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 17 9549360 9549360 + Silent SNP T T G TCGA-OR-A5J6-01A-31D-A29I-10 TCGA-OR-A5J6-10A-01D-A29L-10 g.chr17:9549360T>G c.411T>G c.(409-411)gcT>gcG p.A137A ACC 17 9631601 9631601 + Missense_Mutation SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr17:9631601G>T c.2666G>T c.(2665-2667)gGg>gTg p.G889V BLCA 17 9559744 9559744 + Nonsense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 g.chr17:9559744C>T c.529C>T c.(529-531)Cag>Tag p.Q177* BLCA 17 9580108 9580108 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 g.chr17:9580108C>T c.879C>T c.(877-879)ttC>ttT p.F293F BLCA 17 9590195 9590195 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr17:9590195G>A c.1322G>A c.(1321-1323)cGc>cAc p.R441H BLCA 17 9604544 9604544 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr17:9604544C>G c.1644C>G c.(1642-1644)ttC>ttG p.F548L BLCA 17 9631378 9631378 + Missense_Mutation SNP C C G TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr17:9631378C>G c.2443C>G c.(2443-2445)Ctg>Gtg p.L815V BLCA 17 9631585 9631585 + Missense_Mutation SNP G G C TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr17:9631585G>C c.2650G>C c.(2650-2652)Gaa>Caa p.E884Q BLCA 17 9631616 9631616 + Missense_Mutation SNP C C T TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr17:9631616C>T c.2681C>T c.(2680-2682)tCg>tTg p.S894L BLCA 17 9631804 9631804 + Nonsense_Mutation SNP G G T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 g.chr17:9631804G>T c.2869G>T c.(2869-2871)Gag>Tag p.E957* BLCA 17 9632212 9632212 + Missense_Mutation SNP C C T TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr17:9632212C>T c.3277C>T c.(3277-3279)Cca>Tca p.P1093S BRCA 17 9578277 9578277 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr17:9578277A>C c.810A>C c.(808-810)ctA>ctC p.L270L BRCA 17 9586235 9586236 + Frame_Shift_Del DEL CT CT - TCGA-B6-A0X1-01A-11D-A10G-09 TCGA-B6-A0X1-10A-01D-A117-09 g.chr17:9586235_9586236delCT c.1201_1202delCT c.(1201-1203)ctcfs p.L401fs BRCA 17 9604499 9604499 + Missense_Mutation SNP G G C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr17:9604499G>C c.1599G>C c.(1597-1599)caG>caC p.Q533H BRCA 17 9615433 9615433 + Silent SNP C C T TCGA-LL-A5YL-01A-12D-A29N-09 TCGA-LL-A5YL-10A-01D-A29N-09 g.chr17:9615433C>T c.2319C>T c.(2317-2319)ctC>ctT p.L773L BRCA 17 9631430 9631431 + Frame_Shift_Ins INS - - G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr17:9631430_9631431insG c.2495_2496insG c.(2494-2499)ttggtgfs p.V833fs BRCA 17 9631995 9631996 + Frame_Shift_Ins INS - - C TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr17:9631995_9631996insC c.3060_3061insC c.(3061-3063)cccfs p.P1021fs CESC 17 9549282 9549282 + Silent SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 g.chr17:9549282C>T c.333C>T c.(331-333)ttC>ttT p.F111F CESC 17 9583647 9583647 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 g.chr17:9583647C>G c.1069C>G c.(1069-1071)Caa>Gaa p.Q357E CESC 17 9590226 9590226 + Splice_Site SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 g.chr17:9590226G>T c.1353G>T c.(1351-1353)caG>caT p.Q451H CESC 17 9596527 9596527 + Silent SNP C C A TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 g.chr17:9596527C>A c.1437C>A c.(1435-1437)ctC>ctA p.L479L CESC 17 9603499 9603499 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr17:9603499C>T c.1468C>T c.(1468-1470)Ctc>Ttc p.L490F CESC 17 9604465 9604465 + Missense_Mutation SNP C C T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 g.chr17:9604465C>T c.1565C>T c.(1564-1566)gCg>gTg p.A522V CESC 17 9613288 9613288 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr17:9613288C>G c.2027C>G c.(2026-2028)tCt>tGt p.S676C CESC 17 9615324 9615324 + Missense_Mutation SNP G G A TCGA-EA-A5ZD-01A-11D-A28B-09 TCGA-EA-A5ZD-10A-01D-A28E-09 g.chr17:9615324G>A c.2210G>A c.(2209-2211)cGg>cAg p.R737Q CESC 17 9632113 9632113 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 g.chr17:9632113G>A c.3178G>A c.(3178-3180)Gag>Aag p.E1060K CESC 17 9632171 9632171 + Missense_Mutation SNP C C A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 g.chr17:9632171C>A c.3236C>A c.(3235-3237)gCc>gAc p.A1079D COAD 17 9559765 9559765 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr17:9559765C>T c.550C>T c.(550-552)Cac>Tac p.H184Y COAD 17 9559771 9559771 + Missense_Mutation SNP G G A TCGA-AA-3854-01A-01W-0900-09 TCGA-AA-3854-10A-01W-0900-09 g.chr17:9559771G>A c.556G>A c.(556-558)Gcc>Acc p.A186T COAD 17 9578225 9578225 + Missense_Mutation SNP C C A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr17:9578225C>A c.758C>A c.(757-759)cCc>cAc p.P253H COAD 17 9604818 9604818 + Silent SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr17:9604818G>A c.1812G>A c.(1810-1812)acG>acA p.T604T COAD 17 9613285 9613285 + Missense_Mutation SNP A A C TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr17:9613285A>C c.2024A>C c.(2023-2025)aAc>aCc p.N675T COAD 17 9613302 9613302 + Missense_Mutation SNP T T C TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr17:9613302T>C c.2041T>C c.(2041-2043)Tgg>Cgg p.W681R COAD 17 9615301 9615301 + Silent SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr17:9615301C>T c.2187C>T c.(2185-2187)tcC>tcT p.S729S COAD 17 9615323 9615323 + Missense_Mutation SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr17:9615323C>T c.2209C>T c.(2209-2211)Cgg>Tgg p.R737W COAD 17 9615327 9615328 + Frame_Shift_Ins INS - - C TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr17:9615327_9615328insC c.2213_2214insC c.(2212-2217)ctcgggfs p.G739fs COAD 17 9615367 9615367 + Silent SNP C C A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:9615367C>A c.2253C>A c.(2251-2253)tcC>tcA p.S751S COAD 17 9631289 9631289 + Missense_Mutation SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr17:9631289G>A c.2354G>A c.(2353-2355)cGt>cAt p.R785H COAD 17 9631302 9631302 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:9631302C>T c.2367C>T c.(2365-2367)ggC>ggT p.G789G COAD 17 9631996 9631996 + Frame_Shift_Del DEL C C - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:9631996delC c.3061delC c.(3061-3063)cccfs p.P1022fs COADREAD 17 9559765 9559765 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr17:9559765C>T c.550C>T c.(550-552)Cac>Tac p.H184Y COADREAD 17 9559771 9559771 + Missense_Mutation SNP G G A TCGA-AA-3854-01A-01W-0900-09 TCGA-AA-3854-10A-01W-0900-09 g.chr17:9559771G>A c.556G>A c.(556-558)Gcc>Acc p.A186T COADREAD 17 9578225 9578225 + Missense_Mutation SNP C C A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr17:9578225C>A c.758C>A c.(757-759)cCc>cAc p.P253H COADREAD 17 9604818 9604818 + Silent SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr17:9604818G>A c.1812G>A c.(1810-1812)acG>acA p.T604T COADREAD 17 9613285 9613285 + Missense_Mutation SNP A A C TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr17:9613285A>C c.2024A>C c.(2023-2025)aAc>aCc p.N675T COADREAD 17 9613302 9613302 + Missense_Mutation SNP T T C TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr17:9613302T>C c.2041T>C c.(2041-2043)Tgg>Cgg p.W681R COADREAD 17 9615301 9615301 + Silent SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr17:9615301C>T c.2187C>T c.(2185-2187)tcC>tcT p.S729S COADREAD 17 9615323 9615323 + Missense_Mutation SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr17:9615323C>T c.2209C>T c.(2209-2211)Cgg>Tgg p.R737W COADREAD 17 9615327 9615328 + Frame_Shift_Ins INS - - C TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr17:9615327_9615328insC c.2213_2214insC c.(2212-2217)ctcgggfs p.G739fs COADREAD 17 9615367 9615367 + Silent SNP C C A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:9615367C>A c.2253C>A c.(2251-2253)tcC>tcA p.S751S COADREAD 17 9631289 9631289 + Missense_Mutation SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr17:9631289G>A c.2354G>A c.(2353-2355)cGt>cAt p.R785H COADREAD 17 9631302 9631302 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:9631302C>T c.2367C>T c.(2365-2367)ggC>ggT p.G789G COADREAD 17 9631794 9631794 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:9631794G>T c.2859G>T c.(2857-2859)atG>atT p.M953I COADREAD 17 9631996 9631996 + Frame_Shift_Del DEL C C - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:9631996delC c.3061delC c.(3061-3063)cccfs p.P1022fs DLBC 17 9580092 9580092 + Missense_Mutation SNP C C G TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr17:9580092C>G c.863C>G c.(862-864)tCt>tGt p.S288C DLBC 17 9604775 9604775 + Missense_Mutation SNP A A G TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr17:9604775A>G c.1769A>G c.(1768-1770)aAa>aGa p.K590R ESCA 17 9549132 9549132 + Silent SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 g.chr17:9549132C>T c.183C>T c.(181-183)ttC>ttT p.F61F ESCA 17 9578207 9578207 + Splice_Site SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 g.chr17:9578207G>T c.e4-1 ESCA 17 9578294 9578294 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr17:9578294A>G c.827A>G c.(826-828)cAg>cGg p.Q276R ESCA 17 9631606 9631606 + Missense_Mutation SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 g.chr17:9631606C>T c.2671C>T c.(2671-2673)Ccc>Tcc p.P891S GBMLGG 17 9631874 9631874 + Missense_Mutation SNP A A T TCGA-HW-8321-01A-11D-2395-08 TCGA-HW-8321-10A-01D-2396-08 g.chr17:9631874A>T c.2939A>T c.(2938-2940)gAc>gTc p.D980V GBMLGG 17 9632095 9632095 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:9632095G>T c.3160G>T c.(3160-3162)Ggc>Tgc p.G1054C GBMLGG 17 9632155 9632155 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:9632155C>T c.3220C>T c.(3220-3222)Cgt>Tgt p.R1074C HNSC 17 9578275 9578275 + Silent SNP C C T TCGA-UP-A6WW-01A-12D-A34J-08 TCGA-UP-A6WW-10B-01D-A34M-08 g.chr17:9578275C>T c.808C>T c.(808-810)Cta>Tta p.L270L HNSC 17 9631546 9631546 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr17:9631546G>A c.2611G>A c.(2611-2613)Gcc>Acc p.A871T HNSC 17 9631694 9631694 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr17:9631694G>A c.2759G>A c.(2758-2760)gGg>gAg p.G920E HNSC 17 9631983 9631983 + Silent SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 g.chr17:9631983C>G c.3048C>G c.(3046-3048)gtC>gtG p.V1016V KIPAN 17 9559778 9559778 + Frame_Shift_Del DEL A A - TCGA-5P-A9KA-01A-11D-A42J-10 TCGA-5P-A9KA-10A-01D-A42M-10 g.chr17:9559778delA c.563delA c.(562-564)gaafs p.E188fs KIPAN 17 9559806 9559806 + Silent SNP A A G TCGA-B0-5077-01A-01D-1462-08 TCGA-B0-5077-11A-01D-1462-08 g.chr17:9559806A>G c.591A>G c.(589-591)gtA>gtG p.V197V KIPAN 17 9583621 9583621 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr17:9583621C>T c.1043C>T c.(1042-1044)gCa>gTa p.A348V KIPAN 17 9604523 9604523 + Silent SNP C C A TCGA-BP-4771-01A-01D-1366-10 TCGA-BP-4771-11A-01D-1367-10 g.chr17:9604523C>A c.1623C>A c.(1621-1623)acC>acA p.T541T KIPAN 17 9631817 9631817 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr17:9631817T>C c.2882T>C c.(2881-2883)aTg>aCg p.M961T KIPAN 17 9631914 9631916 + In_Frame_Del DEL GGG GGG - TCGA-AK-3425-01A-02D-1361-10 TCGA-AK-3425-10A-01D-1361-10 g.chr17:9631914_9631916delGGG c.2979_2981delGGG c.(2977-2982)cagggg>cag p.G994del KIRC 17 9559806 9559806 + Silent SNP A A G TCGA-B0-5077-01A-01D-1462-08 TCGA-B0-5077-11A-01D-1462-08 g.chr17:9559806A>G c.591A>G c.(589-591)gtA>gtG p.V197V KIRC 17 9583621 9583621 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr17:9583621C>T c.1043C>T c.(1042-1044)gCa>gTa p.A348V KIRC 17 9604523 9604523 + Silent SNP C C A TCGA-BP-4771-01A-01D-1366-10 TCGA-BP-4771-11A-01D-1367-10 g.chr17:9604523C>A c.1623C>A c.(1621-1623)acC>acA p.T541T KIRC 17 9631817 9631817 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr17:9631817T>C c.2882T>C c.(2881-2883)aTg>aCg p.M961T KIRC 17 9631914 9631916 + In_Frame_Del DEL GGG GGG - TCGA-AK-3425-01A-02D-1361-10 TCGA-AK-3425-10A-01D-1361-10 g.chr17:9631914_9631916delGGG c.2979_2981delGGG c.(2977-2982)cagggg>cag p.G994del KIRP 17 9559778 9559778 + Frame_Shift_Del DEL A A - TCGA-5P-A9KA-01A-11D-A42J-10 TCGA-5P-A9KA-10A-01D-A42M-10 g.chr17:9559778delA c.563delA c.(562-564)gaafs p.E188fs LGG 17 9631874 9631874 + Missense_Mutation SNP A A T TCGA-HW-8321-01A-11D-2395-08 TCGA-HW-8321-10A-01D-2396-08 g.chr17:9631874A>T c.2939A>T c.(2938-2940)gAc>gTc p.D980V LGG 17 9632095 9632095 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:9632095G>T c.3160G>T c.(3160-3162)Ggc>Tgc p.G1054C LGG 17 9632155 9632155 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:9632155C>T c.3220C>T c.(3220-3222)Cgt>Tgt p.R1074C LIHC 17 9586141 9586141 + Splice_Site SNP T T C TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr17:9586141T>C c.1107T>C c.(1105-1107)gcT>gcC p.A369A LIHC 17 9604706 9604706 + Missense_Mutation SNP A A T TCGA-DD-AADQ-01A-11D-A40R-10 TCGA-DD-AADQ-10A-01D-A40U-10 g.chr17:9604706A>T c.1700A>T c.(1699-1701)cAa>cTa p.Q567L LIHC 17 9604952 9604952 + Missense_Mutation SNP A A G TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr17:9604952A>G c.1946A>G c.(1945-1947)gAc>gGc p.D649G LUAD 17 9578299 9578299 + Splice_Site SNP A A T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 g.chr17:9578299A>T c.832A>T c.(832-834)Agg>Tgg p.R278W LUAD 17 9604539 9604539 + Nonsense_Mutation SNP C C T TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr17:9604539C>T c.1639C>T c.(1639-1641)Cag>Tag p.Q547* LUAD 17 9604947 9604947 + Silent SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr17:9604947G>T c.1941G>T c.(1939-1941)ccG>ccT p.P647P LUAD 17 9613293 9613293 + Missense_Mutation SNP G G A TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr17:9613293G>A c.2032G>A c.(2032-2034)Gat>Aat p.D678N LUAD 17 9613325 9613325 + Silent SNP G G C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 g.chr17:9613325G>C c.2064G>C c.(2062-2064)acG>acC p.T688T LUAD 17 9613391 9613391 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 g.chr17:9613391G>T c.2130G>T c.(2128-2130)cgG>cgT p.R710R LUAD 17 9631591 9631591 + Missense_Mutation SNP G G T TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr17:9631591G>T c.2656G>T c.(2656-2658)Ggt>Tgt p.G886C LUSC 17 9586219 9586219 + Missense_Mutation SNP G G C TCGA-66-2768-01A-01D-1522-08 TCGA-66-2768-11A-01D-1522-08 g.chr17:9586219G>C c.1185G>C c.(1183-1185)gaG>gaC p.E395D OV 17 9631299 9631299 + Silent SNP G G T TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 g.chr17:9631299G>T c.2364G>T c.(2362-2364)cgG>cgT p.R788R OV 17 9631331 9631331 + Missense_Mutation SNP C C T TCGA-29-1778-01A-01W-0639-09 TCGA-29-1778-10A-01W-0639-09 g.chr17:9631331C>T c.2396C>T c.(2395-2397)gCa>gTa p.A799V PAAD 17 9631500 9631500 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:9631500C>T c.2565C>T c.(2563-2565)ggC>ggT p.G855G PAAD 17 9631939 9631939 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 g.chr17:9631939G>A c.3004G>A c.(3004-3006)Gtg>Atg p.V1002M READ 17 9631794 9631794 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:9631794G>T c.2859G>T c.(2857-2859)atG>atT p.M953I SKCM 17 9580154 9580154 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr17:9580154C>T c.925C>T c.(925-927)Ctg>Ttg p.L309L SKCM 17 9583586 9583586 + Silent SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr17:9583586G>A c.1008G>A c.(1006-1008)cgG>cgA p.R336R SKCM 17 9583588 9583588 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr17:9583588C>T c.1010C>T c.(1009-1011)tCt>tTt p.S337F SKCM 17 9586206 9586206 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr17:9586206C>T c.1172C>T c.(1171-1173)tCt>tTt p.S391F SKCM 17 9590126 9590126 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 g.chr17:9590126C>T c.1253C>T c.(1252-1254)cCc>cTc p.P418L SKCM 17 9590140 9590140 + Missense_Mutation SNP G G A TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr17:9590140G>A c.1267G>A c.(1267-1269)Gaa>Aaa p.E423K SKCM 17 9613338 9613338 + Nonsense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr17:9613338C>T c.2077C>T c.(2077-2079)Cga>Tga p.R693* SKCM 17 9615323 9615323 + Missense_Mutation SNP C C T TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr17:9615323C>T c.2209C>T c.(2209-2211)Cgg>Tgg p.R737W SKCM 17 9615392 9615392 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr17:9615392C>T c.2278C>T c.(2278-2280)Ctg>Ttg p.L760L SKCM 17 9631342 9631342 + Missense_Mutation SNP T T C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 g.chr17:9631342T>C c.2407T>C c.(2407-2409)Tcc>Ccc p.S803P SKCM 17 9631343 9631343 + Missense_Mutation SNP C C T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 g.chr17:9631343C>T c.2408C>T c.(2407-2409)tCc>tTc p.S803F SKCM 17 9631771 9631771 + Nonsense_Mutation SNP C C T TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr17:9631771C>T c.2836C>T c.(2836-2838)Cga>Tga p.R946* SKCM 17 9631820 9631820 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr17:9631820G>A c.2885G>A c.(2884-2886)gGa>gAa p.G962E SKCM 17 9631945 9631945 + Missense_Mutation SNP C C T TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr17:9631945C>T c.3010C>T c.(3010-3012)Cgg>Tgg p.R1004W SKCM 17 9631945 9631945 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr17:9631945C>T c.3010C>T c.(3010-3012)Cgg>Tgg p.R1004W SKCM 17 9632019 9632019 + Silent SNP C C G TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr17:9632019C>G c.3084C>G c.(3082-3084)ggC>ggG p.G1028G SKCM 17 9632076 9632076 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr17:9632076C>T c.3141C>T c.(3139-3141)atC>atT p.I1047I SKCM 17 9632212 9632212 + Missense_Mutation SNP C C T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr17:9632212C>T c.3277C>T c.(3277-3279)Cca>Tca p.P1093S SKCM 17 9632217 9632217 + Silent SNP G G A TCGA-FS-A4FD-06A-11D-A25O-08 TCGA-FS-A4FD-10B-01D-A25O-08 g.chr17:9632217G>A c.3282G>A c.(3280-3282)ggG>ggA p.G1094G SKCM 17 9632244 9632244 + Silent SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr17:9632244G>A c.3309G>A c.(3307-3309)caG>caA p.Q1103Q SKCM 17 9632267 9632267 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 g.chr17:9632267C>T c.3332C>T c.(3331-3333)tCt>tTt p.S1111F

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 17 9545099 9545099 single base substitution C T upstream_gene_variant BLCA-US 17 9559744 9559744 single base substitution C T exon_variant BLCA-US 17 9559744 9559744 single base substitution C T stop_gained Q177* 529C>T BLCA-US 17 9559744 9559744 single base substitution C T upstream_gene_variant BLCA-US 17 9580108 9580108 single base substitution C T exon_variant BLCA-US 17 9580108 9580108 single base substitution C T synonymous_variant F293F 879C>T BLCA-US 17 9580108 9580108 single base substitution C T synonymous_variant F79F 237C>T BLCA-US 17 9604544 9604544 single base substitution C G exon_variant BLCA-US 17 9604544 9604544 single base substitution C G missense_variant F334L 1002C>G BLCA-US 17 9604544 9604544 single base substitution C G missense_variant F548L 1644C>G BLCA-US 17 9604544 9604544 single base substitution C G missense_variant S38C 113C>G BLCA-US 17 9631804 9631804 single base substitution G T exon_variant BLCA-US 17 9631804 9631804 single base substitution G T stop_gained E482* 1444G>T BLCA-US 17 9631804 9631804 single base substitution G T stop_gained E743* 2227G>T BLCA-US 17 9631804 9631804 single base substitution G T stop_gained E952* 2854G>T BLCA-US 17 9631804 9631804 single base substitution G T stop_gained E957* 2869G>T BRCA-EU 17 9543546 9543546 single base substitution T A upstream_gene_variant BRCA-EU 17 9543759 9543759 single base substitution G A upstream_gene_variant BRCA-EU 17 9543793 9543796 deletion of <=200bp GTAA - upstream_gene_variant BRCA-EU 17 9544508 9544508 single base substitution C T upstream_gene_variant BRCA-EU 17 9546378 9546378 single base substitution G A upstream_gene_variant BRCA-EU 17 9548000 9548000 single base substitution T C upstream_gene_variant BRCA-EU 17 9548907 9548907 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 17 9548907 9548907 single base substitution C T intron_variant BRCA-EU 17 9549132 9549132 single base substitution C T intron_variant BRCA-EU 17 9549132 9549132 single base substitution C T synonymous_variant F61F 183C>T BRCA-EU 17 9552262 9552262 single base substitution C G intron_variant BRCA-EU 17 9552273 9552273 single base substitution T C intron_variant BRCA-EU 17 9552293 9552293 single base substitution T C intron_variant BRCA-EU 17 9552367 9552367 single base substitution G A intron_variant BRCA-EU 17 9553377 9553377 single base substitution C T intron_variant BRCA-EU 17 9553485 9553485 single base substitution C A intron_variant BRCA-EU 17 9553754 9553754 single base substitution C G intron_variant BRCA-EU 17 9555837 9555837 single base substitution T C intron_variant BRCA-EU 17 9555837 9555837 single base substitution T C upstream_gene_variant BRCA-EU 17 9557153 9557153 single base substitution T C intron_variant BRCA-EU 17 9557153 9557153 single base substitution T C upstream_gene_variant BRCA-EU 17 9557269 9557269 single base substitution A G intron_variant BRCA-EU 17 9557269 9557269 single base substitution A G upstream_gene_variant BRCA-EU 17 9557387 9557387 single base substitution G A intron_variant BRCA-EU 17 9557387 9557387 single base substitution G A upstream_gene_variant BRCA-EU 17 9558162 9558162 single base substitution C G intron_variant BRCA-EU 17 9558162 9558162 single base substitution C G upstream_gene_variant BRCA-EU 17 9558875 9558875 deletion of <=200bp G - intron_variant BRCA-EU 17 9558875 9558875 deletion of <=200bp G - upstream_gene_variant BRCA-EU 17 9558902 9558902 single base substitution G A intron_variant BRCA-EU 17 9558902 9558902 single base substitution G A upstream_gene_variant BRCA-EU 17 9560552 9560552 single base substitution G A intron_variant BRCA-EU 17 9562357 9562357 single base substitution A G intron_variant BRCA-EU 17 9563268 9563268 single base substitution T C intron_variant BRCA-EU 17 9564465 9564465 single base substitution C A intron_variant BRCA-EU 17 9564544 9564544 single base substitution A T intron_variant BRCA-EU 17 9564624 9564624 single base substitution T G intron_variant BRCA-EU 17 9565601 9565601 single base substitution G A intron_variant BRCA-EU 17 9566001 9566001 single base substitution T C intron_variant BRCA-EU 17 9566050 9566050 single base substitution C A intron_variant BRCA-EU 17 9567048 9567048 single base substitution C G intron_variant BRCA-EU 17 9570118 9570118 single base substitution C T intron_variant BRCA-EU 17 9570118 9570118 single base substitution C T upstream_gene_variant BRCA-EU 17 9570995 9570995 single base substitution C G intron_variant BRCA-EU 17 9570995 9570995 single base substitution C G upstream_gene_variant BRCA-EU 17 9571878 9571878 single base substitution C G intron_variant BRCA-EU 17 9571878 9571878 single base substitution C G upstream_gene_variant BRCA-EU 17 9572598 9572598 insertion of <=200bp - AG intron_variant BRCA-EU 17 9572598 9572598 insertion of <=200bp - AG upstream_gene_variant BRCA-EU 17 9573293 9573293 single base substitution A G intron_variant BRCA-EU 17 9574524 9574524 single base substitution C G intron_variant BRCA-EU 17 9575792 9575792 single base substitution A C intron_variant BRCA-EU 17 9576397 9576397 single base substitution T C intron_variant BRCA-EU 17 9577934 9577934 single base substitution G T intron_variant BRCA-EU 17 9579432 9579432 insertion of <=200bp - A intron_variant BRCA-EU 17 9579496 9579496 single base substitution T A intron_variant BRCA-EU 17 9579682 9579685 deletion of <=200bp TCTT - intron_variant BRCA-EU 17 9580104 9580104 single base substitution G A exon_variant BRCA-EU 17 9580104 9580104 single base substitution G A missense_variant R292Q 875G>A BRCA-EU 17 9580104 9580104 single base substitution G A missense_variant R78Q 233G>A BRCA-EU 17 9581653 9581653 single base substitution A T intron_variant BRCA-EU 17 9582040 9582040 deletion of <=200bp C - intron_variant BRCA-EU 17 9583884 9583884 single base substitution G T intron_variant BRCA-EU 17 9585311 9585311 single base substitution G C intron_variant BRCA-EU 17 9588151 9588151 single base substitution C G intron_variant BRCA-EU 17 9588219 9588219 single base substitution C T intron_variant BRCA-EU 17 9591321 9591321 single base substitution G C downstream_gene_variant BRCA-EU 17 9591321 9591321 single base substitution G C intron_variant BRCA-EU 17 9593787 9593787 single base substitution T C downstream_gene_variant BRCA-EU 17 9593787 9593787 single base substitution T C intron_variant BRCA-EU 17 9595687 9595687 single base substitution A G intron_variant BRCA-EU 17 9596569 9596569 single base substitution C T intron_variant BRCA-EU 17 9597536 9597536 single base substitution C T intron_variant BRCA-EU 17 9598182 9598182 single base substitution C G intron_variant BRCA-EU 17 9598198 9598198 single base substitution C T intron_variant BRCA-EU 17 9598200 9598200 single base substitution C T intron_variant BRCA-EU 17 9598899 9598899 single base substitution C A intron_variant BRCA-EU 17 9602226 9602226 single base substitution C T intron_variant BRCA-EU 17 9602226 9602226 single base substitution C T upstream_gene_variant BRCA-EU 17 9603192 9603192 single base substitution T G intron_variant BRCA-EU 17 9603192 9603192 single base substitution T G upstream_gene_variant BRCA-EU 17 9606328 9606328 single base substitution T A intron_variant BRCA-EU 17 9608910 9608910 deletion of <=200bp A - intron_variant BRCA-EU 17 9610942 9610942 single base substitution C T intron_variant BRCA-EU 17 9611606 9611606 single base substitution C T intron_variant BRCA-EU 17 9612246 9612246 insertion of <=200bp - T intron_variant BRCA-EU 17 9612345 9612345 single base substitution T A intron_variant BRCA-EU 17 9612798 9612798 single base substitution C T intron_variant BRCA-EU 17 9614600 9614600 single base substitution T G intron_variant BRCA-EU 17 9615123 9615123 single base substitution T C intron_variant BRCA-EU 17 9615619 9615619 single base substitution G A intron_variant BRCA-EU 17 9616427 9616427 single base substitution A G intron_variant BRCA-EU 17 9616959 9616959 single base substitution G T intron_variant BRCA-EU 17 9617641 9617641 single base substitution G C intron_variant BRCA-EU 17 9617891 9617891 single base substitution T C intron_variant BRCA-EU 17 9618714 9618714 single base substitution G A intron_variant BRCA-EU 17 9622224 9622224 deletion of <=200bp G - intron_variant BRCA-EU 17 9629765 9629765 single base substitution C T intron_variant BRCA-EU 17 9631529 9631529 single base substitution C T exon_variant BRCA-EU 17 9631529 9631529 single base substitution C T missense_variant S390L 1169C>T BRCA-EU 17 9631529 9631529 single base substitution C T missense_variant S651L 1952C>T BRCA-EU 17 9631529 9631529 single base substitution C T missense_variant S860L 2579C>T BRCA-EU 17 9631529 9631529 single base substitution C T missense_variant S865L 2594C>T BRCA-EU 17 9632428 9632428 single base substitution T A 3_prime_UTR_variant BRCA-EU 17 9632428 9632428 single base substitution T A downstream_gene_variant BRCA-EU 17 9635076 9635076 single base substitution C T downstream_gene_variant BRCA-EU 17 9636575 9636575 single base substitution T C downstream_gene_variant BRCA-EU 17 9637308 9637308 single base substitution C G downstream_gene_variant BRCA-FR 17 9543759 9543759 single base substitution G A upstream_gene_variant BRCA-FR 17 9548907 9548907 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 17 9548907 9548907 single base substitution C T intron_variant BRCA-FR 17 9549132 9549132 single base substitution C T intron_variant BRCA-FR 17 9549132 9549132 single base substitution C T synonymous_variant F61F 183C>T BRCA-FR 17 9553485 9553485 single base substitution C A intron_variant BRCA-FR 17 9557269 9557269 single base substitution A G intron_variant BRCA-FR 17 9557269 9557269 single base substitution A G upstream_gene_variant BRCA-FR 17 9563612 9563612 single base substitution C T intron_variant BRCA-FR 17 9585311 9585311 single base substitution G C intron_variant BRCA-FR 17 9588151 9588151 single base substitution C G intron_variant BRCA-FR 17 9607789 9607789 single base substitution C T intron_variant BRCA-FR 17 9629765 9629765 single base substitution C T intron_variant BRCA-UK 17 9545119 9545119 single base substitution G C upstream_gene_variant BRCA-UK 17 9554607 9554607 single base substitution C G intron_variant BRCA-UK 17 9569035 9569035 single base substitution C G intron_variant BRCA-UK 17 9569035 9569035 single base substitution C G upstream_gene_variant BRCA-UK 17 9570995 9570995 single base substitution C G intron_variant BRCA-UK 17 9570995 9570995 single base substitution C G upstream_gene_variant BRCA-UK 17 9577964 9577964 single base substitution C G intron_variant BRCA-UK 17 9629580 9629580 single base substitution C T intron_variant BRCA-UK 17 9632638 9632638 single base substitution T G 3_prime_UTR_variant BRCA-UK 17 9632638 9632638 single base substitution T G downstream_gene_variant BRCA-UK 17 9637308 9637308 single base substitution C G downstream_gene_variant BRCA-US 17 9578277 9578277 single base substitution A C exon_variant BRCA-US 17 9578277 9578277 single base substitution A C synonymous_variant L270L 810A>C BRCA-US 17 9578277 9578277 single base substitution A C synonymous_variant L56L 168A>C BRCA-US 17 9586235 9586236 deletion of <=200bp CT - exon_variant BRCA-US 17 9586235 9586236 deletion of <=200bp CT - frameshift_variant L187 BRCA-US 17 9586235 9586236 deletion of <=200bp CT - frameshift_variant L401 BRCA-US 17 9604499 9604499 single base substitution G C exon_variant BRCA-US 17 9604499 9604499 single base substitution G C missense_variant Q319H 957G>C BRCA-US 17 9604499 9604499 single base substitution G C missense_variant Q533H 1599G>C BRCA-US 17 9604499 9604499 single base substitution G C missense_variant R23T 68G>C BRCA-US 17 9615433 9615433 single base substitution C T exon_variant BRCA-US 17 9615433 9615433 single base substitution C T synonymous_variant L298L 894C>T BRCA-US 17 9615433 9615433 single base substitution C T synonymous_variant L559L 1677C>T BRCA-US 17 9615433 9615433 single base substitution C T synonymous_variant L768L 2304C>T BRCA-US 17 9615433 9615433 single base substitution C T synonymous_variant L773L 2319C>T BRCA-US 17 9631430 9631430 insertion of <=200bp - G exon_variant BRCA-US 17 9631430 9631430 insertion of <=200bp - G frameshift_variant L357C? BRCA-US 17 9631430 9631430 insertion of <=200bp - G frameshift_variant L618C? BRCA-US 17 9631430 9631430 insertion of <=200bp - G frameshift_variant L827C? BRCA-US 17 9631430 9631430 insertion of <=200bp - G frameshift_variant L832C? BRCA-US 17 9631995 9631995 insertion of <=200bp - C exon_variant BRCA-US 17 9631995 9631995 insertion of <=200bp - C frameshift_variant V1015V? BRCA-US 17 9631995 9631995 insertion of <=200bp - C frameshift_variant V1020V? BRCA-US 17 9631995 9631995 insertion of <=200bp - C frameshift_variant V545V? BRCA-US 17 9631995 9631995 insertion of <=200bp - C frameshift_variant V806V? BTCA-JP 17 9604921 9604921 single base substitution C T exon_variant BTCA-JP 17 9604921 9604921 single base substitution C T missense_variant P164S 490C>T BTCA-JP 17 9604921 9604921 single base substitution C T missense_variant P425S 1273C>T BTCA-JP 17 9604921 9604921 single base substitution C T missense_variant P639S 1915C>T BTCA-JP 17 9631675 9631675 deletion of <=200bp A - exon_variant BTCA-JP 17 9631675 9631675 deletion of <=200bp A - frameshift_variant K439 BTCA-JP 17 9631675 9631675 deletion of <=200bp A - frameshift_variant K700 BTCA-JP 17 9631675 9631675 deletion of <=200bp A - frameshift_variant K909 BTCA-JP 17 9631675 9631675 deletion of <=200bp A - frameshift_variant K914 BTCA-JP 17 9632439 9632439 single base substitution T G 3_prime_UTR_variant BTCA-JP 17 9632439 9632439 single base substitution T G downstream_gene_variant CESC-US 17 9549282 9549282 single base substitution C T intron_variant CESC-US 17 9549282 9549282 single base substitution C T synonymous_variant F111F 333C>T CESC-US 17 9583647 9583647 single base substitution C G exon_variant CESC-US 17 9583647 9583647 single base substitution C G missense_variant Q143E 427C>G CESC-US 17 9583647 9583647 single base substitution C G missense_variant Q357E 1069C>G CESC-US 17 9590226 9590226 single base substitution G T downstream_gene_variant CESC-US 17 9590226 9590226 single base substitution G T missense_variant Q237H 711G>T CESC-US 17 9590226 9590226 single base substitution G T missense_variant Q451H 1353G>T CESC-US 17 9590226 9590226 single base substitution G T splice_region_variant CESC-US 17 9596527 9596527 single base substitution C A exon_variant CESC-US 17 9596527 9596527 single base substitution C A synonymous_variant L265L 795C>A CESC-US 17 9596527 9596527 single base substitution C A synonymous_variant L479L 1437C>A CESC-US 17 9603499 9603499 single base substitution C T exon_variant CESC-US 17 9603499 9603499 single base substitution C T missense_variant L276F 826C>T CESC-US 17 9603499 9603499 single base substitution C T missense_variant L490F 1468C>T CESC-US 17 9603499 9603499 single base substitution C T upstream_gene_variant CESC-US 17 9604465 9604465 single base substitution C T exon_variant CESC-US 17 9604465 9604465 single base substitution C T missense_variant A308V 923C>T CESC-US 17 9604465 9604465 single base substitution C T missense_variant A522V 1565C>T CESC-US 17 9604465 9604465 single base substitution C T missense_variant R12C 34C>T CESC-US 17 9613288 9613288 single base substitution C G exon_variant CESC-US 17 9613288 9613288 single base substitution C G missense_variant S201C 602C>G CESC-US 17 9613288 9613288 single base substitution C G missense_variant S462C 1385C>G CESC-US 17 9613288 9613288 single base substitution C G missense_variant S671C 2012C>G CESC-US 17 9613288 9613288 single base substitution C G missense_variant S676C 2027C>G CESC-US 17 9615324 9615324 single base substitution G A exon_variant CESC-US 17 9615324 9615324 single base substitution G A missense_variant R262Q 785G>A CESC-US 17 9615324 9615324 single base substitution G A missense_variant R523Q 1568G>A CESC-US 17 9615324 9615324 single base substitution G A missense_variant R732Q 2195G>A CESC-US 17 9615324 9615324 single base substitution G A missense_variant R737Q 2210G>A CESC-US 17 9632113 9632113 single base substitution G A exon_variant CESC-US 17 9632113 9632113 single base substitution G A missense_variant E1055K 3163G>A CESC-US 17 9632113 9632113 single base substitution G A missense_variant E1060K 3178G>A CESC-US 17 9632113 9632113 single base substitution G A missense_variant E585K 1753G>A CESC-US 17 9632113 9632113 single base substitution G A missense_variant E846K 2536G>A CESC-US 17 9632171 9632171 single base substitution C A exon_variant CESC-US 17 9632171 9632171 single base substitution C A missense_variant A1074D 3221C>A CESC-US 17 9632171 9632171 single base substitution C A missense_variant A1079D 3236C>A CESC-US 17 9632171 9632171 single base substitution C A missense_variant A604D 1811C>A CESC-US 17 9632171 9632171 single base substitution C A missense_variant A865D 2594C>A CLLE-ES 17 9560954 9560954 single base substitution C T intron_variant CLLE-ES 17 9563231 9563231 single base substitution T C intron_variant CLLE-ES 17 9564722 9564722 single base substitution G A intron_variant CLLE-ES 17 9567915 9567915 single base substitution G C intron_variant CLLE-ES 17 9583778 9583778 single base substitution T G intron_variant CLLE-ES 17 9586818 9586821 deletion of <=200bp TTAT - intron_variant CLLE-ES 17 9598089 9598089 single base substitution C T intron_variant CLLE-ES 17 9603376 9603376 single base substitution G T intron_variant CLLE-ES 17 9603376 9603376 single base substitution G T upstream_gene_variant CLLE-ES 17 9611811 9611811 single base substitution G T intron_variant CLLE-ES 17 9616110 9616110 single base substitution G T intron_variant CLLE-ES 17 9618739 9618739 single base substitution C T intron_variant COAD-US 17 9549381 9549381 single base substitution C T intron_variant COAD-US 17 9549381 9549381 single base substitution C T synonymous_variant T144T 432C>T COAD-US 17 9559765 9559765 single base substitution C T exon_variant COAD-US 17 9559765 9559765 single base substitution C T missense_variant H184Y 550C>T COAD-US 17 9559765 9559765 single base substitution C T synonymous_variant S4S 12C>T COAD-US 17 9578225 9578225 single base substitution C A exon_variant COAD-US 17 9578225 9578225 single base substitution C A missense_variant P253H 758C>A COAD-US 17 9578225 9578225 single base substitution C A missense_variant P39H 116C>A COAD-US 17 9604922 9604922 single base substitution C T exon_variant COAD-US 17 9604922 9604922 single base substitution C T missense_variant P164L 491C>T COAD-US 17 9604922 9604922 single base substitution C T missense_variant P425L 1274C>T COAD-US 17 9604922 9604922 single base substitution C T missense_variant P639L 1916C>T COAD-US 17 9605017 9605017 single base substitution G T intron_variant COAD-US 17 9605017 9605017 single base substitution G T missense_variant A196S 586G>T COAD-US 17 9605017 9605017 single base substitution G T missense_variant A457S 1369G>T COAD-US 17 9605017 9605017 single base substitution G T missense_variant A671S 2011G>T COAD-US 17 9605017 9605017 single base substitution G T splice_region_variant COAD-US 17 9615301 9615301 single base substitution C T exon_variant COAD-US 17 9615301 9615301 single base substitution C T synonymous_variant S254S 762C>T COAD-US 17 9615301 9615301 single base substitution C T synonymous_variant S515S 1545C>T COAD-US 17 9615301 9615301 single base substitution C T synonymous_variant S724S 2172C>T COAD-US 17 9615301 9615301 single base substitution C T synonymous_variant S729S 2187C>T COAD-US 17 9615323 9615323 single base substitution C T exon_variant COAD-US 17 9615323 9615323 single base substitution C T missense_variant R262W 784C>T COAD-US 17 9615323 9615323 single base substitution C T missense_variant R523W 1567C>T COAD-US 17 9615323 9615323 single base substitution C T missense_variant R732W 2194C>T COAD-US 17 9615323 9615323 single base substitution C T missense_variant R737W 2209C>T COAD-US 17 9615367 9615367 single base substitution C A exon_variant COAD-US 17 9615367 9615367 single base substitution C A synonymous_variant S276S 828C>A COAD-US 17 9615367 9615367 single base substitution C A synonymous_variant S537S 1611C>A COAD-US 17 9615367 9615367 single base substitution C A synonymous_variant S746S 2238C>A COAD-US 17 9615367 9615367 single base substitution C A synonymous_variant S751S 2253C>A COAD-US 17 9631289 9631289 single base substitution G A exon_variant COAD-US 17 9631289 9631289 single base substitution G A missense_variant R310H 929G>A COAD-US 17 9631289 9631289 single base substitution G A missense_variant R571H 1712G>A COAD-US 17 9631289 9631289 single base substitution G A missense_variant R780H 2339G>A COAD-US 17 9631289 9631289 single base substitution G A missense_variant R785H 2354G>A COAD-US 17 9631302 9631302 single base substitution C T exon_variant COAD-US 17 9631302 9631302 single base substitution C T synonymous_variant G314G 942C>T COAD-US 17 9631302 9631302 single base substitution C T synonymous_variant G575G 1725C>T COAD-US 17 9631302 9631302 single base substitution C T synonymous_variant G784G 2352C>T COAD-US 17 9631302 9631302 single base substitution C T synonymous_variant G789G 2367C>T COAD-US 17 9631546 9631546 single base substitution G A exon_variant COAD-US 17 9631546 9631546 single base substitution G A missense_variant A396T 1186G>A COAD-US 17 9631546 9631546 single base substitution G A missense_variant A657T 1969G>A COAD-US 17 9631546 9631546 single base substitution G A missense_variant A866T 2596G>A COAD-US 17 9631546 9631546 single base substitution G A missense_variant A871T 2611G>A COAD-US 17 9631996 9631996 deletion of <=200bp C - exon_variant COAD-US 17 9631996 9631996 deletion of <=200bp C - frameshift_variant P1016 COAD-US 17 9631996 9631996 deletion of <=200bp C - frameshift_variant P1021 COAD-US 17 9631996 9631996 deletion of <=200bp C - frameshift_variant P546 COAD-US 17 9631996 9631996 deletion of <=200bp C - frameshift_variant P807 COAD-US 17 9632247 9632247 single base substitution A G exon_variant COAD-US 17 9632247 9632247 single base substitution A G synonymous_variant R1099R 3297A>G COAD-US 17 9632247 9632247 single base substitution A G synonymous_variant R1104R 3312A>G COAD-US 17 9632247 9632247 single base substitution A G synonymous_variant R629R 1887A>G COAD-US 17 9632247 9632247 single base substitution A G synonymous_variant R890R 2670A>G COCA-CN 17 9545080 9545080 single base substitution G T upstream_gene_variant COCA-CN 17 9546328 9546329 deletion of <=200bp TA - upstream_gene_variant COCA-CN 17 9590244 9590244 insertion of <=200bp - GT downstream_gene_variant COCA-CN 17 9590244 9590244 insertion of <=200bp - GT intron_variant COCA-CN 17 9631298 9631298 single base substitution G A exon_variant COCA-CN 17 9631298 9631298 single base substitution G A missense_variant R313Q 938G>A COCA-CN 17 9631298 9631298 single base substitution G A missense_variant R574Q 1721G>A COCA-CN 17 9631298 9631298 single base substitution G A missense_variant R783Q 2348G>A COCA-CN 17 9631298 9631298 single base substitution G A missense_variant R788Q 2363G>A COCA-CN 17 9631546 9631546 single base substitution G A exon_variant COCA-CN 17 9631546 9631546 single base substitution G A missense_variant A396T 1186G>A COCA-CN 17 9631546 9631546 single base substitution G A missense_variant A657T 1969G>A COCA-CN 17 9631546 9631546 single base substitution G A missense_variant A866T 2596G>A COCA-CN 17 9631546 9631546 single base substitution G A missense_variant A871T 2611G>A COCA-CN 17 9632332 9632332 single base substitution G T 3_prime_UTR_variant COCA-CN 17 9632332 9632332 single base substitution G T exon_variant COCA-CN 17 9635111 9635111 single base substitution G A downstream_gene_variant EOPC-DE 17 9545321 9545321 single base substitution C G upstream_gene_variant EOPC-DE 17 9556021 9556021 single base substitution A G intron_variant EOPC-DE 17 9556021 9556021 single base substitution A G upstream_gene_variant EOPC-DE 17 9580489 9580489 single base substitution G A intron_variant EOPC-DE 17 9631408 9631408 single base substitution C G exon_variant EOPC-DE 17 9631408 9631408 single base substitution C G missense_variant P350A 1048C>G EOPC-DE 17 9631408 9631408 single base substitution C G missense_variant P611A 1831C>G EOPC-DE 17 9631408 9631408 single base substitution C G missense_variant P820A 2458C>G EOPC-DE 17 9631408 9631408 single base substitution C G missense_variant P825A 2473C>G ESAD-UK 17 9543922 9543922 single base substitution G A upstream_gene_variant ESAD-UK 17 9544015 9544015 single base substitution A C upstream_gene_variant ESAD-UK 17 9544468 9544468 single base substitution G C upstream_gene_variant ESAD-UK 17 9546474 9546474 single base substitution G A upstream_gene_variant ESAD-UK 17 9550593 9550593 single base substitution T C intron_variant ESAD-UK 17 9553075 9553075 single base substitution T C intron_variant ESAD-UK 17 9553699 9553699 single base substitution A G intron_variant ESAD-UK 17 9559136 9559136 single base substitution A G intron_variant ESAD-UK 17 9559136 9559136 single base substitution A G upstream_gene_variant ESAD-UK 17 9560833 9560833 deletion of <=200bp A - intron_variant ESAD-UK 17 9561021 9561021 single base substitution G T intron_variant ESAD-UK 17 9564904 9564904 single base substitution G A intron_variant ESAD-UK 17 9565403 9565403 single base substitution G A intron_variant ESAD-UK 17 9567057 9567057 single base substitution C T intron_variant ESAD-UK 17 9569662 9569662 single base substitution C T intron_variant ESAD-UK 17 9569662 9569662 single base substitution C T upstream_gene_variant ESAD-UK 17 9569896 9569896 single base substitution G A intron_variant ESAD-UK 17 9569896 9569896 single base substitution G A upstream_gene_variant ESAD-UK 17 9570842 9570842 single base substitution T A intron_variant ESAD-UK 17 9570842 9570842 single base substitution T A upstream_gene_variant ESAD-UK 17 9571613 9571613 single base substitution C T intron_variant ESAD-UK 17 9571613 9571613 single base substitution C T upstream_gene_variant ESAD-UK 17 9572569 9572569 single base substitution G A intron_variant ESAD-UK 17 9572569 9572569 single base substitution G A upstream_gene_variant ESAD-UK 17 9576900 9576900 single base substitution G T intron_variant ESAD-UK 17 9577199 9577199 single base substitution C T intron_variant ESAD-UK 17 9577374 9577374 single base substitution G T intron_variant ESAD-UK 17 9577776 9577776 single base substitution T G intron_variant ESAD-UK 17 9578628 9578628 deletion of <=200bp T - intron_variant ESAD-UK 17 9582009 9582009 single base substitution T C intron_variant ESAD-UK 17 9582040 9582040 deletion of <=200bp C - intron_variant ESAD-UK 17 9584503 9584503 single base substitution T C intron_variant ESAD-UK 17 9585119 9585119 single base substitution C G intron_variant ESAD-UK 17 9585447 9585447 single base substitution C T intron_variant ESAD-UK 17 9588216 9588216 single base substitution G A intron_variant ESAD-UK 17 9589904 9589904 single base substitution G A intron_variant ESAD-UK 17 9590244 9590245 deletion of <=200bp GT - downstream_gene_variant ESAD-UK 17 9590244 9590245 deletion of <=200bp GT - intron_variant ESAD-UK 17 9590525 9590525 single base substitution A T downstream_gene_variant ESAD-UK 17 9590525 9590525 single base substitution A T intron_variant ESAD-UK 17 9593440 9593440 single base substitution C T downstream_gene_variant ESAD-UK 17 9593440 9593440 single base substitution C T intron_variant ESAD-UK 17 9594277 9594277 single base substitution C G downstream_gene_variant ESAD-UK 17 9594277 9594277 single base substitution C G intron_variant ESAD-UK 17 9594878 9594878 single base substitution C T downstream_gene_variant ESAD-UK 17 9594878 9594878 single base substitution C T intron_variant ESAD-UK 17 9597152 9597152 single base substitution C G intron_variant ESAD-UK 17 9598951 9598951 single base substitution A G intron_variant ESAD-UK 17 9599131 9599131 single base substitution A C intron_variant ESAD-UK 17 9599809 9599809 single base substitution A G intron_variant ESAD-UK 17 9599809 9599809 single base substitution A G upstream_gene_variant ESAD-UK 17 9600272 9600272 single base substitution G A intron_variant ESAD-UK 17 9600272 9600272 single base substitution G A upstream_gene_variant ESAD-UK 17 9600408 9600408 single base substitution C A intron_variant ESAD-UK 17 9600408 9600408 single base substitution C A upstream_gene_variant ESAD-UK 17 9600732 9600732 single base substitution C A intron_variant ESAD-UK 17 9600732 9600732 single base substitution C A upstream_gene_variant ESAD-UK 17 9601631 9601631 single base substitution A T intron_variant ESAD-UK 17 9601631 9601631 single base substitution A T upstream_gene_variant ESAD-UK 17 9602072 9602072 single base substitution C T intron_variant ESAD-UK 17 9602072 9602072 single base substitution C T upstream_gene_variant ESAD-UK 17 9604692 9604692 single base substitution G A exon_variant ESAD-UK 17 9604692 9604692 single base substitution G A synonymous_variant K348K 1044G>A ESAD-UK 17 9604692 9604692 single base substitution G A synonymous_variant K562K 1686G>A ESAD-UK 17 9604692 9604692 single base substitution G A synonymous_variant K87K 261G>A ESAD-UK 17 9608010 9608010 single base substitution A G intron_variant ESAD-UK 17 9608485 9608485 single base substitution C G intron_variant ESAD-UK 17 9611914 9611914 single base substitution G A intron_variant ESAD-UK 17 9613161 9613161 deletion of <=200bp T - intron_variant ESAD-UK 17 9615371 9615371 single base substitution A G exon_variant ESAD-UK 17 9615371 9615371 single base substitution A G missense_variant S278G 832A>G ESAD-UK 17 9615371 9615371 single base substitution A G missense_variant S539G 1615A>G ESAD-UK 17 9615371 9615371 single base substitution A G missense_variant S748G 2242A>G ESAD-UK 17 9615371 9615371 single base substitution A G missense_variant S753G 2257A>G ESAD-UK 17 9616103 9616106 deletion of <=200bp TTTG - intron_variant ESAD-UK 17 9616123 9616123 deletion of <=200bp T - intron_variant ESAD-UK 17 9616127 9616133 deletion of <=200bp TTTGTTA - intron_variant ESAD-UK 17 9616592 9616592 single base substitution G C intron_variant ESAD-UK 17 9616819 9616819 single base substitution C T intron_variant ESAD-UK 17 9617836 9617836 single base substitution A G intron_variant ESAD-UK 17 9618615 9618615 insertion of <=200bp - A intron_variant ESAD-UK 17 9621402 9621402 single base substitution C T intron_variant ESAD-UK 17 9622217 9622217 single base substitution A G intron_variant ESAD-UK 17 9622410 9622410 single base substitution G A intron_variant ESAD-UK 17 9623338 9623338 single base substitution C A intron_variant ESAD-UK 17 9623339 9623339 single base substitution G A intron_variant ESAD-UK 17 9624121 9624121 single base substitution C G intron_variant ESAD-UK 17 9625011 9625011 single base substitution A T intron_variant ESAD-UK 17 9625119 9625119 single base substitution C T intron_variant ESAD-UK 17 9625738 9625738 single base substitution C A intron_variant ESAD-UK 17 9625771 9625771 single base substitution C T intron_variant ESAD-UK 17 9626737 9626737 single base substitution G A intron_variant ESAD-UK 17 9628109 9628109 single base substitution C T intron_variant ESAD-UK 17 9630077 9630077 single base substitution T C intron_variant ESAD-UK 17 9631299 9631299 single base substitution G C exon_variant ESAD-UK 17 9631299 9631299 single base substitution G C synonymous_variant R313R 939G>C ESAD-UK 17 9631299 9631299 single base substitution G C synonymous_variant R574R 1722G>C ESAD-UK 17 9631299 9631299 single base substitution G C synonymous_variant R783R 2349G>C ESAD-UK 17 9631299 9631299 single base substitution G C synonymous_variant R788R 2364G>C ESAD-UK 17 9632936 9632936 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 17 9632936 9632936 deletion of <=200bp A - downstream_gene_variant ESAD-UK 17 9633138 9633138 single base substitution G A downstream_gene_variant ESAD-UK 17 9633216 9633216 single base substitution G A downstream_gene_variant ESAD-UK 17 9634960 9634960 single base substitution A G downstream_gene_variant ESCA-CN 17 9546550 9546551 deletion of <=200bp CG - upstream_gene_variant GBM-US 17 9546402 9546402 single base substitution G T upstream_gene_variant KIRC-US 17 9559806 9559806 single base substitution A G exon_variant KIRC-US 17 9559806 9559806 single base substitution A G missense_variant Y18C 53A>G KIRC-US 17 9559806 9559806 single base substitution A G synonymous_variant V197V 591A>G KIRC-US 17 9604523 9604523 single base substitution C A exon_variant KIRC-US 17 9604523 9604523 single base substitution C A missense_variant P31H 92C>A KIRC-US 17 9604523 9604523 single base substitution C A synonymous_variant T327T 981C>A KIRC-US 17 9604523 9604523 single base substitution C A synonymous_variant T541T 1623C>A KIRC-US 17 9631914 9631916 deletion of <=200bp GGG - exon_variant KIRC-US 17 9631914 9631916 deletion of <=200bp GGG - inframe_deletion QG518Q KIRC-US 17 9631914 9631916 deletion of <=200bp GGG - inframe_deletion QG779Q KIRC-US 17 9631914 9631916 deletion of <=200bp GGG - inframe_deletion QG988Q KIRC-US 17 9631914 9631916 deletion of <=200bp GGG - inframe_deletion QG993Q LAML-KR 17 9600999 9600999 single base substitution G T intron_variant LAML-KR 17 9600999 9600999 single base substitution G T upstream_gene_variant LAML-KR 17 9622338 9622338 single base substitution G A intron_variant LGG-US 17 9546373 9546373 single base substitution A G upstream_gene_variant LGG-US 17 9631874 9631874 single base substitution A T exon_variant LGG-US 17 9631874 9631874 single base substitution A T missense_variant D505V 1514A>T LGG-US 17 9631874 9631874 single base substitution A T missense_variant D766V 2297A>T LGG-US 17 9631874 9631874 single base substitution A T missense_variant D975V 2924A>T LGG-US 17 9631874 9631874 single base substitution A T missense_variant D980V 2939A>T LICA-CN 17 9604465 9604465 single base substitution C T exon_variant LICA-CN 17 9604465 9604465 single base substitution C T missense_variant A308V 923C>T LICA-CN 17 9604465 9604465 single base substitution C T missense_variant A522V 1565C>T LICA-CN 17 9604465 9604465 single base substitution C T missense_variant R12C 34C>T LICA-CN 17 9615336 9615336 single base substitution A T exon_variant LICA-CN 17 9615336 9615336 single base substitution A T missense_variant H266L 797A>T LICA-CN 17 9615336 9615336 single base substitution A T missense_variant H527L 1580A>T LICA-CN 17 9615336 9615336 single base substitution A T missense_variant H736L 2207A>T LICA-CN 17 9615336 9615336 single base substitution A T missense_variant H741L 2222A>T LICA-FR 17 9543542 9543542 deletion of <=200bp T - upstream_gene_variant LICA-FR 17 9552995 9552995 deletion of <=200bp A - intron_variant LICA-FR 17 9552995 9552996 deletion of <=200bp AA - intron_variant LICA-FR 17 9588406 9588406 single base substitution A C intron_variant LICA-FR 17 9588910 9588910 single base substitution G T intron_variant LICA-FR 17 9589177 9589177 single base substitution A G intron_variant LICA-FR 17 9595360 9595360 insertion of <=200bp - A intron_variant LICA-FR 17 9610150 9610150 single base substitution C T intron_variant LICA-FR 17 9615449 9615449 single base substitution G T splice_region_variant LICA-FR 17 9615449 9615449 single base substitution G T stop_gained G304* 910G>T LICA-FR 17 9615449 9615449 single base substitution G T stop_gained G565* 1693G>T LICA-FR 17 9615449 9615449 single base substitution G T stop_gained G774* 2320G>T LICA-FR 17 9615449 9615449 single base substitution G T stop_gained G779* 2335G>T LICA-FR 17 9618000 9618000 deletion of <=200bp A - intron_variant LINC-JP 17 9552750 9552750 single base substitution A G intron_variant LINC-JP 17 9562318 9562318 single base substitution A C intron_variant LINC-JP 17 9576269 9576269 single base substitution G A intron_variant LINC-JP 17 9576701 9576701 single base substitution C A intron_variant LINC-JP 17 9578310 9578310 single base substitution T C intron_variant LINC-JP 17 9586187 9586187 single base substitution G A exon_variant LINC-JP 17 9586187 9586187 single base substitution G A missense_variant G171S 511G>A LINC-JP 17 9586187 9586187 single base substitution G A missense_variant G385S 1153G>A LINC-JP 17 9603131 9603131 single base substitution A G intron_variant LINC-JP 17 9603131 9603131 single base substitution A G upstream_gene_variant LINC-JP 17 9609479 9609479 single base substitution A G intron_variant LINC-JP 17 9622218 9622222 deletion of <=200bp TGTTT - intron_variant LINC-JP 17 9631200 9631200 single base substitution G A intron_variant LINC-JP 17 9631743 9631743 single base substitution G T exon_variant LINC-JP 17 9631743 9631743 single base substitution G T missense_variant M461I 1383G>T LINC-JP 17 9631743 9631743 single base substitution G T missense_variant M722I 2166G>T LINC-JP 17 9631743 9631743 single base substitution G T missense_variant M931I 2793G>T LINC-JP 17 9631743 9631743 single base substitution G T missense_variant M936I 2808G>T LIRI-JP 17 9544960 9544960 single base substitution G T upstream_gene_variant LIRI-JP 17 9546020 9546020 single base substitution C T upstream_gene_variant LIRI-JP 17 9546211 9546211 single base substitution T A upstream_gene_variant LIRI-JP 17 9549571 9549571 single base substitution G A intron_variant LIRI-JP 17 9550023 9550023 single base substitution A G intron_variant LIRI-JP 17 9550595 9550595 single base substitution C T intron_variant LIRI-JP 17 9551576 9551576 single base substitution T A intron_variant LIRI-JP 17 9552950 9552950 single base substitution A T intron_variant LIRI-JP 17 9553703 9553703 single base substitution T A intron_variant LIRI-JP 17 9553736 9553736 single base substitution T A intron_variant LIRI-JP 17 9556215 9556215 single base substitution A T intron_variant LIRI-JP 17 9556215 9556215 single base substitution A T upstream_gene_variant LIRI-JP 17 9566015 9566015 single base substitution C T intron_variant LIRI-JP 17 9568866 9568866 single base substitution T A intron_variant LIRI-JP 17 9568866 9568866 single base substitution T A upstream_gene_variant LIRI-JP 17 9570402 9570402 single base substitution C G intron_variant LIRI-JP 17 9570402 9570402 single base substitution C G upstream_gene_variant LIRI-JP 17 9572653 9572653 single base substitution T A intron_variant LIRI-JP 17 9572653 9572653 single base substitution T A upstream_gene_variant LIRI-JP 17 9573106 9573106 single base substitution C A exon_variant LIRI-JP 17 9573106 9573106 single base substitution C A intron_variant LIRI-JP 17 9575533 9575533 single base substitution C T intron_variant LIRI-JP 17 9582074 9582074 single base substitution T G intron_variant LIRI-JP 17 9583473 9583473 single base substitution C A intron_variant LIRI-JP 17 9585885 9585885 single base substitution T G intron_variant LIRI-JP 17 9587495 9587495 single base substitution G T intron_variant LIRI-JP 17 9588142 9588142 single base substitution A C intron_variant LIRI-JP 17 9588284 9588284 single base substitution T A intron_variant LIRI-JP 17 9589417 9589417 single base substitution C G intron_variant LIRI-JP 17 9590406 9590406 insertion of <=200bp - T downstream_gene_variant LIRI-JP 17 9590406 9590406 insertion of <=200bp - T intron_variant LIRI-JP 17 9591874 9591874 single base substitution G A downstream_gene_variant LIRI-JP 17 9591874 9591874 single base substitution G A intron_variant LIRI-JP 17 9594423 9594423 single base substitution T C downstream_gene_variant LIRI-JP 17 9594423 9594423 single base substitution T C intron_variant LIRI-JP 17 9594637 9594637 single base substitution G A downstream_gene_variant LIRI-JP 17 9594637 9594637 single base substitution G A intron_variant LIRI-JP 17 9599020 9599020 single base substitution A G intron_variant LIRI-JP 17 9604024 9604024 single base substitution A G intron_variant LIRI-JP 17 9604024 9604024 single base substitution A G upstream_gene_variant LIRI-JP 17 9604077 9604077 single base substitution C A intron_variant LIRI-JP 17 9604077 9604077 single base substitution C A upstream_gene_variant LIRI-JP 17 9605003 9605003 single base substitution G C exon_variant LIRI-JP 17 9605003 9605003 single base substitution G C missense_variant G191A 572G>C LIRI-JP 17 9605003 9605003 single base substitution G C missense_variant G452A 1355G>C LIRI-JP 17 9605003 9605003 single base substitution G C missense_variant G666A 1997G>C LIRI-JP 17 9605003 9605003 single base substitution G C splice_donor_variant LIRI-JP 17 9608390 9608390 single base substitution C A intron_variant LIRI-JP 17 9608419 9608419 single base substitution C A intron_variant LIRI-JP 17 9610263 9610263 insertion of <=200bp - GATT intron_variant LIRI-JP 17 9610363 9610363 single base substitution A G intron_variant LIRI-JP 17 9610812 9610812 single base substitution C T intron_variant LIRI-JP 17 9622615 9622615 single base substitution A C intron_variant LIRI-JP 17 9624877 9624877 single base substitution A G intron_variant LIRI-JP 17 9625924 9625924 single base substitution A G intron_variant LIRI-JP 17 9626097 9626097 single base substitution G T intron_variant LIRI-JP 17 9637134 9637134 single base substitution T G downstream_gene_variant LUSC-KR 17 9547884 9547884 single base substitution A G upstream_gene_variant LUSC-KR 17 9551931 9551931 single base substitution C T intron_variant LUSC-KR 17 9560603 9560603 single base substitution C A intron_variant LUSC-KR 17 9568228 9568228 single base substitution A C intron_variant LUSC-KR 17 9568228 9568228 single base substitution A C upstream_gene_variant LUSC-KR 17 9583069 9583069 single base substitution C T intron_variant LUSC-KR 17 9585623 9585623 single base substitution G T intron_variant LUSC-KR 17 9587624 9587624 single base substitution A G intron_variant LUSC-KR 17 9587927 9587927 single base substitution A T intron_variant LUSC-KR 17 9589821 9589821 single base substitution G T intron_variant LUSC-KR 17 9590184 9590184 single base substitution C G downstream_gene_variant LUSC-KR 17 9590184 9590184 single base substitution C G exon_variant LUSC-KR 17 9590184 9590184 single base substitution C G synonymous_variant L223L 669C>G LUSC-KR 17 9590184 9590184 single base substitution C G synonymous_variant L437L 1311C>G LUSC-KR 17 9591741 9591741 single base substitution T C downstream_gene_variant LUSC-KR 17 9591741 9591741 single base substitution T C intron_variant LUSC-KR 17 9603579 9603579 single base substitution G A intron_variant LUSC-KR 17 9603579 9603579 single base substitution G A upstream_gene_variant LUSC-KR 17 9604623 9604623 single base substitution G T intron_variant LUSC-KR 17 9604623 9604623 single base substitution G T missense_variant W64C 192G>T LUSC-KR 17 9609999 9609999 single base substitution G C intron_variant LUSC-KR 17 9612179 9612179 single base substitution C T intron_variant LUSC-KR 17 9614156 9614156 single base substitution A G intron_variant LUSC-KR 17 9621023 9621023 single base substitution C G intron_variant LUSC-US 17 9586219 9586219 single base substitution G C exon_variant LUSC-US 17 9586219 9586219 single base substitution G C missense_variant E181D 543G>C LUSC-US 17 9586219 9586219 single base substitution G C missense_variant E395D 1185G>C MALY-DE 17 9549247 9549247 single base substitution G A intron_variant MALY-DE 17 9549247 9549247 single base substitution G A missense_variant A100T 298G>A MALY-DE 17 9554108 9554108 single base substitution A T intron_variant MALY-DE 17 9555547 9555547 single base substitution G A intron_variant MALY-DE 17 9555547 9555547 single base substitution G A upstream_gene_variant MALY-DE 17 9557998 9557998 single base substitution A T intron_variant MALY-DE 17 9557998 9557998 single base substitution A T upstream_gene_variant MALY-DE 17 9558587 9558587 single base substitution C T intron_variant MALY-DE 17 9558587 9558587 single base substitution C T upstream_gene_variant MALY-DE 17 9559767 9559767 single base substitution C T exon_variant MALY-DE 17 9559767 9559767 single base substitution C T missense_variant T5M 14C>T MALY-DE 17 9559767 9559767 single base substitution C T synonymous_variant H184H 552C>T MALY-DE 17 9561651 9561651 deletion of <=200bp T - intron_variant MALY-DE 17 9565654 9565654 single base substitution C T intron_variant MALY-DE 17 9570516 9570516 deletion of <=200bp A - intron_variant MALY-DE 17 9570516 9570516 deletion of <=200bp A - upstream_gene_variant MALY-DE 17 9570523 9570523 single base substitution A C intron_variant MALY-DE 17 9570523 9570523 single base substitution A C upstream_gene_variant MALY-DE 17 9571496 9571496 single base substitution C T intron_variant MALY-DE 17 9571496 9571496 single base substitution C T upstream_gene_variant MALY-DE 17 9571743 9571743 single base substitution A G intron_variant MALY-DE 17 9571743 9571743 single base substitution A G upstream_gene_variant MALY-DE 17 9574597 9574598 deletion of <=200bp GT - intron_variant MALY-DE 17 9593278 9593278 single base substitution C A downstream_gene_variant MALY-DE 17 9593278 9593278 single base substitution C A intron_variant MALY-DE 17 9594725 9594725 single base substitution G A downstream_gene_variant MALY-DE 17 9594725 9594725 single base substitution G A intron_variant MALY-DE 17 9600609 9600609 single base substitution T A intron_variant MALY-DE 17 9600609 9600609 single base substitution T A upstream_gene_variant MALY-DE 17 9600663 9600663 single base substitution T C intron_variant MALY-DE 17 9600663 9600663 single base substitution T C upstream_gene_variant MALY-DE 17 9611833 9611833 single base substitution C T intron_variant MALY-DE 17 9612246 9612246 deletion of <=200bp T - intron_variant MALY-DE 17 9613450 9613450 single base substitution G A intron_variant MALY-DE 17 9619039 9619040 deletion of <=200bp TG - intron_variant MALY-DE 17 9621511 9621511 single base substitution A G intron_variant MELA-AU 17 9543033 9543033 single base substitution G A upstream_gene_variant MELA-AU 17 9543062 9543062 single base substitution G A upstream_gene_variant MELA-AU 17 9543704 9543704 single base substitution C T upstream_gene_variant MELA-AU 17 9543725 9543725 single base substitution C T upstream_gene_variant MELA-AU 17 9543882 9543883 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 9544051 9544051 single base substitution C T upstream_gene_variant MELA-AU 17 9544946 9544946 single base substitution C A upstream_gene_variant MELA-AU 17 9545275 9545275 single base substitution C T upstream_gene_variant MELA-AU 17 9545716 9545716 single base substitution G A upstream_gene_variant MELA-AU 17 9546639 9546639 single base substitution C T upstream_gene_variant MELA-AU 17 9547070 9547070 single base substitution G A upstream_gene_variant MELA-AU 17 9547401 9547401 single base substitution G A upstream_gene_variant MELA-AU 17 9547935 9547935 single base substitution G A upstream_gene_variant MELA-AU 17 9548579 9548579 single base substitution C A exon_variant MELA-AU 17 9548579 9548579 single base substitution C A upstream_gene_variant MELA-AU 17 9549255 9549255 single base substitution C A intron_variant MELA-AU 17 9549255 9549255 single base substitution C A synonymous_variant G102G 306C>A MELA-AU 17 9550588 9550588 single base substitution C T intron_variant MELA-AU 17 9551034 9551034 single base substitution G A intron_variant MELA-AU 17 9551369 9551369 single base substitution C T intron_variant MELA-AU 17 9551644 9551644 single base substitution C T intron_variant MELA-AU 17 9552189 9552189 single base substitution C T intron_variant MELA-AU 17 9552255 9552255 single base substitution C T intron_variant MELA-AU 17 9553975 9553975 single base substitution C T intron_variant MELA-AU 17 9554371 9554371 single base substitution C T intron_variant MELA-AU 17 9554552 9554552 single base substitution C T intron_variant MELA-AU 17 9554582 9554582 single base substitution C T intron_variant MELA-AU 17 9555185 9555185 single base substitution A G intron_variant MELA-AU 17 9555185 9555185 single base substitution A G upstream_gene_variant MELA-AU 17 9555899 9555899 single base substitution C T intron_variant MELA-AU 17 9555899 9555899 single base substitution C T upstream_gene_variant MELA-AU 17 9556073 9556073 single base substitution G A intron_variant MELA-AU 17 9556073 9556073 single base substitution G A upstream_gene_variant MELA-AU 17 9556239 9556239 single base substitution A G intron_variant MELA-AU 17 9556239 9556239 single base substitution A G upstream_gene_variant MELA-AU 17 9556399 9556399 single base substitution C T intron_variant MELA-AU 17 9556399 9556399 single base substitution C T upstream_gene_variant MELA-AU 17 9556561 9556561 single base substitution C T intron_variant MELA-AU 17 9556561 9556561 single base substitution C T upstream_gene_variant MELA-AU 17 9556788 9556788 single base substitution C T intron_variant MELA-AU 17 9556788 9556788 single base substitution C T upstream_gene_variant MELA-AU 17 9556853 9556853 single base substitution C T intron_variant MELA-AU 17 9556853 9556853 single base substitution C T upstream_gene_variant MELA-AU 17 9557168 9557168 single base substitution C T intron_variant MELA-AU 17 9557168 9557168 single base substitution C T upstream_gene_variant MELA-AU 17 9557181 9557181 single base substitution C T intron_variant MELA-AU 17 9557181 9557181 single base substitution C T upstream_gene_variant MELA-AU 17 9557394 9557394 single base substitution C T intron_variant MELA-AU 17 9557394 9557394 single base substitution C T upstream_gene_variant MELA-AU 17 9557824 9557824 single base substitution G T intron_variant MELA-AU 17 9557824 9557824 single base substitution G T upstream_gene_variant MELA-AU 17 9558474 9558474 single base substitution C T intron_variant MELA-AU 17 9558474 9558474 single base substitution C T upstream_gene_variant MELA-AU 17 9558775 9558775 single base substitution C T intron_variant MELA-AU 17 9558775 9558775 single base substitution C T upstream_gene_variant MELA-AU 17 9558997 9558997 single base substitution G A intron_variant MELA-AU 17 9558997 9558997 single base substitution G A upstream_gene_variant MELA-AU 17 9559000 9559000 single base substitution G A intron_variant MELA-AU 17 9559000 9559000 single base substitution G A upstream_gene_variant MELA-AU 17 9559241 9559241 single base substitution G C intron_variant MELA-AU 17 9559241 9559241 single base substitution G C upstream_gene_variant MELA-AU 17 9559444 9559445 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 9559444 9559445 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 9559712 9559712 single base substitution C T splice_region_variant MELA-AU 17 9559712 9559712 single base substitution C T upstream_gene_variant MELA-AU 17 9559777 9559777 single base substitution G A exon_variant MELA-AU 17 9559777 9559777 single base substitution G A missense_variant E188K 562G>A MELA-AU 17 9559777 9559777 single base substitution G A stop_gained W8* 24G>A MELA-AU 17 9560173 9560173 single base substitution C T intron_variant MELA-AU 17 9560264 9560264 single base substitution C A intron_variant MELA-AU 17 9560266 9560266 single base substitution C T intron_variant MELA-AU 17 9560676 9560676 single base substitution G A intron_variant MELA-AU 17 9561026 9561026 single base substitution C T intron_variant MELA-AU 17 9561071 9561071 single base substitution C T intron_variant MELA-AU 17 9561086 9561086 single base substitution C T intron_variant MELA-AU 17 9561414 9561414 single base substitution A C intron_variant MELA-AU 17 9561456 9561456 single base substitution C T intron_variant MELA-AU 17 9561465 9561465 single base substitution C T intron_variant MELA-AU 17 9561521 9561521 single base substitution C T intron_variant MELA-AU 17 9561527 9561527 single base substitution C T intron_variant MELA-AU 17 9561800 9561800 deletion of <=200bp G - intron_variant MELA-AU 17 9562005 9562005 single base substitution C T intron_variant MELA-AU 17 9562248 9562248 single base substitution C T intron_variant MELA-AU 17 9562806 9562806 single base substitution C T intron_variant MELA-AU 17 9563427 9563427 deletion of <=200bp C - intron_variant MELA-AU 17 9563587 9563587 single base substitution C A intron_variant MELA-AU 17 9563688 9563688 single base substitution G A intron_variant MELA-AU 17 9564128 9564128 single base substitution T G intron_variant MELA-AU 17 9564270 9564270 single base substitution C T intron_variant MELA-AU 17 9564277 9564277 single base substitution G A intron_variant MELA-AU 17 9564292 9564292 single base substitution C T intron_variant MELA-AU 17 9564381 9564381 single base substitution A T intron_variant MELA-AU 17 9564594 9564594 single base substitution G A intron_variant MELA-AU 17 9565000 9565000 single base substitution C T intron_variant MELA-AU 17 9565644 9565644 single base substitution C T intron_variant MELA-AU 17 9565878 9565878 single base substitution C T intron_variant MELA-AU 17 9565912 9565912 single base substitution C T intron_variant MELA-AU 17 9565928 9565928 single base substitution C G intron_variant MELA-AU 17 9565939 9565939 single base substitution C T intron_variant MELA-AU 17 9566047 9566047 single base substitution C T intron_variant MELA-AU 17 9566242 9566242 single base substitution C T intron_variant MELA-AU 17 9566294 9566294 single base substitution C T intron_variant MELA-AU 17 9566499 9566499 single base substitution C T intron_variant MELA-AU 17 9566603 9566603 single base substitution G A intron_variant MELA-AU 17 9566709 9566709 single base substitution G A intron_variant MELA-AU 17 9567031 9567031 single base substitution C T intron_variant MELA-AU 17 9567060 9567060 single base substitution C T intron_variant MELA-AU 17 9567199 9567199 single base substitution C T intron_variant MELA-AU 17 9567388 9567388 single base substitution G A intron_variant MELA-AU 17 9567693 9567694 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 9567701 9567701 single base substitution C T intron_variant MELA-AU 17 9568142 9568143 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 9568142 9568143 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 9568152 9568152 single base substitution C T intron_variant MELA-AU 17 9568152 9568152 single base substitution C T upstream_gene_variant MELA-AU 17 9569041 9569041 single base substitution G A intron_variant MELA-AU 17 9569041 9569041 single base substitution G A upstream_gene_variant MELA-AU 17 9569087 9569087 single base substitution G A intron_variant MELA-AU 17 9569087 9569087 single base substitution G A upstream_gene_variant MELA-AU 17 9569224 9569224 single base substitution G A intron_variant MELA-AU 17 9569224 9569224 single base substitution G A upstream_gene_variant MELA-AU 17 9569664 9569664 single base substitution C T intron_variant MELA-AU 17 9569664 9569664 single base substitution C T upstream_gene_variant MELA-AU 17 9570008 9570008 single base substitution C T exon_variant MELA-AU 17 9570008 9570008 single base substitution C T intron_variant MELA-AU 17 9570008 9570008 single base substitution C T missense_variant P227L 680C>T MELA-AU 17 9570008 9570008 single base substitution C T upstream_gene_variant MELA-AU 17 9570123 9570123 single base substitution C T intron_variant MELA-AU 17 9570123 9570123 single base substitution C T upstream_gene_variant MELA-AU 17 9570262 9570262 single base substitution C T intron_variant MELA-AU 17 9570262 9570262 single base substitution C T upstream_gene_variant MELA-AU 17 9570469 9570469 single base substitution A C intron_variant MELA-AU 17 9570469 9570469 single base substitution A C upstream_gene_variant MELA-AU 17 9571038 9571038 single base substitution G A intron_variant MELA-AU 17 9571038 9571038 single base substitution G A upstream_gene_variant MELA-AU 17 9571045 9571045 single base substitution C T intron_variant MELA-AU 17 9571045 9571045 single base substitution C T upstream_gene_variant MELA-AU 17 9571314 9571314 single base substitution C T intron_variant MELA-AU 17 9571314 9571314 single base substitution C T upstream_gene_variant MELA-AU 17 9571486 9571486 single base substitution T A intron_variant MELA-AU 17 9571486 9571486 single base substitution T A upstream_gene_variant MELA-AU 17 9571596 9571596 single base substitution G A intron_variant MELA-AU 17 9571596 9571596 single base substitution G A upstream_gene_variant MELA-AU 17 9571766 9571766 single base substitution G A intron_variant MELA-AU 17 9571766 9571766 single base substitution G A upstream_gene_variant MELA-AU 17 9571907 9571907 single base substitution C T intron_variant MELA-AU 17 9571907 9571907 single base substitution C T upstream_gene_variant MELA-AU 17 9571939 9571939 single base substitution C T intron_variant MELA-AU 17 9571939 9571939 single base substitution C T upstream_gene_variant MELA-AU 17 9571942 9571942 single base substitution C T intron_variant MELA-AU 17 9571942 9571942 single base substitution C T upstream_gene_variant MELA-AU 17 9571988 9571988 single base substitution C T intron_variant MELA-AU 17 9571988 9571988 single base substitution C T upstream_gene_variant MELA-AU 17 9572084 9572084 single base substitution G A intron_variant MELA-AU 17 9572084 9572084 single base substitution G A upstream_gene_variant MELA-AU 17 9572889 9572889 single base substitution C T intron_variant MELA-AU 17 9572889 9572889 single base substitution C T upstream_gene_variant MELA-AU 17 9572982 9572982 single base substitution G A intron_variant MELA-AU 17 9572982 9572982 single base substitution G A upstream_gene_variant MELA-AU 17 9572999 9572999 single base substitution C T intron_variant MELA-AU 17 9572999 9572999 single base substitution C T upstream_gene_variant MELA-AU 17 9573014 9573014 single base substitution G A intron_variant MELA-AU 17 9573014 9573014 single base substitution G A upstream_gene_variant MELA-AU 17 9573078 9573078 single base substitution C A exon_variant MELA-AU 17 9573078 9573078 single base substitution C A intron_variant MELA-AU 17 9573178 9573178 single base substitution G A intron_variant MELA-AU 17 9573479 9573479 single base substitution C T intron_variant MELA-AU 17 9573976 9573976 single base substitution C T intron_variant MELA-AU 17 9574102 9574102 single base substitution C T intron_variant MELA-AU 17 9574847 9574847 single base substitution G A intron_variant MELA-AU 17 9575018 9575018 single base substitution G A intron_variant MELA-AU 17 9575234 9575234 single base substitution T A intron_variant MELA-AU 17 9575526 9575526 single base substitution T C intron_variant MELA-AU 17 9576106 9576106 single base substitution C T intron_variant MELA-AU 17 9576226 9576226 single base substitution T C intron_variant MELA-AU 17 9576228 9576228 single base substitution C T intron_variant MELA-AU 17 9576541 9576541 single base substitution C T intron_variant MELA-AU 17 9576709 9576709 single base substitution C T intron_variant MELA-AU 17 9576780 9576780 single base substitution C T intron_variant MELA-AU 17 9576857 9576857 single base substitution T C intron_variant MELA-AU 17 9576935 9576935 single base substitution T C intron_variant MELA-AU 17 9577107 9577107 single base substitution C T intron_variant MELA-AU 17 9577208 9577208 single base substitution G A intron_variant MELA-AU 17 9577275 9577276 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 9577510 9577510 single base substitution G A intron_variant MELA-AU 17 9577831 9577831 single base substitution C T intron_variant MELA-AU 17 9578262 9578262 single base substitution C T exon_variant MELA-AU 17 9578262 9578262 single base substitution C T synonymous_variant F265F 795C>T MELA-AU 17 9578262 9578262 single base substitution C T synonymous_variant F51F 153C>T MELA-AU 17 9578350 9578350 single base substitution C T intron_variant MELA-AU 17 9578714 9578714 single base substitution G A intron_variant MELA-AU 17 9578721 9578721 single base substitution G A intron_variant MELA-AU 17 9579196 9579196 single base substitution C T intron_variant MELA-AU 17 9579347 9579347 single base substitution C T intron_variant MELA-AU 17 9579753 9579753 single base substitution C T intron_variant MELA-AU 17 9579887 9579887 single base substitution C T intron_variant MELA-AU 17 9579914 9579914 single base substitution C T intron_variant MELA-AU 17 9580135 9580135 single base substitution C T exon_variant MELA-AU 17 9580135 9580135 single base substitution C T synonymous_variant I302I 906C>T MELA-AU 17 9580135 9580135 single base substitution C T synonymous_variant I88I 264C>T MELA-AU 17 9580449 9580449 single base substitution C G intron_variant MELA-AU 17 9580578 9580578 single base substitution G A intron_variant MELA-AU 17 9580848 9580848 single base substitution C T intron_variant MELA-AU 17 9580894 9580894 single base substitution G A intron_variant MELA-AU 17 9581147 9581147 single base substitution T G intron_variant MELA-AU 17 9581265 9581265 single base substitution C T intron_variant MELA-AU 17 9581307 9581307 single base substitution G A intron_variant MELA-AU 17 9581555 9581555 single base substitution C T intron_variant MELA-AU 17 9581564 9581564 single base substitution C T intron_variant MELA-AU 17 9581644 9581644 single base substitution C T intron_variant MELA-AU 17 9581679 9581679 single base substitution T C intron_variant MELA-AU 17 9581747 9581747 single base substitution C T intron_variant MELA-AU 17 9581796 9581796 single base substitution C T intron_variant MELA-AU 17 9582129 9582129 single base substitution G A intron_variant MELA-AU 17 9582268 9582268 single base substitution C T intron_variant MELA-AU 17 9582303 9582303 single base substitution C T intron_variant MELA-AU 17 9582499 9582499 single base substitution C T intron_variant MELA-AU 17 9582502 9582502 single base substitution G A intron_variant MELA-AU 17 9582625 9582625 single base substitution C T intron_variant MELA-AU 17 9582764 9582764 single base substitution C T intron_variant MELA-AU 17 9582800 9582800 single base substitution G A intron_variant MELA-AU 17 9582945 9582945 single base substitution C T intron_variant MELA-AU 17 9582969 9582969 single base substitution A G intron_variant MELA-AU 17 9583412 9583413 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 9583653 9583653 single base substitution C T exon_variant MELA-AU 17 9583653 9583653 single base substitution C T missense_variant P145S 433C>T MELA-AU 17 9583653 9583653 single base substitution C T missense_variant P359S 1075C>T MELA-AU 17 9583741 9583741 single base substitution G A intron_variant MELA-AU 17 9585088 9585088 single base substitution G A intron_variant MELA-AU 17 9585153 9585153 single base substitution T A intron_variant MELA-AU 17 9585249 9585249 single base substitution G A intron_variant MELA-AU 17 9585573 9585573 single base substitution C T intron_variant MELA-AU 17 9585580 9585580 single base substitution C T intron_variant MELA-AU 17 9586194 9586194 single base substitution G A exon_variant MELA-AU 17 9586194 9586194 single base substitution G A missense_variant R173Q 518G>A MELA-AU 17 9586194 9586194 single base substitution G A missense_variant R387Q 1160G>A MELA-AU 17 9586335 9586335 single base substitution G A intron_variant MELA-AU 17 9586651 9586651 single base substitution G A intron_variant MELA-AU 17 9586676 9586676 single base substitution T A intron_variant MELA-AU 17 9586733 9586733 single base substitution G A intron_variant MELA-AU 17 9586771 9586771 single base substitution G A intron_variant MELA-AU 17 9586917 9586917 single base substitution G A intron_variant MELA-AU 17 9587686 9587686 single base substitution G A intron_variant MELA-AU 17 9587688 9587688 single base substitution A G intron_variant MELA-AU 17 9587936 9587936 single base substitution C T intron_variant MELA-AU 17 9588365 9588365 single base substitution C T intron_variant MELA-AU 17 9589028 9589028 single base substitution G A intron_variant MELA-AU 17 9589449 9589449 single base substitution G A intron_variant MELA-AU 17 9589631 9589632 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 9589861 9589861 single base substitution C T intron_variant MELA-AU 17 9589899 9589899 single base substitution C T intron_variant MELA-AU 17 9590078 9590078 single base substitution C T intron_variant MELA-AU 17 9590114 9590114 single base substitution G A splice_acceptor_variant MELA-AU 17 9590156 9590156 single base substitution C T exon_variant MELA-AU 17 9590156 9590156 single base substitution C T missense_variant S214F 641C>T MELA-AU 17 9590156 9590156 single base substitution C T missense_variant S428F 1283C>T MELA-AU 17 9590522 9590522 single base substitution G A downstream_gene_variant MELA-AU 17 9590522 9590522 single base substitution G A intron_variant MELA-AU 17 9590544 9590544 single base substitution C T downstream_gene_variant MELA-AU 17 9590544 9590544 single base substitution C T intron_variant MELA-AU 17 9590943 9590943 single base substitution C T downstream_gene_variant MELA-AU 17 9590943 9590943 single base substitution C T intron_variant MELA-AU 17 9591069 9591070 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 9591069 9591070 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 9591152 9591152 single base substitution G A downstream_gene_variant MELA-AU 17 9591152 9591152 single base substitution G A intron_variant MELA-AU 17 9591423 9591423 single base substitution C T downstream_gene_variant MELA-AU 17 9591423 9591423 single base substitution C T intron_variant MELA-AU 17 9591558 9591558 single base substitution C T downstream_gene_variant MELA-AU 17 9591558 9591558 single base substitution C T intron_variant MELA-AU 17 9591756 9591756 single base substitution C T downstream_gene_variant MELA-AU 17 9591756 9591756 single base substitution C T intron_variant MELA-AU 17 9591898 9591898 single base substitution C T downstream_gene_variant MELA-AU 17 9591898 9591898 single base substitution C T intron_variant MELA-AU 17 9592110 9592110 single base substitution C T downstream_gene_variant MELA-AU 17 9592110 9592110 single base substitution C T intron_variant MELA-AU 17 9592376 9592376 single base substitution C T downstream_gene_variant MELA-AU 17 9592376 9592376 single base substitution C T intron_variant MELA-AU 17 9592745 9592745 single base substitution A T downstream_gene_variant MELA-AU 17 9592745 9592745 single base substitution A T intron_variant MELA-AU 17 9593033 9593033 single base substitution C T downstream_gene_variant MELA-AU 17 9593033 9593033 single base substitution C T intron_variant MELA-AU 17 9593299 9593299 single base substitution C T downstream_gene_variant MELA-AU 17 9593299 9593299 single base substitution C T intron_variant MELA-AU 17 9593504 9593504 single base substitution C A downstream_gene_variant MELA-AU 17 9593504 9593504 single base substitution C A intron_variant MELA-AU 17 9593523 9593523 single base substitution C T downstream_gene_variant MELA-AU 17 9593523 9593523 single base substitution C T intron_variant MELA-AU 17 9593721 9593721 single base substitution G A downstream_gene_variant MELA-AU 17 9593721 9593721 single base substitution G A intron_variant MELA-AU 17 9593968 9593968 single base substitution G A downstream_gene_variant MELA-AU 17 9593968 9593968 single base substitution G A intron_variant MELA-AU 17 9594036 9594036 single base substitution T C downstream_gene_variant MELA-AU 17 9594036 9594036 single base substitution T C intron_variant MELA-AU 17 9594424 9594424 single base substitution C A downstream_gene_variant MELA-AU 17 9594424 9594424 single base substitution C A intron_variant MELA-AU 17 9595067 9595067 single base substitution C T downstream_gene_variant MELA-AU 17 9595067 9595067 single base substitution C T intron_variant MELA-AU 17 9595160 9595160 single base substitution C T downstream_gene_variant MELA-AU 17 9595160 9595160 single base substitution C T intron_variant MELA-AU 17 9595286 9595286 single base substitution G A intron_variant MELA-AU 17 9595559 9595559 single base substitution C T intron_variant MELA-AU 17 9595764 9595764 single base substitution G A intron_variant MELA-AU 17 9596319 9596319 single base substitution G A intron_variant MELA-AU 17 9596342 9596342 single base substitution G A intron_variant MELA-AU 17 9596417 9596417 single base substitution G T intron_variant MELA-AU 17 9596420 9596420 single base substitution C T intron_variant MELA-AU 17 9596501 9596501 single base substitution T C exon_variant MELA-AU 17 9596501 9596501 single base substitution T C synonymous_variant L257L 769T>C MELA-AU 17 9596501 9596501 single base substitution T C synonymous_variant L471L 1411T>C MELA-AU 17 9596607 9596607 single base substitution C T intron_variant MELA-AU 17 9596800 9596800 single base substitution C T intron_variant MELA-AU 17 9596966 9596966 single base substitution A C intron_variant MELA-AU 17 9597426 9597426 single base substitution G A intron_variant MELA-AU 17 9597482 9597482 single base substitution C T intron_variant MELA-AU 17 9597492 9597492 single base substitution C T intron_variant MELA-AU 17 9597704 9597704 single base substitution C T intron_variant MELA-AU 17 9597981 9597981 single base substitution C T intron_variant MELA-AU 17 9598050 9598050 single base substitution C T intron_variant MELA-AU 17 9598485 9598485 single base substitution C T intron_variant MELA-AU 17 9598490 9598490 single base substitution C T intron_variant MELA-AU 17 9598844 9598844 single base substitution G A intron_variant MELA-AU 17 9599270 9599270 single base substitution C T intron_variant MELA-AU 17 9599274 9599274 single base substitution C T intron_variant MELA-AU 17 9599407 9599407 single base substitution C T intron_variant MELA-AU 17 9599428 9599428 single base substitution C T intron_variant MELA-AU 17 9599561 9599561 single base substitution C T intron_variant MELA-AU 17 9599561 9599561 single base substitution C T upstream_gene_variant MELA-AU 17 9599573 9599573 single base substitution C T intron_variant MELA-AU 17 9599573 9599573 single base substitution C T upstream_gene_variant MELA-AU 17 9599936 9599936 single base substitution C T intron_variant MELA-AU 17 9599936 9599936 single base substitution C T upstream_gene_variant MELA-AU 17 9599937 9599937 single base substitution C T intron_variant MELA-AU 17 9599937 9599937 single base substitution C T upstream_gene_variant MELA-AU 17 9600457 9600457 single base substitution C T intron_variant MELA-AU 17 9600457 9600457 single base substitution C T upstream_gene_variant MELA-AU 17 9600545 9600545 single base substitution A G intron_variant MELA-AU 17 9600545 9600545 single base substitution A G upstream_gene_variant MELA-AU 17 9600676 9600676 single base substitution G A intron_variant MELA-AU 17 9600676 9600676 single base substitution G A upstream_gene_variant MELA-AU 17 9600786 9600786 single base substitution A G intron_variant MELA-AU 17 9600786 9600786 single base substitution A G upstream_gene_variant MELA-AU 17 9600839 9600839 single base substitution C T intron_variant MELA-AU 17 9600839 9600839 single base substitution C T upstream_gene_variant MELA-AU 17 9600844 9600844 single base substitution C A intron_variant MELA-AU 17 9600844 9600844 single base substitution C A upstream_gene_variant MELA-AU 17 9601362 9601362 single base substitution G A intron_variant MELA-AU 17 9601362 9601362 single base substitution G A upstream_gene_variant MELA-AU 17 9601392 9601392 single base substitution C T intron_variant MELA-AU 17 9601392 9601392 single base substitution C T upstream_gene_variant MELA-AU 17 9601599 9601599 single base substitution C T intron_variant MELA-AU 17 9601599 9601599 single base substitution C T upstream_gene_variant MELA-AU 17 9601611 9601611 single base substitution G A intron_variant MELA-AU 17 9601611 9601611 single base substitution G A upstream_gene_variant MELA-AU 17 9601942 9601942 single base substitution C A intron_variant MELA-AU 17 9601942 9601942 single base substitution C A upstream_gene_variant MELA-AU 17 9602453 9602453 single base substitution A T intron_variant MELA-AU 17 9602453 9602453 single base substitution A T upstream_gene_variant MELA-AU 17 9602485 9602485 single base substitution C T intron_variant MELA-AU 17 9602485 9602485 single base substitution C T upstream_gene_variant MELA-AU 17 9602502 9602502 single base substitution C T intron_variant MELA-AU 17 9602502 9602502 single base substitution C T upstream_gene_variant MELA-AU 17 9602504 9602504 single base substitution C T intron_variant MELA-AU 17 9602504 9602504 single base substitution C T upstream_gene_variant MELA-AU 17 9602663 9602663 single base substitution C T intron_variant MELA-AU 17 9602663 9602663 single base substitution C T upstream_gene_variant MELA-AU 17 9602876 9602876 single base substitution C T intron_variant MELA-AU 17 9602876 9602876 single base substitution C T upstream_gene_variant MELA-AU 17 9602985 9602985 single base substitution G C intron_variant MELA-AU 17 9602985 9602985 single base substitution G C upstream_gene_variant MELA-AU 17 9603104 9603104 single base substitution G A intron_variant MELA-AU 17 9603104 9603104 single base substitution G A upstream_gene_variant MELA-AU 17 9603565 9603565 single base substitution C T missense_variant R298C 892C>T MELA-AU 17 9603565 9603565 single base substitution C T missense_variant R512C 1534C>T MELA-AU 17 9603565 9603565 single base substitution C T splice_region_variant MELA-AU 17 9603565 9603565 single base substitution C T upstream_gene_variant MELA-AU 17 9603628 9603628 single base substitution C T intron_variant MELA-AU 17 9603628 9603628 single base substitution C T upstream_gene_variant MELA-AU 17 9604554 9604554 single base substitution G A exon_variant MELA-AU 17 9604554 9604554 single base substitution G A missense_variant E338K 1012G>A MELA-AU 17 9604554 9604554 single base substitution G A missense_variant E552K 1654G>A MELA-AU 17 9604554 9604554 single base substitution G A synonymous_variant R41R 123G>A MELA-AU 17 9604579 9604579 single base substitution C T intron_variant MELA-AU 17 9604579 9604579 single base substitution C T missense_variant P50S 148C>T MELA-AU 17 9604593 9604593 single base substitution G A intron_variant MELA-AU 17 9604593 9604593 single base substitution G A synonymous_variant R54R 162G>A MELA-AU 17 9604711 9604711 single base substitution C T exon_variant MELA-AU 17 9604711 9604711 single base substitution C T synonymous_variant L355L 1063C>T MELA-AU 17 9604711 9604711 single base substitution C T synonymous_variant L569L 1705C>T MELA-AU 17 9604711 9604711 single base substitution C T synonymous_variant L94L 280C>T MELA-AU 17 9604815 9604815 single base substitution C T exon_variant MELA-AU 17 9604815 9604815 single base substitution C T synonymous_variant S128S 384C>T MELA-AU 17 9604815 9604815 single base substitution C T synonymous_variant S389S 1167C>T MELA-AU 17 9604815 9604815 single base substitution C T synonymous_variant S603S 1809C>T MELA-AU 17 9604836 9604836 single base substitution C T exon_variant MELA-AU 17 9604836 9604836 single base substitution C T synonymous_variant L135L 405C>T MELA-AU 17 9604836 9604836 single base substitution C T synonymous_variant L396L 1188C>T MELA-AU 17 9604836 9604836 single base substitution C T synonymous_variant L610L 1830C>T MELA-AU 17 9604963 9604963 single base substitution G C exon_variant MELA-AU 17 9604963 9604963 single base substitution G C missense_variant D178H 532G>C MELA-AU 17 9604963 9604963 single base substitution G C missense_variant D439H 1315G>C MELA-AU 17 9604963 9604963 single base substitution G C missense_variant D653H 1957G>C MELA-AU 17 9605280 9605280 single base substitution C T intron_variant MELA-AU 17 9605737 9605737 single base substitution C T intron_variant MELA-AU 17 9605955 9605955 single base substitution T C intron_variant MELA-AU 17 9605963 9605963 single base substitution G A intron_variant MELA-AU 17 9606106 9606106 single base substitution C T intron_variant MELA-AU 17 9606171 9606171 single base substitution G A intron_variant MELA-AU 17 9606407 9606407 single base substitution C T intron_variant MELA-AU 17 9606449 9606449 single base substitution C T intron_variant MELA-AU 17 9606461 9606461 single base substitution A G intron_variant MELA-AU 17 9606734 9606734 single base substitution G A intron_variant MELA-AU 17 9606810 9606810 single base substitution G A intron_variant MELA-AU 17 9606822 9606822 single base substitution C T intron_variant MELA-AU 17 9607538 9607538 single base substitution C T intron_variant MELA-AU 17 9607713 9607714 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 9607826 9607826 single base substitution G A intron_variant MELA-AU 17 9608082 9608082 single base substitution C T intron_variant MELA-AU 17 9608089 9608089 single base substitution C A intron_variant MELA-AU 17 9608252 9608252 single base substitution C T intron_variant MELA-AU 17 9608322 9608322 single base substitution C T intron_variant MELA-AU 17 9608821 9608821 single base substitution C T intron_variant MELA-AU 17 9610257 9610257 single base substitution G A intron_variant MELA-AU 17 9610501 9610502 multiple base substitution (>=2bp and <=200bp) TT GG intron_variant MELA-AU 17 9611049 9611049 single base substitution G A intron_variant MELA-AU 17 9611474 9611474 single base substitution C T intron_variant MELA-AU 17 9611509 9611509 single base substitution G A intron_variant MELA-AU 17 9611890 9611890 single base substitution G A intron_variant MELA-AU 17 9612035 9612035 single base substitution C T intron_variant MELA-AU 17 9612835 9612835 single base substitution C T intron_variant MELA-AU 17 9612943 9612943 single base substitution G C intron_variant MELA-AU 17 9613122 9613122 single base substitution G A intron_variant MELA-AU 17 9613170 9613170 single base substitution C T intron_variant MELA-AU 17 9613227 9613227 single base substitution C T intron_variant MELA-AU 17 9613238 9613238 single base substitution C T intron_variant MELA-AU 17 9613400 9613400 single base substitution C T exon_variant MELA-AU 17 9613400 9613400 single base substitution C T synonymous_variant I238I 714C>T MELA-AU 17 9613400 9613400 single base substitution C T synonymous_variant I499I 1497C>T MELA-AU 17 9613400 9613400 single base substitution C T synonymous_variant I708I 2124C>T MELA-AU 17 9613400 9613400 single base substitution C T synonymous_variant I713I 2139C>T MELA-AU 17 9613512 9613512 single base substitution G A intron_variant MELA-AU 17 9613716 9613716 single base substitution C T intron_variant MELA-AU 17 9613790 9613790 single base substitution G A intron_variant MELA-AU 17 9613864 9613864 single base substitution C T intron_variant MELA-AU 17 9614047 9614047 single base substitution C T intron_variant MELA-AU 17 9614379 9614379 single base substitution G A intron_variant MELA-AU 17 9614536 9614536 single base substitution T C intron_variant MELA-AU 17 9614599 9614599 single base substitution C G intron_variant MELA-AU 17 9615230 9615230 single base substitution G A intron_variant MELA-AU 17 9615263 9615263 single base substitution C T intron_variant MELA-AU 17 9615381 9615382 multiple base substitution (>=2bp and <=200bp) CC AT exon_variant MELA-AU 17 9615381 9615382 multiple base substitution (>=2bp and <=200bp) CC AT missense_variant P281H 842CC>AT MELA-AU 17 9615381 9615382 multiple base substitution (>=2bp and <=200bp) CC AT missense_variant P542H 1625CC>AT MELA-AU 17 9615381 9615382 multiple base substitution (>=2bp and <=200bp) CC AT missense_variant P751H 2252CC>AT MELA-AU 17 9615381 9615382 multiple base substitution (>=2bp and <=200bp) CC AT missense_variant P756H 2267CC>AT MELA-AU 17 9615387 9615387 single base substitution C T exon_variant MELA-AU 17 9615387 9615387 single base substitution C T missense_variant P283L 848C>T MELA-AU 17 9615387 9615387 single base substitution C T missense_variant P544L 1631C>T MELA-AU 17 9615387 9615387 single base substitution C T missense_variant P753L 2258C>T MELA-AU 17 9615387 9615387 single base substitution C T missense_variant P758L 2273C>T MELA-AU 17 9615446 9615446 single base substitution A C exon_variant MELA-AU 17 9615446 9615446 single base substitution A C missense_variant K303Q 907A>C MELA-AU 17 9615446 9615446 single base substitution A C missense_variant K564Q 1690A>C MELA-AU 17 9615446 9615446 single base substitution A C missense_variant K773Q 2317A>C MELA-AU 17 9615446 9615446 single base substitution A C missense_variant K778Q 2332A>C MELA-AU 17 9615550 9615550 single base substitution G A intron_variant MELA-AU 17 9615650 9615650 single base substitution G A intron_variant MELA-AU 17 9616150 9616150 single base substitution C T intron_variant MELA-AU 17 9616367 9616367 single base substitution C T intron_variant MELA-AU 17 9616763 9616763 single base substitution C T intron_variant MELA-AU 17 9616919 9616919 single base substitution C T intron_variant MELA-AU 17 9617301 9617301 single base substitution G A intron_variant MELA-AU 17 9617317 9617317 single base substitution C T intron_variant MELA-AU 17 9617641 9617641 single base substitution G A intron_variant MELA-AU 17 9619228 9619228 single base substitution C T intron_variant MELA-AU 17 9619340 9619340 single base substitution C T intron_variant MELA-AU 17 9619421 9619421 single base substitution T C intron_variant MELA-AU 17 9619509 9619509 single base substitution C T intron_variant MELA-AU 17 9619749 9619749 single base substitution C T intron_variant MELA-AU 17 9619887 9619887 single base substitution G A intron_variant MELA-AU 17 9620140 9620140 single base substitution C T intron_variant MELA-AU 17 9620666 9620666 single base substitution T C intron_variant MELA-AU 17 9620927 9620927 single base substitution C T intron_variant MELA-AU 17 9621086 9621086 single base substitution C T intron_variant MELA-AU 17 9621228 9621228 single base substitution C G intron_variant MELA-AU 17 9621382 9621382 single base substitution G A intron_variant MELA-AU 17 9621458 9621458 single base substitution C T intron_variant MELA-AU 17 9621576 9621576 single base substitution T A intron_variant MELA-AU 17 9621604 9621604 single base substitution C T intron_variant MELA-AU 17 9621864 9621864 single base substitution C T intron_variant MELA-AU 17 9622012 9622013 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 9622041 9622041 single base substitution C T intron_variant MELA-AU 17 9622584 9622584 single base substitution C T intron_variant MELA-AU 17 9622718 9622718 single base substitution G A intron_variant MELA-AU 17 9623082 9623082 single base substitution C G intron_variant MELA-AU 17 9623375 9623375 single base substitution C T intron_variant MELA-AU 17 9623557 9623557 single base substitution C T intron_variant MELA-AU 17 9624778 9624778 single base substitution G A intron_variant MELA-AU 17 9625361 9625361 single base substitution C T intron_variant MELA-AU 17 9625557 9625558 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 9625793 9625793 single base substitution C T intron_variant MELA-AU 17 9626109 9626109 single base substitution C T intron_variant MELA-AU 17 9627010 9627010 single base substitution C T intron_variant MELA-AU 17 9627239 9627239 single base substitution C T intron_variant MELA-AU 17 9627288 9627288 single base substitution C T intron_variant MELA-AU 17 9627305 9627305 single base substitution G T intron_variant MELA-AU 17 9627531 9627531 single base substitution C T intron_variant MELA-AU 17 9627575 9627575 single base substitution C T intron_variant MELA-AU 17 9627934 9627934 single base substitution T C intron_variant MELA-AU 17 9628072 9628072 single base substitution G A intron_variant MELA-AU 17 9628090 9628090 single base substitution C T intron_variant MELA-AU 17 9628284 9628284 single base substitution C T intron_variant MELA-AU 17 9628502 9628502 single base substitution C T intron_variant MELA-AU 17 9629137 9629137 single base substitution G A intron_variant MELA-AU 17 9630087 9630087 single base substitution C T intron_variant MELA-AU 17 9630581 9630581 single base substitution C T intron_variant MELA-AU 17 9630674 9630674 single base substitution C T intron_variant MELA-AU 17 9630832 9630832 single base substitution T C intron_variant MELA-AU 17 9631431 9631432 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 17 9631431 9631432 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant LV357LM MELA-AU 17 9631431 9631432 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant LV618LM MELA-AU 17 9631431 9631432 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant LV827LM MELA-AU 17 9631431 9631432 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant LV832LM MELA-AU 17 9631460 9631460 single base substitution C T exon_variant MELA-AU 17 9631460 9631460 single base substitution C T missense_variant P367L 1100C>T MELA-AU 17 9631460 9631460 single base substitution C T missense_variant P628L 1883C>T MELA-AU 17 9631460 9631460 single base substitution C T missense_variant P837L 2510C>T MELA-AU 17 9631460 9631460 single base substitution C T missense_variant P842L 2525C>T MELA-AU 17 9631599 9631599 single base substitution C T exon_variant MELA-AU 17 9631599 9631599 single base substitution C T synonymous_variant A413A 1239C>T MELA-AU 17 9631599 9631599 single base substitution C T synonymous_variant A674A 2022C>T MELA-AU 17 9631599 9631599 single base substitution C T synonymous_variant A883A 2649C>T MELA-AU 17 9631599 9631599 single base substitution C T synonymous_variant A888A 2664C>T MELA-AU 17 9631812 9631812 single base substitution C T exon_variant MELA-AU 17 9631812 9631812 single base substitution C T synonymous_variant F484F 1452C>T MELA-AU 17 9631812 9631812 single base substitution C T synonymous_variant F745F 2235C>T MELA-AU 17 9631812 9631812 single base substitution C T synonymous_variant F954F 2862C>T MELA-AU 17 9631812 9631812 single base substitution C T synonymous_variant F959F 2877C>T MELA-AU 17 9632076 9632076 single base substitution C T exon_variant MELA-AU 17 9632076 9632076 single base substitution C T synonymous_variant I1042I 3126C>T MELA-AU 17 9632076 9632076 single base substitution C T synonymous_variant I1047I 3141C>T MELA-AU 17 9632076 9632076 single base substitution C T synonymous_variant I572I 1716C>T MELA-AU 17 9632076 9632076 single base substitution C T synonymous_variant I833I 2499C>T MELA-AU 17 9632212 9632212 single base substitution C T exon_variant MELA-AU 17 9632212 9632212 single base substitution C T missense_variant P1088S 3262C>T MELA-AU 17 9632212 9632212 single base substitution C T missense_variant P1093S 3277C>T MELA-AU 17 9632212 9632212 single base substitution C T missense_variant P618S 1852C>T MELA-AU 17 9632212 9632212 single base substitution C T missense_variant P879S 2635C>T MELA-AU 17 9632244 9632244 single base substitution G A exon_variant MELA-AU 17 9632244 9632244 single base substitution G A synonymous_variant Q1098Q 3294G>A MELA-AU 17 9632244 9632244 single base substitution G A synonymous_variant Q1103Q 3309G>A MELA-AU 17 9632244 9632244 single base substitution G A synonymous_variant Q628Q 1884G>A MELA-AU 17 9632244 9632244 single base substitution G A synonymous_variant Q889Q 2667G>A MELA-AU 17 9632838 9632838 single base substitution G A 3_prime_UTR_variant MELA-AU 17 9632838 9632838 single base substitution G A downstream_gene_variant MELA-AU 17 9633407 9633407 single base substitution C T downstream_gene_variant MELA-AU 17 9634451 9634451 single base substitution G A downstream_gene_variant MELA-AU 17 9634644 9634644 single base substitution C T downstream_gene_variant MELA-AU 17 9634813 9634813 single base substitution C T downstream_gene_variant MELA-AU 17 9634864 9634864 single base substitution C T downstream_gene_variant MELA-AU 17 9635168 9635168 single base substitution C T downstream_gene_variant MELA-AU 17 9635454 9635454 single base substitution T C downstream_gene_variant MELA-AU 17 9635645 9635645 single base substitution C T downstream_gene_variant MELA-AU 17 9635661 9635661 single base substitution G A downstream_gene_variant MELA-AU 17 9635732 9635732 single base substitution C T downstream_gene_variant MELA-AU 17 9635794 9635794 single base substitution G A downstream_gene_variant MELA-AU 17 9635872 9635872 single base substitution C T downstream_gene_variant MELA-AU 17 9635960 9635961 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 9636327 9636327 single base substitution G A downstream_gene_variant MELA-AU 17 9636343 9636343 single base substitution G A downstream_gene_variant MELA-AU 17 9637100 9637100 single base substitution T A downstream_gene_variant MELA-AU 17 9637152 9637152 single base substitution G A downstream_gene_variant MELA-AU 17 9637279 9637279 single base substitution G A downstream_gene_variant MELA-AU 17 9637321 9637321 single base substitution C T downstream_gene_variant MELA-AU 17 9638000 9638000 single base substitution G A downstream_gene_variant ORCA-IN 17 9559902 9559902 single base substitution T G intron_variant ORCA-IN 17 9587437 9587437 single base substitution G T intron_variant ORCA-IN 17 9593844 9593844 deletion of <=200bp C - downstream_gene_variant ORCA-IN 17 9593844 9593844 deletion of <=200bp C - intron_variant ORCA-IN 17 9608941 9608941 single base substitution G A intron_variant ORCA-IN 17 9615280 9615280 single base substitution C A splice_region_variant ORCA-IN 17 9628468 9628468 single base substitution C G intron_variant ORCA-IN 17 9629868 9629868 single base substitution G A intron_variant ORCA-IN 17 9631476 9631476 single base substitution G T exon_variant ORCA-IN 17 9631476 9631476 single base substitution G T missense_variant Q372H 1116G>T ORCA-IN 17 9631476 9631476 single base substitution G T missense_variant Q633H 1899G>T ORCA-IN 17 9631476 9631476 single base substitution G T missense_variant Q842H 2526G>T ORCA-IN 17 9631476 9631476 single base substitution G T missense_variant Q847H 2541G>T ORCA-IN 17 9631577 9631577 single base substitution G T exon_variant ORCA-IN 17 9631577 9631577 single base substitution G T missense_variant R406L 1217G>T ORCA-IN 17 9631577 9631577 single base substitution G T missense_variant R667L 2000G>T ORCA-IN 17 9631577 9631577 single base substitution G T missense_variant R876L 2627G>T ORCA-IN 17 9631577 9631577 single base substitution G T missense_variant R881L 2642G>T ORCA-IN 17 9632175 9632175 single base substitution G A exon_variant ORCA-IN 17 9632175 9632175 single base substitution G A synonymous_variant P1075P 3225G>A ORCA-IN 17 9632175 9632175 single base substitution G A synonymous_variant P1080P 3240G>A ORCA-IN 17 9632175 9632175 single base substitution G A synonymous_variant P605P 1815G>A ORCA-IN 17 9632175 9632175 single base substitution G A synonymous_variant P866P 2598G>A OV-AU 17 9552273 9552273 single base substitution T C intron_variant OV-AU 17 9553690 9553690 single base substitution C G intron_variant OV-AU 17 9557700 9557700 single base substitution C T intron_variant OV-AU 17 9557700 9557700 single base substitution C T upstream_gene_variant OV-AU 17 9561275 9561275 single base substitution A C intron_variant OV-AU 17 9564468 9564468 single base substitution C G intron_variant OV-AU 17 9565337 9565337 single base substitution T G intron_variant OV-AU 17 9570745 9570745 single base substitution A G intron_variant OV-AU 17 9570745 9570745 single base substitution A G upstream_gene_variant OV-AU 17 9571125 9571125 single base substitution G A intron_variant OV-AU 17 9571125 9571125 single base substitution G A upstream_gene_variant OV-AU 17 9577282 9577282 single base substitution C G intron_variant OV-AU 17 9577880 9577880 single base substitution T C intron_variant OV-AU 17 9581824 9581824 single base substitution A G intron_variant OV-AU 17 9582482 9582482 single base substitution G C intron_variant OV-AU 17 9584441 9584441 single base substitution A T intron_variant OV-AU 17 9600373 9600373 single base substitution A T intron_variant OV-AU 17 9600373 9600373 single base substitution A T upstream_gene_variant OV-AU 17 9604503 9604503 single base substitution C T exon_variant OV-AU 17 9604503 9604503 single base substitution C T missense_variant H321Y 961C>T OV-AU 17 9604503 9604503 single base substitution C T missense_variant H535Y 1603C>T OV-AU 17 9604503 9604503 single base substitution C T synonymous_variant R24R 72C>T OV-AU 17 9605605 9605605 single base substitution C T intron_variant OV-AU 17 9612179 9612179 single base substitution C T intron_variant OV-AU 17 9613982 9613982 single base substitution G A intron_variant OV-AU 17 9618060 9618060 single base substitution G T intron_variant OV-AU 17 9621335 9621335 single base substitution G A intron_variant OV-AU 17 9622949 9622949 single base substitution A G intron_variant OV-AU 17 9625280 9625280 single base substitution A C intron_variant OV-AU 17 9637140 9637140 single base substitution C G downstream_gene_variant OV-US 17 9631299 9631299 single base substitution G T exon_variant OV-US 17 9631299 9631299 single base substitution G T synonymous_variant R313R 939G>T OV-US 17 9631299 9631299 single base substitution G T synonymous_variant R574R 1722G>T OV-US 17 9631299 9631299 single base substitution G T synonymous_variant R783R 2349G>T OV-US 17 9631299 9631299 single base substitution G T synonymous_variant R788R 2364G>T PACA-AU 17 9543533 9543533 single base substitution C A upstream_gene_variant PACA-AU 17 9551333 9551333 single base substitution G A intron_variant PACA-AU 17 9552273 9552273 single base substitution T C intron_variant PACA-AU 17 9553035 9553035 single base substitution G C intron_variant PACA-AU 17 9576924 9576924 single base substitution T G intron_variant PACA-AU 17 9580310 9580310 single base substitution C T intron_variant PACA-AU 17 9585172 9585172 single base substitution G A intron_variant PACA-AU 17 9585664 9585664 single base substitution C A intron_variant PACA-AU 17 9587304 9587304 single base substitution A G intron_variant PACA-AU 17 9593543 9593543 single base substitution T G downstream_gene_variant PACA-AU 17 9593543 9593543 single base substitution T G intron_variant PACA-AU 17 9597361 9597361 single base substitution G A intron_variant PACA-AU 17 9597928 9597928 single base substitution T A intron_variant PACA-AU 17 9597929 9597929 single base substitution A T intron_variant PACA-AU 17 9612102 9612102 single base substitution G A intron_variant PACA-AU 17 9613339 9613339 single base substitution G A exon_variant PACA-AU 17 9613339 9613339 single base substitution G A missense_variant R218Q 653G>A PACA-AU 17 9613339 9613339 single base substitution G A missense_variant R479Q 1436G>A PACA-AU 17 9613339 9613339 single base substitution G A missense_variant R688Q 2063G>A PACA-AU 17 9613339 9613339 single base substitution G A missense_variant R693Q 2078G>A PACA-AU 17 9616764 9616764 single base substitution C T intron_variant PACA-AU 17 9618150 9618150 deletion of <=200bp A - intron_variant PACA-AU 17 9619146 9619146 single base substitution A T intron_variant PACA-AU 17 9620395 9620395 single base substitution G A intron_variant PACA-AU 17 9629848 9629848 single base substitution G A intron_variant PACA-AU 17 9630182 9630182 single base substitution C T intron_variant PACA-AU 17 9631996 9631996 insertion of <=200bp - C exon_variant PACA-AU 17 9631996 9631996 insertion of <=200bp - C frameshift_variant P1016P? PACA-AU 17 9631996 9631996 insertion of <=200bp - C frameshift_variant P1021P? PACA-AU 17 9631996 9631996 insertion of <=200bp - C frameshift_variant P546P? PACA-AU 17 9631996 9631996 insertion of <=200bp - C frameshift_variant P807P? PACA-AU 17 9634060 9634060 single base substitution G A downstream_gene_variant PACA-AU 17 9636803 9636803 single base substitution C A downstream_gene_variant PACA-CA 17 9557133 9557133 single base substitution C G intron_variant PACA-CA 17 9557133 9557133 single base substitution C G upstream_gene_variant PACA-CA 17 9559910 9559910 single base substitution G A intron_variant PACA-CA 17 9559972 9559972 single base substitution A T intron_variant PACA-CA 17 9559973 9559973 single base substitution C A intron_variant PACA-CA 17 9563055 9563055 single base substitution G A intron_variant PACA-CA 17 9563958 9563958 single base substitution G T intron_variant PACA-CA 17 9566192 9566192 single base substitution T C intron_variant PACA-CA 17 9568450 9568450 single base substitution G A intron_variant PACA-CA 17 9568450 9568450 single base substitution G A upstream_gene_variant PACA-CA 17 9570516 9570516 deletion of <=200bp A - intron_variant PACA-CA 17 9570516 9570516 deletion of <=200bp A - upstream_gene_variant PACA-CA 17 9574283 9574283 single base substitution C T intron_variant PACA-CA 17 9574559 9574559 single base substitution C T intron_variant PACA-CA 17 9575476 9575476 single base substitution G A intron_variant PACA-CA 17 9577959 9577959 single base substitution C T intron_variant PACA-CA 17 9579940 9579940 single base substitution C G intron_variant PACA-CA 17 9581591 9581591 single base substitution G C intron_variant PACA-CA 17 9582040 9582040 deletion of <=200bp C - intron_variant PACA-CA 17 9584448 9584448 single base substitution C G intron_variant PACA-CA 17 9591589 9591589 single base substitution C T downstream_gene_variant PACA-CA 17 9591589 9591589 single base substitution C T intron_variant PACA-CA 17 9592171 9592171 insertion of <=200bp - T downstream_gene_variant PACA-CA 17 9592171 9592171 insertion of <=200bp - T intron_variant PACA-CA 17 9594439 9594439 single base substitution C T downstream_gene_variant PACA-CA 17 9594439 9594439 single base substitution C T intron_variant PACA-CA 17 9596813 9596813 deletion of <=200bp C - intron_variant PACA-CA 17 9596816 9596823 deletion of <=200bp GTTAATAG - intron_variant PACA-CA 17 9597325 9597325 single base substitution G T intron_variant PACA-CA 17 9600448 9600448 single base substitution C T intron_variant PACA-CA 17 9600448 9600448 single base substitution C T upstream_gene_variant PACA-CA 17 9601238 9601238 single base substitution T C intron_variant PACA-CA 17 9601238 9601238 single base substitution T C upstream_gene_variant PACA-CA 17 9608809 9608809 single base substitution C T intron_variant PACA-CA 17 9611286 9611286 single base substitution C T intron_variant PACA-CA 17 9617010 9617010 single base substitution A G intron_variant PACA-CA 17 9620930 9620930 single base substitution C T intron_variant PACA-CA 17 9621554 9621554 single base substitution T C intron_variant PACA-CA 17 9623212 9623212 single base substitution T C intron_variant PACA-CA 17 9623866 9623866 single base substitution C T intron_variant PACA-CA 17 9627409 9627409 single base substitution G A intron_variant PACA-CA 17 9627473 9627473 single base substitution A C intron_variant PAEN-AU 17 9552358 9552358 single base substitution A C intron_variant PAEN-AU 17 9563405 9563405 single base substitution G A intron_variant PAEN-AU 17 9569169 9569169 single base substitution T G intron_variant PAEN-AU 17 9569169 9569169 single base substitution T G upstream_gene_variant PAEN-AU 17 9597444 9597444 single base substitution C A intron_variant PAEN-IT 17 9549175 9549175 single base substitution G T intron_variant PAEN-IT 17 9549175 9549175 single base substitution G T missense_variant G76W 226G>T PBCA-DE 17 9560644 9560644 single base substitution C T intron_variant PBCA-DE 17 9565956 9565956 single base substitution C G intron_variant PBCA-DE 17 9574597 9574598 deletion of <=200bp GT - intron_variant PBCA-DE 17 9576315 9576315 single base substitution G C intron_variant PBCA-DE 17 9577436 9577436 single base substitution G C intron_variant PBCA-DE 17 9586182 9586182 single base substitution G A exon_variant PBCA-DE 17 9586182 9586182 single base substitution G A missense_variant R169H 506G>A PBCA-DE 17 9586182 9586182 single base substitution G A missense_variant R383H 1148G>A PBCA-DE 17 9589955 9589955 single base substitution T A intron_variant PBCA-DE 17 9590244 9590245 deletion of <=200bp GT - downstream_gene_variant PBCA-DE 17 9590244 9590245 deletion of <=200bp GT - intron_variant PBCA-DE 17 9590526 9590526 insertion of <=200bp - T downstream_gene_variant PBCA-DE 17 9590526 9590526 insertion of <=200bp - T intron_variant PBCA-DE 17 9598471 9598471 single base substitution C T intron_variant PBCA-DE 17 9600466 9600466 single base substitution G A intron_variant PBCA-DE 17 9600466 9600466 single base substitution G A upstream_gene_variant PBCA-DE 17 9600656 9600656 deletion of <=200bp T - intron_variant PBCA-DE 17 9600656 9600656 deletion of <=200bp T - upstream_gene_variant PBCA-DE 17 9605526 9605526 deletion of <=200bp A - intron_variant PBCA-DE 17 9608927 9608927 deletion of <=200bp C - intron_variant PBCA-DE 17 9619584 9619584 single base substitution G C intron_variant PBCA-DE 17 9622004 9622004 insertion of <=200bp - AA intron_variant PBCA-DE 17 9637072 9637072 single base substitution T A downstream_gene_variant PBCA-DE 17 9637397 9637397 deletion of <=200bp T - downstream_gene_variant PRAD-CA 17 9573934 9573934 single base substitution T G intron_variant PRAD-CA 17 9579149 9579149 single base substitution C T intron_variant PRAD-CA 17 9584530 9584530 single base substitution C T intron_variant PRAD-CA 17 9594439 9594439 single base substitution C T downstream_gene_variant PRAD-CA 17 9594439 9594439 single base substitution C T intron_variant PRAD-CA 17 9594512 9594512 single base substitution A T downstream_gene_variant PRAD-CA 17 9594512 9594512 single base substitution A T intron_variant PRAD-CA 17 9605587 9605587 single base substitution G T intron_variant PRAD-CA 17 9607028 9607028 single base substitution C T intron_variant PRAD-CA 17 9608780 9608780 single base substitution T C intron_variant PRAD-CA 17 9622970 9622970 single base substitution C T intron_variant PRAD-CA 17 9631345 9631345 single base substitution C A exon_variant PRAD-CA 17 9631345 9631345 single base substitution C A synonymous_variant R329R 985C>A PRAD-CA 17 9631345 9631345 single base substitution C A synonymous_variant R590R 1768C>A PRAD-CA 17 9631345 9631345 single base substitution C A synonymous_variant R799R 2395C>A PRAD-CA 17 9631345 9631345 single base substitution C A synonymous_variant R804R 2410C>A PRAD-CA 17 9634704 9634704 single base substitution G A downstream_gene_variant PRAD-CA 17 9637752 9637752 single base substitution C T downstream_gene_variant PRAD-UK 17 9543386 9543386 single base substitution T A upstream_gene_variant PRAD-UK 17 9544270 9544270 single base substitution G A upstream_gene_variant PRAD-UK 17 9554206 9554206 single base substitution T A intron_variant PRAD-UK 17 9559714 9559714 single base substitution T G splice_region_variant PRAD-UK 17 9559714 9559714 single base substitution T G upstream_gene_variant PRAD-UK 17 9566515 9566515 single base substitution T A intron_variant PRAD-UK 17 9570066 9570066 single base substitution T G intron_variant PRAD-UK 17 9570066 9570066 single base substitution T G splice_region_variant PRAD-UK 17 9570066 9570066 single base substitution T G stop_gained Y246* 738T>G PRAD-UK 17 9570066 9570066 single base substitution T G upstream_gene_variant PRAD-UK 17 9583064 9583064 single base substitution T G intron_variant PRAD-UK 17 9613720 9613720 single base substitution G A intron_variant READ-US 17 9631698 9631698 single base substitution G C exon_variant READ-US 17 9631698 9631698 single base substitution G C missense_variant Q446H 1338G>C READ-US 17 9631698 9631698 single base substitution G C missense_variant Q707H 2121G>C READ-US 17 9631698 9631698 single base substitution G C missense_variant Q916H 2748G>C READ-US 17 9631698 9631698 single base substitution G C missense_variant Q921H 2763G>C READ-US 17 9631772 9631772 single base substitution G A exon_variant READ-US 17 9631772 9631772 single base substitution G A missense_variant R471Q 1412G>A READ-US 17 9631772 9631772 single base substitution G A missense_variant R732Q 2195G>A READ-US 17 9631772 9631772 single base substitution G A missense_variant R941Q 2822G>A READ-US 17 9631772 9631772 single base substitution G A missense_variant R946Q 2837G>A READ-US 17 9632224 9632224 single base substitution G A exon_variant READ-US 17 9632224 9632224 single base substitution G A missense_variant A1092T 3274G>A READ-US 17 9632224 9632224 single base substitution G A missense_variant A1097T 3289G>A READ-US 17 9632224 9632224 single base substitution G A missense_variant A622T 1864G>A READ-US 17 9632224 9632224 single base substitution G A missense_variant A883T 2647G>A RECA-EU 17 9559506 9559506 single base substitution T C intron_variant RECA-EU 17 9559506 9559506 single base substitution T C upstream_gene_variant RECA-EU 17 9562334 9562334 single base substitution C G intron_variant RECA-EU 17 9564264 9564264 single base substitution G T intron_variant RECA-EU 17 9564806 9564806 single base substitution A G intron_variant RECA-EU 17 9585981 9585981 single base substitution C T intron_variant RECA-EU 17 9605119 9605119 single base substitution T C intron_variant RECA-EU 17 9608820 9608820 single base substitution C T intron_variant RECA-EU 17 9613491 9613491 single base substitution A G intron_variant RECA-EU 17 9619058 9619058 single base substitution G C intron_variant RECA-EU 17 9629480 9629480 single base substitution C T intron_variant SKCA-BR 17 9543054 9543054 single base substitution T G upstream_gene_variant SKCA-BR 17 9546075 9546075 single base substitution T C upstream_gene_variant SKCA-BR 17 9550378 9550379 deletion of <=200bp CA - intron_variant SKCA-BR 17 9551045 9551045 single base substitution A T intron_variant SKCA-BR 17 9551096 9551096 single base substitution T G intron_variant SKCA-BR 17 9555596 9555596 single base substitution A G intron_variant SKCA-BR 17 9555596 9555596 single base substitution A G upstream_gene_variant SKCA-BR 17 9557540 9557540 single base substitution T C intron_variant SKCA-BR 17 9557540 9557540 single base substitution T C upstream_gene_variant SKCA-BR 17 9558396 9558396 single base substitution G A intron_variant SKCA-BR 17 9558396 9558396 single base substitution G A upstream_gene_variant SKCA-BR 17 9558726 9558726 single base substitution G A intron_variant SKCA-BR 17 9558726 9558726 single base substitution G A upstream_gene_variant SKCA-BR 17 9559217 9559217 single base substitution A T intron_variant SKCA-BR 17 9559217 9559217 single base substitution A T upstream_gene_variant SKCA-BR 17 9559276 9559276 single base substitution G A intron_variant SKCA-BR 17 9559276 9559276 single base substitution G A upstream_gene_variant SKCA-BR 17 9559583 9559583 single base substitution C T intron_variant SKCA-BR 17 9559583 9559583 single base substitution C T upstream_gene_variant SKCA-BR 17 9559738 9559738 single base substitution G C exon_variant SKCA-BR 17 9559738 9559738 single base substitution G C missense_variant G175R 523G>C SKCA-BR 17 9559738 9559738 single base substitution G C upstream_gene_variant SKCA-BR 17 9561425 9561425 single base substitution G A intron_variant SKCA-BR 17 9561717 9561717 single base substitution C T intron_variant SKCA-BR 17 9562005 9562005 single base substitution C T intron_variant SKCA-BR 17 9562982 9562982 single base substitution C T intron_variant SKCA-BR 17 9564840 9564840 single base substitution T C intron_variant SKCA-BR 17 9565661 9565661 single base substitution C T intron_variant SKCA-BR 17 9566137 9566137 insertion of <=200bp - CT intron_variant SKCA-BR 17 9566480 9566480 single base substitution C T intron_variant SKCA-BR 17 9566577 9566577 single base substitution G A intron_variant SKCA-BR 17 9566738 9566738 single base substitution C T intron_variant SKCA-BR 17 9568047 9568047 single base substitution C G intron_variant SKCA-BR 17 9568047 9568047 single base substitution C G upstream_gene_variant SKCA-BR 17 9569662 9569662 single base substitution C T intron_variant SKCA-BR 17 9569662 9569662 single base substitution C T upstream_gene_variant SKCA-BR 17 9569746 9569746 single base substitution C T intron_variant SKCA-BR 17 9569746 9569746 single base substitution C T upstream_gene_variant SKCA-BR 17 9572383 9572383 single base substitution G A intron_variant SKCA-BR 17 9572383 9572383 single base substitution G A upstream_gene_variant SKCA-BR 17 9572810 9572810 single base substitution A G intron_variant SKCA-BR 17 9572810 9572810 single base substitution A G upstream_gene_variant SKCA-BR 17 9574313 9574313 single base substitution G A intron_variant SKCA-BR 17 9574871 9574871 single base substitution C T intron_variant SKCA-BR 17 9575354 9575354 single base substitution C T intron_variant SKCA-BR 17 9577535 9577535 single base substitution A C intron_variant SKCA-BR 17 9577575 9577575 single base substitution C T intron_variant SKCA-BR 17 9580380 9580380 single base substitution C T intron_variant SKCA-BR 17 9581450 9581450 single base substitution G A intron_variant SKCA-BR 17 9581644 9581644 single base substitution C T intron_variant SKCA-BR 17 9583330 9583330 insertion of <=200bp - AT intron_variant SKCA-BR 17 9583330 9583331 deletion of <=200bp AT - intron_variant SKCA-BR 17 9584298 9584298 single base substitution G A intron_variant SKCA-BR 17 9584427 9584427 single base substitution A T intron_variant SKCA-BR 17 9584496 9584496 insertion of <=200bp - AAT intron_variant SKCA-BR 17 9584502 9584502 single base substitution C T intron_variant SKCA-BR 17 9584509 9584509 single base substitution A G intron_variant SKCA-BR 17 9584514 9584516 deletion of <=200bp TAC - intron_variant SKCA-BR 17 9584523 9584523 single base substitution A G intron_variant SKCA-BR 17 9584528 9584530 deletion of <=200bp TAC - intron_variant SKCA-BR 17 9584540 9584540 single base substitution A T intron_variant SKCA-BR 17 9584553 9584553 single base substitution A G intron_variant SKCA-BR 17 9588048 9588048 single base substitution C T intron_variant SKCA-BR 17 9591761 9591761 single base substitution A G downstream_gene_variant SKCA-BR 17 9591761 9591761 single base substitution A G intron_variant SKCA-BR 17 9592730 9592730 single base substitution T A downstream_gene_variant SKCA-BR 17 9592730 9592730 single base substitution T A intron_variant SKCA-BR 17 9596674 9596674 single base substitution A C intron_variant SKCA-BR 17 9597492 9597492 single base substitution C T intron_variant SKCA-BR 17 9598659 9598659 insertion of <=200bp - CT intron_variant SKCA-BR 17 9599329 9599329 single base substitution C T intron_variant SKCA-BR 17 9599459 9599459 insertion of <=200bp - GT intron_variant SKCA-BR 17 9599459 9599459 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 17 9599576 9599576 single base substitution G A intron_variant SKCA-BR 17 9599576 9599576 single base substitution G A upstream_gene_variant SKCA-BR 17 9600035 9600035 single base substitution C T intron_variant SKCA-BR 17 9600035 9600035 single base substitution C T upstream_gene_variant SKCA-BR 17 9600803 9600803 single base substitution C T intron_variant SKCA-BR 17 9600803 9600803 single base substitution C T upstream_gene_variant SKCA-BR 17 9600811 9600811 single base substitution C T intron_variant SKCA-BR 17 9600811 9600811 single base substitution C T upstream_gene_variant SKCA-BR 17 9601962 9601962 single base substitution C T intron_variant SKCA-BR 17 9601962 9601962 single base substitution C T upstream_gene_variant SKCA-BR 17 9602872 9602872 single base substitution T A intron_variant SKCA-BR 17 9602872 9602872 single base substitution T A upstream_gene_variant SKCA-BR 17 9603643 9603643 single base substitution C T intron_variant SKCA-BR 17 9603643 9603643 single base substitution C T upstream_gene_variant SKCA-BR 17 9604179 9604179 single base substitution C T intron_variant SKCA-BR 17 9604179 9604179 single base substitution C T upstream_gene_variant SKCA-BR 17 9604563 9604563 single base substitution G A splice_donor_variant SKCA-BR 17 9604563 9604563 single base substitution G A synonymous_variant R44R 132G>A SKCA-BR 17 9605525 9605526 deletion of <=200bp GA - intron_variant SKCA-BR 17 9607643 9607643 single base substitution G A intron_variant SKCA-BR 17 9608542 9608542 single base substitution G A intron_variant SKCA-BR 17 9608911 9608911 single base substitution A C intron_variant SKCA-BR 17 9609742 9609742 single base substitution C T intron_variant SKCA-BR 17 9609991 9609991 single base substitution C T intron_variant SKCA-BR 17 9616065 9616065 single base substitution C G intron_variant SKCA-BR 17 9617721 9617721 single base substitution G T intron_variant SKCA-BR 17 9618932 9618932 single base substitution A T intron_variant SKCA-BR 17 9619324 9619324 single base substitution C A intron_variant SKCA-BR 17 9620715 9620715 single base substitution T A intron_variant SKCA-BR 17 9621744 9621744 single base substitution G A intron_variant SKCA-BR 17 9625214 9625214 insertion of <=200bp - AT intron_variant SKCA-BR 17 9630454 9630454 single base substitution T A intron_variant SKCA-BR 17 9630820 9630820 insertion of <=200bp - AT intron_variant SKCA-BR 17 9635506 9635506 single base substitution C T downstream_gene_variant SKCA-BR 17 9636402 9636402 single base substitution G A downstream_gene_variant SKCA-BR 17 9637229 9637232 deletion of <=200bp CTCT - downstream_gene_variant SKCA-BR 17 9637365 9637365 single base substitution G A downstream_gene_variant SKCM-US 17 9546490 9546490 single base substitution G A upstream_gene_variant SKCM-US 17 9580154 9580154 single base substitution C T exon_variant SKCM-US 17 9580154 9580154 single base substitution C T synonymous_variant L309L 925C>T SKCM-US 17 9580154 9580154 single base substitution C T synonymous_variant L95L 283C>T SKCM-US 17 9583586 9583586 single base substitution G A exon_variant SKCM-US 17 9583586 9583586 single base substitution G A synonymous_variant R122R 366G>A SKCM-US 17 9583586 9583586 single base substitution G A synonymous_variant R336R 1008G>A SKCM-US 17 9583588 9583588 single base substitution C T exon_variant SKCM-US 17 9583588 9583588 single base substitution C T missense_variant S123F 368C>T SKCM-US 17 9583588 9583588 single base substitution C T missense_variant S337F 1010C>T SKCM-US 17 9586206 9586206 single base substitution C T exon_variant SKCM-US 17 9586206 9586206 single base substitution C T missense_variant S177F 530C>T SKCM-US 17 9586206 9586206 single base substitution C T missense_variant S391F 1172C>T SKCM-US 17 9590126 9590126 single base substitution C T exon_variant SKCM-US 17 9590126 9590126 single base substitution C T missense_variant P204L 611C>T SKCM-US 17 9590126 9590126 single base substitution C T missense_variant P418L 1253C>T SKCM-US 17 9590140 9590140 single base substitution G A exon_variant SKCM-US 17 9590140 9590140 single base substitution G A missense_variant E209K 625G>A SKCM-US 17 9590140 9590140 single base substitution G A missense_variant E423K 1267G>A SKCM-US 17 9596507 9596507 single base substitution C T exon_variant SKCM-US 17 9596507 9596507 single base substitution C T missense_variant P259S 775C>T SKCM-US 17 9596507 9596507 single base substitution C T missense_variant P473S 1417C>T SKCM-US 17 9613338 9613338 single base substitution C T exon_variant SKCM-US 17 9613338 9613338 single base substitution C T stop_gained R218* 652C>T SKCM-US 17 9613338 9613338 single base substitution C T stop_gained R479* 1435C>T SKCM-US 17 9613338 9613338 single base substitution C T stop_gained R688* 2062C>T SKCM-US 17 9613338 9613338 single base substitution C T stop_gained R693* 2077C>T SKCM-US 17 9615323 9615323 single base substitution C T exon_variant SKCM-US 17 9615323 9615323 single base substitution C T missense_variant R262W 784C>T SKCM-US 17 9615323 9615323 single base substitution C T missense_variant R523W 1567C>T SKCM-US 17 9615323 9615323 single base substitution C T missense_variant R732W 2194C>T SKCM-US 17 9615323 9615323 single base substitution C T missense_variant R737W 2209C>T SKCM-US 17 9615335 9615335 single base substitution C T exon_variant SKCM-US 17 9615335 9615335 single base substitution C T missense_variant H266Y 796C>T SKCM-US 17 9615335 9615335 single base substitution C T missense_variant H527Y 1579C>T SKCM-US 17 9615335 9615335 single base substitution C T missense_variant H736Y 2206C>T SKCM-US 17 9615335 9615335 single base substitution C T missense_variant H741Y 2221C>T SKCM-US 17 9615392 9615392 single base substitution C T exon_variant SKCM-US 17 9615392 9615392 single base substitution C T synonymous_variant L285L 853C>T SKCM-US 17 9615392 9615392 single base substitution C T synonymous_variant L546L 1636C>T SKCM-US 17 9615392 9615392 single base substitution C T synonymous_variant L755L 2263C>T SKCM-US 17 9615392 9615392 single base substitution C T synonymous_variant L760L 2278C>T SKCM-US 17 9615433 9615433 single base substitution C T exon_variant SKCM-US 17 9615433 9615433 single base substitution C T synonymous_variant L298L 894C>T SKCM-US 17 9615433 9615433 single base substitution C T synonymous_variant L559L 1677C>T SKCM-US 17 9615433 9615433 single base substitution C T synonymous_variant L768L 2304C>T SKCM-US 17 9615433 9615433 single base substitution C T synonymous_variant L773L 2319C>T SKCM-US 17 9631397 9631397 single base substitution C T exon_variant SKCM-US 17 9631397 9631397 single base substitution C T missense_variant S346F 1037C>T SKCM-US 17 9631397 9631397 single base substitution C T missense_variant S607F 1820C>T SKCM-US 17 9631397 9631397 single base substitution C T missense_variant S816F 2447C>T SKCM-US 17 9631397 9631397 single base substitution C T missense_variant S821F 2462C>T SKCM-US 17 9631401 9631401 single base substitution G A exon_variant SKCM-US 17 9631401 9631401 single base substitution G A synonymous_variant K347K 1041G>A SKCM-US 17 9631401 9631401 single base substitution G A synonymous_variant K608K 1824G>A SKCM-US 17 9631401 9631401 single base substitution G A synonymous_variant K817K 2451G>A SKCM-US 17 9631401 9631401 single base substitution G A synonymous_variant K822K 2466G>A SKCM-US 17 9631487 9631487 single base substitution C T exon_variant SKCM-US 17 9631487 9631487 single base substitution C T missense_variant S376L 1127C>T SKCM-US 17 9631487 9631487 single base substitution C T missense_variant S637L 1910C>T SKCM-US 17 9631487 9631487 single base substitution C T missense_variant S846L 2537C>T SKCM-US 17 9631487 9631487 single base substitution C T missense_variant S851L 2552C>T SKCM-US 17 9631771 9631771 single base substitution C T exon_variant SKCM-US 17 9631771 9631771 single base substitution C T stop_gained R471* 1411C>T SKCM-US 17 9631771 9631771 single base substitution C T stop_gained R732* 2194C>T SKCM-US 17 9631771 9631771 single base substitution C T stop_gained R941* 2821C>T SKCM-US 17 9631771 9631771 single base substitution C T stop_gained R946* 2836C>T SKCM-US 17 9631820 9631820 single base substitution G A exon_variant SKCM-US 17 9631820 9631820 single base substitution G A missense_variant G487E 1460G>A SKCM-US 17 9631820 9631820 single base substitution G A missense_variant G748E 2243G>A SKCM-US 17 9631820 9631820 single base substitution G A missense_variant G957E 2870G>A SKCM-US 17 9631820 9631820 single base substitution G A missense_variant G962E 2885G>A SKCM-US 17 9631945 9631945 single base substitution C T exon_variant SKCM-US 17 9631945 9631945 single base substitution C T missense_variant R1004W 3010C>T SKCM-US 17 9631945 9631945 single base substitution C T missense_variant R529W 1585C>T SKCM-US 17 9631945 9631945 single base substitution C T missense_variant R790W 2368C>T SKCM-US 17 9631945 9631945 single base substitution C T missense_variant R999W 2995C>T SKCM-US 17 9632019 9632019 single base substitution C G exon_variant SKCM-US 17 9632019 9632019 single base substitution C G synonymous_variant G1023G 3069C>G SKCM-US 17 9632019 9632019 single base substitution C G synonymous_variant G1028G 3084C>G SKCM-US 17 9632019 9632019 single base substitution C G synonymous_variant G553G 1659C>G SKCM-US 17 9632019 9632019 single base substitution C G synonymous_variant G814G 2442C>G SKCM-US 17 9632076 9632076 single base substitution C T exon_variant SKCM-US 17 9632076 9632076 single base substitution C T synonymous_variant I1042I 3126C>T SKCM-US 17 9632076 9632076 single base substitution C T synonymous_variant I1047I 3141C>T SKCM-US 17 9632076 9632076 single base substitution C T synonymous_variant I572I 1716C>T SKCM-US 17 9632076 9632076 single base substitution C T synonymous_variant I833I 2499C>T SKCM-US 17 9632212 9632212 single base substitution C T exon_variant SKCM-US 17 9632212 9632212 single base substitution C T missense_variant P1088S 3262C>T SKCM-US 17 9632212 9632212 single base substitution C T missense_variant P1093S 3277C>T SKCM-US 17 9632212 9632212 single base substitution C T missense_variant P618S 1852C>T SKCM-US 17 9632212 9632212 single base substitution C T missense_variant P879S 2635C>T SKCM-US 17 9632217 9632217 single base substitution G A exon_variant SKCM-US 17 9632217 9632217 single base substitution G A synonymous_variant G1089G 3267G>A SKCM-US 17 9632217 9632217 single base substitution G A synonymous_variant G1094G 3282G>A SKCM-US 17 9632217 9632217 single base substitution G A synonymous_variant G619G 1857G>A SKCM-US 17 9632217 9632217 single base substitution G A synonymous_variant G880G 2640G>A SKCM-US 17 9632257 9632257 single base substitution C T exon_variant SKCM-US 17 9632257 9632257 single base substitution C T missense_variant H1103Y 3307C>T SKCM-US 17 9632257 9632257 single base substitution C T missense_variant H1108Y 3322C>T SKCM-US 17 9632257 9632257 single base substitution C T missense_variant H633Y 1897C>T SKCM-US 17 9632257 9632257 single base substitution C T missense_variant H894Y 2680C>T SKCM-US 17 9632267 9632267 single base substitution C T exon_variant SKCM-US 17 9632267 9632267 single base substitution C T missense_variant S1106F 3317C>T SKCM-US 17 9632267 9632267 single base substitution C T missense_variant S1111F 3332C>T SKCM-US 17 9632267 9632267 single base substitution C T missense_variant S636F 1907C>T SKCM-US 17 9632267 9632267 single base substitution C T missense_variant S897F 2690C>T SKCM-US 17 9632275 9632275 single base substitution C T exon_variant SKCM-US 17 9632275 9632275 single base substitution C T stop_gained R1109* 3325C>T SKCM-US 17 9632275 9632275 single base substitution C T stop_gained R1114* 3340C>T SKCM-US 17 9632275 9632275 single base substitution C T stop_gained R639* 1915C>T SKCM-US 17 9632275 9632275 single base substitution C T stop_gained R900* 2698C>T STAD-US 17 9546391 9546391 single base substitution C G upstream_gene_variant STAD-US 17 9559771 9559771 single base substitution G A exon_variant STAD-US 17 9559771 9559771 single base substitution G A missense_variant A186T 556G>A STAD-US 17 9559771 9559771 single base substitution G A synonymous_variant T6T 18G>A STAD-US 17 9570015 9570015 single base substitution T C exon_variant STAD-US 17 9570015 9570015 single base substitution T C intron_variant STAD-US 17 9570015 9570015 single base substitution T C synonymous_variant A229A 687T>C STAD-US 17 9570015 9570015 single base substitution T C upstream_gene_variant STAD-US 17 9586272 9586272 single base substitution G A exon_variant STAD-US 17 9586272 9586272 single base substitution G A missense_variant S199N 596G>A STAD-US 17 9586272 9586272 single base substitution G A missense_variant S413N 1238G>A STAD-US 17 9596520 9596520 single base substitution G A exon_variant STAD-US 17 9596520 9596520 single base substitution G A missense_variant R263Q 788G>A STAD-US 17 9596520 9596520 single base substitution G A missense_variant R477Q 1430G>A STAD-US 17 9604465 9604465 single base substitution C T exon_variant STAD-US 17 9604465 9604465 single base substitution C T missense_variant A308V 923C>T STAD-US 17 9604465 9604465 single base substitution C T missense_variant A522V 1565C>T STAD-US 17 9604465 9604465 single base substitution C T missense_variant R12C 34C>T STAD-US 17 9615374 9615374 single base substitution T G exon_variant STAD-US 17 9615374 9615374 single base substitution T G missense_variant S279A 835T>G STAD-US 17 9615374 9615374 single base substitution T G missense_variant S540A 1618T>G STAD-US 17 9615374 9615374 single base substitution T G missense_variant S749A 2245T>G STAD-US 17 9615374 9615374 single base substitution T G missense_variant S754A 2260T>G STAD-US 17 9631302 9631302 single base substitution C T exon_variant STAD-US 17 9631302 9631302 single base substitution C T synonymous_variant G314G 942C>T STAD-US 17 9631302 9631302 single base substitution C T synonymous_variant G575G 1725C>T STAD-US 17 9631302 9631302 single base substitution C T synonymous_variant G784G 2352C>T STAD-US 17 9631302 9631302 single base substitution C T synonymous_variant G789G 2367C>T STAD-US 17 9631535 9631535 single base substitution G T exon_variant STAD-US 17 9631535 9631535 single base substitution G T missense_variant R392M 1175G>T STAD-US 17 9631535 9631535 single base substitution G T missense_variant R653M 1958G>T STAD-US 17 9631535 9631535 single base substitution G T missense_variant R862M 2585G>T STAD-US 17 9631535 9631535 single base substitution G T missense_variant R867M 2600G>T STAD-US 17 9631908 9631908 single base substitution C A exon_variant STAD-US 17 9631908 9631908 single base substitution C A synonymous_variant P516P 1548C>A STAD-US 17 9631908 9631908 single base substitution C A synonymous_variant P777P 2331C>A STAD-US 17 9631908 9631908 single base substitution C A synonymous_variant P986P 2958C>A STAD-US 17 9631908 9631908 single base substitution C A synonymous_variant P991P 2973C>A STAD-US 17 9631968 9631968 single base substitution T C exon_variant STAD-US 17 9631968 9631968 single base substitution T C synonymous_variant N1006N 3018T>C STAD-US 17 9631968 9631968 single base substitution T C synonymous_variant N1011N 3033T>C STAD-US 17 9631968 9631968 single base substitution T C synonymous_variant N536N 1608T>C STAD-US 17 9631968 9631968 single base substitution T C synonymous_variant N797N 2391T>C STAD-US 17 9632150 9632150 single base substitution T C exon_variant STAD-US 17 9632150 9632150 single base substitution T C missense_variant L1067P 3200T>C STAD-US 17 9632150 9632150 single base substitution T C missense_variant L1072P 3215T>C STAD-US 17 9632150 9632150 single base substitution T C missense_variant L597P 1790T>C STAD-US 17 9632150 9632150 single base substitution T C missense_variant L858P 2573T>C UCEC-US 17 9545080 9545080 single base substitution G T upstream_gene_variant UCEC-US 17 9546490 9546490 single base substitution G A upstream_gene_variant UCEC-US 17 9580183 9580183 single base substitution C T exon_variant UCEC-US 17 9580183 9580183 single base substitution C T synonymous_variant G104G 312C>T UCEC-US 17 9580183 9580183 single base substitution C T synonymous_variant G318G 954C>T UCEC-US 17 9590172 9590172 single base substitution G A exon_variant UCEC-US 17 9590172 9590172 single base substitution G A synonymous_variant Q219Q 657G>A UCEC-US 17 9590172 9590172 single base substitution G A synonymous_variant Q433Q 1299G>A UCEC-US 17 9596489 9596489 single base substitution G A exon_variant UCEC-US 17 9596489 9596489 single base substitution G A missense_variant A253T 757G>A UCEC-US 17 9596489 9596489 single base substitution G A missense_variant A467T 1399G>A UCEC-US 17 9596508 9596508 single base substitution C T exon_variant UCEC-US 17 9596508 9596508 single base substitution C T missense_variant P259L 776C>T UCEC-US 17 9596508 9596508 single base substitution C T missense_variant P473L 1418C>T UCEC-US 17 9603566 9603566 single base substitution G A missense_variant R298H 893G>A UCEC-US 17 9603566 9603566 single base substitution G A missense_variant R512H 1535G>A UCEC-US 17 9603566 9603566 single base substitution G A splice_region_variant UCEC-US 17 9603566 9603566 single base substitution G A upstream_gene_variant UCEC-US 17 9604628 9604628 single base substitution G A intron_variant UCEC-US 17 9604628 9604628 single base substitution G A missense_variant R66H 197G>A UCEC-US 17 9631382 9631382 single base substitution G T exon_variant UCEC-US 17 9631382 9631382 single base substitution G T missense_variant R341L 1022G>T UCEC-US 17 9631382 9631382 single base substitution G T missense_variant R602L 1805G>T UCEC-US 17 9631382 9631382 single base substitution G T missense_variant R811L 2432G>T UCEC-US 17 9631382 9631382 single base substitution G T missense_variant R816L 2447G>T UCEC-US 17 9631454 9631454 single base substitution G A exon_variant UCEC-US 17 9631454 9631454 single base substitution G A missense_variant R365Q 1094G>A UCEC-US 17 9631454 9631454 single base substitution G A missense_variant R626Q 1877G>A UCEC-US 17 9631454 9631454 single base substitution G A missense_variant R835Q 2504G>A UCEC-US 17 9631454 9631454 single base substitution G A missense_variant R840Q 2519G>A UCEC-US 17 9631549 9631549 single base substitution C A exon_variant UCEC-US 17 9631549 9631549 single base substitution C A missense_variant L397I 1189C>A UCEC-US 17 9631549 9631549 single base substitution C A missense_variant L658I 1972C>A UCEC-US 17 9631549 9631549 single base substitution C A missense_variant L867I 2599C>A UCEC-US 17 9631549 9631549 single base substitution C A missense_variant L872I 2614C>A UCEC-US 17 9631600 9631600 single base substitution G A exon_variant UCEC-US 17 9631600 9631600 single base substitution G A missense_variant G414R 1240G>A UCEC-US 17 9631600 9631600 single base substitution G A missense_variant G675R 2023G>A UCEC-US 17 9631600 9631600 single base substitution G A missense_variant G884R 2650G>A UCEC-US 17 9631600 9631600 single base substitution G A missense_variant G889R 2665G>A UCEC-US 17 9631817 9631817 single base substitution T C exon_variant UCEC-US 17 9631817 9631817 single base substitution T C missense_variant M486T 1457T>C UCEC-US 17 9631817 9631817 single base substitution T C missense_variant M747T 2240T>C UCEC-US 17 9631817 9631817 single base substitution T C missense_variant M956T 2867T>C UCEC-US 17 9631817 9631817 single base substitution T C missense_variant M961T 2882T>C UCEC-US 17 9632174 9632174 single base substitution C T exon_variant UCEC-US 17 9632174 9632174 single base substitution C T missense_variant P1075L 3224C>T UCEC-US 17 9632174 9632174 single base substitution C T missense_variant P1080L 3239C>T UCEC-US 17 9632174 9632174 single base substitution C T missense_variant P605L 1814C>T UCEC-US 17 9632174 9632174 single base substitution C T missense_variant P866L 2597C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESO-184 COSM1270094 c.1081T>G p.S361A Substitution - Missense 17:9680342-9680342 + Region-23 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + Region-13 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + TCGA-DA-A3F8-06 COSM3524115 c.1267G>A p.E423K Substitution - Missense 17:9686823-9686823 + TCGA-ER-A194-01 COSM3524118 c.2319C>T p.L773L Substitution - coding silent 17:9712116-9712116 + TCGA-FD-A3SN-01 COSM3796282 c.879C>T p.F293F Substitution - coding silent 17:9676791-9676791 + T578 COSM4739857 c.2594C>A p.S865* Substitution - Nonsense 17:9728212-9728212 + PT37 COSM5921287 c.3071C>T p.S1024F Substitution - Missense 17:9728689-9728689 + 1517_PT COSM5755184 c.1507G>A p.V503M Substitution - Missense 17:9700221-9700221 + Region-28 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + I2L-P19Tb-Tumor-Biopsy COSM5364115 c.2063C>T p.T688M Substitution - Missense 17:9710007-9710007 + PET052T COSM5824996 c.226G>T p.G76W Substitution - Missense 17:9645858-9645858 + HX13T COSM1611050 c.833+10T>C p.? Unknown 17:9674993-9674993 + NB-1056 COSM1288857 c.2276C>A p.S759Y Substitution - Missense 17:9712073-9712073 + SJRHB012_S COSM3737239 c.1536-2A>C p.? Unknown 17:9701117-9701117 + SJDOSTEOS015 COSM5760459 c.3128C>G p.P1043R Substitution - Missense 17:9728746-9728746 + YUGURT COSM5387791 c.2491G>A p.E831K Substitution - Missense 17:9728109-9728109 + Pat_48_A COSM5853908 c.2866delA p.K956fs*33 Deletion - Frameshift 17:9728484-9728484 + 91577 COSM330357 c.3067G>A p.V1023I Substitution - Missense 17:9728685-9728685 + TCGA-AX-A05Z-01 COSM986444 c.2519G>A p.R840Q Substitution - Missense 17:9728137-9728137 + TCGA-BL-A13J-01 COSM417893 c.2869G>T p.E957* Substitution - Nonsense 17:9728487-9728487 + 7T COSM3712494 c.3240G>A p.P1080P Substitution - coding silent 17:9728858-9728858 + Region-20 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + T1154 COSM4739852 c.346G>A p.V116M Substitution - Missense 17:9645978-9645978 + TCGA-AA-3663-01 COSM1387731 c.2253C>A p.S751S Substitution - coding silent 17:9712050-9712050 + CHC2115T COSM4793454 c.2335G>T p.G779* Substitution - Nonsense 17:9712132-9712132 + NPC15F COSM4995796 c.1690C>T p.P564S Substitution - Missense 17:9701379-9701379 + Region-30 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + 2492720 COSM5722547 c.1394C>T p.S465F Substitution - Missense 17:9693167-9693167 + TCGA-AN-A046-01 COSM5833488 c.3060_3061insC p.V1023fs*53 Insertion - Frameshift 17:9728678-9728679 + D-542MG COSM24324 c.2654G>C p.R885T Substitution - Missense 17:9728272-9728272 + PT41 COSM5924698 c.1411T>G p.L471V Substitution - Missense 17:9693184-9693184 + TCGA-CM-5861-01 COSM1387732 c.2354G>A p.R785H Substitution - Missense 17:9727972-9727972 + YUQUEST COSM5387786 c.795C>T p.F265F Substitution - coding silent 17:9674945-9674945 + Region-5 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + HCC4 COSM1611050 c.833+10T>C p.? Unknown 17:9674993-9674993 + TCGA-BR-8591-01 COSM4071180 c.1565C>T p.A522V Substitution - Missense 17:9701148-9701148 + TCGA-CG-5723-01 COSM4071177 c.687T>C p.A229A Substitution - coding silent 17:9666698-9666698 + ccRCC-105 COSM1664922 c.3220C>T p.R1074C Substitution - Missense 17:9728838-9728838 + TCGA-A8-A0A6-01 COSM3821133 c.810A>C p.L270L Substitution - coding silent 17:9674960-9674960 + T2940 COSM130120 c.617G>A p.R206Q Substitution - Missense 17:9656515-9656515 + Gp2D COSM4627573 c.274G>A p.G92S Substitution - Missense 17:9645906-9645906 + Pat_15_B COSM5853907 c.2060G>A p.S687N Substitution - Missense 17:9710004-9710004 + PTC-7C COSM4130905 c.411T>G p.A137A Substitution - coding silent 17:9646043-9646043 + EOPC-07_tumor COSM3716491 c.2473C>G p.P825A Substitution - Missense 17:9728091-9728091 + YUSIV COSM5387786 c.795C>T p.F265F Substitution - coding silent 17:9674945-9674945 + LIM2405 COSM3524124 c.3010C>T p.R1004W Substitution - Missense 17:9728628-9728628 + Region-14 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + TCGA-F4-6570-01 COSM1387726 c.758C>A p.P253H Substitution - Missense 17:9674908-9674908 + TCGA-JW-A5VL-01 COSM4847773 c.1468C>T p.L490F Substitution - Missense 17:9700182-9700182 + YUGATOR COSM5387788 c.1472G>A p.R491K Substitution - Missense 17:9700186-9700186 + Region-7 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + TCGA-B5-A11H-01 COSM986438 c.1418C>T p.P473L Substitution - Missense 17:9693191-9693191 + 61 COSM5740866 c.353G>A p.C118Y Substitution - Missense 17:9645985-9645985 + LIM1899 COSM4640144 c.1313G>A p.S438N Substitution - Missense 17:9686869-9686869 + CSCC-44-T COSM4480885 c.2463C>T p.S821S Substitution - coding silent 17:9728081-9728081 + TCGA-CD-A4MG-01 COSM1387733 c.2367C>T p.G789G Substitution - coding silent 17:9727985-9727985 + HCT15 COSM2882899 c.1690C>A p.P564T Substitution - Missense 17:9701379-9701379 + TCGA-B0-5098-01 COSM986450 c.2882T>C p.M961T Substitution - Missense 17:9728500-9728500 + TCGA-BP-4771-01 COSM3362432 c.1623C>A p.T541T Substitution - coding silent 17:9701206-9701206 + TCGA-AA-3492-01 COSM2882931 c.2611G>A p.A871T Substitution - Missense 17:9728229-9728229 + TCGA-EA-A3HT-01 COSM4843399 c.3178G>A p.E1060K Substitution - Missense 17:9728796-9728796 + pfg212T COSM4749766 c.2446C>T p.R816W Substitution - Missense 17:9728064-9728064 + TCGA-A6-6781-01 COSM3756066 c.1916C>T p.P639L Substitution - Missense 17:9701605-9701605 + HCC95 COSM3717814 c.1153G>A p.G385S Substitution - Missense 17:9682870-9682870 + TCGA-AX-A05S-01 COSM986446 c.2614C>A p.L872I Substitution - Missense 17:9728232-9728232 + CSCC-27-T COSM4483335 c.2690C>T p.P897L Substitution - Missense 17:9728308-9728308 + TCGA-DI-A0WH-01 COSM986432 c.1238G>A p.S413N Substitution - Missense 17:9682955-9682955 + PT48 COSM2882953 c.3322C>T p.H1108Y Substitution - Missense 17:9728940-9728940 + I2L-P19Tb-Tumor-Organoid COSM5364115 c.2063C>T p.T688M Substitution - Missense 17:9710007-9710007 + TCGA-AG-A002-01 COSM264618 c.2859G>T p.M953I Substitution - Missense 17:9728477-9728477 + TCGA-AM-5820-01 COSM3756067 c.3312A>G p.R1104R Substitution - coding silent 17:9728930-9728930 + pfg181T COSM4765040 c.2275_2276insA p.S759fs*7 Insertion - Frameshift 17:9712072-9712073 + TCGA-C5-A1BF-01 COSM4836697 c.1353G>T p.Q451H Substitution - Missense 17:9686909-9686909 + H2122 COSM1197261 c.1360G>A p.G454R Substitution - Missense 17:9693133-9693133 + TCGA-HW-8321-01 COSM3970468 c.2939A>T p.D980V Substitution - Missense 17:9728557-9728557 + PDA_071 COSM5001712 c.644C>T p.P215L Substitution - Missense 17:9666655-9666655 + CHC2115T COSM4793454 c.2335G>T p.G779* Substitution - Nonsense 17:9712132-9712132 + TCGA-EE-A29V-06 COSM3524112 c.1010C>T p.S337F Substitution - Missense 17:9680271-9680271 + 587220 COSM1232082 c.3212G>A p.R1071H Substitution - Missense 17:9728830-9728830 + HCA7 COSM2882876 c.1042G>A p.A348T Substitution - Missense 17:9680303-9680303 + Bulk-T COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + SNU-C2B COSM2882873 c.911G>T p.S304I Substitution - Missense 17:9676823-9676823 + TCGA-EE-A2MF-06 COSM4893350 c.3277C>T p.P1093S Substitution - Missense 17:9728895-9728895 + C113 COSM4441164 c.1322G>A p.R441H Substitution - Missense 17:9686878-9686878 + BD49T COSM5498251 c.1915C>T p.P639S Substitution - Missense 17:9701604-9701604 + TCGA-04-1347-01 COSM81899 c.2364G>T p.R788R Substitution - coding silent 17:9727982-9727982 + pfg143T COSM4749763 c.1826C>T p.P609L Substitution - Missense 17:9701515-9701515 + TCGA-BF-A1PZ-01 COSM4399142 c.2221C>T p.H741Y Substitution - Missense 17:9712018-9712018 + T3064 COSM4739855 c.2044T>C p.Y682H Substitution - Missense 17:9709988-9709988 + TCGA-AP-A0LP-01 COSM986440 c.1535G>A p.R512H Substitution - Missense 17:9700249-9700249 + Region-29 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + 1517_CLM COSM5755184 c.1507G>A p.V503M Substitution - Missense 17:9700221-9700221 + LC_S9 COSM1189406 c.3248G>A p.S1083N Substitution - Missense 17:9728866-9728866 + TCGA-AX-A06H-01 COSM986442 c.2447G>T p.R816L Substitution - Missense 17:9728065-9728065 + 93VU147T COSM4591544 c.2215G>C p.G739R Substitution - Missense 17:9712012-9712012 + TCGA-BR-6452-01 COSM986432 c.1238G>A p.S413N Substitution - Missense 17:9682955-9682955 + PD11762a COSM5779848 c.875G>A p.R292Q Substitution - Missense 17:9676787-9676787 + CSCC-32-T COSM4514961 c.992C>T p.P331L Substitution - Missense 17:9680253-9680253 + 19M COSM5579959 c.3216C>T p.L1072L Substitution - coding silent 17:9728834-9728834 + SCC-15 COSM4591544 c.2215G>C p.G739R Substitution - Missense 17:9712012-9712012 + TCGA-D3-A2JL-06 COSM3524128 c.3332C>T p.S1111F Substitution - Missense 17:9728950-9728950 + Region-16 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + tumor_4121361 COSM3356989 c.552C>T p.H184H Substitution - coding silent 17:9656450-9656450 + TCGA-AG-3999-01 COSM5070735 c.3360G>A p.E1120E Substitution - coding silent 17:9728978-9728978 + HCC95T COSM3717814 c.1153G>A p.G385S Substitution - Missense 17:9682870-9682870 + PT20_2 COSM5900822 c.1531G>A p.E511K Substitution - Missense 17:9700245-9700245 + TCGA-BR-4184-01 COSM271977 c.556G>A p.A186T Substitution - Missense 17:9656454-9656454 + WSU-HN12 COSM4591544 c.2215G>C p.G739R Substitution - Missense 17:9712012-9712012 + CSCC-16-T COSM4519664 c.1021G>A p.E341K Substitution - Missense 17:9680282-9680282 + J76_T COSM3958996 c.1311C>G p.L437L Substitution - coding silent 17:9686867-9686867 + 2492723 COSM5722546 c.887T>C p.V296A Substitution - Missense 17:9676799-9676799 + T2940 COSM4739854 c.1678G>A p.A560T Substitution - Missense 17:9701367-9701367 + TCGA-LL-A5YL-01 COSM3524118 c.2319C>T p.L773L Substitution - coding silent 17:9712116-9712116 + HCC22 COSM3717815 c.2808G>T p.M936I Substitution - Missense 17:9728426-9728426 + TCGA-GN-A26C-01 COSM3524116 c.1417C>T p.P473S Substitution - Missense 17:9693190-9693190 + TCGA-EI-6917-01 COSM2882942 c.2837G>A p.R946Q Substitution - Missense 17:9728455-9728455 + Region-10 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + HCC042T COSM4071180 c.1565C>T p.A522V Substitution - Missense 17:9701148-9701148 + Region-27 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + 587220 COSM1232081 c.2015A>G p.Y672C Substitution - Missense 17:9709959-9709959 + 0078_CRUK_PC_0078_T1_DNA COSM4420803 c.738T>G p.Y246* Substitution - Nonsense 17:9666749-9666749 + TCGA-ER-A194-01 COSM2882953 c.3322C>T p.H1108Y Substitution - Missense 17:9728940-9728940 + Pat_46_A COSM2882928 c.2462C>T p.S821F Substitution - Missense 17:9728080-9728080 + STC297 COSM5055933 c.636+1G>A p.? Unknown 17:9656535-9656535 + Pat_36_B COSM4441164 c.1322G>A p.R441H Substitution - Missense 17:9686878-9686878 + S02219 COSM5675644 c.3275T>C p.V1092A Substitution - Missense 17:9728893-9728893 + Region-18 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + TCGA-FS-A4FD-06 COSM3524127 c.3282G>A p.G1094G Substitution - coding silent 17:9728900-9728900 + CSCC-15-T COSM4478148 c.2214C>G p.L738L Substitution - coding silent 17:9712011-9712011 + TCGA-D1-A16Y-01 COSM986452 c.3239C>T p.P1080L Substitution - Missense 17:9728857-9728857 + TCGA-EE-A29E-06 COSM3890748 c.2885G>A p.G962E Substitution - Missense 17:9728503-9728503 + LS180 COSM2882944 c.2951G>A p.G984D Substitution - Missense 17:9728569-9728569 + S02256 COSM5681259 c.3066C>T p.P1022P Substitution - coding silent 17:9728684-9728684 + TCGA-B0-5077-01 COSM473608 c.591A>G p.V197V Substitution - coding silent 17:9656489-9656489 + LC_C33 COSM1189405 c.874C>T p.R292W Substitution - Missense 17:9676786-9676786 + TCGA-AY-6386-01 COSM3691973 c.432C>T p.T144T Substitution - coding silent 17:9646064-9646064 + NPC6F COSM4995797 c.3362C>G p.S1121C Substitution - Missense 17:9728980-9728980 + TCGA-AY-6197-01 COSM1387729 c.2209C>T p.R737W Substitution - Missense 17:9712006-9712006 + TCGA-C4-A0F6-01 COSM417894 c.529C>T p.Q177* Substitution - Nonsense 17:9656427-9656427 + UM-SCC-17B COSM4598859 c.1593G>A p.Q531Q Substitution - coding silent 17:9701176-9701176 + S00827 COSM5659525 c.1176C>A p.L392L Substitution - coding silent 17:9682893-9682893 + TCGA-EB-A4P0-01 COSM3524129 c.3340C>T p.R1114* Substitution - Nonsense 17:9728958-9728958 + TCGA-HU-A4G8-01 COSM4071187 c.3215T>C p.L1072P Substitution - Missense 17:9728833-9728833 + C086 COSM5541496 c.1177C>T p.H393Y Substitution - Missense 17:9682894-9682894 + SJRHB012 COSM3737239 c.1536-2A>C p.? Unknown 17:9701117-9701117 + 2492720 COSM5722546 c.887T>C p.V296A Substitution - Missense 17:9676799-9676799 + OSCC-GB_00620111 COSM4881434 c.2642G>T p.R881L Substitution - Missense 17:9728260-9728260 + TCGA-EA-A5ZD-01 COSM4828685 c.2210G>A p.R737Q Substitution - Missense 17:9712007-9712007 + TCGA-EK-A3GK-01 COSM4853718 c.2027C>G p.S676C Substitution - Missense 17:9709971-9709971 + LS174T COSM2882944 c.2951G>A p.G984D Substitution - Missense 17:9728569-9728569 + 49M COSM5593902 c.586C>T p.R196C Substitution - Missense 17:9656484-9656484 + YURAY COSM5387787 c.958C>T p.P320S Substitution - Missense 17:9676870-9676870 + T276 COSM4739853 c.801T>G p.C267W Substitution - Missense 17:9674951-9674951 + Region-11 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + TCGA-EB-A3XD-01 COSM3524122 c.2552C>T p.S851L Substitution - Missense 17:9728170-9728170 + Region-6 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + LUAD-CHTN-MAD06-00668 COSM359058 c.1166C>T p.S389F Substitution - Missense 17:9682883-9682883 + 401 COSM4429622 c.2586G>A p.K862K Substitution - coding silent 17:9728204-9728204 + SCC-25 COSM4591544 c.2215G>C p.G739R Substitution - Missense 17:9712012-9712012 + RK193_C01 COSM3742541 c.1997G>C p.G666A Substitution - Missense 17:9701686-9701686 + Pat_04_A COSM5722547 c.1394C>T p.S465F Substitution - Missense 17:9693167-9693167 + Region-25 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + TCGA-EB-A551-01 COSM3524121 c.2466G>A p.K822K Substitution - coding silent 17:9728084-9728084 + SNUH_G10_S1 COSM3756067 c.3312A>G p.R1104R Substitution - coding silent 17:9728930-9728930 + UM-SCC-17B COSM4591544 c.2215G>C p.G739R Substitution - Missense 17:9712012-9712012 + TCGA-AX-A063-01 COSM986448 c.2665G>A p.G889R Substitution - Missense 17:9728283-9728283 + TCGA-EE-A2GO-06 COSM3524111 c.1008G>A p.R336R Substitution - coding silent 17:9680269-9680269 + TCGA-EE-A2MR-06 COSM3524117 c.2278C>T p.L760L Substitution - coding silent 17:9712075-9712075 + TCGA-D3-A1QA-06 COSM3524125 c.3084C>G p.G1028G Substitution - coding silent 17:9728702-9728702 + Region-17 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + HCC2998 COSM2882913 c.2077C>T p.R693* Substitution - Nonsense 17:9710021-9710021 + TCGA-QB-A6FS-06 COSM3524124 c.3010C>T p.R1004W Substitution - Missense 17:9728628-9728628 + Region-15 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + STC297 COSM4591544 c.2215G>C p.G739R Substitution - Missense 17:9712012-9712012 + TCGA-F1-6177-01 COSM4071179 c.1430G>A p.R477Q Substitution - Missense 17:9693203-9693203 + ESCC_76 COSM5635113 c.2679C>G p.P893P Substitution - coding silent 17:9728297-9728297 + TCGA-A8-A07R-01 COSM5833487 c.2495_2496insG p.V833fs*27 Insertion - Frameshift 17:9728113-9728114 + U373 COSM5712769 c.298G>T p.A100S Substitution - Missense 17:9645930-9645930 + PTC-70C COSM4130904 c.349C>T p.Q117* Substitution - Nonsense 17:9645981-9645981 + TCGA-B0-5098-01 COSM1494065 c.1043C>T p.A348V Substitution - Missense 17:9680304-9680304 + TCGA-EK-A2RA-01 COSM4848408 c.1069C>G p.Q357E Substitution - Missense 17:9680330-9680330 + HCC118T COSM5813744 c.2222A>T p.H741L Substitution - Missense 17:9712019-9712019 + TCGA-29-1778-01 COSM1324690 c.2396C>T p.A799V Substitution - Missense 17:9728014-9728014 + TCGA-EE-A3JI-06 COSM3524110 c.925C>T p.L309L Substitution - coding silent 17:9676837-9676837 + TCGA-AA-3663-01 COSM1387734 c.3061delC p.V1023fs*4 Deletion - Frameshift 17:9728679-9728679 + I2L-P7-Tumor-Organoid COSM5364488 c.1662+6G>A p.? Unknown 17:9701251-9701251 + sysucc-809T COSM5468202 c.2363G>A p.R788Q Substitution - Missense 17:9727981-9727981 + TCGA-EK-A2RD-01 COSM4820251 c.1437C>A p.L479L Substitution - coding silent 17:9693210-9693210 + 113809 COSM95482 c.1540T>C p.F514L Substitution - Missense 17:9701123-9701123 + HN_62863 COSM130122 c.2501A>T p.E834V Substitution - Missense 17:9728119-9728119 + T3724 COSM4739856 c.2527C>T p.R843W Substitution - Missense 17:9728145-9728145 + TCGA-BR-4201-01 COSM4071183 c.2260T>G p.S754A Substitution - Missense 17:9712057-9712057 + EGC15 COSM5055934 c.1432C>T p.P478S Substitution - Missense 17:9693205-9693205 + LUAD-U6SJ7 COSM400191 c.3360G>C p.E1120D Substitution - Missense 17:9728978-9728978 + TCGA-AA-3854-01 COSM271977 c.556G>A p.A186T Substitution - Missense 17:9656454-9656454 + ESO-1145 COSM1270093 c.2178C>A p.T726T Substitution - coding silent 17:9711975-9711975 + P149 COSM1737331 c.1569G>C p.Q523H Substitution - Missense 17:9701152-9701152 + M030 COSM271977 c.556G>A p.A186T Substitution - Missense 17:9656454-9656454 + TCGA-CG-4305-01 COSM4071185 c.2973C>A p.P991P Substitution - coding silent 17:9728591-9728591 + Region-19 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + S02375 COSM5696483 c.1693C>T p.H565Y Substitution - Missense 17:9701382-9701382 + BD236T COSM5519456 c.2740delA p.K914fs*22 Deletion - Frameshift 17:9728358-9728358 + LUAD-RT-S01711 COSM380127 c.642G>T p.P214P Substitution - coding silent 17:9666653-9666653 + TCGA-F5-6814-01 COSM3422044 c.3289G>A p.A1097T Substitution - Missense 17:9728907-9728907 + 2492721 COSM5722547 c.1394C>T p.S465F Substitution - Missense 17:9693167-9693167 + PT51 COSM5938405 c.2186C>T p.S729F Substitution - Missense 17:9711983-9711983 + C086 COSM3524122 c.2552C>T p.S851L Substitution - Missense 17:9728170-9728170 + TCGA-G4-6302-01 COSM3691974 c.2011G>T p.A671S Substitution - Missense 17:9701700-9701700 + ICGC_MB78 COSM3764646 c.1148G>A p.R383H Substitution - Missense 17:9682865-9682865 + PT42 COSM5925957 c.2300C>T p.P767L Substitution - Missense 17:9712097-9712097 + TCGA-BH-A18G-01 COSM3821136 c.1599G>C p.Q533H Substitution - Missense 17:9701182-9701182 + TCGA-AY-6197-01 COSM1387728 c.2187C>T p.S729S Substitution - coding silent 17:9711984-9711984 + 2492722 COSM5722547 c.1394C>T p.S465F Substitution - Missense 17:9693167-9693167 + T1154 COSM986436 c.1399G>A p.A467T Substitution - Missense 17:9693172-9693172 + S00339 COSM5657330 c.123C>A p.P41P Substitution - coding silent 17:9645755-9645755 + TCGA-D3-A2JK-06 COSM3524114 c.1253C>T p.P418L Substitution - Missense 17:9686809-9686809 + TCGA-B5-A11E-01 COSM986436 c.1399G>A p.A467T Substitution - Missense 17:9693172-9693172 + 107539 COSM96270 c.1623C>G p.T541T Substitution - coding silent 17:9701206-9701206 + TCGA-AA-3672-01 COSM267736 c.2041T>C p.W681R Substitution - Missense 17:9709985-9709985 + Region-24 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + OSCC-GB_00070111 COSM3712494 c.3240G>A p.P1080P Substitution - coding silent 17:9728858-9728858 + CSCC-5-T COSM2882865 c.609T>C p.G203G Substitution - coding silent 17:9656507-9656507 + sysucc-1317T COSM2882931 c.2611G>A p.A871T Substitution - Missense 17:9728229-9728229 + YURAY COSM5387789 c.2053G>A p.D685N Substitution - Missense 17:9709997-9709997 + OSCC-GB_00800111 COSM4887929 c.2541G>T p.Q847H Substitution - Missense 17:9728159-9728159 + PT45 COSM5927808 c.2839C>T p.P947S Substitution - Missense 17:9728457-9728457 + SJRHB012_R COSM3737239 c.1536-2A>C p.? Unknown 17:9701117-9701117 + TCGA-DA-A1HV-06 COSM1387729 c.2209C>T p.R737W Substitution - Missense 17:9712006-9712006 + TCGA-GC-A3RC-01 COSM3796283 c.1644C>G p.F548L Substitution - Missense 17:9701227-9701227 + NB07C COSM1236498 c.806C>T p.S269F Substitution - Missense 17:9674956-9674956 + SNU-175 COSM2882904 c.1858G>A p.A620T Substitution - Missense 17:9701547-9701547 + TCGA-HU-A4GQ-01 COSM4071184 c.2600G>T p.R867M Substitution - Missense 17:9728218-9728218 + TCGA-GN-A266-06 COSM3524113 c.1172C>T p.S391F Substitution - Missense 17:9682889-9682889 + Region-2 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + TCGA-EE-A2MD-06 COSM3524126 c.3141C>T p.I1047I Substitution - coding silent 17:9728759-9728759 + Region-22 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + TCGA-DA-A3F8-06 COSM3524124 c.3010C>T p.R1004W Substitution - Missense 17:9728628-9728628 + 61 COSM5740867 c.2798T>C p.L933P Substitution - Missense 17:9728416-9728416 + TCGA-CG-4442-01 COSM4071186 c.3033T>C p.N1011N Substitution - coding silent 17:9728651-9728651 + Region-1 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + Region-12 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + TCGA-IH-A3EA-01 COSM2882928 c.2462C>T p.S821F Substitution - Missense 17:9728080-9728080 + TCGA-66-2768-01 COSM708482 c.1185G>C p.E395D Substitution - Missense 17:9682902-9682902 + TCGA-AZ-4315-01 COSM1387733 c.2367C>T p.G789G Substitution - coding silent 17:9727985-9727985 + BHY COSM4591544 c.2215G>C p.G739R Substitution - Missense 17:9712012-9712012 + HCT8 COSM2882899 c.1690C>A p.P564T Substitution - Missense 17:9701379-9701379 + Pat_06_A COSM5853905 c.797_798delTG p.S269fs*20 Deletion - Frameshift 17:9674947-9674948 + TCGA-Q1-A6DV-01 COSM4071180 c.1565C>T p.A522V Substitution - Missense 17:9701148-9701148 + Region-3 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + RMS80_ COSM4988760 c.2483C>G p.A828G Substitution - Missense 17:9728101-9728101 + Gp5D COSM4627573 c.274G>A p.G92S Substitution - Missense 17:9645906-9645906 + TCGA-D9-A6EC-06 COSM2882913 c.2077C>T p.R693* Substitution - Nonsense 17:9710021-9710021 + HCC4T COSM1611050 c.833+10T>C p.? Unknown 17:9674993-9674993 + 3N22-VS-3T22 COSM4979461 c.2122C>A p.Q708K Substitution - Missense 17:9710066-9710066 + 19M COSM5579958 c.2435C>T p.T812I Substitution - Missense 17:9728053-9728053 + 0060_CRUK_PC_0060_T1_DNA COSM5420694 c.505-6T>G p.? Unknown 17:9656397-9656397 + AOCS-120-3-6 COSM4139998 c.1603C>T p.H535Y Substitution - Missense 17:9701186-9701186 + XHDG39 COSM4770013 c.641C>T p.P214L Substitution - Missense 17:9666652-9666652 + Au4 COSM5605310 c.1242-1G>A p.? Unknown 17:9686797-9686797 + TARGET-30-PAPRMJ COSM1288856 c.2020C>T p.R674W Substitution - Missense 17:9709964-9709964 + UM-SCC-11B COSM4591544 c.2215G>C p.G739R Substitution - Missense 17:9712012-9712012 + Pat_06_A COSM5853906 c.1561C>T p.R521* Substitution - Nonsense 17:9701144-9701144 + 2492723 COSM5722547 c.1394C>T p.S465F Substitution - Missense 17:9693167-9693167 + HCC22T COSM3717815 c.2808G>T p.M936I Substitution - Missense 17:9728426-9728426 + Region-4 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + DLD1 COSM2882899 c.1690C>A p.P564T Substitution - Missense 17:9701379-9701379 + TCGA-B6-A0X1-01 COSM437889 c.1201_1202delCT p.F402fs*2 Deletion - Frameshift 17:9682918-9682919 + ESOSCC159T COSM1172538 c.2762A>T p.Q921L Substitution - Missense 17:9728380-9728380 + 2492721 COSM5722546 c.887T>C p.V296A Substitution - Missense 17:9676799-9676799 + PT45 COSM5927807 c.2840C>T p.P947L Substitution - Missense 17:9728458-9728458 + 2492722 COSM5722546 c.887T>C p.V296A Substitution - Missense 17:9676799-9676799 + SM-4AX83 COSM5953221 c.1686G>A p.K562K Substitution - coding silent 17:9701375-9701375 + TCGA-G4-6628-01 COSM1387724 c.550C>T p.H184Y Substitution - Missense 17:9656448-9656448 + HN_00076 COSM130121 c.1364C>T p.S455F Substitution - Missense 17:9693137-9693137 + TCGA-EA-A5FO-01 COSM4851844 c.3236C>A p.A1079D Substitution - Missense 17:9728854-9728854 + I2L-P10-Tumor-Organoid COSM5363934 c.649G>A p.A217T Substitution - Missense 17:9666660-9666660 + TCGA-DA-A1HV-06 COSM3524123 c.2836C>T p.R946* Substitution - Nonsense 17:9728454-9728454 + PT46 COSM5929792 c.2453C>T p.S818F Substitution - Missense 17:9728071-9728071 + OSCC-GB_01370111 COSM5955721 c.2171-5C>A p.? Unknown 17:9711963-9711963 + HN_62854 COSM130120 c.617G>A p.R206Q Substitution - Missense 17:9656515-9656515 + ESO-081 COSM1243728 c.824G>A p.R275H Substitution - Missense 17:9674974-9674974 + TCGA-AX-A060-01 COSM986450 c.2882T>C p.M961T Substitution - Missense 17:9728500-9728500 + TCGA-BS-A0UA-01 COSM986434 c.1299G>A p.Q433Q Substitution - coding silent 17:9686855-9686855 + TCGA-B5-A11E-01 COSM986430 c.954C>T p.G318G Substitution - coding silent 17:9676866-9676866 + Region-26 COSM5748941 c.2947C>T p.R983* Substitution - Nonsense 17:9728565-9728565 + 112313 COSM95483 c.2488G>A p.V830I Substitution - Missense 17:9728106-9728106 + YUTRAIN COSM5387790 c.2454C>T p.S818S Substitution - coding silent 17:9728072-9728072 + 8066443 COSM3773359 c.2078G>A p.R693Q Substitution - Missense 17:9710022-9710022 + CSCC-27-T COSM4483146 c.2679C>T p.P893P Substitution - coding silent 17:9728297-9728297 + TCGA-G5-6233-01 COSM3422043 c.2763G>C p.Q921H Substitution - Missense 17:9728381-9728381 + CoCM-1 COSM986452 c.3239C>T p.P1080L Substitution - Missense 17:9728857-9728857 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.709614;Hs.709621 17p13.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.Q433R c.1298A>G 17 9590171 CM A G Synonymous p.V197V c.591A>G 17 9559806 RCCC A T Missense p.E834V c.2501A>T 17 9631436 HNSC A T Missense p.R278W c.832A>T 17 9578299 LUAD ATTATTTA - IntronicDeletion . c.1241+544_1241+551delTATTTAAT 17 9586817 CLL C A Missense p.L872I c.2614C>A 17 9631549 UCEC C A Missense p.L931M c.2791C>A 17 9631726 CM C A Missense p.S759Y c.2276C>A 17 9615390 NB C A Synonymous p.P991P c.2973C>A 17 9631908 STAD C A Synonymous p.T541T c.1623C>A 17 9604523 RCCC C A Synonymous p.T726T c.2178C>A 17 9615292 ESCA C G Synonymous p.G1028G c.3084C>G 17 9632019 CM C G Synonymous p.V1016V c.3048C>G 17 9631983 HNSC CT - Frameshift p.F402Lfs*2 c.1203_1204delCT 17 9586235 BRCA C T Missense p.H1108Y c.3322C>T 17 9632257 CM C T Missense p.H481Y c.1441C>T 17 9596531 HNSC C T Missense p.H741Y c.2221C>T 17 9615335 CM C T Missense p.P1080L c.3239C>T 17 9632174 UCEC C T Missense p.P1093S c.3277C>T 17 9632212 CM C T Missense p.P418L c.1253C>T 17 9590126 CM C T Missense p.P473L c.1418C>T 17 9596508 UCEC C T Missense p.P473S c.1417C>T 17 9596507 CM C T Missense p.P764S c.2290C>T 17 9615404 CM C T Missense p.R1004W c.3010C>T 17 9631945 CM C T Missense p.R674W c.2020C>T 17 9613281 NB C T Missense p.R737W c.2209C>T 17 9615323 CM C T Missense p.S1111F c.3332C>T 17 9632267 CM C T Missense p.S269F c.806C>T 17 9578273 NB C T Missense p.S337F c.1010C>T 17 9583588 CM C T Missense p.S455F c.1364C>T 17 9596454 HNSC C T Missense p.S508F c.1523C>T 17 9603554 CM C T Missense p.S821F c.2462C>T 17 9631397 CM C T Missense p.T997I c.2990C>T 17 9631925 CM C T Nonsense p.Q177* c.529C>T 17 9559744 BLCA C T Nonsense p.R946* c.2836C>T 17 9631771 CM C T Synonymous p.F650F c.1950C>T 17 9604956 CM C T Synonymous p.H184H c.552C>T 17 9559767 DLBCL C T Synonymous p.I1047I c.3141C>T 17 9632076 CM C T Synonymous p.L309L c.925C>T 17 9580154 CM C T Synonymous p.L773L c.2319C>T 17 9615433 CM C T Synonymous p.P617P c.1851C>T 17 9604857 CM G A Missense p.A186T c.556G>A 17 9559771 COREAD G A Missense p.A620T c.1858G>A 17 9604864 CM G A Missense p.E423K c.1267G>A 17 9590140 CM G A Missense p.G889R c.2665G>A 17 9631600 UCEC G A Missense p.R206Q c.617G>A 17 9559832 HNSC G A Missense p.R383H c.1148G>A 17 9586182 MB G A Missense p.R477Q c.1430G>A 17 9596520 STAD G A Missense p.R512H c.1535G>A 17 9603566 UCEC G A Synonymous p.Q433Q c.1299G>A 17 9590172 UCEC G A Synonymous p.R336R c.1008G>A 17 9583586 CM G A Synonymous p.V306V c.918G>A 17 9580147 STAD G C Missense p.E395D c.1185G>C 17 9586219 LUSC GGG - InFrameDeletion p.G994delG c.2980_2982delGGG 17 9631914 RCCC G T Missense p.R816L c.2447G>T 17 9631382 UCEC G T Nonsense p.E957* c.2869G>T 17 9631804 BLCA G T Synonymous p.R710R c.2130G>T 17 9613391 LUAD G T Synonymous p.R788R c.2364G>T 17 9631299 OV T C Missense p.M961T c.2882T>C 17 9631817 UCEC T C Missense p.S803P c.2407T>C 17 9631342 CM T G Missense p.S361A c.1081T>G 17 9583659 ESCA T G Missense p.S754A c.2260T>G 17 9615374 STAD