 single base substitution G A intron_variant MELA-AU 7 38857906 38857906 single base substitution G A downstream_gene_variant MELA-AU 7 38857906 38857906 single base substitution G A intron_variant MELA-AU 7 38859091 38859091 single base substitution G C downstream_gene_variant MELA-AU 7 38859091 38859091 single base substitution G C intron_variant MELA-AU 7 38859171 38859171 single base substitution T A downstream_gene_variant MELA-AU 7 38859171 38859171 single base substitution T A intron_variant MELA-AU 7 38859276 38859276 single base substitution G C downstream_gene_variant MELA-AU 7 38859276 38859276 single base substitution G C intron_variant MELA-AU 7 38859311 38859311 single base substitution C T downstream_gene_variant MELA-AU 7 38859311 38859311 single base substitution C T intron_variant MELA-AU 7 38859315 38859315 single base substitution G A downstream_gene_variant MELA-AU 7 38859315 38859315 single base substitution G A intron_variant MELA-AU 7 38859922 38859923 multiple base substitution (>=2bp and <=200bp) AA CT downstream_gene_variant MELA-AU 7 38859922 38859923 multiple base substitution (>=2bp and <=200bp) AA CT intron_variant MELA-AU 7 38860737 38860739 deletion of <=200bp TAC - downstream_gene_variant MELA-AU 7 38860737 38860739 deletion of <=200bp TAC - intron_variant MELA-AU 7 38861101 38861101 single base substitution G A intron_variant MELA-AU 7 38861155 38861155 single base substitution G A intron_variant MELA-AU 7 38861210 38861210 single base substitution G A intron_variant MELA-AU 7 38861234 38861234 single base substitution G A intron_variant MELA-AU 7 38861848 38861848 single base substitution G A intron_variant MELA-AU 7 38862020 38862020 single base substitution G A intron_variant MELA-AU 7 38862282 38862282 single base substitution G A intron_variant MELA-AU 7 38862362 38862362 single base substitution G A intron_variant MELA-AU 7 38863366 38863366 single base substitution G A intron_variant MELA-AU 7 38863398 38863398 single base substitution G A intron_variant MELA-AU 7 38863466 38863466 single base substitution G A intron_variant MELA-AU 7 38863470 38863471 multiple base substitution (>=2bp and <=200bp) AA GG intron_variant MELA-AU 7 38863553 38863553 single base substitution G A intron_variant MELA-AU 7 38863659 38863659 single base substitution G A intron_variant MELA-AU 7 38864071 38864071 single base substitution G A intron_variant MELA-AU 7 38865111 38865111 single base substitution G A intron_variant MELA-AU 7 38865112 38865112 single base substitution G A intron_variant MELA-AU 7 38865131 38865131 single base substitution G A intron_variant MELA-AU 7 38865316 38865316 single base substitution G A intron_variant MELA-AU 7 38866763 38866763 single base substitution G A intron_variant MELA-AU 7 38867600 38867600 single base substitution A C intron_variant MELA-AU 7 38867794 38867794 single base substitution T C intron_variant MELA-AU 7 38867869 38867869 single base substitution G A intron_variant MELA-AU 7 38868143 38868143 single base substitution C G intron_variant MELA-AU 7 38868605 38868605 single base substitution A G intron_variant MELA-AU 7 38868793 38868794 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 7 38869092 38869092 single base substitution T G intron_variant MELA-AU 7 38869143 38869143 single base substitution C T intron_variant MELA-AU 7 38869305 38869305 single base substitution G A intron_variant MELA-AU 7 38869432 38869432 single base substitution G A intron_variant MELA-AU 7 38869705 38869705 single base substitution C A intron_variant MELA-AU 7 38870365 38870366 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 38871363 38871363 single base substitution A T intron_variant MELA-AU 7 38871363 38871363 single base substitution A T upstream_gene_variant MELA-AU 7 38871595 38871595 single base substitution G A intron_variant MELA-AU 7 38871595 38871595 single base substitution G A upstream_gene_variant MELA-AU 7 38872441 38872441 single base substitution G A intron_variant MELA-AU 7 38872441 38872441 single base substitution G A upstream_gene_variant MELA-AU 7 38872864 38872864 single base substitution C T intron_variant MELA-AU 7 38872864 38872864 single base substitution C T upstream_gene_variant MELA-AU 7 38872878 38872879 multiple base substitution (>=2bp and <=200bp) TT AC intron_variant MELA-AU 7 38872878 38872879 multiple base substitution (>=2bp and <=200bp) TT AC upstream_gene_variant MELA-AU 7 38872956 38872956 single base substitution C T intron_variant MELA-AU 7 38872956 38872956 single base substitution C T upstream_gene_variant MELA-AU 7 38873395 38873395 single base substitution A C intron_variant MELA-AU 7 38873395 38873395 single base substitution A C upstream_gene_variant MELA-AU 7 38874456 38874456 single base substitution A T intron_variant MELA-AU 7 38874456 38874456 single base substitution A T upstream_gene_variant MELA-AU 7 38875256 38875256 single base substitution C T intron_variant MELA-AU 7 38875256 38875256 single base substitution C T upstream_gene_variant MELA-AU 7 38875431 38875431 single base substitution G A intron_variant MELA-AU 7 38875431 38875431 single base substitution G A upstream_gene_variant MELA-AU 7 38875542 38875542 single base substitution C T intron_variant MELA-AU 7 38875542 38875542 single base substitution C T upstream_gene_variant MELA-AU 7 38876309 38876309 single base substitution A G intron_variant MELA-AU 7 38877301 38877301 single base substitution G T intron_variant MELA-AU 7 38878560 38878560 single base substitution C T intron_variant MELA-AU 7 38878638 38878638 single base substitution G A intron_variant MELA-AU 7 38878913 38878913 single base substitution T A intron_variant MELA-AU 7 38879457 38879457 single base substitution A T intron_variant MELA-AU 7 38879525 38879525 single base substitution C T intron_variant MELA-AU 7 38879710 38879710 single base substitution G A intron_variant MELA-AU 7 38879999 38879999 single base substitution G A intron_variant MELA-AU 7 38880752 38880752 single base substitution G A intron_variant MELA-AU 7 38883706 38883706 single base substitution G A intron_variant MELA-AU 7 38883952 38883952 single base substitution C T intron_variant MELA-AU 7 38884040 38884040 single base substitution T C intron_variant MELA-AU 7 38884203 38884203 single base substitution A C intron_variant MELA-AU 7 38884511 38884511 single base substitution G A intron_variant MELA-AU 7 38885144 38885144 single base substitution T A intron_variant MELA-AU 7 38885178 38885178 single base substitution G A intron_variant MELA-AU 7 38886035 38886035 single base substitution G A intron_variant MELA-AU 7 38886121 38886121 single base substitution G A intron_variant MELA-AU 7 38886961 38886961 single base substitution T C intron_variant MELA-AU 7 38887355 38887355 single base substitution G A intron_variant MELA-AU 7 38887595 38887595 single base substitution A G intron_variant MELA-AU 7 38888835 38888835 single base substitution G A intron_variant MELA-AU 7 38889348 38889348 single base substitution G A intron_variant MELA-AU 7 38889608 38889608 single base substitution C A intron_variant MELA-AU 7 38889672 38889672 single base substitution A C intron_variant MELA-AU 7 38890548 38890548 single base substitution G A intron_variant MELA-AU 7 38891089 38891089 single base substitution G A intron_variant MELA-AU 7 38892085 38892086 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 38892186 38892186 single base substitution T C intron_variant MELA-AU 7 38892325 38892325 single base substitution C T intron_variant MELA-AU 7 38894080 38894080 single base substitution C T intron_variant MELA-AU 7 38894201 38894201 single base substitution G A intron_variant MELA-AU 7 38894387 38894387 single base substitution C T intron_variant MELA-AU 7 38894405 38894405 single base substitution T A intron_variant MELA-AU 7 38894452 38894452 single base substitution A G intron_variant MELA-AU 7 38894566 38894566 single base substitution T C intron_variant MELA-AU 7 38895470 38895470 single base substitution A G intron_variant MELA-AU 7 38895901 38895901 single base substitution G A intron_variant MELA-AU 7 38896766 38896766 single base substitution G A intron_variant MELA-AU 7 38896962 38896962 single base substitution A C intron_variant MELA-AU 7 38897048 38897048 single base substitution C T intron_variant MELA-AU 7 38897060 38897060 single base substitution A G intron_variant MELA-AU 7 38897062 38897062 single base substitution G A intron_variant MELA-AU 7 38897601 38897601 single base substitution A T intron_variant MELA-AU 7 38898829 38898829 single base substitution T G intron_variant MELA-AU 7 38899089 38899089 single base substitution C T intron_variant MELA-AU 7 38899101 38899101 single base substitution G A intron_variant MELA-AU 7 38899102 38899102 single base substitution G A intron_variant MELA-AU 7 38899128 38899128 single base substitution T C intron_variant MELA-AU 7 38899357 38899357 insertion of <=200bp - T intron_variant MELA-AU 7 38899717 38899717 single base substitution G A intron_variant MELA-AU 7 38899724 38899724 single base substitution C T intron_variant MELA-AU 7 38899726 38899726 single base substitution C T intron_variant MELA-AU 7 38899731 38899731 single base substitution T C intron_variant MELA-AU 7 38900437 38900437 single base substitution C T intron_variant MELA-AU 7 38901108 38901108 single base substitution G A intron_variant MELA-AU 7 38902413 38902413 single base substitution G A intron_variant MELA-AU 7 38902543 38902543 single base substitution A G intron_variant MELA-AU 7 38903212 38903212 single base substitution G A intron_variant MELA-AU 7 38903467 38903467 single base substitution G A intron_variant MELA-AU 7 38903491 38903492 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38904040 38904040 single base substitution G A intron_variant MELA-AU 7 38905308 38905308 single base substitution G A intron_variant MELA-AU 7 38905552 38905552 single base substitution T G intron_variant MELA-AU 7 38906124 38906124 single base substitution G A intron_variant MELA-AU 7 38907294 38907294 single base substitution G A intron_variant MELA-AU 7 38907756 38907756 single base substitution G A intron_variant MELA-AU 7 38907936 38907936 single base substitution G A intron_variant MELA-AU 7 38908050 38908050 single base substitution G A intron_variant MELA-AU 7 38908218 38908218 single base substitution C T intron_variant MELA-AU 7 38908249 38908249 single base substitution G A intron_variant MELA-AU 7 38908370 38908370 single base substitution A C intron_variant MELA-AU 7 38908620 38908620 single base substitution G A intron_variant MELA-AU 7 38908705 38908705 single base substitution G A intron_variant MELA-AU 7 38909914 38909914 single base substitution G A intron_variant MELA-AU 7 38910285 38910285 single base substitution G A intron_variant MELA-AU 7 38910535 38910535 single base substitution G A intron_variant MELA-AU 7 38911587 38911587 single base substitution A G intron_variant MELA-AU 7 38911821 38911821 single base substitution G A intron_variant MELA-AU 7 38911999 38911999 single base substitution G A intron_variant MELA-AU 7 38912036 38912036 single base substitution G A intron_variant MELA-AU 7 38912479 38912479 single base substitution G A intron_variant MELA-AU 7 38912631 38912631 single base substitution G A intron_variant MELA-AU 7 38912932 38912932 single base substitution G A intron_variant MELA-AU 7 38914527 38914527 single base substitution G A intron_variant MELA-AU 7 38915458 38915458 single base substitution G A intron_variant MELA-AU 7 38916092 38916096 deletion of <=200bp ATCAC - intron_variant MELA-AU 7 38916247 38916247 single base substitution A C intron_variant MELA-AU 7 38916841 38916841 single base substitution T A intron_variant MELA-AU 7 38917362 38917362 single base substitution G A intron_variant MELA-AU 7 38917443 38917443 single base substitution G A intron_variant MELA-AU 7 38918287 38918287 single base substitution C T intron_variant MELA-AU 7 38919214 38919214 single base substitution C T intron_variant MELA-AU 7 38919362 38919362 single base substitution G A intron_variant MELA-AU 7 38919821 38919821 single base substitution C T intron_variant MELA-AU 7 38920018 38920018 single base substitution G A intron_variant MELA-AU 7 38920051 38920051 single base substitution C T intron_variant MELA-AU 7 38922268 38922268 insertion of <=200bp - G intron_variant MELA-AU 7 38922523 38922523 single base substitution C T intron_variant MELA-AU 7 38922895 38922895 single base substitution G A intron_variant MELA-AU 7 38923313 38923313 single base substitution G A intron_variant MELA-AU 7 38923351 38923351 single base substitution G A intron_variant MELA-AU 7 38923724 38923724 single base substitution T C intron_variant MELA-AU 7 38923821 38923821 single base substitution G T intron_variant MELA-AU 7 38924766 38924766 single base substitution C A intron_variant MELA-AU 7 38924781 38924781 single base substitution C T intron_variant MELA-AU 7 38925071 38925071 single base substitution C T intron_variant MELA-AU 7 38925701 38925701 single base substitution G A intron_variant MELA-AU 7 38925769 38925769 single base substitution C T intron_variant MELA-AU 7 38925790 38925790 single base substitution G A intron_variant MELA-AU 7 38926406 38926406 single base substitution G A intron_variant MELA-AU 7 38926549 38926549 single base substitution G A intron_variant MELA-AU 7 38926607 38926607 single base substitution A G intron_variant MELA-AU 7 38926792 38926792 single base substitution C T intron_variant MELA-AU 7 38926793 38926793 single base substitution G A intron_variant MELA-AU 7 38927266 38927266 single base substitution G A intron_variant MELA-AU 7 38927402 38927402 single base substitution G A intron_variant MELA-AU 7 38927665 38927665 single base substitution C T intron_variant MELA-AU 7 38927938 38927938 single base substitution A T intron_variant MELA-AU 7 38927979 38927979 single base substitution G A intron_variant MELA-AU 7 38928253 38928253 single base substitution A G intron_variant MELA-AU 7 38928789 38928789 single base substitution G A intron_variant MELA-AU 7 38928790 38928790 single base substitution G A intron_variant MELA-AU 7 38929722 38929722 single base substitution G A intron_variant MELA-AU 7 38930458 38930458 deletion of <=200bp A - intron_variant MELA-AU 7 38931320 38931320 single base substitution T C intron_variant MELA-AU 7 38931598 38931598 single base substitution G A intron_variant MELA-AU 7 38932125 38932125 single base substitution T C intron_variant MELA-AU 7 38932460 38932460 single base substitution A G intron_variant MELA-AU 7 38932619 38932619 single base substitution G A intron_variant MELA-AU 7 38932880 38932880 single base substitution T A intron_variant MELA-AU 7 38933705 38933733 deletion of <=200bp AAATATATAAGGAAAATGCCTGTCCTTCA - intron_variant MELA-AU 7 38934741 38934741 single base substitution G A intron_variant MELA-AU 7 38935166 38935167 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38935167 38935167 single base substitution G A intron_variant MELA-AU 7 38935446 38935446 single base substitution C A intron_variant MELA-AU 7 38935745 38935745 single base substitution G A intron_variant MELA-AU 7 38936549 38936550 multiple base substitution (>=2bp and <=200bp) TT CA intron_variant MELA-AU 7 38936897 38936897 single base substitution G A intron_variant MELA-AU 7 38937213 38937213 single base substitution C A intron_variant MELA-AU 7 38937560 38937560 single base substitution C G intron_variant MELA-AU 7 38937797 38937797 single base substitution G A intron_variant MELA-AU 7 38938352 38938352 single base substitution G A intron_variant MELA-AU 7 38938401 38938401 single base substitution G A intron_variant MELA-AU 7 38939180 38939180 single base substitution T C intron_variant MELA-AU 7 38939801 38939801 single base substitution G A intron_variant MELA-AU 7 38941020 38941020 single base substitution G A intron_variant MELA-AU 7 38942446 38942446 single base substitution G A intron_variant MELA-AU 7 38942756 38942756 single base substitution A C intron_variant MELA-AU 7 38942830 38942830 single base substitution A G intron_variant MELA-AU 7 38943041 38943041 single base substitution G A intron_variant MELA-AU 7 38943371 38943371 single base substitution G A intron_variant MELA-AU 7 38944341 38944341 single base substitution G A intron_variant MELA-AU 7 38944393 38944393 single base substitution G A intron_variant MELA-AU 7 38944394 38944394 single base substitution G A intron_variant MELA-AU 7 38944511 38944511 single base substitution T C intron_variant MELA-AU 7 38944589 38944589 single base substitution G C intron_variant MELA-AU 7 38944893 38944893 single base substitution G A intron_variant MELA-AU 7 38944902 38944902 single base substitution C T intron_variant MELA-AU 7 38945215 38945215 single base substitution G A intron_variant MELA-AU 7 38945616 38945616 single base substitution G A intron_variant MELA-AU 7 38945618 38945618 single base substitution A G intron_variant MELA-AU 7 38946341 38946341 single base substitution G A intron_variant MELA-AU 7 38947627 38947627 single base substitution G A intron_variant MELA-AU 7 38948806 38948806 single base substitution G A 5_prime_UTR_variant MELA-AU 7 38948806 38948806 single base substitution G A intron_variant MELA-AU 7 38948806 38948806 single base substitution G A upstream_gene_variant MELA-AU 7 38948815 38948815 single base substitution G A 5_prime_UTR_variant MELA-AU 7 38948815 38948815 single base substitution G A intron_variant MELA-AU 7 38948815 38948815 single base substitution G A upstream_gene_variant MELA-AU 7 38949402 38949402 single base substitution A T intron_variant MELA-AU 7 38949402 38949402 single base substitution A T upstream_gene_variant MELA-AU 7 38949805 38949805 single base substitution C G intron_variant MELA-AU 7 38949805 38949805 single base substitution C G upstream_gene_variant MELA-AU 7 38949857 38949857 single base substitution C T intron_variant MELA-AU 7 38949857 38949857 single base substitution C T upstream_gene_variant MELA-AU 7 38949945 38949945 single base substitution G A intron_variant MELA-AU 7 38949945 38949945 single base substitution G A upstream_gene_variant MELA-AU 7 38949961 38949961 single base substitution G A intron_variant MELA-AU 7 38949961 38949961 single base substitution G A upstream_gene_variant MELA-AU 7 38950455 38950455 single base substitution G A intron_variant MELA-AU 7 38950455 38950455 single base substitution G A upstream_gene_variant MELA-AU 7 38950570 38950570 single base substitution C T intron_variant MELA-AU 7 38950570 38950570 single base substitution C T upstream_gene_variant MELA-AU 7 38950575 38950575 single base substitution G A intron_variant MELA-AU 7 38950575 38950575 single base substitution G A upstream_gene_variant MELA-AU 7 38950623 38950623 single base substitution G A intron_variant MELA-AU 7 38950623 38950623 single base substitution G A upstream_gene_variant MELA-AU 7 38950670 38950670 single base substitution T C intron_variant MELA-AU 7 38950670 38950670 single base substitution T C upstream_gene_variant MELA-AU 7 38950746 38950746 single base substitution C T intron_variant MELA-AU 7 38950746 38950746 single base substitution C T upstream_gene_variant MELA-AU 7 38950800 38950801 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 7 38950800 38950801 multiple base substitution (>=2bp and <=200bp) AG TA upstream_gene_variant MELA-AU 7 38951240 38951240 single base substitution T C intron_variant MELA-AU 7 38951240 38951240 single base substitution T C upstream_gene_variant MELA-AU 7 38951353 38951353 single base substitution G A intron_variant MELA-AU 7 38951353 38951353 single base substitution G A upstream_gene_variant MELA-AU 7 38951391 38951391 single base substitution C T intron_variant MELA-AU 7 38951391 38951391 single base substitution C T upstream_gene_variant MELA-AU 7 38951471 38951471 single base substitution C T intron_variant MELA-AU 7 38951471 38951471 single base substitution C T upstream_gene_variant MELA-AU 7 38951689 38951689 single base substitution G A intron_variant MELA-AU 7 38951689 38951689 single base substitution G A upstream_gene_variant MELA-AU 7 38951916 38951916 single base substitution C T intron_variant MELA-AU 7 38951916 38951916 single base substitution C T upstream_gene_variant MELA-AU 7 38951960 38951960 single base substitution G A intron_variant MELA-AU 7 38951960 38951960 single base substitution G A upstream_gene_variant MELA-AU 7 38952151 38952151 single base substitution C T intron_variant MELA-AU 7 38952151 38952151 single base substitution C T upstream_gene_variant MELA-AU 7 38952263 38952263 single base substitution C T intron_variant MELA-AU 7 38952263 38952263 single base substitution C T upstream_gene_variant MELA-AU 7 38952280 38952280 single base substitution G A intron_variant MELA-AU 7 38952280 38952280 single base substitution G A upstream_gene_variant MELA-AU 7 38952333 38952333 single base substitution G A intron_variant MELA-AU 7 38952333 38952333 single base substitution G A upstream_gene_variant MELA-AU 7 38952340 38952340 single base substitution C T intron_variant MELA-AU 7 38952340 38952340 single base substitution C T upstream_gene_variant MELA-AU 7 38952462 38952462 single base substitution G A intron_variant MELA-AU 7 38952462 38952462 single base substitution G A upstream_gene_variant MELA-AU 7 38952535 38952535 single base substitution C T intron_variant MELA-AU 7 38952535 38952535 single base substitution C T upstream_gene_variant MELA-AU 7 38952576 38952576 single base substitution C T intron_variant MELA-AU 7 38952576 38952576 single base substitution C T upstream_gene_variant MELA-AU 7 38952966 38952966 single base substitution G A intron_variant MELA-AU 7 38952966 38952966 single base substitution G A upstream_gene_variant MELA-AU 7 38953097 38953097 single base substitution G A intron_variant MELA-AU 7 38953097 38953097 single base substitution G A upstream_gene_variant MELA-AU 7 38953104 38953104 single base substitution G A intron_variant MELA-AU 7 38953104 38953104 single base substitution G A upstream_gene_variant MELA-AU 7 38953358 38953358 single base substitution C T intron_variant MELA-AU 7 38953358 38953358 single base substitution C T upstream_gene_variant MELA-AU 7 38953853 38953853 single base substitution G A intron_variant MELA-AU 7 38954120 38954120 single base substitution C A intron_variant MELA-AU 7 38954265 38954265 single base substitution C T intron_variant MELA-AU 7 38954403 38954404 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 38954442 38954442 single base substitution G A intron_variant MELA-AU 7 38954443 38954443 single base substitution G A intron_variant MELA-AU 7 38954455 38954455 single base substitution C T intron_variant MELA-AU 7 38954638 38954638 single base substitution G A intron_variant MELA-AU 7 38954689 38954689 single base substitution G A intron_variant MELA-AU 7 38954795 38954795 single base substitution G A intron_variant MELA-AU 7 38954862 38954862 single base substitution C T intron_variant MELA-AU 7 38955078 38955078 single base substitution G A intron_variant MELA-AU 7 38955211 38955211 single base substitution G A intron_variant MELA-AU 7 38955291 38955291 single base substitution T C intron_variant MELA-AU 7 38955437 38955437 single base substitution A C intron_variant MELA-AU 7 38955537 38955537 single base substitution C G intron_variant MELA-AU 7 38956204 38956204 single base substitution C T intron_variant MELA-AU 7 38956473 38956473 single base substitution G A intron_variant MELA-AU 7 38956485 38956485 single base substitution C T intron_variant MELA-AU 7 38956831 38956831 single base substitution G A intron_variant MELA-AU 7 38956850 38956850 single base substitution G A intron_variant MELA-AU 7 38956898 38956898 single base substitution G A intron_variant MELA-AU 7 38956983 38956983 single base substitution C T intron_variant MELA-AU 7 38957220 38957220 single base substitution T C intron_variant MELA-AU 7 38957241 38957241 single base substitution C T intron_variant MELA-AU 7 38957289 38957289 single base substitution A G intron_variant MELA-AU 7 38957396 38957396 single base substitution G A intron_variant MELA-AU 7 38957431 38957431 single base substitution G A intron_variant MELA-AU 7 38957891 38957891 single base substitution C T intron_variant MELA-AU 7 38958087 38958087 single base substitution C T intron_variant MELA-AU 7 38958293 38958293 insertion of <=200bp - C intron_variant MELA-AU 7 38958475 38958475 single base substitution G A intron_variant MELA-AU 7 38958502 38958502 single base substitution C T intron_variant MELA-AU 7 38958953 38958953 single base substitution G A intron_variant MELA-AU 7 38959069 38959069 single base substitution G A intron_variant MELA-AU 7 38959337 38959337 single base substitution C T intron_variant MELA-AU 7 38959415 38959415 single base substitution T A intron_variant MELA-AU 7 38959590 38959597 deletion of <=200bp CCAAGGTT - intron_variant MELA-AU 7 38959922 38959922 single base substitution C T intron_variant MELA-AU 7 38960024 38960024 single base substitution G A intron_variant MELA-AU 7 38960316 38960316 single base substitution T A intron_variant MELA-AU 7 38960407 38960407 single base substitution C T intron_variant MELA-AU 7 38960680 38960680 single base substitution C T intron_variant MELA-AU 7 38960699 38960699 single base substitution G A intron_variant MELA-AU 7 38961216 38961216 single base substitution T A intron_variant MELA-AU 7 38961386 38961386 single base substitution C T intron_variant MELA-AU 7 38961535 38961535 single base substitution C T intron_variant MELA-AU 7 38961646 38961646 single base substitution G A intron_variant MELA-AU 7 38961682 38961682 single base substitution T C intron_variant MELA-AU 7 38961865 38961865 single base substitution T C intron_variant MELA-AU 7 38961986 38961986 single base substitution G A intron_variant MELA-AU 7 38962187 38962187 single base substitution G A intron_variant MELA-AU 7 38962630 38962630 single base substitution T A intron_variant MELA-AU 7 38962777 38962777 single base substitution C T intron_variant MELA-AU 7 38962855 38962855 single base substitution G A intron_variant MELA-AU 7 38962865 38962865 single base substitution C T intron_variant MELA-AU 7 38963063 38963063 single base substitution C T intron_variant MELA-AU 7 38963136 38963136 single base substitution T C intron_variant MELA-AU 7 38963175 38963175 single base substitution G A intron_variant MELA-AU 7 38963194 38963194 single base substitution T C intron_variant MELA-AU 7 38963196 38963196 single base substitution C T intron_variant MELA-AU 7 38963299 38963299 single base substitution T C intron_variant MELA-AU 7 38963361 38963361 single base substitution C T intron_variant MELA-AU 7 38963623 38963623 single base substitution G A intron_variant MELA-AU 7 38963635 38963635 single base substitution C T intron_variant MELA-AU 7 38963696 38963696 single base substitution C T intron_variant MELA-AU 7 38963783 38963783 single base substitution C T intron_variant MELA-AU 7 38963870 38963870 single base substitution G A intron_variant MELA-AU 7 38964024 38964024 single base substitution C T intron_variant MELA-AU 7 38964177 38964177 single base substitution T G intron_variant MELA-AU 7 38964180 38964180 single base substitution G A intron_variant MELA-AU 7 38964335 38964335 single base substitution G A intron_variant MELA-AU 7 38964442 38964442 single base substitution C T intron_variant MELA-AU 7 38964474 38964474 single base substitution G A intron_variant MELA-AU 7 38964578 38964578 single base substitution A G intron_variant MELA-AU 7 38964671 38964671 single base substitution A G intron_variant MELA-AU 7 38964778 38964778 single base substitution G A intron_variant MELA-AU 7 38964907 38964907 single base substitution G A intron_variant MELA-AU 7 38965677 38965677 single base substitution G A intron_variant MELA-AU 7 38966231 38966231 single base substitution G A intron_variant MELA-AU 7 38966269 38966269 single base substitution C T intron_variant MELA-AU 7 38966323 38966323 single base substitution G A intron_variant MELA-AU 7 38966379 38966379 single base substitution C T intron_variant MELA-AU 7 38966380 38966380 single base substitution C T intron_variant MELA-AU 7 38966439 38966439 single base substitution C T intron_variant MELA-AU 7 38966440 38966440 insertion of <=200bp - TTTTCTTTTCTTTTT intron_variant MELA-AU 7 38966622 38966622 single base substitution G A intron_variant MELA-AU 7 38966824 38966824 single base substitution C T intron_variant MELA-AU 7 38967030 38967030 single base substitution C G intron_variant MELA-AU 7 38967053 38967053 single base substitution C T intron_variant MELA-AU 7 38967091 38967091 single base substitution C T intron_variant MELA-AU 7 38967249 38967249 single base substitution C T intron_variant MELA-AU 7 38967354 38967354 single base substitution C T intron_variant MELA-AU 7 38967488 38967488 single base substitution G T intron_variant MELA-AU 7 38967490 38967490 single base substitution C T intron_variant MELA-AU 7 38967529 38967529 single base substitution C T intron_variant MELA-AU 7 38967598 38967598 single base substitution G A intron_variant MELA-AU 7 38967689 38967689 single base substitution G A intron_variant MELA-AU 7 38967737 38967737 single base substitution C T intron_variant MELA-AU 7 38968104 38968104 single base substitution C T intron_variant MELA-AU 7 38968313 38968313 single base substitution C T intron_variant MELA-AU 7 38968393 38968393 single base substitution G A intron_variant MELA-AU 7 38968837 38968837 single base substitution C T intron_variant MELA-AU 7 38968885 38968885 single base substitution G A intron_variant MELA-AU 7 38969008 38969009 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 38969205 38969205 single base substitution T G intron_variant MELA-AU 7 38969205 38969205 single base substitution T G upstream_gene_variant MELA-AU 7 38969629 38969629 single base substitution G A intron_variant MELA-AU 7 38969629 38969629 single base substitution G A upstream_gene_variant MELA-AU 7 38969659 38969659 single base substitution A G intron_variant MELA-AU 7 38969659 38969659 single base substitution A G upstream_gene_variant MELA-AU 7 38969671 38969671 single base substitution G A intron_variant MELA-AU 7 38969671 38969671 single base substitution G A upstream_gene_variant MELA-AU 7 38969999 38969999 single base substitution C T intron_variant MELA-AU 7 38969999 38969999 single base substitution C T upstream_gene_variant MELA-AU 7 38970082 38970082 single base substitution C G intron_variant MELA-AU 7 38970082 38970082 single base substitution C G upstream_gene_variant MELA-AU 7 38970093 38970093 single base substitution G A intron_variant MELA-AU 7 38970093 38970093 single base substitution G A upstream_gene_variant MELA-AU 7 38970161 38970161 single base substitution G A intron_variant MELA-AU 7 38970161 38970161 single base substitution G A upstream_gene_variant MELA-AU 7 38970249 38970249 single base substitution C T intron_variant MELA-AU 7 38970249 38970249 single base substitution C T upstream_gene_variant MELA-AU 7 38970468 38970468 single base substitution C T intron_variant MELA-AU 7 38970468 38970468 single base substitution C T upstream_gene_variant MELA-AU 7 38970988 38970988 single base substitution G A intron_variant MELA-AU 7 38970988 38970988 single base substitution G A upstream_gene_variant MELA-AU 7 38971052 38971052 single base substitution G A intron_variant MELA-AU 7 38971052 38971052 single base substitution G A upstream_gene_variant MELA-AU 7 38971320 38971320 single base substitution C G intron_variant MELA-AU 7 38971320 38971320 single base substitution C G upstream_gene_variant MELA-AU 7 38971387 38971387 single base substitution G A intron_variant MELA-AU 7 38971387 38971387 single base substitution G A upstream_gene_variant MELA-AU 7 38971511 38971511 single base substitution C T intron_variant MELA-AU 7 38971511 38971511 single base substitution C T upstream_gene_variant MELA-AU 7 38971657 38971657 single base substitution G A intron_variant MELA-AU 7 38971657 38971657 single base substitution G A upstream_gene_variant MELA-AU 7 38971681 38971681 single base substitution C T intron_variant MELA-AU 7 38971681 38971681 single base substitution C T upstream_gene_variant MELA-AU 7 38971865 38971865 single base substitution C T intron_variant MELA-AU 7 38971865 38971865 single base substitution C T upstream_gene_variant MELA-AU 7 38972180 38972180 single base substitution C G upstream_gene_variant MELA-AU 7 38972255 38972255 single base substitution G A upstream_gene_variant MELA-AU 7 38972351 38972351 single base substitution A C upstream_gene_variant MELA-AU 7 38972361 38972361 single base substitution C T upstream_gene_variant MELA-AU 7 38972407 38972407 single base substitution C G upstream_gene_variant MELA-AU 7 38972504 38972504 single base substitution C G upstream_gene_variant MELA-AU 7 38972529 38972529 single base substitution G A upstream_gene_variant MELA-AU 7 38972610 38972610 single base substitution C T upstream_gene_variant MELA-AU 7 38972751 38972751 single base substitution C T upstream_gene_variant MELA-AU 7 38972861 38972861 single base substitution G A upstream_gene_variant MELA-AU 7 38972873 38972873 single base substitution G A upstream_gene_variant MELA-AU 7 38972926 38972926 single base substitution G A upstream_gene_variant MELA-AU 7 38972984 38972984 single base substitution C T upstream_gene_variant MELA-AU 7 38973152 38973152 single base substitution C T upstream_gene_variant MELA-AU 7 38973530 38973530 single base substitution A G upstream_gene_variant MELA-AU 7 38973532 38973532 single base substitution T A upstream_gene_variant MELA-AU 7 38973684 38973684 single base substitution G A upstream_gene_variant MELA-AU 7 38973722 38973722 single base substitution C T upstream_gene_variant MELA-AU 7 38973822 38973822 single base substitution C T upstream_gene_variant MELA-AU 7 38974079 38974079 single base substitution G A upstream_gene_variant MELA-AU 7 38974222 38974222 single base substitution G A upstream_gene_variant MELA-AU 7 38974378 38974378 single base substitution A G upstream_gene_variant MELA-AU 7 38974406 38974406 single base substitution C T upstream_gene_variant MELA-AU 7 38974614 38974614 single base substitution C T upstream_gene_variant MELA-AU 7 38974750 38974750 single base substitution C T upstream_gene_variant MELA-AU 7 38974759 38974759 single base substitution T A upstream_gene_variant MELA-AU 7 38974779 38974779 single base substitution G T upstream_gene_variant MELA-AU 7 38974915 38974915 single base substitution T G upstream_gene_variant MELA-AU 7 38974916 38974916 single base substitution C T upstream_gene_variant MELA-AU 7 38975075 38975075 single base substitution C T upstream_gene_variant MELA-AU 7 38975100 38975100 single base substitution G A upstream_gene_variant MELA-AU 7 38975143 38975143 single base substitution C T upstream_gene_variant MELA-AU 7 38975166 38975166 single base substitution C G upstream_gene_variant MELA-AU 7 38975215 38975215 single base substitution G A upstream_gene_variant MELA-AU 7 38975456 38975456 single base substitution C T upstream_gene_variant MELA-AU 7 38975466 38975466 single base substitution G A upstream_gene_variant MELA-AU 7 38975638 38975638 single base substitution G A upstream_gene_variant MELA-AU 7 38975725 38975725 single base substitution G A upstream_gene_variant MELA-AU 7 38975756 38975756 single base substitution C T upstream_gene_variant MELA-AU 7 38975828 38975828 single base substitution G A upstream_gene_variant MELA-AU 7 38975984 38975984 single base substitution G A upstream_gene_variant MELA-AU 7 38976116 38976116 single base substitution C T upstream_gene_variant MELA-AU 7 38976219 38976219 single base substitution G A upstream_gene_variant MELA-AU 7 38976432 38976432 single base substitution C T upstream_gene_variant MELA-AU 7 38976693 38976693 single base substitution G A upstream_gene_variant MELA-AU 7 38976758 38976758 single base substitution A T upstream_gene_variant MELA-AU 7 38976862 38976862 single base substitution G A upstream_gene_variant ORCA-IN 7 38761881 38761881 single base substitution T C downstream_gene_variant ORCA-IN 7 38767420 38767420 single base substitution A G intron_variant ORCA-IN 7 38767420 38767420 single base substitution A G upstream_gene_variant ORCA-IN 7 38783656 38783656 single base substitution T C intron_variant ORCA-IN 7 38817661 38817661 single base substitution G C intron_variant ORCA-IN 7 38817661 38817661 single base substitution G C upstream_gene_variant ORCA-IN 7 38824706 38824706 single base substitution T A intron_variant ORCA-IN 7 38832173 38832173 single base substitution A G downstream_gene_variant ORCA-IN 7 38832173 38832173 single base substitution A G intron_variant ORCA-IN 7 38850212 38850212 single base substitution C T intron_variant ORCA-IN 7 38857518 38857518 single base substitution G A downstream_gene_variant ORCA-IN 7 38857518 38857518 single base substitution G A intron_variant ORCA-IN 7 38889529 38889529 single base substitution T A intron_variant ORCA-IN 7 38902695 38902695 single base substitution G A intron_variant ORCA-IN 7 38902758 38902758 single base substitution A C intron_variant ORCA-IN 7 38914527 38914527 single base substitution G A intron_variant ORCA-IN 7 38924976 38924976 single base substitution C G intron_variant ORCA-IN 7 38929286 38929286 single base substitution G A intron_variant OV-AU 7 38758839 38758839 single base substitution C T downstream_gene_variant OV-AU 7 38764450 38764450 single base substitution C A 3_prime_UTR_variant OV-AU 7 38764450 38764450 single base substitution C A downstream_gene_variant OV-AU 7 38777986 38777986 single base substitution C T downstream_gene_variant OV-AU 7 38777986 38777986 single base substitution C T intron_variant OV-AU 7 38783228 38783228 single base substitution T A intron_variant OV-AU 7 38784157 38784157 single base substitution C T intron_variant OV-AU 7 38785396 38785396 single base substitution T C exon_variant OV-AU 7 38785396 38785396 single base substitution T C intron_variant OV-AU 7 38785396 38785396 single base substitution T C upstream_gene_variant OV-AU 7 38786911 38786911 single base substitution A C intron_variant OV-AU 7 38786911 38786911 single base substitution A C upstream_gene_variant OV-AU 7 38793064 38793064 single base substitution G T downstream_gene_variant OV-AU 7 38793064 38793064 single base substitution G T intron_variant OV-AU 7 38808135 38808135 single base substitution A G downstream_gene_variant OV-AU 7 38808135 38808135 single base substitution A G intron_variant OV-AU 7 38808135 38808135 single base substitution A G upstream_gene_variant OV-AU 7 38813923 38813923 single base substitution A G intron_variant OV-AU 7 38822390 38822390 single base substitution C T intron_variant OV-AU 7 38826643 38826643 single base substitution T C intron_variant OV-AU 7 38827553 38827553 single base substitution C G intron_variant OV-AU 7 38828990 38828990 single base substitution C T intron_variant OV-AU 7 38834454 38834454 single base substitution C A downstream_gene_variant OV-AU 7 38834454 38834454 single base substitution C A intron_variant OV-AU 7 38834851 38834851 single base substitution G T downstream_gene_variant OV-AU 7 38834851 38834851 single base substitution G T intron_variant OV-AU 7 38838732 38838732 single base substitution G T intron_variant OV-AU 7 38838732 38838732 single base substitution G T upstream_gene_variant OV-AU 7 38839254 38839254 single base substitution G A intron_variant OV-AU 7 38839254 38839254 single base substitution G A upstream_gene_variant OV-AU 7 38841500 38841500 single base substitution C T intron_variant OV-AU 7 38841500 38841500 single base substitution C T upstream_gene_variant OV-AU 7 38844695 38844695 single base substitution C T intron_variant OV-AU 7 38846092 38846092 single base substitution T A intron_variant OV-AU 7 38847360 38847360 single base substitution C A intron_variant OV-AU 7 38849254 38849254 single base substitution T C intron_variant OV-AU 7 38850740 38850740 single base substitution T G intron_variant OV-AU 7 38853117 38853117 single base substitution T A downstream_gene_variant OV-AU 7 38853117 38853117 single base substitution T A intron_variant OV-AU 7 38856898 38856898 single base substitution C G downstream_gene_variant OV-AU 7 38856898 38856898 single base substitution C G intron_variant OV-AU 7 38857048 38857048 single base substitution A T downstream_gene_variant OV-AU 7 38857048 38857048 single base substitution A T intron_variant OV-AU 7 38858375 38858375 single base substitution T C downstream_gene_variant OV-AU 7 38858375 38858375 single base substitution T C intron_variant OV-AU 7 38861880 38861880 single base substitution A T intron_variant OV-AU 7 38869237 38869237 single base substitution A T intron_variant OV-AU 7 38871997 38871997 single base substitution G A intron_variant OV-AU 7 38871997 38871997 single base substitution G A upstream_gene_variant OV-AU 7 38875431 38875431 single base substitution G A intron_variant OV-AU 7 38875431 38875431 single base substitution G A upstream_gene_variant OV-AU 7 38878596 38878596 single base substitution C G intron_variant OV-AU 7 38878801 38878801 single base substitution G A intron_variant OV-AU 7 38880507 38880507 single base substitution C G intron_variant OV-AU 7 38884663 38884663 single base substitution G T intron_variant OV-AU 7 38890501 38890501 single base substitution T A intron_variant OV-AU 7 38892701 38892701 single base substitution C G intron_variant OV-AU 7 38895423 38895423 single base substitution C G intron_variant OV-AU 7 38898145 38898145 single base substitution C T intron_variant OV-AU 7 38900722 38900722 single base substitution G T intron_variant OV-AU 7 38901037 38901037 single base substitution A T intron_variant OV-AU 7 38902843 38902843 single base substitution C A intron_variant OV-AU 7 38903885 38903885 single base substitution G C intron_variant OV-AU 7 38907154 38907154 single base substitution A T intron_variant OV-AU 7 38917527 38917527 single base substitution C G intron_variant OV-AU 7 38919863 38919863 single base substitution C G intron_variant OV-AU 7 38921248 38921248 single base substitution C A intron_variant OV-AU 7 38925400 38925400 single base substitution T G intron_variant OV-AU 7 38933679 38933679 single base substitution C G intron_variant OV-AU 7 38944634 38944634 single base substitution G T intron_variant OV-AU 7 38948920 38948920 single base substitution T C intron_variant OV-AU 7 38948920 38948920 single base substitution T C upstream_gene_variant OV-AU 7 38949911 38949911 single base substitution T C intron_variant OV-AU 7 38949911 38949911 single base substitution T C upstream_gene_variant OV-AU 7 38951003 38951003 single base substitution G A intron_variant OV-AU 7 38951003 38951003 single base substitution G A upstream_gene_variant OV-AU 7 38951515 38951515 single base substitution G T intron_variant OV-AU 7 38951515 38951515 single base substitution G T upstream_gene_variant OV-AU 7 38951694 38951694 single base substitution A T intron_variant OV-AU 7 38951694 38951694 single base substitution A T upstream_gene_variant OV-AU 7 38951844 38951844 single base substitution C G intron_variant OV-AU 7 38951844 38951844 single base substitution C G upstream_gene_variant OV-AU 7 38954206 38954206 single base substitution T C intron_variant OV-AU 7 38957661 38957661 single base substitution G A intron_variant OV-AU 7 38961939 38961939 single base substitution A T intron_variant OV-AU 7 38966446 38966446 single base substitution G A intron_variant OV-AU 7 38974879 38974879 single base substitution T A upstream_gene_variant PACA-AU 7 38757563 38757563 single base substitution T C downstream_gene_variant PACA-AU 7 38765063 38765063 single base substitution G A 3_prime_UTR_variant PACA-AU 7 38765063 38765063 single base substitution G A downstream_gene_variant PACA-AU 7 38767330 38767330 single base substitution T C intron_variant PACA-AU 7 38767330 38767330 single base substitution T C upstream_gene_variant PACA-AU 7 38768187 38768187 single base substitution C T splice_acceptor_variant PACA-AU 7 38768187 38768187 single base substitution C T upstream_gene_variant PACA-AU 7 38768598 38768598 single base substitution G A intron_variant PACA-AU 7 38768598 38768598 single base substitution G A upstream_gene_variant PACA-AU 7 38774591 38774591 single base substitution C T intron_variant PACA-AU 7 38775137 38775137 single base substitution C G intron_variant PACA-AU 7 38777707 38777707 single base substitution C A downstream_gene_variant PACA-AU 7 38777707 38777707 single base substitution C A intron_variant PACA-AU 7 38778808 38778808 single base substitution T A downstream_gene_variant PACA-AU 7 38778808 38778808 single base substitution T A intron_variant PACA-AU 7 38780554 38780554 single base substitution G T downstream_gene_variant PACA-AU 7 38780554 38780554 single base substitution G T intron_variant PACA-AU 7 38780655 38780655 single base substitution C T downstream_gene_variant PACA-AU 7 38780655 38780655 single base substitution C T intron_variant PACA-AU 7 38781916 38781916 single base substitution C T intron_variant PACA-AU 7 38797577 38797577 single base substitution G A downstream_gene_variant PACA-AU 7 38797577 38797577 single base substitution G A intron_variant PACA-AU 7 38798439 38798439 single base substitution C A intron_variant PACA-AU 7 38802001 38802001 single base substitution T C intron_variant PACA-AU 7 38806736 38806736 single base substitution C T intron_variant PACA-AU 7 38806736 38806736 single base substitution C T upstream_gene_variant PACA-AU 7 38806913 38806913 single base substitution C A intron_variant PACA-AU 7 38806913 38806913 single base substitution C A upstream_gene_variant PACA-AU 7 38818093 38818093 single base substitution G A intron_variant PACA-AU 7 38818093 38818093 single base substitution G A upstream_gene_variant PACA-AU 7 38822006 38822006 single base substitution T C intron_variant PACA-AU 7 38833839 38833839 single base substitution C T downstream_gene_variant PACA-AU 7 38833839 38833839 single base substitution C T intron_variant PACA-AU 7 38836924 38836924 single base substitution T C intron_variant PACA-AU 7 38836924 38836924 single base substitution T C upstream_gene_variant PACA-AU 7 38838190 38838190 single base substitution G A intron_variant PACA-AU 7 38838190 38838190 single base substitution G A upstream_gene_variant PACA-AU 7 38844372 38844372 single base substitution G A intron_variant PACA-AU 7 38844873 38844873 single base substitution G A intron_variant PACA-AU 7 38845258 38845258 single base substitution T C intron_variant PACA-AU 7 38851395 38851395 single base substitution C A intron_variant PACA-AU 7 38851588 38851588 single base substitution G C intron_variant PACA-AU 7 38852312 38852312 deletion of <=200bp A - intron_variant PACA-AU 7 38853862 38853862 single base substitution A G downstream_gene_variant PACA-AU 7 38853862 38853862 single base substitution A G intron_variant PACA-AU 7 38854017 38854017 single base substitution C G downstream_gene_variant PACA-AU 7 38854017 38854017 single base substitution C G intron_variant PACA-AU 7 38855553 38855553 single base substitution C T downstream_gene_variant PACA-AU 7 38855553 38855553 single base substitution C T intron_variant PACA-AU 7 38856655 38856655 deletion of <=200bp T - downstream_gene_variant PACA-AU 7 38856655 38856655 deletion of <=200bp T - intron_variant PACA-AU 7 38857213 38857213 single base substitution G A downstream_gene_variant PACA-AU 7 38857213 38857213 single base substitution G A intron_variant PACA-AU 7 38858995 38858995 single base substitution C T downstream_gene_variant PACA-AU 7 38858995 38858995 single base substitution C T intron_variant PACA-AU 7 38867804 38867804 single base substitution A C intron_variant PACA-AU 7 38870748 38870748 single base substitution C G intron_variant PACA-AU 7 38870850 38870850 single base substitution G A 5_prime_UTR_variant PACA-AU 7 38870850 38870850 single base substitution G A intron_variant PACA-AU 7 38873873 38873873 single base substitution T C intron_variant PACA-AU 7 38873873 38873873 single base substitution T C upstream_gene_variant PACA-AU 7 38877600 38877600 single base substitution G A intron_variant PACA-AU 7 38880586 38880586 single base substitution G T intron_variant PACA-AU 7 38883206 38883206 single base substitution C T intron_variant PACA-AU 7 38883293 38883293 single base substitution C A intron_variant PACA-AU 7 38883759 38883759 single base substitution A G intron_variant PACA-AU 7 38884518 38884518 single base substitution A C intron_variant PACA-AU 7 38888792 38888792 single base substitution T A intron_variant PACA-AU 7 38889192 38889192 single base substitution C T intron_variant PACA-AU 7 38891559 38891559 single base substitution G C intron_variant PACA-AU 7 38901733 38901733 single base substitution T A intron_variant PACA-AU 7 38902700 38902700 single base substitution C G intron_variant PACA-AU 7 38903600 38903600 single base substitution T C intron_variant PACA-AU 7 38905265 38905265 single base substitution T C intron_variant PACA-AU 7 38907154 38907154 single base substitution A T intron_variant PACA-AU 7 38907797 38907797 single base substitution G A intron_variant PACA-AU 7 38916104 38916104 single base substitution G A intron_variant PACA-AU 7 38916776 38916776 single base substitution C A intron_variant PACA-AU 7 38922507 38922507 single base substitution C G intron_variant PACA-AU 7 38924314 38924314 single base substitution C T intron_variant PACA-AU 7 38933046 38933046 deletion of <=200bp C - intron_variant PACA-AU 7 38935051 38935051 single base substitution C T intron_variant PACA-AU 7 38941799 38941799 single base substitution C T intron_variant PACA-AU 7 38949911 38949911 single base substitution T C intron_variant PACA-AU 7 38949911 38949911 single base substitution T C upstream_gene_variant PACA-AU 7 38951317 38951317 single base substitution C G intron_variant PACA-AU 7 38951317 38951317 single base substitution C G upstream_gene_variant PACA-AU 7 38959848 38959848 single base substitution G A intron_variant PACA-AU 7 38963228 38963228 single base substitution C T intron_variant PACA-AU 7 38965666 38965666 single base substitution T A intron_variant PACA-AU 7 38968783 38968783 single base substitution G A intron_variant PACA-AU 7 38970855 38970855 single base substitution A G intron_variant PACA-AU 7 38970855 38970855 single base substitution A G upstream_gene_variant PACA-AU 7 38974169 38974174 deletion of <=200bp CACTTC - upstream_gene_variant PACA-AU 7 38974388 38974388 single base substitution A G upstream_gene_variant PACA-CA 7 38761522 38761522 single base substitution T C downstream_gene_variant PACA-CA 7 38763001 38763001 single base substitution A G 3_prime_UTR_variant PACA-CA 7 38763001 38763001 single base substitution A G downstream_gene_variant PACA-CA 7 38763714 38763714 deletion of <=200bp A - 3_prime_UTR_variant PACA-CA 7 38763714 38763714 deletion of <=200bp A - downstream_gene_variant PACA-CA 7 38763914 38763914 single base substitution T C 3_prime_UTR_variant PACA-CA 7 38763914 38763914 single base substitution T C downstream_gene_variant PACA-CA 7 38766100 38766100 single base substitution A C intron_variant PACA-CA 7 38778102 38778102 deletion of <=200bp A - downstream_gene_variant PACA-CA 7 38778102 38778102 deletion of <=200bp A - intron_variant PACA-CA 7 38778989 38778989 single base substitution T C downstream_gene_variant PACA-CA 7 38778989 38778989 single base substitution T C intron_variant PACA-CA 7 38779211 38779211 single base substitution C A downstream_gene_variant PACA-CA 7 38779211 38779211 single base substitution C A intron_variant PACA-CA 7 38781699 38781699 single base substitution G T exon_variant PACA-CA 7 38781699 38781699 single base substitution G T missense_variant N56K 168C>A PACA-CA 7 38781699 38781699 single base substitution G T missense_variant N690K 2070C>A PACA-CA 7 38781699 38781699 single base substitution G T missense_variant N715K 2145C>A PACA-CA 7 38781886 38781886 single base substitution G T intron_variant PACA-CA 7 38786590 38786590 single base substitution G A intron_variant PACA-CA 7 38786590 38786590 single base substitution G A upstream_gene_variant PACA-CA 7 38789622 38789622 single base substitution A G intron_variant PACA-CA 7 38789622 38789622 single base substitution A G upstream_gene_variant PACA-CA 7 38791821 38791821 single base substitution G C missense_variant N602K 1806C>G PACA-CA 7 38791821 38791821 single base substitution G C missense_variant N627K 1881C>G PACA-CA 7 38791835 38791835 single base substitution A G missense_variant Y598H 1792T>C PACA-CA 7 38791835 38791835 single base substitution A G missense_variant Y623H 1867T>C PACA-CA 7 38796521 38796521 single base substitution C A downstream_gene_variant PACA-CA 7 38796521 38796521 single base substitution C A missense_variant D513Y 1537G>T PACA-CA 7 38796521 38796521 single base substitution C A missense_variant D538Y 1612G>T PACA-CA 7 38799497 38799497 single base substitution G T intron_variant PACA-CA 7 38802103 38802103 single base substitution G T intron_variant PACA-CA 7 38803959 38803959 single base substitution A C intron_variant PACA-CA 7 38804770 38804770 single base substitution G A intron_variant PACA-CA 7 38805093 38805093 single base substitution A G intron_variant PACA-CA 7 38809555 38809555 single base substitution G A downstream_gene_variant PACA-CA 7 38809555 38809555 single base substitution G A intron_variant PACA-CA 7 38809555 38809555 single base substitution G A upstream_gene_variant PACA-CA 7 38810110 38810110 single base substitution A T downstream_gene_variant PACA-CA 7 38810110 38810110 single base substitution A T intron_variant PACA-CA 7 38810110 38810110 single base substitution A T upstream_gene_variant PACA-CA 7 38810992 38810992 single base substitution G C downstream_gene_variant PACA-CA 7 38810992 38810992 single base substitution G C intron_variant PACA-CA 7 38813664 38813664 single base substitution G A downstream_gene_variant PACA-CA 7 38813664 38813664 single base substitution G A intron_variant PACA-CA 7 38816004 38816004 single base substitution A G intron_variant PACA-CA 7 38816004 38816004 single base substitution A G upstream_gene_variant PACA-CA 7 38816050 38816050 deletion of <=200bp A - intron_variant PACA-CA 7 38816050 38816050 deletion of <=200bp A - upstream_gene_variant PACA-CA 7 38823586 38823586 single base substitution T A intron_variant PACA-CA 7 38825052 38825052 single base substitution T A intron_variant PACA-CA 7 38826077 38826077 single base substitution G A intron_variant PACA-CA 7 38826993 38826993 single base substitution A C intron_variant PACA-CA 7 38830343 38830343 single base substitution G T downstream_gene_variant PACA-CA 7 38830343 38830343 single base substitution G T intron_variant PACA-CA 7 38834106 38834106 single base substitution A G downstream_gene_variant PACA-CA 7 38834106 38834106 single base substitution A G intron_variant PACA-CA 7 38835022 38835022 single base substitution A T downstream_gene_variant PACA-CA 7 38835022 38835022 single base substitution A T intron_variant PACA-CA 7 38839770 38839770 single base substitution C T intron_variant PACA-CA 7 38839770 38839770 single base substitution C T upstream_gene_variant PACA-CA 7 38842940 38842940 single base substitution C T intron_variant PACA-CA 7 38852305 38852305 single base substitution C A intron_variant PACA-CA 7 38853482 38853482 single base substitution G A downstream_gene_variant PACA-CA 7 38853482 38853482 single base substitution G A intron_variant PACA-CA 7 38855019 38855019 single base substitution G A downstream_gene_variant PACA-CA 7 38855019 38855019 single base substitution G A intron_variant PACA-CA 7 38856996 38856996 single base substitution G C downstream_gene_variant PACA-CA 7 38856996 38856996 single base substitution G C intron_variant PACA-CA 7 38857942 38857942 single base substitution C T downstream_gene_variant PACA-CA 7 38857942 38857942 single base substitution C T intron_variant PACA-CA 7 38863598 38863598 single base substitution T C intron_variant PACA-CA 7 38867673 38867673 insertion of <=200bp - A intron_variant PACA-CA 7 38870006 38870006 single base substitution A G intron_variant PACA-CA 7 38870276 38870276 deletion of <=200bp A - intron_variant PACA-CA 7 38871294 38871294 single base substitution A C intron_variant PACA-CA 7 38871294 38871294 single base substitution A C upstream_gene_variant PACA-CA 7 38874706 38874706 single base substitution G A intron_variant PACA-CA 7 38874706 38874706 single base substitution G A upstream_gene_variant PACA-CA 7 38877463 38877463 insertion of <=200bp - A intron_variant PACA-CA 7 38878637 38878637 single base substitution G A intron_variant PACA-CA 7 38878869 38878869 single base substitution A T intron_variant PACA-CA 7 38880469 38880469 single base substitution G A intron_variant PACA-CA 7 38880823 38880823 single base substitution G A intron_variant PACA-CA 7 38884578 38884578 single base substitution C G intron_variant PACA-CA 7 38888818 38888818 single base substitution G A intron_variant PACA-CA 7 38896653 38896653 single base substitution A G intron_variant PACA-CA 7 38898199 38898199 single base substitution C A intron_variant PACA-CA 7 38901114 38901114 single base substitution A T intron_variant PACA-CA 7 38902183 38902183 single base substitution G C exon_variant PACA-CA 7 38902183 38902183 single base substitution G C missense_variant L20V 58C>G PACA-CA 7 38902183 38902183 single base substitution G C missense_variant L57V 169C>G PACA-CA 7 38902183 38902183 single base substitution G C missense_variant L70V 208C>G PACA-CA 7 38906371 38906371 single base substitution C G intron_variant PACA-CA 7 38909435 38909435 single base substitution C T intron_variant PACA-CA 7 38913366 38913366 single base substitution A G intron_variant PACA-CA 7 38915096 38915096 single base substitution G A intron_variant PACA-CA 7 38915441 38915441 single base substitution G T intron_variant PACA-CA 7 38918839 38918839 single base substitution G A intron_variant PACA-CA 7 38921868 38921868 single base substitution G C intron_variant PACA-CA 7 38923397 38923397 single base substitution G C intron_variant PACA-CA 7 38927517 38927517 single base substitution T A intron_variant PACA-CA 7 38931661 38931661 single base substitution G C intron_variant PACA-CA 7 38931933 38931933 single base substitution A G intron_variant PACA-CA 7 38934519 38934519 single base substitution A T intron_variant PACA-CA 7 38938577 38938577 single base substitution T G intron_variant PACA-CA 7 38939165 38939165 single base substitution C T intron_variant PACA-CA 7 38939262 38939262 deletion of <=200bp G - intron_variant PACA-CA 7 38945276 38945276 single base substitution G A intron_variant PACA-CA 7 38945320 38945320 deletion of <=200bp A - intron_variant PACA-CA 7 38946007 38946007 single base substitution C T intron_variant PACA-CA 7 38946263 38946263 single base substitution G C intron_variant PACA-CA 7 38957963 38957963 single base substitution A G intron_variant PACA-CA 7 38960795 38960795 single base substitution G A intron_variant PACA-CA 7 38962186 38962186 single base substitution C T intron_variant PACA-CA 7 38962271 38962271 single base substitution C T intron_variant PACA-CA 7 38964428 38964428 insertion of <=200bp - A intron_variant PACA-CA 7 38966935 38966935 single base substitution G T intron_variant PACA-CA 7 38969215 38969215 single base substitution T C intron_variant PACA-CA 7 38969215 38969215 single base substitution T C upstream_gene_variant PACA-CA 7 38969694 38969694 single base substitution G A intron_variant PACA-CA 7 38969694 38969694 single base substitution G A upstream_gene_variant PACA-CA 7 38969734 38969734 single base substitution C T intron_variant PACA-CA 7 38969734 38969734 single base substitution C T upstream_gene_variant PACA-CA 7 38972152 38972152 single base substitution A T upstream_gene_variant PACA-CA 7 38975697 38975706 deletion of <=200bp GTTTTACCAT - upstream_gene_variant PACA-CA 7 38975757 38975757 single base substitution G A upstream_gene_variant PAEN-AU 7 38817968 38817968 single base substitution G A intron_variant PAEN-AU 7 38817968 38817968 single base substitution G A upstream_gene_variant PAEN-AU 7 38836896 38836897 deletion of <=200bp TC - intron_variant PAEN-AU 7 38836896 38836897 deletion of <=200bp TC - upstream_gene_variant PAEN-AU 7 38853453 38853453 single base substitution C G downstream_gene_variant PAEN-AU 7 38853453 38853453 single base substitution C G intron_variant PAEN-AU 7 38877607 38877607 single base substitution T G intron_variant PAEN-AU 7 38895011 38895011 single base substitution G C intron_variant PAEN-AU 7 38912164 38912164 single base substitution A G intron_variant PAEN-AU 7 38957304 38957304 single base substitution C G intron_variant PAEN-AU 7 38972993 38972993 single base substitution T C upstream_gene_variant PAEN-IT 7 38786732 38786732 single base substitution G T intron_variant PAEN-IT 7 38786732 38786732 single base substitution G T upstream_gene_variant PAEN-IT 7 38820263 38820263 single base substitution C T intron_variant PAEN-IT 7 38820263 38820263 single base substitution C T upstream_gene_variant PAEN-IT 7 38846166 38846166 single base substitution T C intron_variant PAEN-IT 7 38868522 38868522 single base substitution T C intron_variant PAEN-IT 7 38869680 38869680 single base substitution G A intron_variant PAEN-IT 7 38907140 38907140 single base substitution C A intron_variant PAEN-IT 7 38941695 38941695 single base substitution C A intron_variant PAEN-IT 7 38969444 38969444 single base substitution G T intron_variant PAEN-IT 7 38969444 38969444 single base substitution G T upstream_gene_variant PBCA-DE 7 38758709 38758709 deletion of <=200bp C - downstream_gene_variant PBCA-DE 7 38758924 38758924 single base substitution C T downstream_gene_variant PBCA-DE 7 38763473 38763473 single base substitution C T 3_prime_UTR_variant PBCA-DE 7 38763473 38763473 single base substitution C T downstream_gene_variant PBCA-DE 7 38764623 38764623 single base substitution C A 3_prime_UTR_variant PBCA-DE 7 38764623 38764623 single base substitution C A downstream_gene_variant PBCA-DE 7 38790118 38790118 single base substitution C T intron_variant PBCA-DE 7 38790118 38790118 single base substitution C T upstream_gene_variant PBCA-DE 7 38790688 38790688 single base substitution G A intron_variant PBCA-DE 7 38792984 38792984 single base substitution C T intron_variant PBCA-DE 7 38794638 38794638 single base substitution T A downstream_gene_variant PBCA-DE 7 38794638 38794638 single base substitution T A intron_variant PBCA-DE 7 38796127 38796127 single base substitution G A downstream_gene_variant PBCA-DE 7 38796127 38796127 single base substitution G A intron_variant PBCA-DE 7 38820755 38820755 insertion of <=200bp - A intron_variant PBCA-DE 7 38826204 38826204 single base substitution C A intron_variant PBCA-DE 7 38837911 38837912 deletion of <=200bp GA - intron_variant PBCA-DE 7 38837911 38837912 deletion of <=200bp GA - upstream_gene_variant PBCA-DE 7 38851197 38851198 deletion of <=200bp AC - intron_variant PBCA-DE 7 38865304 38865304 single base substitution A G intron_variant PBCA-DE 7 38878932 38878932 single base substitution C T intron_variant PBCA-DE 7 38882692 38882692 single base substitution G A intron_variant PBCA-DE 7 38884998 38884998 single base substitution G A intron_variant PBCA-DE 7 38917380 38917380 single base substitution T C intron_variant PBCA-DE 7 38920647 38920647 single base substitution C T intron_variant PBCA-DE 7 38937017 38937017 single base substitution G A intron_variant PBCA-DE 7 38944763 38944763 single base substitution G T intron_variant PBCA-DE 7 38949401 38949401 single base substitution T A intron_variant PBCA-DE 7 38949401 38949401 single base substitution T A upstream_gene_variant PBCA-DE 7 38950047 38950047 insertion of <=200bp - TCC intron_variant PBCA-DE 7 38950047 38950047 insertion of <=200bp - TCC upstream_gene_variant PBCA-DE 7 38950056 38950056 single base substitution G C intron_variant PBCA-DE 7 38950056 38950056 single base substitution G C upstream_gene_variant PBCA-DE 7 38950061 38950066 deletion of <=200bp TGAGAC - intron_variant PBCA-DE 7 38950061 38950066 deletion of <=200bp TGAGAC - upstream_gene_variant PBCA-DE 7 38951318 38951318 single base substitution C A intron_variant PBCA-DE 7 38951318 38951318 single base substitution C A upstream_gene_variant PBCA-DE 7 38954549 38954549 single base substitution C G intron_variant PBCA-DE 7 38955348 38955348 single base substitution C T intron_variant PBCA-DE 7 38957408 38957408 single base substitution G T intron_variant PBCA-DE 7 38966197 38966197 deletion of <=200bp A - intron_variant PBCA-DE 7 38966464 38966464 single base substitution G A intron_variant PBCA-DE 7 38967327 38967327 single base substitution C T intron_variant PBCA-DE 7 38974387 38974388 deletion of <=200bp CA - upstream_gene_variant PRAD-CA 7 38770187 38770187 single base substitution A T intron_variant PRAD-CA 7 38770187 38770187 single base substitution A T upstream_gene_variant PRAD-CA 7 38772575 38772575 single base substitution G A intron_variant PRAD-CA 7 38784533 38784533 single base substitution C A intron_variant PRAD-CA 7 38811393 38811393 single base substitution C A downstream_gene_variant PRAD-CA 7 38811393 38811393 single base substitution C A intron_variant PRAD-CA 7 38865479 38865479 single base substitution C A intron_variant PRAD-CA 7 38874666 38874666 single base substitution T A intron_variant PRAD-CA 7 38874666 38874666 single base substitution T A upstream_gene_variant PRAD-CA 7 38916355 38916355 single base substitution T C intron_variant PRAD-CA 7 38923879 38923879 single base substitution T C intron_variant PRAD-CA 7 38924749 38924749 single base substitution C T intron_variant PRAD-CA 7 38926141 38926141 single base substitution G A intron_variant PRAD-CA 7 38929173 38929173 single base substitution A C intron_variant PRAD-CA 7 38929264 38929264 single base substitution C T intron_variant PRAD-CA 7 38955554 38955554 single base substitution G A intron_variant PRAD-CA 7 38967587 38967587 single base substitution C T intron_variant PRAD-CA 7 38968637 38968637 single base substitution A G intron_variant PRAD-UK 7 38759091 38759091 single base substitution T A downstream_gene_variant PRAD-UK 7 38772510 38772510 single base substitution C G intron_variant PRAD-UK 7 38778444 38778444 single base substitution A C downstream_gene_variant PRAD-UK 7 38778444 38778444 single base substitution A C intron_variant PRAD-UK 7 38796039 38796039 single base substitution T C downstream_gene_variant PRAD-UK 7 38796039 38796039 single base substitution T C intron_variant PRAD-UK 7 38803463 38803463 single base substitution G C intron_variant PRAD-UK 7 38811593 38811593 single base substitution G T downstream_gene_variant PRAD-UK 7 38811593 38811593 single base substitution G T intron_variant PRAD-UK 7 38818781 38818781 single base substitution C T intron_variant PRAD-UK 7 38818781 38818781 single base substitution C T upstream_gene_variant PRAD-UK 7 38825319 38825319 single base substitution C G intron_variant PRAD-UK 7 38837375 38837375 single base substitution G A intron_variant PRAD-UK 7 38837375 38837375 single base substitution G A upstream_gene_variant PRAD-UK 7 38838718 38838718 single base substitution G A intron_variant PRAD-UK 7 38838718 38838718 single base substitution G A upstream_gene_variant PRAD-UK 7 38843661 38843676 deletion of <=200bp GACAAAATGTTGGTAC - intron_variant PRAD-UK 7 38848547 38848547 single base substitution G A intron_variant PRAD-UK 7 38854062 38854062 deletion of <=200bp A - downstream_gene_variant PRAD-UK 7 38854062 38854062 deletion of <=200bp A - intron_variant PRAD-UK 7 38860981 38860981 single base substitution C T intron_variant PRAD-UK 7 38862884 38862884 single base substitution C A intron_variant PRAD-UK 7 38876095 38876095 single base substitution C A intron_variant PRAD-UK 7 38878993 38878993 single base substitution T C intron_variant PRAD-UK 7 38881716 38881716 single base substitution T A intron_variant PRAD-UK 7 38900630 38900630 single base substitution G A intron_variant PRAD-UK 7 38903941 38903941 insertion of <=200bp - T intron_variant PRAD-UK 7 38907848 38907848 single base substitution G A intron_variant PRAD-UK 7 38917319 38917319 single base substitution A G intron_variant PRAD-UK 7 38925450 38925450 single base substitution A T intron_variant PRAD-UK 7 38926300 38926300 single base substitution C T intron_variant PRAD-UK 7 38930226 38930226 single base substitution G A intron_variant PRAD-UK 7 38936854 38936854 single base substitution T G intron_variant PRAD-UK 7 38941359 38941359 single base substitution G C intron_variant PRAD-UK 7 38942657 38942657 single base substitution C A intron_variant PRAD-UK 7 38958729 38958729 single base substitution T G intron_variant PRAD-UK 7 38967298 38967298 single base substitution C T intron_variant PRAD-UK 7 38972752 38972752 single base substitution T C upstream_gene_variant PRAD-UK 7 38973404 38973404 single base substitution G A upstream_gene_variant PRAD-US 7 38807200 38807200 single base substitution T C downstream_gene_variant PRAD-US 7 38807200 38807200 single base substitution T C splice_acceptor_variant PRAD-US 7 38807200 38807200 single base substitution T C upstream_gene_variant PRAD-US 7 38829422 38829422 single base substitution G A exon_variant PRAD-US 7 38829422 38829422 single base substitution G A missense_variant P230S 688C>T PRAD-US 7 38829422 38829422 single base substitution G A missense_variant P255S 763C>T READ-US 7 38768321 38768321 single base substitution C T exon_variant READ-US 7 38768321 38768321 single base substitution C T missense_variant R752Q 2255G>A READ-US 7 38768321 38768321 single base substitution C T missense_variant R777Q 2330G>A READ-US 7 38768321 38768321 single base substitution C T upstream_gene_variant READ-US 7 38768330 38768330 single base substitution T G exon_variant READ-US 7 38768330 38768330 single base substitution T G missense_variant K749T 2246A>C READ-US 7 38768330 38768330 single base substitution T G missense_variant K774T 2321A>C READ-US 7 38768330 38768330 single base substitution T G upstream_gene_variant RECA-EU 7 38777277 38777277 single base substitution T A downstream_gene_variant RECA-EU 7 38777277 38777277 single base substitution T A intron_variant RECA-EU 7 38781533 38781533 single base substitution A C intron_variant RECA-EU 7 38782194 38782194 single base substitution T G intron_variant RECA-EU 7 38784636 38784636 single base substitution A T intron_variant RECA-EU 7 38786775 38786775 single base substitution C G intron_variant RECA-EU 7 38786775 38786775 single base substitution C G upstream_gene_variant RECA-EU 7 38792786 38792786 single base substitution T C intron_variant RECA-EU 7 38799393 38799393 single base substitution G T intron_variant RECA-EU 7 38807578 38807578 single base substitution A G downstream_gene_variant RECA-EU 7 38807578 38807578 single base substitution A G intron_variant RECA-EU 7 38807578 38807578 single base substitution A G upstream_gene_variant RECA-EU 7 38814365 38814365 single base substitution C T intron_variant RECA-EU 7 38825626 38825626 single base substitution A G intron_variant RECA-EU 7 38827233 38827233 single base substitution A C intron_variant RECA-EU 7 38834800 38834800 single base substitution G C downstream_gene_variant RECA-EU 7 38834800 38834800 single base substitution G C intron_variant RECA-EU 7 38842595 38842595 single base substitution G C intron_variant RECA-EU 7 38844065 38844065 single base substitution G C intron_variant RECA-EU 7 38845367 38845367 single base substitution A G intron_variant RECA-EU 7 38862092 38862092 single base substitution T A intron_variant RECA-EU 7 38862732 38862732 single base substitution C T intron_variant RECA-EU 7 38869922 38869922 single base substitution C T exon_variant RECA-EU 7 38869922 38869922 single base substitution C T intron_variant RECA-EU 7 38869922 38869922 single base substitution C T missense_variant V11M 31G>A RECA-EU 7 38869922 38869922 single base substitution C T missense_variant V35M 103G>A RECA-EU 7 38869922 38869922 single base substitution C T missense_variant V72M 214G>A RECA-EU 7 38869922 38869922 single base substitution C T missense_variant V85M 253G>A RECA-EU 7 38890399 38890399 single base substitution C T intron_variant RECA-EU 7 38891003 38891003 single base substitution A G intron_variant RECA-EU 7 38896123 38896123 single base substitution A T intron_variant RECA-EU 7 38908778 38908778 single base substitution C T 5_prime_UTR_variant RECA-EU 7 38908778 38908778 single base substitution C T exon_variant RECA-EU 7 38908778 38908778 single base substitution C T missense_variant D33N 97G>A RECA-EU 7 38908778 38908778 single base substitution C T missense_variant D46N 136G>A RECA-EU 7 38930303 38930303 single base substitution A T intron_variant RECA-EU 7 38932487 38932487 single base substitution T A intron_variant RECA-EU 7 38945371 38945371 single base substitution T A intron_variant RECA-EU 7 38946931 38946931 single base substitution A G intron_variant RECA-EU 7 38949017 38949017 single base substitution A T intron_variant RECA-EU 7 38949017 38949017 single base substitution A T upstream_gene_variant RECA-EU 7 38950641 38950641 single base substitution C A intron_variant RECA-EU 7 38950641 38950641 single base substitution C A upstream_gene_variant RECA-EU 7 38970827 38970827 single base substitution C T intron_variant RECA-EU 7 38970827 38970827 single base substitution C T upstream_gene_variant SKCA-BR 7 38759369 38759369 single base substitution T A downstream_gene_variant SKCA-BR 7 38760080 38760080 insertion of <=200bp - TTTA downstream_gene_variant SKCA-BR 7 38760083 38760083 insertion of <=200bp - ATTATT downstream_gene_variant SKCA-BR 7 38760084 38760084 insertion of <=200bp - TTATTA downstream_gene_variant SKCA-BR 7 38760084 38760084 insertion of <=200bp - TTATTATA downstream_gene_variant SKCA-BR 7 38760086 38760086 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 7 38760087 38760092 deletion of <=200bp TATATA - downstream_gene_variant SKCA-BR 7 38760087 38760100 deletion of <=200bp TATATATATATATA - downstream_gene_variant SKCA-BR 7 38760100 38760100 insertion of <=200bp - ATGTGTG downstream_gene_variant SKCA-BR 7 38760158 38760158 single base substitution G A downstream_gene_variant SKCA-BR 7 38760614 38760614 single base substitution G A downstream_gene_variant SKCA-BR 7 38760952 38760952 single base substitution T C downstream_gene_variant SKCA-BR 7 38763060 38763060 single base substitution T C 3_prime_UTR_variant SKCA-BR 7 38763060 38763060 single base substitution T C downstream_gene_variant SKCA-BR 7 38764204 38764204 insertion of <=200bp - CTTTTCTTTTTTTT 3_prime_UTR_variant SKCA-BR 7 38764204 38764204 insertion of <=200bp - CTTTTCTTTTTTTT downstream_gene_variant SKCA-BR 7 38764258 38764258 insertion of <=200bp - ATC 3_prime_UTR_variant SKCA-BR 7 38764258 38764258 insertion of <=200bp - ATC downstream_gene_variant SKCA-BR 7 38764271 38764271 single base substitution A C 3_prime_UTR_variant SKCA-BR 7 38764271 38764271 single base substitution A C downstream_gene_variant SKCA-BR 7 38770040 38770040 single base substitution G C intron_variant SKCA-BR 7 38770040 38770040 single base substitution G C upstream_gene_variant SKCA-BR 7 38774135 38774135 single base substitution T A intron_variant SKCA-BR 7 38775547 38775547 single base substitution G A intron_variant SKCA-BR 7 38778018 38778018 single base substitution A G downstream_gene_variant SKCA-BR 7 38778018 38778018 single base substitution A G intron_variant SKCA-BR 7 38781132 38781132 single base substitution A G intron_variant SKCA-BR 7 38781892 38781892 single base substitution A G intron_variant SKCA-BR 7 38787164 38787164 single base substitution C T intron_variant SKCA-BR 7 38787164 38787164 single base substitution C T upstream_gene_variant SKCA-BR 7 38788956 38788956 single base substitution G A intron_variant SKCA-BR 7 38788956 38788956 single base substitution G A upstream_gene_variant SKCA-BR 7 38796633 38796633 single base substitution A G downstream_gene_variant SKCA-BR 7 38796633 38796633 single base substitution A G intron_variant SKCA-BR 7 38796775 38796775 single base substitution C T downstream_gene_variant SKCA-BR 7 38796775 38796775 single base substitution C T intron_variant SKCA-BR 7 38803520 38803520 single base substitution G A intron_variant SKCA-BR 7 38803521 38803521 single base substitution G A intron_variant SKCA-BR 7 38804213 38804213 single base substitution G A intron_variant SKCA-BR 7 38809340 38809340 single base substitution C T downstream_gene_variant SKCA-BR 7 38809340 38809340 single base substitution C T intron_variant SKCA-BR 7 38809340 38809340 single base substitution C T upstream_gene_variant SKCA-BR 7 38811462 38811462 single base substitution G A downstream_gene_variant SKCA-BR 7 38811462 38811462 single base substitution G A intron_variant SKCA-BR 7 38812393 38812393 single base substitution G A downstream_gene_variant SKCA-BR 7 38812393 38812393 single base substitution G A intron_variant SKCA-BR 7 38814159 38814159 single base substitution G A intron_variant SKCA-BR 7 38816112 38816112 single base substitution G A intron_variant SKCA-BR 7 38816112 38816112 single base substitution G A upstream_gene_variant SKCA-BR 7 38818632 38818632 single base substitution A T intron_variant SKCA-BR 7 38818632 38818632 single base substitution A T upstream_gene_variant SKCA-BR 7 38819759 38819759 single base substitution G A intron_variant SKCA-BR 7 38819759 38819759 single base substitution G A upstream_gene_variant SKCA-BR 7 38819760 38819760 single base substitution G A intron_variant SKCA-BR 7 38819760 38819760 single base substitution G A upstream_gene_variant SKCA-BR 7 38823199 38823199 single base substitution A G intron_variant SKCA-BR 7 38826095 38826095 single base substitution G A intron_variant SKCA-BR 7 38826996 38826996 single base substitution G A intron_variant SKCA-BR 7 38829826 38829826 single base substitution G A intron_variant SKCA-BR 7 38829857 38829857 single base substitution G A intron_variant SKCA-BR 7 38831170 38831170 single base substitution C A downstream_gene_variant SKCA-BR 7 38831170 38831170 single base substitution C A intron_variant SKCA-BR 7 38831171 38831171 single base substitution C A downstream_gene_variant SKCA-BR 7 38831171 38831171 single base substitution C A intron_variant SKCA-BR 7 38831447 38831447 insertion of <=200bp - AG downstream_gene_variant SKCA-BR 7 38831447 38831447 insertion of <=200bp - AG intron_variant SKCA-BR 7 38834257 38834257 single base substitution C T downstream_gene_variant SKCA-BR 7 38834257 38834257 single base substitution C T intron_variant SKCA-BR 7 38838517 38838517 single base substitution G A intron_variant SKCA-BR 7 38838517 38838517 single base substitution G A upstream_gene_variant SKCA-BR 7 38838659 38838659 single base substitution G T intron_variant SKCA-BR 7 38838659 38838659 single base substitution G T upstream_gene_variant SKCA-BR 7 38843131 38843131 single base substitution A T intron_variant SKCA-BR 7 38844223 38844223 single base substitution G A intron_variant SKCA-BR 7 38845138 38845138 single base substitution A C intron_variant SKCA-BR 7 38845898 38845898 single base substitution C T intron_variant SKCA-BR 7 38847845 38847847 deletion of <=200bp ATT - intron_variant SKCA-BR 7 38852786 38852786 single base substitution A T downstream_gene_variant SKCA-BR 7 38852786 38852786 single base substitution A T intron_variant SKCA-BR 7 38853717 38853717 single base substitution G A downstream_gene_variant SKCA-BR 7 38853717 38853717 single base substitution G A intron_variant SKCA-BR 7 38858201 38858201 single base substitution G A downstream_gene_variant SKCA-BR 7 38858201 38858201 single base substitution G A intron_variant SKCA-BR 7 38859626 38859626 single base substitution A C downstream_gene_variant SKCA-BR 7 38859626 38859626 single base substitution A C intron_variant SKCA-BR 7 38860546 38860546 insertion of <=200bp - CGT downstream_gene_variant SKCA-BR 7 38860546 38860546 insertion of <=200bp - CGT intron_variant SKCA-BR 7 38862979 38862979 single base substitution G A intron_variant SKCA-BR 7 38863523 38863523 single base substitution T A intron_variant SKCA-BR 7 38866781 38866781 single base substitution G A intron_variant SKCA-BR 7 38867980 38867980 single base substitution G A intron_variant SKCA-BR 7 38868302 38868302 single base substitution G A intron_variant SKCA-BR 7 38874877 38874877 single base substitution T C intron_variant SKCA-BR 7 38874877 38874877 single base substitution T C upstream_gene_variant SKCA-BR 7 38877582 38877582 single base substitution G A intron_variant SKCA-BR 7 38878757 38878759 deletion of <=200bp TCA - intron_variant SKCA-BR 7 38881622 38881622 single base substitution A C intron_variant SKCA-BR 7 38884706 38884706 single base substitution G T intron_variant SKCA-BR 7 38884712 38884712 single base substitution C T intron_variant SKCA-BR 7 38888368 38888368 single base substitution A C intron_variant SKCA-BR 7 38892742 38892742 single base substitution G A intron_variant SKCA-BR 7 38894452 38894452 single base substitution A G intron_variant SKCA-BR 7 38896471 38896471 single base substitution A G intron_variant SKCA-BR 7 38899115 38899115 single base substitution A T intron_variant SKCA-BR 7 38903783 38903783 single base substitution G A intron_variant SKCA-BR 7 38907606 38907606 single base substitution G A intron_variant SKCA-BR 7 38909079 38909079 single base substitution A C intron_variant SKCA-BR 7 38910092 38910092 single base substitution G A intron_variant SKCA-BR 7 38915342 38915342 single base substitution G A intron_variant SKCA-BR 7 38924780 38924780 single base substitution T C intron_variant SKCA-BR 7 38928554 38928554 single base substitution T G intron_variant SKCA-BR 7 38929159 38929161 deletion of <=200bp CAA - intron_variant SKCA-BR 7 38932133 38932133 single base substitution A G intron_variant SKCA-BR 7 38937244 38937245 deletion of <=200bp CA - intron_variant SKCA-BR 7 38937262 38937263 deletion of <=200bp AG - intron_variant SKCA-BR 7 38938856 38938856 single base substitution C A intron_variant SKCA-BR 7 38939994 38939994 single base substitution G A intron_variant SKCA-BR 7 38942248 38942248 single base substitution C G intron_variant SKCA-BR 7 38942880 38942880 single base substitution G A intron_variant SKCA-BR 7 38943283 38943283 single base substitution G T intron_variant SKCA-BR 7 38948976 38948976 single base substitution G A intron_variant SKCA-BR 7 38948976 38948976 single base substitution G A upstream_gene_variant SKCA-BR 7 38949424 38949424 single base substitution T C intron_variant SKCA-BR 7 38949424 38949424 single base substitution T C upstream_gene_variant SKCA-BR 7 38950050 38950050 single base substitution G A intron_variant SKCA-BR 7 38950050 38950050 single base substitution G A upstream_gene_variant SKCA-BR 7 38952340 38952340 single base substitution C T intron_variant SKCA-BR 7 38952340 38952340 single base substitution C T upstream_gene_variant SKCA-BR 7 38954007 38954007 single base substitution T C intron_variant SKCA-BR 7 38954119 38954119 single base substitution C T intron_variant SKCA-BR 7 38954149 38954149 single base substitution A C intron_variant SKCA-BR 7 38955726 38955726 single base substitution C T intron_variant SKCA-BR 7 38956961 38956961 single base substitution G A intron_variant SKCA-BR 7 38957827 38957827 single base substitution C A intron_variant SKCA-BR 7 38961107 38961107 single base substitution C T intron_variant SKCA-BR 7 38961511 38961511 single base substitution C T intron_variant SKCA-BR 7 38963852 38963852 single base substitution A G intron_variant SKCA-BR 7 38964220 38964220 single base substitution A G intron_variant SKCA-BR 7 38964395 38964395 single base substitution G A intron_variant SKCA-BR 7 38964622 38964622 single base substitution G A intron_variant SKCA-BR 7 38964773 38964773 single base substitution G A intron_variant SKCA-BR 7 38965390 38965390 single base substitution G A intron_variant SKCA-BR 7 38966409 38966409 insertion of <=200bp - TTTTTCTTTTC intron_variant SKCA-BR 7 38966409 38966409 insertion of <=200bp - TTTTTCTTTTCTTTTCTTTTC intron_variant SKCA-BR 7 38967240 38967240 single base substitution T G intron_variant SKCA-BR 7 38968104 38968104 single base substitution C T intron_variant SKCA-BR 7 38968105 38968105 single base substitution C T intron_variant SKCA-BR 7 38968730 38968730 single base substitution C T intron_variant SKCA-BR 7 38974386 38974386 insertion of <=200bp - GCACACA upstream_gene_variant SKCA-BR 7 38975234 38975235 deletion of <=200bp GT - upstream_gene_variant SKCA-BR 7 38975713 38975713 single base substitution C A upstream_gene_variant SKCA-BR 7 38976437 38976437 insertion of <=200bp - GT upstream_gene_variant SKCM-US 7 38766521 38766521 single base substitution G A 3_prime_UTR_variant SKCM-US 7 38766521 38766521 single base substitution G A exon_variant SKCM-US 7 38766521 38766521 single base substitution G A synonymous_variant P799P 2397C>T SKCM-US 7 38766521 38766521 single base substitution G A synonymous_variant P824P 2472C>T SKCM-US 7 38766557 38766557 single base substitution G A 3_prime_UTR_variant SKCM-US 7 38766557 38766557 single base substitution G A exon_variant SKCM-US 7 38766557 38766557 single base substitution G A synonymous_variant F787F 2361C>T SKCM-US 7 38766557 38766557 single base substitution G A synonymous_variant F812F 2436C>T SKCM-US 7 38768147 38768147 single base substitution G A exon_variant SKCM-US 7 38768147 38768147 single base substitution G A missense_variant P775L 2324C>T SKCM-US 7 38768147 38768147 single base substitution G A missense_variant P800L 2399C>T SKCM-US 7 38768147 38768147 single base substitution G A upstream_gene_variant SKCM-US 7 38768159 38768159 single base substitution G A exon_variant SKCM-US 7 38768159 38768159 single base substitution G A missense_variant S771F 2312C>T SKCM-US 7 38768159 38768159 single base substitution G A missense_variant S796F 2387C>T SKCM-US 7 38768159 38768159 single base substitution G A upstream_gene_variant SKCM-US 7 38768163 38768163 single base substitution G A exon_variant SKCM-US 7 38768163 38768163 single base substitution G A missense_variant L770F 2308C>T SKCM-US 7 38768163 38768163 single base substitution G A missense_variant L795F 2383C>T SKCM-US 7 38768163 38768163 single base substitution G A upstream_gene_variant SKCM-US 7 38781671 38781671 single base substitution G A exon_variant SKCM-US 7 38781671 38781671 single base substitution G A synonymous_variant L66L 196C>T SKCM-US 7 38781671 38781671 single base substitution G A synonymous_variant L700L 2098C>T SKCM-US 7 38781671 38781671 single base substitution G A synonymous_variant L725L 2173C>T SKCM-US 7 38783015 38783015 single base substitution G A exon_variant SKCM-US 7 38783015 38783015 single base substitution G A synonymous_variant S44S 132C>T SKCM-US 7 38783015 38783015 single base substitution G A synonymous_variant S678S 2034C>T SKCM-US 7 38783015 38783015 single base substitution G A synonymous_variant S703S 2109C>T SKCM-US 7 38785191 38785191 single base substitution C T exon_variant SKCM-US 7 38785191 38785191 single base substitution C T missense_variant R625K 1874G>A SKCM-US 7 38785191 38785191 single base substitution C T missense_variant R650K 1949G>A SKCM-US 7 38785191 38785191 single base substitution C T upstream_gene_variant SKCM-US 7 38791813 38791813 single base substitution G A missense_variant P605L 1814C>T SKCM-US 7 38791813 38791813 single base substitution G A missense_variant P630L 1889C>T SKCM-US 7 38797964 38797964 single base substitution G A downstream_gene_variant SKCM-US 7 38797964 38797964 single base substitution G A synonymous_variant L489L 1465C>T SKCM-US 7 38797964 38797964 single base substitution G A synonymous_variant L514L 1540C>T SKCM-US 7 38812206 38812206 single base substitution G A downstream_gene_variant SKCM-US 7 38812206 38812206 single base substitution G A exon_variant SKCM-US 7 38812206 38812206 single base substitution G A synonymous_variant I323I 969C>T SKCM-US 7 38812206 38812206 single base substitution G A synonymous_variant I348I 1044C>T SKCM-US 7 38813801 38813801 single base substitution G A exon_variant SKCM-US 7 38813801 38813801 single base substitution G A missense_variant P284L 851C>T SKCM-US 7 38813801 38813801 single base substitution G A missense_variant P309L 926C>T SKCM-US 7 38829439 38829439 single base substitution C T exon_variant SKCM-US 7 38829439 38829439 single base substitution C T missense_variant S224N 671G>A SKCM-US 7 38829439 38829439 single base substitution C T missense_variant S249N 746G>A SKCM-US 7 38857430 38857430 single base substitution G A downstream_gene_variant SKCM-US 7 38857430 38857430 single base substitution G A exon_variant SKCM-US 7 38857430 38857430 single base substitution G A missense_variant T121I 362C>T SKCM-US 7 38857430 38857430 single base substitution G A missense_variant T133I 398C>T SKCM-US 7 38857430 38857430 single base substitution G A missense_variant T146I 437C>T SKCM-US 7 38857430 38857430 single base substitution G A missense_variant T72I 215C>T SKCM-US 7 38857430 38857430 single base substitution G A missense_variant T96I 287C>T SKCM-US 7 38857459 38857459 single base substitution G A downstream_gene_variant SKCM-US 7 38857459 38857459 single base substitution G A exon_variant SKCM-US 7 38857459 38857459 single base substitution G A synonymous_variant F111F 333C>T SKCM-US 7 38857459 38857459 single base substitution G A synonymous_variant F123F 369C>T SKCM-US 7 38857459 38857459 single base substitution G A synonymous_variant F136F 408C>T SKCM-US 7 38857459 38857459 single base substitution G A synonymous_variant F62F 186C>T SKCM-US 7 38857459 38857459 single base substitution G A synonymous_variant F86F 258C>T SKCM-US 7 38948800 38948800 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 7 38948800 38948800 single base substitution G A intron_variant SKCM-US 7 38948800 38948800 single base substitution G A upstream_gene_variant STAD-US 7 38765894 38765894 single base substitution A G 3_prime_UTR_variant STAD-US 7 38765894 38765894 single base substitution A G downstream_gene_variant STAD-US 7 38765894 38765894 single base substitution A G exon_variant STAD-US 7 38765894 38765894 single base substitution A G synonymous_variant S814S 2442T>C STAD-US 7 38765894 38765894 single base substitution A G synonymous_variant S839S 2517T>C STAD-US 7 38783011 38783011 single base substitution C T exon_variant STAD-US 7 38783011 38783011 single base substitution C T missense_variant D46N 136G>A STAD-US 7 38783011 38783011 single base substitution C T missense_variant D680N 2038G>A STAD-US 7 38783011 38783011 single base substitution C T missense_variant D705N 2113G>A STAD-US 7 38783072 38783072 single base substitution G A exon_variant STAD-US 7 38783072 38783072 single base substitution G A synonymous_variant I25I 75C>T STAD-US 7 38783072 38783072 single base substitution G A synonymous_variant I659I 1977C>T STAD-US 7 38783072 38783072 single base substitution G A synonymous_variant I684I 2052C>T STAD-US 7 38791835 38791835 single base substitution A T missense_variant Y598N 1792T>A STAD-US 7 38791835 38791835 single base substitution A T missense_variant Y623N 1867T>A STAD-US 7 38791871 38791871 single base substitution G A missense_variant R586C 1756C>T STAD-US 7 38791871 38791871 single base substitution G A missense_variant R611C 1831C>T STAD-US 7 38794339 38794339 single base substitution A C downstream_gene_variant STAD-US 7 38794339 38794339 single base substitution A C missense_variant V559G 1676T>G STAD-US 7 38794339 38794339 single base substitution A C missense_variant V584G 1751T>G STAD-US 7 38796580 38796580 single base substitution T C downstream_gene_variant STAD-US 7 38796580 38796580 single base substitution T C missense_variant Y493C 1478A>G STAD-US 7 38796580 38796580 single base substitution T C missense_variant Y518C 1553A>G STAD-US 7 38798010 38798010 single base substitution C T exon_variant STAD-US 7 38798010 38798010 single base substitution C T synonymous_variant R473R 1419G>A STAD-US 7 38798010 38798010 single base substitution C T synonymous_variant R498R 1494G>A STAD-US 7 38810820 38810820 deletion of <=200bp T - downstream_gene_variant STAD-US 7 38810820 38810820 deletion of <=200bp T - frameshift_variant N363 STAD-US 7 38810820 38810820 deletion of <=200bp T - frameshift_variant N388 STAD-US 7 38908811 38908811 single base substitution G T 5_prime_UTR_variant STAD-US 7 38908811 38908811 single base substitution G T exon_variant STAD-US 7 38908811 38908811 single base substitution G T missense_variant L22I 64C>A STAD-US 7 38908811 38908811 single base substitution G T missense_variant L35I 103C>A THCA-SA 7 38764168 38764168 single base substitution T C 3_prime_UTR_variant THCA-SA 7 38764168 38764168 single base substitution T C downstream_gene_variant UCEC-US 7 38768382 38768382 single base substitution G A exon_variant UCEC-US 7 38768382 38768382 single base substitution G A missense_variant R732C 2194C>T UCEC-US 7 38768382 38768382 single base substitution G A missense_variant R757C 2269C>T UCEC-US 7 38768382 38768382 single base substitution G A upstream_gene_variant UCEC-US 7 38783071 38783071 single base substitution C T exon_variant UCEC-US 7 38783071 38783071 single base substitution C T missense_variant E26K 76G>A UCEC-US 7 38783071 38783071 single base substitution C T missense_variant E660K 1978G>A UCEC-US 7 38783071 38783071 single base substitution C T missense_variant E685K 2053G>A UCEC-US 7 38791798 38791798 single base substitution C A missense_variant S610I 1829G>T UCEC-US 7 38791798 38791798 single base substitution C A missense_variant S635I 1904G>T UCEC-US 7 38796553 38796553 single base substitution G T downstream_gene_variant UCEC-US 7 38796553 38796553 single base substitution G T missense_variant A502D 1505C>A UCEC-US 7 38796553 38796553 single base substitution G T missense_variant A527D 1580C>A UCEC-US 7 38796567 38796567 single base substitution C T downstream_gene_variant UCEC-US 7 38796567 38796567 single base substitution C T synonymous_variant K497K 1491G>A UCEC-US 7 38796567 38796567 single base substitution C T synonymous_variant K522K 1566G>A UCEC-US 7 38805193 38805193 single base substitution A C exon_variant UCEC-US 7 38805193 38805193 single base substitution A C missense_variant I414S 1241T>G UCEC-US 7 38805193 38805193 single base substitution A C missense_variant I439S 1316T>G UCEC-US 7 38813752 38813752 single base substitution T C downstream_gene_variant UCEC-US 7 38813752 38813752 single base substitution T C exon_variant UCEC-US 7 38813752 38813752 single base substitution T C synonymous_variant R300R 900A>G UCEC-US 7 38813752 38813752 single base substitution T C synonymous_variant R325R 975A>G UCEC-US 7 38816314 38816314 single base substitution C T exon_variant UCEC-US 7 38816314 38816314 single base substitution C T missense_variant V258I 772G>A UCEC-US 7 38816314 38816314 single base substitution C T missense_variant V283I 847G>A UCEC-US 7 38816314 38816314 single base substitution C T upstream_gene_variant UCEC-US 7 38857473 38857473 single base substitution C T downstream_gene_variant UCEC-US 7 38857473 38857473 single base substitution C T exon_variant UCEC-US 7 38857473 38857473 single base substitution C T missense_variant V107M 319G>A UCEC-US 7 38857473 38857473 single base substitution C T missense_variant V119M 355G>A UCEC-US 7 38857473 38857473 single base substitution C T missense_variant V132M 394G>A UCEC-US 7 38857473 38857473 single base substitution C T missense_variant V58M 172G>A UCEC-US 7 38857473 38857473 single base substitution C T missense_variant V82M 244G>A UCEC-US 7 38902155 38902155 single base substitution T A exon_variant UCEC-US 7 38902155 38902155 single base substitution T A missense_variant K29M 86A>T UCEC-US 7 38902155 38902155 single base substitution T A missense_variant K66M 197A>T UCEC-US 7 38902155 38902155 single base substitution T A missense_variant K79M 236A>T UCEC-US 7 38937711 38937711 single base substitution C A 5_prime_UTR_variant UCEC-US 7 38937711 38937711 single base substitution C A exon_variant UCEC-US 7 38937711 38937711 single base substitution C A intron_variant UCEC-US 7 38937711 38937711 single base substitution C A stop_gained E14* 40G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BS-A0UF-01 COSM1089492 c.1566G>A p.K522K Substitution - coding silent 7:38756967-38756967 - HCC130T COSM1622837 c.508G>A p.G170R Substitution - Missense 7:38796807-38796807 - T55 COSM4740561 c.2471C>A p.P824H Substitution - Missense 7:38726922-38726922 - T3225 COSM4740565 c.651G>A p.M217I Substitution - Missense 7:38795531-38795531 - RK095_C01 COSM3703225 c.2244A>G p.Q748Q Substitution - coding silent 7:38742000-38742000 - SW403 COSM4655405 c.974G>T p.R325I Substitution - Missense 7:38774153-38774153 - YUCLAT COSM1686026 c.2387C>T p.S796F Substitution - Missense 7:38728559-38728559 - STC263 COSM5062454 c.2165A>G p.D722G Substitution - Missense 7:38742079-38742079 - LUAD-RT-S01831 COSM384505 c.227T>G p.I76S Substitution - Missense 7:38862564-38862564 - S02299 COSM5690877 c.2230G>T p.V744F Substitution - Missense 7:38742014-38742014 - B COSM3728512 c.301G>A p.V101M Substitution - Missense 7:38830274-38830274 - TCGA-CM-4746-01 COSM1450624 c.1615G>A p.V539I Substitution - Missense 7:38756918-38756918 - RK190_C01 COSM3768365 c.2260-5A>T p.? Unknown 7:38728796-38728796 - TCGA-AN-A046-01 COSM187339 c.1264C>A p.L422I Substitution - Missense 7:38765645-38765645 - tumor_4163639 COSM1161678 c.823G>A p.A275T Substitution - Missense 7:38776738-38776738 - YUZEAL COSM1686026 c.2387C>T p.S796F Substitution - Missense 7:38728559-38728559 - ESCC_30 COSM5541592 c.1888C>T p.P630S Substitution - Missense 7:38752214-38752214 - LS174T COSM3229327 c.2293G>A p.V765I Substitution - Missense 7:38728758-38728758 - I2L-P19Ta-Tumor-Organoid COSM5358058 c.1530A>G p.L510L Substitution - coding silent 7:38758374-38758374 - TCGA-F5-6814-01 COSM3431587 c.2321A>C p.K774T Substitution - Missense 7:38728730-38728730 - TCGA-HU-A4GU-01 COSM3880911 c.103C>A p.L35I Substitution - Missense 7:38869211-38869211 - TCGA-AZ-6598-01 COSM1450627 c.1163_1164insA p.N388fs*3 Insertion - Frameshift 7:38771219-38771220 - NCI-H226 COSM746958 c.2330G>A p.R777Q Substitution - Missense 7:38728721-38728721 - MD-285 COSM303550 c.1088A>G p.D363G Substitution - Missense 7:38772562-38772562 - tumor_4163639 COSM1161679 c.805T>C p.F269L Substitution - Missense 7:38776756-38776756 - 01-P8014 COSM4587386 c.2527C>G p.R843G Substitution - Missense 7:38726284-38726284 - RK131_C01 COSM3703227 c.1161A>G p.K387K Substitution - coding silent 7:38771222-38771222 - RK095_C01 COSM3703223 c.2259+3A>C p.? Unknown 7:38741982-38741982 - GC_370T-GC_370N COSM4773063 c.1584G>T p.L528L Substitution - coding silent 7:38756949-38756949 - CHC892T COSM4796632 c.443G>A p.G148E Substitution - Missense 7:38817824-38817824 - 6115118 COSM5573217 c.321+1G>C p.? Unknown 7:38830253-38830253 - TCGA-FS-A1ZA-06 COSM3638584 c.1540C>T p.L514L Substitution - coding silent 7:38758364-38758364 - 2011-2338:2012-306-T COSM4604730 c.2122C>T p.P708S Substitution - Missense 7:38743402-38743402 - TCGA-EE-A2MT-06 COSM3638583 c.1949G>A p.R650K Substitution - Missense 7:38745591-38745591 - A9 COSM5351415 c.2178G>T p.L726L Substitution - coding silent 7:38742066-38742066 - HCC2998 COSM1673123 c.851T>G p.L284R Substitution - Missense 7:38776710-38776710 - TCGA-BP-4971-01 COSM485310 c.426G>T p.K142N Substitution - Missense 7:38817841-38817841 - WSU-HN13 COSM4603485 c.881_882insA p.E295fs*9 Insertion - Frameshift 7:38776679-38776680 - RK200_C01 COSM3768366 c.361G>T p.E121* Substitution - Nonsense 7:38821226-38821226 - TCGA-AA-3713-01 COSM3229346 c.1163delA p.N388fs*15 Deletion - Frameshift 7:38771220-38771220 - TCGA-A5-A0VQ-01 COSM1089495 c.847G>A p.V283I Substitution - Missense 7:38776714-38776714 - 2011-2346:2012-301-T COSM3788274 c.2145C>A p.N715K Substitution - Missense 7:38742099-38742099 - 549 COSM5613011 c.2550G>A p.L850L Substitution - coding silent 7:38726261-38726261 - 587316 COSM1089487 c.2269C>T p.R757C Substitution - Missense 7:38728782-38728782 - pfg014T COSM1643334 c.283A>T p.S95C Substitution - Missense 7:38830292-38830292 - LS180 COSM3229327 c.2293G>A p.V765I Substitution - Missense 7:38728758-38728758 - TCGA-F5-6814-01 COSM746958 c.2330G>A p.R777Q Substitution - Missense 7:38728721-38728721 - TCGA-D3-A2JH-06 COSM3638582 c.2109C>T p.S703S Substitution - coding silent 7:38743415-38743415 - T207 COSM4740567 c.318delC p.K107fs*31 Deletion - Frameshift 7:38830257-38830257 - TCGA-AO-A03N-01 COSM453025 c.1228G>A p.D410N Substitution - Missense 7:38767556-38767556 - Gp5D COSM3229363 c.302T>C p.V101A Substitution - Missense 7:38830273-38830273 - 266 COSM98121 c.2198G>C p.G733A Substitution - Missense 7:38742046-38742046 - TCGA-B0-5113-01 COSM485311 c.33C>T p.S11S Substitution - coding silent 7:38898118-38898118 - C086 COSM5541592 c.1888C>T p.P630S Substitution - Missense 7:38752214-38752214 - ESCC_151 COSM5645266 c.1824G>A p.K608K Substitution - coding silent 7:38752278-38752278 - TCGA-19-1390-01 COSM3412027 c.835G>A p.D279N Substitution - Missense 7:38776726-38776726 - TP_2001 COSM5568846 c.2379G>A p.S793S Substitution - coding silent 7:38728567-38728567 - TCGA-02-2485-01 COSM3412028 c.688C>G p.L230V Substitution - Missense 7:38795494-38795494 - HCC20 COSM1622836 c.1423-5G>T p.? Unknown 7:38758486-38758486 - 1517_CLM COSM5757045 c.2405-2A>G p.? Unknown 7:38726990-38726990 - YUROG COSM5407462 c.561C>T p.A187A Substitution - coding silent 7:38796754-38796754 - TCGA-D3-A51R-06 COSM108439 c.408C>T p.F136F Substitution - coding silent 7:38817859-38817859 - RKO COSM3229346 c.1163delA p.N388fs*15 Deletion - Frameshift 7:38771220-38771220 - TCGA-AA-A010-01 COSM299622 c.1162A>T p.N388Y Substitution - Missense 7:38771221-38771221 - TCGA-AZ-4315-01 COSM1450621 c.2114A>G p.D705G Substitution - Missense 7:38743410-38743410 - I2L-P19Ta-Tumor-Organoid COSM5357869 c.570+8delA p.? Unknown 7:38796737-38796737 - PD4952a COSM5787954 c.2507A>G p.N836S Substitution - Missense 7:38726304-38726304 - PCSI_0547_Pa_P_526 COSM5031979 c.1881C>G p.N627K Substitution - Missense 7:38752221-38752221 - TCGA-EE-A3J5-06 COSM3638588 c.437C>T p.T146I Substitution - Missense 7:38817830-38817830 - pfg181T COSM4753177 c.1897C>T p.R633* Substitution - Nonsense 7:38752205-38752205 - T3262 COSM1450627 c.1163_1164insA p.N388fs*3 Insertion - Frameshift 7:38771219-38771220 - TCGA-FS-A1YY-06 COSM3638586 c.926C>T p.P309L Substitution - Missense 7:38774201-38774201 - TCGA-AU-6004-01 COSM1450625 c.1614C>T p.D538D Substitution - coding silent 7:38756919-38756919 - RK095_C01 COSM3703224 c.2254T>G p.L752V Substitution - Missense 7:38741990-38741990 - TCGA-B6-A0RV-01 COSM453024 c.1566G>C p.K522N Substitution - Missense 7:38756967-38756967 - TCGA-FW-A3R5-06 COSM3923597 c.2383C>T p.L795F Substitution - Missense 7:38728563-38728563 - TCGA-AZ-6607-01 COSM1450626 c.1375C>T p.L459F Substitution - Missense 7:38763502-38763502 - 721T COSM4382054 c.2186G>A p.R729H Substitution - Missense 7:38742058-38742058 - BD235T COSM5501613 c.854C>G p.S285W Substitution - Missense 7:38776707-38776707 - 12T COSM108439 c.408C>T p.F136F Substitution - coding silent 7:38817859-38817859 - PCSI_0547_Pa_P_526 COSM5031982 c.1867T>C p.Y623H Substitution - Missense 7:38752235-38752235 - TCGA-HT-7482-01 COSM1450625 c.1614C>T p.D538D Substitution - coding silent 7:38756919-38756919 - PDA_030 COSM4999442 c.2182C>G p.H728D Substitution - Missense 7:38742062-38742062 - T43 COSM5345341 c.2139G>T p.L713F Substitution - Missense 7:38742105-38742105 - LUAD-S01315 COSM345969 c.645A>G p.P215P Substitution - coding silent 7:38795537-38795537 - HCC20T COSM1622836 c.1423-5G>T p.? Unknown 7:38758486-38758486 - TCGA-76-6282-01 COSM3412026 c.1449G>T p.W483C Substitution - Missense 7:38758455-38758455 - TCGA-EE-A181-06 COSM3229335 c.1889C>T p.P630L Substitution - Missense 7:38752213-38752213 - XHDG35 COSM4769546 c.2484+9G>A p.? Unknown 7:38726900-38726900 - TCGA-F1-6874-01 COSM3880910 c.1494G>A p.R498R Substitution - coding silent 7:38758410-38758410 - tumor_4104893 COSM3358136 c.1832G>A p.R611H Substitution - Missense 7:38752270-38752270 - S02384 COSM5698554 c.1629C>T p.I543I Substitution - coding silent 7:38756904-38756904 - LC_C21 COSM1187283 c.1870G>T p.D624Y Substitution - Missense 7:38752232-38752232 - PCSI_0083_Pa_P_526 COSM3381919 c.1612G>T p.D538Y Substitution - Missense 7:38756921-38756921 - HX16T COSM1622834 c.2184C>A p.H728Q Substitution - Missense 7:38742060-38742060 - ACA17 COSM5961544 c.1044C>G p.I348M Substitution - Missense 7:38772606-38772606 - TCGA-AX-A0J0-01 COSM1089497 c.236A>T p.K79M Substitution - Missense 7:38862555-38862555 - TCGA-34-5234-01 COSM746951 c.49G>C p.D17H Substitution - Missense 7:38898102-38898102 - TCGA-B5-A11O-01 COSM1089493 c.1316T>G p.I439S Substitution - Missense 7:38765593-38765593 - RK056_C01 COSM1635301 c.1923A>G p.E641E Substitution - coding silent 7:38752179-38752179 - PT35 COSM4753177 c.1897C>T p.R633* Substitution - Nonsense 7:38752205-38752205 - TCGA-GN-A266-06 COSM3638581 c.2399C>T p.P800L Substitution - Missense 7:38728547-38728547 - TCGA-CA-6717-01 COSM108439 c.408C>T p.F136F Substitution - coding silent 7:38817859-38817859 - C086 COSM5541591 c.1264C>T p.L422F Substitution - Missense 7:38765645-38765645 - Au4 COSM5605324 c.725C>T p.S242L Substitution - Missense 7:38789860-38789860 - T3446 COSM4740562 c.2261T>C p.I754T Substitution - Missense 7:38728790-38728790 - TCGA-43-2578-01 COSM746956 c.1927G>T p.A643S Substitution - Missense 7:38745613-38745613 - SNUH_G26_S1 COSM3685164 c.1581T>C p.A527A Substitution - coding silent 7:38756952-38756952 - SS6003303 COSM3665286 c.73G>A p.E25K Substitution - Missense 7:38869241-38869241 - 587342 COSM1232390 c.1987A>G p.M663V Substitution - Missense 7:38743537-38743537 - YULAD COSM5407461 c.918C>T p.I306I Substitution - coding silent 7:38774209-38774209 - PD6732b COSM5768972 c.1423-9T>C p.? Unknown 7:38758490-38758490 - LUAD-NYU315 COSM373702 c.1723G>A p.E575K Substitution - Missense 7:38754909-38754909 - PT13 COSM5895933 c.1580C>T p.A527V Substitution - Missense 7:38756953-38756953 - TCGA-D3-A2J8-06 COSM3638585 c.1044C>T p.I348I Substitution - coding silent 7:38772606-38772606 - ESCC_13 COSM5345341 c.2139G>T p.L713F Substitution - Missense 7:38742105-38742105 - TCGA-KK-A59V-01 COSM4878103 c.763C>T p.P255S Substitution - Missense 7:38789822-38789822 - HN_00761 COSM128469 c.93G>A p.K31K Substitution - coding silent 7:38869221-38869221 - HCC4T COSM1622835 c.1884A>G p.L628L Substitution - coding silent 7:38752218-38752218 - TCGA-BS-A0U7-01 COSM1089488 c.2115C>T p.D705D Substitution - coding silent 7:38743409-38743409 - HCC130 COSM1622837 c.508G>A p.G170R Substitution - Missense 7:38796807-38796807 - PCSI_0124_Pa_X COSM3788274 c.2145C>A p.N715K Substitution - Missense 7:38742099-38742099 - TCGA-AZ-4315-01 COSM1450629 c.854C>T p.S285L Substitution - Missense 7:38776707-38776707 - HCC61 COSM1622833 c.2449A>G p.M817V Substitution - Missense 7:38726944-38726944 - BD121T COSM1089489 c.2053G>A p.E685K Substitution - Missense 7:38743471-38743471 - Br27P COSM40753 c.1830G>A p.Q610Q Substitution - coding silent 7:38752272-38752272 - TCGA-BP-5190-01 COSM485308 c.1349C>G p.P450R Substitution - Missense 7:38763528-38763528 - M010 COSM1739325 c.1604G>A p.R535K Substitution - Missense 7:38756929-38756929 - TCGA-AD-6889-01 COSM1450628 c.880_881insA p.T294fs*10 Insertion - Frameshift 7:38776680-38776681 - CSCC-16-T COSM4570217 c.2452T>C p.F818L Substitution - Missense 7:38726941-38726941 - TCGA-AP-A059-01 COSM1089490 c.1904G>T p.S635I Substitution - Missense 7:38752198-38752198 - TCGA-CG-5721-01 COSM3880904 c.2517T>C p.S839S Substitution - coding silent 7:38726294-38726294 - RK088_C01 COSM3703226 c.1466A>G p.N489S Substitution - Missense 7:38758438-38758438 - J90_T COSM3950499 c.1656C>G p.I552M Substitution - Missense 7:38756877-38756877 - TCGA-60-2726-01 COSM746954 c.1247G>A p.R416H Substitution - Missense 7:38767537-38767537 - RK089_C01 COSM1635300 c.2009T>C p.L670P Substitution - Missense 7:38743515-38743515 - HCC2998 COSM1673123 c.851T>G p.L284R Substitution - Missense 7:38776710-38776710 - TCGA-EE-A29E-06 COSM108439 c.408C>T p.F136F Substitution - coding silent 7:38817859-38817859 - CSCC-57-T COSM4447464 c.321+3A>G p.? Unknown 7:38830251-38830251 - TCGA-EE-A3J5-06 COSM3638587 c.746G>A p.S249N Substitution - Missense 7:38789839-38789839 - TCGA-CD-8535-01 COSM3880905 c.2113G>A p.D705N Substitution - Missense 7:38743411-38743411 - Pat_59_B COSM5872677 c.704G>A p.G235E Substitution - Missense 7:38795478-38795478 - TCGA-B5-A0JY-01 COSM1089498 c.40G>T p.E14* Substitution - Nonsense 7:38898111-38898111 - 587350 COSM1232389 c.622C>T p.R208W Substitution - Missense 7:38795560-38795560 - T3535 COSM4740566 c.392C>A p.A131D Substitution - Missense 7:38817875-38817875 - 8058339 COSM3394738 c.2360-1G>A p.? Unknown 7:38728587-38728587 - WA16 COSM242227 c.2209C>T p.P737S Substitution - Missense 7:38742035-38742035 - TCGA-A4-7585-01 COSM3995575 c.2075A>T p.D692V Substitution - Missense 7:38743449-38743449 - 824_T COSM3950500 c.580A>T p.I194F Substitution - Missense 7:38795602-38795602 - TCGA-85-6561-01 COSM746953 c.287G>T p.G96V Substitution - Missense 7:38830288-38830288 - HCC4 COSM1622835 c.1884A>G p.L628L Substitution - coding silent 7:38752218-38752218 - TCGA-DA-A1I0-06 COSM1686026 c.2387C>T p.S796F Substitution - Missense 7:38728559-38728559 - TCGA-HC-A6AL-01 COSM3674931 c.1186-2A>G p.? Unknown 7:38767600-38767600 - TCGA-60-2708-01 COSM746958 c.2330G>A p.R777Q Substitution - Missense 7:38728721-38728721 - TCGA-E2-A56Z-01 COSM3665286 c.73G>A p.E25K Substitution - Missense 7:38869241-38869241 - CLL103 COSM1292500 c.1248-1G>T p.? Unknown 7:38765662-38765662 - PTC-14C COSM4162198 c.1898G>T p.R633L Substitution - Missense 7:38752204-38752204 - TCGA-BG-A0VZ-01 COSM1089494 c.975A>G p.R325R Substitution - coding silent 7:38774152-38774152 - TCGA-A7-A56D-01 COSM3832754 c.1492C>A p.R498R Substitution - coding silent 7:38758412-38758412 - DU-145 COSM1673122 c.2192A>T p.K731M Substitution - Missense 7:38742052-38742052 - T2643 COSM4740564 c.820C>T p.L274F Substitution - Missense 7:38776741-38776741 - S02244 COSM5678305 c.1591T>C p.Y531H Substitution - Missense 7:38756942-38756942 - TCGA-AP-A051-01 COSM1089491 c.1580C>A p.A527D Substitution - Missense 7:38756953-38756953 - RK035_C01 COSM1635302 c.631A>G p.I211V Substitution - Missense 7:38795551-38795551 - T3724 COSM3229322 c.2378C>T p.S793L Substitution - Missense 7:38728568-38728568 - TCGA-AA-A00N-01 COSM278101 c.1492C>T p.R498W Substitution - Missense 7:38758412-38758412 - TCGA-D9-A1JW-06 COSM3923598 c.2173C>T p.L725L Substitution - coding silent 7:38742071-38742071 - TCGA-C8-A12X-01 COSM453023 c.2281A>G p.K761E Substitution - Missense 7:38728770-38728770 - H226 COSM746958 c.2330G>A p.R777Q Substitution - Missense 7:38728721-38728721 - PD4601a COSM165517 c.2221G>T p.D741Y Substitution - Missense 7:38742023-38742023 - TCGA-BR-8372-01 COSM3880908 c.1751T>G p.V584G Substitution - Missense 7:38754739-38754739 - CSCC-5-T COSM4471701 c.1736C>T p.S579L Substitution - Missense 7:38754896-38754896 - LUAD-5V8LT COSM402873 c.79G>T p.E27* Substitution - Nonsense 7:38869235-38869235 - 12T COSM109917 c.1630C>T p.H544Y Substitution - Missense 7:38756903-38756903 - SNUH_G15_S1 COSM3685165 c.304T>G p.C102G Substitution - Missense 7:38830271-38830271 - 585258 COSM324261 c.325C>T p.Q109* Substitution - Nonsense 7:38821262-38821262 - S00934 COSM5662921 c.1996A>T p.S666C Substitution - Missense 7:38743528-38743528 - 587224 COSM1232388 c.2506A>G p.N836D Substitution - Missense 7:38726305-38726305 - Gp2D COSM3229363 c.302T>C p.V101A Substitution - Missense 7:38830273-38830273 - pfg076T COSM4753181 c.1079G>A p.R360Q Substitution - Missense 7:38772571-38772571 - C0012T COSM4155743 c.136G>A p.D46N Substitution - Missense 7:38869178-38869178 - LUAD-YKER9 COSM352216 c.1271A>G p.K424R Substitution - Missense 7:38765638-38765638 - LUAD-RT-S01477 COSM377707 c.89T>C p.L30P Substitution - Missense 7:38869225-38869225 - PCSI_0083_Pa_P COSM3381919 c.1612G>T p.D538Y Substitution - Missense 7:38756921-38756921 - T3724 COSM4740563 c.830T>G p.L277R Substitution - Missense 7:38776731-38776731 - 587226 COSM1232387 c.1831C>T p.R611C Substitution - Missense 7:38752271-38752271 - TCGA-B0-4700-01 COSM485307 c.2384T>C p.L795P Substitution - Missense 7:38728562-38728562 - I2L-P19Tb-Tumor-Organoid COSM5358205 c.2185C>T p.R729C Substitution - Missense 7:38742059-38742059 - LUAD-F00162 COSM366646 c.347G>C p.G116A Substitution - Missense 7:38821240-38821240 - TCGA-BR-8680-01 COSM1232387 c.1831C>T p.R611C Substitution - Missense 7:38752271-38752271 - HN_62646 COSM130172 c.2459A>G p.K820R Substitution - Missense 7:38726934-38726934 - TCGA-AA-3672-01 COSM267750 c.1650T>C p.S550S Substitution - coding silent 7:38756883-38756883 - TCGA-13-1510-01 COSM118981 c.1128+1G>A p.? Unknown 7:38772521-38772521 - TCGA-BR-8680-01 COSM3880909 c.1553A>G p.Y518C Substitution - Missense 7:38756980-38756980 - 46 COSM5734308 c.1321C>T p.Q441* Substitution - Nonsense 7:38765588-38765588 - HN_62338 COSM130173 c.1487C>A p.A496E Substitution - Missense 7:38758417-38758417 - I2L-P19Ta-Tumor-Biopsy COSM5358058 c.1530A>G p.L510L Substitution - coding silent 7:38758374-38758374 - CHC892T COSM4796632 c.443G>A p.G148E Substitution - Missense 7:38817824-38817824 - TCGA-BR-8487-01 COSM3880906 c.2052C>T p.I684I Substitution - coding silent 7:38743472-38743472 - TCGA-BT-A3PH-01 COSM1313072 c.352G>C p.E118Q Substitution - Missense 7:38821235-38821235 - TCGA-GN-A26C-01 COSM3638580 c.2436C>T p.F812F Substitution - coding silent 7:38726957-38726957 - SJAMLM7016 COSM4776089 c.72C>T p.S24S Substitution - coding silent 7:38869242-38869242 - TCGA-B5-A11N-01 COSM1089487 c.2269C>T p.R757C Substitution - Missense 7:38728782-38728782 - TCGA-D1-A17D-01 COSM1089496 c.394G>A p.V132M Substitution - Missense 7:38817873-38817873 - TCGA-IR-A3LA-01 COSM1313072 c.352G>C p.E118Q Substitution - Missense 7:38821235-38821235 - SJAMLM7016 COSM4776089 c.72C>T p.S24S Substitution - coding silent 7:38869242-38869242 - PD4613a COSM5768436 c.2263C>A p.L755M Substitution - Missense 7:38728788-38728788 - 12M COSM5577852 c.1716G>A p.L572L Substitution - coding silent 7:38754916-38754916 - LUAD-CHTN-MAD06-00668 COSM360298 c.1924A>C p.K642Q Substitution - Missense 7:38752178-38752178 - LC_S6 COSM1190790 c.47delC p.T16fs*15 Deletion - Frameshift 7:38898104-38898104 - 1517_PT COSM5757045 c.2405-2A>G p.? Unknown 7:38726990-38726990 - TCGA-FW-A3R5-06 COSM3923596 c.2472C>T p.P824P Substitution - coding silent 7:38726921-38726921 - I2L-P19Ta-Tumor-Biopsy COSM5357869 c.570+8delA p.? Unknown 7:38796737-38796737 - TCGA-EK-A3GN-01 COSM4854637 c.1270A>G p.K424E Substitution - Missense 7:38765639-38765639 - S02299 COSM5690878 c.322-1G>A p.? Unknown 7:38821266-38821266 - TCGA-AX-A0J0-01 COSM1089489 c.2053G>A p.E685K Substitution - Missense 7:38743471-38743471 - PCSI_0083_Pa_X COSM3381919 c.1612G>T p.D538Y Substitution - Missense 7:38756921-38756921 - TCGA-BR-A4CS-01 COSM3880907 c.1867T>A p.Y623N Substitution - Missense 7:38752235-38752235 - TCGA-AO-A03M-01 COSM3832755 c.163G>T p.D55Y Substitution - Missense 7:38869151-38869151 - sysucc-311T COSM5467133 c.1738-9T>G p.? Unknown 7:38754761-38754761 - Gp2D COSM4628638 c.719T>C p.V240A Substitution - Missense 7:38789866-38789866 - CHEWS030 COSM4587387 c.1213C>T p.L405L Substitution - coding silent 7:38767571-38767571 - PD5928a COSM5771668 c.1456G>A p.D486N Substitution - Missense 7:38758448-38758448 - LUAD-S01341 COSM396786 c.2290C>G p.L764V Substitution - Missense 7:38728761-38728761 - TCGA-A3-3363-01 COSM1496605 c.1789-2A>T p.? Unknown 7:38752315-38752315 - ESCC_BICR_020T COSM5429260 c.2476C>T p.P826S Substitution - Missense 7:38726917-38726917 - TCGA-22-4599-01 COSM746952 c.87G>T p.K29N Substitution - Missense 7:38869227-38869227 - RK228_C01 COSM4944798 c.156A>C p.T52T Substitution - coding silent 7:38869158-38869158 - C0100T COSM4155742 c.253G>A p.V85M Substitution - Missense 7:38830322-38830322 - HX13T COSM1622835 c.1884A>G p.L628L Substitution - coding silent 7:38752218-38752218 - 5_tFL COSM4171656 c.1574G>A p.G525D Substitution - Missense 7:38756959-38756959 - 587298 COSM1232391 c.2363A>G p.E788G Substitution - Missense 7:38728583-38728583 - LUAD-S00488 COSM395379 c.1247G>T p.R416L Substitution - Missense 7:38767537-38767537 - ZZUFHECRKL-G045T COSM5438019 c.1384G>T p.E462* Substitution - Nonsense 7:38763493-38763493 - T3094 COSM3229346 c.1163delA p.N388fs*15 Deletion - Frameshift 7:38771220-38771220 - HCC61T COSM1622833 c.2449A>G p.M817V Substitution - Missense 7:38726944-38726944 - TCGA-AB-2859-03 COSM1318985 c.758A>T p.D253V Substitution - Missense 7:38789827-38789827 - WA57 COSM242228 c.1922A>G p.E641G Substitution - Missense 7:38752180-38752180 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.592184 7p14-p13 605485 2391405|CGAP|BC044851|A/T|coding|Leu659His|1996|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I439S c.1316T>G 7 38805193 UCEC A C Synonymous p.A840A c.2520T>G 7 38765891 HNSC A G Missense p.F269L c.805T>C 7 38816356 DLBCL A G Missense p.L670P c.2009T>C 7 38783115 HC A G Missense p.V355A c.1064T>C 7 38812186 HNSC A - IntronicDeletion . c.2260-17delT 7 38768408 ESCA C A Missense p.A275S c.823G>T 7 38816338 LUAD C A Missense p.A643S c.1927G>T 7 38785213 LUSC C A Missense p.D741Y c.2221G>T 7 38781623 BRCA C A Missense p.G96V c.287G>T 7 38869888 LUSC C A Missense p.K142N c.426G>T 7 38857441 RCCC C A Missense p.K29N c.87G>T 7 38908827 LUSC C A Missense p.M217I c.651G>T 7 38835131 HNSC C A Missense p.W483C c.1449G>T 7 38798055 GBM C A SpliceAcceptorSNV . c.1248-1G>T 7 38805262 CLL CC AA MultiAAMissense p.M99_G100delinsIC c.297_298delinsTT 7 38869877 CM C G Missense p.D17H c.49G>C 7 38937702 LUSC C G Missense p.E118Q c.352G>C 7 38860835 BLCA C G Missense p.E371Q c.1111G>C 7 38812139 HNSC C G Missense p.E565Q c.1693G>C 7 38796440 HNSC C G Missense p.E655Q c.1963G>C 7 38785177 HNSC C G Missense p.K522N c.1566G>C 7 38796567 BRCA C G Missense p.R757P c.2270G>C 7 38768381 LUAD C T Missense p.A275T c.823G>A 7 38816338 DLBCL C T Missense p.D17N c.49G>A 7 38937702 LUAD C T Missense p.D279N c.835G>A 7 38816326 GBM C T Missense p.D410N c.1228G>A 7 38807156 BRCA C T Missense p.D624N c.1870G>A 7 38791832 STAD C T Missense p.E641K c.1921G>A 7 38791781 LUAD C T Missense p.R416H c.1247G>A 7 38807137 LUSC C T Missense p.R650K c.1949G>A 7 38785191 CM C T Missense p.R777Q c.2330G>A 7 38768321 LUSC C T Missense p.S249N c.746G>A 7 38829439 CM C T Missense p.V132M c.394G>A 7 38857473 UCEC C T Missense p.V283I c.847G>A 7 38816314 UCEC C T SpliceDonorSNV . c.1128+1G>A 7 38812121 OV C T Synonymous p.K31K c.93G>A 7 38908821 HNSC C T Synonymous p.K522K c.1566G>A 7 38796567 HNSC C T Synonymous p.R498R c.1494G>A 7 38798010 STAD G A 5-UTRSNV . c.1-31C>T 7 38948805 CM G A Missense p.A669V c.2006C>T 7 38783118 LUAD G A Missense p.L784F c.2350C>T 7 38768301 CM G A Missense p.P309L c.926C>T 7 38813801 CM G A Missense p.P630L c.1889C>T 7 38791813 CM G A Missense p.P639S c.1915C>T 7 38791787 LUAD G A Missense p.P800L c.2399C>T 7 38768147 CM G A Missense p.S291L c.872C>T 7 38816289 RCCC G A Missense p.S796F c.2387C>T 7 38768159 CM G A Missense p.T146I c.437C>T 7 38857430 CM G A Nonsense p.Q109* c.325C>T 7 38860862 SCLC G A Synonymous p.D538D c.1614C>T 7 38796519 LGG G A Synonymous p.F812F c.2436C>T 7 38766557 CM G A Synonymous p.I348I c.1044C>T 7 38812206 CM G A Synonymous p.L514L c.1540C>T 7 38797964 CM G A Synonymous p.L725L c.2173C>T 7 38781671 CM G A Synonymous p.L747L c.2239C>T 7 38781605 CM G A Synonymous p.Q610Q c.1830G>A 7 38791872 GBM G A Synonymous p.S703S c.2109C>T 7 38783015 CM G C Missense p.D196E c.588C>G 7 38835194 CM G C Missense p.L230V c.688C>G 7 38835094 GBM G C Missense p.P450R c.1349C>G 7 38803128 RCCC GG AA SpliceAcceptorBlockSubstitution . c.1983_1984delinsTT 7 38783140 CM G T Missense p.A496E c.1487C>A 7 38798017 HNSC G T Missense p.N715K c.2145C>A 7 38781699 HNSC T A IntronicSNV . c.1927-294A>T 7 38785507 HC T A Missense p.S95C c.283A>T 7 38869892 STAD T C 3-UTRSNV . c.2562+2294A>G 7 38763555 HC T C Missense p.I211V c.631A>G 7 38835151 HC T C Missense p.K761E c.2281A>G 7 38768370 BRCA T C Missense p.K820R c.2459A>G 7 38766534 HNSC T C SpliceAcceptorSNV . c.1186-2A>G 7 38807200 PRAD T C Synonymous p.E641E c.1923A>G 7 38791779 HC T C Synonymous p.R325R c.975A>G 7 38813752 UCEC