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 ACC 3 195594805 195594805 + Silent SNP A A G TCGA-OR-A5JB-01A-11D-A29I-10 TCGA-OR-A5JB-10A-01D-A29L-10 g.chr3:195594805A>G c.2319T>C c.(2317-2319)gcT>gcC p.A773A ACC 3 195594805 195594805 + Silent SNP A A G TCGA-OR-A5JW-01A-11D-A29I-10 TCGA-OR-A5JW-10A-01D-A29L-10 g.chr3:195594805A>G c.2319T>C c.(2317-2319)gcT>gcC p.A773A ACC 3 195594805 195594805 + Silent SNP A A G TCGA-OR-A5LC-01A-11D-A29I-10 TCGA-OR-A5LC-10A-01D-A29L-10 g.chr3:195594805A>G c.2319T>C c.(2317-2319)gcT>gcC p.A773A BLCA 3 195593873 195593873 + Silent SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 g.chr3:195593873G>A c.2997C>T c.(2995-2997)ttC>ttT p.F999F BLCA 3 195594568 195594568 + Missense_Mutation SNP C C G TCGA-GU-AATP-01A-11D-A391-08 TCGA-GU-AATP-10A-01D-A394-08 g.chr3:195594568C>G c.2556G>C c.(2554-2556)aaG>aaC p.K852N BLCA 3 195594701 195594701 + Nonsense_Mutation SNP G G C TCGA-GD-A2C5-01A-12D-A17V-08 TCGA-GD-A2C5-10A-01D-A17V-08 g.chr3:195594701G>C c.2423C>G c.(2422-2424)tCa>tGa p.S808* BLCA 3 195595153 195595153 + Silent SNP C C A TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 g.chr3:195595153C>A c.1971G>T c.(1969-1971)gcG>gcT p.A657A BLCA 3 195595194 195595194 + Missense_Mutation SNP C C T TCGA-GU-AATP-01A-11D-A391-08 TCGA-GU-AATP-10A-01D-A394-08 g.chr3:195595194C>T c.1930G>A c.(1930-1932)Gac>Aac p.D644N BLCA 3 195599180 195599181 + Frame_Shift_Ins INS - - G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 g.chr3:195599180_195599181insG c.1417_1418insC c.(1417-1419)cgcfs p.R473fs BLCA 3 195599181 195599181 + Missense_Mutation SNP G G C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 g.chr3:195599181G>C c.1417C>G c.(1417-1419)Cgc>Ggc p.R473G BLCA 3 195599249 195599249 + Missense_Mutation SNP G G A TCGA-BT-A2LA-01A-11D-A18F-08 TCGA-BT-A2LA-11A-11D-A18F-08 g.chr3:195599249G>A c.1349C>T c.(1348-1350)tCg>tTg p.S450L BLCA 3 195608974 195608974 + Nonsense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chr3:195608974G>A c.835C>T c.(835-837)Cag>Tag p.Q279* BLCA 3 195610067 195610067 + Silent SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 g.chr3:195610067G>A c.570C>T c.(568-570)atC>atT p.I190I BLCA 3 195610085 195610085 + Silent SNP G G A TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr3:195610085G>A c.552C>T c.(550-552)ctC>ctT p.L184L BLCA 3 195611833 195611833 + Silent SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 g.chr3:195611833C>T c.306G>A c.(304-306)tcG>tcA p.S102S BLCA 3 195615316 195615316 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr3:195615316C>T c.144G>A c.(142-144)aaG>aaA p.K48K CESC 3 195594534 195594534 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 g.chr3:195594534C>T c.2590G>A c.(2590-2592)Gag>Aag p.E864K CESC 3 195595033 195595033 + Silent SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 g.chr3:195595033C>A c.2091G>T c.(2089-2091)ccG>ccT p.P697P CESC 3 195608929 195608929 + Missense_Mutation SNP A A G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 g.chr3:195608929A>G c.880T>C c.(880-882)Ttc>Ctc p.F294L CESC 3 195610077 195610077 + Missense_Mutation SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 g.chr3:195610077C>T c.560G>A c.(559-561)cGa>cAa p.R187Q CHOL 3 195609127 195609127 + Missense_Mutation SNP T T A TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr3:195609127T>A c.682A>T c.(682-684)Act>Tct p.T228S COAD 3 195594633 195594633 + Frame_Shift_Del DEL G G - TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr3:195594633delG c.2491delC c.(2491-2493)cagfs p.Q831fs COAD 3 195597006 195597006 + Frame_Shift_Del DEL G G - TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr3:195597006delG c.1522delC c.(1522-1524)cagfs p.Q508fs COAD 3 195597045 195597046 + Frame_Shift_Ins INS - - G TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr3:195597045_195597046insG c.1482_1483insC c.(1480-1485)cccgacfs p.D495fs COAD 3 195606036 195606036 + Missense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr3:195606036C>T c.898G>A c.(898-900)Gag>Aag p.E300K COAD 3 195608936 195608936 + Missense_Mutation SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr3:195608936C>A c.873G>T c.(871-873)aaG>aaT p.K291N COAD 3 195608957 195608957 + Silent SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr3:195608957G>A c.852C>T c.(850-852)taC>taT p.Y284Y COAD 3 195609019 195609019 + Missense_Mutation SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr3:195609019C>T c.790G>A c.(790-792)Gac>Aac p.D264N COAD 3 195610182 195610182 + Splice_Site SNP T T C TCGA-D5-5541-01A-01D-1650-10 TCGA-D5-5541-10A-02D-1650-10 g.chr3:195610182T>C c.e5-2 COAD 3 195611844 195611844 + Silent SNP G G T TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr3:195611844G>T c.295C>A c.(295-297)Cgg>Agg p.R99R COAD 3 195611887 195611887 + Silent SNP T T C TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr3:195611887T>C c.252A>G c.(250-252)cgA>cgG p.R84R COAD 3 195615336 195615336 + Missense_Mutation SNP T T C TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr3:195615336T>C c.124A>G c.(124-126)Aag>Gag p.K42E COAD 3 195615360 195615360 + Missense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr3:195615360G>A c.100C>T c.(100-102)Cgc>Tgc p.R34C COAD 3 195615360 195615360 + Missense_Mutation SNP G G A TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr3:195615360G>A c.100C>T c.(100-102)Cgc>Tgc p.R34C COADREAD 3 195594633 195594633 + Frame_Shift_Del DEL G G - TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr3:195594633delG c.2491delC c.(2491-2493)cagfs p.Q831fs COADREAD 3 195597006 195597006 + Frame_Shift_Del DEL G G - TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr3:195597006delG c.1522delC c.(1522-1524)cagfs p.Q508fs COADREAD 3 195597045 195597046 + Frame_Shift_Ins INS - - G TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr3:195597045_195597046insG c.1482_1483insC c.(1480-1485)cccgacfs p.D495fs COADREAD 3 195606036 195606036 + Missense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr3:195606036C>T c.898G>A c.(898-900)Gag>Aag p.E300K COADREAD 3 195608936 195608936 + Missense_Mutation SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr3:195608936C>A c.873G>T c.(871-873)aaG>aaT p.K291N COADREAD 3 195608957 195608957 + Silent SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr3:195608957G>A c.852C>T c.(850-852)taC>taT p.Y284Y COADREAD 3 195609019 195609019 + Missense_Mutation SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr3:195609019C>T c.790G>A c.(790-792)Gac>Aac p.D264N COADREAD 3 195610182 195610182 + Splice_Site SNP T T C TCGA-D5-5541-01A-01D-1650-10 TCGA-D5-5541-10A-02D-1650-10 g.chr3:195610182T>C c.e5-2 COADREAD 3 195611844 195611844 + Missense_Mutation SNP G G A TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr3:195611844G>A c.295C>T c.(295-297)Cgg>Tgg p.R99W COADREAD 3 195611844 195611844 + Silent SNP G G T TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr3:195611844G>T c.295C>A c.(295-297)Cgg>Agg p.R99R COADREAD 3 195611887 195611887 + Silent SNP T T C TCGA-CL-5917-01A-11D-1657-10 TCGA-CL-5917-10A-01D-1657-10 g.chr3:195611887T>C c.252A>G c.(250-252)cgA>cgG p.R84R COADREAD 3 195611887 195611887 + Silent SNP T T C TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr3:195611887T>C c.252A>G c.(250-252)cgA>cgG p.R84R COADREAD 3 195615336 195615336 + Missense_Mutation SNP T T C TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr3:195615336T>C c.124A>G c.(124-126)Aag>Gag p.K42E COADREAD 3 195615360 195615360 + Missense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr3:195615360G>A c.100C>T c.(100-102)Cgc>Tgc p.R34C COADREAD 3 195615360 195615360 + Missense_Mutation SNP G G A TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr3:195615360G>A c.100C>T c.(100-102)Cgc>Tgc p.R34C DLBC 3 195594931 195594931 + Silent SNP C C T TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr3:195594931C>T c.2193G>A c.(2191-2193)ccG>ccA p.P731P DLBC 3 195605200 195605200 + Missense_Mutation SNP G G A TCGA-FF-8042-01A-11D-2210-10 TCGA-FF-8042-10A-01D-2210-10 g.chr3:195605200G>A c.1180C>T c.(1180-1182)Cgg>Tgg p.R394W ESCA 3 195593867 195593867 + Silent SNP C C A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 g.chr3:195593867C>A c.3003G>T c.(3001-3003)ctG>ctT p.L1001L ESCA 3 195594074 195594074 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr3:195594074C>A c.2948G>T c.(2947-2949)gGc>gTc p.G983V ESCA 3 195594633 195594633 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr3:195594633delG c.2491delC c.(2491-2493)cagfs p.Q831fs ESCA 3 195594983 195594983 + Missense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 g.chr3:195594983C>A c.2141G>T c.(2140-2142)tGc>tTc p.C714F ESCA 3 195595154 195595154 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr3:195595154G>T c.1970C>A c.(1969-1971)gCg>gAg p.A657E GBM 3 195595228 195595229 + Frame_Shift_Ins INS - - G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 g.chr3:195595228_195595229insG c.1895_1896insC c.(1894-1896)ccgfs p.P632fs GBM 3 195597005 195597006 + Frame_Shift_Ins INS - - G TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 g.chr3:195597005_195597006insG c.1522_1523insC c.(1522-1524)cagfs p.Q508fs GBM 3 195599202 195599203 + Frame_Shift_Del DEL CT CT - TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 g.chr3:195599202_195599203delCT c.1395_1396delAG c.(1393-1398)acagggfs p.G466fs GBM 3 195611779 195611779 + Silent SNP G G C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 g.chr3:195611779G>C c.360C>G c.(358-360)ctC>ctG p.L120L GBMLGG 3 195595228 195595229 + Frame_Shift_Ins INS - - G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 g.chr3:195595228_195595229insG c.1895_1896insC c.(1894-1896)ccgfs p.P632fs GBMLGG 3 195595228 195595229 + Frame_Shift_Ins INS - - G TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 g.chr3:195595228_195595229insG c.1895_1896insC c.(1894-1896)ccgfs p.P632fs GBMLGG 3 195597005 195597006 + Frame_Shift_Ins INS - - G TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 g.chr3:195597005_195597006insG c.1522_1523insC c.(1522-1524)cagfs p.Q508fs GBMLGG 3 195599202 195599203 + Frame_Shift_Del DEL CT CT - TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 g.chr3:195599202_195599203delCT c.1395_1396delAG c.(1393-1398)acagggfs p.G466fs GBMLGG 3 195605334 195605334 + Missense_Mutation SNP G G A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 g.chr3:195605334G>A c.1144C>T c.(1144-1146)Cgg>Tgg p.R382W GBMLGG 3 195611779 195611779 + Silent SNP G G C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 g.chr3:195611779G>C c.360C>G c.(358-360)ctC>ctG p.L120L HNSC 3 195594350 195594350 + Missense_Mutation SNP G G C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 g.chr3:195594350G>C c.2774C>G c.(2773-2775)aCc>aGc p.T925S HNSC 3 195595101 195595101 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr3:195595101C>G c.2023G>C c.(2023-2025)Gag>Cag p.E675Q HNSC 3 195595233 195595233 + Missense_Mutation SNP G G C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 g.chr3:195595233G>C c.1891C>G c.(1891-1893)Ccc>Gcc p.P631A HNSC 3 195595308 195595308 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr3:195595308G>C c.1816C>G c.(1816-1818)Cag>Gag p.Q606E HNSC 3 195595418 195595418 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 g.chr3:195595418G>A c.1706C>T c.(1705-1707)aCg>aTg p.T569M HNSC 3 195595561 195595561 + Silent SNP C C A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 g.chr3:195595561C>A c.1563G>T c.(1561-1563)gtG>gtT p.V521V HNSC 3 195599248 195599248 + Silent SNP C C T TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 g.chr3:195599248C>T c.1350G>A c.(1348-1350)tcG>tcA p.S450S HNSC 3 195608990 195608990 + Silent SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 g.chr3:195608990C>T c.819G>A c.(817-819)ctG>ctA p.L273L HNSC 3 195611811 195611811 + Missense_Mutation SNP C C T TCGA-F7-A623-01A-11D-A28R-08 TCGA-F7-A623-10A-01D-A28U-08 g.chr3:195611811C>T c.328G>A c.(328-330)Ggg>Agg p.G110R KICH 3 195594314 195594314 + Frame_Shift_Del DEL G G - TCGA-KM-8443-01A-11D-2310-10 TCGA-KM-8443-10A-01D-2311-10 g.chr3:195594314delG c.2810delC c.(2809-2811)ccgfs p.P937fs KIPAN 3 195594314 195594314 + Frame_Shift_Del DEL G G - TCGA-KM-8443-01A-11D-2310-10 TCGA-KM-8443-10A-01D-2311-10 g.chr3:195594314delG c.2810delC c.(2809-2811)ccgfs p.P937fs KIPAN 3 195594610 195594610 + Silent SNP C C T TCGA-CW-6087-01A-11D-1669-08 TCGA-CW-6087-11A-01D-1669-08 g.chr3:195594610C>T c.2514G>A c.(2512-2514)ccG>ccA p.P838P KIPAN 3 195595228 195595229 + Frame_Shift_Ins INS - - G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr3:195595228_195595229insG c.1895_1896insC c.(1894-1896)ccgfs p.P632fs KIRC 3 195594610 195594610 + Silent SNP C C T TCGA-CW-6087-01A-11D-1669-08 TCGA-CW-6087-11A-01D-1669-08 g.chr3:195594610C>T c.2514G>A c.(2512-2514)ccG>ccA p.P838P KIRC 3 195595228 195595229 + Frame_Shift_Ins INS - - G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr3:195595228_195595229insG c.1895_1896insC c.(1894-1896)ccgfs p.P632fs LGG 3 195595228 195595229 + Frame_Shift_Ins INS - - G TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 g.chr3:195595228_195595229insG c.1895_1896insC c.(1894-1896)ccgfs p.P632fs LGG 3 195605334 195605334 + Missense_Mutation SNP G G A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 g.chr3:195605334G>A c.1144C>T c.(1144-1146)Cgg>Tgg p.R382W LIHC 3 195594061 195594061 + Missense_Mutation SNP C C A TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr3:195594061C>A c.2961G>T c.(2959-2961)caG>caT p.Q987H LIHC 3 195610026 195610026 + Splice_Site SNP A A T TCGA-RC-A6M6-01A-11D-A32G-10 TCGA-RC-A6M6-10A-01D-A32G-10 g.chr3:195610026A>T c.e5+1 LIHC 3 195611685 195611685 + Missense_Mutation SNP T T C TCGA-DD-A1ED-01A-11D-A152-10 TCGA-DD-A1ED-10A-01D-A152-10 g.chr3:195611685T>C c.454A>G c.(454-456)Acg>Gcg p.T152A LUAD 3 195593858 195593858 + Silent SNP C C G TCGA-53-A4EZ-01A-12D-A24P-08 TCGA-53-A4EZ-10A-01D-A24P-08 g.chr3:195593858C>G c.3012G>C c.(3010-3012)cgG>cgC p.R1004R LUAD 3 195593860 195593860 + Missense_Mutation SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 g.chr3:195593860G>A c.3010C>T c.(3010-3012)Cgg>Tgg p.R1004W LUAD 3 195594441 195594441 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr3:195594441G>A c.2683C>T c.(2683-2685)Ccc>Tcc p.P895S LUAD 3 195594534 195594534 + Nonsense_Mutation SNP C C A TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr3:195594534C>A c.2590G>T c.(2590-2592)Gag>Tag p.E864* LUAD 3 195594618 195594618 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr3:195594618G>A c.2506C>T c.(2506-2508)Cct>Tct p.P836S LUAD 3 195594628 195594628 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr3:195594628C>A c.2496G>T c.(2494-2496)gtG>gtT p.V832V LUAD 3 195594872 195594872 + Missense_Mutation SNP C C A TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr3:195594872C>A c.2252G>T c.(2251-2253)cGc>cTc p.R751L LUAD 3 195595228 195595229 + Frame_Shift_Ins INS - - G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr3:195595228_195595229insG c.1895_1896insC c.(1894-1896)ccgfs p.P632fs LUAD 3 195595457 195595457 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chr3:195595457G>A c.1667C>T c.(1666-1668)cCg>cTg p.P556L LUAD 3 195599255 195599255 + Missense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 g.chr3:195599255C>T c.1343G>A c.(1342-1344)gGc>gAc p.G448D LUAD 3 195610174 195610174 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 g.chr3:195610174C>A c.463G>T c.(463-465)Gtg>Ttg p.V155L LUAD 3 195611830 195611830 + Silent SNP G G A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 g.chr3:195611830G>A c.309C>T c.(307-309)ccC>ccT p.P103P LUSC 3 195595138 195595138 + Silent SNP C C A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 g.chr3:195595138C>A c.1986G>T c.(1984-1986)ggG>ggT p.G662G LUSC 3 195599179 195599179 + Silent SNP G G A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 g.chr3:195599179G>A c.1419C>T c.(1417-1419)cgC>cgT p.R473R LUSC 3 195605216 195605216 + Silent SNP G G A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr3:195605216G>A c.1164C>T c.(1162-1164)gcC>gcT p.A388A LUSC 3 195611843 195611843 + Missense_Mutation SNP C C A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr3:195611843C>A c.296G>T c.(295-297)cGg>cTg p.R99L OV 3 195611842 195611842 + Silent SNP C C T TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 g.chr3:195611842C>T c.297G>A c.(295-297)cgG>cgA p.R99R OV 3 195615448 195615448 + Silent SNP C C T TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 g.chr3:195615448C>T c.12G>A c.(10-12)gaG>gaA p.E4E PAAD 3 195593780 195593780 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:195593780G>A c.3090C>T c.(3088-3090)tcC>tcT p.S1030S PAAD 3 195593856 195593856 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:195593856G>T c.3014C>A c.(3013-3015)cCc>cAc p.P1005H PAAD 3 195595228 195595229 + Frame_Shift_Ins INS - - G TCGA-2L-AAQE-01A-11D-A397-08 TCGA-2L-AAQE-11A-11D-A39A-08 g.chr3:195595228_195595229insG c.1895_1896insC c.(1894-1896)ccgfs p.P632fs PCPG 3 195599219 195599219 + Missense_Mutation SNP T T C TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 g.chr3:195599219T>C c.1379A>G c.(1378-1380)aAc>aGc p.N460S PRAD 3 195594514 195594514 + Missense_Mutation SNP C C A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:195594514C>A c.2610G>T c.(2608-2610)gaG>gaT p.E870D PRAD 3 195595228 195595229 + Frame_Shift_Ins INS - - G TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 g.chr3:195595228_195595229insG c.1895_1896insC c.(1894-1896)ccgfs p.P632fs PRAD 3 195599151 195599151 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:195599151C>T c.1447G>A c.(1447-1449)Gac>Aac p.D483N PRAD 3 195611759 195611759 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:195611759C>T c.380G>A c.(379-381)cGc>cAc p.R127H READ 3 195611844 195611844 + Missense_Mutation SNP G G A TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr3:195611844G>A c.295C>T c.(295-297)Cgg>Tgg p.R99W READ 3 195611887 195611887 + Silent SNP T T C TCGA-CL-5917-01A-11D-1657-10 TCGA-CL-5917-10A-01D-1657-10 g.chr3:195611887T>C c.252A>G c.(250-252)cgA>cgG p.R84R SARC 3 195609097 195609097 + Nonsense_Mutation SNP C C A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 g.chr3:195609097C>A c.712G>T c.(712-714)Gag>Tag p.E238* SARC 3 195611735 195611735 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr3:195611735C>T c.404G>A c.(403-405)gGt>gAt p.G135D SARC 3 195611736 195611736 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr3:195611736C>T c.403G>A c.(403-405)Ggt>Agt p.G135S SKCM 3 195594365 195594365 + Missense_Mutation SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:195594365T>C c.2759A>G c.(2758-2760)aAg>aGg p.K920R SKCM 3 195594450 195594450 + Silent SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr3:195594450G>A c.2674C>T c.(2674-2676)Ctg>Ttg p.L892L SKCM 3 195594769 195594769 + Silent SNP G G A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr3:195594769G>A c.2355C>T c.(2353-2355)tcC>tcT p.S785S SKCM 3 195595280 195595280 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr3:195595280G>A c.1844C>T c.(1843-1845)cCc>cTc p.P615L SKCM 3 195599249 195599249 + Missense_Mutation SNP G G A TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr3:195599249G>A c.1349C>T c.(1348-1350)tCg>tTg p.S450L SKCM 3 195599264 195599264 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr3:195599264G>A c.1334C>T c.(1333-1335)tCc>tTc p.S445F SKCM 3 195605199 195605199 + Missense_Mutation SNP C C A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr3:195605199C>A c.1181G>T c.(1180-1182)cGg>cTg p.R394L SKCM 3 195605354 195605354 + Missense_Mutation SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr3:195605354C>T c.1124G>A c.(1123-1125)aGa>aAa p.R375K SKCM 3 195605370 195605370 + Missense_Mutation SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr3:195605370G>A c.1108C>T c.(1108-1110)Cac>Tac p.H370Y SKCM 3 195605959 195605959 + Silent SNP G G A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 g.chr3:195605959G>A c.975C>T c.(973-975)acC>acT p.T325T SKCM 3 195609174 195609174 + Missense_Mutation SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr3:195609174G>A c.635C>T c.(634-636)tCg>tTg p.S212L SKCM 3 195610038 195610038 + Missense_Mutation SNP G G A TCGA-EE-A29P-06A-11D-A197-08 TCGA-EE-A29P-10A-01D-A199-08 g.chr3:195610038G>A c.599C>T c.(598-600)cCc>cTc p.P200L SKCM 3 195611830 195611830 + Silent SNP G G T TCGA-EE-A2GT-06A-12D-A197-08 TCGA-EE-A2GT-10A-01D-A199-08 g.chr3:195611830G>T c.309C>A c.(307-309)ccC>ccA p.P103P SKCM 3 195615303 195615303 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr3:195615303G>A c.157C>T c.(157-159)Cgg>Tgg p.R53W

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 3 195593873 195593873 single base substitution G A downstream_gene_variant BLCA-US 3 195593873 195593873 single base substitution G A exon_variant BLCA-US 3 195593873 195593873 single base substitution G A synonymous_variant F1001F 3003C>T BLCA-US 3 195593873 195593873 single base substitution G A synonymous_variant F1047F 3141C>T BLCA-US 3 195593873 195593873 single base substitution G A synonymous_variant F568F 1704C>T BLCA-US 3 195593873 195593873 single base substitution G A synonymous_variant F999F 2997C>T BLCA-US 3 195594701 195594701 single base substitution G C downstream_gene_variant BLCA-US 3 195594701 195594701 single base substitution G C exon_variant BLCA-US 3 195594701 195594701 single base substitution G C stop_gained S375* 1124C>G BLCA-US 3 195594701 195594701 single base substitution G C stop_gained S808* 2423C>G BLCA-US 3 195594701 195594701 single base substitution G C stop_gained S840* 2519C>G BLCA-US 3 195594701 195594701 single base substitution G C stop_gained S886* 2657C>G BLCA-US 3 195599180 195599180 insertion of <=200bp - G exon_variant BLCA-US 3 195599180 195599180 insertion of <=200bp - G frameshift_variant R118R? BLCA-US 3 195599180 195599180 insertion of <=200bp - G frameshift_variant R25R? BLCA-US 3 195599180 195599180 insertion of <=200bp - G frameshift_variant R473R? BLCA-US 3 195599180 195599180 insertion of <=200bp - G frameshift_variant R505R? BLCA-US 3 195599180 195599180 insertion of <=200bp - G frameshift_variant R536R? BLCA-US 3 195599180 195599180 insertion of <=200bp - G frameshift_variant R82R? BLCA-US 3 195599180 195599180 insertion of <=200bp - G upstream_gene_variant BLCA-US 3 195599181 195599181 single base substitution G C exon_variant BLCA-US 3 195599181 195599181 single base substitution G C missense_variant R118G 352C>G BLCA-US 3 195599181 195599181 single base substitution G C missense_variant R25G 73C>G BLCA-US 3 195599181 195599181 single base substitution G C missense_variant R473G 1417C>G BLCA-US 3 195599181 195599181 single base substitution G C missense_variant R505G 1513C>G BLCA-US 3 195599181 195599181 single base substitution G C missense_variant R536G 1606C>G BLCA-US 3 195599181 195599181 single base substitution G C missense_variant R82G 244C>G BLCA-US 3 195599181 195599181 single base substitution G C upstream_gene_variant BLCA-US 3 195608974 195608974 single base substitution G A 3_prime_UTR_variant BLCA-US 3 195608974 195608974 single base substitution G A downstream_gene_variant BLCA-US 3 195608974 195608974 single base substitution G A exon_variant BLCA-US 3 195608974 195608974 single base substitution G A intron_variant BLCA-US 3 195608974 195608974 single base substitution G A stop_gained Q203* 607C>T BLCA-US 3 195608974 195608974 single base substitution G A stop_gained Q279* 835C>T BLCA-US 3 195608974 195608974 single base substitution G A stop_gained Q311* 931C>T BLCA-US 3 195608974 195608974 single base substitution G A stop_gained Q342* 1024C>T BLCA-US 3 195608974 195608974 single base substitution G A upstream_gene_variant BLCA-US 3 195610067 195610067 single base substitution G A downstream_gene_variant BLCA-US 3 195610067 195610067 single base substitution G A exon_variant BLCA-US 3 195610067 195610067 single base substitution G A intron_variant BLCA-US 3 195610067 195610067 single base substitution G A synonymous_variant I114I 342C>T BLCA-US 3 195610067 195610067 single base substitution G A synonymous_variant I190I 570C>T BLCA-US 3 195610067 195610067 single base substitution G A synonymous_variant I222I 666C>T BLCA-US 3 195610067 195610067 single base substitution G A synonymous_variant I253I 759C>T BLCA-US 3 195610067 195610067 single base substitution G A upstream_gene_variant BLCA-US 3 195615316 195615316 single base substitution C T exon_variant BLCA-US 3 195615316 195615316 single base substitution C T intron_variant BLCA-US 3 195615316 195615316 single base substitution C T synonymous_variant K111K 333G>A BLCA-US 3 195615316 195615316 single base substitution C T synonymous_variant K112K 336G>A BLCA-US 3 195615316 195615316 single base substitution C T synonymous_variant K46K 138G>A BLCA-US 3 195615316 195615316 single base substitution C T synonymous_variant K48K 144G>A BLCA-US 3 195615316 195615316 single base substitution C T synonymous_variant K80K 240G>A BLCA-US 3 195615316 195615316 single base substitution C T upstream_gene_variant BOCA-FR 3 195594273 195594273 single base substitution C T downstream_gene_variant BOCA-FR 3 195594273 195594273 single base substitution C T exon_variant BOCA-FR 3 195594273 195594273 single base substitution C T missense_variant D1029N 3085G>A BOCA-FR 3 195594273 195594273 single base substitution C T missense_variant D518N 1552G>A BOCA-FR 3 195594273 195594273 single base substitution C T missense_variant D951N 2851G>A BOCA-FR 3 195594273 195594273 single base substitution C T missense_variant D983N 2947G>A BOCA-FR 3 195626659 195626659 single base substitution T C intron_variant BOCA-FR 3 195626659 195626659 single base substitution T C upstream_gene_variant BRCA-EU 3 195585837 195585837 single base substitution A C downstream_gene_variant BRCA-EU 3 195585855 195585855 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 195585971 195585971 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 195586146 195586146 single base substitution T C downstream_gene_variant BRCA-EU 3 195587942 195587942 single base substitution A T downstream_gene_variant BRCA-EU 3 195589036 195589036 single base substitution G C downstream_gene_variant BRCA-EU 3 195591170 195591170 single base substitution C T downstream_gene_variant BRCA-EU 3 195591170 195591170 single base substitution C T intron_variant BRCA-EU 3 195591884 195591884 single base substitution C T downstream_gene_variant BRCA-EU 3 195591884 195591884 single base substitution C T intron_variant BRCA-EU 3 195591974 195591974 single base substitution G C downstream_gene_variant BRCA-EU 3 195591974 195591974 single base substitution G C intron_variant BRCA-EU 3 195592761 195592761 single base substitution C T downstream_gene_variant BRCA-EU 3 195592761 195592761 single base substitution C T intron_variant BRCA-EU 3 195593788 195593788 single base substitution G A downstream_gene_variant BRCA-EU 3 195593788 195593788 single base substitution G A exon_variant BRCA-EU 3 195593788 195593788 single base substitution G A synonymous_variant L1028L 3082C>T BRCA-EU 3 195593788 195593788 single base substitution G A synonymous_variant L1030L 3088C>T BRCA-EU 3 195593788 195593788 single base substitution G A synonymous_variant L1076L 3226C>T BRCA-EU 3 195593788 195593788 single base substitution G A synonymous_variant L597L 1789C>T BRCA-EU 3 195593988 195593988 single base substitution G C downstream_gene_variant BRCA-EU 3 195593988 195593988 single base substitution G C intron_variant BRCA-EU 3 195594274 195594274 single base substitution G A downstream_gene_variant BRCA-EU 3 195594274 195594274 single base substitution G A exon_variant BRCA-EU 3 195594274 195594274 single base substitution G A synonymous_variant G1028G 3084C>T BRCA-EU 3 195594274 195594274 single base substitution G A synonymous_variant G517G 1551C>T BRCA-EU 3 195594274 195594274 single base substitution G A synonymous_variant G950G 2850C>T BRCA-EU 3 195594274 195594274 single base substitution G A synonymous_variant G982G 2946C>T BRCA-EU 3 195594921 195594921 single base substitution C T downstream_gene_variant BRCA-EU 3 195594921 195594921 single base substitution C T exon_variant BRCA-EU 3 195594921 195594921 single base substitution C T missense_variant D302N 904G>A BRCA-EU 3 195594921 195594921 single base substitution C T missense_variant D735N 2203G>A BRCA-EU 3 195594921 195594921 single base substitution C T missense_variant D767N 2299G>A BRCA-EU 3 195594921 195594921 single base substitution C T missense_variant D813N 2437G>A BRCA-EU 3 195596190 195596190 single base substitution C T downstream_gene_variant BRCA-EU 3 195596190 195596190 single base substitution C T exon_variant BRCA-EU 3 195596190 195596190 single base substitution C T intron_variant BRCA-EU 3 195596310 195596310 single base substitution G T downstream_gene_variant BRCA-EU 3 195596310 195596310 single base substitution G T exon_variant BRCA-EU 3 195596310 195596310 single base substitution G T intron_variant BRCA-EU 3 195598781 195598781 single base substitution G A downstream_gene_variant BRCA-EU 3 195598781 195598781 single base substitution G A intron_variant BRCA-EU 3 195598781 195598781 single base substitution G A upstream_gene_variant BRCA-EU 3 195600383 195600383 single base substitution C G downstream_gene_variant BRCA-EU 3 195600383 195600383 single base substitution C G intron_variant BRCA-EU 3 195600383 195600383 single base substitution C G upstream_gene_variant BRCA-EU 3 195602185 195602185 single base substitution G A downstream_gene_variant BRCA-EU 3 195602185 195602185 single base substitution G A intron_variant BRCA-EU 3 195602185 195602185 single base substitution G A upstream_gene_variant BRCA-EU 3 195602189 195602189 single base substitution C G downstream_gene_variant BRCA-EU 3 195602189 195602189 single base substitution C G intron_variant BRCA-EU 3 195602189 195602189 single base substitution C G upstream_gene_variant BRCA-EU 3 195602230 195602230 single base substitution G A downstream_gene_variant BRCA-EU 3 195602230 195602230 single base substitution G A intron_variant BRCA-EU 3 195602230 195602230 single base substitution G A upstream_gene_variant BRCA-EU 3 195604361 195604361 single base substitution G C downstream_gene_variant BRCA-EU 3 195604361 195604361 single base substitution G C intron_variant BRCA-EU 3 195604361 195604361 single base substitution G C upstream_gene_variant BRCA-EU 3 195604627 195604627 single base substitution G T downstream_gene_variant BRCA-EU 3 195604627 195604627 single base substitution G T intron_variant BRCA-EU 3 195604627 195604627 single base substitution G T upstream_gene_variant BRCA-EU 3 195605174 195605174 single base substitution C T downstream_gene_variant BRCA-EU 3 195605174 195605174 single base substitution C T exon_variant BRCA-EU 3 195605174 195605174 single base substitution C T intron_variant BRCA-EU 3 195605174 195605174 single base substitution C T synonymous_variant P402P 1206G>A BRCA-EU 3 195605174 195605174 single base substitution C T synonymous_variant P434P 1302G>A BRCA-EU 3 195605174 195605174 single base substitution C T synonymous_variant P465P 1395G>A BRCA-EU 3 195605174 195605174 single base substitution C T upstream_gene_variant BRCA-EU 3 195605383 195605388 deletion of <=200bp GACCAT - downstream_gene_variant BRCA-EU 3 195605383 195605388 deletion of <=200bp GACCAT - exon_variant BRCA-EU 3 195605383 195605388 deletion of <=200bp GACCAT - inframe_deletion MV288 BRCA-EU 3 195605383 195605388 deletion of <=200bp GACCAT - inframe_deletion MV364 BRCA-EU 3 195605383 195605388 deletion of <=200bp GACCAT - inframe_deletion MV396 BRCA-EU 3 195605383 195605388 deletion of <=200bp GACCAT - inframe_deletion MV427 BRCA-EU 3 195605383 195605388 deletion of <=200bp GACCAT - intron_variant BRCA-EU 3 195605383 195605388 deletion of <=200bp GACCAT - upstream_gene_variant BRCA-EU 3 195605424 195605424 single base substitution G A downstream_gene_variant BRCA-EU 3 195605424 195605424 single base substitution G A exon_variant BRCA-EU 3 195605424 195605424 single base substitution G A intron_variant BRCA-EU 3 195605424 195605424 single base substitution G A missense_variant R276W 826C>T BRCA-EU 3 195605424 195605424 single base substitution G A missense_variant R352W 1054C>T BRCA-EU 3 195605424 195605424 single base substitution G A missense_variant R384W 1150C>T BRCA-EU 3 195605424 195605424 single base substitution G A missense_variant R415W 1243C>T BRCA-EU 3 195605424 195605424 single base substitution G A upstream_gene_variant BRCA-EU 3 195606120 195606120 single base substitution T G exon_variant BRCA-EU 3 195606120 195606120 single base substitution T G intron_variant BRCA-EU 3 195606120 195606120 single base substitution T G upstream_gene_variant BRCA-EU 3 195606401 195606401 single base substitution C A intron_variant BRCA-EU 3 195606401 195606401 single base substitution C A upstream_gene_variant BRCA-EU 3 195606749 195606749 single base substitution T C downstream_gene_variant BRCA-EU 3 195606749 195606749 single base substitution T C intron_variant BRCA-EU 3 195606749 195606749 single base substitution T C upstream_gene_variant BRCA-EU 3 195608377 195608377 single base substitution G A downstream_gene_variant BRCA-EU 3 195608377 195608377 single base substitution G A intron_variant BRCA-EU 3 195608377 195608377 single base substitution G A upstream_gene_variant BRCA-EU 3 195608956 195608956 single base substitution C T 3_prime_UTR_variant BRCA-EU 3 195608956 195608956 single base substitution C T downstream_gene_variant BRCA-EU 3 195608956 195608956 single base substitution C T exon_variant BRCA-EU 3 195608956 195608956 single base substitution C T intron_variant BRCA-EU 3 195608956 195608956 single base substitution C T missense_variant V209I 625G>A BRCA-EU 3 195608956 195608956 single base substitution C T missense_variant V285I 853G>A BRCA-EU 3 195608956 195608956 single base substitution C T missense_variant V317I 949G>A BRCA-EU 3 195608956 195608956 single base substitution C T missense_variant V348I 1042G>A BRCA-EU 3 195608956 195608956 single base substitution C T upstream_gene_variant BRCA-EU 3 195609058 195609058 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 195609058 195609058 single base substitution G A downstream_gene_variant BRCA-EU 3 195609058 195609058 single base substitution G A exon_variant BRCA-EU 3 195609058 195609058 single base substitution G A intron_variant BRCA-EU 3 195609058 195609058 single base substitution G A missense_variant R175C 523C>T BRCA-EU 3 195609058 195609058 single base substitution G A missense_variant R251C 751C>T BRCA-EU 3 195609058 195609058 single base substitution G A missense_variant R283C 847C>T BRCA-EU 3 195609058 195609058 single base substitution G A missense_variant R314C 940C>T BRCA-EU 3 195609058 195609058 single base substitution G A upstream_gene_variant BRCA-EU 3 195609273 195609273 single base substitution C A downstream_gene_variant BRCA-EU 3 195609273 195609273 single base substitution C A intron_variant BRCA-EU 3 195609273 195609273 single base substitution C A upstream_gene_variant BRCA-EU 3 195613213 195613213 single base substitution G C downstream_gene_variant BRCA-EU 3 195613213 195613213 single base substitution G C intron_variant BRCA-EU 3 195613213 195613213 single base substitution G C upstream_gene_variant BRCA-EU 3 195613259 195613259 single base substitution G A downstream_gene_variant BRCA-EU 3 195613259 195613259 single base substitution G A intron_variant BRCA-EU 3 195613259 195613259 single base substitution G A upstream_gene_variant BRCA-EU 3 195616411 195616411 single base substitution T A intron_variant BRCA-EU 3 195616411 195616411 single base substitution T A upstream_gene_variant BRCA-EU 3 195617012 195617012 single base substitution C T intron_variant BRCA-EU 3 195617012 195617012 single base substitution C T upstream_gene_variant BRCA-EU 3 195617728 195617728 single base substitution C G intron_variant BRCA-EU 3 195617728 195617728 single base substitution C G upstream_gene_variant BRCA-EU 3 195618528 195618528 deletion of <=200bp C - intron_variant BRCA-EU 3 195618528 195618528 deletion of <=200bp C - upstream_gene_variant BRCA-EU 3 195620127 195620127 single base substitution T C intron_variant BRCA-EU 3 195620127 195620127 single base substitution T C upstream_gene_variant BRCA-EU 3 195622034 195622034 single base substitution G T intron_variant BRCA-EU 3 195622034 195622034 single base substitution G T upstream_gene_variant BRCA-EU 3 195623413 195623413 single base substitution G C intron_variant BRCA-EU 3 195623413 195623413 single base substitution G C upstream_gene_variant BRCA-EU 3 195623769 195623769 single base substitution G C intron_variant BRCA-EU 3 195623769 195623769 single base substitution G C upstream_gene_variant BRCA-EU 3 195625138 195625138 single base substitution G A intron_variant BRCA-EU 3 195625138 195625138 single base substitution G A upstream_gene_variant BRCA-EU 3 195626859 195626859 single base substitution G C intron_variant BRCA-EU 3 195626859 195626859 single base substitution G C upstream_gene_variant BRCA-EU 3 195627937 195627937 single base substitution G A intron_variant BRCA-EU 3 195627937 195627937 single base substitution G A upstream_gene_variant BRCA-EU 3 195628239 195628239 single base substitution G C intron_variant BRCA-EU 3 195628239 195628239 single base substitution G C upstream_gene_variant BRCA-EU 3 195628286 195628286 single base substitution G C intron_variant BRCA-EU 3 195628286 195628286 single base substitution G C upstream_gene_variant BRCA-EU 3 195629118 195629118 single base substitution C A intron_variant BRCA-EU 3 195629156 195629156 single base substitution G A intron_variant BRCA-EU 3 195631486 195631486 single base substitution C T intron_variant BRCA-EU 3 195632037 195632037 single base substitution A T intron_variant BRCA-EU 3 195634405 195634405 single base substitution A G intron_variant BRCA-EU 3 195636882 195636882 single base substitution C T intron_variant BRCA-EU 3 195636882 195636882 single base substitution C T upstream_gene_variant BRCA-EU 3 195636953 195636953 single base substitution T C intron_variant BRCA-EU 3 195636953 195636953 single base substitution T C upstream_gene_variant BRCA-EU 3 195640080 195640080 single base substitution C A upstream_gene_variant BRCA-EU 3 195641197 195641197 single base substitution C T upstream_gene_variant BRCA-EU 3 195641755 195641755 single base substitution G A upstream_gene_variant BRCA-FR 3 195609273 195609273 single base substitution C A downstream_gene_variant BRCA-FR 3 195609273 195609273 single base substitution C A intron_variant BRCA-FR 3 195609273 195609273 single base substitution C A upstream_gene_variant BRCA-FR 3 195613259 195613259 single base substitution G A downstream_gene_variant BRCA-FR 3 195613259 195613259 single base substitution G A intron_variant BRCA-FR 3 195613259 195613259 single base substitution G A upstream_gene_variant BRCA-FR 3 195617012 195617012 single base substitution C T intron_variant BRCA-FR 3 195617012 195617012 single base substitution C T upstream_gene_variant BRCA-FR 3 195623413 195623413 single base substitution G C intron_variant BRCA-FR 3 195623413 195623413 single base substitution G C upstream_gene_variant BRCA-UK 3 195592761 195592761 single base substitution C T downstream_gene_variant BRCA-UK 3 195592761 195592761 single base substitution C T intron_variant BRCA-UK 3 195594603 195594603 single base substitution C T downstream_gene_variant BRCA-UK 3 195594603 195594603 single base substitution C T exon_variant BRCA-UK 3 195594603 195594603 single base substitution C T missense_variant G408S 1222G>A BRCA-UK 3 195594603 195594603 single base substitution C T missense_variant G841S 2521G>A BRCA-UK 3 195594603 195594603 single base substitution C T missense_variant G873S 2617G>A BRCA-UK 3 195594603 195594603 single base substitution C T missense_variant G919S 2755G>A BRCA-UK 3 195616288 195616288 single base substitution G A intron_variant BRCA-UK 3 195616288 195616288 single base substitution G A upstream_gene_variant BRCA-UK 3 195630615 195630615 single base substitution G A intron_variant BRCA-US 3 195603552 195603552 single base substitution G T downstream_gene_variant BRCA-US 3 195603552 195603552 single base substitution G T intron_variant BRCA-US 3 195603552 195603552 single base substitution G T missense_variant L5I 13C>A BRCA-US 3 195603552 195603552 single base substitution G T missense_variant P19H 56C>A BRCA-US 3 195603552 195603552 single base substitution G T upstream_gene_variant BTCA-JP 3 195595404 195595404 single base substitution C T 3_prime_UTR_variant BTCA-JP 3 195595404 195595404 single base substitution C T downstream_gene_variant BTCA-JP 3 195595404 195595404 single base substitution C T exon_variant BTCA-JP 3 195595404 195595404 single base substitution C T missense_variant G141S 421G>A BTCA-JP 3 195595404 195595404 single base substitution C T missense_variant G183S 547G>A BTCA-JP 3 195595404 195595404 single base substitution C T missense_variant G574S 1720G>A BTCA-JP 3 195595404 195595404 single base substitution C T missense_variant G606S 1816G>A BTCA-JP 3 195595404 195595404 single base substitution C T missense_variant G652S 1954G>A BTCA-JP 3 195595404 195595404 single base substitution C T splice_region_variant BTCA-JP 3 195595512 195595512 single base substitution G A 3_prime_UTR_variant BTCA-JP 3 195595512 195595512 single base substitution G A downstream_gene_variant BTCA-JP 3 195595512 195595512 single base substitution G A exon_variant BTCA-JP 3 195595512 195595512 single base substitution G A missense_variant R105W 313C>T BTCA-JP 3 195595512 195595512 single base substitution G A missense_variant R147W 439C>T BTCA-JP 3 195595512 195595512 single base substitution G A missense_variant R183W 547C>T BTCA-JP 3 195595512 195595512 single base substitution G A missense_variant R538W 1612C>T BTCA-JP 3 195595512 195595512 single base substitution G A missense_variant R570W 1708C>T BTCA-JP 3 195595512 195595512 single base substitution G A missense_variant R616W 1846C>T BTCA-JP 3 195597116 195597116 single base substitution G A 3_prime_UTR_variant BTCA-JP 3 195597116 195597116 single base substitution G A downstream_gene_variant BTCA-JP 3 195597116 195597116 single base substitution G A exon_variant BTCA-JP 3 195597116 195597116 single base substitution G A intron_variant BTCA-JP 3 195597116 195597116 single base substitution G A upstream_gene_variant BTCA-JP 3 195599306 195599306 single base substitution C A exon_variant BTCA-JP 3 195599306 195599306 single base substitution C A missense_variant R40L 119G>T BTCA-JP 3 195599306 195599306 single base substitution C A missense_variant R431L 1292G>T BTCA-JP 3 195599306 195599306 single base substitution C A missense_variant R463L 1388G>T BTCA-JP 3 195599306 195599306 single base substitution C A missense_variant R494L 1481G>T BTCA-JP 3 195599306 195599306 single base substitution C A missense_variant R76L 227G>T BTCA-JP 3 195599306 195599306 single base substitution C A upstream_gene_variant BTCA-JP 3 195605231 195605231 single base substitution G C downstream_gene_variant BTCA-JP 3 195605231 195605231 single base substitution G C intron_variant BTCA-JP 3 195605231 195605231 single base substitution G C upstream_gene_variant BTCA-JP 3 195606019 195606019 single base substitution G A 3_prime_UTR_variant BTCA-JP 3 195606019 195606019 single base substitution G A exon_variant BTCA-JP 3 195606019 195606019 single base substitution G A intron_variant BTCA-JP 3 195606019 195606019 single base substitution G A synonymous_variant R229R 687C>T BTCA-JP 3 195606019 195606019 single base substitution G A synonymous_variant R305R 915C>T BTCA-JP 3 195606019 195606019 single base substitution G A synonymous_variant R337R 1011C>T BTCA-JP 3 195606019 195606019 single base substitution G A synonymous_variant R368R 1104C>T BTCA-JP 3 195606019 195606019 single base substitution G A upstream_gene_variant BTCA-JP 3 195611710 195611710 single base substitution G A downstream_gene_variant BTCA-JP 3 195611710 195611710 single base substitution G A exon_variant BTCA-JP 3 195611710 195611710 single base substitution G A intron_variant BTCA-JP 3 195611710 195611710 single base substitution G A synonymous_variant G143G 429C>T BTCA-JP 3 195611710 195611710 single base substitution G A synonymous_variant G175G 525C>T BTCA-JP 3 195611710 195611710 single base substitution G A synonymous_variant G206G 618C>T CESC-US 3 195594534 195594534 single base substitution C T downstream_gene_variant CESC-US 3 195594534 195594534 single base substitution C T exon_variant CESC-US 3 195594534 195594534 single base substitution C T missense_variant E431K 1291G>A CESC-US 3 195594534 195594534 single base substitution C T missense_variant E864K 2590G>A CESC-US 3 195594534 195594534 single base substitution C T missense_variant E896K 2686G>A CESC-US 3 195594534 195594534 single base substitution C T missense_variant E942K 2824G>A CESC-US 3 195595033 195595033 single base substitution C A downstream_gene_variant CESC-US 3 195595033 195595033 single base substitution C A exon_variant CESC-US 3 195595033 195595033 single base substitution C A synonymous_variant P264P 792G>T CESC-US 3 195595033 195595033 single base substitution C A synonymous_variant P697P 2091G>T CESC-US 3 195595033 195595033 single base substitution C A synonymous_variant P729P 2187G>T CESC-US 3 195595033 195595033 single base substitution C A synonymous_variant P775P 2325G>T CESC-US 3 195608929 195608929 single base substitution A G 3_prime_UTR_variant CESC-US 3 195608929 195608929 single base substitution A G downstream_gene_variant CESC-US 3 195608929 195608929 single base substitution A G exon_variant CESC-US 3 195608929 195608929 single base substitution A G intron_variant CESC-US 3 195608929 195608929 single base substitution A G missense_variant F218L 652T>C CESC-US 3 195608929 195608929 single base substitution A G missense_variant F294L 880T>C CESC-US 3 195608929 195608929 single base substitution A G missense_variant F326L 976T>C CESC-US 3 195608929 195608929 single base substitution A G missense_variant F357L 1069T>C CESC-US 3 195608929 195608929 single base substitution A G upstream_gene_variant CESC-US 3 195610077 195610077 single base substitution C T downstream_gene_variant CESC-US 3 195610077 195610077 single base substitution C T exon_variant CESC-US 3 195610077 195610077 single base substitution C T intron_variant CESC-US 3 195610077 195610077 single base substitution C T missense_variant R111Q 332G>A CESC-US 3 195610077 195610077 single base substitution C T missense_variant R187Q 560G>A CESC-US 3 195610077 195610077 single base substitution C T missense_variant R219Q 656G>A CESC-US 3 195610077 195610077 single base substitution C T missense_variant R250Q 749G>A CESC-US 3 195610077 195610077 single base substitution C T upstream_gene_variant CLLE-ES 3 195592153 195592153 single base substitution A G downstream_gene_variant CLLE-ES 3 195592153 195592153 single base substitution A G intron_variant CLLE-ES 3 195607745 195607745 single base substitution G A downstream_gene_variant CLLE-ES 3 195607745 195607745 single base substitution G A intron_variant CLLE-ES 3 195607745 195607745 single base substitution G A upstream_gene_variant CLLE-ES 3 195628177 195628177 single base substitution G A intron_variant CLLE-ES 3 195628177 195628177 single base substitution G A upstream_gene_variant CLLE-ES 3 195633775 195633775 single base substitution G A intron_variant COAD-US 3 195594526 195594526 single base substitution T C downstream_gene_variant COAD-US 3 195594526 195594526 single base substitution T C exon_variant COAD-US 3 195594526 195594526 single base substitution T C synonymous_variant P433P 1299A>G COAD-US 3 195594526 195594526 single base substitution T C synonymous_variant P866P 2598A>G COAD-US 3 195594526 195594526 single base substitution T C synonymous_variant P898P 2694A>G COAD-US 3 195594526 195594526 single base substitution T C synonymous_variant P944P 2832A>G COAD-US 3 195594633 195594633 deletion of <=200bp G - downstream_gene_variant COAD-US 3 195594633 195594633 deletion of <=200bp G - exon_variant COAD-US 3 195594633 195594633 deletion of <=200bp G - frameshift_variant Q398 COAD-US 3 195594633 195594633 deletion of <=200bp G - frameshift_variant Q831 COAD-US 3 195594633 195594633 deletion of <=200bp G - frameshift_variant Q863 COAD-US 3 195594633 195594633 deletion of <=200bp G - frameshift_variant Q909 COAD-US 3 195594805 195594805 single base substitution A G downstream_gene_variant COAD-US 3 195594805 195594805 single base substitution A G exon_variant COAD-US 3 195594805 195594805 single base substitution A G synonymous_variant A340A 1020T>C COAD-US 3 195594805 195594805 single base substitution A G synonymous_variant A773A 2319T>C COAD-US 3 195594805 195594805 single base substitution A G synonymous_variant A805A 2415T>C COAD-US 3 195594805 195594805 single base substitution A G synonymous_variant A851A 2553T>C COAD-US 3 195594842 195594842 deletion of <=200bp G - downstream_gene_variant COAD-US 3 195594842 195594842 deletion of <=200bp G - exon_variant COAD-US 3 195594842 195594842 deletion of <=200bp G - frameshift_variant P328 COAD-US 3 195594842 195594842 deletion of <=200bp G - frameshift_variant P761 COAD-US 3 195594842 195594842 deletion of <=200bp G - frameshift_variant P793 COAD-US 3 195594842 195594842 deletion of <=200bp G - frameshift_variant P839 COAD-US 3 195595405 195595405 single base substitution G A 3_prime_UTR_variant COAD-US 3 195595405 195595405 single base substitution G A downstream_gene_variant COAD-US 3 195595405 195595405 single base substitution G A exon_variant COAD-US 3 195595405 195595405 single base substitution G A splice_region_variant COAD-US 3 195595405 195595405 single base substitution G A synonymous_variant F140F 420C>T COAD-US 3 195595405 195595405 single base substitution G A synonymous_variant F182F 546C>T COAD-US 3 195595405 195595405 single base substitution G A synonymous_variant F573F 1719C>T COAD-US 3 195595405 195595405 single base substitution G A synonymous_variant F605F 1815C>T COAD-US 3 195595405 195595405 single base substitution G A synonymous_variant F651F 1953C>T COAD-US 3 195597006 195597006 deletion of <=200bp G - 3_prime_UTR_variant COAD-US 3 195597006 195597006 deletion of <=200bp G - downstream_gene_variant COAD-US 3 195597006 195597006 deletion of <=200bp G - exon_variant COAD-US 3 195597006 195597006 deletion of <=200bp G - frameshift_variant Q117 COAD-US 3 195597006 195597006 deletion of <=200bp G - frameshift_variant Q153 COAD-US 3 195597006 195597006 deletion of <=200bp G - frameshift_variant Q508 COAD-US 3 195597006 195597006 deletion of <=200bp G - frameshift_variant Q540 COAD-US 3 195597006 195597006 deletion of <=200bp G - frameshift_variant Q571 COAD-US 3 195597006 195597006 deletion of <=200bp G - frameshift_variant Q60 COAD-US 3 195597006 195597006 deletion of <=200bp G - upstream_gene_variant COAD-US 3 195597045 195597045 insertion of <=200bp - G 3_prime_UTR_variant COAD-US 3 195597045 195597045 insertion of <=200bp - G downstream_gene_variant COAD-US 3 195597045 195597045 insertion of <=200bp - G exon_variant COAD-US 3 195597045 195597045 insertion of <=200bp - G frameshift_variant D104A? COAD-US 3 195597045 195597045 insertion of <=200bp - G frameshift_variant D140A? COAD-US 3 195597045 195597045 insertion of <=200bp - G frameshift_variant D47A? COAD-US 3 195597045 195597045 insertion of <=200bp - G frameshift_variant D495A? COAD-US 3 195597045 195597045 insertion of <=200bp - G frameshift_variant D527A? COAD-US 3 195597045 195597045 insertion of <=200bp - G frameshift_variant D558A? COAD-US 3 195597045 195597045 insertion of <=200bp - G upstream_gene_variant COAD-US 3 195608936 195608936 single base substitution C A 3_prime_UTR_variant COAD-US 3 195608936 195608936 single base substitution C A downstream_gene_variant COAD-US 3 195608936 195608936 single base substitution C A exon_variant COAD-US 3 195608936 195608936 single base substitution C A intron_variant COAD-US 3 195608936 195608936 single base substitution C A missense_variant K215N 645G>T COAD-US 3 195608936 195608936 single base substitution C A missense_variant K291N 873G>T COAD-US 3 195608936 195608936 single base substitution C A missense_variant K323N 969G>T COAD-US 3 195608936 195608936 single base substitution C A missense_variant K354N 1062G>T COAD-US 3 195608936 195608936 single base substitution C A upstream_gene_variant COAD-US 3 195608957 195608957 single base substitution G A 3_prime_UTR_variant COAD-US 3 195608957 195608957 single base substitution G A downstream_gene_variant COAD-US 3 195608957 195608957 single base substitution G A exon_variant COAD-US 3 195608957 195608957 single base substitution G A intron_variant COAD-US 3 195608957 195608957 single base substitution G A synonymous_variant Y208Y 624C>T COAD-US 3 195608957 195608957 single base substitution G A synonymous_variant Y284Y 852C>T COAD-US 3 195608957 195608957 single base substitution G A synonymous_variant Y316Y 948C>T COAD-US 3 195608957 195608957 single base substitution G A synonymous_variant Y347Y 1041C>T COAD-US 3 195608957 195608957 single base substitution G A upstream_gene_variant COAD-US 3 195609019 195609019 single base substitution C T 3_prime_UTR_variant COAD-US 3 195609019 195609019 single base substitution C T downstream_gene_variant COAD-US 3 195609019 195609019 single base substitution C T exon_variant COAD-US 3 195609019 195609019 single base substitution C T intron_variant COAD-US 3 195609019 195609019 single base substitution C T missense_variant D188N 562G>A COAD-US 3 195609019 195609019 single base substitution C T missense_variant D264N 790G>A COAD-US 3 195609019 195609019 single base substitution C T missense_variant D296N 886G>A COAD-US 3 195609019 195609019 single base substitution C T missense_variant D327N 979G>A COAD-US 3 195609019 195609019 single base substitution C T upstream_gene_variant COAD-US 3 195611813 195611813 single base substitution G A 3_prime_UTR_variant COAD-US 3 195611813 195611813 single base substitution G A downstream_gene_variant COAD-US 3 195611813 195611813 single base substitution G A exon_variant COAD-US 3 195611813 195611813 single base substitution G A intron_variant COAD-US 3 195611813 195611813 single base substitution G A missense_variant A109V 326C>T COAD-US 3 195611813 195611813 single base substitution G A missense_variant A141V 422C>T COAD-US 3 195611813 195611813 single base substitution G A missense_variant A172V 515C>T COCA-CN 3 195591184 195591184 single base substitution A C downstream_gene_variant COCA-CN 3 195591184 195591184 single base substitution A C intron_variant COCA-CN 3 195595154 195595154 single base substitution G A 3_prime_UTR_variant COCA-CN 3 195595154 195595154 single base substitution G A downstream_gene_variant COCA-CN 3 195595154 195595154 single base substitution G A exon_variant COCA-CN 3 195595154 195595154 single base substitution G A missense_variant A224V 671C>T COCA-CN 3 195595154 195595154 single base substitution G A missense_variant A657V 1970C>T COCA-CN 3 195595154 195595154 single base substitution G A missense_variant A689V 2066C>T COCA-CN 3 195595154 195595154 single base substitution G A missense_variant A735V 2204C>T COCA-CN 3 195595323 195595323 single base substitution C T 3_prime_UTR_variant COCA-CN 3 195595323 195595323 single base substitution C T downstream_gene_variant COCA-CN 3 195595323 195595323 single base substitution C T exon_variant COCA-CN 3 195595323 195595323 single base substitution C T intron_variant COCA-CN 3 195595323 195595323 single base substitution C T missense_variant D168N 502G>A COCA-CN 3 195595323 195595323 single base substitution C T missense_variant D210N 628G>A COCA-CN 3 195595323 195595323 single base substitution C T missense_variant D601N 1801G>A COCA-CN 3 195595323 195595323 single base substitution C T missense_variant D633N 1897G>A COCA-CN 3 195595323 195595323 single base substitution C T missense_variant D679N 2035G>A COCA-CN 3 195595365 195595365 single base substitution G A 3_prime_UTR_variant COCA-CN 3 195595365 195595365 single base substitution G A downstream_gene_variant COCA-CN 3 195595365 195595365 single base substitution G A exon_variant COCA-CN 3 195595365 195595365 single base substitution G A intron_variant COCA-CN 3 195595365 195595365 single base substitution G A missense_variant P154S 460C>T COCA-CN 3 195595365 195595365 single base substitution G A missense_variant P196S 586C>T COCA-CN 3 195595365 195595365 single base substitution G A missense_variant P587S 1759C>T COCA-CN 3 195595365 195595365 single base substitution G A missense_variant P619S 1855C>T COCA-CN 3 195595365 195595365 single base substitution G A missense_variant P665S 1993C>T COCA-CN 3 195602324 195602324 single base substitution G C downstream_gene_variant COCA-CN 3 195602324 195602324 single base substitution G C intron_variant COCA-CN 3 195602324 195602324 single base substitution G C upstream_gene_variant COCA-CN 3 195608986 195608986 single base substitution G A 3_prime_UTR_variant COCA-CN 3 195608986 195608986 single base substitution G A downstream_gene_variant COCA-CN 3 195608986 195608986 single base substitution G A exon_variant COCA-CN 3 195608986 195608986 single base substitution G A intron_variant COCA-CN 3 195608986 195608986 single base substitution G A stop_gained R199* 595C>T COCA-CN 3 195608986 195608986 single base substitution G A stop_gained R275* 823C>T COCA-CN 3 195608986 195608986 single base substitution G A stop_gained R307* 919C>T COCA-CN 3 195608986 195608986 single base substitution G A stop_gained R338* 1012C>T COCA-CN 3 195608986 195608986 single base substitution G A upstream_gene_variant COCA-CN 3 195608998 195608998 single base substitution A C 3_prime_UTR_variant COCA-CN 3 195608998 195608998 single base substitution A C downstream_gene_variant COCA-CN 3 195608998 195608998 single base substitution A C exon_variant COCA-CN 3 195608998 195608998 single base substitution A C intron_variant COCA-CN 3 195608998 195608998 single base substitution A C missense_variant F195V 583T>G COCA-CN 3 195608998 195608998 single base substitution A C missense_variant F271V 811T>G COCA-CN 3 195608998 195608998 single base substitution A C missense_variant F303V 907T>G COCA-CN 3 195608998 195608998 single base substitution A C missense_variant F334V 1000T>G COCA-CN 3 195608998 195608998 single base substitution A C upstream_gene_variant COCA-CN 3 195609428 195609428 single base substitution G A downstream_gene_variant COCA-CN 3 195609428 195609428 single base substitution G A intron_variant COCA-CN 3 195609428 195609428 single base substitution G A upstream_gene_variant COCA-CN 3 195613857 195613857 single base substitution C A exon_variant COCA-CN 3 195613857 195613857 single base substitution C A intron_variant COCA-CN 3 195613857 195613857 single base substitution C A missense_variant W107C 321G>T COCA-CN 3 195613857 195613857 single base substitution C A missense_variant W138C 414G>T COCA-CN 3 195613857 195613857 single base substitution C A missense_variant W139C 417G>T COCA-CN 3 195613857 195613857 single base substitution C A missense_variant W73C 219G>T COCA-CN 3 195613857 195613857 single base substitution C A missense_variant W75C 225G>T COCA-CN 3 195613857 195613857 single base substitution C A upstream_gene_variant COCA-CN 3 195613965 195613965 single base substitution C A intron_variant COCA-CN 3 195613965 195613965 single base substitution C A upstream_gene_variant EOPC-DE 3 195592514 195592514 single base substitution A G downstream_gene_variant EOPC-DE 3 195592514 195592514 single base substitution A G intron_variant EOPC-DE 3 195597828 195597828 single base substitution G T downstream_gene_variant EOPC-DE 3 195597828 195597828 single base substitution G T intron_variant EOPC-DE 3 195597828 195597828 single base substitution G T upstream_gene_variant EOPC-DE 3 195600916 195600916 single base substitution C G downstream_gene_variant EOPC-DE 3 195600916 195600916 single base substitution C G intron_variant EOPC-DE 3 195600916 195600916 single base substitution C G upstream_gene_variant EOPC-DE 3 195601386 195601386 single base substitution A G downstream_gene_variant EOPC-DE 3 195601386 195601386 single base substitution A G intron_variant EOPC-DE 3 195601386 195601386 single base substitution A G upstream_gene_variant EOPC-DE 3 195601403 195601403 single base substitution A G downstream_gene_variant EOPC-DE 3 195601403 195601403 single base substitution A G intron_variant EOPC-DE 3 195601403 195601403 single base substitution A G upstream_gene_variant EOPC-DE 3 195602333 195602333 single base substitution G A downstream_gene_variant EOPC-DE 3 195602333 195602333 single base substitution G A intron_variant EOPC-DE 3 195602333 195602333 single base substitution G A upstream_gene_variant EOPC-DE 3 195607302 195607302 single base substitution A G downstream_gene_variant EOPC-DE 3 195607302 195607302 single base substitution A G intron_variant EOPC-DE 3 195607302 195607302 single base substitution A G upstream_gene_variant EOPC-DE 3 195634169 195634169 single base substitution A C intron_variant EOPC-DE 3 195637789 195637789 single base substitution C T intron_variant EOPC-DE 3 195637789 195637789 single base substitution C T upstream_gene_variant ESAD-UK 3 195585855 195585855 deletion of <=200bp A - downstream_gene_variant ESAD-UK 3 195586587 195586587 single base substitution C T downstream_gene_variant ESAD-UK 3 195587879 195587879 single base substitution G T downstream_gene_variant ESAD-UK 3 195588406 195588406 single base substitution C T downstream_gene_variant ESAD-UK 3 195589190 195589190 single base substitution C T downstream_gene_variant ESAD-UK 3 195589611 195589611 single base substitution A G downstream_gene_variant ESAD-UK 3 195590484 195590484 single base substitution T C 3_prime_UTR_variant ESAD-UK 3 195590484 195590484 single base substitution T C downstream_gene_variant ESAD-UK 3 195590484 195590484 single base substitution T C exon_variant ESAD-UK 3 195591340 195591340 single base substitution C T downstream_gene_variant ESAD-UK 3 195591340 195591340 single base substitution C T intron_variant ESAD-UK 3 195592302 195592302 single base substitution A G downstream_gene_variant ESAD-UK 3 195592302 195592302 single base substitution A G intron_variant ESAD-UK 3 195592366 195592366 insertion of <=200bp - T downstream_gene_variant ESAD-UK 3 195592366 195592366 insertion of <=200bp - T intron_variant ESAD-UK 3 195593174 195593174 single base substitution C G downstream_gene_variant ESAD-UK 3 195593174 195593174 single base substitution C G intron_variant ESAD-UK 3 195595024 195595024 single base substitution G A downstream_gene_variant ESAD-UK 3 195595024 195595024 single base substitution G A exon_variant ESAD-UK 3 195595024 195595024 single base substitution G A synonymous_variant S267S 801C>T ESAD-UK 3 195595024 195595024 single base substitution G A synonymous_variant S700S 2100C>T ESAD-UK 3 195595024 195595024 single base substitution G A synonymous_variant S732S 2196C>T ESAD-UK 3 195595024 195595024 single base substitution G A synonymous_variant S778S 2334C>T ESAD-UK 3 195595316 195595316 single base substitution G T 3_prime_UTR_variant ESAD-UK 3 195595316 195595316 single base substitution G T downstream_gene_variant ESAD-UK 3 195595316 195595316 single base substitution G T exon_variant ESAD-UK 3 195595316 195595316 single base substitution G T intron_variant ESAD-UK 3 195595316 195595316 single base substitution G T missense_variant T170N 509C>A ESAD-UK 3 195595316 195595316 single base substitution G T missense_variant T212N 635C>A ESAD-UK 3 195595316 195595316 single base substitution G T missense_variant T603N 1808C>A ESAD-UK 3 195595316 195595316 single base substitution G T missense_variant T635N 1904C>A ESAD-UK 3 195595316 195595316 single base substitution G T missense_variant T681N 2042C>A ESAD-UK 3 195596483 195596483 single base substitution G T downstream_gene_variant ESAD-UK 3 195596483 195596483 single base substitution G T exon_variant ESAD-UK 3 195596483 195596483 single base substitution G T intron_variant ESAD-UK 3 195597241 195597241 single base substitution G A downstream_gene_variant ESAD-UK 3 195597241 195597241 single base substitution G A exon_variant ESAD-UK 3 195597241 195597241 single base substitution G A intron_variant ESAD-UK 3 195597241 195597241 single base substitution G A missense_variant P496S 1486C>T ESAD-UK 3 195597241 195597241 single base substitution G A upstream_gene_variant ESAD-UK 3 195597756 195597756 single base substitution G A downstream_gene_variant ESAD-UK 3 195597756 195597756 single base substitution G A intron_variant ESAD-UK 3 195597756 195597756 single base substitution G A upstream_gene_variant ESAD-UK 3 195598089 195598089 single base substitution C T downstream_gene_variant ESAD-UK 3 195598089 195598089 single base substitution C T intron_variant ESAD-UK 3 195598089 195598089 single base substitution C T upstream_gene_variant ESAD-UK 3 195602899 195602899 single base substitution G C downstream_gene_variant ESAD-UK 3 195602899 195602899 single base substitution G C intron_variant ESAD-UK 3 195602899 195602899 single base substitution G C upstream_gene_variant ESAD-UK 3 195607089 195607089 single base substitution G C downstream_gene_variant ESAD-UK 3 195607089 195607089 single base substitution G C intron_variant ESAD-UK 3 195607089 195607089 single base substitution G C upstream_gene_variant ESAD-UK 3 195610003 195610003 single base substitution G A downstream_gene_variant ESAD-UK 3 195610003 195610003 single base substitution G A intron_variant ESAD-UK 3 195610003 195610003 single base substitution G A upstream_gene_variant ESAD-UK 3 195612387 195612387 single base substitution C A 3_prime_UTR_variant ESAD-UK 3 195612387 195612387 single base substitution C A downstream_gene_variant ESAD-UK 3 195612387 195612387 single base substitution C A exon_variant ESAD-UK 3 195612387 195612387 single base substitution C A intron_variant ESAD-UK 3 195612387 195612387 single base substitution C A upstream_gene_variant ESAD-UK 3 195612453 195612453 single base substitution C T downstream_gene_variant ESAD-UK 3 195612453 195612453 single base substitution C T exon_variant ESAD-UK 3 195612453 195612453 single base substitution C T intron_variant ESAD-UK 3 195612453 195612453 single base substitution C T upstream_gene_variant ESAD-UK 3 195612578 195612578 single base substitution C T downstream_gene_variant ESAD-UK 3 195612578 195612578 single base substitution C T exon_variant ESAD-UK 3 195612578 195612578 single base substitution C T intron_variant ESAD-UK 3 195612578 195612578 single base substitution C T upstream_gene_variant ESAD-UK 3 195613022 195613022 single base substitution C T downstream_gene_variant ESAD-UK 3 195613022 195613022 single base substitution C T exon_variant ESAD-UK 3 195613022 195613022 single base substitution C T intron_variant ESAD-UK 3 195613022 195613022 single base substitution C T upstream_gene_variant ESAD-UK 3 195613264 195613264 single base substitution A T downstream_gene_variant ESAD-UK 3 195613264 195613264 single base substitution A T intron_variant ESAD-UK 3 195613264 195613264 single base substitution A T upstream_gene_variant ESAD-UK 3 195614652 195614652 insertion of <=200bp - GT intron_variant ESAD-UK 3 195614652 195614652 insertion of <=200bp - GT upstream_gene_variant ESAD-UK 3 195614653 195614653 single base substitution C T intron_variant ESAD-UK 3 195614653 195614653 single base substitution C T upstream_gene_variant ESAD-UK 3 195615252 195615252 single base substitution G A intron_variant ESAD-UK 3 195615252 195615252 single base substitution G A upstream_gene_variant ESAD-UK 3 195617303 195617303 insertion of <=200bp - A intron_variant ESAD-UK 3 195617303 195617303 insertion of <=200bp - A upstream_gene_variant ESAD-UK 3 195619415 195619415 single base substitution C T 5_prime_UTR_variant ESAD-UK 3 195619415 195619415 single base substitution C T exon_variant ESAD-UK 3 195619415 195619415 single base substitution C T intron_variant ESAD-UK 3 195619415 195619415 single base substitution C T upstream_gene_variant ESAD-UK 3 195619856 195619856 single base substitution G A intron_variant ESAD-UK 3 195619856 195619856 single base substitution G A upstream_gene_variant ESAD-UK 3 195622078 195622078 single base substitution G A intron_variant ESAD-UK 3 195622078 195622078 single base substitution G A upstream_gene_variant ESAD-UK 3 195622558 195622558 single base substitution C T intron_variant ESAD-UK 3 195622558 195622558 single base substitution C T upstream_gene_variant ESAD-UK 3 195625003 195625003 single base substitution C T intron_variant ESAD-UK 3 195625003 195625003 single base substitution C T upstream_gene_variant ESAD-UK 3 195626908 195626908 single base substitution C T intron_variant ESAD-UK 3 195626908 195626908 single base substitution C T upstream_gene_variant ESAD-UK 3 195628198 195628198 single base substitution C T intron_variant ESAD-UK 3 195628198 195628198 single base substitution C T upstream_gene_variant ESAD-UK 3 195635172 195635172 single base substitution T G intron_variant ESAD-UK 3 195638131 195638131 deletion of <=200bp A - intron_variant ESAD-UK 3 195638131 195638131 deletion of <=200bp A - upstream_gene_variant ESAD-UK 3 195638525 195638525 deletion of <=200bp C - intron_variant ESAD-UK 3 195638525 195638525 deletion of <=200bp C - upstream_gene_variant ESAD-UK 3 195638604 195638604 single base substitution T A intron_variant ESAD-UK 3 195638604 195638604 single base substitution T A upstream_gene_variant ESAD-UK 3 195639358 195639358 single base substitution T C upstream_gene_variant ESAD-UK 3 195640618 195640618 single base substitution T G upstream_gene_variant ESAD-UK 3 195642083 195642083 single base substitution A C upstream_gene_variant ESAD-UK 3 195643068 195643068 single base substitution C A upstream_gene_variant ESCA-CN 3 195606019 195606019 single base substitution G A 3_prime_UTR_variant ESCA-CN 3 195606019 195606019 single base substitution G A exon_variant ESCA-CN 3 195606019 195606019 single base substitution G A intron_variant ESCA-CN 3 195606019 195606019 single base substitution G A synonymous_variant R229R 687C>T ESCA-CN 3 195606019 195606019 single base substitution G A synonymous_variant R305R 915C>T ESCA-CN 3 195606019 195606019 single base substitution G A synonymous_variant R337R 1011C>T ESCA-CN 3 195606019 195606019 single base substitution G A synonymous_variant R368R 1104C>T ESCA-CN 3 195606019 195606019 single base substitution G A upstream_gene_variant GBM-US 3 195595228 195595228 insertion of <=200bp - G 3_prime_UTR_variant GBM-US 3 195595228 195595228 insertion of <=200bp - G downstream_gene_variant GBM-US 3 195595228 195595228 insertion of <=200bp - G exon_variant GBM-US 3 195595228 195595228 insertion of <=200bp - G frameshift_variant P199P? GBM-US 3 195595228 195595228 insertion of <=200bp - G frameshift_variant P241P? GBM-US 3 195595228 195595228 insertion of <=200bp - G frameshift_variant P632P? GBM-US 3 195595228 195595228 insertion of <=200bp - G frameshift_variant P664P? GBM-US 3 195595228 195595228 insertion of <=200bp - G frameshift_variant P710P? GBM-US 3 195595228 195595228 insertion of <=200bp - G intron_variant GBM-US 3 195597005 195597005 insertion of <=200bp - G 3_prime_UTR_variant GBM-US 3 195597005 195597005 insertion of <=200bp - G downstream_gene_variant GBM-US 3 195597005 195597005 insertion of <=200bp - G exon_variant GBM-US 3 195597005 195597005 insertion of <=200bp - G frameshift_variant Q117H? GBM-US 3 195597005 195597005 insertion of <=200bp - G frameshift_variant Q153H? GBM-US 3 195597005 195597005 insertion of <=200bp - G frameshift_variant Q508H? GBM-US 3 195597005 195597005 insertion of <=200bp - G frameshift_variant Q540H? GBM-US 3 195597005 195597005 insertion of <=200bp - G frameshift_variant Q571H? GBM-US 3 195597005 195597005 insertion of <=200bp - G frameshift_variant Q60H? GBM-US 3 195597005 195597005 insertion of <=200bp - G upstream_gene_variant GBM-US 3 195599202 195599203 deletion of <=200bp CT - exon_variant GBM-US 3 195599202 195599203 deletion of <=200bp CT - frameshift_variant TG110 GBM-US 3 195599202 195599203 deletion of <=200bp CT - frameshift_variant TG17 GBM-US 3 195599202 195599203 deletion of <=200bp CT - frameshift_variant TG465 GBM-US 3 195599202 195599203 deletion of <=200bp CT - frameshift_variant TG497 GBM-US 3 195599202 195599203 deletion of <=200bp CT - frameshift_variant TG528 GBM-US 3 195599202 195599203 deletion of <=200bp CT - frameshift_variant TG74 GBM-US 3 195599202 195599203 deletion of <=200bp CT - upstream_gene_variant GBM-US 3 195611779 195611779 single base substitution G C 3_prime_UTR_variant GBM-US 3 195611779 195611779 single base substitution G C downstream_gene_variant GBM-US 3 195611779 195611779 single base substitution G C exon_variant GBM-US 3 195611779 195611779 single base substitution G C intron_variant GBM-US 3 195611779 195611779 single base substitution G C synonymous_variant L120L 360C>G GBM-US 3 195611779 195611779 single base substitution G C synonymous_variant L152L 456C>G GBM-US 3 195611779 195611779 single base substitution G C synonymous_variant L183L 549C>G KIRC-US 3 195594610 195594610 single base substitution C T downstream_gene_variant KIRC-US 3 195594610 195594610 single base substitution C T exon_variant KIRC-US 3 195594610 195594610 single base substitution C T synonymous_variant P405P 1215G>A KIRC-US 3 195594610 195594610 single base substitution C T synonymous_variant P838P 2514G>A KIRC-US 3 195594610 195594610 single base substitution C T synonymous_variant P870P 2610G>A KIRC-US 3 195594610 195594610 single base substitution C T synonymous_variant P916P 2748G>A KIRP-US 3 195615329 195615329 single base substitution T C exon_variant KIRP-US 3 195615329 195615329 single base substitution T C intron_variant KIRP-US 3 195615329 195615329 single base substitution T C missense_variant E107G 320A>G KIRP-US 3 195615329 195615329 single base substitution T C missense_variant E108G 323A>G KIRP-US 3 195615329 195615329 single base substitution T C missense_variant E42G 125A>G KIRP-US 3 195615329 195615329 single base substitution T C missense_variant E44G 131A>G KIRP-US 3 195615329 195615329 single base substitution T C missense_variant E76G 227A>G KIRP-US 3 195615329 195615329 single base substitution T C upstream_gene_variant LAML-KR 3 195591372 195591372 single base substitution C T downstream_gene_variant LAML-KR 3 195591372 195591372 single base substitution C T intron_variant LAML-KR 3 195591763 195591763 single base substitution G A downstream_gene_variant LAML-KR 3 195591763 195591763 single base substitution G A intron_variant LAML-KR 3 195591860 195591860 single base substitution C T downstream_gene_variant LAML-KR 3 195591860 195591860 single base substitution C T intron_variant LAML-KR 3 195591893 195591893 single base substitution G A downstream_gene_variant LAML-KR 3 195591893 195591893 single base substitution G A intron_variant LAML-KR 3 195592201 195592201 single base substitution G C downstream_gene_variant LAML-KR 3 195592201 195592201 single base substitution G C intron_variant LAML-KR 3 195592483 195592483 single base substitution A G downstream_gene_variant LAML-KR 3 195592483 195592483 single base substitution A G intron_variant LAML-KR 3 195592568 195592568 single base substitution C T downstream_gene_variant LAML-KR 3 195592568 195592568 single base substitution C T intron_variant LAML-KR 3 195598863 195598863 single base substitution C A downstream_gene_variant LAML-KR 3 195598863 195598863 single base substitution C A intron_variant LAML-KR 3 195598863 195598863 single base substitution C A upstream_gene_variant LAML-KR 3 195598864 195598864 single base substitution C T downstream_gene_variant LAML-KR 3 195598864 195598864 single base substitution C T intron_variant LAML-KR 3 195598864 195598864 single base substitution C T upstream_gene_variant LAML-KR 3 195601403 195601403 single base substitution A G downstream_gene_variant LAML-KR 3 195601403 195601403 single base substitution A G intron_variant LAML-KR 3 195601403 195601403 single base substitution A G upstream_gene_variant LAML-KR 3 195601444 195601444 single base substitution A G downstream_gene_variant LAML-KR 3 195601444 195601444 single base substitution A G intron_variant LAML-KR 3 195601444 195601444 single base substitution A G upstream_gene_variant LAML-KR 3 195607302 195607302 single base substitution A G downstream_gene_variant LAML-KR 3 195607302 195607302 single base substitution A G intron_variant LAML-KR 3 195607302 195607302 single base substitution A G upstream_gene_variant LICA-CN 3 195594513 195594513 single base substitution G A downstream_gene_variant LICA-CN 3 195594513 195594513 single base substitution G A exon_variant LICA-CN 3 195594513 195594513 single base substitution G A missense_variant R438C 1312C>T LICA-CN 3 195594513 195594513 single base substitution G A missense_variant R871C 2611C>T LICA-CN 3 195594513 195594513 single base substitution G A missense_variant R903C 2707C>T LICA-CN 3 195594513 195594513 single base substitution G A missense_variant R949C 2845C>T LICA-FR 3 195590625 195590625 single base substitution C T 3_prime_UTR_variant LICA-FR 3 195590625 195590625 single base substitution C T downstream_gene_variant LICA-FR 3 195590625 195590625 single base substitution C T exon_variant LICA-FR 3 195594340 195594340 single base substitution G A downstream_gene_variant LICA-FR 3 195594340 195594340 single base substitution G A exon_variant LICA-FR 3 195594340 195594340 single base substitution G A synonymous_variant S1006S 3018C>T LICA-FR 3 195594340 195594340 single base substitution G A synonymous_variant S495S 1485C>T LICA-FR 3 195594340 195594340 single base substitution G A synonymous_variant S928S 2784C>T LICA-FR 3 195594340 195594340 single base substitution G A synonymous_variant S960S 2880C>T LICA-FR 3 195595036 195595036 single base substitution C T downstream_gene_variant LICA-FR 3 195595036 195595036 single base substitution C T exon_variant LICA-FR 3 195595036 195595036 single base substitution C T synonymous_variant K263K 789G>A LICA-FR 3 195595036 195595036 single base substitution C T synonymous_variant K696K 2088G>A LICA-FR 3 195595036 195595036 single base substitution C T synonymous_variant K728K 2184G>A LICA-FR 3 195595036 195595036 single base substitution C T synonymous_variant K774K 2322G>A LICA-FR 3 195595224 195595224 single base substitution C A 3_prime_UTR_variant LICA-FR 3 195595224 195595224 single base substitution C A downstream_gene_variant LICA-FR 3 195595224 195595224 single base substitution C A exon_variant LICA-FR 3 195595224 195595224 single base substitution C A intron_variant LICA-FR 3 195595224 195595224 single base substitution C A missense_variant A201S 601G>T LICA-FR 3 195595224 195595224 single base substitution C A missense_variant A634S 1900G>T LICA-FR 3 195595224 195595224 single base substitution C A missense_variant A666S 1996G>T LICA-FR 3 195595224 195595224 single base substitution C A missense_variant A712S 2134G>T LICA-FR 3 195597064 195597064 single base substitution T C 3_prime_UTR_variant LICA-FR 3 195597064 195597064 single base substitution T C downstream_gene_variant LICA-FR 3 195597064 195597064 single base substitution T C exon_variant LICA-FR 3 195597064 195597064 single base substitution T C synonymous_variant G133G 399A>G LICA-FR 3 195597064 195597064 single base substitution T C synonymous_variant G40G 120A>G LICA-FR 3 195597064 195597064 single base substitution T C synonymous_variant G488G 1464A>G LICA-FR 3 195597064 195597064 single base substitution T C synonymous_variant G520G 1560A>G LICA-FR 3 195597064 195597064 single base substitution T C synonymous_variant G551G 1653A>G LICA-FR 3 195597064 195597064 single base substitution T C synonymous_variant G97G 291A>G LICA-FR 3 195597064 195597064 single base substitution T C upstream_gene_variant LICA-FR 3 195598871 195598871 single base substitution G A downstream_gene_variant LICA-FR 3 195598871 195598871 single base substitution G A intron_variant LICA-FR 3 195598871 195598871 single base substitution G A upstream_gene_variant LICA-FR 3 195614923 195614923 single base substitution T G intron_variant LICA-FR 3 195614923 195614923 single base substitution T G upstream_gene_variant LICA-FR 3 195622265 195622265 single base substitution C T 5_prime_UTR_variant LICA-FR 3 195622265 195622265 single base substitution C T intron_variant LICA-FR 3 195622265 195622265 single base substitution C T missense_variant R8K 23G>A LICA-FR 3 195622265 195622265 single base substitution C T upstream_gene_variant LICA-FR 3 195631602 195631602 single base substitution G T intron_variant LIHC-US 3 195594061 195594061 single base substitution C A downstream_gene_variant LIHC-US 3 195594061 195594061 single base substitution C A exon_variant LIHC-US 3 195594061 195594061 single base substitution C A intron_variant LIHC-US 3 195594061 195594061 single base substitution C A missense_variant Q556H 1668G>T LIHC-US 3 195594061 195594061 single base substitution C A missense_variant Q987H 2961G>T LIHC-US 3 195596397 195596397 single base substitution C T 3_prime_UTR_variant LIHC-US 3 195596397 195596397 single base substitution C T downstream_gene_variant LIHC-US 3 195596397 195596397 single base substitution C T exon_variant LIHC-US 3 195596397 195596397 single base substitution C T intron_variant LIHC-US 3 195596397 195596397 single base substitution C T missense_variant R583H 1748G>A LIHC-US 3 195596397 195596397 single base substitution C T missense_variant R72H 215G>A LIHC-US 3 195605439 195605439 single base substitution C A downstream_gene_variant LIHC-US 3 195605439 195605439 single base substitution C A exon_variant LIHC-US 3 195605439 195605439 single base substitution C A intron_variant LIHC-US 3 195605439 195605439 single base substitution C A missense_variant G271W 811G>T LIHC-US 3 195605439 195605439 single base substitution C A missense_variant G347W 1039G>T LIHC-US 3 195605439 195605439 single base substitution C A missense_variant G379W 1135G>T LIHC-US 3 195605439 195605439 single base substitution C A missense_variant G410W 1228G>T LIHC-US 3 195605439 195605439 single base substitution C A upstream_gene_variant LIHC-US 3 195609177 195609177 single base substitution C A 3_prime_UTR_variant LIHC-US 3 195609177 195609177 single base substitution C A downstream_gene_variant LIHC-US 3 195609177 195609177 single base substitution C A exon_variant LIHC-US 3 195609177 195609177 single base substitution C A intron_variant LIHC-US 3 195609177 195609177 single base substitution C A missense_variant G135V 404G>T LIHC-US 3 195609177 195609177 single base substitution C A missense_variant G211V 632G>T LIHC-US 3 195609177 195609177 single base substitution C A missense_variant G243V 728G>T LIHC-US 3 195609177 195609177 single base substitution C A missense_variant G274V 821G>T LIHC-US 3 195609177 195609177 single base substitution C A upstream_gene_variant LINC-JP 3 195593802 195593802 single base substitution G T downstream_gene_variant LINC-JP 3 195593802 195593802 single base substitution G T exon_variant LINC-JP 3 195593802 195593802 single base substitution G T missense_variant A1023D 3068C>A LINC-JP 3 195593802 195593802 single base substitution G T missense_variant A1025D 3074C>A LINC-JP 3 195593802 195593802 single base substitution G T missense_variant A1071D 3212C>A LINC-JP 3 195593802 195593802 single base substitution G T missense_variant A592D 1775C>A LINC-JP 3 195595326 195595326 single base substitution G T 3_prime_UTR_variant LINC-JP 3 195595326 195595326 single base substitution G T downstream_gene_variant LINC-JP 3 195595326 195595326 single base substitution G T exon_variant LINC-JP 3 195595326 195595326 single base substitution G T intron_variant LINC-JP 3 195595326 195595326 single base substitution G T missense_variant L167M 499C>A LINC-JP 3 195595326 195595326 single base substitution G T missense_variant L209M 625C>A LINC-JP 3 195595326 195595326 single base substitution G T missense_variant L600M 1798C>A LINC-JP 3 195595326 195595326 single base substitution G T missense_variant L632M 1894C>A LINC-JP 3 195595326 195595326 single base substitution G T missense_variant L678M 2032C>A LINC-JP 3 195596509 195596509 single base substitution C G downstream_gene_variant LINC-JP 3 195596509 195596509 single base substitution C G exon_variant LINC-JP 3 195596509 195596509 single base substitution C G intron_variant LINC-JP 3 195597238 195597238 single base substitution C A downstream_gene_variant LINC-JP 3 195597238 195597238 single base substitution C A exon_variant LINC-JP 3 195597238 195597238 single base substitution C A intron_variant LINC-JP 3 195597238 195597238 single base substitution C A missense_variant A497S 1489G>T LINC-JP 3 195597238 195597238 single base substitution C A upstream_gene_variant LINC-JP 3 195598512 195598512 single base substitution G T downstream_gene_variant LINC-JP 3 195598512 195598512 single base substitution G T intron_variant LINC-JP 3 195598512 195598512 single base substitution G T upstream_gene_variant LINC-JP 3 195598833 195598833 single base substitution C A downstream_gene_variant LINC-JP 3 195598833 195598833 single base substitution C A intron_variant LINC-JP 3 195598833 195598833 single base substitution C A upstream_gene_variant LINC-JP 3 195605456 195605456 single base substitution T A downstream_gene_variant LINC-JP 3 195605456 195605456 single base substitution T A exon_variant LINC-JP 3 195605456 195605456 single base substitution T A intron_variant LINC-JP 3 195605456 195605456 single base substitution T A missense_variant H265L 794A>T LINC-JP 3 195605456 195605456 single base substitution T A missense_variant H341L 1022A>T LINC-JP 3 195605456 195605456 single base substitution T A missense_variant H373L 1118A>T LINC-JP 3 195605456 195605456 single base substitution T A missense_variant H404L 1211A>T LINC-JP 3 195605456 195605456 single base substitution T A upstream_gene_variant LINC-JP 3 195612532 195612532 single base substitution G A downstream_gene_variant LINC-JP 3 195612532 195612532 single base substitution G A exon_variant LINC-JP 3 195612532 195612532 single base substitution G A intron_variant LINC-JP 3 195612532 195612532 single base substitution G A upstream_gene_variant LINC-JP 3 195623059 195623059 single base substitution T A intron_variant LINC-JP 3 195623059 195623059 single base substitution T A missense_variant R13S 39A>T LINC-JP 3 195623059 195623059 single base substitution T A upstream_gene_variant LINC-JP 3 195635840 195635840 single base substitution T C 5_prime_UTR_variant LINC-JP 3 195635840 195635840 single base substitution T C intron_variant LIRI-JP 3 195585272 195585272 single base substitution G A downstream_gene_variant LIRI-JP 3 195588029 195588029 single base substitution G A downstream_gene_variant LIRI-JP 3 195588933 195588933 single base substitution G A downstream_gene_variant LIRI-JP 3 195590866 195590866 single base substitution C G 3_prime_UTR_variant LIRI-JP 3 195590866 195590866 single base substitution C G downstream_gene_variant LIRI-JP 3 195590866 195590866 single base substitution C G exon_variant LIRI-JP 3 195599297 195599297 single base substitution C T exon_variant LIRI-JP 3 195599297 195599297 single base substitution C T missense_variant C434Y 1301G>A LIRI-JP 3 195599297 195599297 single base substitution C T missense_variant C43Y 128G>A LIRI-JP 3 195599297 195599297 single base substitution C T missense_variant C466Y 1397G>A LIRI-JP 3 195599297 195599297 single base substitution C T missense_variant C497Y 1490G>A LIRI-JP 3 195599297 195599297 single base substitution C T missense_variant C79Y 236G>A LIRI-JP 3 195599297 195599297 single base substitution C T upstream_gene_variant LIRI-JP 3 195607232 195607232 single base substitution C T downstream_gene_variant LIRI-JP 3 195607232 195607232 single base substitution C T intron_variant LIRI-JP 3 195607232 195607232 single base substitution C T upstream_gene_variant LIRI-JP 3 195611409 195611409 single base substitution G T downstream_gene_variant LIRI-JP 3 195611409 195611409 single base substitution G T exon_variant LIRI-JP 3 195611409 195611409 single base substitution G T intron_variant LIRI-JP 3 195611431 195611431 single base substitution T A downstream_gene_variant LIRI-JP 3 195611431 195611431 single base substitution T A exon_variant LIRI-JP 3 195611431 195611431 single base substitution T A intron_variant LIRI-JP 3 195611469 195611469 single base substitution G A downstream_gene_variant LIRI-JP 3 195611469 195611469 single base substitution G A exon_variant LIRI-JP 3 195611469 195611469 single base substitution G A intron_variant LIRI-JP 3 195615561 195615561 single base substitution C T intron_variant LIRI-JP 3 195615561 195615561 single base substitution C T upstream_gene_variant LIRI-JP 3 195620557 195620557 single base substitution C T intron_variant LIRI-JP 3 195620557 195620557 single base substitution C T upstream_gene_variant LIRI-JP 3 195624253 195624253 single base substitution G A intron_variant LIRI-JP 3 195624253 195624253 single base substitution G A upstream_gene_variant LIRI-JP 3 195625836 195625836 single base substitution G A intron_variant LIRI-JP 3 195625836 195625836 single base substitution G A upstream_gene_variant LIRI-JP 3 195627206 195627206 single base substitution C T intron_variant LIRI-JP 3 195627206 195627206 single base substitution C T upstream_gene_variant LIRI-JP 3 195629120 195629120 single base substitution C T intron_variant LIRI-JP 3 195629922 195629922 single base substitution G T intron_variant LIRI-JP 3 195631261 195631261 single base substitution T A intron_variant LIRI-JP 3 195633298 195633298 single base substitution T C intron_variant LIRI-JP 3 195633386 195633386 single base substitution T A intron_variant LIRI-JP 3 195633666 195633666 single base substitution A T intron_variant LIRI-JP 3 195634058 195634058 single base substitution T C intron_variant LIRI-JP 3 195637825 195637825 single base substitution C T intron_variant LIRI-JP 3 195637825 195637825 single base substitution C T upstream_gene_variant LIRI-JP 3 195638213 195638213 single base substitution T G intron_variant LIRI-JP 3 195638213 195638213 single base substitution T G upstream_gene_variant LIRI-JP 3 195642139 195642139 single base substitution G C upstream_gene_variant LUSC-KR 3 195585785 195585785 single base substitution T C downstream_gene_variant LUSC-KR 3 195586394 195586394 single base substitution T A downstream_gene_variant LUSC-KR 3 195591398 195591398 single base substitution C G downstream_gene_variant LUSC-KR 3 195591398 195591398 single base substitution C G intron_variant LUSC-KR 3 195591570 195591570 single base substitution A G downstream_gene_variant LUSC-KR 3 195591570 195591570 single base substitution A G intron_variant LUSC-KR 3 195591633 195591633 single base substitution A G downstream_gene_variant LUSC-KR 3 195591633 195591633 single base substitution A G intron_variant LUSC-KR 3 195591665 195591665 single base substitution T C downstream_gene_variant LUSC-KR 3 195591665 195591665 single base substitution T C intron_variant LUSC-KR 3 195591717 195591717 single base substitution A C downstream_gene_variant LUSC-KR 3 195591717 195591717 single base substitution A C intron_variant LUSC-KR 3 195591893 195591893 single base substitution G A downstream_gene_variant LUSC-KR 3 195591893 195591893 single base substitution G A intron_variant LUSC-KR 3 195592025 195592025 single base substitution A G downstream_gene_variant LUSC-KR 3 195592025 195592025 single base substitution A G intron_variant LUSC-KR 3 195592090 195592090 single base substitution A G downstream_gene_variant LUSC-KR 3 195592090 195592090 single base substitution A G intron_variant LUSC-KR 3 195592120 195592120 single base substitution T C downstream_gene_variant LUSC-KR 3 195592120 195592120 single base substitution T C intron_variant LUSC-KR 3 195592336 195592336 single base substitution C G downstream_gene_variant LUSC-KR 3 195592336 195592336 single base substitution C G intron_variant LUSC-KR 3 195592337 195592337 single base substitution C G downstream_gene_variant LUSC-KR 3 195592337 195592337 single base substitution C G intron_variant LUSC-KR 3 195592470 195592470 single base substitution A G downstream_gene_variant LUSC-KR 3 195592470 195592470 single base substitution A G intron_variant LUSC-KR 3 195592483 195592483 single base substitution A G downstream_gene_variant LUSC-KR 3 195592483 195592483 single base substitution A G intron_variant LUSC-KR 3 195592514 195592514 single base substitution A G downstream_gene_variant LUSC-KR 3 195592514 195592514 single base substitution A G intron_variant LUSC-KR 3 195593268 195593268 single base substitution C T downstream_gene_variant LUSC-KR 3 195593268 195593268 single base substitution C T intron_variant LUSC-KR 3 195599577 195599577 single base substitution T C exon_variant LUSC-KR 3 195599577 195599577 single base substitution T C intron_variant LUSC-KR 3 195599577 195599577 single base substitution T C upstream_gene_variant LUSC-KR 3 195600344 195600344 single base substitution G C intron_variant LUSC-KR 3 195600344 195600344 single base substitution G C upstream_gene_variant LUSC-KR 3 195600359 195600359 single base substitution T A intron_variant LUSC-KR 3 195600359 195600359 single base substitution T A upstream_gene_variant LUSC-KR 3 195600369 195600369 single base substitution G C intron_variant LUSC-KR 3 195600369 195600369 single base substitution G C upstream_gene_variant LUSC-KR 3 195602334 195602334 single base substitution G T downstream_gene_variant LUSC-KR 3 195602334 195602334 single base substitution G T intron_variant LUSC-KR 3 195602334 195602334 single base substitution G T upstream_gene_variant LUSC-KR 3 195605752 195605752 single base substitution C T downstream_gene_variant LUSC-KR 3 195605752 195605752 single base substitution C T intron_variant LUSC-KR 3 195605752 195605752 single base substitution C T upstream_gene_variant LUSC-KR 3 195605826 195605826 single base substitution C A downstream_gene_variant LUSC-KR 3 195605826 195605826 single base substitution C A intron_variant LUSC-KR 3 195605826 195605826 single base substitution C A upstream_gene_variant LUSC-KR 3 195607425 195607425 single base substitution A T downstream_gene_variant LUSC-KR 3 195607425 195607425 single base substitution A T intron_variant LUSC-KR 3 195607425 195607425 single base substitution A T upstream_gene_variant LUSC-KR 3 195607488 195607488 single base substitution A C downstream_gene_variant LUSC-KR 3 195607488 195607488 single base substitution A C intron_variant LUSC-KR 3 195607488 195607488 single base substitution A C upstream_gene_variant LUSC-KR 3 195607601 195607601 single base substitution A G downstream_gene_variant LUSC-KR 3 195607601 195607601 single base substitution A G intron_variant LUSC-KR 3 195607601 195607601 single base substitution A G upstream_gene_variant LUSC-KR 3 195607624 195607624 single base substitution A G downstream_gene_variant LUSC-KR 3 195607624 195607624 single base substitution A G intron_variant LUSC-KR 3 195607624 195607624 single base substitution A G upstream_gene_variant LUSC-KR 3 195607660 195607660 single base substitution T C downstream_gene_variant LUSC-KR 3 195607660 195607660 single base substitution T C intron_variant LUSC-KR 3 195607660 195607660 single base substitution T C upstream_gene_variant LUSC-KR 3 195607834 195607834 single base substitution T A downstream_gene_variant LUSC-KR 3 195607834 195607834 single base substitution T A intron_variant LUSC-KR 3 195607834 195607834 single base substitution T A upstream_gene_variant LUSC-KR 3 195608264 195608264 single base substitution G A downstream_gene_variant LUSC-KR 3 195608264 195608264 single base substitution G A intron_variant LUSC-KR 3 195608264 195608264 single base substitution G A upstream_gene_variant LUSC-KR 3 195608314 195608314 single base substitution C A downstream_gene_variant LUSC-KR 3 195608314 195608314 single base substitution C A intron_variant LUSC-KR 3 195608314 195608314 single base substitution C A upstream_gene_variant LUSC-KR 3 195608449 195608449 single base substitution C T downstream_gene_variant LUSC-KR 3 195608449 195608449 single base substitution C T intron_variant LUSC-KR 3 195608449 195608449 single base substitution C T upstream_gene_variant LUSC-KR 3 195609432 195609432 single base substitution G C downstream_gene_variant LUSC-KR 3 195609432 195609432 single base substitution G C intron_variant LUSC-KR 3 195609432 195609432 single base substitution G C upstream_gene_variant LUSC-KR 3 195609513 195609513 single base substitution G C downstream_gene_variant LUSC-KR 3 195609513 195609513 single base substitution G C intron_variant LUSC-KR 3 195609513 195609513 single base substitution G C upstream_gene_variant LUSC-KR 3 195610004 195610004 single base substitution C G downstream_gene_variant LUSC-KR 3 195610004 195610004 single base substitution C G intron_variant LUSC-KR 3 195610004 195610004 single base substitution C G upstream_gene_variant LUSC-KR 3 195612664 195612664 single base substitution G A downstream_gene_variant LUSC-KR 3 195612664 195612664 single base substitution G A exon_variant LUSC-KR 3 195612664 195612664 single base substitution G A intron_variant LUSC-KR 3 195612664 195612664 single base substitution G A upstream_gene_variant LUSC-KR 3 195619865 195619865 single base substitution C A intron_variant LUSC-KR 3 195619865 195619865 single base substitution C A upstream_gene_variant LUSC-KR 3 195626196 195626196 single base substitution C A intron_variant LUSC-KR 3 195626196 195626196 single base substitution C A upstream_gene_variant LUSC-KR 3 195626614 195626614 single base substitution C T intron_variant LUSC-KR 3 195626614 195626614 single base substitution C T upstream_gene_variant LUSC-KR 3 195630177 195630177 single base substitution T C intron_variant LUSC-KR 3 195630328 195630328 single base substitution C T intron_variant LUSC-KR 3 195638478 195638478 single base substitution G A intron_variant LUSC-KR 3 195638478 195638478 single base substitution G A upstream_gene_variant LUSC-KR 3 195642502 195642502 single base substitution C A upstream_gene_variant LUSC-KR 3 195643673 195643673 single base substitution G C upstream_gene_variant LUSC-US 3 195595138 195595138 single base substitution C A 3_prime_UTR_variant LUSC-US 3 195595138 195595138 single base substitution C A downstream_gene_variant LUSC-US 3 195595138 195595138 single base substitution C A exon_variant LUSC-US 3 195595138 195595138 single base substitution C A synonymous_variant G229G 687G>T LUSC-US 3 195595138 195595138 single base substitution C A synonymous_variant G662G 1986G>T LUSC-US 3 195595138 195595138 single base substitution C A synonymous_variant G694G 2082G>T LUSC-US 3 195595138 195595138 single base substitution C A synonymous_variant G740G 2220G>T LUSC-US 3 195599179 195599179 single base substitution G A exon_variant LUSC-US 3 195599179 195599179 single base substitution G A synonymous_variant R118R 354C>T LUSC-US 3 195599179 195599179 single base substitution G A synonymous_variant R25R 75C>T LUSC-US 3 195599179 195599179 single base substitution G A synonymous_variant R473R 1419C>T LUSC-US 3 195599179 195599179 single base substitution G A synonymous_variant R505R 1515C>T LUSC-US 3 195599179 195599179 single base substitution G A synonymous_variant R536R 1608C>T LUSC-US 3 195599179 195599179 single base substitution G A synonymous_variant R82R 246C>T LUSC-US 3 195599179 195599179 single base substitution G A upstream_gene_variant LUSC-US 3 195605216 195605216 single base substitution G A downstream_gene_variant LUSC-US 3 195605216 195605216 single base substitution G A intron_variant LUSC-US 3 195605216 195605216 single base substitution G A splice_region_variant LUSC-US 3 195605216 195605216 single base substitution G A upstream_gene_variant LUSC-US 3 195611843 195611843 single base substitution C A 3_prime_UTR_variant LUSC-US 3 195611843 195611843 single base substitution C A downstream_gene_variant LUSC-US 3 195611843 195611843 single base substitution C A exon_variant LUSC-US 3 195611843 195611843 single base substitution C A intron_variant LUSC-US 3 195611843 195611843 single base substitution C A missense_variant R131L 392G>T LUSC-US 3 195611843 195611843 single base substitution C A missense_variant R162L 485G>T LUSC-US 3 195611843 195611843 single base substitution C A missense_variant R99L 296G>T MALY-DE 3 195588742 195588742 single base substitution T C downstream_gene_variant MALY-DE 3 195591257 195591257 single base substitution C T downstream_gene_variant MALY-DE 3 195591257 195591257 single base substitution C T intron_variant MALY-DE 3 195592697 195592697 single base substitution G A downstream_gene_variant MALY-DE 3 195592697 195592697 single base substitution G A intron_variant MALY-DE 3 195596191 195596205 deletion of <=200bp GGGGGGCGGGCTCGA - downstream_gene_variant MALY-DE 3 195596191 195596205 deletion of <=200bp GGGGGGCGGGCTCGA - exon_variant MALY-DE 3 195596191 195596205 deletion of <=200bp GGGGGGCGGGCTCGA - intron_variant MALY-DE 3 195596277 195596277 single base substitution C A downstream_gene_variant MALY-DE 3 195596277 195596277 single base substitution C A exon_variant MALY-DE 3 195596277 195596277 single base substitution C A intron_variant MALY-DE 3 195597903 195597903 deletion of <=200bp G - downstream_gene_variant MALY-DE 3 195597903 195597903 deletion of <=200bp G - intron_variant MALY-DE 3 195597903 195597903 deletion of <=200bp G - upstream_gene_variant MALY-DE 3 195602289 195602289 single base substitution G T downstream_gene_variant MALY-DE 3 195602289 195602289 single base substitution G T intron_variant MALY-DE 3 195602289 195602289 single base substitution G T upstream_gene_variant MALY-DE 3 195606737 195606737 single base substitution C T downstream_gene_variant MALY-DE 3 195606737 195606737 single base substitution C T intron_variant MALY-DE 3 195606737 195606737 single base substitution C T upstream_gene_variant MALY-DE 3 195615438 195615438 single base substitution C T exon_variant MALY-DE 3 195615438 195615438 single base substitution C T intron_variant MALY-DE 3 195615438 195615438 single base substitution C T missense_variant G40S 118G>A MALY-DE 3 195615438 195615438 single base substitution C T missense_variant G6S 16G>A MALY-DE 3 195615438 195615438 single base substitution C T missense_variant G71S 211G>A MALY-DE 3 195615438 195615438 single base substitution C T missense_variant G72S 214G>A MALY-DE 3 195615438 195615438 single base substitution C T missense_variant G8S 22G>A MALY-DE 3 195615438 195615438 single base substitution C T upstream_gene_variant MALY-DE 3 195622190 195622190 single base substitution G A 5_prime_UTR_variant MALY-DE 3 195622190 195622190 single base substitution G A intron_variant MALY-DE 3 195622190 195622190 single base substitution G A missense_variant A33V 98C>T MALY-DE 3 195622190 195622190 single base substitution G A upstream_gene_variant MALY-DE 3 195629540 195629540 single base substitution C A intron_variant MALY-DE 3 195631688 195631688 deletion of <=200bp A - intron_variant MALY-DE 3 195634539 195634539 single base substitution T G intron_variant MELA-AU 3 195585434 195585434 single base substitution G A downstream_gene_variant MELA-AU 3 195585681 195585681 single base substitution G A downstream_gene_variant MELA-AU 3 195585865 195585865 single base substitution G A downstream_gene_variant MELA-AU 3 195587403 195587403 single base substitution G C downstream_gene_variant MELA-AU 3 195587632 195587632 single base substitution G A downstream_gene_variant MELA-AU 3 195589158 195589159 multiple base substitution (>=2bp and <=200bp) CC GT downstream_gene_variant MELA-AU 3 195589299 195589299 single base substitution G T downstream_gene_variant MELA-AU 3 195589658 195589658 single base substitution A G downstream_gene_variant MELA-AU 3 195590319 195590320 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 3 195590319 195590320 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 195590319 195590320 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 3 195590705 195590705 single base substitution G A 3_prime_UTR_variant MELA-AU 3 195590705 195590705 single base substitution G A downstream_gene_variant MELA-AU 3 195590705 195590705 single base substitution G A exon_variant MELA-AU 3 195590937 195590937 single base substitution G A 3_prime_UTR_variant MELA-AU 3 195590937 195590937 single base substitution G A downstream_gene_variant MELA-AU 3 195590937 195590937 single base substitution G A exon_variant MELA-AU 3 195591128 195591128 single base substitution T A downstream_gene_variant MELA-AU 3 195591128 195591128 single base substitution T A intron_variant MELA-AU 3 195591358 195591358 single base substitution G A downstream_gene_variant MELA-AU 3 195591358 195591358 single base substitution G A intron_variant MELA-AU 3 195591683 195591683 single base substitution G A downstream_gene_variant MELA-AU 3 195591683 195591683 single base substitution G A intron_variant MELA-AU 3 195591812 195591812 single base substitution G A downstream_gene_variant MELA-AU 3 195591812 195591812 single base substitution G A intron_variant MELA-AU 3 195591878 195591878 single base substitution G A downstream_gene_variant MELA-AU 3 195591878 195591878 single base substitution G A intron_variant MELA-AU 3 195592338 195592338 single base substitution G A downstream_gene_variant MELA-AU 3 195592338 195592338 single base substitution G A intron_variant MELA-AU 3 195592443 195592443 single base substitution G A downstream_gene_variant MELA-AU 3 195592443 195592443 single base substitution G A intron_variant MELA-AU 3 195592569 195592569 single base substitution G A downstream_gene_variant MELA-AU 3 195592569 195592569 single base substitution G A intron_variant MELA-AU 3 195592857 195592858 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 195592857 195592858 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 195593594 195593594 single base substitution G A downstream_gene_variant MELA-AU 3 195593594 195593594 single base substitution G A intron_variant MELA-AU 3 195593893 195593893 single base substitution G A downstream_gene_variant MELA-AU 3 195593893 195593893 single base substitution G A splice_region_variant MELA-AU 3 195593925 195593925 single base substitution G A downstream_gene_variant MELA-AU 3 195593925 195593925 single base substitution G A intron_variant MELA-AU 3 195593943 195593943 single base substitution G A downstream_gene_variant MELA-AU 3 195593943 195593943 single base substitution G A intron_variant MELA-AU 3 195594317 195594318 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 195594317 195594318 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 3 195594317 195594318 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P1014F 3040CC>TT MELA-AU 3 195594317 195594318 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P503F 1507CC>TT MELA-AU 3 195594317 195594318 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P936F 2806CC>TT MELA-AU 3 195594317 195594318 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P968F 2902CC>TT MELA-AU 3 195594722 195594722 single base substitution G A downstream_gene_variant MELA-AU 3 195594722 195594722 single base substitution G A exon_variant MELA-AU 3 195594722 195594722 single base substitution G A missense_variant S368F 1103C>T MELA-AU 3 195594722 195594722 single base substitution G A missense_variant S801F 2402C>T MELA-AU 3 195594722 195594722 single base substitution G A missense_variant S833F 2498C>T MELA-AU 3 195594722 195594722 single base substitution G A missense_variant S879F 2636C>T MELA-AU 3 195594793 195594794 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 195594793 195594794 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 3 195594793 195594794 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant R344Q 1031GG>AA MELA-AU 3 195594793 195594794 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant R777Q 2330GG>AA MELA-AU 3 195594793 195594794 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant R809Q 2426GG>AA MELA-AU 3 195594793 195594794 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant R855Q 2564GG>AA MELA-AU 3 195594847 195594847 single base substitution G A downstream_gene_variant MELA-AU 3 195594847 195594847 single base substitution G A exon_variant MELA-AU 3 195594847 195594847 single base substitution G A synonymous_variant A326A 978C>T MELA-AU 3 195594847 195594847 single base substitution G A synonymous_variant A759A 2277C>T MELA-AU 3 195594847 195594847 single base substitution G A synonymous_variant A791A 2373C>T MELA-AU 3 195594847 195594847 single base substitution G A synonymous_variant A837A 2511C>T MELA-AU 3 195595043 195595043 single base substitution C G downstream_gene_variant MELA-AU 3 195595043 195595043 single base substitution C G exon_variant MELA-AU 3 195595043 195595043 single base substitution C G missense_variant G261A 782G>C MELA-AU 3 195595043 195595043 single base substitution C G missense_variant G694A 2081G>C MELA-AU 3 195595043 195595043 single base substitution C G missense_variant G726A 2177G>C MELA-AU 3 195595043 195595043 single base substitution C G missense_variant G772A 2315G>C MELA-AU 3 195595083 195595083 single base substitution G A downstream_gene_variant MELA-AU 3 195595083 195595083 single base substitution G A exon_variant MELA-AU 3 195595083 195595083 single base substitution G A missense_variant P248S 742C>T MELA-AU 3 195595083 195595083 single base substitution G A missense_variant P681S 2041C>T MELA-AU 3 195595083 195595083 single base substitution G A missense_variant P713S 2137C>T MELA-AU 3 195595083 195595083 single base substitution G A missense_variant P759S 2275C>T MELA-AU 3 195595405 195595405 single base substitution G A 3_prime_UTR_variant MELA-AU 3 195595405 195595405 single base substitution G A downstream_gene_variant MELA-AU 3 195595405 195595405 single base substitution G A exon_variant MELA-AU 3 195595405 195595405 single base substitution G A splice_region_variant MELA-AU 3 195595405 195595405 single base substitution G A synonymous_variant F140F 420C>T MELA-AU 3 195595405 195595405 single base substitution G A synonymous_variant F182F 546C>T MELA-AU 3 195595405 195595405 single base substitution G A synonymous_variant F573F 1719C>T MELA-AU 3 195595405 195595405 single base substitution G A synonymous_variant F605F 1815C>T MELA-AU 3 195595405 195595405 single base substitution G A synonymous_variant F651F 1953C>T MELA-AU 3 195596469 195596469 single base substitution G A downstream_gene_variant MELA-AU 3 195596469 195596469 single base substitution G A exon_variant MELA-AU 3 195596469 195596469 single base substitution G A intron_variant MELA-AU 3 195596474 195596474 single base substitution G A downstream_gene_variant MELA-AU 3 195596474 195596474 single base substitution G A exon_variant MELA-AU 3 195596474 195596474 single base substitution G A intron_variant MELA-AU 3 195596514 195596514 single base substitution G A downstream_gene_variant MELA-AU 3 195596514 195596514 single base substitution G A exon_variant MELA-AU 3 195596514 195596514 single base substitution G A intron_variant MELA-AU 3 195596762 195596762 single base substitution G A downstream_gene_variant MELA-AU 3 195596762 195596762 single base substitution G A exon_variant MELA-AU 3 195596762 195596762 single base substitution G A intron_variant MELA-AU 3 195596762 195596762 single base substitution G A upstream_gene_variant MELA-AU 3 195596792 195596792 single base substitution C A downstream_gene_variant MELA-AU 3 195596792 195596792 single base substitution C A exon_variant MELA-AU 3 195596792 195596792 single base substitution C A intron_variant MELA-AU 3 195596792 195596792 single base substitution C A upstream_gene_variant MELA-AU 3 195596915 195596916 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 195596915 195596916 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 3 195596915 195596916 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 195596915 195596916 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 195597087 195597087 single base substitution G A 3_prime_UTR_variant MELA-AU 3 195597087 195597087 single base substitution G A downstream_gene_variant MELA-AU 3 195597087 195597087 single base substitution G A exon_variant MELA-AU 3 195597087 195597087 single base substitution G A intron_variant MELA-AU 3 195597087 195597087 single base substitution G A upstream_gene_variant MELA-AU 3 195597093 195597093 single base substitution T A 3_prime_UTR_variant MELA-AU 3 195597093 195597093 single base substitution T A downstream_gene_variant MELA-AU 3 195597093 195597093 single base substitution T A exon_variant MELA-AU 3 195597093 195597093 single base substitution T A intron_variant MELA-AU 3 195597093 195597093 single base substitution T A upstream_gene_variant MELA-AU 3 195597111 195597111 single base substitution G A 3_prime_UTR_variant MELA-AU 3 195597111 195597111 single base substitution G A downstream_gene_variant MELA-AU 3 195597111 195597111 single base substitution G A exon_variant MELA-AU 3 195597111 195597111 single base substitution G A intron_variant MELA-AU 3 195597111 195597111 single base substitution G A upstream_gene_variant MELA-AU 3 195597290 195597290 single base substitution G A downstream_gene_variant MELA-AU 3 195597290 195597290 single base substitution G A intron_variant MELA-AU 3 195597290 195597290 single base substitution G A upstream_gene_variant MELA-AU 3 195597390 195597390 single base substitution G A downstream_gene_variant MELA-AU 3 195597390 195597390 single base substitution G A intron_variant MELA-AU 3 195597390 195597390 single base substitution G A upstream_gene_variant MELA-AU 3 195597421 195597421 single base substitution G A downstream_gene_variant MELA-AU 3 195597421 195597421 single base substitution G A intron_variant MELA-AU 3 195597421 195597421 single base substitution G A upstream_gene_variant MELA-AU 3 195597425 195597425 single base substitution G A downstream_gene_variant MELA-AU 3 195597425 195597425 single base substitution G A intron_variant MELA-AU 3 195597425 195597425 single base substitution G A upstream_gene_variant MELA-AU 3 195598153 195598153 single base substitution G A downstream_gene_variant MELA-AU 3 195598153 195598153 single base substitution G A intron_variant MELA-AU 3 195598153 195598153 single base substitution G A upstream_gene_variant MELA-AU 3 195598371 195598371 single base substitution G A downstream_gene_variant MELA-AU 3 195598371 195598371 single base substitution G A intron_variant MELA-AU 3 195598371 195598371 single base substitution G A upstream_gene_variant MELA-AU 3 195598800 195598800 single base substitution A C downstream_gene_variant MELA-AU 3 195598800 195598800 single base substitution A C intron_variant MELA-AU 3 195598800 195598800 single base substitution A C upstream_gene_variant MELA-AU 3 195599092 195599092 single base substitution G A downstream_gene_variant MELA-AU 3 195599092 195599092 single base substitution G A intron_variant MELA-AU 3 195599092 195599092 single base substitution G A upstream_gene_variant MELA-AU 3 195599348 195599348 single base substitution G A exon_variant MELA-AU 3 195599348 195599348 single base substitution G A intron_variant MELA-AU 3 195599348 195599348 single base substitution G A splice_region_variant MELA-AU 3 195599348 195599348 single base substitution G A upstream_gene_variant MELA-AU 3 195599828 195599828 single base substitution G A intron_variant MELA-AU 3 195599828 195599828 single base substitution G A upstream_gene_variant MELA-AU 3 195599982 195599982 single base substitution G A intron_variant MELA-AU 3 195599982 195599982 single base substitution G A upstream_gene_variant MELA-AU 3 195600143 195600144 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 195600143 195600144 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 195600373 195600373 single base substitution G A intron_variant MELA-AU 3 195600373 195600373 single base substitution G A upstream_gene_variant MELA-AU 3 195600439 195600439 single base substitution G A downstream_gene_variant MELA-AU 3 195600439 195600439 single base substitution G A intron_variant MELA-AU 3 195600439 195600439 single base substitution G A upstream_gene_variant MELA-AU 3 195600559 195600559 single base substitution G A downstream_gene_variant MELA-AU 3 195600559 195600559 single base substitution G A intron_variant MELA-AU 3 195600559 195600559 single base substitution G A upstream_gene_variant MELA-AU 3 195600715 195600715 single base substitution G A downstream_gene_variant MELA-AU 3 195600715 195600715 single base substitution G A intron_variant MELA-AU 3 195600715 195600715 single base substitution G A upstream_gene_variant MELA-AU 3 195600868 195600868 single base substitution G A downstream_gene_variant MELA-AU 3 195600868 195600868 single base substitution G A intron_variant MELA-AU 3 195600868 195600868 single base substitution G A upstream_gene_variant MELA-AU 3 195600953 195600954 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 195600953 195600954 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 195600953 195600954 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 195601126 195601126 single base substitution G A downstream_gene_variant MELA-AU 3 195601126 195601126 single base substitution G A intron_variant MELA-AU 3 195601126 195601126 single base substitution G A upstream_gene_variant MELA-AU 3 195601213 195601213 single base substitution G A downstream_gene_variant MELA-AU 3 195601213 195601213 single base substitution G A intron_variant MELA-AU 3 195601213 195601213 single base substitution G A upstream_gene_variant MELA-AU 3 195601360 195601360 single base substitution C T downstream_gene_variant MELA-AU 3 195601360 195601360 single base substitution C T intron_variant MELA-AU 3 195601360 195601360 single base substitution C T upstream_gene_variant MELA-AU 3 195601400 195601400 single base substitution G A downstream_gene_variant MELA-AU 3 195601400 195601400 single base substitution G A intron_variant MELA-AU 3 195601400 195601400 single base substitution G A upstream_gene_variant MELA-AU 3 195602279 195602279 single base substitution C G downstream_gene_variant MELA-AU 3 195602279 195602279 single base substitution C G intron_variant MELA-AU 3 195602279 195602279 single base substitution C G upstream_gene_variant MELA-AU 3 195602334 195602334 single base substitution G T downstream_gene_variant MELA-AU 3 195602334 195602334 single base substitution G T intron_variant MELA-AU 3 195602334 195602334 single base substitution G T upstream_gene_variant MELA-AU 3 195602337 195602337 single base substitution G A downstream_gene_variant MELA-AU 3 195602337 195602337 single base substitution G A intron_variant MELA-AU 3 195602337 195602337 single base substitution G A upstream_gene_variant MELA-AU 3 195602749 195602749 single base substitution T C downstream_gene_variant MELA-AU 3 195602749 195602749 single base substitution T C intron_variant MELA-AU 3 195602749 195602749 single base substitution T C upstream_gene_variant MELA-AU 3 195603553 195603553 single base substitution G A downstream_gene_variant MELA-AU 3 195603553 195603553 single base substitution G A intron_variant MELA-AU 3 195603553 195603553 single base substitution G A missense_variant P19S 55C>T MELA-AU 3 195603553 195603553 single base substitution G A synonymous_variant L4L 12C>T MELA-AU 3 195603553 195603553 single base substitution G A upstream_gene_variant MELA-AU 3 195604192 195604192 single base substitution G A downstream_gene_variant MELA-AU 3 195604192 195604192 single base substitution G A intron_variant MELA-AU 3 195604192 195604192 single base substitution G A upstream_gene_variant MELA-AU 3 195604589 195604589 single base substitution G A downstream_gene_variant MELA-AU 3 195604589 195604589 single base substitution G A intron_variant MELA-AU 3 195604589 195604589 single base substitution G A upstream_gene_variant MELA-AU 3 195604690 195604690 single base substitution G A downstream_gene_variant MELA-AU 3 195604690 195604690 single base substitution G A intron_variant MELA-AU 3 195604690 195604690 single base substitution G A upstream_gene_variant MELA-AU 3 195605000 195605001 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 195605000 195605001 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 195605000 195605001 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 195605039 195605039 single base substitution G A downstream_gene_variant MELA-AU 3 195605039 195605039 single base substitution G A intron_variant MELA-AU 3 195605039 195605039 single base substitution G A upstream_gene_variant MELA-AU 3 195605704 195605704 single base substitution C T downstream_gene_variant MELA-AU 3 195605704 195605704 single base substitution C T intron_variant MELA-AU 3 195605704 195605704 single base substitution C T upstream_gene_variant MELA-AU 3 195605896 195605896 single base substitution G A downstream_gene_variant MELA-AU 3 195605896 195605896 single base substitution G A intron_variant MELA-AU 3 195605896 195605896 single base substitution G A upstream_gene_variant MELA-AU 3 195606068 195606068 single base substitution G A exon_variant MELA-AU 3 195606068 195606068 single base substitution G A intron_variant MELA-AU 3 195606068 195606068 single base substitution G A upstream_gene_variant MELA-AU 3 195606274 195606274 single base substitution G A exon_variant MELA-AU 3 195606274 195606274 single base substitution G A intron_variant MELA-AU 3 195606274 195606274 single base substitution G A upstream_gene_variant MELA-AU 3 195606276 195606276 single base substitution G A exon_variant MELA-AU 3 195606276 195606276 single base substitution G A intron_variant MELA-AU 3 195606276 195606276 single base substitution G A upstream_gene_variant MELA-AU 3 195606585 195606585 single base substitution G A intron_variant MELA-AU 3 195606585 195606585 single base substitution G A upstream_gene_variant MELA-AU 3 195606664 195606664 single base substitution G A intron_variant MELA-AU 3 195606664 195606664 single base substitution G A upstream_gene_variant MELA-AU 3 195608462 195608463 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 195608462 195608463 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 195608462 195608463 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 195608687 195608687 single base substitution A G downstream_gene_variant MELA-AU 3 195608687 195608687 single base substitution A G intron_variant MELA-AU 3 195608687 195608687 single base substitution A G upstream_gene_variant MELA-AU 3 195608889 195608889 single base substitution G A downstream_gene_variant MELA-AU 3 195608889 195608889 single base substitution G A intron_variant MELA-AU 3 195608889 195608889 single base substitution G A upstream_gene_variant MELA-AU 3 195609059 195609059 single base substitution G A 3_prime_UTR_variant MELA-AU 3 195609059 195609059 single base substitution G A downstream_gene_variant MELA-AU 3 195609059 195609059 single base substitution G A exon_variant MELA-AU 3 195609059 195609059 single base substitution G A intron_variant MELA-AU 3 195609059 195609059 single base substitution G A synonymous_variant H174H 522C>T MELA-AU 3 195609059 195609059 single base substitution G A synonymous_variant H250H 750C>T MELA-AU 3 195609059 195609059 single base substitution G A synonymous_variant H282H 846C>T MELA-AU 3 195609059 195609059 single base substitution G A synonymous_variant H313H 939C>T MELA-AU 3 195609059 195609059 single base substitution G A upstream_gene_variant MELA-AU 3 195609166 195609166 single base substitution C T 3_prime_UTR_variant MELA-AU 3 195609166 195609166 single base substitution C T downstream_gene_variant MELA-AU 3 195609166 195609166 single base substitution C T exon_variant MELA-AU 3 195609166 195609166 single base substitution C T intron_variant MELA-AU 3 195609166 195609166 single base substitution C T missense_variant D139N 415G>A MELA-AU 3 195609166 195609166 single base substitution C T missense_variant D215N 643G>A MELA-AU 3 195609166 195609166 single base substitution C T missense_variant D247N 739G>A MELA-AU 3 195609166 195609166 single base substitution C T missense_variant D278N 832G>A MELA-AU 3 195609166 195609166 single base substitution C T upstream_gene_variant MELA-AU 3 195609593 195609593 single base substitution G A downstream_gene_variant MELA-AU 3 195609593 195609593 single base substitution G A intron_variant MELA-AU 3 195609593 195609593 single base substitution G A upstream_gene_variant MELA-AU 3 195610808 195610808 single base substitution G A downstream_gene_variant MELA-AU 3 195610808 195610808 single base substitution G A exon_variant MELA-AU 3 195610808 195610808 single base substitution G A intron_variant MELA-AU 3 195610808 195610808 single base substitution G A upstream_gene_variant MELA-AU 3 195610994 195610994 single base substitution G A downstream_gene_variant MELA-AU 3 195610994 195610994 single base substitution G A exon_variant MELA-AU 3 195610994 195610994 single base substitution G A intron_variant MELA-AU 3 195610994 195610994 single base substitution G A upstream_gene_variant MELA-AU 3 195611845 195611845 single base substitution G A 3_prime_UTR_variant MELA-AU 3 195611845 195611845 single base substitution G A downstream_gene_variant MELA-AU 3 195611845 195611845 single base substitution G A exon_variant MELA-AU 3 195611845 195611845 single base substitution G A intron_variant MELA-AU 3 195611845 195611845 single base substitution G A synonymous_variant F130F 390C>T MELA-AU 3 195611845 195611845 single base substitution G A synonymous_variant F161F 483C>T MELA-AU 3 195611845 195611845 single base substitution G A synonymous_variant F98F 294C>T MELA-AU 3 195612056 195612056 single base substitution G A downstream_gene_variant MELA-AU 3 195612056 195612056 single base substitution G A exon_variant MELA-AU 3 195612056 195612056 single base substitution G A intron_variant MELA-AU 3 195612056 195612056 single base substitution G A upstream_gene_variant MELA-AU 3 195612129 195612129 single base substitution G A downstream_gene_variant MELA-AU 3 195612129 195612129 single base substitution G A exon_variant MELA-AU 3 195612129 195612129 single base substitution G A intron_variant MELA-AU 3 195612129 195612129 single base substitution G A upstream_gene_variant MELA-AU 3 195612899 195612899 single base substitution C T downstream_gene_variant MELA-AU 3 195612899 195612899 single base substitution C T exon_variant MELA-AU 3 195612899 195612899 single base substitution C T intron_variant MELA-AU 3 195612899 195612899 single base substitution C T upstream_gene_variant MELA-AU 3 195613177 195613177 single base substitution G A downstream_gene_variant MELA-AU 3 195613177 195613177 single base substitution G A intron_variant MELA-AU 3 195613177 195613177 single base substitution G A upstream_gene_variant MELA-AU 3 195613375 195613375 single base substitution G A downstream_gene_variant MELA-AU 3 195613375 195613375 single base substitution G A intron_variant MELA-AU 3 195613375 195613375 single base substitution G A upstream_gene_variant MELA-AU 3 195613769 195613769 single base substitution G A downstream_gene_variant MELA-AU 3 195613769 195613769 single base substitution G A intron_variant MELA-AU 3 195613769 195613769 single base substitution G A upstream_gene_variant MELA-AU 3 195613854 195613854 single base substitution C A exon_variant MELA-AU 3 195613854 195613854 single base substitution C A intron_variant MELA-AU 3 195613854 195613854 single base substitution C A missense_variant M108I 324G>T MELA-AU 3 195613854 195613854 single base substitution C A missense_variant M139I 417G>T MELA-AU 3 195613854 195613854 single base substitution C A missense_variant M140I 420G>T MELA-AU 3 195613854 195613854 single base substitution C A missense_variant M74I 222G>T MELA-AU 3 195613854 195613854 single base substitution C A missense_variant M76I 228G>T MELA-AU 3 195613854 195613854 single base substitution C A upstream_gene_variant MELA-AU 3 195614172 195614172 single base substitution G A intron_variant MELA-AU 3 195614172 195614172 single base substitution G A upstream_gene_variant MELA-AU 3 195614211 195614211 single base substitution G A intron_variant MELA-AU 3 195614211 195614211 single base substitution G A upstream_gene_variant MELA-AU 3 195614554 195614554 single base substitution G A intron_variant MELA-AU 3 195614554 195614554 single base substitution G A upstream_gene_variant MELA-AU 3 195614560 195614560 single base substitution T C intron_variant MELA-AU 3 195614560 195614560 single base substitution T C upstream_gene_variant MELA-AU 3 195615059 195615059 single base substitution G A intron_variant MELA-AU 3 195615059 195615059 single base substitution G A upstream_gene_variant MELA-AU 3 195615303 195615303 single base substitution G A exon_variant MELA-AU 3 195615303 195615303 single base substitution G A intron_variant MELA-AU 3 195615303 195615303 single base substitution G A missense_variant R116W 346C>T MELA-AU 3 195615303 195615303 single base substitution G A missense_variant R117W 349C>T MELA-AU 3 195615303 195615303 single base substitution G A missense_variant R51W 151C>T MELA-AU 3 195615303 195615303 single base substitution G A missense_variant R53W 157C>T MELA-AU 3 195615303 195615303 single base substitution G A missense_variant R85W 253C>T MELA-AU 3 195615303 195615303 single base substitution G A upstream_gene_variant MELA-AU 3 195615415 195615416 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 3 195615415 195615416 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 195615415 195615416 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant S13F 38CC>TT MELA-AU 3 195615415 195615416 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant S15F 44CC>TT MELA-AU 3 195615415 195615416 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant S47F 140CC>TT MELA-AU 3 195615415 195615416 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant S78F 233CC>TT MELA-AU 3 195615415 195615416 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant S79F 236CC>TT MELA-AU 3 195615415 195615416 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 195615490 195615490 single base substitution G A intron_variant MELA-AU 3 195615490 195615490 single base substitution G A upstream_gene_variant MELA-AU 3 195615583 195615583 single base substitution G A intron_variant MELA-AU 3 195615583 195615583 single base substitution G A upstream_gene_variant MELA-AU 3 195615593 195615593 single base substitution A C intron_variant MELA-AU 3 195615593 195615593 single base substitution A C upstream_gene_variant MELA-AU 3 195616559 195616559 single base substitution G A intron_variant MELA-AU 3 195616559 195616559 single base substitution G A upstream_gene_variant MELA-AU 3 195616824 195616824 single base substitution A C intron_variant MELA-AU 3 195616824 195616824 single base substitution A C upstream_gene_variant MELA-AU 3 195617050 195617050 deletion of <=200bp A - intron_variant MELA-AU 3 195617050 195617050 deletion of <=200bp A - upstream_gene_variant MELA-AU 3 195617598 195617598 single base substitution C T intron_variant MELA-AU 3 195617598 195617598 single base substitution C T upstream_gene_variant MELA-AU 3 195617657 195617657 single base substitution G A intron_variant MELA-AU 3 195617657 195617657 single base substitution G A upstream_gene_variant MELA-AU 3 195618275 195618275 single base substitution C G intron_variant MELA-AU 3 195618275 195618275 single base substitution C G upstream_gene_variant MELA-AU 3 195618866 195618866 single base substitution G A 5_prime_UTR_variant MELA-AU 3 195618866 195618866 single base substitution G A intron_variant MELA-AU 3 195618866 195618866 single base substitution G A upstream_gene_variant MELA-AU 3 195619395 195619395 single base substitution G A 5_prime_UTR_variant MELA-AU 3 195619395 195619395 single base substitution G A exon_variant MELA-AU 3 195619395 195619395 single base substitution G A intron_variant MELA-AU 3 195619395 195619395 single base substitution G A upstream_gene_variant MELA-AU 3 195619473 195619473 single base substitution G A 5_prime_UTR_variant MELA-AU 3 195619473 195619473 single base substitution G A exon_variant MELA-AU 3 195619473 195619473 single base substitution G A intron_variant MELA-AU 3 195619473 195619473 single base substitution G A upstream_gene_variant MELA-AU 3 195621033 195621033 single base substitution G A intron_variant MELA-AU 3 195621033 195621033 single base substitution G A upstream_gene_variant MELA-AU 3 195622150 195622150 single base substitution G A 5_prime_UTR_variant MELA-AU 3 195622150 195622150 single base substitution G A intron_variant MELA-AU 3 195622150 195622150 single base substitution G A synonymous_variant Y46Y 138C>T MELA-AU 3 195622150 195622150 single base substitution G A upstream_gene_variant MELA-AU 3 195622526 195622526 single base substitution G A intron_variant MELA-AU 3 195622526 195622526 single base substitution G A upstream_gene_variant MELA-AU 3 195623821 195623821 single base substitution G A intron_variant MELA-AU 3 195623821 195623821 single base substitution G A upstream_gene_variant MELA-AU 3 195625022 195625022 single base substitution G A intron_variant MELA-AU 3 195625022 195625022 single base substitution G A upstream_gene_variant MELA-AU 3 195625685 195625685 single base substitution G A intron_variant MELA-AU 3 195625685 195625685 single base substitution G A upstream_gene_variant MELA-AU 3 195625689 195625689 single base substitution G A intron_variant MELA-AU 3 195625689 195625689 single base substitution G A upstream_gene_variant MELA-AU 3 195625724 195625724 single base substitution G A intron_variant MELA-AU 3 195625724 195625724 single base substitution G A upstream_gene_variant MELA-AU 3 195626142 195626143 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 195626142 195626143 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 195627365 195627365 single base substitution T A intron_variant MELA-AU 3 195627365 195627365 single base substitution T A upstream_gene_variant MELA-AU 3 195627893 195627893 single base substitution T G intron_variant MELA-AU 3 195627893 195627893 single base substitution T G upstream_gene_variant MELA-AU 3 195628399 195628399 single base substitution G T intron_variant MELA-AU 3 195628399 195628399 single base substitution G T upstream_gene_variant MELA-AU 3 195628737 195628737 single base substitution G A intron_variant MELA-AU 3 195630411 195630411 single base substitution A G intron_variant MELA-AU 3 195630665 195630665 single base substitution C T intron_variant MELA-AU 3 195631413 195631413 single base substitution G A intron_variant MELA-AU 3 195632206 195632206 single base substitution G A intron_variant MELA-AU 3 195633724 195633724 single base substitution G A intron_variant MELA-AU 3 195634975 195634975 single base substitution G A intron_variant MELA-AU 3 195635100 195635100 single base substitution G A intron_variant MELA-AU 3 195635731 195635731 single base substitution C T 5_prime_UTR_variant MELA-AU 3 195635731 195635731 single base substitution C T intron_variant MELA-AU 3 195635961 195635961 single base substitution C A intron_variant MELA-AU 3 195635961 195635961 single base substitution C A upstream_gene_variant MELA-AU 3 195636767 195636767 single base substitution C T intron_variant MELA-AU 3 195636767 195636767 single base substitution C T upstream_gene_variant MELA-AU 3 195636795 195636795 single base substitution G A intron_variant MELA-AU 3 195636795 195636795 single base substitution G A upstream_gene_variant MELA-AU 3 195637076 195637076 single base substitution G T intron_variant MELA-AU 3 195637076 195637076 single base substitution G T upstream_gene_variant MELA-AU 3 195637100 195637100 single base substitution G A intron_variant MELA-AU 3 195637100 195637100 single base substitution G A upstream_gene_variant MELA-AU 3 195637220 195637220 single base substitution G A intron_variant MELA-AU 3 195637220 195637220 single base substitution G A upstream_gene_variant MELA-AU 3 195637249 195637249 single base substitution G A intron_variant MELA-AU 3 195637249 195637249 single base substitution G A upstream_gene_variant MELA-AU 3 195637450 195637450 single base substitution G A intron_variant MELA-AU 3 195637450 195637450 single base substitution G A upstream_gene_variant MELA-AU 3 195637585 195637585 single base substitution C T intron_variant MELA-AU 3 195637585 195637585 single base substitution C T upstream_gene_variant MELA-AU 3 195637870 195637870 single base substitution C T intron_variant MELA-AU 3 195637870 195637870 single base substitution C T upstream_gene_variant MELA-AU 3 195638016 195638016 single base substitution C T intron_variant MELA-AU 3 195638016 195638016 single base substitution C T upstream_gene_variant MELA-AU 3 195638171 195638171 single base substitution C T intron_variant MELA-AU 3 195638171 195638171 single base substitution C T upstream_gene_variant MELA-AU 3 195638414 195638414 single base substitution C T intron_variant MELA-AU 3 195638414 195638414 single base substitution C T upstream_gene_variant MELA-AU 3 195638521 195638521 single base substitution C T intron_variant MELA-AU 3 195638521 195638521 single base substitution C T upstream_gene_variant MELA-AU 3 195638673 195638673 single base substitution G A exon_variant MELA-AU 3 195638673 195638673 single base substitution G A upstream_gene_variant MELA-AU 3 195638714 195638714 single base substitution G A exon_variant MELA-AU 3 195638714 195638714 single base substitution G A upstream_gene_variant MELA-AU 3 195639099 195639100 multiple base substitution (>=2bp and <=200bp) GG AC upstream_gene_variant MELA-AU 3 195639177 195639177 single base substitution T A upstream_gene_variant MELA-AU 3 195639389 195639389 single base substitution G A upstream_gene_variant MELA-AU 3 195639629 195639629 single base substitution G A upstream_gene_variant MELA-AU 3 195639882 195639882 single base substitution G A upstream_gene_variant MELA-AU 3 195640733 195640734 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 195641038 195641038 insertion of <=200bp - A upstream_gene_variant MELA-AU 3 195641112 195641112 single base substitution G A upstream_gene_variant MELA-AU 3 195641155 195641155 single base substitution A T upstream_gene_variant MELA-AU 3 195641239 195641239 single base substitution G A upstream_gene_variant MELA-AU 3 195641299 195641299 single base substitution C T upstream_gene_variant MELA-AU 3 195641357 195641357 single base substitution G A upstream_gene_variant MELA-AU 3 195641654 195641654 single base substitution G A upstream_gene_variant MELA-AU 3 195642072 195642072 single base substitution C T upstream_gene_variant MELA-AU 3 195642097 195642097 single base substitution G A upstream_gene_variant MELA-AU 3 195643014 195643014 single base substitution G A upstream_gene_variant MELA-AU 3 195643039 195643039 single base substitution A C upstream_gene_variant MELA-AU 3 195643060 195643060 single base substitution C T upstream_gene_variant MELA-AU 3 195643464 195643464 single base substitution C T upstream_gene_variant MELA-AU 3 195643489 195643490 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 195643554 195643554 single base substitution C T upstream_gene_variant MELA-AU 3 195643607 195643607 single base substitution G A upstream_gene_variant MELA-AU 3 195643624 195643624 single base substitution C T upstream_gene_variant MELA-AU 3 195643632 195643632 single base substitution G A upstream_gene_variant MELA-AU 3 195643803 195643804 multiple base substitution (>=2bp and <=200bp) GC AA upstream_gene_variant ORCA-IN 3 195597865 195597865 single base substitution C T downstream_gene_variant ORCA-IN 3 195597865 195597865 single base substitution C T intron_variant ORCA-IN 3 195597865 195597865 single base substitution C T upstream_gene_variant ORCA-IN 3 195599148 195599148 single base substitution C T downstream_gene_variant ORCA-IN 3 195599148 195599148 single base substitution C T missense_variant E129K 385G>A ORCA-IN 3 195599148 195599148 single base substitution C T missense_variant E36K 106G>A ORCA-IN 3 195599148 195599148 single base substitution C T missense_variant E484K 1450G>A ORCA-IN 3 195599148 195599148 single base substitution C T missense_variant E516K 1546G>A ORCA-IN 3 195599148 195599148 single base substitution C T missense_variant E547K 1639G>A ORCA-IN 3 195599148 195599148 single base substitution C T missense_variant E93K 277G>A ORCA-IN 3 195599148 195599148 single base substitution C T splice_region_variant ORCA-IN 3 195599148 195599148 single base substitution C T upstream_gene_variant ORCA-IN 3 195608944 195608944 single base substitution G T 3_prime_UTR_variant ORCA-IN 3 195608944 195608944 single base substitution G T downstream_gene_variant ORCA-IN 3 195608944 195608944 single base substitution G T exon_variant ORCA-IN 3 195608944 195608944 single base substitution G T intron_variant ORCA-IN 3 195608944 195608944 single base substitution G T missense_variant H213N 637C>A ORCA-IN 3 195608944 195608944 single base substitution G T missense_variant H289N 865C>A ORCA-IN 3 195608944 195608944 single base substitution G T missense_variant H321N 961C>A ORCA-IN 3 195608944 195608944 single base substitution G T missense_variant H352N 1054C>A ORCA-IN 3 195608944 195608944 single base substitution G T upstream_gene_variant ORCA-IN 3 195611501 195611501 single base substitution C T downstream_gene_variant ORCA-IN 3 195611501 195611501 single base substitution C T exon_variant ORCA-IN 3 195611501 195611501 single base substitution C T intron_variant ORCA-IN 3 195614355 195614355 single base substitution G A intron_variant ORCA-IN 3 195614355 195614355 single base substitution G A upstream_gene_variant ORCA-IN 3 195630903 195630903 single base substitution C T intron_variant OV-AU 3 195587819 195587819 single base substitution T A downstream_gene_variant OV-AU 3 195588858 195588858 single base substitution C T downstream_gene_variant OV-AU 3 195597924 195597924 single base substitution C A downstream_gene_variant OV-AU 3 195597924 195597924 single base substitution C A intron_variant OV-AU 3 195597924 195597924 single base substitution C A upstream_gene_variant OV-AU 3 195605334 195605334 single base substitution G C downstream_gene_variant OV-AU 3 195605334 195605334 single base substitution G C exon_variant OV-AU 3 195605334 195605334 single base substitution G C intron_variant OV-AU 3 195605334 195605334 single base substitution G C missense_variant R382G 1144C>G OV-AU 3 195605334 195605334 single base substitution G C missense_variant R414G 1240C>G OV-AU 3 195605334 195605334 single base substitution G C missense_variant R445G 1333C>G OV-AU 3 195605334 195605334 single base substitution G C upstream_gene_variant OV-AU 3 195605423 195605423 single base substitution C T downstream_gene_variant OV-AU 3 195605423 195605423 single base substitution C T exon_variant OV-AU 3 195605423 195605423 single base substitution C T intron_variant OV-AU 3 195605423 195605423 single base substitution C T missense_variant R276Q 827G>A OV-AU 3 195605423 195605423 single base substitution C T missense_variant R352Q 1055G>A OV-AU 3 195605423 195605423 single base substitution C T missense_variant R384Q 1151G>A OV-AU 3 195605423 195605423 single base substitution C T missense_variant R415Q 1244G>A OV-AU 3 195605423 195605423 single base substitution C T upstream_gene_variant OV-AU 3 195606751 195606751 single base substitution G C downstream_gene_variant OV-AU 3 195606751 195606751 single base substitution G C intron_variant OV-AU 3 195606751 195606751 single base substitution G C upstream_gene_variant OV-AU 3 195609567 195609567 single base substitution A T downstream_gene_variant OV-AU 3 195609567 195609567 single base substitution A T intron_variant OV-AU 3 195609567 195609567 single base substitution A T upstream_gene_variant OV-AU 3 195611846 195611846 single base substitution A T 3_prime_UTR_variant OV-AU 3 195611846 195611846 single base substitution A T downstream_gene_variant OV-AU 3 195611846 195611846 single base substitution A T exon_variant OV-AU 3 195611846 195611846 single base substitution A T intron_variant OV-AU 3 195611846 195611846 single base substitution A T missense_variant F130Y 389T>A OV-AU 3 195611846 195611846 single base substitution A T missense_variant F161Y 482T>A OV-AU 3 195611846 195611846 single base substitution A T missense_variant F98Y 293T>A OV-AU 3 195611846 195611846 single base substitution A T synonymous_variant ?98 OV-AU 3 195611880 195611880 single base substitution C A 3_prime_UTR_variant OV-AU 3 195611880 195611880 single base substitution C A downstream_gene_variant OV-AU 3 195611880 195611880 single base substitution C A exon_variant OV-AU 3 195611880 195611880 single base substitution C A intron_variant OV-AU 3 195611880 195611880 single base substitution C A missense_variant A119S 355G>T OV-AU 3 195611880 195611880 single base substitution C A missense_variant A150S 448G>T OV-AU 3 195611880 195611880 single base substitution C A missense_variant A87S 259G>T OV-AU 3 195613403 195613403 single base substitution G A downstream_gene_variant OV-AU 3 195613403 195613403 single base substitution G A intron_variant OV-AU 3 195613403 195613403 single base substitution G A upstream_gene_variant OV-AU 3 195614516 195614516 single base substitution A G intron_variant OV-AU 3 195614516 195614516 single base substitution A G upstream_gene_variant OV-AU 3 195614802 195614802 single base substitution T C intron_variant OV-AU 3 195614802 195614802 single base substitution T C upstream_gene_variant OV-AU 3 195614803 195614803 single base substitution G A intron_variant OV-AU 3 195614803 195614803 single base substitution G A upstream_gene_variant OV-AU 3 195617100 195617100 single base substitution G A intron_variant OV-AU 3 195617100 195617100 single base substitution G A upstream_gene_variant OV-AU 3 195618271 195618271 single base substitution C T intron_variant OV-AU 3 195618271 195618271 single base substitution C T upstream_gene_variant OV-AU 3 195619040 195619040 single base substitution C A intron_variant OV-AU 3 195619040 195619040 single base substitution C A upstream_gene_variant OV-AU 3 195621906 195621906 single base substitution C T intron_variant OV-AU 3 195621906 195621906 single base substitution C T upstream_gene_variant OV-AU 3 195622142 195622142 single base substitution A G 5_prime_UTR_variant OV-AU 3 195622142 195622142 single base substitution A G intron_variant OV-AU 3 195622142 195622142 single base substitution A G missense_variant L49P 146T>C OV-AU 3 195622142 195622142 single base substitution A G upstream_gene_variant OV-AU 3 195625217 195625217 single base substitution A G intron_variant OV-AU 3 195625217 195625217 single base substitution A G upstream_gene_variant OV-AU 3 195631129 195631129 single base substitution T C intron_variant OV-AU 3 195638682 195638682 single base substitution C T exon_variant OV-AU 3 195638682 195638682 single base substitution C T upstream_gene_variant PACA-AU 3 195585458 195585458 insertion of <=200bp - A downstream_gene_variant PACA-AU 3 195587403 195587403 single base substitution G C downstream_gene_variant PACA-AU 3 195595573 195595573 single base substitution G A 3_prime_UTR_variant PACA-AU 3 195595573 195595573 single base substitution G A downstream_gene_variant PACA-AU 3 195595573 195595573 single base substitution G A exon_variant PACA-AU 3 195595573 195595573 single base substitution G A synonymous_variant T126T 378C>T PACA-AU 3 195595573 195595573 single base substitution G A synonymous_variant T162T 486C>T PACA-AU 3 195595573 195595573 single base substitution G A synonymous_variant T517T 1551C>T PACA-AU 3 195595573 195595573 single base substitution G A synonymous_variant T549T 1647C>T PACA-AU 3 195595573 195595573 single base substitution G A synonymous_variant T595T 1785C>T PACA-AU 3 195595573 195595573 single base substitution G A synonymous_variant T84T 252C>T PACA-AU 3 195597261 195597261 single base substitution G T downstream_gene_variant PACA-AU 3 195597261 195597261 single base substitution G T exon_variant PACA-AU 3 195597261 195597261 single base substitution G T intron_variant PACA-AU 3 195597261 195597261 single base substitution G T missense_variant A489D 1466C>A PACA-AU 3 195597261 195597261 single base substitution G T upstream_gene_variant PACA-AU 3 195597920 195597920 single base substitution G A downstream_gene_variant PACA-AU 3 195597920 195597920 single base substitution G A intron_variant PACA-AU 3 195597920 195597920 single base substitution G A upstream_gene_variant PACA-AU 3 195598027 195598027 single base substitution C T downstream_gene_variant PACA-AU 3 195598027 195598027 single base substitution C T intron_variant PACA-AU 3 195598027 195598027 single base substitution C T upstream_gene_variant PACA-AU 3 195600293 195600293 single base substitution C T intron_variant PACA-AU 3 195600293 195600293 single base substitution C T upstream_gene_variant PACA-AU 3 195601576 195601576 single base substitution A G downstream_gene_variant PACA-AU 3 195601576 195601576 single base substitution A G intron_variant PACA-AU 3 195601576 195601576 single base substitution A G upstream_gene_variant PACA-AU 3 195603944 195603944 single base substitution C T downstream_gene_variant PACA-AU 3 195603944 195603944 single base substitution C T intron_variant PACA-AU 3 195603944 195603944 single base substitution C T upstream_gene_variant PACA-AU 3 195604407 195604407 single base substitution T A downstream_gene_variant PACA-AU 3 195604407 195604407 single base substitution T A intron_variant PACA-AU 3 195604407 195604407 single base substitution T A upstream_gene_variant PACA-AU 3 195604850 195604850 single base substitution C T downstream_gene_variant PACA-AU 3 195604850 195604850 single base substitution C T intron_variant PACA-AU 3 195604850 195604850 single base substitution C T upstream_gene_variant PACA-AU 3 195616739 195616739 single base substitution C T intron_variant PACA-AU 3 195616739 195616739 single base substitution C T upstream_gene_variant PACA-AU 3 195618936 195618936 single base substitution C A intron_variant PACA-AU 3 195618936 195618936 single base substitution C A upstream_gene_variant PACA-AU 3 195620510 195620510 deletion of <=200bp C - intron_variant PACA-AU 3 195620510 195620510 deletion of <=200bp C - upstream_gene_variant PACA-AU 3 195621253 195621253 single base substitution T A intron_variant PACA-AU 3 195621253 195621253 single base substitution T A upstream_gene_variant PACA-AU 3 195621567 195621567 single base substitution G C 5_prime_UTR_variant PACA-AU 3 195621567 195621567 single base substitution G C intron_variant PACA-AU 3 195621567 195621567 single base substitution G C upstream_gene_variant PACA-AU 3 195622025 195622025 single base substitution G A intron_variant PACA-AU 3 195622025 195622025 single base substitution G A upstream_gene_variant PACA-AU 3 195624040 195624040 single base substitution C A intron_variant PACA-AU 3 195624040 195624040 single base substitution C A upstream_gene_variant PACA-AU 3 195628226 195628226 single base substitution G C intron_variant PACA-AU 3 195628226 195628226 single base substitution G C upstream_gene_variant PACA-AU 3 195629027 195629027 single base substitution G T intron_variant PACA-AU 3 195630359 195630359 single base substitution G A intron_variant PACA-AU 3 195631961 195631961 single base substitution T C intron_variant PACA-AU 3 195637465 195637465 single base substitution C T intron_variant PACA-AU 3 195637465 195637465 single base substitution C T upstream_gene_variant PACA-CA 3 195586219 195586219 single base substitution C A downstream_gene_variant PACA-CA 3 195588391 195588391 single base substitution G A downstream_gene_variant PACA-CA 3 195588869 195588869 single base substitution C T downstream_gene_variant PACA-CA 3 195591087 195591087 single base substitution T A downstream_gene_variant PACA-CA 3 195591087 195591087 single base substitution T A intron_variant PACA-CA 3 195591748 195591748 single base substitution A G downstream_gene_variant PACA-CA 3 195591748 195591748 single base substitution A G intron_variant PACA-CA 3 195592887 195592887 single base substitution C A downstream_gene_variant PACA-CA 3 195592887 195592887 single base substitution C A intron_variant PACA-CA 3 195595265 195595265 single base substitution G T 3_prime_UTR_variant PACA-CA 3 195595265 195595265 single base substitution G T downstream_gene_variant PACA-CA 3 195595265 195595265 single base substitution G T exon_variant PACA-CA 3 195595265 195595265 single base substitution G T intron_variant PACA-CA 3 195595265 195595265 single base substitution G T missense_variant P187H 560C>A PACA-CA 3 195595265 195595265 single base substitution G T missense_variant P229H 686C>A PACA-CA 3 195595265 195595265 single base substitution G T missense_variant P620H 1859C>A PACA-CA 3 195595265 195595265 single base substitution G T missense_variant P652H 1955C>A PACA-CA 3 195595265 195595265 single base substitution G T missense_variant P698H 2093C>A PACA-CA 3 195596599 195596630 deletion of <=200bp CAGTATGATAGGCAGAGGACCGGGAGATGGAG - downstream_gene_variant PACA-CA 3 195596599 195596630 deletion of <=200bp CAGTATGATAGGCAGAGGACCGGGAGATGGAG - exon_variant PACA-CA 3 195596599 195596630 deletion of <=200bp CAGTATGATAGGCAGAGGACCGGGAGATGGAG - intron_variant PACA-CA 3 195596599 195596630 deletion of <=200bp CAGTATGATAGGCAGAGGACCGGGAGATGGAG - upstream_gene_variant PACA-CA 3 195602334 195602334 single base substitution G T downstream_gene_variant PACA-CA 3 195602334 195602334 single base substitution G T intron_variant PACA-CA 3 195602334 195602334 single base substitution G T upstream_gene_variant PACA-CA 3 195602540 195602540 single base substitution G A downstream_gene_variant PACA-CA 3 195602540 195602540 single base substitution G A intron_variant PACA-CA 3 195602540 195602540 single base substitution G A upstream_gene_variant PACA-CA 3 195604187 195604187 single base substitution C G downstream_gene_variant PACA-CA 3 195604187 195604187 single base substitution C G intron_variant PACA-CA 3 195604187 195604187 single base substitution C G upstream_gene_variant PACA-CA 3 195610943 195610943 single base substitution G C downstream_gene_variant PACA-CA 3 195610943 195610943 single base substitution G C exon_variant PACA-CA 3 195610943 195610943 single base substitution G C intron_variant PACA-CA 3 195610943 195610943 single base substitution G C upstream_gene_variant PACA-CA 3 195610973 195610973 single base substitution G T downstream_gene_variant PACA-CA 3 195610973 195610973 single base substitution G T exon_variant PACA-CA 3 195610973 195610973 single base substitution G T intron_variant PACA-CA 3 195610973 195610973 single base substitution G T upstream_gene_variant PACA-CA 3 195613349 195613349 single base substitution C T downstream_gene_variant PACA-CA 3 195613349 195613349 single base substitution C T intron_variant PACA-CA 3 195613349 195613349 single base substitution C T upstream_gene_variant PACA-CA 3 195613804 195613804 single base substitution C T downstream_gene_variant PACA-CA 3 195613804 195613804 single base substitution C T intron_variant PACA-CA 3 195613804 195613804 single base substitution C T upstream_gene_variant PACA-CA 3 195615941 195615941 single base substitution A C intron_variant PACA-CA 3 195615941 195615941 single base substitution A C upstream_gene_variant PACA-CA 3 195616365 195616365 single base substitution C T intron_variant PACA-CA 3 195616365 195616365 single base substitution C T upstream_gene_variant PACA-CA 3 195624868 195624868 single base substitution G C intron_variant PACA-CA 3 195624868 195624868 single base substitution G C upstream_gene_variant PACA-CA 3 195625222 195625222 single base substitution C G intron_variant PACA-CA 3 195625222 195625222 single base substitution C G upstream_gene_variant PACA-CA 3 195627422 195627422 single base substitution C T intron_variant PACA-CA 3 195627422 195627422 single base substitution C T upstream_gene_variant PACA-CA 3 195628540 195628540 single base substitution C A intron_variant PACA-CA 3 195628540 195628540 single base substitution C A upstream_gene_variant PACA-CA 3 195628955 195628955 single base substitution G C intron_variant PACA-CA 3 195629120 195629120 single base substitution C T intron_variant PACA-CA 3 195629511 195629511 single base substitution C A intron_variant PACA-CA 3 195629593 195629593 single base substitution G C intron_variant PACA-CA 3 195629641 195629641 single base substitution G A intron_variant PACA-CA 3 195630052 195630052 single base substitution C G intron_variant PACA-CA 3 195634288 195634288 single base substitution G A intron_variant PACA-CA 3 195640288 195640288 single base substitution G A upstream_gene_variant PACA-CA 3 195643098 195643098 single base substitution A T upstream_gene_variant PACA-CA 3 195643701 195643701 single base substitution A G upstream_gene_variant PAEN-AU 3 195586973 195586973 single base substitution C T downstream_gene_variant PAEN-AU 3 195612655 195612655 single base substitution C T downstream_gene_variant PAEN-AU 3 195612655 195612655 single base substitution C T exon_variant PAEN-AU 3 195612655 195612655 single base substitution C T intron_variant PAEN-AU 3 195612655 195612655 single base substitution C T upstream_gene_variant PAEN-AU 3 195619463 195619463 single base substitution T G 5_prime_UTR_variant PAEN-AU 3 195619463 195619463 single base substitution T G exon_variant PAEN-AU 3 195619463 195619463 single base substitution T G intron_variant PAEN-AU 3 195619463 195619463 single base substitution T G upstream_gene_variant PAEN-IT 3 195599291 195599291 single base substitution C T exon_variant PAEN-IT 3 195599291 195599291 single base substitution C T missense_variant G436E 1307G>A PAEN-IT 3 195599291 195599291 single base substitution C T missense_variant G45E 134G>A PAEN-IT 3 195599291 195599291 single base substitution C T missense_variant G468E 1403G>A PAEN-IT 3 195599291 195599291 single base substitution C T missense_variant G499E 1496G>A PAEN-IT 3 195599291 195599291 single base substitution C T missense_variant G81E 242G>A PAEN-IT 3 195599291 195599291 single base substitution C T upstream_gene_variant PAEN-IT 3 195633425 195633425 single base substitution A T intron_variant PBCA-DE 3 195585386 195585387 deletion of <=200bp TG - downstream_gene_variant PBCA-DE 3 195587428 195587428 single base substitution T C downstream_gene_variant PBCA-DE 3 195587444 195587444 single base substitution C T downstream_gene_variant PBCA-DE 3 195595557 195595557 single base substitution C A 3_prime_UTR_variant PBCA-DE 3 195595557 195595557 single base substitution C A downstream_gene_variant PBCA-DE 3 195595557 195595557 single base substitution C A exon_variant PBCA-DE 3 195595557 195595557 single base substitution C A stop_gained E132* 394G>T PBCA-DE 3 195595557 195595557 single base substitution C A stop_gained E168* 502G>T PBCA-DE 3 195595557 195595557 single base substitution C A stop_gained E523* 1567G>T PBCA-DE 3 195595557 195595557 single base substitution C A stop_gained E555* 1663G>T PBCA-DE 3 195595557 195595557 single base substitution C A stop_gained E601* 1801G>T PBCA-DE 3 195595557 195595557 single base substitution C A stop_gained E90* 268G>T PBCA-DE 3 195597874 195597874 insertion of <=200bp - G downstream_gene_variant PBCA-DE 3 195597874 195597874 insertion of <=200bp - G intron_variant PBCA-DE 3 195597874 195597874 insertion of <=200bp - G upstream_gene_variant PBCA-DE 3 195598855 195598855 deletion of <=200bp T - downstream_gene_variant PBCA-DE 3 195598855 195598855 deletion of <=200bp T - intron_variant PBCA-DE 3 195598855 195598855 deletion of <=200bp T - upstream_gene_variant PBCA-DE 3 195600320 195600320 single base substitution T A intron_variant PBCA-DE 3 195600320 195600320 single base substitution T A upstream_gene_variant PBCA-DE 3 195605666 195605666 single base substitution G T downstream_gene_variant PBCA-DE 3 195605666 195605666 single base substitution G T intron_variant PBCA-DE 3 195605666 195605666 single base substitution G T upstream_gene_variant PBCA-DE 3 195614707 195614708 deletion of <=200bp GT - intron_variant PBCA-DE 3 195614707 195614708 deletion of <=200bp GT - upstream_gene_variant PBCA-DE 3 195614827 195614828 deletion of <=200bp GT - intron_variant PBCA-DE 3 195614827 195614828 deletion of <=200bp GT - upstream_gene_variant PBCA-DE 3 195622208 195622208 single base substitution A T 5_prime_UTR_variant PBCA-DE 3 195622208 195622208 single base substitution A T intron_variant PBCA-DE 3 195622208 195622208 single base substitution A T missense_variant L27H 80T>A PBCA-DE 3 195622208 195622208 single base substitution A T upstream_gene_variant PBCA-DE 3 195634856 195634856 single base substitution G A intron_variant PBCA-DE 3 195640095 195640095 insertion of <=200bp - A upstream_gene_variant PRAD-CA 3 195598803 195598803 single base substitution C A downstream_gene_variant PRAD-CA 3 195598803 195598803 single base substitution C A intron_variant PRAD-CA 3 195598803 195598803 single base substitution C A upstream_gene_variant PRAD-CA 3 195598833 195598833 single base substitution C A downstream_gene_variant PRAD-CA 3 195598833 195598833 single base substitution C A intron_variant PRAD-CA 3 195598833 195598833 single base substitution C A upstream_gene_variant PRAD-CA 3 195598863 195598863 single base substitution C A downstream_gene_variant PRAD-CA 3 195598863 195598863 single base substitution C A intron_variant PRAD-CA 3 195598863 195598863 single base substitution C A upstream_gene_variant PRAD-CA 3 195598864 195598864 single base substitution C T downstream_gene_variant PRAD-CA 3 195598864 195598864 single base substitution C T intron_variant PRAD-CA 3 195598864 195598864 single base substitution C T upstream_gene_variant PRAD-CA 3 195598924 195598924 single base substitution C T downstream_gene_variant PRAD-CA 3 195598924 195598924 single base substitution C T intron_variant PRAD-CA 3 195598924 195598924 single base substitution C T upstream_gene_variant PRAD-CA 3 195600344 195600344 single base substitution G C intron_variant PRAD-CA 3 195600344 195600344 single base substitution G C upstream_gene_variant PRAD-CA 3 195614355 195614355 single base substitution G A intron_variant PRAD-CA 3 195614355 195614355 single base substitution G A upstream_gene_variant PRAD-UK 3 195607801 195607801 single base substitution C A downstream_gene_variant PRAD-UK 3 195607801 195607801 single base substitution C A intron_variant PRAD-UK 3 195607801 195607801 single base substitution C A upstream_gene_variant PRAD-UK 3 195621679 195621679 single base substitution G T intron_variant PRAD-UK 3 195621679 195621679 single base substitution G T upstream_gene_variant PRAD-UK 3 195630506 195630506 single base substitution T A intron_variant PRAD-UK 3 195641902 195641902 single base substitution A T upstream_gene_variant READ-US 3 195594805 195594805 single base substitution A G downstream_gene_variant READ-US 3 195594805 195594805 single base substitution A G exon_variant READ-US 3 195594805 195594805 single base substitution A G synonymous_variant A340A 1020T>C READ-US 3 195594805 195594805 single base substitution A G synonymous_variant A773A 2319T>C READ-US 3 195594805 195594805 single base substitution A G synonymous_variant A805A 2415T>C READ-US 3 195594805 195594805 single base substitution A G synonymous_variant A851A 2553T>C READ-US 3 195622245 195622245 single base substitution C T 5_prime_UTR_variant READ-US 3 195622245 195622245 single base substitution C T intron_variant READ-US 3 195622245 195622245 single base substitution C T missense_variant A15T 43G>A READ-US 3 195622245 195622245 single base substitution C T upstream_gene_variant RECA-EU 3 195585586 195585586 single base substitution A C downstream_gene_variant RECA-EU 3 195588781 195588781 single base substitution T A downstream_gene_variant RECA-EU 3 195602416 195602416 single base substitution T C downstream_gene_variant RECA-EU 3 195602416 195602416 single base substitution T C intron_variant RECA-EU 3 195602416 195602416 single base substitution T C upstream_gene_variant RECA-EU 3 195603802 195603802 single base substitution C A downstream_gene_variant RECA-EU 3 195603802 195603802 single base substitution C A intron_variant RECA-EU 3 195603802 195603802 single base substitution C A upstream_gene_variant RECA-EU 3 195606528 195606528 single base substitution C G intron_variant RECA-EU 3 195606528 195606528 single base substitution C G upstream_gene_variant RECA-EU 3 195608890 195608890 single base substitution G T downstream_gene_variant RECA-EU 3 195608890 195608890 single base substitution G T intron_variant RECA-EU 3 195608890 195608890 single base substitution G T upstream_gene_variant RECA-EU 3 195610942 195610942 single base substitution G A downstream_gene_variant RECA-EU 3 195610942 195610942 single base substitution G A exon_variant RECA-EU 3 195610942 195610942 single base substitution G A intron_variant RECA-EU 3 195610942 195610942 single base substitution G A upstream_gene_variant RECA-EU 3 195610985 195610985 single base substitution C G downstream_gene_variant RECA-EU 3 195610985 195610985 single base substitution C G exon_variant RECA-EU 3 195610985 195610985 single base substitution C G intron_variant RECA-EU 3 195610985 195610985 single base substitution C G upstream_gene_variant RECA-EU 3 195631867 195631867 single base substitution T A intron_variant RECA-EU 3 195638310 195638310 single base substitution T G intron_variant RECA-EU 3 195638310 195638310 single base substitution T G upstream_gene_variant RECA-EU 3 195638551 195638551 single base substitution G T intron_variant RECA-EU 3 195638551 195638551 single base substitution G T upstream_gene_variant RECA-EU 3 195641561 195641561 single base substitution C G upstream_gene_variant SKCA-BR 3 195585689 195585689 single base substitution G A downstream_gene_variant SKCA-BR 3 195590046 195590046 single base substitution A G downstream_gene_variant SKCA-BR 3 195591717 195591717 single base substitution A C downstream_gene_variant SKCA-BR 3 195591717 195591717 single base substitution A C intron_variant SKCA-BR 3 195593053 195593053 single base substitution G A downstream_gene_variant SKCA-BR 3 195593053 195593053 single base substitution G A intron_variant SKCA-BR 3 195595657 195595657 single base substitution G A downstream_gene_variant SKCA-BR 3 195595657 195595657 single base substitution G A exon_variant SKCA-BR 3 195595657 195595657 single base substitution G A intron_variant SKCA-BR 3 195597656 195597656 single base substitution A C downstream_gene_variant SKCA-BR 3 195597656 195597656 single base substitution A C intron_variant SKCA-BR 3 195597656 195597656 single base substitution A C upstream_gene_variant SKCA-BR 3 195597873 195597873 insertion of <=200bp - TG downstream_gene_variant SKCA-BR 3 195597873 195597873 insertion of <=200bp - TG intron_variant SKCA-BR 3 195597873 195597873 insertion of <=200bp - TG upstream_gene_variant SKCA-BR 3 195597894 195597894 single base substitution C T downstream_gene_variant SKCA-BR 3 195597894 195597894 single base substitution C T intron_variant SKCA-BR 3 195597894 195597894 single base substitution C T upstream_gene_variant SKCA-BR 3 195598818 195598818 single base substitution A C downstream_gene_variant SKCA-BR 3 195598818 195598818 single base substitution A C intron_variant SKCA-BR 3 195598818 195598818 single base substitution A C upstream_gene_variant SKCA-BR 3 195598819 195598834 deletion of <=200bp TTCCCCTGGAGAACCC - downstream_gene_variant SKCA-BR 3 195598819 195598834 deletion of <=200bp TTCCCCTGGAGAACCC - intron_variant SKCA-BR 3 195598819 195598834 deletion of <=200bp TTCCCCTGGAGAACCC - upstream_gene_variant SKCA-BR 3 195598824 195598825 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 3 195598824 195598825 deletion of <=200bp CT - intron_variant SKCA-BR 3 195598824 195598825 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 3 195598849 195598849 insertion of <=200bp - CTCCCCGGAGAACCC downstream_gene_variant SKCA-BR 3 195598849 195598849 insertion of <=200bp - CTCCCCGGAGAACCC intron_variant SKCA-BR 3 195598849 195598849 insertion of <=200bp - CTCCCCGGAGAACCC upstream_gene_variant SKCA-BR 3 195598863 195598863 single base substitution C A downstream_gene_variant SKCA-BR 3 195598863 195598863 single base substitution C A intron_variant SKCA-BR 3 195598863 195598863 single base substitution C A upstream_gene_variant SKCA-BR 3 195600227 195600227 single base substitution T C intron_variant SKCA-BR 3 195600227 195600227 single base substitution T C upstream_gene_variant SKCA-BR 3 195602288 195602288 single base substitution A G downstream_gene_variant SKCA-BR 3 195602288 195602288 single base substitution A G intron_variant SKCA-BR 3 195602288 195602288 single base substitution A G upstream_gene_variant SKCA-BR 3 195602289 195602289 single base substitution G T downstream_gene_variant SKCA-BR 3 195602289 195602289 single base substitution G T intron_variant SKCA-BR 3 195602289 195602289 single base substitution G T upstream_gene_variant SKCA-BR 3 195602292 195602292 single base substitution G A downstream_gene_variant SKCA-BR 3 195602292 195602292 single base substitution G A intron_variant SKCA-BR 3 195602292 195602292 single base substitution G A upstream_gene_variant SKCA-BR 3 195602352 195602352 single base substitution G A downstream_gene_variant SKCA-BR 3 195602352 195602352 single base substitution G A intron_variant SKCA-BR 3 195602352 195602352 single base substitution G A upstream_gene_variant SKCA-BR 3 195605074 195605074 single base substitution C G downstream_gene_variant SKCA-BR 3 195605074 195605074 single base substitution C G intron_variant SKCA-BR 3 195605074 195605074 single base substitution C G upstream_gene_variant SKCA-BR 3 195606677 195606677 single base substitution G A intron_variant SKCA-BR 3 195606677 195606677 single base substitution G A upstream_gene_variant SKCA-BR 3 195606678 195606678 single base substitution G A intron_variant SKCA-BR 3 195606678 195606678 single base substitution G A upstream_gene_variant SKCA-BR 3 195607381 195607383 deletion of <=200bp ACC - downstream_gene_variant SKCA-BR 3 195607381 195607383 deletion of <=200bp ACC - intron_variant SKCA-BR 3 195607381 195607383 deletion of <=200bp ACC - upstream_gene_variant SKCA-BR 3 195610007 195610007 single base substitution C T downstream_gene_variant SKCA-BR 3 195610007 195610007 single base substitution C T intron_variant SKCA-BR 3 195610007 195610007 single base substitution C T upstream_gene_variant SKCA-BR 3 195612059 195612059 single base substitution C T downstream_gene_variant SKCA-BR 3 195612059 195612059 single base substitution C T exon_variant SKCA-BR 3 195612059 195612059 single base substitution C T intron_variant SKCA-BR 3 195612059 195612059 single base substitution C T upstream_gene_variant SKCA-BR 3 195612254 195612254 single base substitution A C downstream_gene_variant SKCA-BR 3 195612254 195612254 single base substitution A C exon_variant SKCA-BR 3 195612254 195612254 single base substitution A C intron_variant SKCA-BR 3 195612254 195612254 single base substitution A C upstream_gene_variant SKCA-BR 3 195614355 195614355 single base substitution G A intron_variant SKCA-BR 3 195614355 195614355 single base substitution G A upstream_gene_variant SKCA-BR 3 195614826 195614828 deletion of <=200bp CGT - intron_variant SKCA-BR 3 195614826 195614828 deletion of <=200bp CGT - upstream_gene_variant SKCA-BR 3 195616687 195616687 single base substitution G A intron_variant SKCA-BR 3 195616687 195616687 single base substitution G A upstream_gene_variant SKCA-BR 3 195619549 195619549 insertion of <=200bp - AGAG 5_prime_UTR_variant SKCA-BR 3 195619549 195619549 insertion of <=200bp - AGAG exon_variant SKCA-BR 3 195619549 195619549 insertion of <=200bp - AGAG intron_variant SKCA-BR 3 195619549 195619549 insertion of <=200bp - AGAG upstream_gene_variant SKCA-BR 3 195622371 195622371 single base substitution T C 5_prime_UTR_variant SKCA-BR 3 195622371 195622371 single base substitution T C intron_variant SKCA-BR 3 195622371 195622371 single base substitution T C upstream_gene_variant SKCA-BR 3 195622486 195622486 single base substitution A C intron_variant SKCA-BR 3 195622486 195622486 single base substitution A C upstream_gene_variant SKCA-BR 3 195623440 195623440 single base substitution G C intron_variant SKCA-BR 3 195623440 195623440 single base substitution G C upstream_gene_variant SKCA-BR 3 195624051 195624051 single base substitution G A intron_variant SKCA-BR 3 195624051 195624051 single base substitution G A upstream_gene_variant SKCA-BR 3 195624278 195624278 single base substitution G A intron_variant SKCA-BR 3 195624278 195624278 single base substitution G A upstream_gene_variant SKCA-BR 3 195624484 195624484 single base substitution T C intron_variant SKCA-BR 3 195624484 195624484 single base substitution T C upstream_gene_variant SKCA-BR 3 195625531 195625532 deletion of <=200bp CT - intron_variant SKCA-BR 3 195625531 195625532 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 3 195629500 195629500 single base substitution A C intron_variant SKCA-BR 3 195629782 195629782 single base substitution G A intron_variant SKCA-BR 3 195632515 195632515 single base substitution C T intron_variant SKCA-BR 3 195638849 195638849 single base substitution G A upstream_gene_variant SKCA-BR 3 195638968 195638968 single base substitution G A upstream_gene_variant SKCA-BR 3 195639207 195639207 single base substitution C T upstream_gene_variant SKCA-BR 3 195639902 195639902 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 3 195640954 195640954 single base substitution G A upstream_gene_variant SKCA-BR 3 195641474 195641474 single base substitution T G upstream_gene_variant SKCA-BR 3 195641788 195641788 single base substitution A G upstream_gene_variant SKCA-BR 3 195642079 195642079 single base substitution G A upstream_gene_variant SKCM-US 3 195594365 195594365 single base substitution T C downstream_gene_variant SKCM-US 3 195594365 195594365 single base substitution T C exon_variant SKCM-US 3 195594365 195594365 single base substitution T C missense_variant K487R 1460A>G SKCM-US 3 195594365 195594365 single base substitution T C missense_variant K920R 2759A>G SKCM-US 3 195594365 195594365 single base substitution T C missense_variant K952R 2855A>G SKCM-US 3 195594365 195594365 single base substitution T C missense_variant K998R 2993A>G SKCM-US 3 195594450 195594450 single base substitution G A downstream_gene_variant SKCM-US 3 195594450 195594450 single base substitution G A exon_variant SKCM-US 3 195594450 195594450 single base substitution G A synonymous_variant L459L 1375C>T SKCM-US 3 195594450 195594450 single base substitution G A synonymous_variant L892L 2674C>T SKCM-US 3 195594450 195594450 single base substitution G A synonymous_variant L924L 2770C>T SKCM-US 3 195594450 195594450 single base substitution G A synonymous_variant L970L 2908C>T SKCM-US 3 195594499 195594499 single base substitution G A downstream_gene_variant SKCM-US 3 195594499 195594499 single base substitution G A exon_variant SKCM-US 3 195594499 195594499 single base substitution G A synonymous_variant F442F 1326C>T SKCM-US 3 195594499 195594499 single base substitution G A synonymous_variant F875F 2625C>T SKCM-US 3 195594499 195594499 single base substitution G A synonymous_variant F907F 2721C>T SKCM-US 3 195594499 195594499 single base substitution G A synonymous_variant F953F 2859C>T SKCM-US 3 195594769 195594769 single base substitution G A downstream_gene_variant SKCM-US 3 195594769 195594769 single base substitution G A exon_variant SKCM-US 3 195594769 195594769 single base substitution G A synonymous_variant S352S 1056C>T SKCM-US 3 195594769 195594769 single base substitution G A synonymous_variant S785S 2355C>T SKCM-US 3 195594769 195594769 single base substitution G A synonymous_variant S817S 2451C>T SKCM-US 3 195594769 195594769 single base substitution G A synonymous_variant S863S 2589C>T SKCM-US 3 195594947 195594947 single base substitution G A downstream_gene_variant SKCM-US 3 195594947 195594947 single base substitution G A exon_variant SKCM-US 3 195594947 195594947 single base substitution G A missense_variant A293V 878C>T SKCM-US 3 195594947 195594947 single base substitution G A missense_variant A726V 2177C>T SKCM-US 3 195594947 195594947 single base substitution G A missense_variant A758V 2273C>T SKCM-US 3 195594947 195594947 single base substitution G A missense_variant A804V 2411C>T SKCM-US 3 195595280 195595280 single base substitution G A 3_prime_UTR_variant SKCM-US 3 195595280 195595280 single base substitution G A downstream_gene_variant SKCM-US 3 195595280 195595280 single base substitution G A exon_variant SKCM-US 3 195595280 195595280 single base substitution G A intron_variant SKCM-US 3 195595280 195595280 single base substitution G A missense_variant P182L 545C>T SKCM-US 3 195595280 195595280 single base substitution G A missense_variant P224L 671C>T SKCM-US 3 195595280 195595280 single base substitution G A missense_variant P615L 1844C>T SKCM-US 3 195595280 195595280 single base substitution G A missense_variant P647L 1940C>T SKCM-US 3 195595280 195595280 single base substitution G A missense_variant P693L 2078C>T SKCM-US 3 195595288 195595288 single base substitution C A 3_prime_UTR_variant SKCM-US 3 195595288 195595288 single base substitution C A downstream_gene_variant SKCM-US 3 195595288 195595288 single base substitution C A exon_variant SKCM-US 3 195595288 195595288 single base substitution C A intron_variant SKCM-US 3 195595288 195595288 single base substitution C A synonymous_variant L179L 537G>T SKCM-US 3 195595288 195595288 single base substitution C A synonymous_variant L221L 663G>T SKCM-US 3 195595288 195595288 single base substitution C A synonymous_variant L612L 1836G>T SKCM-US 3 195595288 195595288 single base substitution C A synonymous_variant L644L 1932G>T SKCM-US 3 195595288 195595288 single base substitution C A synonymous_variant L690L 2070G>T SKCM-US 3 195599249 195599249 single base substitution G A exon_variant SKCM-US 3 195599249 195599249 single base substitution G A missense_variant S2L 5C>T SKCM-US 3 195599249 195599249 single base substitution G A missense_variant S450L 1349C>T SKCM-US 3 195599249 195599249 single base substitution G A missense_variant S482L 1445C>T SKCM-US 3 195599249 195599249 single base substitution G A missense_variant S513L 1538C>T SKCM-US 3 195599249 195599249 single base substitution G A missense_variant S59L 176C>T SKCM-US 3 195599249 195599249 single base substitution G A missense_variant S95L 284C>T SKCM-US 3 195599249 195599249 single base substitution G A upstream_gene_variant SKCM-US 3 195599264 195599264 single base substitution G A exon_variant SKCM-US 3 195599264 195599264 single base substitution G A missense_variant S445F 1334C>T SKCM-US 3 195599264 195599264 single base substitution G A missense_variant S477F 1430C>T SKCM-US 3 195599264 195599264 single base substitution G A missense_variant S508F 1523C>T SKCM-US 3 195599264 195599264 single base substitution G A missense_variant S54F 161C>T SKCM-US 3 195599264 195599264 single base substitution G A missense_variant S90F 269C>T SKCM-US 3 195599264 195599264 single base substitution G A upstream_gene_variant SKCM-US 3 195605354 195605354 single base substitution C T downstream_gene_variant SKCM-US 3 195605354 195605354 single base substitution C T exon_variant SKCM-US 3 195605354 195605354 single base substitution C T intron_variant SKCM-US 3 195605354 195605354 single base substitution C T missense_variant R375K 1124G>A SKCM-US 3 195605354 195605354 single base substitution C T missense_variant R407K 1220G>A SKCM-US 3 195605354 195605354 single base substitution C T missense_variant R438K 1313G>A SKCM-US 3 195605354 195605354 single base substitution C T upstream_gene_variant SKCM-US 3 195605370 195605370 single base substitution G A downstream_gene_variant SKCM-US 3 195605370 195605370 single base substitution G A exon_variant SKCM-US 3 195605370 195605370 single base substitution G A intron_variant SKCM-US 3 195605370 195605370 single base substitution G A missense_variant H370Y 1108C>T SKCM-US 3 195605370 195605370 single base substitution G A missense_variant H402Y 1204C>T SKCM-US 3 195605370 195605370 single base substitution G A missense_variant H433Y 1297C>T SKCM-US 3 195605370 195605370 single base substitution G A upstream_gene_variant SKCM-US 3 195605956 195605956 single base substitution G A 3_prime_UTR_variant SKCM-US 3 195605956 195605956 single base substitution G A downstream_gene_variant SKCM-US 3 195605956 195605956 single base substitution G A exon_variant SKCM-US 3 195605956 195605956 single base substitution G A intron_variant SKCM-US 3 195605956 195605956 single base substitution G A synonymous_variant Y250Y 750C>T SKCM-US 3 195605956 195605956 single base substitution G A synonymous_variant Y326Y 978C>T SKCM-US 3 195605956 195605956 single base substitution G A synonymous_variant Y358Y 1074C>T SKCM-US 3 195605956 195605956 single base substitution G A synonymous_variant Y389Y 1167C>T SKCM-US 3 195605956 195605956 single base substitution G A upstream_gene_variant SKCM-US 3 195605959 195605959 single base substitution G A 3_prime_UTR_variant SKCM-US 3 195605959 195605959 single base substitution G A downstream_gene_variant SKCM-US 3 195605959 195605959 single base substitution G A exon_variant SKCM-US 3 195605959 195605959 single base substitution G A intron_variant SKCM-US 3 195605959 195605959 single base substitution G A synonymous_variant T249T 747C>T SKCM-US 3 195605959 195605959 single base substitution G A synonymous_variant T325T 975C>T SKCM-US 3 195605959 195605959 single base substitution G A synonymous_variant T357T 1071C>T SKCM-US 3 195605959 195605959 single base substitution G A synonymous_variant T388T 1164C>T SKCM-US 3 195605959 195605959 single base substitution G A upstream_gene_variant SKCM-US 3 195609137 195609137 single base substitution G A 3_prime_UTR_variant SKCM-US 3 195609137 195609137 single base substitution G A downstream_gene_variant SKCM-US 3 195609137 195609137 single base substitution G A exon_variant SKCM-US 3 195609137 195609137 single base substitution G A intron_variant SKCM-US 3 195609137 195609137 single base substitution G A synonymous_variant F148F 444C>T SKCM-US 3 195609137 195609137 single base substitution G A synonymous_variant F224F 672C>T SKCM-US 3 195609137 195609137 single base substitution G A synonymous_variant F256F 768C>T SKCM-US 3 195609137 195609137 single base substitution G A synonymous_variant F287F 861C>T SKCM-US 3 195609137 195609137 single base substitution G A upstream_gene_variant SKCM-US 3 195609174 195609174 single base substitution G A 3_prime_UTR_variant SKCM-US 3 195609174 195609174 single base substitution G A downstream_gene_variant SKCM-US 3 195609174 195609174 single base substitution G A exon_variant SKCM-US 3 195609174 195609174 single base substitution G A intron_variant SKCM-US 3 195609174 195609174 single base substitution G A missense_variant S136L 407C>T SKCM-US 3 195609174 195609174 single base substitution G A missense_variant S212L 635C>T SKCM-US 3 195609174 195609174 single base substitution G A missense_variant S244L 731C>T SKCM-US 3 195609174 195609174 single base substitution G A missense_variant S275L 824C>T SKCM-US 3 195609174 195609174 single base substitution G A upstream_gene_variant SKCM-US 3 195610038 195610038 single base substitution G A downstream_gene_variant SKCM-US 3 195610038 195610038 single base substitution G A exon_variant SKCM-US 3 195610038 195610038 single base substitution G A intron_variant SKCM-US 3 195610038 195610038 single base substitution G A missense_variant P124L 371C>T SKCM-US 3 195610038 195610038 single base substitution G A missense_variant P200L 599C>T SKCM-US 3 195610038 195610038 single base substitution G A missense_variant P232L 695C>T SKCM-US 3 195610038 195610038 single base substitution G A missense_variant P263L 788C>T SKCM-US 3 195610038 195610038 single base substitution G A upstream_gene_variant SKCM-US 3 195615303 195615303 single base substitution G A exon_variant SKCM-US 3 195615303 195615303 single base substitution G A intron_variant SKCM-US 3 195615303 195615303 single base substitution G A missense_variant R116W 346C>T SKCM-US 3 195615303 195615303 single base substitution G A missense_variant R117W 349C>T SKCM-US 3 195615303 195615303 single base substitution G A missense_variant R51W 151C>T SKCM-US 3 195615303 195615303 single base substitution G A missense_variant R53W 157C>T SKCM-US 3 195615303 195615303 single base substitution G A missense_variant R85W 253C>T SKCM-US 3 195615303 195615303 single base substitution G A upstream_gene_variant STAD-US 3 195594114 195594114 single base substitution C T downstream_gene_variant STAD-US 3 195594114 195594114 single base substitution C T exon_variant STAD-US 3 195594114 195594114 single base substitution C T intron_variant STAD-US 3 195594114 195594114 single base substitution C T missense_variant V539M 1615G>A STAD-US 3 195594114 195594114 single base substitution C T missense_variant V970M 2908G>A STAD-US 3 195594422 195594422 single base substitution G A downstream_gene_variant STAD-US 3 195594422 195594422 single base substitution G A exon_variant STAD-US 3 195594422 195594422 single base substitution G A missense_variant A468V 1403C>T STAD-US 3 195594422 195594422 single base substitution G A missense_variant A901V 2702C>T STAD-US 3 195594422 195594422 single base substitution G A missense_variant A933V 2798C>T STAD-US 3 195594422 195594422 single base substitution G A missense_variant A979V 2936C>T STAD-US 3 195594633 195594633 deletion of <=200bp G - downstream_gene_variant STAD-US 3 195594633 195594633 deletion of <=200bp G - exon_variant STAD-US 3 195594633 195594633 deletion of <=200bp G - frameshift_variant Q398 STAD-US 3 195594633 195594633 deletion of <=200bp G - frameshift_variant Q831 STAD-US 3 195594633 195594633 deletion of <=200bp G - frameshift_variant Q863 STAD-US 3 195594633 195594633 deletion of <=200bp G - frameshift_variant Q909 STAD-US 3 195594872 195594872 single base substitution C T downstream_gene_variant STAD-US 3 195594872 195594872 single base substitution C T exon_variant STAD-US 3 195594872 195594872 single base substitution C T missense_variant R318H 953G>A STAD-US 3 195594872 195594872 single base substitution C T missense_variant R751H 2252G>A STAD-US 3 195594872 195594872 single base substitution C T missense_variant R783H 2348G>A STAD-US 3 195594872 195594872 single base substitution C T missense_variant R829H 2486G>A STAD-US 3 195594978 195594978 single base substitution T C downstream_gene_variant STAD-US 3 195594978 195594978 single base substitution T C exon_variant STAD-US 3 195594978 195594978 single base substitution T C missense_variant R283G 847A>G STAD-US 3 195594978 195594978 single base substitution T C missense_variant R716G 2146A>G STAD-US 3 195594978 195594978 single base substitution T C missense_variant R748G 2242A>G STAD-US 3 195594978 195594978 single base substitution T C missense_variant R794G 2380A>G STAD-US 3 195595140 195595140 single base substitution C T 3_prime_UTR_variant STAD-US 3 195595140 195595140 single base substitution C T downstream_gene_variant STAD-US 3 195595140 195595140 single base substitution C T exon_variant STAD-US 3 195595140 195595140 single base substitution C T missense_variant G229R 685G>A STAD-US 3 195595140 195595140 single base substitution C T missense_variant G662R 1984G>A STAD-US 3 195595140 195595140 single base substitution C T missense_variant G694R 2080G>A STAD-US 3 195595140 195595140 single base substitution C T missense_variant G740R 2218G>A STAD-US 3 195595229 195595229 insertion of <=200bp - G 3_prime_UTR_variant STAD-US 3 195595229 195595229 insertion of <=200bp - G downstream_gene_variant STAD-US 3 195595229 195595229 insertion of <=200bp - G exon_variant STAD-US 3 195595229 195595229 insertion of <=200bp - G frameshift_variant P199P? STAD-US 3 195595229 195595229 insertion of <=200bp - G frameshift_variant P241P? STAD-US 3 195595229 195595229 insertion of <=200bp - G frameshift_variant P632P? STAD-US 3 195595229 195595229 insertion of <=200bp - G frameshift_variant P664P? STAD-US 3 195595229 195595229 insertion of <=200bp - G frameshift_variant P710P? STAD-US 3 195595229 195595229 insertion of <=200bp - G intron_variant STAD-US 3 195595338 195595338 single base substitution C T 3_prime_UTR_variant STAD-US 3 195595338 195595338 single base substitution C T downstream_gene_variant STAD-US 3 195595338 195595338 single base substitution C T exon_variant STAD-US 3 195595338 195595338 single base substitution C T intron_variant STAD-US 3 195595338 195595338 single base substitution C T missense_variant A163T 487G>A STAD-US 3 195595338 195595338 single base substitution C T missense_variant A205T 613G>A STAD-US 3 195595338 195595338 single base substitution C T missense_variant A596T 1786G>A STAD-US 3 195595338 195595338 single base substitution C T missense_variant A628T 1882G>A STAD-US 3 195595338 195595338 single base substitution C T missense_variant A674T 2020G>A STAD-US 3 195613863 195613863 single base substitution C A exon_variant STAD-US 3 195613863 195613863 single base substitution C A intron_variant STAD-US 3 195613863 195613863 single base substitution C A missense_variant K105N 315G>T STAD-US 3 195613863 195613863 single base substitution C A missense_variant K136N 408G>T STAD-US 3 195613863 195613863 single base substitution C A missense_variant K137N 411G>T STAD-US 3 195613863 195613863 single base substitution C A missense_variant K71N 213G>T STAD-US 3 195613863 195613863 single base substitution C A missense_variant K73N 219G>T STAD-US 3 195613863 195613863 single base substitution C A upstream_gene_variant THCA-SA 3 195594250 195594250 single base substitution T C downstream_gene_variant THCA-SA 3 195594250 195594250 single base substitution T C exon_variant THCA-SA 3 195594250 195594250 single base substitution T C synonymous_variant P1036P 3108A>G THCA-SA 3 195594250 195594250 single base substitution T C synonymous_variant P525P 1575A>G THCA-SA 3 195594250 195594250 single base substitution T C synonymous_variant P958P 2874A>G THCA-SA 3 195594250 195594250 single base substitution T C synonymous_variant P990P 2970A>G THCA-SA 3 195615368 195615368 single base substitution T A exon_variant THCA-SA 3 195615368 195615368 single base substitution T A intron_variant THCA-SA 3 195615368 195615368 single base substitution T A missense_variant N29I 86A>T THCA-SA 3 195615368 195615368 single base substitution T A missense_variant N31I 92A>T THCA-SA 3 195615368 195615368 single base substitution T A missense_variant N63I 188A>T THCA-SA 3 195615368 195615368 single base substitution T A missense_variant N94I 281A>T THCA-SA 3 195615368 195615368 single base substitution T A missense_variant N95I 284A>T THCA-SA 3 195615368 195615368 single base substitution T A upstream_gene_variant UCEC-US 3 195593783 195593783 single base substitution G A downstream_gene_variant UCEC-US 3 195593783 195593783 single base substitution G A exon_variant UCEC-US 3 195593783 195593783 single base substitution G A synonymous_variant G1029G 3087C>T UCEC-US 3 195593783 195593783 single base substitution G A synonymous_variant G1031G 3093C>T UCEC-US 3 195593783 195593783 single base substitution G A synonymous_variant G1077G 3231C>T UCEC-US 3 195593783 195593783 single base substitution G A synonymous_variant G598G 1794C>T UCEC-US 3 195594305 195594305 single base substitution G T downstream_gene_variant UCEC-US 3 195594305 195594305 single base substitution G T exon_variant UCEC-US 3 195594305 195594305 single base substitution G T missense_variant T1018N 3053C>A UCEC-US 3 195594305 195594305 single base substitution G T missense_variant T507N 1520C>A UCEC-US 3 195594305 195594305 single base substitution G T missense_variant T940N 2819C>A UCEC-US 3 195594305 195594305 single base substitution G T missense_variant T972N 2915C>A UCEC-US 3 195594352 195594352 single base substitution G T downstream_gene_variant UCEC-US 3 195594352 195594352 single base substitution G T exon_variant UCEC-US 3 195594352 195594352 single base substitution G T synonymous_variant S1002S 3006C>A UCEC-US 3 195594352 195594352 single base substitution G T synonymous_variant S491S 1473C>A UCEC-US 3 195594352 195594352 single base substitution G T synonymous_variant S924S 2772C>A UCEC-US 3 195594352 195594352 single base substitution G T synonymous_variant S956S 2868C>A UCEC-US 3 195605956 195605956 single base substitution G A 3_prime_UTR_variant UCEC-US 3 195605956 195605956 single base substitution G A downstream_gene_variant UCEC-US 3 195605956 195605956 single base substitution G A exon_variant UCEC-US 3 195605956 195605956 single base substitution G A intron_variant UCEC-US 3 195605956 195605956 single base substitution G A synonymous_variant Y250Y 750C>T UCEC-US 3 195605956 195605956 single base substitution G A synonymous_variant Y326Y 978C>T UCEC-US 3 195605956 195605956 single base substitution G A synonymous_variant Y358Y 1074C>T UCEC-US 3 195605956 195605956 single base substitution G A synonymous_variant Y389Y 1167C>T UCEC-US 3 195605956 195605956 single base substitution G A upstream_gene_variant UCEC-US 3 195608985 195608985 single base substitution C T 3_prime_UTR_variant UCEC-US 3 195608985 195608985 single base substitution C T downstream_gene_variant UCEC-US 3 195608985 195608985 single base substitution C T exon_variant UCEC-US 3 195608985 195608985 single base substitution C T intron_variant UCEC-US 3 195608985 195608985 single base substitution C T missense_variant R199Q 596G>A UCEC-US 3 195608985 195608985 single base substitution C T missense_variant R275Q 824G>A UCEC-US 3 195608985 195608985 single base substitution C T missense_variant R307Q 920G>A UCEC-US 3 195608985 195608985 single base substitution C T missense_variant R338Q 1013G>A UCEC-US 3 195608985 195608985 single base substitution C T upstream_gene_variant UCEC-US 3 195608999 195608999 single base substitution G C 3_prime_UTR_variant UCEC-US 3 195608999 195608999 single base substitution G C downstream_gene_variant UCEC-US 3 195608999 195608999 single base substitution G C exon_variant UCEC-US 3 195608999 195608999 single base substitution G C intron_variant UCEC-US 3 195608999 195608999 single base substitution G C missense_variant D194E 582C>G UCEC-US 3 195608999 195608999 single base substitution G C missense_variant D270E 810C>G UCEC-US 3 195608999 195608999 single base substitution G C missense_variant D302E 906C>G UCEC-US 3 195608999 195608999 single base substitution G C missense_variant D333E 999C>G UCEC-US 3 195608999 195608999 single base substitution G C upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 587256 COSM1229930 c.158G>A p.R53Q Substitution - Missense 3:195888431-195888431 - CCK81 COSM2946922 c.2576A>C p.Y859S Substitution - Missense 3:195867677-195867677 - TCGA-CW-6087-01 COSM4857155 c.2514G>A p.P838P Substitution - coding silent 3:195867739-195867739 - T3090 COSM1421942 c.2491delC p.Q831fs*2 Deletion - Frameshift 3:195867762-195867762 - CSCC-44-T COSM4563807 c.801G>T p.K267N Substitution - Missense 3:195882137-195882137 - CHC1756T COSM4804402 c.2784C>T p.S928S Substitution - coding silent 3:195867469-195867469 - CSCC-49-T COSM2947133 c.69C>T p.F23F Substitution - coding silent 3:195888520-195888520 - TCGA-EK-A2RA-01 COSM4848324 c.880T>C p.F294L Substitution - Missense 3:195882058-195882058 - AOCS-155-3-5 COSM4149798 c.259G>T p.A87S Substitution - Missense 3:195885009-195885009 - PTC-28C COSM4157928 c.2645C>T p.P882L Substitution - Missense 3:195867608-195867608 - TCGA-BR-8680-01 COSM4116360 c.219G>T p.K73N Substitution - Missense 3:195886992-195886992 - TCGA-08-0350-01 COSM1559639 c.1611G>A p.L537L Substitution - coding silent 3:195868642-195868642 - TCGA-CK-4951-01 COSM5151726 c.2482G>A p.A828T Substitution - Missense 3:195867771-195867771 - SNU-C2B COSM4651508 c.2798G>A p.R933Q Substitution - Missense 3:195867455-195867455 - TCGA-EE-A2M5-06 COSM1685942 c.635C>T p.S212L Substitution - Missense 3:195882303-195882303 - ITNET_0118_T COSM4963892 c.1307G>A p.G436E Substitution - Missense 3:195872420-195872420 - WA10 COSM238329 c.222G>A p.S74S Substitution - coding silent 3:195886989-195886989 - EGC15 COSM1186488 c.914G>A p.R305H Substitution - Missense 3:195879149-195879149 - LS174T COSM4611449 c.1482delC p.D495fs*3 Deletion - Frameshift 3:195870175-195870175 - CCK81 COSM4611449 c.1482delC p.D495fs*3 Deletion - Frameshift 3:195870175-195870175 - CP50-MEL-B COSM21042 c.126G>A p.K42K Substitution - coding silent 3:195888463-195888463 - TCGA-A5-A0GB-01 COSM1154126 c.824G>A p.R275Q Substitution - Missense 3:195882114-195882114 - 2521259 COSM5889970 c.1823C>T p.P608L Substitution - Missense 3:195868430-195868430 - pfg143T COSM4650631 c.1769C>T p.A590V Substitution - Missense 3:195868484-195868484 - TCGA-EE-A29P-06 COSM3591817 c.599C>T p.P200L Substitution - Missense 3:195883167-195883167 - TCGA-HU-8602-01 COSM4116354 c.1984G>A p.G662R Substitution - Missense 3:195868269-195868269 - PD0880a COSM20645 c.296G>A p.R99Q Substitution - Missense 3:195884972-195884972 - TCGA-AA-A022-01 COSM5124776 c.593C>T p.T198M Substitution - Missense 3:195883173-195883173 - SNU-C4 COSM1421947 c.1482_1483insC p.D495fs*25 Insertion - Frameshift 3:195870174-195870175 - MBRep_T56 COSM4787404 c.1567G>T p.E523* Substitution - Nonsense 3:195868686-195868686 - 587220 COSM1229920 c.1970C>T p.A657V Substitution - Missense 3:195868283-195868283 - TCGA-AA-3864-01 COSM5115169 c.2987A>G p.E996G Substitution - Missense 3:195867012-195867012 - 394 COSM3723917 c.294C>T p.F98F Substitution - coding silent 3:195884974-195884974 - T13 COSM5344441 c.2746G>T p.A916S Substitution - Missense 3:195867507-195867507 - TCGA-DD-A114-01 COSM4925461 c.1039G>T p.G347W Substitution - Missense 3:195878568-195878568 - sysucc-1397T COSM5474595 c.1759C>T p.P587S Substitution - Missense 3:195868494-195868494 - TCGA-EE-A29S-06 COSM233619 c.1349C>T p.S450L Substitution - Missense 3:195872378-195872378 - PD1483a COSM20528 c.1227G>A p.M409I Substitution - Missense 3:195878282-195878282 - TCGA-BR-8372-01 COSM4116344 c.2702C>T p.A901V Substitution - Missense 3:195867551-195867551 - TCGA-BR-8680-01 COSM4116361 c.219G>T p.K73N Substitution - Missense 3:195886992-195886992 - SNU-175 COSM4650631 c.1769C>T p.A590V Substitution - Missense 3:195868484-195868484 - TCGA-DK-A3IK-01 COSM1308980 c.570C>T p.I190I Substitution - coding silent 3:195883196-195883196 - S0024 COSM5883806 c.2203G>A p.D735N Substitution - Missense 3:195868050-195868050 - sysucc-1317T COSM1229920 c.1970C>T p.A657V Substitution - Missense 3:195868283-195868283 - CSCC-31-T COSM4542431 c.3042G>A p.E1014E Substitution - coding silent 3:195866957-195866957 - TCGA-EE-A3J5-06 COSM3591782 c.2674C>T p.L892L Substitution - coding silent 3:195867579-195867579 - EGC3 COSM4734959 c.1895delC p.P632fs*84 Deletion - Frameshift 3:195868358-195868358 - SNU-C4 COSM4615708 c.1522_1523insC p.Q508fs*12 Insertion - Frameshift 3:195870134-195870135 - STC263 COSM5059604 c.1295C>T p.T432M Substitution - Missense 3:195872432-195872432 - HCC16T COSM1617403 c.1022A>T p.H341L Substitution - Missense 3:195878585-195878585 - CSCC-44-T COSM4563806 c.801G>T p.K267N Substitution - Missense 3:195882137-195882137 - CSCC-10-T COSM4481056 c.2246C>T p.P749L Substitution - Missense 3:195868007-195868007 - TCGA-BT-A2LA-01 COSM233619 c.1349C>T p.S450L Substitution - Missense 3:195872378-195872378 - TCGA-AA-3821-01 COSM294900 c.100C>T p.R34C Substitution - Missense 3:195888489-195888489 - Pat_70_B COSM4734960 c.1895delC p.P632fs*84 Deletion - Frameshift 3:195868358-195868358 - PTC-70C COSM3759995 c.1719C>T p.F573F Substitution - coding silent 3:195868534-195868534 - CSCC-18-T COSM4511321 c.675C>T p.L225L Substitution - coding silent 3:195882263-195882263 - TCGA-AZ-6601-01 COSM5142724 c.1879C>T p.R627C Substitution - Missense 3:195868374-195868374 - DF01 COSM5759438 c.2141G>C p.C714S Substitution - Missense 3:195868112-195868112 - CSCC-31-T COSM4542430 c.3042G>A p.E1014E Substitution - coding silent 3:195866957-195866957 - 722_T COSM3945343 c.400G>C p.D134H Substitution - Missense 3:195884868-195884868 - HCC2998 COSM2947050 c.1387A>G p.I463V Substitution - Missense 3:195872340-195872340 - 8036161 COSM3392301 c.1551C>T p.T517T Substitution - coding silent 3:195868702-195868702 - AOCS-155-3-5 COSM4149786 c.1144C>G p.R382G Substitution - Missense 3:195878463-195878463 - D28 COSM5545987 c.2393C>T p.P798L Substitution - Missense 3:195867860-195867860 - E7 COSM1666318 c.457-8C>G p.? Unknown 3:195883317-195883317 - TCGA-EK-A2R7-01 COSM4852274 c.2590G>A p.E864K Substitution - Missense 3:195867663-195867663 - 2557_PT COSM5756243 c.1510T>C p.S504P Substitution - Missense 3:195870147-195870147 - TCGA-EB-A44O-01 COSM1593574 c.978C>T p.Y326Y Substitution - coding silent 3:195879085-195879085 - 8036161 COSM3392300 c.1551C>T p.T517T Substitution - coding silent 3:195868702-195868702 - 587220 COSM1229921 c.1970C>T p.A657V Substitution - Missense 3:195868283-195868283 - TCGA-EB-A44O-01 COSM1042981 c.978C>T p.Y326Y Substitution - coding silent 3:195879085-195879085 - TCGA-A6-6781-01 COSM4611446 c.2282delC p.P761fs*72 Deletion - Frameshift 3:195867971-195867971 - PTC-28C COSM4157925 c.2646C>T p.P882P Substitution - coding silent 3:195867607-195867607 - LS411 COSM2947130 c.73C>T p.R25W Substitution - Missense 3:195888516-195888516 - PTC-28C COSM4157927 c.2645C>T p.P882L Substitution - Missense 3:195867608-195867608 - TCGA-HU-A4G8-01 COSM4116346 c.2252G>A p.R751H Substitution - Missense 3:195868001-195868001 - LS174T COSM4611448 c.1482delC p.D495fs*3 Deletion - Frameshift 3:195870175-195870175 - 49M COSM1308971 c.2997C>T p.F999F Substitution - coding silent 3:195867002-195867002 - TCGA-D9-A6EC-06 COSM4402408 c.2759A>G p.K920R Substitution - Missense 3:195867494-195867494 - PD9579a COSM5786017 c.2850C>T p.G950G Substitution - coding silent 3:195867403-195867403 - TCGA-08-0373-01 COSM1559626 c.2266C>T p.L756L Substitution - coding silent 3:195867987-195867987 - PD8969a COSM5802589 c.1090_1095delATGGTC p.M364_V365delMV Deletion - In frame 3:195878512-195878517 - TCGA-EB-A430-01 COSM3591791 c.2177C>T p.A726V Substitution - Missense 3:195868076-195868076 - S00941 COSM5663793 c.2589delC p.E864fs*107 Deletion - Frameshift 3:195867664-195867664 - TCGA-02-0068-01 COSM1559636 c.1719C>G p.F573L Substitution - Missense 3:195868534-195868534 - HCC168 COSM3660437 c.3068C>A p.A1023D Substitution - Missense 3:195866931-195866931 - TCGA-02-0043-01 COSM35791 c.250C>T p.R84* Substitution - Nonsense 3:195885018-195885018 - TCGA-GD-A2C5-01 COSM1308973 c.2423C>G p.S808* Substitution - Nonsense 3:195867830-195867830 - AOCS-155-3-5 COSM4149797 c.259G>T p.A87S Substitution - Missense 3:195885009-195885009 - 438 COSM4434313 c.333G>C p.E111D Substitution - Missense 3:195884935-195884935 - S02290 COSM5686702 c.716G>T p.G239V Substitution - Missense 3:195882222-195882222 - TCGA-02-0023-01 COSM1559629 c.2225G>T p.R742L Substitution - Missense 3:195868028-195868028 - PTC-28C COSM4157924 c.2646C>T p.P882P Substitution - coding silent 3:195867607-195867607 - TCGA-EB-A553-01 COSM3591794 c.1836G>T p.L612L Substitution - coding silent 3:195868417-195868417 - YUHEF COSM1685943 c.635C>T p.S212L Substitution - Missense 3:195882303-195882303 - CSCC-40-T COSM4571978 c.416T>C p.V139A Substitution - Missense 3:195884852-195884852 - TCGA-EE-A3AB-06 COSM3591788 c.2355C>T p.S785S Substitution - coding silent 3:195867898-195867898 - HCT-15 COSM1683620 c.1544-1_1544insAACC p.Y518fs*3 Unknown 3:195868709-195868710 - sysucc-1317T COSM5449846 c.823C>T p.R275* Substitution - Nonsense 3:195882115-195882115 - TCGA-66-2759-01 COSM730554 c.1164C>T p.A388A Substitution - coding silent 3:195878345-195878345 - BON-1 COSM5368382 c.229A>T p.S77C Substitution - Missense 3:195886982-195886982 - CHC313T COSM4793513 c.1464A>G p.G488G Substitution - coding silent 3:195870193-195870193 - TCGA-19-1790-01 COSM3408543 c.360C>G p.L120L Substitution - coding silent 3:195884908-195884908 - T3118 COSM1421942 c.2491delC p.Q831fs*2 Deletion - Frameshift 3:195867762-195867762 - CSCC-38-T COSM4565742 c.2236_2237CC>TT p.P746F Substitution - Missense 3:195868016-195868017 - pfg054T COSM4764244 c.1227G>A p.M409I Substitution - Missense 3:195878282-195878282 - 2250191 COSM5030011 c.2851G>A p.D951N Substitution - Missense 3:195867402-195867402 - T3298 COSM4734979 c.751C>T p.R251C Substitution - Missense 3:195882187-195882187 - TCGA-GD-A3OP-01 COSM1308978 c.835C>T p.Q279* Substitution - Nonsense 3:195882103-195882103 - HCC58 COSM1617400 c.1798C>A p.L600M Substitution - Missense 3:195868455-195868455 - TCGA-EJ-7123-01 COSM3673924 c.2367G>T p.S789S Substitution - coding silent 3:195867886-195867886 - OSCC-GB_00630111 COSM4885132 c.1450G>A p.E484K Substitution - Missense 3:195872277-195872277 - PTC-70C COSM3759996 c.1719C>T p.F573F Substitution - coding silent 3:195868534-195868534 - I2L-P19Ta-Tumor-Organoid COSM1421942 c.2491delC p.Q831fs*2 Deletion - Frameshift 3:195867762-195867762 - LUAD-F00162 COSM366453 c.2918A>T p.E973V Substitution - Missense 3:195867233-195867233 - CCK81 COSM4611445 c.2282delC p.P761fs*72 Deletion - Frameshift 3:195867971-195867971 - PTC_435 COSM5957209 c.92A>T p.N31I Substitution - Missense 3:195888497-195888497 - SNU-C2B COSM2946906 c.2894C>G p.A965G Substitution - Missense 3:195867257-195867257 - AOCS-155-3-5 COSM4149793 c.293T>A p.F98Y Substitution - Missense 3:195884975-195884975 - 40M COSM4615709 c.1522_1523insC p.Q508fs*12 Insertion - Frameshift 3:195870134-195870135 - TCGA-AZ-6603-01 COSM3759996 c.1719C>T p.F573F Substitution - coding silent 3:195868534-195868534 - LC_C13 COSM1186484 c.1085A>G p.N362S Substitution - Missense 3:195878522-195878522 - HCC16 COSM1617402 c.1022A>T p.H341L Substitution - Missense 3:195878585-195878585 - TCGA-CK-4951-01 COSM5151729 c.1329G>A p.V443V Substitution - coding silent 3:195872398-195872398 - T16 COSM5344443 c.1473G>T p.M491I Substitution - Missense 3:195870184-195870184 - TCGA-08-0244-01 COSM1559642 c.1577A>G p.D526G Substitution - Missense 3:195868676-195868676 - I2L-P19Ta-Tumor-Organoid COSM1421941 c.2491delC p.Q831fs*2 Deletion - Frameshift 3:195867762-195867762 - CHC1756T COSM4804402 c.2784C>T p.S928S Substitution - coding silent 3:195867469-195867469 - TCGA-FT-A3EE-01 COSM3774838 c.1417C>G p.R473G Substitution - Missense 3:195872310-195872310 - CHEWS026 COSM4584200 c.579C>T p.Y193Y Substitution - coding silent 3:195883187-195883187 - TCGA-20-1683-01 COSM1327641 c.12G>A p.E4E Substitution - coding silent 3:195888577-195888577 - HCC086T COSM5813213 c.2611C>T p.R871C Substitution - Missense 3:195867642-195867642 - TCGA-AA-3672-01 COSM5102575 c.1013A>G p.Q338R Substitution - Missense 3:195879050-195879050 - TCGA-EB-A431-01 COSM3591785 c.2625C>T p.F875F Substitution - coding silent 3:195867628-195867628 - TCGA-EE-A182-06 COSM3591803 c.1124G>A p.R375K Substitution - Missense 3:195878483-195878483 - Au3 COSM4511322 c.675C>T p.L225L Substitution - coding silent 3:195882263-195882263 - TCGA-CW-6087-01 COSM1137009 c.2514G>A p.P838P Substitution - coding silent 3:195867739-195867739 - TCGA-FS-A4FC-06 COSM3591799 c.1334C>T p.S445F Substitution - Missense 3:195872393-195872393 - 587220 COSM1229923 c.439G>A p.A147T Substitution - Missense 3:195884829-195884829 - TCGA-08-0355-01 COSM1559624 c.2266C>A p.L756M Substitution - Missense 3:195867987-195867987 - T2940 COSM4734971 c.957A>G p.T319T Substitution - coding silent 3:195879106-195879106 - T207 COSM4734983 c.571C>T p.R191C Substitution - Missense 3:195883195-195883195 - ACINAR01 COSM233619 c.1349C>T p.S450L Substitution - Missense 3:195872378-195872378 - HCC58T COSM1617400 c.1798C>A p.L600M Substitution - Missense 3:195868455-195868455 - TCGA-AD-6964-01 COSM1421944 c.1522delC p.Q508fs*3 Deletion - Frameshift 3:195870135-195870135 - OSCC-GB_00630111 COSM4885133 c.1450G>A p.E484K Substitution - Missense 3:195872277-195872277 - TCGA-D5-6537-01 COSM1485036 c.2319T>C p.A773A Substitution - coding silent 3:195867934-195867934 - TCGA-08-0355-01 COSM1559623 c.2266C>A p.L756M Substitution - Missense 3:195867987-195867987 - TCGA-AP-A0LM-01 COSM1593575 c.2772C>A p.S924S Substitution - coding silent 3:195867481-195867481 - 990475 COSM1582576 c.94G>A p.V32I Substitution - Missense 3:195888495-195888495 - TCGA-MH-A562-01 COSM3992979 c.131A>G p.E44G Substitution - Missense 3:195888458-195888458 - PCSI_0090_Pa_X COSM3380501 c.1859C>A p.P620H Substitution - Missense 3:195868394-195868394 - EGC3 COSM5059610 c.379C>T p.R127C Substitution - Missense 3:195884889-195884889 - T3262 COSM4734957 c.1895_1896insC p.P633fs*4 Insertion - Frameshift 3:195868357-195868358 - TCGA-G4-6586-01 COSM1421947 c.1482_1483insC p.D495fs*25 Insertion - Frameshift 3:195870174-195870175 - S00936 COSM316047 c.1418G>A p.R473H Substitution - Missense 3:195872309-195872309 - TCGA-AP-A059-01 COSM1593577 c.3087C>T p.G1029G Substitution - coding silent 3:195866912-195866912 - T2269 COSM4734988 c.120C>T p.Y40Y Substitution - coding silent 3:195888469-195888469 - CSCC-10-T COSM4481055 c.2246C>T p.P749L Substitution - Missense 3:195868007-195868007 - TCGA-AD-6890-01 COSM5129946 c.2749T>C p.L917L Substitution - coding silent 3:195867504-195867504 - sysucc-1397T COSM5474594 c.1759C>T p.P587S Substitution - Missense 3:195868494-195868494 - TCGA-GD-A2C5-01 COSM1308974 c.2423C>G p.S808* Substitution - Nonsense 3:195867830-195867830 - TCGA-EK-A2RA-01 COSM4848323 c.880T>C p.F294L Substitution - Missense 3:195882058-195882058 - TCGA-AZ-4615-01 COSM3695992 c.326C>T p.A109V Substitution - Missense 3:195884942-195884942 - TCGA-A6-A565-01 COSM1421945 c.1522delC p.Q508fs*3 Deletion - Frameshift 3:195870135-195870135 - T207 COSM4734984 c.571C>T p.R191C Substitution - Missense 3:195883195-195883195 - T1154 COSM4734954 c.2100C>T p.S700S Substitution - coding silent 3:195868153-195868153 - TCGA-FS-A4FC-06 COSM3591800 c.1334C>T p.S445F Substitution - Missense 3:195872393-195872393 - 587228 COSM1229927 c.1493G>C p.S498T Substitution - Missense 3:195870164-195870164 - TCGA-EB-A553-01 COSM3591795 c.1836G>T p.L612L Substitution - coding silent 3:195868417-195868417 - REC-1 COSM1421950 c.898G>A p.E300K Substitution - Missense 3:195879165-195879165 - LC_C13 COSM1186485 c.1085A>G p.N362S Substitution - Missense 3:195878522-195878522 - TCGA-GF-A6C8-06 COSM3915646 c.975C>T p.T325T Substitution - coding silent 3:195879088-195879088 - T3174 COSM4734975 c.792C>T p.D264D Substitution - coding silent 3:195882146-195882146 - TCGA-EJ-5507-01 COSM1131500 c.652C>A p.R218S Substitution - Missense 3:195882286-195882286 - I2L-P19Ta-Tumor-Biopsy COSM1421941 c.2491delC p.Q831fs*2 Deletion - Frameshift 3:195867762-195867762 - HCC2998 COSM2947051 c.1387A>G p.I463V Substitution - Missense 3:195872340-195872340 - TCGA-02-0015-01 COSM42876 c.987G>A p.E329E Substitution - coding silent 3:195879076-195879076 - TCGA-HM-A3JK-01 COSM2947092 c.560G>A p.R187Q Substitution - Missense 3:195883206-195883206 - TCGA-EE-A29S-06 COSM1308975 c.1349C>T p.S450L Substitution - Missense 3:195872378-195872378 - ESO-859 COSM1240472 c.2037G>A p.P679P Substitution - coding silent 3:195868216-195868216 - 587220 COSM1229924 c.439G>A p.A147T Substitution - Missense 3:195884829-195884829 - YUHEF COSM1685942 c.635C>T p.S212L Substitution - Missense 3:195882303-195882303 - NCI-H2009 COSM12784 c.101G>T p.R34L Substitution - Missense 3:195888488-195888488 - TCGA-GD-A3OP-01 COSM1308977 c.835C>T p.Q279* Substitution - Nonsense 3:195882103-195882103 - CSCC-60-T COSM4544650 c.171G>A p.R57R Substitution - coding silent 3:195887040-195887040 - T3021 COSM1421950 c.898G>A p.E300K Substitution - Missense 3:195879165-195879165 - BD109T COSM5500602 c.1292G>T p.R431L Substitution - Missense 3:195872435-195872435 - CSCC-56-T COSM4485373 c.2926C>T p.Q976* Substitution - Nonsense 3:195867225-195867225 - CHC892T COSM4796148 c.2088G>A p.K696K Substitution - coding silent 3:195868165-195868165 - HCC086T COSM5813214 c.2611C>T p.R871C Substitution - Missense 3:195867642-195867642 - TCGA-AP-A0LM-01 COSM1042978 c.2772C>A p.S924S Substitution - coding silent 3:195867481-195867481 - CCK81 COSM2946921 c.2576A>C p.Y859S Substitution - Missense 3:195867677-195867677 - TCGA-EB-A3HV-01 COSM3591812 c.672C>T p.F224F Substitution - coding silent 3:195882266-195882266 - TCGA-19-1790-01 COSM3408544 c.360C>G p.L120L Substitution - coding silent 3:195884908-195884908 - TCGA-AD-6964-01 COSM1421945 c.1522delC p.Q508fs*3 Deletion - Frameshift 3:195870135-195870135 - LS411 COSM2947059 c.1156C>T p.L386L Substitution - coding silent 3:195878451-195878451 - T3118 COSM1421941 c.2491delC p.Q831fs*2 Deletion - Frameshift 3:195867762-195867762 - TCGA-G4-6309-01 COSM1421959 c.790G>A p.D264N Substitution - Missense 3:195882148-195882148 - ACINAR27 COSM1733766 c.2113G>A p.E705K Substitution - Missense 3:195868140-195868140 - YUOMEGA COSM5398951 c.2740C>T p.Q914* Substitution - Nonsense 3:195867513-195867513 - PD8969a COSM5802590 c.1090_1095delATGGTC p.M364_V365delMV Deletion - In frame 3:195878512-195878517 - BD109T COSM5500603 c.1292G>T p.R431L Substitution - Missense 3:195872435-195872435 - AOCS-128-1-0 COSM4149789 c.1055G>A p.R352Q Substitution - Missense 3:195878552-195878552 - PD0900a COSM20647 c.1036G>A p.E346K Substitution - Missense 3:195878571-195878571 - HCT116 COSM2947056 c.1178T>C p.M393T Substitution - Missense 3:195878331-195878331 - TCGA-DK-A1AF-01 COSM1308971 c.2997C>T p.F999F Substitution - coding silent 3:195867002-195867002 - TCGA-A5-A0GB-01 COSM1042984 c.824G>A p.R275Q Substitution - Missense 3:195882114-195882114 - HCC168T COSM3660437 c.3068C>A p.A1023D Substitution - Missense 3:195866931-195866931 - 2250191 COSM5030012 c.2851G>A p.D951N Substitution - Missense 3:195867402-195867402 - HCC58T COSM1617399 c.1798C>A p.L600M Substitution - Missense 3:195868455-195868455 - TCGA-A5-A0VP-01 COSM1593574 c.978C>T p.Y326Y Substitution - coding silent 3:195879085-195879085 - T16 COSM5344444 c.1473G>T p.M491I Substitution - Missense 3:195870184-195870184 - PD7207a COSM5779016 c.1054C>T p.R352W Substitution - Missense 3:195878553-195878553 - HCC16 COSM1617403 c.1022A>T p.H341L Substitution - Missense 3:195878585-195878585 - TCGA-EE-A2M5-06 COSM1685943 c.635C>T p.S212L Substitution - Missense 3:195882303-195882303 - ACINAR01 COSM1308975 c.1349C>T p.S450L Substitution - Missense 3:195872378-195872378 - CHC1725T COSM4800768 c.1900G>T p.A634S Substitution - Missense 3:195868353-195868353 - sysucc-1317T COSM1229921 c.1970C>T p.A657V Substitution - Missense 3:195868283-195868283 - PD1483a COSM20528 c.1227G>A p.M409I Substitution - Missense 3:195878282-195878282 - 990475 COSM1582575 c.94G>A p.V32I Substitution - Missense 3:195888495-195888495 - TCGA-AZ-6603-01 COSM3759995 c.1719C>T p.F573F Substitution - coding silent 3:195868534-195868534 - MBRep_T56 COSM4787403 c.1567G>T p.E523* Substitution - Nonsense 3:195868686-195868686 - TCGA-AA-3815-01 COSM1421951 c.898G>A p.E300K Substitution - Missense 3:195879165-195879165 - TCGA-CA-6718-01 COSM5145174 c.85G>T p.D29Y Substitution - Missense 3:195888504-195888504 - TCGA-02-0083-01 COSM1559633 c.1732G>T p.V578L Substitution - Missense 3:195868521-195868521 - CHC313T COSM4793512 c.1464A>G p.G488G Substitution - coding silent 3:195870193-195870193 - TCGA-EJ-7123-01 COSM3673925 c.2367G>T p.S789S Substitution - coding silent 3:195867886-195867886 - ESO-143 COSM1268226 c.2810C>T p.P937L Substitution - Missense 3:195867443-195867443 - TCGA-39-5016-01 COSM730556 c.1419C>T p.R473R Substitution - coding silent 3:195872308-195872308 - T3174 COSM4734976 c.792C>T p.D264D Substitution - coding silent 3:195882146-195882146 - CHOL44 COSM1744584 c.683C>T p.T228I Substitution - Missense 3:195882255-195882255 - TCGA-AM-5820-01 COSM3695988 c.2598A>G p.P866P Substitution - coding silent 3:195867655-195867655 - 722_T COSM3945344 c.400G>C p.D134H Substitution - Missense 3:195884868-195884868 - CHEWS026 COSM4584201 c.579C>T p.Y193Y Substitution - coding silent 3:195883187-195883187 - CHC892T COSM4796148 c.2088G>A p.K696K Substitution - coding silent 3:195868165-195868165 - CSCC-27-T COSM4455226 c.511A>T p.M171L Substitution - Missense 3:195883255-195883255 - PTC-515C COSM446253 c.2070G>A p.P690P Substitution - coding silent 3:195868183-195868183 - T3298 COSM4734980 c.751C>T p.R251C Substitution - Missense 3:195882187-195882187 - YUOMEGA COSM5398950 c.2740C>T p.Q914* Substitution - Nonsense 3:195867513-195867513 - ESO-143 COSM1268227 c.2810C>T p.P937L Substitution - Missense 3:195867443-195867443 - OSCC-GB_00590111 COSM4888696 c.865C>A p.H289N Substitution - Missense 3:195882073-195882073 - TCGA-G4-6586-01 COSM1421948 c.1482_1483insC p.D495fs*25 Insertion - Frameshift 3:195870174-195870175 - SC_9097 COSM1537367 c.3010C>T p.R1004W Substitution - Missense 3:195866989-195866989 - TCGA-EB-A3HV-01 COSM3591813 c.672C>T p.F224F Substitution - coding silent 3:195882266-195882266 - LS411 COSM2946997 c.1798C>T p.L600L Substitution - coding silent 3:195868455-195868455 - BD49T COSM5497749 c.1612C>T p.R538W Substitution - Missense 3:195868641-195868641 - T2269 COSM4734987 c.120C>T p.Y40Y Substitution - coding silent 3:195888469-195888469 - T3503 COSM4734950 c.2311G>T p.G771* Substitution - Nonsense 3:195867942-195867942 - RKO COSM4648693 c.1165C>A p.Q389K Substitution - Missense 3:195878344-195878344 - sysucc-1028T COSM5469027 c.811T>G p.F271V Substitution - Missense 3:195882127-195882127 - PD18024a COSM5777278 c.1206G>A p.P402P Substitution - coding silent 3:195878303-195878303 - S0024 COSM5883805 c.2203G>A p.D735N Substitution - Missense 3:195868050-195868050 - AOCS-155-3-5 COSM4149785 c.1144C>G p.R382G Substitution - Missense 3:195878463-195878463 - HCC16T COSM1617402 c.1022A>T p.H341L Substitution - Missense 3:195878585-195878585 - T3152 COSM4734960 c.1895delC p.P632fs*84 Deletion - Frameshift 3:195868358-195868358 - TCGA-MI-A75H-01 COSM4918278 c.632G>T p.G211V Substitution - Missense 3:195882306-195882306 - TCGA-02-0023-01 COSM1559630 c.2225G>T p.R742L Substitution - Missense 3:195868028-195868028 - TCGA-AZ-6598-01 COSM5141432 c.1180C>T p.R394W Substitution - Missense 3:195878329-195878329 - T2418 COSM4734966 c.1085delA p.N362fs*48 Deletion - Frameshift 3:195878522-195878522 - sysucc-1317T COSM5449845 c.823C>T p.R275* Substitution - Nonsense 3:195882115-195882115 - TCGA-60-2723-01 COSM1149708 c.1986G>T p.G662G Substitution - coding silent 3:195868267-195868267 - pfg143T COSM4650632 c.1769C>T p.A590V Substitution - Missense 3:195868484-195868484 - PTC_435 COSM5957210 c.92A>T p.N31I Substitution - Missense 3:195888497-195888497 - TCGA-MI-A75H-01 COSM4918279 c.632G>T p.G211V Substitution - Missense 3:195882306-195882306 - LS180 COSM4611448 c.1482delC p.D495fs*3 Deletion - Frameshift 3:195870175-195870175 - CHOL44 COSM1744583 c.683C>T p.T228I Substitution - Missense 3:195882255-195882255 - TCGA-G4-6309-01 COSM1421960 c.790G>A p.D264N Substitution - Missense 3:195882148-195882148 - NCI-H2009 COSM12784 c.101G>T p.R34L Substitution - Missense 3:195888488-195888488 - LIM2405 COSM4642760 c.287G>T p.S96I Substitution - Missense 3:195884981-195884981 - LP6005334-DNA_G01 COSM5034939 c.1808C>A p.T603N Substitution - Missense 3:195868445-195868445 - TCGA-EE-A3AE-06 COSM3591807 c.1108C>T p.H370Y Substitution - Missense 3:195878499-195878499 - BD49T COSM5497750 c.1612C>T p.R538W Substitution - Missense 3:195868641-195868641 - LS411 COSM2947129 c.73C>T p.R25W Substitution - Missense 3:195888516-195888516 - ZZUFHECRKL-G018T COSM5435435 c.915C>T p.R305R Substitution - coding silent 3:195879148-195879148 - CP50-MEL-B COSM21042 c.126G>A p.K42K Substitution - coding silent 3:195888463-195888463 - LC_S9 COSM1186487 c.914G>A p.R305H Substitution - Missense 3:195879149-195879149 - D28 COSM5545986 c.2393C>T p.P798L Substitution - Missense 3:195867860-195867860 - RK165_C01 COSM1633082 c.1301G>A p.C434Y Substitution - Missense 3:195872426-195872426 - TCGA-G4-6309-01 COSM1421956 c.852C>T p.Y284Y Substitution - coding silent 3:195882086-195882086 - TCGA-D7-A4YT-01 COSM4116341 c.2908G>A p.V970M Substitution - Missense 3:195867243-195867243 - T2418 COSM4734967 c.1085delA p.N362fs*48 Deletion - Frameshift 3:195878522-195878522 - TCGA-GF-A6C8-06 COSM3915647 c.975C>T p.T325T Substitution - coding silent 3:195879088-195879088 - PD18024a COSM5777277 c.1206G>A p.P402P Substitution - coding silent 3:195878303-195878303 - PCSI_0090_Pa_P COSM3380500 c.1859C>A p.P620H Substitution - Missense 3:195868394-195868394 - SNU-C2B COSM4651507 c.2798G>A p.R933Q Substitution - Missense 3:195867455-195867455 - TCGA-G4-6309-01 COSM1421957 c.852C>T p.Y284Y Substitution - coding silent 3:195882086-195882086 - EGC3 COSM5059609 c.379C>T p.R127C Substitution - Missense 3:195884889-195884889 - TCGA-AP-A059-01 COSM1042975 c.2819C>A p.T940N Substitution - Missense 3:195867434-195867434 - SNU-C4 COSM1421948 c.1482_1483insC p.D495fs*25 Insertion - Frameshift 3:195870174-195870175 - T92 COSM241968 c.1318C>T p.R440C Substitution - Missense 3:195872409-195872409 - WA16 COSM241970 c.1046G>A p.R349Q Substitution - Missense 3:195878561-195878561 - TCGA-A5-A0G5-01 COSM1154127 c.810C>G p.D270E Substitution - Missense 3:195882128-195882128 - TCGA-D9-A6EC-06 COSM4402407 c.2759A>G p.K920R Substitution - Missense 3:195867494-195867494 - TCGA-D7-A4YT-01 COSM4116340 c.2908G>A p.V970M Substitution - Missense 3:195867243-195867243 - REC-1 COSM1421951 c.898G>A p.E300K Substitution - Missense 3:195879165-195879165 - PD0900a COSM20647 c.1036G>A p.E346K Substitution - Missense 3:195878571-195878571 - NB-0997 COSM1288540 c.375C>T p.D125D Substitution - coding silent 3:195884893-195884893 - PD0880a COSM20645 c.296G>A p.R99Q Substitution - Missense 3:195884972-195884972 - RKO COSM1421944 c.1522delC p.Q508fs*3 Deletion - Frameshift 3:195870135-195870135 - PD9579a COSM5786018 c.2850C>T p.G950G Substitution - coding silent 3:195867403-195867403 - CHC313T COSM4793512 c.1464A>G p.G488G Substitution - coding silent 3:195870193-195870193 - SNU-175 COSM2947119 c.303C>A p.T101T Substitution - coding silent 3:195884965-195884965 - PD24216a COSM4734979 c.751C>T p.R251C Substitution - Missense 3:195882187-195882187 - TCGA-EK-A2R7-01 COSM4852275 c.2590G>A p.E864K Substitution - Missense 3:195867663-195867663 - TCGA-02-0043-01 COSM1559646 c.250C>T p.R84* Substitution - Nonsense 3:195885018-195885018 - T3610 COSM4734962 c.1291C>T p.R431W Substitution - Missense 3:195872436-195872436 - T3610 COSM4734963 c.1291C>T p.R431W Substitution - Missense 3:195872436-195872436 - sysucc-1370T COSM5471716 c.225G>T p.W75C Substitution - Missense 3:195886986-195886986 - TCGA-DK-A1A3-01 COSM1133690 c.144G>A p.K48K Substitution - coding silent 3:195888445-195888445 - H2009 COSM12784 c.101G>T p.R34L Substitution - Missense 3:195888488-195888488 - SNU-C2B COSM2946907 c.2894C>G p.A965G Substitution - Missense 3:195867257-195867257 - TCGA-HU-A4G8-01 COSM4116347 c.2252G>A p.R751H Substitution - Missense 3:195868001-195868001 - 16953 COSM48814 c.2251C>G p.R751G Substitution - Missense 3:195868002-195868002 - 2557_PT COSM5756244 c.1510T>C p.S504P Substitution - Missense 3:195870147-195870147 - AOCS-155-3-5 COSM4149794 c.293T>A p.F98Y Substitution - Missense 3:195884975-195884975 - TCGA-EE-A3JD-06 COSM4396288 c.1844C>T p.P615L Substitution - Missense 3:195868409-195868409 - PET118T COSM4963891 c.1307G>A p.G436E Substitution - Missense 3:195872420-195872420 - TCGA-DK-A1AF-01 COSM1308970 c.2997C>T p.F999F Substitution - coding silent 3:195867002-195867002 - TCGA-BR-4292-01 COSM4116351 c.2146A>G p.R716G Substitution - Missense 3:195868107-195868107 - CSCC-40-T COSM4571979 c.416T>C p.V139A Substitution - Missense 3:195884852-195884852 - CSCC-38-T COSM4565743 c.2236_2237CC>TT p.P746F Substitution - Missense 3:195868016-195868017 - CSCC-60-T COSM4544649 c.171G>A p.R57R Substitution - coding silent 3:195887040-195887040 - TCGA-G4-6628-01 COSM1421953 c.873G>T p.K291N Substitution - Missense 3:195882065-195882065 - TCGA-13-0761-01 COSM82422 c.297G>A p.R99R Substitution - coding silent 3:195884971-195884971 - MDS-08 COSM211523 c.92A>G p.N31S Substitution - Missense 3:195888497-195888497 - S0023 COSM5883805 c.2203G>A p.D735N Substitution - Missense 3:195868050-195868050 - TCGA-22-5473-01 COSM730550 c.296G>T p.R99L Substitution - Missense 3:195884972-195884972 - CSCC-31-T COSM4504825 c.486C>T p.P162P Substitution - coding silent 3:195883280-195883280 - TCGA-DD-A114-01 COSM4925460 c.1039G>T p.G347W Substitution - Missense 3:195878568-195878568 - TCGA-F5-6702-01 COSM1485036 c.2319T>C p.A773A Substitution - coding silent 3:195867934-195867934 - E7 COSM1666319 c.457-8C>G p.? Unknown 3:195883317-195883317 - TCGA-08-0350-01 COSM1559638 c.1611G>A p.L537L Substitution - coding silent 3:195868642-195868642 - TCGA-06-2565 COSM2153008 c.1395_1396delAG p.G466fs*5 Deletion - Frameshift 3:195872331-195872332 - CHC892T COSM4796147 c.2088G>A p.K696K Substitution - coding silent 3:195868165-195868165 - AOCS-128-1-0 COSM4149790 c.1055G>A p.R352Q Substitution - Missense 3:195878552-195878552 - SC_9097 COSM1537366 c.3010C>T p.R1004W Substitution - Missense 3:195866989-195866989 - PET118T COSM4963892 c.1307G>A p.G436E Substitution - Missense 3:195872420-195872420 - LAU50_2 COSM233619 c.1349C>T p.S450L Substitution - Missense 3:195872378-195872378 - TCGA-02-0015-01 COSM1559644 c.987G>A p.E329E Substitution - coding silent 3:195879076-195879076 - TCGA-66-2759-01 COSM1149710 c.1164C>T p.A388A Substitution - coding silent 3:195878345-195878345 - T86 COSM4734960 c.1895delC p.P632fs*84 Deletion - Frameshift 3:195868358-195868358 - PA285 COSM1163340 c.74G>A p.R25Q Substitution - Missense 3:195888515-195888515 - TCGA-DK-A1A3-01 COSM420068 c.144G>A p.K48K Substitution - coding silent 3:195888445-195888445 - T3152 COSM4734959 c.1895delC p.P632fs*84 Deletion - Frameshift 3:195868358-195868358 - TCGA-06-2565 COSM2153009 c.1395_1396delAG p.G466fs*5 Deletion - Frameshift 3:195872331-195872332 - TCGA-EE-A182-06 COSM3591804 c.1124G>A p.R375K Substitution - Missense 3:195878483-195878483 - TCGA-F5-6702-01 COSM1485035 c.2319T>C p.A773A Substitution - coding silent 3:195867934-195867934 - TCGA-EE-A3AB-06 COSM3591787 c.2355C>T p.S785S Substitution - coding silent 3:195867898-195867898 - PA285 COSM1163339 c.74G>A p.R25Q Substitution - Missense 3:195888515-195888515 - 394 COSM3723916 c.294C>T p.F98F Substitution - coding silent 3:195884974-195884974 - LIM2405 COSM4642761 c.287G>T p.S96I Substitution - Missense 3:195884981-195884981 - PCSI_0090_Pa_P COSM3380501 c.1859C>A p.P620H Substitution - Missense 3:195868394-195868394 - TCGA-Q1-A73P-01 COSM4825843 c.2091G>T p.P697P Substitution - coding silent 3:195868162-195868162 - BD57T COSM5509998 c.1720G>A p.G574S Substitution - Missense 3:195868533-195868533 - ESO-859 COSM1240471 c.2037G>A p.P679P Substitution - coding silent 3:195868216-195868216 - TCGA-AA-3663-01 COSM4611446 c.2282delC p.P761fs*72 Deletion - Frameshift 3:195867971-195867971 - TCGA-Q1-A73P-01 COSM4825842 c.2091G>T p.P697P Substitution - coding silent 3:195868162-195868162 - BD57T COSM5509999 c.1720G>A p.G574S Substitution - Missense 3:195868533-195868533 - sysucc-1370T COSM5471717 c.225G>T p.W75C Substitution - Missense 3:195886986-195886986 - TCGA-BR-A4PE-01 COSM4116357 c.1786G>A p.A596T Substitution - Missense 3:195868467-195868467 - 587256 COSM1229929 c.158G>A p.R53Q Substitution - Missense 3:195888431-195888431 - PD24216a COSM4734980 c.751C>T p.R251C Substitution - Missense 3:195882187-195882187 - CHC1725T COSM4800769 c.1900G>T p.A634S Substitution - Missense 3:195868353-195868353 - SW48 COSM2947110 c.380G>A p.R127H Substitution - Missense 3:195884888-195884888 - T3503 COSM4734951 c.2311G>T p.G771* Substitution - Nonsense 3:195867942-195867942 - TCGA-EE-A29L-06 COSM3591822 c.157C>T p.R53W Substitution - Missense 3:195888432-195888432 - ESCC_143 COSM4734959 c.1895delC p.P632fs*84 Deletion - Frameshift 3:195868358-195868358 - STC263 COSM5059605 c.1295C>T p.T432M Substitution - Missense 3:195872432-195872432 - S02290 COSM5686703 c.716G>T p.G239V Substitution - Missense 3:195882222-195882222 - HCC58 COSM1617399 c.1798C>A p.L600M Substitution - Missense 3:195868455-195868455 - TCGA-EE-A3J5-06 COSM3591781 c.2674C>T p.L892L Substitution - coding silent 3:195867579-195867579 - CHC1756T COSM4804401 c.2784C>T p.S928S Substitution - coding silent 3:195867469-195867469 - T86 COSM4734959 c.1895delC p.P632fs*84 Deletion - Frameshift 3:195868358-195868358 - TCGA-D5-6537-01 COSM1485035 c.2319T>C p.A773A Substitution - coding silent 3:195867934-195867934 - CCK81 COSM4611448 c.1482delC p.D495fs*3 Deletion - Frameshift 3:195870175-195870175 - CCK81 COSM4611446 c.2282delC p.P761fs*72 Deletion - Frameshift 3:195867971-195867971 - LS180 COSM4611449 c.1482delC p.D495fs*3 Deletion - Frameshift 3:195870175-195870175 - TCGA-HU-8602-01 COSM4116353 c.1984G>A p.G662R Substitution - Missense 3:195868269-195868269 - TCGA-UB-A7MB-01 COSM4931373 c.2961G>T p.Q987H Substitution - Missense 3:195867190-195867190 - TCGA-QG-A5YX-01 COSM5186359 c.2525C>T p.P842L Substitution - Missense 3:195867728-195867728 - I2L-P19Ta-Tumor-Biopsy COSM1421942 c.2491delC p.Q831fs*2 Deletion - Frameshift 3:195867762-195867762 - TCGA-A5-A0G5-01 COSM1042987 c.810C>G p.D270E Substitution - Missense 3:195882128-195882128 - TCGA-AM-5820-01 COSM3695987 c.2598A>G p.P866P Substitution - coding silent 3:195867655-195867655 - OSCC-GB_00590111 COSM4888695 c.865C>A p.H289N Substitution - Missense 3:195882073-195882073 - ESCC_79 COSM3591787 c.2355C>T p.S785S Substitution - coding silent 3:195867898-195867898 - TCGA-HM-A3JK-01 COSM2947091 c.560G>A p.R187Q Substitution - Missense 3:195883206-195883206 - SNU-283 COSM2946912 c.2629C>T p.R877C Substitution - Missense 3:195867624-195867624 - CHC1756T COSM4804401 c.2784C>T p.S928S Substitution - coding silent 3:195867469-195867469 - ITNET_0118_T COSM4963891 c.1307G>A p.G436E Substitution - Missense 3:195872420-195872420 - 447 COSM4435133 c.940T>A p.W314R Substitution - Missense 3:195879123-195879123 - LC_S9 COSM1186488 c.914G>A p.R305H Substitution - Missense 3:195879149-195879149 - NB-0997 COSM1288541 c.375C>T p.D125D Substitution - coding silent 3:195884893-195884893 - S00941 COSM5663794 c.2589delC p.E864fs*107 Deletion - Frameshift 3:195867664-195867664 - 438 COSM4434314 c.333G>C p.E111D Substitution - Missense 3:195884935-195884935 - RK165_C01 COSM1633083 c.1301G>A p.C434Y Substitution - Missense 3:195872426-195872426 - Au3 COSM4511321 c.675C>T p.L225L Substitution - coding silent 3:195882263-195882263 - CHC313T COSM4793513 c.1464A>G p.G488G Substitution - coding silent 3:195870193-195870193 - T3021 COSM1421951 c.898G>A p.E300K Substitution - Missense 3:195879165-195879165 - Pat_70_B COSM4734959 c.1895delC p.P632fs*84 Deletion - Frameshift 3:195868358-195868358 - RKO COSM4648694 c.1165C>A p.Q389K Substitution - Missense 3:195878344-195878344 - TCGA-60-2723-01 COSM730558 c.1986G>T p.G662G Substitution - coding silent 3:195868267-195868267 - pfg054T COSM20528 c.1227G>A p.M409I Substitution - Missense 3:195878282-195878282 - TCGA-08-0373-01 COSM1559627 c.2266C>T p.L756L Substitution - coding silent 3:195867987-195867987 - TCGA-UB-A7MB-01 COSM4931374 c.2961G>T p.Q987H Substitution - Missense 3:195867190-195867190 - CSCC-44-T COSM4565818 c.2338_2339CC>TT p.P780L Substitution - Missense 3:195867914-195867915 - TCGA-AP-A059-01 COSM1593576 c.2819C>A p.T940N Substitution - Missense 3:195867434-195867434 - TCGA-EB-A431-01 COSM3591784 c.2625C>T p.F875F Substitution - coding silent 3:195867628-195867628 - SNU-175 COSM4650632 c.1769C>T p.A590V Substitution - Missense 3:195868484-195868484 - LUAD-S01306 COSM343635 c.1876G>T p.A626S Substitution - Missense 3:195868377-195868377 - TCGA-BR-4292-01 COSM4116350 c.2146A>G p.R716G Substitution - Missense 3:195868107-195868107 - ACINAR27 COSM1733767 c.2113G>A p.E705K Substitution - Missense 3:195868140-195868140 - RKO COSM1421945 c.1522delC p.Q508fs*3 Deletion - Frameshift 3:195870135-195870135 - TCGA-CK-6746-01 COSM4611446 c.2282delC p.P761fs*72 Deletion - Frameshift 3:195867971-195867971 - 2521259 COSM5889969 c.1823C>T p.P608L Substitution - Missense 3:195868430-195868430 - EGC15 COSM1186487 c.914G>A p.R305H Substitution - Missense 3:195879149-195879149 - TCGA-06-0189-01 COSM35751 c.224G>A p.W75* Substitution - Nonsense 3:195886987-195886987 - TCGA-02-0083-01 COSM1559632 c.1732G>T p.V578L Substitution - Missense 3:195868521-195868521 - TCGA-EE-A29P-06 COSM3591818 c.599C>T p.P200L Substitution - Missense 3:195883167-195883167 - TCGA-F4-6856-01 COSM1421942 c.2491delC p.Q831fs*2 Deletion - Frameshift 3:195867762-195867762 - T3090 COSM1421941 c.2491delC p.Q831fs*2 Deletion - Frameshift 3:195867762-195867762 - TCGA-F4-6856-01 COSM1421941 c.2491delC p.Q831fs*2 Deletion - Frameshift 3:195867762-195867762 - TCGA-20-1683-01 COSM1327640 c.12G>A p.E4E Substitution - coding silent 3:195888577-195888577 - HCC168T COSM3660438 c.3068C>A p.A1023D Substitution - Missense 3:195866931-195866931 - HCC168 COSM3660438 c.3068C>A p.A1023D Substitution - Missense 3:195866931-195866931 - sysucc-1028T COSM5469028 c.811T>G p.F271V Substitution - Missense 3:195882127-195882127 - TCGA-FT-A3EE-01 COSM3774837 c.1417C>G p.R473G Substitution - Missense 3:195872310-195872310 - 587228 COSM1229926 c.1493G>C p.S498T Substitution - Missense 3:195870164-195870164 - ESCC_143 COSM4734960 c.1895delC p.P632fs*84 Deletion - Frameshift 3:195868358-195868358 - LP6005334-DNA_G01 COSM5034938 c.1808C>A p.T603N Substitution - Missense 3:195868445-195868445 - TCGA-EB-A430-01 COSM3591790 c.2177C>T p.A726V Substitution - Missense 3:195868076-195868076 - TCGA-EE-A29L-06 COSM3591821 c.157C>T p.R53W Substitution - Missense 3:195888432-195888432 - T3262 COSM4734956 c.1895_1896insC p.P633fs*4 Insertion - Frameshift 3:195868357-195868358 - LS411 COSM2946996 c.1798C>T p.L600L Substitution - coding silent 3:195868455-195868455 - TCGA-EE-A3AE-06 COSM3591808 c.1108C>T p.H370Y Substitution - Missense 3:195878499-195878499 - TCGA-AZ-4615-01 COSM3695991 c.326C>T p.A109V Substitution - Missense 3:195884942-195884942 - TCGA-BT-A2LA-01 COSM1308975 c.1349C>T p.S450L Substitution - Missense 3:195872378-195872378 - 40M COSM4615708 c.1522_1523insC p.Q508fs*12 Insertion - Frameshift 3:195870134-195870135 - TCGA-AA-3663-01 COSM4611445 c.2282delC p.P761fs*72 Deletion - Frameshift 3:195867971-195867971 - BON-1 COSM5368383 c.229A>T p.S77C Substitution - Missense 3:195886982-195886982 - ZZUFHECRKL-G018T COSM5435436 c.915C>T p.R305R Substitution - coding silent 3:195879148-195879148 - EGC3 COSM4734960 c.1895delC p.P632fs*84 Deletion - Frameshift 3:195868358-195868358 - CSCC-49-T COSM2947132 c.69C>T p.F23F Substitution - coding silent 3:195888520-195888520 - PTC-515C COSM1485040 c.2070G>A p.P690P Substitution - coding silent 3:195868183-195868183 - H2009 COSM1193852 c.101G>T p.R34L Substitution - Missense 3:195888488-195888488 - SNU-283 COSM2946913 c.2629C>T p.R877C Substitution - Missense 3:195867624-195867624 - PD7207a COSM5779015 c.1054C>T p.R352W Substitution - Missense 3:195878553-195878553 - HCT-15 COSM1683619 c.1544-1_1544insAACC p.Y518fs*3 Unknown 3:195868709-195868710 - TCGA-AZ-6601-01 COSM5142727 c.762T>C p.A254A Substitution - coding silent 3:195882176-195882176 - LS411 COSM2947060 c.1156C>T p.L386L Substitution - coding silent 3:195878451-195878451 - TCGA-BR-A4PE-01 COSM4116356 c.1786G>A p.A596T Substitution - Missense 3:195868467-195868467 - DF01 COSM5759437 c.2141G>C p.C714S Substitution - Missense 3:195868112-195868112 - PCSI_0090_Pa_X COSM3380500 c.1859C>A p.P620H Substitution - Missense 3:195868394-195868394 - TCGA-EE-A3JD-06 COSM4396287 c.1844C>T p.P615L Substitution - Missense 3:195868409-195868409 - ESCC_79 COSM3591788 c.2355C>T p.S785S Substitution - coding silent 3:195867898-195867898 - SW48 COSM2947109 c.380G>A p.R127H Substitution - Missense 3:195884888-195884888 - TCGA-06-0189-01 COSM1559648 c.224G>A p.W75* Substitution - Nonsense 3:195886987-195886987 - TCGA-A5-A0VP-01 COSM1042981 c.978C>T p.Y326Y Substitution - coding silent 3:195879085-195879085 - TCGA-DK-A3IK-01 COSM1308981 c.570C>T p.I190I Substitution - coding silent 3:195883196-195883196 - TCGA-06-0646-01 COSM1559629 c.2225G>T p.R742L Substitution - Missense 3:195868028-195868028 - T2940 COSM4734970 c.957A>G p.T319T Substitution - coding silent 3:195879106-195879106 - C058 COSM5525694 c.15G>A p.E5E Substitution - coding silent 3:195888574-195888574 - TCGA-BR-8372-01 COSM4116343 c.2702C>T p.A901V Substitution - Missense 3:195867551-195867551 - CHC1725T COSM4800769 c.1900G>T p.A634S Substitution - Missense 3:195868353-195868353 - CSCC-18-T COSM4511322 c.675C>T p.L225L Substitution - coding silent 3:195882263-195882263 - TCGA-02-0068-01 COSM1559635 c.1719C>G p.F573L Substitution - Missense 3:195868534-195868534 - T13 COSM5344440 c.2746G>T p.A916S Substitution - Missense 3:195867507-195867507 - HCT116 COSM2947057 c.1178T>C p.M393T Substitution - Missense 3:195878331-195878331 - CSCC-44-T COSM4565819 c.2338_2339CC>TT p.P780L Substitution - Missense 3:195867914-195867915 - CSCC-56-T COSM4485374 c.2926C>T p.Q976* Substitution - Nonsense 3:195867225-195867225 - SNU-C4 COSM4615709 c.1522_1523insC p.Q508fs*12 Insertion - Frameshift 3:195870134-195870135 - ORL-48 COSM4596889 c.2101G>T p.A701S Substitution - Missense 3:195868152-195868152 - TCGA-39-5016-01 COSM1149709 c.1419C>T p.R473R Substitution - coding silent 3:195872308-195872308 - ORL-48 COSM4596890 c.2101G>T p.A701S Substitution - Missense 3:195868152-195868152 - TCGA-AP-A059-01 COSM1042973 c.3087C>T p.G1029G Substitution - coding silent 3:195866912-195866912 - LUAD-RT-S01702 COSM379333 c.527G>A p.R176Q Substitution - Missense 3:195883239-195883239 - TCGA-MH-A562-01 COSM3992980 c.131A>G p.E44G Substitution - Missense 3:195888458-195888458 - TCGA-08-0244-01 COSM1559641 c.1577A>G p.D526G Substitution - Missense 3:195868676-195868676 - S0023 COSM5883806 c.2203G>A p.D735N Substitution - Missense 3:195868050-195868050 - C058 COSM5525695 c.15G>A p.E5E Substitution - coding silent 3:195888574-195888574 - 447 COSM4435134 c.940T>A p.W314R Substitution - Missense 3:195879123-195879123 - TCGA-06-0646-01 COSM1559630 c.2225G>T p.R742L Substitution - Missense 3:195868028-195868028 - CHC1725T COSM4800768 c.1900G>T p.A634S Substitution - Missense 3:195868353-195868353 - CSCC-27-T COSM4455227 c.511A>T p.M171L Substitution - Missense 3:195883255-195883255 - 49M COSM1308970 c.2997C>T p.F999F Substitution - coding silent 3:195867002-195867002 - TCGA-G4-6628-01 COSM1421954 c.873G>T p.K291N Substitution - Missense 3:195882065-195882065 - TCGA-22-5473-01 COSM1149712 c.296G>T p.R99L Substitution - Missense 3:195884972-195884972 - CSCC-31-T COSM4504824 c.486C>T p.P162P Substitution - coding silent 3:195883280-195883280 - T1154 COSM4734953 c.2100C>T p.S700S Substitution - coding silent 3:195868153-195868153 - CHC892T COSM4796147 c.2088G>A p.K696K Substitution - coding silent 3:195868165-195868165 - SNU-175 COSM2947118 c.303C>A p.T101T Substitution - coding silent 3:195884965-195884965 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.518513 3q29 606994

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - A IntronicInsertion . c.1732+97dupT 3 195596888 CM AT CC IntronicBlockSubstitution . c.1640+268_1640+269delinsGG 3 195598878 PIA A T Missense p.L27H c.80T>A 3 195622208 MB C A IntronicSNV . c.1777+91G>T 3 195596277 DLBCL C A Missense p.R162L c.485G>T 3 195611843 LUSC C A Missense p.R457L c.1370G>T 3 195605199 CM C A Missense p.S959I c.2876G>T 3 195594482 STAD C A Missense p.V218L c.652G>T 3 195610174 LUAD C A Nonsense p.E601* c.1801G>T 3 195595557 MB C A Synonymous p.G740G c.2220G>T 3 195595138 LUSC C G Missense p.E753Q c.2257G>C 3 195595101 HNSC CT - Frameshift p.G529Afs*5 c.1584_1585delAG 3 195599202 GBM C T Missense p.D722N c.2164G>A 3 195595194 BRCA C T Missense p.G396S c.1186G>A 3 195605937 BRCA C T Missense p.G772E c.2315G>A 3 195595043 BRCA C T Missense p.R338Q c.1013G>A 3 195608985 UCEC C T Missense p.R438K c.1313G>A 3 195605354 CM C T Missense p.R536H c.1607G>A 3 195599180 SCLC C T Synonymous p.K111K c.333G>A 3 195615316 BLCA C T Synonymous p.L336L c.1008G>A 3 195608990 HNSC C T Synonymous p.P757P c.2271G>A 3 195595087 ESCA C T Synonymous p.P916P c.2748G>A 3 195594610 RCCC C T Synonymous p.Q770Q c.2310G>A 3 195595048 CM C T Synonymous p.R162R c.486G>A 3 195611842 OV G A IntronicSNV . c.1077-96C>T 3 195606142 CM G A IntronicSNV . c.1778-9C>T 3 195595589 CM G A Missense p.A33V c.98C>T 3 195622190 DLBCL G A Missense p.H433Y c.1297C>T 3 195605370 CM G A Missense p.H527Y c.1579C>T 3 195599208 CM G A Missense p.P1015L c.3044C>T 3 195594314 ESCA G A Missense p.P263L c.788C>T 3 195610038 CM G A Missense p.P693L c.2078C>T 3 195595280 CM G A Missense p.P711L c.2132C>T 3 195595226 CM G A Missense p.P807S c.2419C>T 3 195594939 CM G A Missense p.R116W c.346C>T 3 195615303 CM G A Missense p.R820W c.2458C>T 3 195594900 BRCA G A Missense p.S275L c.824C>T 3 195609174 CM G A Missense p.S513L c.1538C>T 3 195599249 BLCA G A Missense p.S513L c.1538C>T 3 195599249 CM G A Missense p.S879F c.2636C>T 3 195594722 CM G A Missense p.T697M c.2090C>T 3 195595268 OV G A Nonsense p.Q342* c.1024C>T 3 195608974 BLCA G A Synonymous p.A451A c.1353C>T 3 195605216 LUSC G A Synonymous p.D188D c.564C>T 3 195611764 NB G A Synonymous p.F1047F c.3141C>T 3 195593873 BLCA G A Synonymous p.F287F c.861C>T 3 195609137 CM G A Synonymous p.F610F c.1830C>T 3 195595528 CM G A Synonymous p.I253I c.759C>T 3 195610067 BLCA G A Synonymous p.L1046L c.3138C>T 3 195593876 CM G A Synonymous p.L970L c.2908C>T 3 195594450 CM G A Synonymous p.P693P c.2079C>T 3 195595279 CM G A Synonymous p.R536R c.1608C>T 3 195599179 LUSC G A Synonymous p.S607S c.1821C>T 3 195595537 CM G A Synonymous p.S863S c.2589C>T 3 195594769 CM G A Synonymous p.Y389Y c.1167C>T 3 195605956 UCEC G C Missense p.D333E c.999C>G 3 195608999 UCEC G C Missense p.P709A c.2125C>G 3 195595233 HNSC G C Missense p.Q684E c.2050C>G 3 195595308 HNSC G C Missense p.R829G c.2485C>G 3 195594873 LUAD G C Missense p.T1003S c.3008C>G 3 195594350 HNSC G C Nonsense p.S886* c.2657C>G 3 195594701 BLCA G C Synonymous p.L183L c.549C>G 3 195611779 GBM - G Frameshift p.P711Afs*4 c.2129dupC 3 195595229 GBM - G Frameshift p.Q571Pfs*27 c.1711dupC 3 195597006 GBM G - Frameshift p.Q571Sfs*3 c.1711delC 3 195597006 THCA - G Frameshift p.R536Pfs*11 c.1606dupC 3 195599181 BLCA GT - IntronicDeletion . c.352+469_352+470delAC 3 195614827 CM T C Missense p.R794G c.2380A>G 3 195594978 STAD