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 2 128471416 128471416 + Missense_Mutation SNP C C G TCGA-OR-A5L1-01A-11D-A30A-10 TCGA-OR-A5L1-10A-01D-A30A-10 g.chr2:128471416C>G c.3049G>C c.(3049-3051)Gat>Cat p.D1017H ACC 2 128477187 128477187 + Silent SNP G G T TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr2:128477187G>T c.2412C>A c.(2410-2412)ggC>ggA p.G804G BLCA 2 128464101 128464101 + Missense_Mutation SNP C C G TCGA-GD-A2C5-01A-12D-A17V-08 TCGA-GD-A2C5-10A-01D-A17V-08 g.chr2:128464101C>G c.3807G>C c.(3805-3807)caG>caC p.Q1269H BLCA 2 128466262 128466262 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr2:128466262C>T c.3770G>A c.(3769-3771)cGa>cAa p.R1257Q BLCA 2 128467099 128467099 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr2:128467099C>T c.3530G>A c.(3529-3531)cGg>cAg p.R1177Q BLCA 2 128467130 128467130 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr2:128467130G>A c.3499C>T c.(3499-3501)Cct>Tct p.P1167S BLCA 2 128467402 128467402 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr2:128467402C>T c.3337G>A c.(3337-3339)Gag>Aag p.E1113K BLCA 2 128471200 128471200 + Frame_Shift_Del DEL G G - TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 g.chr2:128471200delG c.3265delC c.(3265-3267)cggfs p.R1089fs BLCA 2 128471204 128471204 + Silent SNP G G A TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr2:128471204G>A c.3261C>T c.(3259-3261)ttC>ttT p.F1087F BLCA 2 128471493 128471493 + Missense_Mutation SNP C C A TCGA-UY-A9PD-01A-11D-A38G-08 TCGA-UY-A9PD-10A-01D-A38J-08 g.chr2:128471493C>A c.2972G>T c.(2971-2973)cGg>cTg p.R991L BLCA 2 128477159 128477159 + Missense_Mutation SNP G G A TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr2:128477159G>A c.2440C>T c.(2440-2442)Cac>Tac p.H814Y BLCA 2 128477268 128477268 + Missense_Mutation SNP C C A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 g.chr2:128477268C>A c.2331G>T c.(2329-2331)atG>atT p.M777I BLCA 2 128477565 128477565 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 g.chr2:128477565C>T c.2034G>A c.(2032-2034)caG>caA p.Q678Q BLCA 2 128477643 128477643 + Missense_Mutation SNP G G T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr2:128477643G>T c.1956C>A c.(1954-1956)ttC>ttA p.F652L BLCA 2 128480200 128480200 + Missense_Mutation SNP G G C TCGA-2F-A9KT-01A-11D-A38G-08 TCGA-2F-A9KT-10A-01D-A38J-08 g.chr2:128480200G>C c.1483C>G c.(1483-1485)Cct>Gct p.P495A BLCA 2 128481983 128481983 + Missense_Mutation SNP G G T TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr2:128481983G>T c.1120C>A c.(1120-1122)Cac>Aac p.H374N BLCA 2 128482710 128482710 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr2:128482710G>C c.931C>G c.(931-933)Ctc>Gtc p.L311V BLCA 2 128520696 128520696 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 g.chr2:128520696C>G c.664G>C c.(664-666)Gat>Cat p.D222H BLCA 2 128522769 128522769 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr2:128522769G>A c.453C>T c.(451-453)ttC>ttT p.F151F BRCA 2 128463946 128463946 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 g.chr2:128463946G>C c.3962C>G c.(3961-3963)tCt>tGt p.S1321C BRCA 2 128463985 128463985 + Missense_Mutation SNP C C T TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 g.chr2:128463985C>T c.3923G>A c.(3922-3924)cGg>cAg p.R1308Q BRCA 2 128466383 128466383 + Missense_Mutation SNP A A G TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr2:128466383A>G c.3649T>C c.(3649-3651)Tcc>Ccc p.S1217P BRCA 2 128471176 128471176 + Nonsense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr2:128471176G>A c.3289C>T c.(3289-3291)Cga>Tga p.R1097* BRCA 2 128471323 128471323 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:128471323C>T c.3142G>A c.(3142-3144)Ggg>Agg p.G1048R BRCA 2 128471382 128471382 + Missense_Mutation SNP C C T TCGA-D8-A27H-01A-11D-A16D-09 TCGA-D8-A27H-10A-01D-A16D-09 g.chr2:128471382C>T c.3083G>A c.(3082-3084)cGg>cAg p.R1028Q BRCA 2 128471406 128471406 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr2:128471406T>G c.3059A>C c.(3058-3060)cAc>cCc p.H1020P BRCA 2 128476996 128476996 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 g.chr2:128476996G>C c.2603C>G c.(2602-2604)tCt>tGt p.S868C BRCA 2 128477068 128477068 + Nonsense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:128477068G>C c.2531C>G c.(2530-2532)tCa>tGa p.S844* BRCA 2 128477151 128477151 + Silent SNP T T C TCGA-AO-A12E-01A-11D-A10M-09 TCGA-AO-A12E-10A-01D-A10M-09 g.chr2:128477151T>C c.2448A>G c.(2446-2448)ccA>ccG p.P816P BRCA 2 128522166 128522166 + Intron SNP C C T TCGA-E2-A15H-01A-11D-A12B-09 TCGA-E2-A15H-10A-01D-A12B-09 g.chr2:128522166C>T BRCA 2 128522231 128522231 + Intron SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr2:128522231T>G BRCA 2 128526530 128526530 + Missense_Mutation SNP G G A TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 g.chr2:128526530G>A c.250C>T c.(250-252)Cct>Tct p.P84S CESC 2 128464072 128464072 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr2:128464072G>C c.3836C>G c.(3835-3837)tCc>tGc p.S1279C CESC 2 128471326 128471326 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr2:128471326G>A c.3139C>T c.(3139-3141)Cga>Tga p.R1047* CESC 2 128474785 128474785 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 g.chr2:128474785C>T c.2813G>A c.(2812-2814)gGa>gAa p.G938E CESC 2 128479457 128479457 + Missense_Mutation SNP C C G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr2:128479457C>G c.1624G>C c.(1624-1626)Gag>Cag p.E542Q CESC 2 128481925 128481925 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr2:128481925C>T c.1178G>A c.(1177-1179)gGc>gAc p.G393D CHOL 2 128471295 128471295 + Missense_Mutation SNP T T G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr2:128471295T>G c.3170A>C c.(3169-3171)gAt>gCt p.D1057A CHOL 2 128520647 128520647 + Missense_Mutation SNP C C T TCGA-W5-AA38-01A-11D-A417-09 TCGA-W5-AA38-10A-01D-A41A-09 g.chr2:128520647C>T c.713G>A c.(712-714)aGa>aAa p.R238K CHOL 2 128522061 128522061 + Intron SNP C C T TCGA-W5-AA2H-01A-31D-A417-09 TCGA-W5-AA2H-10A-01D-A41A-09 g.chr2:128522061C>T CHOL 2 128522166 128522166 + Intron SNP C C T TCGA-W5-AA2U-01A-11D-A417-09 TCGA-W5-AA2U-10A-01D-A41A-09 g.chr2:128522166C>T COAD 2 128463985 128463985 + Missense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr2:128463985C>T c.3923G>A c.(3922-3924)cGg>cAg p.R1308Q COAD 2 128464040 128464041 + Frame_Shift_Del DEL TG TG - TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr2:128464040_128464041delTG c.3867_3868delCA c.(3865-3870)cacagafs p.HR1289fs COAD 2 128464064 128464064 + Missense_Mutation SNP C C T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr2:128464064C>T c.3844G>A c.(3844-3846)Gga>Aga p.G1282R COAD 2 128464117 128464117 + Frame_Shift_Del DEL C C - TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr2:128464117delC c.3791delG c.(3790-3792)ggcfs p.G1264fs COAD 2 128466334 128466334 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr2:128466334C>T c.3698G>A c.(3697-3699)cGc>cAc p.R1233H COAD 2 128467309 128467309 + Nonsense_Mutation SNP G G A TCGA-AA-3851-01A-01W-0995-10 TCGA-AA-3851-10A-01W-0995-10 g.chr2:128467309G>A c.3430C>T c.(3430-3432)Cga>Tga p.R1144* COAD 2 128471199 128471199 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr2:128471199C>T c.3266G>A c.(3265-3267)cGg>cAg p.R1089Q COAD 2 128476860 128476860 + Silent SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr2:128476860C>T c.2739G>A c.(2737-2739)ggG>ggA p.G913G COAD 2 128476955 128476955 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr2:128476955C>T c.2644G>A c.(2644-2646)Gga>Aga p.G882R COAD 2 128476975 128476975 + Missense_Mutation SNP C C A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr2:128476975C>A c.2624G>T c.(2623-2625)gGt>gTt p.G875V COAD 2 128477304 128477304 + Silent SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr2:128477304T>C c.2295A>G c.(2293-2295)caA>caG p.Q765Q COAD 2 128479502 128479502 + Nonsense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:128479502C>A c.1579G>T c.(1579-1581)Gaa>Taa p.E527* COAD 2 128482008 128482008 + Silent SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr2:128482008C>T c.1095G>A c.(1093-1095)aaG>aaA p.K365K COAD 2 128482658 128482658 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr2:128482658C>T c.983G>A c.(982-984)cGa>cAa p.R328Q COAD 2 128482768 128482768 + Silent SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:128482768T>G c.873A>C c.(871-873)gtA>gtC p.V291V COAD 2 128520713 128520713 + Missense_Mutation SNP T T G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:128520713T>G c.647A>C c.(646-648)aAa>aCa p.K216T COAD 2 128522061 128522061 + Intron SNP C C A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr2:128522061C>A COAD 2 128522141 128522142 + Intron INS - - A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr2:128522141_128522142insA COAD 2 128522180 128522180 + Intron SNP T T C TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr2:128522180T>C COAD 2 128526526 128526526 + Missense_Mutation SNP T T C TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr2:128526526T>C c.254A>G c.(253-255)gAt>gGt p.D85G COAD 2 128526575 128526575 + Splice_Site SNP T T C TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr2:128526575T>C c.205A>G c.(205-207)Aac>Gac p.N69D COADREAD 2 128463917 128463917 + Missense_Mutation SNP C C T TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chr2:128463917C>T c.3991G>A c.(3991-3993)Ggt>Agt p.G1331S COADREAD 2 128463985 128463985 + Missense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr2:128463985C>T c.3923G>A c.(3922-3924)cGg>cAg p.R1308Q COADREAD 2 128464040 128464041 + Frame_Shift_Del DEL TG TG - TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr2:128464040_128464041delTG c.3867_3868delCA c.(3865-3870)cacagafs p.HR1289fs COADREAD 2 128464064 128464064 + Missense_Mutation SNP C C T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr2:128464064C>T c.3844G>A c.(3844-3846)Gga>Aga p.G1282R COADREAD 2 128464117 128464117 + Frame_Shift_Del DEL C C - TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr2:128464117delC c.3791delG c.(3790-3792)ggcfs p.G1264fs COADREAD 2 128466334 128466334 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr2:128466334C>T c.3698G>A c.(3697-3699)cGc>cAc p.R1233H COADREAD 2 128466446 128466446 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:128466446G>A c.3586C>T c.(3586-3588)Cgt>Tgt p.R1196C COADREAD 2 128467309 128467309 + Nonsense_Mutation SNP G G A TCGA-AA-3851-01A-01W-0995-10 TCGA-AA-3851-10A-01W-0995-10 g.chr2:128467309G>A c.3430C>T c.(3430-3432)Cga>Tga p.R1144* COADREAD 2 128471176 128471176 + Nonsense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:128471176G>A c.3289C>T c.(3289-3291)Cga>Tga p.R1097* COADREAD 2 128471199 128471199 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr2:128471199C>T c.3266G>A c.(3265-3267)cGg>cAg p.R1089Q COADREAD 2 128476860 128476860 + Silent SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr2:128476860C>T c.2739G>A c.(2737-2739)ggG>ggA p.G913G COADREAD 2 128476955 128476955 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr2:128476955C>T c.2644G>A c.(2644-2646)Gga>Aga p.G882R COADREAD 2 128476975 128476975 + Missense_Mutation SNP C C A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr2:128476975C>A c.2624G>T c.(2623-2625)gGt>gTt p.G875V COADREAD 2 128477304 128477304 + Silent SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr2:128477304T>C c.2295A>G c.(2293-2295)caA>caG p.Q765Q COADREAD 2 128477435 128477435 + Missense_Mutation SNP G G A TCGA-AF-6655-01A-11D-1826-10 TCGA-AF-6655-10A-01D-1826-10 g.chr2:128477435G>A c.2164C>T c.(2164-2166)Ccg>Tcg p.P722S COADREAD 2 128479502 128479502 + Nonsense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:128479502C>A c.1579G>T c.(1579-1581)Gaa>Taa p.E527* COADREAD 2 128482008 128482008 + Silent SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr2:128482008C>T c.1095G>A c.(1093-1095)aaG>aaA p.K365K COADREAD 2 128482644 128482644 + Missense_Mutation SNP C C T TCGA-F5-6812-01A-11D-1826-10 TCGA-F5-6812-10A-01D-1826-10 g.chr2:128482644C>T c.997G>A c.(997-999)Gaa>Aaa p.E333K COADREAD 2 128482658 128482658 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr2:128482658C>T c.983G>A c.(982-984)cGa>cAa p.R328Q COADREAD 2 128482768 128482768 + Silent SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:128482768T>G c.873A>C c.(871-873)gtA>gtC p.V291V COADREAD 2 128520690 128520690 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr2:128520690C>T c.670G>A c.(670-672)Ggc>Agc p.G224S COADREAD 2 128520713 128520713 + Missense_Mutation SNP T T G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:128520713T>G c.647A>C c.(646-648)aAa>aCa p.K216T COADREAD 2 128522061 128522061 + Intron SNP C C A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr2:128522061C>A COADREAD 2 128522141 128522142 + Intron INS - - A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr2:128522141_128522142insA COADREAD 2 128522180 128522180 + Intron SNP T T C TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr2:128522180T>C COADREAD 2 128526526 128526526 + Missense_Mutation SNP T T C TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr2:128526526T>C c.254A>G c.(253-255)gAt>gGt p.D85G COADREAD 2 128526575 128526575 + Splice_Site SNP T T C TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr2:128526575T>C c.205A>G c.(205-207)Aac>Gac p.N69D COADREAD 2 128528479 128528479 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:128528479A>C c.77T>G c.(76-78)tTt>tGt p.F26C DLBC 2 128528508 128528508 + Silent SNP C C T TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr2:128528508C>T c.48G>A c.(46-48)agG>agA p.R16R ESCA 2 128471464 128471464 + Missense_Mutation SNP C C T TCGA-LN-A4A9-01A-11D-A28B-09 TCGA-LN-A4A9-10A-01D-A28E-09 g.chr2:128471464C>T c.3001G>A c.(3001-3003)Gat>Aat p.D1001N ESCA 2 128476957 128476957 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 g.chr2:128476957G>T c.2642C>A c.(2641-2643)cCc>cAc p.P881H ESCA 2 128477225 128477225 + Frame_Shift_Del DEL C C - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 g.chr2:128477225delC c.2374delG c.(2374-2376)gagfs p.E792fs ESCA 2 128477228 128477228 + Frame_Shift_Del DEL G G - TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 g.chr2:128477228delG c.2371delC c.(2371-2373)cggfs p.R791fs ESCA 2 128477433 128477433 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 g.chr2:128477433C>T c.2166G>A c.(2164-2166)ccG>ccA p.P722P ESCA 2 128477673 128477673 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 g.chr2:128477673C>T c.1926G>A c.(1924-1926)ctG>ctA p.L642L ESCA 2 128477915 128477915 + Missense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 g.chr2:128477915C>G c.1684G>C c.(1684-1686)Gaa>Caa p.E562Q ESCA 2 128520663 128520663 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 g.chr2:128520663G>A c.697C>T c.(697-699)Cgt>Tgt p.R233C ESCA 2 128522385 128522385 + Intron SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 g.chr2:128522385G>T GBM 2 128471476 128471476 + Missense_Mutation SNP T T C TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 g.chr2:128471476T>C c.2989A>G c.(2989-2991)Agg>Ggg p.R997G GBM 2 128484320 128484320 + Nonsense_Mutation SNP C C T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 g.chr2:128484320C>T c.756G>A c.(754-756)tgG>tgA p.W252* GBMLGG 2 128463958 128463961 + Frame_Shift_Del DEL CTCC CTCC - TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 g.chr2:128463958_128463961delCTCC c.3947_3950delGGAG c.(3946-3951)gggagtfs p.GS1316fs GBMLGG 2 128471476 128471476 + Missense_Mutation SNP T T C TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 g.chr2:128471476T>C c.2989A>G c.(2989-2991)Agg>Ggg p.R997G GBMLGG 2 128476856 128476856 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:128476856G>A c.2743C>T c.(2743-2745)Cgg>Tgg p.R915W GBMLGG 2 128477431 128477431 + Missense_Mutation SNP G G A TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 g.chr2:128477431G>A c.2168C>T c.(2167-2169)cCt>cTt p.P723L GBMLGG 2 128480179 128480179 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:128480179C>T c.1504G>A c.(1504-1506)Gct>Act p.A502T GBMLGG 2 128484320 128484320 + Nonsense_Mutation SNP C C T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 g.chr2:128484320C>T c.756G>A c.(754-756)tgG>tgA p.W252* GBMLGG 2 128522748 128522748 + Splice_Site SNP C C G TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 g.chr2:128522748C>G c.474G>C c.(472-474)caG>caC p.Q158H HNSC 2 128466386 128466386 + Missense_Mutation SNP G G A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 g.chr2:128466386G>A c.3646C>T c.(3646-3648)Cgc>Tgc p.R1216C HNSC 2 128471226 128471226 + Missense_Mutation SNP C C T TCGA-MT-A67G-01A-11D-A30E-08 TCGA-MT-A67G-10A-01D-A30H-08 g.chr2:128471226C>T c.3239G>A c.(3238-3240)cGc>cAc p.R1080H HNSC 2 128471233 128471233 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 g.chr2:128471233C>T c.3232G>A c.(3232-3234)Gaa>Aaa p.E1078K HNSC 2 128477018 128477018 + Missense_Mutation SNP G G T TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 g.chr2:128477018G>T c.2581C>A c.(2581-2583)Cag>Aag p.Q861K HNSC 2 128477169 128477169 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 g.chr2:128477169C>T c.2430G>A c.(2428-2430)atG>atA p.M810I HNSC 2 128480839 128480839 + Missense_Mutation SNP C C T TCGA-HD-7832-01A-11D-2129-08 TCGA-HD-7832-10A-01D-2129-08 g.chr2:128480839C>T c.1279G>A c.(1279-1281)Gga>Aga p.G427R HNSC 2 128480908 128480908 + Nonsense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 g.chr2:128480908G>A c.1210C>T c.(1210-1212)Cga>Tga p.R404* HNSC 2 128481927 128481927 + Silent SNP T T A TCGA-TN-A7HJ-01A-12D-A34J-08 TCGA-TN-A7HJ-10A-01D-A34M-08 g.chr2:128481927T>A c.1176A>T c.(1174-1176)tcA>tcT p.S392S HNSC 2 128482013 128482013 + Missense_Mutation SNP C C G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 g.chr2:128482013C>G c.1090G>C c.(1090-1092)Gag>Cag p.E364Q HNSC 2 128482686 128482686 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr2:128482686T>C c.955A>G c.(955-957)Aac>Gac p.N319D KIPAN 2 128471384 128471384 + Silent SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 g.chr2:128471384G>A c.3081C>T c.(3079-3081)caC>caT p.H1027H KIPAN 2 128477700 128477700 + Silent SNP T T A TCGA-CZ-5468-01A-01D-1501-10 TCGA-CZ-5468-11A-01D-1501-10 g.chr2:128477700T>A c.1899A>T c.(1897-1899)ggA>ggT p.G633G KIPAN 2 128480195 128480195 + Frame_Shift_Del DEL A A - TCGA-CJ-5677-01A-11D-1534-10 TCGA-CJ-5677-11A-01D-1534-10 g.chr2:128480195delA c.1488delT c.(1486-1488)tatfs p.Y496fs KIPAN 2 128481936 128481937 + Frame_Shift_Ins INS - - AT TCGA-B0-5119-01A-02D-1421-08 TCGA-B0-5119-11A-01D-1421-08 g.chr2:128481936_128481937insAT c.1166_1167insAT c.(1165-1167)attfs p.I389fs KIPAN 2 128482691 128482691 + Missense_Mutation SNP A A C TCGA-SX-A7SS-01A-11D-A35Z-10 TCGA-SX-A7SS-10A-01D-A35Z-10 g.chr2:128482691A>C c.950T>G c.(949-951)aTc>aGc p.I317S KIPAN 2 128484249 128484249 + Frame_Shift_Del DEL T T - TCGA-BQ-5876-01A-11D-1589-08 TCGA-BQ-5876-11A-01D-1589-08 g.chr2:128484249delT c.827delA c.(826-828)aagfs p.K276fs KIPAN 2 128526506 128526506 + Splice_Site SNP C C A TCGA-BQ-7048-01A-11D-1961-08 TCGA-BQ-7048-11A-01D-1961-08 g.chr2:128526506C>A c.e3+1 KIPAN 2 128528415 128528415 + Silent SNP T T A TCGA-2K-A9WE-01A-11D-A382-10 TCGA-2K-A9WE-10A-01D-A385-10 g.chr2:128528415T>A c.141A>T c.(139-141)cgA>cgT p.R47R KIRC 2 128471384 128471384 + Silent SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 g.chr2:128471384G>A c.3081C>T c.(3079-3081)caC>caT p.H1027H KIRC 2 128477700 128477700 + Silent SNP T T A TCGA-CZ-5468-01A-01D-1501-10 TCGA-CZ-5468-11A-01D-1501-10 g.chr2:128477700T>A c.1899A>T c.(1897-1899)ggA>ggT p.G633G KIRC 2 128480195 128480195 + Frame_Shift_Del DEL A A - TCGA-CJ-5677-01A-11D-1534-10 TCGA-CJ-5677-11A-01D-1534-10 g.chr2:128480195delA c.1488delT c.(1486-1488)tatfs p.Y496fs KIRC 2 128481936 128481937 + Frame_Shift_Ins INS - - AT TCGA-B0-5119-01A-02D-1421-08 TCGA-B0-5119-11A-01D-1421-08 g.chr2:128481936_128481937insAT c.1166_1167insAT c.(1165-1167)attfs p.I389fs KIRP 2 128482691 128482691 + Missense_Mutation SNP A A C TCGA-SX-A7SS-01A-11D-A35Z-10 TCGA-SX-A7SS-10A-01D-A35Z-10 g.chr2:128482691A>C c.950T>G c.(949-951)aTc>aGc p.I317S KIRP 2 128484249 128484249 + Frame_Shift_Del DEL T T - TCGA-BQ-5876-01A-11D-1589-08 TCGA-BQ-5876-11A-01D-1589-08 g.chr2:128484249delT c.827delA c.(826-828)aagfs p.K276fs KIRP 2 128526506 128526506 + Splice_Site SNP C C A TCGA-BQ-7048-01A-11D-1961-08 TCGA-BQ-7048-11A-01D-1961-08 g.chr2:128526506C>A c.e3+1 KIRP 2 128528415 128528415 + Silent SNP T T A TCGA-2K-A9WE-01A-11D-A382-10 TCGA-2K-A9WE-10A-01D-A385-10 g.chr2:128528415T>A c.141A>T c.(139-141)cgA>cgT p.R47R LGG 2 128463958 128463961 + Frame_Shift_Del DEL CTCC CTCC - TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 g.chr2:128463958_128463961delCTCC c.3947_3950delGGAG c.(3946-3951)gggagtfs p.GS1316fs LGG 2 128476856 128476856 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:128476856G>A c.2743C>T c.(2743-2745)Cgg>Tgg p.R915W LGG 2 128477431 128477431 + Missense_Mutation SNP G G A TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 g.chr2:128477431G>A c.2168C>T c.(2167-2169)cCt>cTt p.P723L LGG 2 128480179 128480179 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:128480179C>T c.1504G>A c.(1504-1506)Gct>Act p.A502T LGG 2 128522748 128522748 + Splice_Site SNP C C G TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 g.chr2:128522748C>G c.474G>C c.(472-474)caG>caC p.Q158H LIHC 2 128466455 128466455 + Nonsense_Mutation SNP C C A TCGA-DD-AACD-01A-11D-A40R-10 TCGA-DD-AACD-10A-01D-A40U-10 g.chr2:128466455C>A c.3577G>T c.(3577-3579)Gaa>Taa p.E1193* LIHC 2 128471170 128471170 + Missense_Mutation SNP G G A TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr2:128471170G>A c.3295C>T c.(3295-3297)Cgc>Tgc p.R1099C LIHC 2 128474768 128474768 + Missense_Mutation SNP G G T TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr2:128474768G>T c.2830C>A c.(2830-2832)Ccc>Acc p.P944T LIHC 2 128474768 128474768 + Missense_Mutation SNP G G T TCGA-DD-A1EF-01A-11D-A12Z-10 TCGA-DD-A1EF-10A-01D-A12Z-10 g.chr2:128474768G>T c.2830C>A c.(2830-2832)Ccc>Acc p.P944T LIHC 2 128477145 128477145 + Silent SNP T T C TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr2:128477145T>C c.2454A>G c.(2452-2454)ggA>ggG p.G818G LIHC 2 128477498 128477498 + Missense_Mutation SNP G G T TCGA-BW-A5NP-01A-11D-A27I-10 TCGA-BW-A5NP-10A-01D-A27I-10 g.chr2:128477498G>T c.2101C>A c.(2101-2103)Cct>Act p.P701T LIHC 2 128480544 128480544 + Missense_Mutation SNP G G T TCGA-5C-A9VG-01A-11D-A36X-10 TCGA-5C-A9VG-10A-01D-A370-10 g.chr2:128480544G>T c.1366C>A c.(1366-1368)Caa>Aaa p.Q456K LIHC 2 128480841 128480841 + Missense_Mutation SNP T T C TCGA-DD-A39Z-01A-11D-A20W-10 TCGA-DD-A39Z-11A-21D-A20W-10 g.chr2:128480841T>C c.1277A>G c.(1276-1278)gAt>gGt p.D426G LIHC 2 128522284 128522336 + Intron DEL GTGCAGAAAGTTTCCCAGAAACTGACAGAGCCCATGCATCTCTGCACCCAGAA GTGCAGAAAGTTTCCCAGAAACTGACAGAGCCCATGCATCTCTGCACCCAGAA - TCGA-BC-A10W-01A-11D-A12Z-10 TCGA-BC-A10W-11A-11D-A12Z-10 g.chr2:128522284_128522336delGTGCAGAAAGTTTCCCAGAAACTGACAGAGCCCATGCATCTCTGCACCCAGAA LUAD 2 128466269 128466269 + Missense_Mutation SNP C C T TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr2:128466269C>T c.3763G>A c.(3763-3765)Gaa>Aaa p.E1255K LUAD 2 128466446 128466446 + Missense_Mutation SNP G G A TCGA-NJ-A4YG-01A-22D-A25L-08 TCGA-NJ-A4YG-10A-01D-A25L-08 g.chr2:128466446G>A c.3586C>T c.(3586-3588)Cgt>Tgt p.R1196C LUAD 2 128467294 128467294 + Silent SNP T T G TCGA-91-6848-01A-11D-1945-08 TCGA-91-6848-11A-01D-1945-08 g.chr2:128467294T>G c.3445A>C c.(3445-3447)Aga>Cga p.R1149R LUAD 2 128471188 128471188 + Missense_Mutation SNP C C A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr2:128471188C>A c.3277G>T c.(3277-3279)Gac>Tac p.D1093Y LUAD 2 128471546 128471546 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr2:128471546C>T c.2919G>A c.(2917-2919)agG>agA p.R973R LUAD 2 128476971 128476971 + Silent SNP G G A TCGA-17-Z052-01A-01W-0747-08 TCGA-17-Z052-11A-01W-0747-08 g.chr2:128476971G>A c.2628C>T c.(2626-2628)ggC>ggT p.G876G LUAD 2 128477061 128477061 + Silent SNP C C T TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 g.chr2:128477061C>T c.2538G>A c.(2536-2538)ctG>ctA p.L846L LUAD 2 128477085 128477085 + Silent SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 g.chr2:128477085C>A c.2514G>T c.(2512-2514)ggG>ggT p.G838G LUAD 2 128477639 128477639 + Missense_Mutation SNP C C G TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr2:128477639C>G c.1960G>C c.(1960-1962)Gga>Cga p.G654R LUAD 2 128479467 128479467 + Silent SNP T T C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 g.chr2:128479467T>C c.1614A>G c.(1612-1614)caA>caG p.Q538Q LUAD 2 128480604 128480604 + Missense_Mutation SNP T T A TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr2:128480604T>A c.1306A>T c.(1306-1308)Aat>Tat p.N436Y LUAD 2 128481960 128481960 + Silent SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 g.chr2:128481960C>A c.1143G>T c.(1141-1143)ctG>ctT p.L381L LUAD 2 128482635 128482635 + Splice_Site SNP C C A TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr2:128482635C>A c.1006G>T c.(1006-1008)Gct>Tct p.A336S LUAD 2 128482706 128482706 + Missense_Mutation SNP C C A TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr2:128482706C>A c.935G>T c.(934-936)tGt>tTt p.C312F LUAD 2 128522332 128522332 + Intron SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr2:128522332C>A LUAD 2 128522374 128522374 + Intron SNP T T A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chr2:128522374T>A LUAD 2 128525865 128525865 + Silent SNP C C A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr2:128525865C>A c.276G>T c.(274-276)ctG>ctT p.L92L LUSC 2 128466368 128466368 + Missense_Mutation SNP C C T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 g.chr2:128466368C>T c.3664G>A c.(3664-3666)Ggc>Agc p.G1222S LUSC 2 128471191 128471191 + Nonsense_Mutation SNP C C A TCGA-66-2763-01A-01D-1522-08 TCGA-66-2763-11A-01D-1522-08 g.chr2:128471191C>A c.3274G>T c.(3274-3276)Gag>Tag p.E1092* LUSC 2 128471306 128471306 + Silent SNP C C A TCGA-51-4079-01A-01D-1458-08 TCGA-51-4079-11A-01D-1458-08 g.chr2:128471306C>A c.3159G>T c.(3157-3159)ccG>ccT p.P1053P LUSC 2 128471314 128471314 + Missense_Mutation SNP C C A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 g.chr2:128471314C>A c.3151G>T c.(3151-3153)Ggg>Tgg p.G1051W LUSC 2 128477377 128477377 + Missense_Mutation SNP T T A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr2:128477377T>A c.2222A>T c.(2221-2223)cAg>cTg p.Q741L LUSC 2 128477651 128477651 + Missense_Mutation SNP G G T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr2:128477651G>T c.1948C>A c.(1948-1950)Caa>Aaa p.Q650K LUSC 2 128522490 128522490 + Missense_Mutation SNP C C A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 g.chr2:128522490C>A c.538G>T c.(538-540)Gac>Tac p.D180Y LUSC 2 128526523 128526523 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr2:128526523G>A c.257C>T c.(256-258)gCa>gTa p.A86V OV 2 128463979 128463980 + Frame_Shift_Ins INS - - CACTTCT TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 g.chr2:128463979_128463980insCACTTCT c.3928_3929insAGAAGTG c.(3928-3930)ggcfs p.G1310fs OV 2 128525786 128525786 + Nonsense_Mutation SNP T T A TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 g.chr2:128525786T>A c.355A>T c.(355-357)Aag>Tag p.K119* OV 2 128528402 128528402 + Missense_Mutation SNP C C G TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 g.chr2:128528402C>G c.154G>C c.(154-156)Gtg>Ctg p.V52L PAAD 2 128466262 128466262 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 g.chr2:128466262C>T c.3770G>A c.(3769-3771)cGa>cAa p.R1257Q PAAD 2 128471362 128471362 + Nonsense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:128471362G>A c.3103C>T c.(3103-3105)Cga>Tga p.R1035* PAAD 2 128471486 128471486 + Silent SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 g.chr2:128471486G>A c.2979C>T c.(2977-2979)ggC>ggT p.G993G PAAD 2 128476956 128476956 + Frame_Shift_Del DEL G G - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 g.chr2:128476956delG c.2643delC c.(2641-2643)cccfs p.P881fs PAAD 2 128495607 128495607 + Intron SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:128495607C>T PAAD 2 128528546 128528546 + Nonsense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:128528546C>A c.10G>T c.(10-12)Gaa>Taa p.E4* PAAD 2 128528552 128528552 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:128528552C>T c.4G>A c.(4-6)Gct>Act p.A2T PCPG 2 128522429 128522429 + Missense_Mutation SNP G G A TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 g.chr2:128522429G>A c.599C>T c.(598-600)gCa>gTa p.A200V PRAD 2 128467314 128467314 + Missense_Mutation SNP G G A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 g.chr2:128467314G>A c.3425C>T c.(3424-3426)gCg>gTg p.A1142V PRAD 2 128474753 128474753 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 g.chr2:128474753C>T c.2845G>A c.(2845-2847)Gga>Aga p.G949R PRAD 2 128476956 128476956 + Silent SNP G G A TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 g.chr2:128476956G>A c.2643C>T c.(2641-2643)ccC>ccT p.P881P PRAD 2 128477088 128477088 + Missense_Mutation SNP C C A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 g.chr2:128477088C>A c.2511G>T c.(2509-2511)caG>caT p.Q837H PRAD 2 128477099 128477099 + Nonsense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:128477099G>A c.2500C>T c.(2500-2502)Cga>Tga p.R834* PRAD 2 128480231 128480231 + Missense_Mutation SNP C C A TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 g.chr2:128480231C>A c.1452G>T c.(1450-1452)aaG>aaT p.K484N PRAD 2 128528552 128528552 + Missense_Mutation SNP C C G TCGA-XK-AAIV-01A-11D-A41K-08 TCGA-XK-AAIV-10A-01D-A41N-08 g.chr2:128528552C>G c.4G>C c.(4-6)Gct>Cct p.A2P READ 2 128463917 128463917 + Missense_Mutation SNP C C T TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chr2:128463917C>T c.3991G>A c.(3991-3993)Ggt>Agt p.G1331S READ 2 128466446 128466446 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:128466446G>A c.3586C>T c.(3586-3588)Cgt>Tgt p.R1196C READ 2 128471176 128471176 + Nonsense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:128471176G>A c.3289C>T c.(3289-3291)Cga>Tga p.R1097* READ 2 128477435 128477435 + Missense_Mutation SNP G G A TCGA-AF-6655-01A-11D-1826-10 TCGA-AF-6655-10A-01D-1826-10 g.chr2:128477435G>A c.2164C>T c.(2164-2166)Ccg>Tcg p.P722S READ 2 128482644 128482644 + Missense_Mutation SNP C C T TCGA-F5-6812-01A-11D-1826-10 TCGA-F5-6812-10A-01D-1826-10 g.chr2:128482644C>T c.997G>A c.(997-999)Gaa>Aaa p.E333K READ 2 128520690 128520690 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr2:128520690C>T c.670G>A c.(670-672)Ggc>Agc p.G224S READ 2 128528479 128528479 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:128528479A>C c.77T>G c.(76-78)tTt>tGt p.F26C SKCM 2 128463994 128463994 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:128463994C>T c.3914G>A c.(3913-3915)cGa>cAa p.R1305Q SKCM 2 128466316 128466316 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr2:128466316G>A c.3716C>T c.(3715-3717)cCa>cTa p.P1239L SKCM 2 128466428 128466428 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr2:128466428C>T c.3604G>A c.(3604-3606)Gat>Aat p.D1202N SKCM 2 128467156 128467156 + Splice_Site SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr2:128467156C>T c.3473G>A c.(3472-3474)gGa>gAa p.G1158E SKCM 2 128467267 128467267 + Splice_Site SNP C C A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr2:128467267C>A c.3472G>T c.(3472-3474)Gga>Tga p.G1158* SKCM 2 128467377 128467377 + Missense_Mutation SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr2:128467377C>T c.3362G>A c.(3361-3363)aGg>aAg p.R1121K SKCM 2 128467387 128467387 + Missense_Mutation SNP G G A TCGA-DA-A1I0-06A-11D-A20D-08 TCGA-DA-A1I0-10B-01D-A20D-08 g.chr2:128467387G>A c.3352C>T c.(3352-3354)Ccc>Tcc p.P1118S SKCM 2 128471199 128471199 + Missense_Mutation SNP C C A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr2:128471199C>A c.3266G>T c.(3265-3267)cGg>cTg p.R1089L SKCM 2 128471302 128471302 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr2:128471302G>A c.3163C>T c.(3163-3165)Ccc>Tcc p.P1055S SKCM 2 128471308 128471308 + Missense_Mutation SNP G G A TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr2:128471308G>A c.3157C>T c.(3157-3159)Ccg>Tcg p.P1053S SKCM 2 128471308 128471308 + Missense_Mutation SNP G G A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 g.chr2:128471308G>A c.3157C>T c.(3157-3159)Ccg>Tcg p.P1053S SKCM 2 128471435 128471435 + Silent SNP G G T TCGA-FS-A1ZP-06A-11D-A197-08 TCGA-FS-A1ZP-10A-01D-A199-08 g.chr2:128471435G>T c.3030C>A c.(3028-3030)ccC>ccA p.P1010P SKCM 2 128471452 128471452 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr2:128471452G>A c.3013C>T c.(3013-3015)Cct>Tct p.P1005S SKCM 2 128474766 128474766 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr2:128474766G>A c.2832C>T c.(2830-2832)ccC>ccT p.P944P SKCM 2 128476849 128476849 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr2:128476849G>A c.2750C>T c.(2749-2751)cCc>cTc p.P917L SKCM 2 128477054 128477054 + Missense_Mutation SNP G G A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr2:128477054G>A c.2545C>T c.(2545-2547)Ccc>Tcc p.P849S SKCM 2 128477162 128477162 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:128477162G>A c.2437C>T c.(2437-2439)Cct>Tct p.P813S SKCM 2 128477219 128477219 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr2:128477219G>A c.2380C>T c.(2380-2382)Cag>Tag p.Q794* SKCM 2 128477301 128477301 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr2:128477301C>T c.2298G>A c.(2296-2298)ggG>ggA p.G766G SKCM 2 128477302 128477302 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr2:128477302C>T c.2297G>A c.(2296-2298)gGg>gAg p.G766E SKCM 2 128477426 128477426 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chr2:128477426G>A c.2173C>T c.(2173-2175)Cct>Tct p.P725S SKCM 2 128477498 128477498 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:128477498G>A c.2101C>T c.(2101-2103)Cct>Tct p.P701S SKCM 2 128479482 128479482 + Missense_Mutation SNP C C G TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr2:128479482C>G c.1599G>C c.(1597-1599)gaG>gaC p.E533D SKCM 2 128480907 128480907 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr2:128480907C>T c.1211G>A c.(1210-1212)cGa>cAa p.R404Q SKCM 2 128520638 128520638 + Missense_Mutation SNP C C T TCGA-GN-A268-06A-11D-A196-08 TCGA-GN-A268-10A-01D-A198-08 g.chr2:128520638C>T c.722G>A c.(721-723)cGa>cAa p.R241Q SKCM 2 128520663 128520663 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr2:128520663G>A c.697C>T c.(697-699)Cgt>Tgt p.R233C SKCM 2 128522370 128522370 + Intron SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr2:128522370G>A SKCM 2 128522423 128522423 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr2:128522423T>G c.605A>C c.(604-606)aAg>aCg p.K202T SKCM 2 128525862 128525862 + Silent SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr2:128525862G>A c.279C>T c.(277-279)gtC>gtT p.V93V SKCM 2 128528457 128528457 + Silent SNP T T G TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr2:128528457T>G c.99A>C c.(97-99)gcA>gcC p.A33A

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 2 128463993 128463993 single base substitution T A synonymous_variant R1305R 3915A>T BLCA-CN 2 128480281 128480281 single base substitution C T downstream_gene_variant BLCA-CN 2 128480281 128480281 single base substitution C T missense_variant E468K 1402G>A BLCA-CN 2 128528572 128528572 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant BLCA-CN 2 128528572 128528572 single base substitution T A intron_variant BLCA-US 2 128464101 128464101 single base substitution C G missense_variant Q1269H 3807G>C BLCA-US 2 128467402 128467402 single base substitution C T missense_variant E1113K 3337G>A BLCA-US 2 128471200 128471200 deletion of <=200bp G - frameshift_variant R1089 BLCA-US 2 128477268 128477268 single base substitution C A missense_variant M777I 2331G>T BLCA-US 2 128482710 128482710 single base substitution G C downstream_gene_variant BLCA-US 2 128482710 128482710 single base substitution G C missense_variant L311V 931C>G BLCA-US 2 128520696 128520696 single base substitution C G 3_prime_UTR_variant BLCA-US 2 128520696 128520696 single base substitution C G missense_variant D144H 430G>C BLCA-US 2 128520696 128520696 single base substitution C G missense_variant D222H 664G>C BOCA-FR 2 128479431 128479431 insertion of <=200bp - TAGT downstream_gene_variant BOCA-FR 2 128479431 128479431 insertion of <=200bp - TAGT frameshift_variant Y550YT? BOCA-FR 2 128556658 128556658 single base substitution C G intron_variant BRCA-EU 2 128454045 128454045 single base substitution C G downstream_gene_variant BRCA-EU 2 128456121 128456121 single base substitution C T downstream_gene_variant BRCA-EU 2 128457067 128457067 single base substitution G A downstream_gene_variant BRCA-EU 2 128457522 128457522 single base substitution A T downstream_gene_variant BRCA-EU 2 128458382 128458382 single base substitution G T downstream_gene_variant BRCA-EU 2 128459416 128459416 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 128459991 128459991 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 128461012 128461012 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 128461994 128461994 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 2 128462577 128462577 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 128463133 128463133 single base substitution A C 3_prime_UTR_variant BRCA-EU 2 128464112 128464112 single base substitution C G missense_variant G1266R 3796G>C BRCA-EU 2 128465524 128465524 single base substitution C A intron_variant BRCA-EU 2 128467072 128467072 single base substitution C A missense_variant R1186I 3557G>T BRCA-EU 2 128468721 128468721 single base substitution G A intron_variant BRCA-EU 2 128469174 128469174 single base substitution C T intron_variant BRCA-EU 2 128472621 128472621 single base substitution C T intron_variant BRCA-EU 2 128474128 128474128 single base substitution C A intron_variant BRCA-EU 2 128476008 128476008 single base substitution T A intron_variant BRCA-EU 2 128477725 128477725 single base substitution T G missense_variant Q625P 1874A>C BRCA-EU 2 128479028 128479028 deletion of <=200bp A - intron_variant BRCA-EU 2 128479523 128479523 single base substitution C T downstream_gene_variant BRCA-EU 2 128479523 128479523 single base substitution C T missense_variant E520K 1558G>A BRCA-EU 2 128479966 128479966 single base substitution G A downstream_gene_variant BRCA-EU 2 128479966 128479966 single base substitution G A intron_variant BRCA-EU 2 128480254 128480254 single base substitution C A downstream_gene_variant BRCA-EU 2 128480254 128480254 single base substitution C A stop_gained G477* 1429G>T BRCA-EU 2 128482598 128482598 single base substitution A T downstream_gene_variant BRCA-EU 2 128482598 128482598 single base substitution A T intron_variant BRCA-EU 2 128482806 128482806 insertion of <=200bp - A downstream_gene_variant BRCA-EU 2 128482806 128482806 insertion of <=200bp - A intron_variant BRCA-EU 2 128485887 128485887 insertion of <=200bp - A intron_variant BRCA-EU 2 128486249 128486249 single base substitution G A intron_variant BRCA-EU 2 128487694 128487694 single base substitution G A intron_variant BRCA-EU 2 128489087 128489087 single base substitution G C downstream_gene_variant BRCA-EU 2 128489087 128489087 single base substitution G C intron_variant BRCA-EU 2 128492472 128492472 single base substitution A C downstream_gene_variant BRCA-EU 2 128492472 128492472 single base substitution A C intron_variant BRCA-EU 2 128492767 128492767 deletion of <=200bp G - downstream_gene_variant BRCA-EU 2 128492767 128492767 deletion of <=200bp G - intron_variant BRCA-EU 2 128496154 128496154 single base substitution A T intron_variant BRCA-EU 2 128498698 128498698 single base substitution T C intron_variant BRCA-EU 2 128498849 128498849 single base substitution G A intron_variant BRCA-EU 2 128502007 128502007 single base substitution G A intron_variant BRCA-EU 2 128502253 128502253 single base substitution G A intron_variant BRCA-EU 2 128504865 128504865 single base substitution C G intron_variant BRCA-EU 2 128506042 128506042 single base substitution G A intron_variant BRCA-EU 2 128507503 128507503 single base substitution G A intron_variant BRCA-EU 2 128507783 128507783 single base substitution G C intron_variant BRCA-EU 2 128508493 128508493 single base substitution A G intron_variant BRCA-EU 2 128510473 128510473 single base substitution A G intron_variant BRCA-EU 2 128510482 128510482 single base substitution T C intron_variant BRCA-EU 2 128511715 128511715 single base substitution T A intron_variant BRCA-EU 2 128512940 128512940 single base substitution C T intron_variant BRCA-EU 2 128513201 128513201 insertion of <=200bp - T intron_variant BRCA-EU 2 128514299 128514299 single base substitution A T intron_variant BRCA-EU 2 128516595 128516595 single base substitution G C downstream_gene_variant BRCA-EU 2 128516595 128516595 single base substitution G C intron_variant BRCA-EU 2 128517254 128517254 single base substitution G A downstream_gene_variant BRCA-EU 2 128517254 128517254 single base substitution G A intron_variant BRCA-EU 2 128517459 128517459 single base substitution A T downstream_gene_variant BRCA-EU 2 128517459 128517459 single base substitution A T intron_variant BRCA-EU 2 128519124 128519124 single base substitution C G downstream_gene_variant BRCA-EU 2 128519124 128519124 single base substitution C G intron_variant BRCA-EU 2 128521414 128521414 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 128521414 128521414 single base substitution C G downstream_gene_variant BRCA-EU 2 128521414 128521414 single base substitution C G intron_variant BRCA-EU 2 128523638 128523638 single base substitution T A downstream_gene_variant BRCA-EU 2 128523638 128523638 single base substitution T A intron_variant BRCA-EU 2 128525370 128525370 single base substitution G A downstream_gene_variant BRCA-EU 2 128525370 128525370 single base substitution G A intron_variant BRCA-EU 2 128525586 128525586 single base substitution C T downstream_gene_variant BRCA-EU 2 128525586 128525586 single base substitution C T intron_variant BRCA-EU 2 128526593 128526593 deletion of <=200bp A - intron_variant BRCA-EU 2 128527193 128527193 insertion of <=200bp - T intron_variant BRCA-EU 2 128529505 128529505 single base substitution T A intron_variant BRCA-EU 2 128530953 128530953 single base substitution G T intron_variant BRCA-EU 2 128532189 128532189 single base substitution G A intron_variant BRCA-EU 2 128534742 128534742 single base substitution G A intron_variant BRCA-EU 2 128535776 128535776 single base substitution G T intron_variant BRCA-EU 2 128536328 128536328 insertion of <=200bp - A intron_variant BRCA-EU 2 128536475 128536475 deletion of <=200bp A - intron_variant BRCA-EU 2 128536912 128536912 single base substitution C A intron_variant BRCA-EU 2 128537040 128537040 deletion of <=200bp A - intron_variant BRCA-EU 2 128537571 128537571 single base substitution G A intron_variant BRCA-EU 2 128538325 128538325 single base substitution C A intron_variant BRCA-EU 2 128538765 128538765 single base substitution T G intron_variant BRCA-EU 2 128540230 128540230 single base substitution A G intron_variant BRCA-EU 2 128540566 128540569 deletion of <=200bp GAGT - intron_variant BRCA-EU 2 128541245 128541245 single base substitution C G intron_variant BRCA-EU 2 128541364 128541364 single base substitution G A intron_variant BRCA-EU 2 128541962 128541962 single base substitution C G intron_variant BRCA-EU 2 128542940 128542940 single base substitution T C intron_variant BRCA-EU 2 128544132 128544132 single base substitution C A intron_variant BRCA-EU 2 128544184 128544184 single base substitution G A intron_variant BRCA-EU 2 128544215 128544215 single base substitution G A intron_variant BRCA-EU 2 128544281 128544281 single base substitution T A intron_variant BRCA-EU 2 128545116 128545116 single base substitution A C intron_variant BRCA-EU 2 128547470 128547470 single base substitution T C intron_variant BRCA-EU 2 128548733 128548733 deletion of <=200bp A - intron_variant BRCA-EU 2 128549740 128549740 single base substitution G A intron_variant BRCA-EU 2 128549746 128549746 single base substitution C T intron_variant BRCA-EU 2 128550535 128550535 single base substitution G C intron_variant BRCA-EU 2 128550742 128550742 single base substitution T C intron_variant BRCA-EU 2 128554601 128554601 single base substitution C G intron_variant BRCA-EU 2 128555107 128555107 single base substitution T C intron_variant BRCA-EU 2 128555843 128555843 single base substitution G A intron_variant BRCA-EU 2 128556272 128556272 single base substitution A G intron_variant BRCA-EU 2 128556902 128556902 insertion of <=200bp - A intron_variant BRCA-EU 2 128558994 128558994 single base substitution G C intron_variant BRCA-EU 2 128559050 128559050 single base substitution G T intron_variant BRCA-EU 2 128559647 128559647 single base substitution C T intron_variant BRCA-EU 2 128560391 128560391 deletion of <=200bp A - intron_variant BRCA-EU 2 128561908 128561908 single base substitution G C intron_variant BRCA-EU 2 128562059 128562059 single base substitution G C intron_variant BRCA-EU 2 128562185 128562185 single base substitution G A intron_variant BRCA-EU 2 128564080 128564080 single base substitution C A intron_variant BRCA-EU 2 128565026 128565026 single base substitution G T intron_variant BRCA-EU 2 128566074 128566074 single base substitution G A intron_variant BRCA-EU 2 128566726 128566726 single base substitution G A intron_variant BRCA-EU 2 128568405 128568405 single base substitution C T 5_prime_UTR_variant BRCA-EU 2 128568405 128568405 single base substitution C T intron_variant BRCA-EU 2 128568752 128568752 single base substitution A C 5_prime_UTR_variant BRCA-EU 2 128568752 128568752 single base substitution A C upstream_gene_variant BRCA-EU 2 128572218 128572218 single base substitution G C upstream_gene_variant BRCA-FR 2 128461652 128461652 single base substitution C G 3_prime_UTR_variant BRCA-FR 2 128486249 128486249 single base substitution G A intron_variant BRCA-FR 2 128498849 128498849 single base substitution G A intron_variant BRCA-FR 2 128515784 128515784 single base substitution C T downstream_gene_variant BRCA-FR 2 128515784 128515784 single base substitution C T intron_variant BRCA-FR 2 128525370 128525370 single base substitution G A downstream_gene_variant BRCA-FR 2 128525370 128525370 single base substitution G A intron_variant BRCA-FR 2 128525586 128525586 single base substitution C T downstream_gene_variant BRCA-FR 2 128525586 128525586 single base substitution C T intron_variant BRCA-FR 2 128529505 128529505 single base substitution T A intron_variant BRCA-FR 2 128540230 128540230 single base substitution A G intron_variant BRCA-FR 2 128541245 128541245 single base substitution C G intron_variant BRCA-FR 2 128541364 128541364 single base substitution G A intron_variant BRCA-FR 2 128555843 128555843 single base substitution G A intron_variant BRCA-FR 2 128562059 128562059 single base substitution G C intron_variant BRCA-UK 2 128456121 128456121 single base substitution C T downstream_gene_variant BRCA-UK 2 128460013 128460013 single base substitution G C 3_prime_UTR_variant BRCA-UK 2 128477613 128477613 single base substitution G A synonymous_variant P662P 1986C>T BRCA-UK 2 128520637 128520637 single base substitution T G 3_prime_UTR_variant BRCA-UK 2 128520637 128520637 single base substitution T G splice_region_variant BRCA-UK 2 128540390 128540390 single base substitution T C intron_variant BRCA-UK 2 128544184 128544184 single base substitution G A intron_variant BRCA-UK 2 128544281 128544281 single base substitution T A intron_variant BRCA-US 2 128463946 128463946 single base substitution G C missense_variant S1321C 3962C>G BRCA-US 2 128463985 128463985 single base substitution C T missense_variant R1308Q 3923G>A BRCA-US 2 128466383 128466383 single base substitution A G missense_variant S1217P 3649T>C BRCA-US 2 128471176 128471176 single base substitution G A stop_gained R1097* 3289C>T BRCA-US 2 128471323 128471323 single base substitution C T missense_variant G1048R 3142G>A BRCA-US 2 128471382 128471382 single base substitution C T missense_variant R1028Q 3083G>A BRCA-US 2 128471406 128471406 single base substitution T G missense_variant H1020P 3059A>C BRCA-US 2 128476996 128476996 single base substitution G C missense_variant S868C 2603C>G BRCA-US 2 128477068 128477068 single base substitution G C stop_gained S844* 2531C>G BRCA-US 2 128477151 128477151 single base substitution T C synonymous_variant P816P 2448A>G BRCA-US 2 128522166 128522166 single base substitution C T downstream_gene_variant BRCA-US 2 128522166 128522166 single base substitution C T intron_variant BRCA-US 2 128522166 128522166 single base substitution C T missense_variant A288T 862G>A BRCA-US 2 128522231 128522231 single base substitution T G downstream_gene_variant BRCA-US 2 128522231 128522231 single base substitution T G intron_variant BRCA-US 2 128522231 128522231 single base substitution T G missense_variant H266P 797A>C BRCA-US 2 128526530 128526530 single base substitution G A missense_variant P6S 16C>T BRCA-US 2 128526530 128526530 single base substitution G A missense_variant P84S 250C>T BTCA-JP 2 128480340 128480340 single base substitution T A downstream_gene_variant BTCA-JP 2 128480340 128480340 single base substitution T A intron_variant BTCA-JP 2 128484160 128484160 single base substitution A G downstream_gene_variant BTCA-JP 2 128484160 128484160 single base substitution A G intron_variant BTCA-JP 2 128495533 128495533 single base substitution G A 3_prime_UTR_variant BTCA-JP 2 128495533 128495533 single base substitution G A intron_variant BTCA-JP 2 128522853 128522853 deletion of <=200bp A - downstream_gene_variant BTCA-JP 2 128522853 128522853 deletion of <=200bp A - intron_variant CESC-US 2 128464072 128464072 single base substitution G C missense_variant S1279C 3836C>G CESC-US 2 128471326 128471326 single base substitution G A stop_gained R1047* 3139C>T CESC-US 2 128474785 128474785 single base substitution C T missense_variant G938E 2813G>A CESC-US 2 128479457 128479457 single base substitution C G downstream_gene_variant CESC-US 2 128479457 128479457 single base substitution C G missense_variant E542Q 1624G>C CESC-US 2 128481925 128481925 single base substitution C T downstream_gene_variant CESC-US 2 128481925 128481925 single base substitution C T missense_variant G393D 1178G>A CLLE-ES 2 128457197 128457197 single base substitution C T downstream_gene_variant CLLE-ES 2 128464825 128464825 single base substitution A G intron_variant CLLE-ES 2 128472936 128472936 single base substitution G A intron_variant CLLE-ES 2 128474804 128474804 single base substitution G T missense_variant P932T 2794C>A CLLE-ES 2 128495028 128495028 single base substitution T C 3_prime_UTR_variant CLLE-ES 2 128495028 128495028 single base substitution T C intron_variant CLLE-ES 2 128518566 128518566 single base substitution G C downstream_gene_variant CLLE-ES 2 128518566 128518566 single base substitution G C intron_variant CLLE-ES 2 128525667 128525667 single base substitution T G downstream_gene_variant CLLE-ES 2 128525667 128525667 single base substitution T G intron_variant CLLE-ES 2 128555485 128555485 single base substitution G A intron_variant CLLE-ES 2 128557520 128557520 single base substitution G C intron_variant CLLE-ES 2 128558792 128558792 single base substitution A G intron_variant COAD-US 2 128459132 128459132 single base substitution G A 3_prime_UTR_variant COAD-US 2 128463985 128463985 single base substitution C T missense_variant R1308Q 3923G>A COAD-US 2 128464064 128464064 single base substitution C T missense_variant G1282R 3844G>A COAD-US 2 128464117 128464117 deletion of <=200bp C - frameshift_variant G1264 COAD-US 2 128466334 128466334 single base substitution C T missense_variant R1233H 3698G>A COAD-US 2 128471199 128471199 single base substitution C T missense_variant R1089Q 3266G>A COAD-US 2 128476860 128476860 single base substitution C T synonymous_variant G913G 2739G>A COAD-US 2 128476955 128476955 single base substitution C T missense_variant G882R 2644G>A COAD-US 2 128476975 128476975 single base substitution C A missense_variant G875V 2624G>T COAD-US 2 128477304 128477304 single base substitution T C synonymous_variant Q765Q 2295A>G COAD-US 2 128482008 128482008 single base substitution C T downstream_gene_variant COAD-US 2 128482008 128482008 single base substitution C T synonymous_variant K365K 1095G>A COAD-US 2 128482768 128482768 single base substitution T G downstream_gene_variant COAD-US 2 128482768 128482768 single base substitution T G synonymous_variant V291V 873A>C COAD-US 2 128520713 128520713 single base substitution T G 3_prime_UTR_variant COAD-US 2 128520713 128520713 single base substitution T G missense_variant K138T 413A>C COAD-US 2 128520713 128520713 single base substitution T G missense_variant K216T 647A>C COAD-US 2 128522061 128522061 single base substitution C A downstream_gene_variant COAD-US 2 128522061 128522061 single base substitution C A intron_variant COAD-US 2 128522061 128522061 single base substitution C A stop_gained E323* 967G>T COAD-US 2 128522141 128522141 insertion of <=200bp - A downstream_gene_variant COAD-US 2 128522141 128522141 insertion of <=200bp - A frameshift_variant S296S? COAD-US 2 128522141 128522141 insertion of <=200bp - A intron_variant COAD-US 2 128522180 128522180 single base substitution T C downstream_gene_variant COAD-US 2 128522180 128522180 single base substitution T C intron_variant COAD-US 2 128522180 128522180 single base substitution T C missense_variant D283G 848A>G COAD-US 2 128526575 128526575 single base substitution T C missense_variant N69D 205A>G COAD-US 2 128526575 128526575 single base substitution T C splice_region_variant COCA-CN 2 128467100 128467100 single base substitution G A missense_variant R1177W 3529C>T COCA-CN 2 128471375 128471375 single base substitution A G synonymous_variant R1030R 3090T>C COCA-CN 2 128479323 128479323 single base substitution T A downstream_gene_variant COCA-CN 2 128479323 128479323 single base substitution T A intron_variant COCA-CN 2 128479502 128479502 single base substitution C T downstream_gene_variant COCA-CN 2 128479502 128479502 single base substitution C T missense_variant E527K 1579G>A COCA-CN 2 128479577 128479577 single base substitution G T downstream_gene_variant COCA-CN 2 128479577 128479577 single base substitution G T intron_variant COCA-CN 2 128480480 128480480 single base substitution G A downstream_gene_variant COCA-CN 2 128480480 128480480 single base substitution G A intron_variant COCA-CN 2 128480605 128480605 single base substitution A G downstream_gene_variant COCA-CN 2 128480605 128480605 single base substitution A G synonymous_variant P435P 1305T>C COCA-CN 2 128482854 128482854 single base substitution T G downstream_gene_variant COCA-CN 2 128482854 128482854 single base substitution T G intron_variant COCA-CN 2 128482865 128482865 single base substitution C T downstream_gene_variant COCA-CN 2 128482865 128482865 single base substitution C T intron_variant COCA-CN 2 128520615 128520615 single base substitution C A 3_prime_UTR_variant COCA-CN 2 128520615 128520615 single base substitution C A intron_variant COCA-CN 2 128525709 128525709 single base substitution T G downstream_gene_variant COCA-CN 2 128525709 128525709 single base substitution T G intron_variant COCA-CN 2 128525839 128525839 single base substitution T G missense_variant N101T 302A>C COCA-CN 2 128525839 128525839 single base substitution T G missense_variant N23T 68A>C EOPC-DE 2 128455386 128455386 single base substitution G A downstream_gene_variant EOPC-DE 2 128560539 128560539 single base substitution A G intron_variant EOPC-DE 2 128565409 128565409 single base substitution G T intron_variant ESAD-UK 2 128454832 128454832 single base substitution G A downstream_gene_variant ESAD-UK 2 128454958 128454958 single base substitution G A downstream_gene_variant ESAD-UK 2 128455674 128455674 single base substitution C T downstream_gene_variant ESAD-UK 2 128457118 128457118 single base substitution G A downstream_gene_variant ESAD-UK 2 128457238 128457238 single base substitution A G downstream_gene_variant ESAD-UK 2 128457679 128457680 deletion of <=200bp TG - downstream_gene_variant ESAD-UK 2 128458178 128458178 single base substitution C A downstream_gene_variant ESAD-UK 2 128460198 128460198 single base substitution G T 3_prime_UTR_variant ESAD-UK 2 128461082 128461082 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 128461952 128461952 single base substitution A G 3_prime_UTR_variant ESAD-UK 2 128463003 128463003 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 2 128464082 128464082 single base substitution G A missense_variant R1276C 3826C>T ESAD-UK 2 128470127 128470127 single base substitution C T intron_variant ESAD-UK 2 128471416 128471416 single base substitution C T missense_variant D1017N 3049G>A ESAD-UK 2 128474595 128474595 single base substitution A G intron_variant ESAD-UK 2 128475584 128475584 single base substitution C T intron_variant ESAD-UK 2 128475649 128475649 single base substitution G C intron_variant ESAD-UK 2 128476454 128476454 single base substitution G A intron_variant ESAD-UK 2 128477277 128477277 single base substitution T C synonymous_variant G774G 2322A>G ESAD-UK 2 128477655 128477655 deletion of <=200bp C - frameshift_variant G648 ESAD-UK 2 128482162 128482162 single base substitution G A downstream_gene_variant ESAD-UK 2 128482162 128482162 single base substitution G A intron_variant ESAD-UK 2 128484386 128484386 single base substitution G C intron_variant ESAD-UK 2 128487701 128487701 single base substitution G A intron_variant ESAD-UK 2 128488093 128488093 insertion of <=200bp - A downstream_gene_variant ESAD-UK 2 128488093 128488093 insertion of <=200bp - A intron_variant ESAD-UK 2 128493182 128493182 single base substitution T C 3_prime_UTR_variant ESAD-UK 2 128493182 128493182 single base substitution T C intron_variant ESAD-UK 2 128498544 128498544 single base substitution C A intron_variant ESAD-UK 2 128502129 128502129 single base substitution A G intron_variant ESAD-UK 2 128506021 128506021 single base substitution G A intron_variant ESAD-UK 2 128509237 128509237 insertion of <=200bp - T intron_variant ESAD-UK 2 128509651 128509651 single base substitution T C intron_variant ESAD-UK 2 128511519 128511519 single base substitution G C intron_variant ESAD-UK 2 128513128 128513128 insertion of <=200bp - TT intron_variant ESAD-UK 2 128513564 128513564 single base substitution G A intron_variant ESAD-UK 2 128513938 128513938 deletion of <=200bp A - intron_variant ESAD-UK 2 128514972 128514972 single base substitution C G intron_variant ESAD-UK 2 128515611 128515611 single base substitution C A downstream_gene_variant ESAD-UK 2 128515611 128515611 single base substitution C A intron_variant ESAD-UK 2 128516499 128516499 single base substitution T A downstream_gene_variant ESAD-UK 2 128516499 128516499 single base substitution T A intron_variant ESAD-UK 2 128517324 128517324 single base substitution C A downstream_gene_variant ESAD-UK 2 128517324 128517324 single base substitution C A intron_variant ESAD-UK 2 128517457 128517457 single base substitution T A downstream_gene_variant ESAD-UK 2 128517457 128517457 single base substitution T A intron_variant ESAD-UK 2 128525132 128525132 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 128525132 128525132 deletion of <=200bp A - intron_variant ESAD-UK 2 128529881 128529881 single base substitution C T intron_variant ESAD-UK 2 128533076 128533076 deletion of <=200bp T - intron_variant ESAD-UK 2 128539418 128539418 single base substitution C A intron_variant ESAD-UK 2 128539842 128539842 single base substitution G A intron_variant ESAD-UK 2 128543226 128543226 deletion of <=200bp T - intron_variant ESAD-UK 2 128543785 128543785 single base substitution T G intron_variant ESAD-UK 2 128554696 128554696 single base substitution G A intron_variant ESAD-UK 2 128556141 128556141 single base substitution C G intron_variant ESAD-UK 2 128557112 128557112 single base substitution T C intron_variant ESAD-UK 2 128557636 128557636 single base substitution A T intron_variant ESAD-UK 2 128561584 128561584 single base substitution G A intron_variant ESAD-UK 2 128562484 128562484 single base substitution T C intron_variant ESAD-UK 2 128563006 128563006 single base substitution C G intron_variant ESAD-UK 2 128566406 128566406 single base substitution C T intron_variant ESAD-UK 2 128572352 128572352 insertion of <=200bp - A upstream_gene_variant ESCA-CN 2 128479479 128479479 single base substitution C G downstream_gene_variant ESCA-CN 2 128479479 128479479 single base substitution C G missense_variant K534N 1602G>C ESCA-CN 2 128480276 128480276 single base substitution C T downstream_gene_variant ESCA-CN 2 128480276 128480276 single base substitution C T missense_variant M469I 1407G>A ESCA-CN 2 128482011 128482011 single base substitution C T downstream_gene_variant ESCA-CN 2 128482011 128482011 single base substitution C T synonymous_variant E364E 1092G>A ESCA-CN 2 128522751 128522751 single base substitution T C downstream_gene_variant ESCA-CN 2 128522751 128522751 single base substitution T C synonymous_variant L157L 471A>G ESCA-CN 2 128522751 128522751 single base substitution T C synonymous_variant L79L 237A>G GBM-US 2 128471476 128471476 single base substitution T C missense_variant R997G 2989A>G GBM-US 2 128484320 128484320 single base substitution C T stop_gained W174* 522G>A GBM-US 2 128484320 128484320 single base substitution C T stop_gained W252* 756G>A KIRC-US 2 128477700 128477700 single base substitution T A synonymous_variant G633G 1899A>T KIRC-US 2 128480195 128480195 deletion of <=200bp A - downstream_gene_variant KIRC-US 2 128480195 128480195 deletion of <=200bp A - frameshift_variant Y496 KIRC-US 2 128481936 128481936 insertion of <=200bp - AT downstream_gene_variant KIRC-US 2 128481936 128481936 insertion of <=200bp - AT frameshift_variant I389I? KIRP-US 2 128484249 128484249 deletion of <=200bp T - frameshift_variant K198 KIRP-US 2 128484249 128484249 deletion of <=200bp T - frameshift_variant K276 KIRP-US 2 128526506 128526506 single base substitution C A splice_donor_variant LAML-KR 2 128507253 128507253 single base substitution G A intron_variant LAML-KR 2 128545234 128545234 single base substitution A G intron_variant LAML-KR 2 128545687 128545687 single base substitution T A intron_variant LAML-KR 2 128546048 128546048 single base substitution T C intron_variant LAML-KR 2 128546135 128546135 single base substitution C T intron_variant LAML-KR 2 128546359 128546359 single base substitution C A intron_variant LAML-KR 2 128546453 128546453 single base substitution G A intron_variant LAML-KR 2 128547077 128547077 single base substitution C T intron_variant LAML-KR 2 128547102 128547102 single base substitution C G intron_variant LAML-KR 2 128547229 128547229 single base substitution C T intron_variant LAML-KR 2 128550771 128550771 single base substitution G A intron_variant LAML-KR 2 128551459 128551459 single base substitution T A intron_variant LGG-US 2 128463958 128463961 deletion of <=200bp CTCC - frameshift_variant GS1316 LGG-US 2 128471489 128471489 single base substitution A C synonymous_variant G992G 2976T>G LGG-US 2 128477431 128477431 single base substitution G A missense_variant P723L 2168C>T LGG-US 2 128522748 128522748 single base substitution C G downstream_gene_variant LGG-US 2 128522748 128522748 single base substitution C G missense_variant Q158H 474G>C LGG-US 2 128522748 128522748 single base substitution C G missense_variant Q80H 240G>C LICA-CN 2 128476899 128476899 single base substitution T A synonymous_variant I900I 2700A>T LICA-FR 2 128474071 128474071 single base substitution G A intron_variant LICA-FR 2 128493949 128493949 single base substitution T A 3_prime_UTR_variant LICA-FR 2 128493949 128493949 single base substitution T A intron_variant LICA-FR 2 128494611 128494611 single base substitution C G 3_prime_UTR_variant LICA-FR 2 128494611 128494611 single base substitution C G intron_variant LICA-FR 2 128495651 128495651 single base substitution T C intron_variant LICA-FR 2 128522233 128522233 single base substitution C T downstream_gene_variant LICA-FR 2 128522233 128522233 single base substitution C T intron_variant LICA-FR 2 128522233 128522233 single base substitution C T stop_gained W265* 795G>A LICA-FR 2 128532096 128532096 single base substitution C T intron_variant LICA-FR 2 128532413 128532413 single base substitution G A intron_variant LICA-FR 2 128540118 128540118 single base substitution T C intron_variant LICA-FR 2 128546135 128546135 single base substitution C T intron_variant LICA-FR 2 128546311 128546311 single base substitution C T intron_variant LICA-FR 2 128548733 128548733 single base substitution A C intron_variant LICA-FR 2 128553232 128553232 deletion of <=200bp A - intron_variant LICA-FR 2 128564123 128564123 single base substitution T C intron_variant LICA-FR 2 128565333 128565333 single base substitution T C intron_variant LICA-FR 2 128569280 128569280 single base substitution T C upstream_gene_variant LIHC-US 2 128474768 128474768 single base substitution G T missense_variant P944T 2830C>A LIHC-US 2 128477498 128477498 single base substitution G T missense_variant P701T 2101C>A LIHC-US 2 128480841 128480841 single base substitution T C downstream_gene_variant LIHC-US 2 128480841 128480841 single base substitution T C missense_variant D426G 1277A>G LIHC-US 2 128495606 128495606 single base substitution A C intron_variant LIHC-US 2 128495606 128495606 single base substitution A C synonymous_variant R249R 747T>G LIHC-US 2 128522413 128522413 single base substitution A G downstream_gene_variant LIHC-US 2 128522413 128522413 single base substitution A G synonymous_variant I127I 381T>C LIHC-US 2 128522413 128522413 single base substitution A G synonymous_variant I205I 615T>C LINC-JP 2 128455927 128455927 single base substitution G A downstream_gene_variant LINC-JP 2 128457878 128457878 single base substitution T G downstream_gene_variant LINC-JP 2 128461830 128461830 single base substitution T C 3_prime_UTR_variant LINC-JP 2 128467233 128467233 single base substitution C T intron_variant LINC-JP 2 128477311 128477311 single base substitution C G missense_variant G763A 2288G>C LINC-JP 2 128482362 128482362 single base substitution T C downstream_gene_variant LINC-JP 2 128482362 128482362 single base substitution T C intron_variant LINC-JP 2 128497413 128497413 single base substitution T A intron_variant LINC-JP 2 128506438 128506438 single base substitution C T intron_variant LINC-JP 2 128506572 128506572 single base substitution A G intron_variant LINC-JP 2 128507450 128507450 single base substitution C A intron_variant LINC-JP 2 128519025 128519025 single base substitution C T downstream_gene_variant LINC-JP 2 128519025 128519025 single base substitution C T intron_variant LINC-JP 2 128520866 128520866 single base substitution C T 3_prime_UTR_variant LINC-JP 2 128520866 128520866 single base substitution C T downstream_gene_variant LINC-JP 2 128520866 128520866 single base substitution C T intron_variant LINC-JP 2 128522131 128522131 single base substitution A C downstream_gene_variant LINC-JP 2 128522131 128522131 single base substitution A C intron_variant LINC-JP 2 128522131 128522131 single base substitution A C missense_variant I299M 897T>G LINC-JP 2 128522385 128522385 single base substitution G A downstream_gene_variant LINC-JP 2 128522385 128522385 single base substitution G A intron_variant LINC-JP 2 128522385 128522385 single base substitution G A missense_variant P215S 643C>T LINC-JP 2 128522438 128522438 single base substitution A C downstream_gene_variant LINC-JP 2 128522438 128522438 single base substitution A C missense_variant M119R 356T>G LINC-JP 2 128522438 128522438 single base substitution A C missense_variant M197R 590T>G LINC-JP 2 128528278 128528278 single base substitution T A intron_variant LINC-JP 2 128533443 128533443 deletion of <=200bp A - intron_variant LINC-JP 2 128548729 128548729 deletion of <=200bp C - intron_variant LINC-JP 2 128556212 128556212 single base substitution T C intron_variant LINC-JP 2 128567078 128567078 single base substitution T C intron_variant LIRI-JP 2 128453777 128453777 single base substitution G A downstream_gene_variant LIRI-JP 2 128456993 128456993 single base substitution C T downstream_gene_variant LIRI-JP 2 128457839 128457839 single base substitution T C downstream_gene_variant LIRI-JP 2 128457945 128457945 single base substitution T G downstream_gene_variant LIRI-JP 2 128462626 128462626 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 128463409 128463409 single base substitution A C 3_prime_UTR_variant LIRI-JP 2 128463931 128463931 single base substitution C T missense_variant R1326Q 3977G>A LIRI-JP 2 128466975 128466975 single base substitution G A intron_variant LIRI-JP 2 128467277 128467277 single base substitution A T synonymous_variant G1154G 3462T>A LIRI-JP 2 128468505 128468505 single base substitution T C intron_variant LIRI-JP 2 128469070 128469070 single base substitution T C intron_variant LIRI-JP 2 128469151 128469151 single base substitution C G intron_variant LIRI-JP 2 128476415 128476415 single base substitution G A intron_variant LIRI-JP 2 128477058 128477058 single base substitution T C synonymous_variant G847G 2541A>G LIRI-JP 2 128477365 128477365 single base substitution C G missense_variant G745A 2234G>C LIRI-JP 2 128479339 128479339 single base substitution G T downstream_gene_variant LIRI-JP 2 128479339 128479339 single base substitution G T intron_variant LIRI-JP 2 128479599 128479599 single base substitution T C downstream_gene_variant LIRI-JP 2 128479599 128479599 single base substitution T C intron_variant LIRI-JP 2 128479742 128479742 single base substitution A G downstream_gene_variant LIRI-JP 2 128479742 128479742 single base substitution A G intron_variant LIRI-JP 2 128479821 128479821 single base substitution G A downstream_gene_variant LIRI-JP 2 128479821 128479821 single base substitution G A intron_variant LIRI-JP 2 128481105 128481105 single base substitution C A downstream_gene_variant LIRI-JP 2 128481105 128481105 single base substitution C A intron_variant LIRI-JP 2 128483280 128483280 single base substitution T G downstream_gene_variant LIRI-JP 2 128483280 128483280 single base substitution T G intron_variant LIRI-JP 2 128483947 128483947 single base substitution C T downstream_gene_variant LIRI-JP 2 128483947 128483947 single base substitution C T intron_variant LIRI-JP 2 128484094 128484094 single base substitution T C downstream_gene_variant LIRI-JP 2 128484094 128484094 single base substitution T C intron_variant LIRI-JP 2 128484537 128484537 single base substitution T C intron_variant LIRI-JP 2 128484577 128484577 single base substitution T C intron_variant LIRI-JP 2 128485648 128485648 single base substitution G C intron_variant LIRI-JP 2 128485852 128485852 single base substitution T A intron_variant LIRI-JP 2 128486036 128486036 single base substitution T C intron_variant LIRI-JP 2 128488914 128488914 single base substitution T C downstream_gene_variant LIRI-JP 2 128488914 128488914 single base substitution T C intron_variant LIRI-JP 2 128489432 128489432 single base substitution G A downstream_gene_variant LIRI-JP 2 128489432 128489432 single base substitution G A intron_variant LIRI-JP 2 128490455 128490455 single base substitution T A downstream_gene_variant LIRI-JP 2 128490455 128490455 single base substitution T A intron_variant LIRI-JP 2 128490701 128490701 single base substitution A C downstream_gene_variant LIRI-JP 2 128490701 128490701 single base substitution A C intron_variant LIRI-JP 2 128491888 128491888 single base substitution C A downstream_gene_variant LIRI-JP 2 128491888 128491888 single base substitution C A intron_variant LIRI-JP 2 128493485 128493485 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 128493485 128493485 single base substitution T C intron_variant LIRI-JP 2 128496188 128496188 single base substitution T C intron_variant LIRI-JP 2 128496999 128496999 single base substitution G C intron_variant LIRI-JP 2 128497289 128497289 single base substitution T C intron_variant LIRI-JP 2 128497576 128497576 single base substitution A C intron_variant LIRI-JP 2 128498131 128498131 single base substitution A C intron_variant LIRI-JP 2 128499244 128499244 single base substitution T C intron_variant LIRI-JP 2 128500794 128500794 single base substitution T G intron_variant LIRI-JP 2 128500892 128500892 single base substitution G T intron_variant LIRI-JP 2 128502364 128502364 insertion of <=200bp - A intron_variant LIRI-JP 2 128504645 128504645 single base substitution G A intron_variant LIRI-JP 2 128506241 128506241 single base substitution G C intron_variant LIRI-JP 2 128509144 128509144 single base substitution T G intron_variant LIRI-JP 2 128509334 128509334 single base substitution G T intron_variant LIRI-JP 2 128510488 128510488 single base substitution A G intron_variant LIRI-JP 2 128510685 128510685 single base substitution G C intron_variant LIRI-JP 2 128510730 128510730 single base substitution A T intron_variant LIRI-JP 2 128511318 128511318 deletion of <=200bp T - intron_variant LIRI-JP 2 128513434 128513434 single base substitution T C intron_variant LIRI-JP 2 128515298 128515298 single base substitution T C downstream_gene_variant LIRI-JP 2 128515298 128515298 single base substitution T C intron_variant LIRI-JP 2 128515428 128515428 single base substitution C A downstream_gene_variant LIRI-JP 2 128515428 128515428 single base substitution C A intron_variant LIRI-JP 2 128521189 128521189 deletion of <=200bp A - 3_prime_UTR_variant LIRI-JP 2 128521189 128521189 deletion of <=200bp A - downstream_gene_variant LIRI-JP 2 128521189 128521189 deletion of <=200bp A - intron_variant LIRI-JP 2 128522289 128522289 single base substitution G C downstream_gene_variant LIRI-JP 2 128522289 128522289 single base substitution G C intron_variant LIRI-JP 2 128522289 128522289 single base substitution G C missense_variant L247V 739C>G LIRI-JP 2 128523570 128523570 single base substitution T A downstream_gene_variant LIRI-JP 2 128523570 128523570 single base substitution T A intron_variant LIRI-JP 2 128523965 128523965 single base substitution C T downstream_gene_variant LIRI-JP 2 128523965 128523965 single base substitution C T intron_variant LIRI-JP 2 128524751 128524751 single base substitution T C downstream_gene_variant LIRI-JP 2 128524751 128524751 single base substitution T C intron_variant LIRI-JP 2 128526477 128526477 single base substitution T C intron_variant LIRI-JP 2 128526618 128526618 single base substitution A G intron_variant LIRI-JP 2 128527337 128527337 insertion of <=200bp - A intron_variant LIRI-JP 2 128527477 128527477 single base substitution C T intron_variant LIRI-JP 2 128528404 128528404 single base substitution G A intron_variant LIRI-JP 2 128528404 128528404 single base substitution G A missense_variant A51V 152C>T LIRI-JP 2 128528846 128528846 single base substitution C T intron_variant LIRI-JP 2 128529279 128529279 single base substitution A C intron_variant LIRI-JP 2 128530996 128530996 single base substitution G C intron_variant LIRI-JP 2 128530997 128530997 single base substitution G A intron_variant LIRI-JP 2 128531034 128531039 deletion of <=200bp CGCACA - intron_variant LIRI-JP 2 128532574 128532574 single base substitution A G intron_variant LIRI-JP 2 128532970 128532970 single base substitution T G intron_variant LIRI-JP 2 128534781 128534781 single base substitution C A intron_variant LIRI-JP 2 128534959 128534959 single base substitution C T intron_variant LIRI-JP 2 128537072 128537072 single base substitution T C intron_variant LIRI-JP 2 128537705 128537705 single base substitution G A intron_variant LIRI-JP 2 128538773 128538773 single base substitution T C intron_variant LIRI-JP 2 128543202 128543202 single base substitution C T intron_variant LIRI-JP 2 128543331 128543331 single base substitution G A intron_variant LIRI-JP 2 128548486 128548486 single base substitution T C intron_variant LIRI-JP 2 128549389 128549389 single base substitution A C intron_variant LIRI-JP 2 128550114 128550114 single base substitution C T intron_variant LIRI-JP 2 128551778 128551778 single base substitution C A intron_variant LIRI-JP 2 128552548 128552548 single base substitution A G intron_variant LIRI-JP 2 128552612 128552612 single base substitution T C intron_variant LIRI-JP 2 128556300 128556300 single base substitution T C intron_variant LIRI-JP 2 128556708 128556708 single base substitution C T intron_variant LIRI-JP 2 128560456 128560456 single base substitution G C intron_variant LIRI-JP 2 128562009 128562009 single base substitution A G intron_variant LIRI-JP 2 128562775 128562775 single base substitution C T intron_variant LIRI-JP 2 128562861 128562861 single base substitution G C intron_variant LIRI-JP 2 128563115 128563115 single base substitution T C intron_variant LIRI-JP 2 128563910 128563910 single base substitution T C intron_variant LIRI-JP 2 128563924 128563924 single base substitution G T intron_variant LIRI-JP 2 128565539 128565539 single base substitution A T intron_variant LIRI-JP 2 128565628 128565628 single base substitution T A intron_variant LIRI-JP 2 128566010 128566010 single base substitution T C intron_variant LIRI-JP 2 128566015 128566015 single base substitution T A intron_variant LIRI-JP 2 128567152 128567152 single base substitution G A intron_variant LIRI-JP 2 128567485 128567485 single base substitution T A intron_variant LIRI-JP 2 128567647 128567647 single base substitution C T intron_variant LUSC-KR 2 128470628 128470628 single base substitution G C intron_variant LUSC-KR 2 128473415 128473415 single base substitution C A intron_variant LUSC-KR 2 128481529 128481529 single base substitution T C downstream_gene_variant LUSC-KR 2 128481529 128481529 single base substitution T C intron_variant LUSC-KR 2 128484353 128484353 single base substitution T A splice_acceptor_variant LUSC-KR 2 128487583 128487583 single base substitution G T intron_variant LUSC-KR 2 128489134 128489134 single base substitution C T downstream_gene_variant LUSC-KR 2 128489134 128489134 single base substitution C T intron_variant LUSC-KR 2 128492271 128492271 single base substitution G A downstream_gene_variant LUSC-KR 2 128492271 128492271 single base substitution G A intron_variant LUSC-KR 2 128492642 128492642 single base substitution C A downstream_gene_variant LUSC-KR 2 128492642 128492642 single base substitution C A intron_variant LUSC-KR 2 128493944 128493944 single base substitution G C 3_prime_UTR_variant LUSC-KR 2 128493944 128493944 single base substitution G C intron_variant LUSC-KR 2 128495341 128495341 single base substitution T C 3_prime_UTR_variant LUSC-KR 2 128495341 128495341 single base substitution T C intron_variant LUSC-KR 2 128497518 128497518 single base substitution C A intron_variant LUSC-KR 2 128508491 128508491 single base substitution C A intron_variant LUSC-KR 2 128510734 128510734 single base substitution C A intron_variant LUSC-KR 2 128512481 128512481 single base substitution C A intron_variant LUSC-KR 2 128516981 128516981 single base substitution C A downstream_gene_variant LUSC-KR 2 128516981 128516981 single base substitution C A intron_variant LUSC-KR 2 128518512 128518512 single base substitution C G downstream_gene_variant LUSC-KR 2 128518512 128518512 single base substitution C G intron_variant LUSC-KR 2 128519378 128519378 single base substitution C A downstream_gene_variant LUSC-KR 2 128519378 128519378 single base substitution C A intron_variant LUSC-KR 2 128523426 128523426 single base substitution T A downstream_gene_variant LUSC-KR 2 128523426 128523426 single base substitution T A intron_variant LUSC-KR 2 128528774 128528774 single base substitution T A intron_variant LUSC-KR 2 128531869 128531869 single base substitution G A intron_variant LUSC-KR 2 128532387 128532387 single base substitution G C intron_variant LUSC-KR 2 128532871 128532871 single base substitution T A intron_variant LUSC-KR 2 128537648 128537648 single base substitution C A intron_variant LUSC-KR 2 128538344 128538344 single base substitution G C intron_variant LUSC-KR 2 128544215 128544215 single base substitution G A intron_variant LUSC-KR 2 128545288 128545288 single base substitution T C intron_variant LUSC-KR 2 128545409 128545409 single base substitution G A intron_variant LUSC-KR 2 128545447 128545447 single base substitution C T intron_variant LUSC-KR 2 128545814 128545814 single base substitution A G intron_variant LUSC-KR 2 128545846 128545846 single base substitution C G intron_variant LUSC-KR 2 128545856 128545856 single base substitution G A intron_variant LUSC-KR 2 128545892 128545892 single base substitution G A intron_variant LUSC-KR 2 128545958 128545958 single base substitution T C intron_variant LUSC-KR 2 128546052 128546052 single base substitution A C intron_variant LUSC-KR 2 128546135 128546135 single base substitution C T intron_variant LUSC-KR 2 128546148 128546148 single base substitution T C intron_variant LUSC-KR 2 128546186 128546186 single base substitution C T intron_variant LUSC-KR 2 128546249 128546249 single base substitution C T intron_variant LUSC-KR 2 128546283 128546283 single base substitution C A intron_variant LUSC-KR 2 128546311 128546311 single base substitution C T intron_variant LUSC-KR 2 128546364 128546364 single base substitution C T intron_variant LUSC-KR 2 128546578 128546578 single base substitution G A intron_variant LUSC-KR 2 128546640 128546640 single base substitution C T intron_variant LUSC-KR 2 128546643 128546643 single base substitution C T intron_variant LUSC-KR 2 128547102 128547102 single base substitution C G intron_variant LUSC-KR 2 128548573 128548573 single base substitution C T intron_variant LUSC-KR 2 128550249 128550249 single base substitution C G intron_variant LUSC-KR 2 128552356 128552356 single base substitution C A intron_variant LUSC-KR 2 128552921 128552921 single base substitution C A intron_variant LUSC-KR 2 128554404 128554404 single base substitution G A intron_variant LUSC-KR 2 128555484 128555484 single base substitution G A intron_variant LUSC-KR 2 128557309 128557309 single base substitution A C intron_variant LUSC-KR 2 128557987 128557987 single base substitution T C intron_variant LUSC-KR 2 128570451 128570451 single base substitution G C upstream_gene_variant LUSC-KR 2 128571039 128571039 single base substitution T C upstream_gene_variant LUSC-KR 2 128572445 128572445 single base substitution A G upstream_gene_variant LUSC-KR 2 128572691 128572691 single base substitution A T upstream_gene_variant LUSC-US 2 128466368 128466368 single base substitution C T missense_variant G1222S 3664G>A LUSC-US 2 128471191 128471191 single base substitution C A stop_gained E1092* 3274G>T LUSC-US 2 128471306 128471306 single base substitution C A synonymous_variant P1053P 3159G>T LUSC-US 2 128471314 128471314 single base substitution C A missense_variant G1051W 3151G>T LUSC-US 2 128477377 128477377 single base substitution T A missense_variant Q741L 2222A>T LUSC-US 2 128477651 128477651 single base substitution G T missense_variant Q650K 1948C>A LUSC-US 2 128522490 128522490 single base substitution C A downstream_gene_variant LUSC-US 2 128522490 128522490 single base substitution C A missense_variant D102Y 304G>T LUSC-US 2 128522490 128522490 single base substitution C A missense_variant D180Y 538G>T LUSC-US 2 128526523 128526523 single base substitution G A missense_variant A86V 257C>T LUSC-US 2 128526523 128526523 single base substitution G A missense_variant A8V 23C>T MALY-DE 2 128459550 128459550 single base substitution A G 3_prime_UTR_variant MALY-DE 2 128467119 128467119 single base substitution G A synonymous_variant F1170F 3510C>T MALY-DE 2 128489867 128489867 single base substitution C G downstream_gene_variant MALY-DE 2 128489867 128489867 single base substitution C G intron_variant MALY-DE 2 128491909 128491909 single base substitution G A downstream_gene_variant MALY-DE 2 128491909 128491909 single base substitution G A intron_variant MALY-DE 2 128493868 128493868 single base substitution G A 3_prime_UTR_variant MALY-DE 2 128493868 128493868 single base substitution G A intron_variant MALY-DE 2 128494961 128494961 single base substitution A G 3_prime_UTR_variant MALY-DE 2 128494961 128494961 single base substitution A G intron_variant MALY-DE 2 128505170 128505170 single base substitution C T intron_variant MALY-DE 2 128509297 128509297 single base substitution G A intron_variant MALY-DE 2 128515429 128515429 single base substitution G A downstream_gene_variant MALY-DE 2 128515429 128515429 single base substitution G A intron_variant MALY-DE 2 128519138 128519138 single base substitution A G downstream_gene_variant MALY-DE 2 128519138 128519138 single base substitution A G intron_variant MALY-DE 2 128520495 128520495 insertion of <=200bp - T 3_prime_UTR_variant MALY-DE 2 128520495 128520495 insertion of <=200bp - T intron_variant MALY-DE 2 128524173 128524173 single base substitution T A downstream_gene_variant MALY-DE 2 128524173 128524173 single base substitution T A intron_variant MALY-DE 2 128528396 128528396 single base substitution G A intron_variant MALY-DE 2 128528396 128528396 single base substitution G A stop_gained R54* 160C>T MALY-DE 2 128531120 128531120 single base substitution G A intron_variant MALY-DE 2 128534727 128534727 single base substitution G A intron_variant MALY-DE 2 128535862 128535862 single base substitution T C intron_variant MALY-DE 2 128539876 128539876 single base substitution A G intron_variant MALY-DE 2 128553605 128553605 single base substitution T G intron_variant MALY-DE 2 128554175 128554176 deletion of <=200bp CT - intron_variant MALY-DE 2 128564252 128564252 single base substitution A G intron_variant MALY-DE 2 128565554 128565554 single base substitution A T intron_variant MALY-DE 2 128568384 128568384 single base substitution G A 5_prime_UTR_variant MALY-DE 2 128568384 128568384 single base substitution G A intron_variant MALY-DE 2 128571678 128571678 single base substitution C T upstream_gene_variant MELA-AU 2 128453774 128453775 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 128454332 128454332 single base substitution G A downstream_gene_variant MELA-AU 2 128454698 128454698 single base substitution G A downstream_gene_variant MELA-AU 2 128454872 128454872 single base substitution G A downstream_gene_variant MELA-AU 2 128454957 128454957 single base substitution G A downstream_gene_variant MELA-AU 2 128455092 128455092 single base substitution G A downstream_gene_variant MELA-AU 2 128455360 128455360 single base substitution C T downstream_gene_variant MELA-AU 2 128455497 128455497 single base substitution G A downstream_gene_variant MELA-AU 2 128455527 128455527 single base substitution G A downstream_gene_variant MELA-AU 2 128456384 128456384 single base substitution G A downstream_gene_variant MELA-AU 2 128456901 128456901 single base substitution G A downstream_gene_variant MELA-AU 2 128457694 128457694 single base substitution G A downstream_gene_variant MELA-AU 2 128457712 128457712 single base substitution A T downstream_gene_variant MELA-AU 2 128458577 128458577 single base substitution C T downstream_gene_variant MELA-AU 2 128458968 128458968 single base substitution G A 3_prime_UTR_variant MELA-AU 2 128459059 128459059 single base substitution G A 3_prime_UTR_variant MELA-AU 2 128459090 128459090 single base substitution C T 3_prime_UTR_variant MELA-AU 2 128459909 128459909 single base substitution G A 3_prime_UTR_variant MELA-AU 2 128462118 128462118 single base substitution C T 3_prime_UTR_variant MELA-AU 2 128463934 128463934 single base substitution C T missense_variant R1325K 3974G>A MELA-AU 2 128464043 128464043 single base substitution G T missense_variant H1289N 3865C>A MELA-AU 2 128465501 128465501 single base substitution C T intron_variant MELA-AU 2 128465615 128465615 single base substitution G A intron_variant MELA-AU 2 128466058 128466058 single base substitution C T intron_variant MELA-AU 2 128466294 128466294 single base substitution C T synonymous_variant E1246E 3738G>A MELA-AU 2 128466436 128466436 single base substitution G A missense_variant P1199L 3596C>T MELA-AU 2 128466599 128466599 single base substitution G A intron_variant MELA-AU 2 128467030 128467030 single base substitution C A intron_variant MELA-AU 2 128467427 128467427 single base substitution G A synonymous_variant F1104F 3312C>T MELA-AU 2 128467704 128467704 single base substitution C T intron_variant MELA-AU 2 128469730 128469730 single base substitution G A intron_variant MELA-AU 2 128469995 128469995 single base substitution G A intron_variant MELA-AU 2 128470464 128470464 single base substitution G A intron_variant MELA-AU 2 128471096 128471097 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 128471947 128471947 single base substitution G A intron_variant MELA-AU 2 128472016 128472016 single base substitution G A intron_variant MELA-AU 2 128472476 128472476 single base substitution G A intron_variant MELA-AU 2 128472729 128472729 single base substitution G A intron_variant MELA-AU 2 128472850 128472850 single base substitution G A intron_variant MELA-AU 2 128473359 128473360 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 128473389 128473389 single base substitution G A intron_variant MELA-AU 2 128473408 128473408 single base substitution G A intron_variant MELA-AU 2 128473437 128473438 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 128473585 128473585 single base substitution G A intron_variant MELA-AU 2 128474340 128474340 single base substitution G A intron_variant MELA-AU 2 128474766 128474766 single base substitution G A synonymous_variant P944P 2832C>T MELA-AU 2 128475099 128475099 single base substitution G A intron_variant MELA-AU 2 128475702 128475702 single base substitution G A intron_variant MELA-AU 2 128475885 128475885 single base substitution G A intron_variant MELA-AU 2 128476323 128476323 single base substitution G A intron_variant MELA-AU 2 128476916 128476916 single base substitution G A missense_variant P895S 2683C>T MELA-AU 2 128476946 128476946 single base substitution C T missense_variant G885R 2653G>A MELA-AU 2 128477265 128477265 single base substitution T C synonymous_variant G778G 2334A>G MELA-AU 2 128477618 128477618 single base substitution G A missense_variant P661S 1981C>T MELA-AU 2 128478089 128478089 single base substitution C T intron_variant MELA-AU 2 128479535 128479535 single base substitution G A downstream_gene_variant MELA-AU 2 128479535 128479535 single base substitution G A missense_variant P516S 1546C>T MELA-AU 2 128479768 128479768 single base substitution G A downstream_gene_variant MELA-AU 2 128479768 128479768 single base substitution G A intron_variant MELA-AU 2 128479980 128479980 single base substitution G A downstream_gene_variant MELA-AU 2 128479980 128479980 single base substitution G A intron_variant MELA-AU 2 128481094 128481095 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 128481094 128481095 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 128481914 128481914 single base substitution G A downstream_gene_variant MELA-AU 2 128481914 128481914 single base substitution G A missense_variant H397Y 1189C>T MELA-AU 2 128483009 128483009 single base substitution C T downstream_gene_variant MELA-AU 2 128483009 128483009 single base substitution C T intron_variant MELA-AU 2 128483207 128483207 single base substitution C T downstream_gene_variant MELA-AU 2 128483207 128483207 single base substitution C T intron_variant MELA-AU 2 128483229 128483229 single base substitution A G downstream_gene_variant MELA-AU 2 128483229 128483229 single base substitution A G intron_variant MELA-AU 2 128484342 128484342 single base substitution G A missense_variant A167V 500C>T MELA-AU 2 128484342 128484342 single base substitution G A missense_variant A245V 734C>T MELA-AU 2 128484369 128484369 single base substitution G A intron_variant MELA-AU 2 128485310 128485310 single base substitution G A intron_variant MELA-AU 2 128485633 128485633 single base substitution C G intron_variant MELA-AU 2 128485697 128485697 single base substitution G A intron_variant MELA-AU 2 128485849 128485849 single base substitution G A intron_variant MELA-AU 2 128486114 128486114 single base substitution G A intron_variant MELA-AU 2 128486260 128486260 single base substitution G A intron_variant MELA-AU 2 128486685 128486685 single base substitution G A intron_variant MELA-AU 2 128487483 128487483 single base substitution G A intron_variant MELA-AU 2 128487900 128487900 single base substitution G A intron_variant MELA-AU 2 128488054 128488054 single base substitution T C downstream_gene_variant MELA-AU 2 128488054 128488054 single base substitution T C intron_variant MELA-AU 2 128488153 128488153 single base substitution A T downstream_gene_variant MELA-AU 2 128488153 128488153 single base substitution A T intron_variant MELA-AU 2 128488516 128488516 single base substitution G A downstream_gene_variant MELA-AU 2 128488516 128488516 single base substitution G A intron_variant MELA-AU 2 128489709 128489709 single base substitution A G downstream_gene_variant MELA-AU 2 128489709 128489709 single base substitution A G intron_variant MELA-AU 2 128489820 128489820 single base substitution G A downstream_gene_variant MELA-AU 2 128489820 128489820 single base substitution G A intron_variant MELA-AU 2 128490081 128490081 single base substitution A G downstream_gene_variant MELA-AU 2 128490081 128490081 single base substitution A G intron_variant MELA-AU 2 128490609 128490609 single base substitution G A downstream_gene_variant MELA-AU 2 128490609 128490609 single base substitution G A intron_variant MELA-AU 2 128490610 128490610 single base substitution G A downstream_gene_variant MELA-AU 2 128490610 128490610 single base substitution G A intron_variant MELA-AU 2 128491208 128491208 single base substitution G A downstream_gene_variant MELA-AU 2 128491208 128491208 single base substitution G A intron_variant MELA-AU 2 128491524 128491524 single base substitution G A downstream_gene_variant MELA-AU 2 128491524 128491524 single base substitution G A intron_variant MELA-AU 2 128491752 128491752 single base substitution A T downstream_gene_variant MELA-AU 2 128491752 128491752 single base substitution A T intron_variant MELA-AU 2 128492947 128492947 single base substitution A G downstream_gene_variant MELA-AU 2 128492947 128492947 single base substitution A G intron_variant MELA-AU 2 128493355 128493355 single base substitution C G 3_prime_UTR_variant MELA-AU 2 128493355 128493355 single base substitution C G intron_variant MELA-AU 2 128493611 128493611 single base substitution G A 3_prime_UTR_variant MELA-AU 2 128493611 128493611 single base substitution G A intron_variant MELA-AU 2 128493889 128493889 single base substitution G A 3_prime_UTR_variant MELA-AU 2 128493889 128493889 single base substitution G A intron_variant MELA-AU 2 128495012 128495012 single base substitution C A 3_prime_UTR_variant MELA-AU 2 128495012 128495012 single base substitution C A intron_variant MELA-AU 2 128496230 128496230 single base substitution C A intron_variant MELA-AU 2 128497011 128497011 single base substitution G A intron_variant MELA-AU 2 128498097 128498097 single base substitution G A intron_variant MELA-AU 2 128498271 128498271 single base substitution G A intron_variant MELA-AU 2 128498291 128498291 single base substitution A T intron_variant MELA-AU 2 128498473 128498473 single base substitution G A intron_variant MELA-AU 2 128499102 128499102 single base substitution G A intron_variant MELA-AU 2 128499269 128499269 single base substitution A G intron_variant MELA-AU 2 128499522 128499523 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 128499567 128499567 single base substitution G A intron_variant MELA-AU 2 128499775 128499775 single base substitution G A intron_variant MELA-AU 2 128499897 128499897 single base substitution T C intron_variant MELA-AU 2 128500078 128500078 single base substitution G A intron_variant MELA-AU 2 128500323 128500323 single base substitution G A intron_variant MELA-AU 2 128500790 128500790 single base substitution C T intron_variant MELA-AU 2 128500861 128500861 single base substitution G A intron_variant MELA-AU 2 128501819 128501819 single base substitution G A intron_variant MELA-AU 2 128501866 128501866 single base substitution G A intron_variant MELA-AU 2 128502366 128502366 single base substitution A G intron_variant MELA-AU 2 128502618 128502618 single base substitution A G intron_variant MELA-AU 2 128502831 128502831 single base substitution A G intron_variant MELA-AU 2 128503204 128503204 single base substitution A T intron_variant MELA-AU 2 128503929 128503929 single base substitution C T intron_variant MELA-AU 2 128504334 128504334 single base substitution T A intron_variant MELA-AU 2 128505446 128505446 single base substitution A G intron_variant MELA-AU 2 128506171 128506171 single base substitution G A intron_variant MELA-AU 2 128507163 128507163 single base substitution G A intron_variant MELA-AU 2 128507613 128507613 single base substitution G A intron_variant MELA-AU 2 128507616 128507616 single base substitution G A intron_variant MELA-AU 2 128507871 128507871 single base substitution G A intron_variant MELA-AU 2 128508825 128508825 single base substitution C T intron_variant MELA-AU 2 128509326 128509326 single base substitution G A intron_variant MELA-AU 2 128509338 128509338 single base substitution G A intron_variant MELA-AU 2 128509585 128509585 single base substitution G A intron_variant MELA-AU 2 128509780 128509780 single base substitution G A intron_variant MELA-AU 2 128510635 128510635 single base substitution G A intron_variant MELA-AU 2 128510692 128510692 single base substitution G A intron_variant MELA-AU 2 128511099 128511099 single base substitution G A intron_variant MELA-AU 2 128512293 128512293 single base substitution G A intron_variant MELA-AU 2 128513608 128513608 single base substitution G A intron_variant MELA-AU 2 128513835 128513835 single base substitution G A intron_variant MELA-AU 2 128513936 128513936 single base substitution G A intron_variant MELA-AU 2 128514226 128514226 single base substitution G A intron_variant MELA-AU 2 128514293 128514293 single base substitution G A intron_variant MELA-AU 2 128514992 128514992 insertion of <=200bp - A intron_variant MELA-AU 2 128515183 128515183 single base substitution C T downstream_gene_variant MELA-AU 2 128515183 128515183 single base substitution C T intron_variant MELA-AU 2 128515868 128515868 single base substitution T A downstream_gene_variant MELA-AU 2 128515868 128515868 single base substitution T A intron_variant MELA-AU 2 128516468 128516468 single base substitution G C downstream_gene_variant MELA-AU 2 128516468 128516468 single base substitution G C intron_variant MELA-AU 2 128516626 128516626 single base substitution G A downstream_gene_variant MELA-AU 2 128516626 128516626 single base substitution G A intron_variant MELA-AU 2 128516708 128516708 deletion of <=200bp A - downstream_gene_variant MELA-AU 2 128516708 128516708 deletion of <=200bp A - intron_variant MELA-AU 2 128516715 128516715 single base substitution G A downstream_gene_variant MELA-AU 2 128516715 128516715 single base substitution G A intron_variant MELA-AU 2 128516724 128516724 single base substitution G T downstream_gene_variant MELA-AU 2 128516724 128516724 single base substitution G T intron_variant MELA-AU 2 128516838 128516838 single base substitution G A downstream_gene_variant MELA-AU 2 128516838 128516838 single base substitution G A intron_variant MELA-AU 2 128517678 128517678 single base substitution G A downstream_gene_variant MELA-AU 2 128517678 128517678 single base substitution G A intron_variant MELA-AU 2 128518090 128518090 single base substitution G A downstream_gene_variant MELA-AU 2 128518090 128518090 single base substitution G A intron_variant MELA-AU 2 128519787 128519787 single base substitution G A downstream_gene_variant MELA-AU 2 128519787 128519787 single base substitution G A intron_variant MELA-AU 2 128520222 128520222 single base substitution G A 3_prime_UTR_variant MELA-AU 2 128520222 128520222 single base substitution G A intron_variant MELA-AU 2 128520345 128520345 single base substitution G A 3_prime_UTR_variant MELA-AU 2 128520345 128520345 single base substitution G A intron_variant MELA-AU 2 128520893 128520893 single base substitution A T 3_prime_UTR_variant MELA-AU 2 128520893 128520893 single base substitution A T downstream_gene_variant MELA-AU 2 128520893 128520893 single base substitution A T intron_variant MELA-AU 2 128521303 128521303 single base substitution G A 3_prime_UTR_variant MELA-AU 2 128521303 128521303 single base substitution G A downstream_gene_variant MELA-AU 2 128521303 128521303 single base substitution G A intron_variant MELA-AU 2 128521375 128521375 single base substitution T A 3_prime_UTR_variant MELA-AU 2 128521375 128521375 single base substitution T A downstream_gene_variant MELA-AU 2 128521375 128521375 single base substitution T A intron_variant MELA-AU 2 128521989 128521989 single base substitution C T 3_prime_UTR_variant MELA-AU 2 128521989 128521989 single base substitution C T downstream_gene_variant MELA-AU 2 128521989 128521989 single base substitution C T intron_variant MELA-AU 2 128522074 128522074 single base substitution G A downstream_gene_variant MELA-AU 2 128522074 128522074 single base substitution G A intron_variant MELA-AU 2 128522074 128522074 single base substitution G A synonymous_variant F318F 954C>T MELA-AU 2 128522098 128522098 single base substitution G A downstream_gene_variant MELA-AU 2 128522098 128522098 single base substitution G A intron_variant MELA-AU 2 128522098 128522098 single base substitution G A synonymous_variant I310I 930C>T MELA-AU 2 128523268 128523268 single base substitution A G downstream_gene_variant MELA-AU 2 128523268 128523268 single base substitution A G intron_variant MELA-AU 2 128523999 128523999 single base substitution C T downstream_gene_variant MELA-AU 2 128523999 128523999 single base substitution C T intron_variant MELA-AU 2 128524033 128524033 single base substitution C G downstream_gene_variant MELA-AU 2 128524033 128524033 single base substitution C G intron_variant MELA-AU 2 128524819 128524819 single base substitution C T downstream_gene_variant MELA-AU 2 128524819 128524819 single base substitution C T intron_variant MELA-AU 2 128525107 128525107 single base substitution G A downstream_gene_variant MELA-AU 2 128525107 128525107 single base substitution G A intron_variant MELA-AU 2 128525370 128525370 single base substitution G A downstream_gene_variant MELA-AU 2 128525370 128525370 single base substitution G A intron_variant MELA-AU 2 128525527 128525527 single base substitution G A downstream_gene_variant MELA-AU 2 128525527 128525527 single base substitution G A intron_variant MELA-AU 2 128525879 128525879 single base substitution G A intron_variant MELA-AU 2 128525970 128525970 single base substitution G A intron_variant MELA-AU 2 128526489 128526489 single base substitution G A intron_variant MELA-AU 2 128527484 128527484 single base substitution G A intron_variant MELA-AU 2 128527630 128527630 single base substitution G A intron_variant MELA-AU 2 128528262 128528262 single base substitution T C intron_variant MELA-AU 2 128528267 128528267 insertion of <=200bp - AAAT intron_variant MELA-AU 2 128528752 128528752 single base substitution G A intron_variant MELA-AU 2 128529554 128529554 single base substitution G A intron_variant MELA-AU 2 128529555 128529555 single base substitution G A intron_variant MELA-AU 2 128529940 128529940 single base substitution G A intron_variant MELA-AU 2 128529943 128529944 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 128529992 128529992 single base substitution G A intron_variant MELA-AU 2 128530071 128530071 single base substitution G C intron_variant MELA-AU 2 128530987 128530987 single base substitution T C intron_variant MELA-AU 2 128530988 128530990 deletion of <=200bp AAC - intron_variant MELA-AU 2 128531401 128531401 single base substitution G A intron_variant MELA-AU 2 128532740 128532740 single base substitution G A intron_variant MELA-AU 2 128533313 128533313 single base substitution G A intron_variant MELA-AU 2 128534046 128534046 single base substitution A G intron_variant MELA-AU 2 128534422 128534422 single base substitution G A intron_variant MELA-AU 2 128534470 128534470 single base substitution A G intron_variant MELA-AU 2 128535468 128535468 single base substitution A G intron_variant MELA-AU 2 128536221 128536221 single base substitution G A intron_variant MELA-AU 2 128536904 128536904 single base substitution G A intron_variant MELA-AU 2 128537034 128537034 single base substitution C T intron_variant MELA-AU 2 128537426 128537426 single base substitution A T intron_variant MELA-AU 2 128537477 128537478 multiple base substitution (>=2bp and <=200bp) AG CA intron_variant MELA-AU 2 128537681 128537681 single base substitution G A intron_variant MELA-AU 2 128537769 128537769 single base substitution G A intron_variant MELA-AU 2 128537835 128537835 single base substitution G A intron_variant MELA-AU 2 128538209 128538209 single base substitution G A intron_variant MELA-AU 2 128538708 128538708 single base substitution G A intron_variant MELA-AU 2 128538790 128538790 single base substitution G A intron_variant MELA-AU 2 128539619 128539619 single base substitution G A intron_variant MELA-AU 2 128541394 128541394 single base substitution G A intron_variant MELA-AU 2 128541984 128541984 single base substitution G A intron_variant MELA-AU 2 128542326 128542326 single base substitution G A intron_variant MELA-AU 2 128542413 128542413 single base substitution A C intron_variant MELA-AU 2 128543917 128543917 single base substitution T C intron_variant MELA-AU 2 128543923 128543923 single base substitution C T intron_variant MELA-AU 2 128545039 128545039 single base substitution G A intron_variant MELA-AU 2 128545591 128545591 single base substitution G A intron_variant MELA-AU 2 128545617 128545618 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 128546074 128546074 single base substitution G A intron_variant MELA-AU 2 128547926 128547926 single base substitution T A intron_variant MELA-AU 2 128548124 128548124 single base substitution A G intron_variant MELA-AU 2 128548484 128548484 single base substitution G A intron_variant MELA-AU 2 128549536 128549537 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 128549904 128549904 single base substitution G A intron_variant MELA-AU 2 128550553 128550553 single base substitution G A intron_variant MELA-AU 2 128550826 128550826 single base substitution G A intron_variant MELA-AU 2 128551008 128551008 single base substitution G A intron_variant MELA-AU 2 128551766 128551766 single base substitution T A intron_variant MELA-AU 2 128551778 128551778 single base substitution C A intron_variant MELA-AU 2 128553215 128553221 deletion of <=200bp CAAAACC - intron_variant MELA-AU 2 128553540 128553540 single base substitution G A intron_variant MELA-AU 2 128553627 128553627 single base substitution A G intron_variant MELA-AU 2 128554536 128554536 single base substitution G A intron_variant MELA-AU 2 128558524 128558524 single base substitution G A intron_variant MELA-AU 2 128558614 128558614 single base substitution G A intron_variant MELA-AU 2 128559008 128559008 single base substitution G A intron_variant MELA-AU 2 128559099 128559099 single base substitution A C intron_variant MELA-AU 2 128559238 128559238 single base substitution C T intron_variant MELA-AU 2 128559296 128559296 single base substitution A T intron_variant MELA-AU 2 128561134 128561134 single base substitution T A intron_variant MELA-AU 2 128561331 128561331 single base substitution G A intron_variant MELA-AU 2 128561338 128561338 single base substitution C A intron_variant MELA-AU 2 128561598 128561598 single base substitution G A intron_variant MELA-AU 2 128561789 128561789 single base substitution G A intron_variant MELA-AU 2 128562145 128562145 single base substitution G A intron_variant MELA-AU 2 128562787 128562787 single base substitution G A intron_variant MELA-AU 2 128563868 128563868 single base substitution A G intron_variant MELA-AU 2 128564049 128564049 single base substitution G A intron_variant MELA-AU 2 128564498 128564498 single base substitution G T intron_variant MELA-AU 2 128564611 128564611 single base substitution C T intron_variant MELA-AU 2 128567931 128567931 single base substitution G A intron_variant MELA-AU 2 128570702 128570702 single base substitution C T upstream_gene_variant MELA-AU 2 128570911 128570911 single base substitution G A upstream_gene_variant MELA-AU 2 128570928 128570929 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 128571412 128571412 single base substitution G C upstream_gene_variant MELA-AU 2 128571415 128571415 single base substitution G A upstream_gene_variant MELA-AU 2 128571667 128571667 single base substitution C T upstream_gene_variant MELA-AU 2 128572009 128572009 single base substitution C T upstream_gene_variant MELA-AU 2 128572185 128572185 single base substitution C T upstream_gene_variant MELA-AU 2 128572321 128572321 single base substitution C T upstream_gene_variant MELA-AU 2 128572337 128572337 single base substitution G A upstream_gene_variant MELA-AU 2 128572668 128572668 single base substitution G A upstream_gene_variant MELA-AU 2 128572779 128572779 single base substitution C T upstream_gene_variant MELA-AU 2 128572951 128572951 single base substitution C T upstream_gene_variant MELA-AU 2 128573417 128573417 single base substitution C T upstream_gene_variant MELA-AU 2 128573461 128573461 single base substitution C T upstream_gene_variant ORCA-IN 2 128455889 128455889 single base substitution G C downstream_gene_variant ORCA-IN 2 128467406 128467406 single base substitution C A missense_variant R1111S 3333G>T ORCA-IN 2 128477328 128477328 single base substitution C A synonymous_variant G757G 2271G>T ORCA-IN 2 128477413 128477413 single base substitution A C missense_variant L729W 2186T>G ORCA-IN 2 128489718 128489718 single base substitution C G downstream_gene_variant ORCA-IN 2 128489718 128489718 single base substitution C G intron_variant ORCA-IN 2 128493658 128493658 single base substitution C G 3_prime_UTR_variant ORCA-IN 2 128493658 128493658 single base substitution C G intron_variant ORCA-IN 2 128504041 128504041 single base substitution C T intron_variant ORCA-IN 2 128519662 128519662 single base substitution G C downstream_gene_variant ORCA-IN 2 128519662 128519662 single base substitution G C intron_variant ORCA-IN 2 128541304 128541304 single base substitution G A intron_variant ORCA-IN 2 128552228 128552228 single base substitution G A intron_variant OV-AU 2 128460962 128460962 single base substitution C A 3_prime_UTR_variant OV-AU 2 128468167 128468167 single base substitution C G intron_variant OV-AU 2 128472098 128472098 single base substitution C A intron_variant OV-AU 2 128477556 128477556 single base substitution A C synonymous_variant P681P 2043T>G OV-AU 2 128478459 128478459 single base substitution G C intron_variant OV-AU 2 128478549 128478549 single base substitution G A intron_variant OV-AU 2 128488475 128488475 single base substitution T G downstream_gene_variant OV-AU 2 128488475 128488475 single base substitution T G intron_variant OV-AU 2 128488852 128488852 single base substitution G C downstream_gene_variant OV-AU 2 128488852 128488852 single base substitution G C intron_variant OV-AU 2 128489412 128489412 single base substitution T G downstream_gene_variant OV-AU 2 128489412 128489412 single base substitution T G intron_variant OV-AU 2 128489698 128489698 single base substitution C A downstream_gene_variant OV-AU 2 128489698 128489698 single base substitution C A intron_variant OV-AU 2 128508286 128508286 single base substitution A G intron_variant OV-AU 2 128518565 128518565 single base substitution A C downstream_gene_variant OV-AU 2 128518565 128518565 single base substitution A C intron_variant OV-AU 2 128519667 128519667 single base substitution T C downstream_gene_variant OV-AU 2 128519667 128519667 single base substitution T C intron_variant OV-AU 2 128525872 128525872 insertion of <=200bp - A intron_variant OV-AU 2 128525872 128525872 insertion of <=200bp - A splice_region_variant OV-AU 2 128526664 128526664 single base substitution A G intron_variant OV-AU 2 128533588 128533588 single base substitution G A intron_variant OV-AU 2 128542956 128542956 single base substitution G A intron_variant OV-AU 2 128547418 128547418 single base substitution A T intron_variant OV-AU 2 128557927 128557927 single base substitution G C intron_variant OV-AU 2 128559349 128559349 single base substitution T G intron_variant OV-AU 2 128567769 128567769 single base substitution G A intron_variant OV-AU 2 128568805 128568805 single base substitution T C upstream_gene_variant OV-AU 2 128571442 128571442 single base substitution T C upstream_gene_variant PACA-AU 2 128462586 128462586 single base substitution T G 3_prime_UTR_variant PACA-AU 2 128466382 128466382 single base substitution G A missense_variant S1217F 3650C>T PACA-AU 2 128467078 128467078 single base substitution C G missense_variant G1184A 3551G>C PACA-AU 2 128467105 128467105 single base substitution C G missense_variant G1175A 3524G>C PACA-AU 2 128469358 128469358 single base substitution T A intron_variant PACA-AU 2 128472667 128472667 single base substitution T C intron_variant PACA-AU 2 128472894 128472894 single base substitution A G intron_variant PACA-AU 2 128481311 128481311 single base substitution G A downstream_gene_variant PACA-AU 2 128481311 128481311 single base substitution G A intron_variant PACA-AU 2 128481488 128481488 insertion of <=200bp - A downstream_gene_variant PACA-AU 2 128481488 128481488 insertion of <=200bp - A intron_variant PACA-AU 2 128483577 128483577 single base substitution G C downstream_gene_variant PACA-AU 2 128483577 128483577 single base substitution G C intron_variant PACA-AU 2 128489730 128489730 single base substitution C G downstream_gene_variant PACA-AU 2 128489730 128489730 single base substitution C G intron_variant PACA-AU 2 128492040 128492040 single base substitution T A downstream_gene_variant PACA-AU 2 128492040 128492040 single base substitution T A intron_variant PACA-AU 2 128494375 128494375 single base substitution T G 3_prime_UTR_variant PACA-AU 2 128494375 128494375 single base substitution T G intron_variant PACA-AU 2 128499530 128499530 insertion of <=200bp - T intron_variant PACA-AU 2 128503847 128503847 single base substitution A C intron_variant PACA-AU 2 128515551 128515551 single base substitution G T downstream_gene_variant PACA-AU 2 128515551 128515551 single base substitution G T intron_variant PACA-AU 2 128515905 128515905 single base substitution A T downstream_gene_variant PACA-AU 2 128515905 128515905 single base substitution A T intron_variant PACA-AU 2 128517207 128517207 single base substitution G T downstream_gene_variant PACA-AU 2 128517207 128517207 single base substitution G T intron_variant PACA-AU 2 128517695 128517695 single base substitution A C downstream_gene_variant PACA-AU 2 128517695 128517695 single base substitution A C intron_variant PACA-AU 2 128526577 128526577 single base substitution T A splice_acceptor_variant PACA-AU 2 128532013 128532013 single base substitution T C intron_variant PACA-AU 2 128536762 128536762 single base substitution G T intron_variant PACA-AU 2 128537997 128537997 single base substitution G A intron_variant PACA-AU 2 128538030 128538030 single base substitution A C intron_variant PACA-AU 2 128538914 128538927 deletion of <=200bp TTATAAAAAAGGTA - intron_variant PACA-AU 2 128548858 128548858 single base substitution A G intron_variant PACA-AU 2 128554369 128554369 single base substitution C G intron_variant PACA-AU 2 128554633 128554633 single base substitution G T intron_variant PACA-AU 2 128555628 128555628 single base substitution C T intron_variant PACA-AU 2 128556993 128556993 single base substitution G A intron_variant PACA-AU 2 128560214 128560214 single base substitution T A intron_variant PACA-AU 2 128563426 128563426 single base substitution T C intron_variant PACA-CA 2 128456431 128456431 single base substitution G A downstream_gene_variant PACA-CA 2 128457446 128457446 single base substitution G A downstream_gene_variant PACA-CA 2 128457696 128457696 single base substitution A G downstream_gene_variant PACA-CA 2 128462803 128462803 single base substitution C G 3_prime_UTR_variant PACA-CA 2 128466962 128466962 single base substitution T A intron_variant PACA-CA 2 128468867 128468867 single base substitution C T intron_variant PACA-CA 2 128470172 128470172 single base substitution C G intron_variant PACA-CA 2 128471001 128471001 deletion of <=200bp T - intron_variant PACA-CA 2 128472647 128472650 deletion of <=200bp TTTC - intron_variant PACA-CA 2 128474932 128474932 single base substitution G C intron_variant PACA-CA 2 128478316 128478316 single base substitution T C intron_variant PACA-CA 2 128480988 128480988 single base substitution A G downstream_gene_variant PACA-CA 2 128480988 128480988 single base substitution A G intron_variant PACA-CA 2 128493747 128493747 single base substitution G C 3_prime_UTR_variant PACA-CA 2 128493747 128493747 single base substitution G C intron_variant PACA-CA 2 128500114 128500114 single base substitution A G intron_variant PACA-CA 2 128500462 128500462 single base substitution C T intron_variant PACA-CA 2 128501044 128501044 single base substitution T C intron_variant PACA-CA 2 128503055 128503055 single base substitution G A intron_variant PACA-CA 2 128504692 128504692 single base substitution T C intron_variant PACA-CA 2 128509891 128509891 single base substitution G A intron_variant PACA-CA 2 128515421 128515421 single base substitution T C downstream_gene_variant PACA-CA 2 128515421 128515421 single base substitution T C intron_variant PACA-CA 2 128516688 128516688 single base substitution G A downstream_gene_variant PACA-CA 2 128516688 128516688 single base substitution G A intron_variant PACA-CA 2 128517459 128517459 single base substitution A T downstream_gene_variant PACA-CA 2 128517459 128517459 single base substitution A T intron_variant PACA-CA 2 128524790 128524790 deletion of <=200bp A - downstream_gene_variant PACA-CA 2 128524790 128524790 deletion of <=200bp A - intron_variant PACA-CA 2 128529831 128529831 single base substitution T C intron_variant PACA-CA 2 128531415 128531415 single base substitution G A intron_variant PACA-CA 2 128531505 128531505 insertion of <=200bp - T intron_variant PACA-CA 2 128532772 128532772 single base substitution T A intron_variant PACA-CA 2 128534119 128534119 insertion of <=200bp - A intron_variant PACA-CA 2 128534956 128534956 single base substitution G C intron_variant PACA-CA 2 128537649 128537649 single base substitution G A intron_variant PACA-CA 2 128539494 128539494 single base substitution C G intron_variant PACA-CA 2 128542355 128542355 insertion of <=200bp - CC intron_variant PACA-CA 2 128542359 128542359 deletion of <=200bp C - intron_variant PACA-CA 2 128545046 128545046 single base substitution T C intron_variant PACA-CA 2 128552446 128552446 insertion of <=200bp - TTCAAGCTG intron_variant PACA-CA 2 128553195 128553195 single base substitution T C intron_variant PACA-CA 2 128553692 128553692 single base substitution C T intron_variant PACA-CA 2 128554174 128554174 insertion of <=200bp - CT intron_variant PACA-CA 2 128555048 128555048 single base substitution A C intron_variant PACA-CA 2 128559840 128559840 single base substitution T C intron_variant PACA-CA 2 128560450 128560450 single base substitution G C intron_variant PACA-CA 2 128560748 128560748 deletion of <=200bp A - intron_variant PACA-CA 2 128563512 128563512 single base substitution A G intron_variant PACA-CA 2 128565292 128565292 insertion of <=200bp - G intron_variant PACA-CA 2 128567072 128567072 single base substitution C T intron_variant PACA-CA 2 128567637 128567637 single base substitution C T intron_variant PACA-CA 2 128570505 128570505 single base substitution A G upstream_gene_variant PACA-CA 2 128572864 128572864 single base substitution T C upstream_gene_variant PAEN-IT 2 128454689 128454689 single base substitution G A downstream_gene_variant PAEN-IT 2 128511396 128511396 single base substitution G T intron_variant PAEN-IT 2 128519907 128519907 single base substitution T A downstream_gene_variant PAEN-IT 2 128519907 128519907 single base substitution T A intron_variant PBCA-DE 2 128474730 128474730 single base substitution T A missense_variant K956N 2868A>T PBCA-DE 2 128475810 128475810 single base substitution C T intron_variant PBCA-DE 2 128487320 128487320 single base substitution C T intron_variant PBCA-DE 2 128497921 128497922 deletion of <=200bp AC - intron_variant PBCA-DE 2 128515018 128515018 single base substitution C A intron_variant PBCA-DE 2 128522907 128522907 single base substitution A C downstream_gene_variant PBCA-DE 2 128522907 128522907 single base substitution A C intron_variant PBCA-DE 2 128524296 128524296 deletion of <=200bp A - downstream_gene_variant PBCA-DE 2 128524296 128524296 deletion of <=200bp A - intron_variant PBCA-DE 2 128542663 128542663 insertion of <=200bp - A intron_variant PBCA-DE 2 128546382 128546382 insertion of <=200bp - A intron_variant PBCA-DE 2 128549199 128549199 single base substitution G C intron_variant PBCA-DE 2 128557968 128557968 single base substitution G A intron_variant PBCA-DE 2 128569942 128569942 insertion of <=200bp - A upstream_gene_variant PBCA-DE 2 128570569 128570569 single base substitution G A upstream_gene_variant PRAD-CA 2 128454836 128454836 single base substitution G A downstream_gene_variant PRAD-CA 2 128458017 128458017 single base substitution G T downstream_gene_variant PRAD-CA 2 128465888 128465888 single base substitution C A intron_variant PRAD-CA 2 128465889 128465889 single base substitution C A intron_variant PRAD-CA 2 128469354 128469354 single base substitution A T intron_variant PRAD-CA 2 128469597 128469597 single base substitution C T intron_variant PRAD-CA 2 128480912 128480912 single base substitution C T downstream_gene_variant PRAD-CA 2 128480912 128480912 single base substitution C T stop_gained W402* 1206G>A PRAD-CA 2 128497321 128497321 single base substitution C A intron_variant PRAD-CA 2 128503651 128503651 single base substitution C A intron_variant PRAD-CA 2 128505604 128505604 single base substitution A T intron_variant PRAD-CA 2 128551778 128551778 single base substitution C A intron_variant PRAD-UK 2 128466403 128466403 single base substitution G T missense_variant S1210Y 3629C>A PRAD-UK 2 128481456 128481456 single base substitution G A downstream_gene_variant PRAD-UK 2 128481456 128481456 single base substitution G A intron_variant PRAD-UK 2 128503124 128503126 deletion of <=200bp AAA - intron_variant PRAD-UK 2 128519773 128519773 single base substitution G A downstream_gene_variant PRAD-UK 2 128519773 128519773 single base substitution G A intron_variant PRAD-UK 2 128529535 128529535 single base substitution A C intron_variant PRAD-UK 2 128540304 128540304 single base substitution C A intron_variant PRAD-UK 2 128558689 128558689 insertion of <=200bp - G intron_variant PRAD-UK 2 128566957 128566957 deletion of <=200bp C - intron_variant PRAD-US 2 128467314 128467314 single base substitution G A missense_variant A1142V 3425C>T PRAD-US 2 128474753 128474753 single base substitution C T missense_variant G949R 2845G>A PRAD-US 2 128477088 128477088 single base substitution C A missense_variant Q837H 2511G>T READ-US 2 128463917 128463917 single base substitution C T missense_variant G1331S 3991G>A READ-US 2 128464065 128464065 single base substitution G A synonymous_variant D1281D 3843C>T READ-US 2 128477435 128477435 single base substitution G A missense_variant P722S 2164C>T READ-US 2 128477647 128477647 single base substitution C A missense_variant G651V 1952G>T READ-US 2 128477694 128477694 single base substitution C T missense_variant M635I 1905G>A READ-US 2 128480610 128480610 single base substitution C T downstream_gene_variant READ-US 2 128480610 128480610 single base substitution C T missense_variant E434K 1300G>A READ-US 2 128480616 128480616 single base substitution C A downstream_gene_variant READ-US 2 128480616 128480616 single base substitution C A missense_variant D432Y 1294G>T READ-US 2 128482644 128482644 single base substitution C T downstream_gene_variant READ-US 2 128482644 128482644 single base substitution C T missense_variant E333K 997G>A READ-US 2 128525832 128525832 single base substitution C A missense_variant M103I 309G>T READ-US 2 128525832 128525832 single base substitution C A missense_variant M25I 75G>T READ-US 2 128528416 128528416 single base substitution C T intron_variant READ-US 2 128528416 128528416 single base substitution C T missense_variant R47Q 140G>A RECA-EU 2 128457064 128457064 single base substitution A T downstream_gene_variant RECA-EU 2 128493963 128493963 single base substitution G C 3_prime_UTR_variant RECA-EU 2 128493963 128493963 single base substitution G C intron_variant RECA-EU 2 128494918 128494918 single base substitution C A 3_prime_UTR_variant RECA-EU 2 128494918 128494918 single base substitution C A intron_variant RECA-EU 2 128497120 128497120 single base substitution C G intron_variant RECA-EU 2 128500565 128500565 single base substitution T C intron_variant RECA-EU 2 128503547 128503547 single base substitution T C intron_variant RECA-EU 2 128505446 128505446 single base substitution A G intron_variant RECA-EU 2 128517503 128517503 single base substitution T C downstream_gene_variant RECA-EU 2 128517503 128517503 single base substitution T C intron_variant RECA-EU 2 128519616 128519616 single base substitution G A downstream_gene_variant RECA-EU 2 128519616 128519616 single base substitution G A intron_variant RECA-EU 2 128522575 128522575 single base substitution A C downstream_gene_variant RECA-EU 2 128522575 128522575 single base substitution A C intron_variant RECA-EU 2 128538804 128538804 single base substitution T G intron_variant RECA-EU 2 128552423 128552423 single base substitution A G intron_variant RECA-EU 2 128561413 128561413 single base substitution T C intron_variant RECA-EU 2 128562740 128562740 single base substitution C T intron_variant RECA-EU 2 128568000 128568000 single base substitution T G intron_variant RECA-EU 2 128570860 128570860 single base substitution G T upstream_gene_variant SKCA-BR 2 128454281 128454281 single base substitution A G downstream_gene_variant SKCA-BR 2 128454958 128454958 single base substitution G A downstream_gene_variant SKCA-BR 2 128455768 128455768 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 2 128456876 128456876 single base substitution G A downstream_gene_variant SKCA-BR 2 128457694 128457694 insertion of <=200bp - GTGTATATA downstream_gene_variant SKCA-BR 2 128457712 128457712 single base substitution A T downstream_gene_variant SKCA-BR 2 128466116 128466116 single base substitution G C intron_variant SKCA-BR 2 128468250 128468250 single base substitution G A intron_variant SKCA-BR 2 128470004 128470004 single base substitution G A intron_variant SKCA-BR 2 128470880 128470880 single base substitution G A intron_variant SKCA-BR 2 128471245 128471245 single base substitution G A missense_variant P1074S 3220C>T SKCA-BR 2 128471489 128471489 single base substitution A C synonymous_variant G992G 2976T>G SKCA-BR 2 128476281 128476281 single base substitution C T intron_variant SKCA-BR 2 128477009 128477009 single base substitution G A missense_variant P864S 2590C>T SKCA-BR 2 128477462 128477462 single base substitution G A missense_variant P713S 2137C>T SKCA-BR 2 128477681 128477681 single base substitution G A missense_variant P640S 1918C>T SKCA-BR 2 128480379 128480379 single base substitution G A downstream_gene_variant SKCA-BR 2 128480379 128480379 single base substitution G A intron_variant SKCA-BR 2 128481120 128481120 single base substitution C T downstream_gene_variant SKCA-BR 2 128481120 128481120 single base substitution C T intron_variant SKCA-BR 2 128482848 128482848 single base substitution C T downstream_gene_variant SKCA-BR 2 128482848 128482848 single base substitution C T intron_variant SKCA-BR 2 128486223 128486223 single base substitution G A intron_variant SKCA-BR 2 128495039 128495039 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 128495039 128495039 single base substitution G A intron_variant SKCA-BR 2 128503611 128503611 single base substitution T A intron_variant SKCA-BR 2 128504263 128504263 single base substitution G A intron_variant SKCA-BR 2 128507434 128507434 single base substitution G A intron_variant SKCA-BR 2 128512948 128512948 single base substitution G A intron_variant SKCA-BR 2 128516398 128516398 single base substitution G A downstream_gene_variant SKCA-BR 2 128516398 128516398 single base substitution G A intron_variant SKCA-BR 2 128516626 128516626 single base substitution G A downstream_gene_variant SKCA-BR 2 128516626 128516626 single base substitution G A intron_variant SKCA-BR 2 128525836 128525836 single base substitution G A missense_variant P102L 305C>T SKCA-BR 2 128525836 128525836 single base substitution G A missense_variant P24L 71C>T SKCA-BR 2 128525837 128525837 single base substitution G A missense_variant P102S 304C>T SKCA-BR 2 128525837 128525837 single base substitution G A missense_variant P24S 70C>T SKCA-BR 2 128526579 128526579 insertion of <=200bp - TTAAA splice_region_variant SKCA-BR 2 128529015 128529015 single base substitution T C intron_variant SKCA-BR 2 128532619 128532636 deletion of <=200bp CTTGCAACCTGACAGAGA - intron_variant SKCA-BR 2 128539573 128539573 insertion of <=200bp - TA intron_variant SKCA-BR 2 128544873 128544873 single base substitution T C intron_variant SKCA-BR 2 128545039 128545039 single base substitution G A intron_variant SKCA-BR 2 128545292 128545292 single base substitution A C intron_variant SKCA-BR 2 128545435 128545435 single base substitution T C intron_variant SKCA-BR 2 128545846 128545846 single base substitution C G intron_variant SKCA-BR 2 128545993 128545993 single base substitution A G intron_variant SKCA-BR 2 128546460 128546460 single base substitution G A intron_variant SKCA-BR 2 128548112 128548112 single base substitution G A intron_variant SKCA-BR 2 128550142 128550142 single base substitution T G intron_variant SKCA-BR 2 128550547 128550547 single base substitution A G intron_variant SKCA-BR 2 128551638 128551638 single base substitution T G intron_variant SKCA-BR 2 128551898 128551898 single base substitution A C intron_variant SKCA-BR 2 128551903 128551903 single base substitution A T intron_variant SKCA-BR 2 128555969 128555970 deletion of <=200bp AT - intron_variant SKCA-BR 2 128557569 128557569 single base substitution G A intron_variant SKCA-BR 2 128562449 128562449 single base substitution G A intron_variant SKCA-BR 2 128564868 128564868 single base substitution C A intron_variant SKCA-BR 2 128566293 128566293 single base substitution A C intron_variant SKCA-BR 2 128566605 128566606 deletion of <=200bp CA - intron_variant SKCA-BR 2 128567012 128567012 single base substitution T C intron_variant SKCA-BR 2 128567635 128567635 insertion of <=200bp - CACATATAT intron_variant SKCA-BR 2 128568810 128568810 single base substitution G A upstream_gene_variant SKCA-BR 2 128573463 128573463 insertion of <=200bp - TA upstream_gene_variant SKCM-US 2 128463994 128463994 single base substitution C T missense_variant R1305Q 3914G>A SKCM-US 2 128466428 128466428 single base substitution C T missense_variant D1202N 3604G>A SKCM-US 2 128467156 128467156 single base substitution C T missense_variant G1158E 3473G>A SKCM-US 2 128467267 128467267 single base substitution C A stop_gained G1158* 3472G>T SKCM-US 2 128467377 128467377 single base substitution C T missense_variant R1121K 3362G>A SKCM-US 2 128467387 128467387 single base substitution G A missense_variant P1118S 3352C>T SKCM-US 2 128471199 128471199 single base substitution C A missense_variant R1089L 3266G>T SKCM-US 2 128471302 128471302 single base substitution G A missense_variant P1055S 3163C>T SKCM-US 2 128471308 128471308 single base substitution G A missense_variant P1053S 3157C>T SKCM-US 2 128471452 128471452 single base substitution G A missense_variant P1005S 3013C>T SKCM-US 2 128471489 128471489 single base substitution A C synonymous_variant G992G 2976T>G SKCM-US 2 128474766 128474766 single base substitution G A synonymous_variant P944P 2832C>T SKCM-US 2 128476849 128476849 single base substitution G A missense_variant P917L 2750C>T SKCM-US 2 128477054 128477054 single base substitution G A missense_variant P849S 2545C>T SKCM-US 2 128477162 128477162 single base substitution G A missense_variant P813S 2437C>T SKCM-US 2 128477219 128477219 single base substitution G A stop_gained Q794* 2380C>T SKCM-US 2 128477426 128477426 single base substitution G A missense_variant P725S 2173C>T SKCM-US 2 128477498 128477498 single base substitution G A missense_variant P701S 2101C>T SKCM-US 2 128477558 128477558 single base substitution G A missense_variant P681S 2041C>T SKCM-US 2 128479482 128479482 single base substitution C G downstream_gene_variant SKCM-US 2 128479482 128479482 single base substitution C G missense_variant E533D 1599G>C SKCM-US 2 128480907 128480907 single base substitution C T downstream_gene_variant SKCM-US 2 128480907 128480907 single base substitution C T missense_variant R404Q 1211G>A SKCM-US 2 128520638 128520638 single base substitution C T 3_prime_UTR_variant SKCM-US 2 128520638 128520638 single base substitution C T missense_variant R163Q 488G>A SKCM-US 2 128520638 128520638 single base substitution C T missense_variant R241Q 722G>A SKCM-US 2 128520663 128520663 single base substitution G A 3_prime_UTR_variant SKCM-US 2 128520663 128520663 single base substitution G A missense_variant R155C 463C>T SKCM-US 2 128520663 128520663 single base substitution G A missense_variant R233C 697C>T SKCM-US 2 128522423 128522423 single base substitution T G downstream_gene_variant SKCM-US 2 128522423 128522423 single base substitution T G missense_variant K124T 371A>C SKCM-US 2 128522423 128522423 single base substitution T G missense_variant K202T 605A>C SKCM-US 2 128522429 128522429 single base substitution G A downstream_gene_variant SKCM-US 2 128522429 128522429 single base substitution G A missense_variant A122V 365C>T SKCM-US 2 128522429 128522429 single base substitution G A missense_variant A200V 599C>T SKCM-US 2 128525862 128525862 single base substitution G A synonymous_variant V15V 45C>T SKCM-US 2 128525862 128525862 single base substitution G A synonymous_variant V93V 279C>T SKCM-US 2 128528457 128528457 single base substitution T G intron_variant SKCM-US 2 128528457 128528457 single base substitution T G synonymous_variant A33A 99A>C STAD-US 2 128464123 128464123 single base substitution C T missense_variant R1262Q 3785G>A STAD-US 2 128466263 128466263 single base substitution G A stop_gained R1257* 3769C>T STAD-US 2 128466300 128466300 single base substitution G A synonymous_variant H1244H 3732C>T STAD-US 2 128471327 128471327 single base substitution C T synonymous_variant R1046R 3138G>A STAD-US 2 128471514 128471514 single base substitution C A missense_variant G984V 2951G>T STAD-US 2 128471545 128471545 single base substitution G A missense_variant R974W 2920C>T STAD-US 2 128471562 128471562 single base substitution C T missense_variant G968D 2903G>A STAD-US 2 128476878 128476878 single base substitution C T synonymous_variant T907T 2721G>A STAD-US 2 128476952 128476952 single base substitution G A missense_variant P883S 2647C>T STAD-US 2 128476972 128476972 single base substitution C T missense_variant G876D 2627G>A STAD-US 2 128477098 128477098 single base substitution C T missense_variant R834Q 2501G>A STAD-US 2 128477227 128477227 single base substitution C T missense_variant R791Q 2372G>A STAD-US 2 128477550 128477550 single base substitution A G synonymous_variant P683P 2049T>C STAD-US 2 128477600 128477600 single base substitution G A missense_variant R667W 1999C>T STAD-US 2 128477624 128477624 deletion of <=200bp G - frameshift_variant Q659 STAD-US 2 128477655 128477655 deletion of <=200bp C - frameshift_variant G648 STAD-US 2 128479496 128479496 single base substitution T C downstream_gene_variant STAD-US 2 128479496 128479496 single base substitution T C missense_variant I529V 1585A>G STAD-US 2 128480887 128480887 single base substitution T C downstream_gene_variant STAD-US 2 128480887 128480887 single base substitution T C missense_variant M411V 1231A>G STAD-US 2 128484243 128484260 deletion of <=200bp CCAGTCTTGGGATCCCAG - disruptive_inframe_deletion FWDPKTG194L STAD-US 2 128484243 128484260 deletion of <=200bp CCAGTCTTGGGATCCCAG - disruptive_inframe_deletion FWDPKTG272L STAD-US 2 128520648 128520648 single base substitution T A 3_prime_UTR_variant STAD-US 2 128520648 128520648 single base substitution T A stop_gained R160* 478A>T STAD-US 2 128520648 128520648 single base substitution T A stop_gained R238* 712A>T THCA-SA 2 128459747 128459747 insertion of <=200bp - TT 3_prime_UTR_variant THCA-US 2 128466403 128466403 single base substitution G C missense_variant S1210C 3629C>G THCA-US 2 128467330 128467330 single base substitution C T missense_variant D1137N 3409G>A THCA-US 2 128477839 128477839 single base substitution G C missense_variant P587R 1760C>G UCEC-US 2 128466385 128466385 single base substitution C A missense_variant R1216L 3647G>T UCEC-US 2 128467100 128467100 single base substitution G A missense_variant R1177W 3529C>T UCEC-US 2 128467397 128467397 single base substitution G A synonymous_variant G1114G 3342C>T UCEC-US 2 128471170 128471170 single base substitution G A missense_variant R1099C 3295C>T UCEC-US 2 128477181 128477181 single base substitution C T synonymous_variant P806P 2418G>A UCEC-US 2 128477318 128477318 single base substitution C T missense_variant G761R 2281G>A UCEC-US 2 128477378 128477378 single base substitution G A stop_gained Q741* 2221C>T UCEC-US 2 128477459 128477459 single base substitution G A stop_gained Q714* 2140C>T UCEC-US 2 128479416 128479416 single base substitution A C downstream_gene_variant UCEC-US 2 128479416 128479416 single base substitution A C synonymous_variant L555L 1665T>G UCEC-US 2 128479461 128479461 single base substitution T G downstream_gene_variant UCEC-US 2 128479461 128479461 single base substitution T G missense_variant E540D 1620A>C UCEC-US 2 128479537 128479537 single base substitution A C downstream_gene_variant UCEC-US 2 128479537 128479537 single base substitution A C missense_variant I515S 1544T>G UCEC-US 2 128481933 128481933 single base substitution G C downstream_gene_variant UCEC-US 2 128481933 128481933 single base substitution G C synonymous_variant L390L 1170C>G UCEC-US 2 128481935 128481935 single base substitution G T downstream_gene_variant UCEC-US 2 128481935 128481935 single base substitution G T missense_variant L390I 1168C>A UCEC-US 2 128481980 128481980 single base substitution C T downstream_gene_variant UCEC-US 2 128481980 128481980 single base substitution C T missense_variant E375K 1123G>A UCEC-US 2 128482480 128482480 single base substitution A C downstream_gene_variant UCEC-US 2 128482480 128482480 single base substitution A C missense_variant L356V 1066T>G UCEC-US 2 128482484 128482484 single base substitution A G downstream_gene_variant UCEC-US 2 128482484 128482484 single base substitution A G synonymous_variant G354G 1062T>C UCEC-US 2 128482778 128482778 single base substitution T A downstream_gene_variant UCEC-US 2 128482778 128482778 single base substitution T A missense_variant K288I 863A>T UCEC-US 2 128520647 128520647 single base substitution C A 3_prime_UTR_variant UCEC-US 2 128520647 128520647 single base substitution C A missense_variant R160I 479G>T UCEC-US 2 128520647 128520647 single base substitution C A missense_variant R238I 713G>T UCEC-US 2 128522061 128522061 single base substitution C A downstream_gene_variant UCEC-US 2 128522061 128522061 single base substitution C A intron_variant UCEC-US 2 128522061 128522061 single base substitution C A stop_gained E323* 967G>T UCEC-US 2 128522104 128522104 single base substitution A C downstream_gene_variant UCEC-US 2 128522104 128522104 single base substitution A C intron_variant UCEC-US 2 128522104 128522104 single base substitution A C missense_variant F308L 924T>G UCEC-US 2 128522458 128522458 single base substitution C T downstream_gene_variant UCEC-US 2 128522458 128522458 single base substitution C T synonymous_variant S112S 336G>A UCEC-US 2 128522458 128522458 single base substitution C T synonymous_variant S190S 570G>A UCEC-US 2 128528495 128528495 single base substitution C T intron_variant UCEC-US 2 128528495 128528495 single base substitution C T missense_variant A21T 61G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BR-6452-01 COSM4084733 c.3138G>A p.R1046R Substitution - coding silent 2:127713753-127713753 - CSCC-35-T COSM4456795 c.1021C>T p.P341S Substitution - Missense 2:127724951-127724951 - YUOMEGA COSM3894701 c.2101C>T p.P701S Substitution - Missense 2:127719924-127719924 - TCGA-D1-A15X-01 COSM1006314 c.3529C>T p.R1177W Substitution - Missense 2:127709526-127709526 - TCGA-37-4133-01 COSM715889 c.3151G>T p.G1051W Substitution - Missense 2:127713740-127713740 - C135 COSM4618090 c.1288T>A p.Y430N Substitution - Missense 2:127723256-127723256 - TCGA-AP-A0LM-01 COSM1006325 c.1168C>A p.L390I Substitution - Missense 2:127724361-127724361 - TCGA-EE-A2MR-06 COSM3042915 c.697C>T p.R233C Substitution - Missense 2:127763089-127763089 - 66 COSM5742878 c.3827G>A p.R1276H Substitution - Missense 2:127706507-127706507 - TCGA-EI-6917-01 COSM3425180 c.140G>A p.R47Q Substitution - Missense 2:127770842-127770842 - TCGA-HU-A4GQ-01 COSM4084731 c.3769C>T p.R1257* Substitution - Nonsense 2:127708689-127708689 - SNU-C2B COSM3042953 c.176A>G p.Y59C Substitution - Missense 2:127770806-127770806 - 193 COSM3724169 c.3670G>A p.D1224N Substitution - Missense 2:127708788-127708788 - PT33 COSM5895250 c.205-4_205-3insTTTA p.? Unknown 2:127769004-127769005 - TCGA-AP-A059-01 COSM1006315 c.3342C>T p.G1114G Substitution - coding silent 2:127709823-127709823 - J30_T COSM3961108 c.725-2A>T p.? Unknown 2:127726779-127726779 - CSCC-31-T COSM4472045 c.1756C>T p.Q586* Substitution - Nonsense 2:127720269-127720269 - TCGA-DD-A1EF-01 COSM4915746 c.2830C>A p.P944T Substitution - Missense 2:127717194-127717194 - HCC018T COSM5820161 c.2700A>T p.I900I Substitution - coding silent 2:127719325-127719325 - LUAD-5V8LT COSM402007 c.1123G>A p.E375K Substitution - Missense 2:127724406-127724406 - SW1417 COSM3042883 c.2012T>C p.M671T Substitution - Missense 2:127720013-127720013 - TCGA-AX-A0J1-01 COSM1006317 c.2418G>A p.P806P Substitution - coding silent 2:127719607-127719607 - TCGA-A2-A25E-01 COSM1481912 c.250C>T p.P84S Substitution - Missense 2:127768956-127768956 - TCGA-EE-A29E-06 COSM3566228 c.279C>T p.V93V Substitution - coding silent 2:127768288-127768288 - CSCC-44-T COSM4541933 c.3097G>C p.E1033Q Substitution - Missense 2:127713794-127713794 - TCGA-DD-A39Z-01 COSM4916019 c.1277A>G p.D426G Substitution - Missense 2:127723267-127723267 - LS180 COSM3042899 c.1132A>G p.I378V Substitution - Missense 2:127724397-127724397 - 587376 COSM1232573 c.1713A>C p.Q571H Substitution - Missense 2:127720312-127720312 - CRC-19T COSM5481620 c.3090T>C p.R1030R Substitution - coding silent 2:127713801-127713801 - TCGA-DJ-A4UT-01 COSM3372410 c.3409G>A p.D1137N Substitution - Missense 2:127709756-127709756 - TCGA-A3-3373-01 COSM1494608 c.2922G>A p.R974R Substitution - coding silent 2:127713969-127713969 - CSCC-31-T COSM4539165 c.2654G>A p.G885E Substitution - Missense 2:127719371-127719371 - HCC6 COSM1613375 c.2288G>C p.G763A Substitution - Missense 2:127719737-127719737 - T1154 COSM4740937 c.1720C>A p.P574T Substitution - Missense 2:127720305-127720305 - PD8610a COSM5789140 c.1558G>A p.E520K Substitution - Missense 2:127721949-127721949 - TCGA-DJ-A3UN-01 COSM3372409 c.3629C>G p.S1210C Substitution - Missense 2:127708829-127708829 - TCGA-B5-A11R-01 COSM1006324 c.1170C>G p.L390L Substitution - coding silent 2:127724359-127724359 - TCGA-D9-A6EC-06 COSM4401775 c.605A>C p.K202T Substitution - Missense 2:127764849-127764849 - TCGA-66-2763-01 COSM715891 c.3274G>T p.E1092* Substitution - Nonsense 2:127713617-127713617 - PD9702a COSM5793979 c.1874A>C p.Q625P Substitution - Missense 2:127720151-127720151 - GCT27 COSM5749321 c.2709G>C p.Q903H Substitution - Missense 2:127719316-127719316 - ESO-887 COSM1270390 c.467T>C p.I156T Substitution - Missense 2:127765181-127765181 - TCGA-ER-A198-06 COSM3566213 c.3157C>T p.P1053S Substitution - Missense 2:127713734-127713734 - ESCC_55 COSM3797944 c.664G>C p.D222H Substitution - Missense 2:127763122-127763122 - TCGA-B5-A11E-01 COSM402007 c.1123G>A p.E375K Substitution - Missense 2:127724406-127724406 - TCGA-BR-4362-01 COSM4084744 c.1231A>G p.M411V Substitution - Missense 2:127723313-127723313 - TCGA-D1-A177-01 COSM1006320 c.2140C>T p.Q714* Substitution - Nonsense 2:127719885-127719885 - TCGA-DU-5872-01 COSM3971552 c.474G>C p.Q158H Substitution - Missense 2:127765174-127765174 - T613 COSM4740935 c.3770G>A p.R1257Q Substitution - Missense 2:127708688-127708688 - PT37 COSM5917939 c.1817C>T p.P606L Substitution - Missense 2:127720208-127720208 - LUAD-5V8LT COSM402006 c.1417G>T p.G473C Substitution - Missense 2:127722692-127722692 - TCGA-CM-5861-01 COSM441103 c.3923G>A p.R1308Q Substitution - Missense 2:127706411-127706411 - GC_353T-GC_353N COSM4773375 c.639G>A p.T213T Substitution - coding silent 2:127763147-127763147 - 399 COSM3396439 c.569C>T p.S190L Substitution - Missense 2:127764885-127764885 - HCC163T COSM3708877 c.590T>G p.M197R Substitution - Missense 2:127764864-127764864 - PDA_043 COSM5000339 c.3062C>G p.P1021R Substitution - Missense 2:127713829-127713829 - 8036161 COSM3390926 c.3650C>T p.S1217F Substitution - Missense 2:127708808-127708808 - ESOSCC162T COSM1172800 c.1111G>T p.E371* Substitution - Nonsense 2:127724418-127724418 - TCGA-ER-A193-06 COSM3566215 c.2750C>T p.P917L Substitution - Missense 2:127719275-127719275 - RK214_C01 COSM3744000 c.152C>T p.A51V Substitution - Missense 2:127770830-127770830 - ESCC-002T COSM3938494 c.471A>G p.L157L Substitution - coding silent 2:127765177-127765177 - TCGA-EI-6917-01 COSM3425175 c.1300G>A p.E434K Substitution - Missense 2:127723036-127723036 - TCGA-EI-6917-01 COSM3425176 c.1294G>T p.D432Y Substitution - Missense 2:127723042-127723042 - TCGA-02-2483-01 COSM3406846 c.2989A>G p.R997G Substitution - Missense 2:127713902-127713902 - YUHEF COSM1691021 c.2830C>T p.P944S Substitution - Missense 2:127717194-127717194 - PT48 COSM5931186 c.1804C>T p.Q602* Substitution - Nonsense 2:127720221-127720221 - TCGA-D5-6930-01 COSM1399291 c.1095G>A p.K365K Substitution - coding silent 2:127724434-127724434 - T3090 COSM4740938 c.504G>A p.T168T Substitution - coding silent 2:127764950-127764950 - 628-05-01TD COSM5419529 c.2794C>A p.P932T Substitution - Missense 2:127717230-127717230 - V-PH-12T COSM4770358 c.2366G>T p.G789V Substitution - Missense 2:127719659-127719659 - 255 COSM3732023 c.851T>G p.L284R Substitution - Missense 2:127726651-127726651 - TCGA-D1-A16X-01 COSM1006322 c.1620A>C p.E540D Substitution - Missense 2:127721887-127721887 - TCGA-AF-6655-01 COSM1564820 c.2164C>T p.P722S Substitution - Missense 2:127719861-127719861 - SNU-175 COSM3042856 c.2879G>A p.R960H Substitution - Missense 2:127714012-127714012 - TCGA-FW-A3R5-06 COSM3894700 c.2437C>T p.P813S Substitution - Missense 2:127719588-127719588 - TCGA-BR-4184-01 COSM3042852 c.2920C>T p.R974W Substitution - Missense 2:127713971-127713971 - PT21_2 COSM289815 c.3289C>T p.R1097* Substitution - Nonsense 2:127713602-127713602 - TCGA-AP-A056-01 COSM1006332 c.570G>A p.S190S Substitution - coding silent 2:127764884-127764884 - PT46 COSM5895250 c.205-4_205-3insTTTA p.? Unknown 2:127769004-127769005 - 12924 COSM5617083 c.1378+10G>A p.? Unknown 2:127722948-127722948 - RMH002-R1 COSM4411126 c.3698G>C p.R1233P Substitution - Missense 2:127708760-127708760 - QC2-39-T2 COSM5655444 c.1097A>G p.E366G Substitution - Missense 2:127724432-127724432 - TCGA-AP-A059-01 COSM1006316 c.3295C>T p.R1099C Substitution - Missense 2:127713596-127713596 - AOCS-166-1-2 COSM4136154 c.2043T>G p.P681P Substitution - coding silent 2:127719982-127719982 - DLD1 COSM4624371 c.3342C>A p.G1114G Substitution - coding silent 2:127709823-127709823 - 07-P075 COSM4582640 c.2131C>T p.P711S Substitution - Missense 2:127719894-127719894 - YUCLAT COSM1691020 c.3352C>T p.P1118S Substitution - Missense 2:127709813-127709813 - 188 COSM1741593 c.2821G>A p.G941S Substitution - Missense 2:127717203-127717203 - CSCC-27-T COSM289815 c.3289C>T p.R1097* Substitution - Nonsense 2:127713602-127713602 - PD4099a COSM165564 c.1986C>T p.P662P Substitution - coding silent 2:127720039-127720039 - YUGISMO COSM1691023 c.2056C>T p.P686S Substitution - Missense 2:127719969-127719969 - TCGA-AA-3663-01 COSM1399290 c.2295A>G p.Q765Q Substitution - coding silent 2:127719730-127719730 - TCGA-D1-A17Q-01 COSM1006329 c.713G>T p.R238I Substitution - Missense 2:127763073-127763073 - YUGURT COSM5394297 c.2886T>C p.P962P Substitution - coding silent 2:127714005-127714005 - TCGA-EE-A181-06 COSM3566208 c.3604G>A p.D1202N Substitution - Missense 2:127708854-127708854 - 19 COSM5745950 c.2695C>T p.P899S Substitution - Missense 2:127719330-127719330 - TCGA-AX-A06B-01 COSM1006323 c.1544T>G p.I515S Substitution - Missense 2:127721963-127721963 - SNUH_G15_S1 COSM3682309 c.3953A>C p.N1318T Substitution - Missense 2:127706381-127706381 - ESCC_11 COSM5624445 c.669C>G p.D223E Substitution - Missense 2:127763117-127763117 - B101-Tumor COSM3933307 c.1402G>A p.E468K Substitution - Missense 2:127722707-127722707 - 476 COSM4438506 c.3848A>T p.E1283V Substitution - Missense 2:127706486-127706486 - CSCC-55-T COSM4491339 c.3794C>T p.P1265L Substitution - Missense 2:127706540-127706540 - TCGA-66-2788-01 COSM715885 c.538G>T p.D180Y Substitution - Missense 2:127764916-127764916 - B85-0 COSM1752020 c.3915A>T p.R1305R Substitution - coding silent 2:127706419-127706419 - PT34 COSM5895250 c.205-4_205-3insTTTA p.? Unknown 2:127769004-127769005 - LS174T COSM3042899 c.1132A>G p.I378V Substitution - Missense 2:127724397-127724397 - TCGA-CM-6674-01 COSM1399283 c.3844G>A p.G1282R Substitution - Missense 2:127706490-127706490 - 66 COSM5742879 c.3008G>A p.R1003H Substitution - Missense 2:127713883-127713883 - TCGA-HT-7902-01 COSM3894699 c.2976T>G p.G992G Substitution - coding silent 2:127713915-127713915 - TCGA-BR-8680-01 COSM4084735 c.2903G>A p.G968D Substitution - Missense 2:127713988-127713988 - CSCC-49-T COSM4565250 c.1909_1910CC>TT p.P637L Substitution - Missense 2:127720115-127720116 - RKO COSM3042859 c.2720C>T p.T907M Substitution - Missense 2:127719305-127719305 - RMH002-R2 COSM4411126 c.3698G>C p.R1233P Substitution - Missense 2:127708760-127708760 - 2250168 COSM5030665 c.1650_1651insACTA p.P553fs*1 Insertion - Frameshift 2:127721856-127721857 - TCGA-BW-A5NP-01 COSM4942680 c.2101C>A p.P701T Substitution - Missense 2:127719924-127719924 - HCC163 COSM3708877 c.590T>G p.M197R Substitution - Missense 2:127764864-127764864 - TCGA-AF-5654-01 COSM1564821 c.3991G>A p.G1331S Substitution - Missense 2:127706343-127706343 - TCGA-CG-4306-01 COSM4084736 c.2721G>A p.T907T Substitution - coding silent 2:127719304-127719304 - EGC15 COSM5058048 c.2882G>A p.G961D Substitution - Missense 2:127714009-127714009 - GC_350T-GC_350N COSM4771955 c.3619G>A p.D1207N Substitution - Missense 2:127708839-127708839 - Pat_22_B COSM5860072 c.3373C>T p.P1125S Substitution - Missense 2:127709792-127709792 - TCGA-BR-4370-01 COSM4084740 c.2372G>A p.R791Q Substitution - Missense 2:127719653-127719653 - TCGA-AP-A059-01 COSM1006313 c.3647G>T p.R1216L Substitution - Missense 2:127708811-127708811 - RMH002-R7 COSM4411126 c.3698G>C p.R1233P Substitution - Missense 2:127708760-127708760 - TCGA-22-4613-01 COSM715887 c.1948C>A p.Q650K Substitution - Missense 2:127720077-127720077 - TCGA-FW-A3R5-06 COSM3894701 c.2101C>T p.P701S Substitution - Missense 2:127719924-127719924 - S00035 COSM5656758 c.2687C>T p.S896F Substitution - Missense 2:127719338-127719338 - LUAD-TLLGS COSM347616 c.2206G>T p.G736C Substitution - Missense 2:127719819-127719819 - TCGA-EE-A2MC-06 COSM3566216 c.2545C>T p.P849S Substitution - Missense 2:127719480-127719480 - NCI-H720 COSM3042889 c.1846C>G p.Q616E Substitution - Missense 2:127720179-127720179 - TCGA-EJ-7123-01 COSM3673473 c.2845G>A p.G949R Substitution - Missense 2:127717179-127717179 - TCGA-A8-A0A6-01 COSM3836774 c.3059A>C p.H1020P Substitution - Missense 2:127713832-127713832 - TCGA-D8-A1XQ-01 COSM3836772 c.3649T>C p.S1217P Substitution - Missense 2:127708809-127708809 - TCGA-CA-6717-01 COSM1399292 c.873A>C p.V291V Substitution - coding silent 2:127725194-127725194 - S00833 COSM316525 c.3031G>T p.D1011Y Substitution - Missense 2:127713860-127713860 - TCGA-33-4566-01 COSM715888 c.2222A>T p.Q741L Substitution - Missense 2:127719803-127719803 - TCGA-EI-6882-01 COSM3042823 c.3843C>T p.D1281D Substitution - coding silent 2:127706491-127706491 - TCGA-HC-8216-01 COSM3673474 c.2511G>T p.Q837H Substitution - Missense 2:127719514-127719514 - TCGA-D9-A3Z1-06 COSM3566218 c.2173C>T p.P725S Substitution - Missense 2:127719852-127719852 - TCGA-F5-6814-01 COSM3425177 c.309G>T p.M103I Substitution - Missense 2:127768258-127768258 - 32T COSM3714004 c.3333G>T p.R1111S Substitution - Missense 2:127709832-127709832 - TCGA-BR-4280-01 COSM4084739 c.2501G>A p.R834Q Substitution - Missense 2:127719524-127719524 - Pat_63_A COSM5860073 c.2274C>G p.I758M Substitution - Missense 2:127719751-127719751 - TCGA-B5-A11E-01 COSM1006334 c.61G>A p.A21T Substitution - Missense 2:127770921-127770921 - YUROL COSM5394298 c.1906G>A p.G636R Substitution - Missense 2:127720119-127720119 - RK156_C01 COSM3701931 c.2541A>G p.G847G Substitution - coding silent 2:127719484-127719484 - ATL081 COSM3042856 c.2879G>A p.R960H Substitution - Missense 2:127714012-127714012 - CPCG0103-P4 COSM3396439 c.569C>T p.S190L Substitution - Missense 2:127764885-127764885 - 1N41-VS-1T41 COSM4975511 c.1406T>C p.M469T Substitution - Missense 2:127722703-127722703 - TCGA-EE-A181-06 COSM3566220 c.1599G>C p.E533D Substitution - Missense 2:127721908-127721908 - CSCC-31-T COSM4485953 c.2998C>T p.P1000S Substitution - Missense 2:127713893-127713893 - RK261_C02 COSM4943925 c.3462T>A p.G1154G Substitution - coding silent 2:127709703-127709703 - 288 COSM3724168 c.3680C>T p.S1227F Substitution - Missense 2:127708778-127708778 - RMH002-R3 COSM4411126 c.3698G>C p.R1233P Substitution - Missense 2:127708760-127708760 - TCGA-29-1776-01 COSM1325936 c.154G>C p.V52L Substitution - Missense 2:127770828-127770828 - TCGA-AA-3492-01 COSM1399286 c.3266G>A p.R1089Q Substitution - Missense 2:127713625-127713625 - 37M COSM225474 c.3163C>T p.P1055S Substitution - Missense 2:127713728-127713728 - TCGA-GD-A2C5-01 COSM1305622 c.3807G>C p.Q1269H Substitution - Missense 2:127706527-127706527 - TCGA-CD-A4MG-01 COSM4084742 c.1999C>T p.R667W Substitution - Missense 2:127720026-127720026 - LOVO COSM3042828 c.3622G>A p.G1208S Substitution - Missense 2:127708836-127708836 - TCGA-D3-A5GO-06 COSM225474 c.3163C>T p.P1055S Substitution - Missense 2:127713728-127713728 - TCGA-EE-A2A2-06 COSM3566211 c.3362G>A p.R1121K Substitution - Missense 2:127709803-127709803 - PD6422a COSM5799679 c.1429G>T p.G477* Substitution - Nonsense 2:127722680-127722680 - TCGA-EB-A5UN-06 COSM3566231 c.99A>C p.A33A Substitution - coding silent 2:127770883-127770883 - TCGA-GN-A268-06 COSM3566222 c.722G>A p.R241Q Substitution - Missense 2:127763064-127763064 - K-562 COSM1683871 c.962_964delAAG p.E323delE Deletion - In frame 2:127725103-127725105 - 3N52-VS-3T52 COSM4983464 c.3830C>G p.S1277C Substitution - Missense 2:127706504-127706504 - TCGA-CM-5861-01 COSM1399284 c.3791delG p.G1264fs*17 Deletion - Frameshift 2:127706543-127706543 - PD4100a COSM165565 c.723A>C p.R241R Substitution - coding silent 2:127763063-127763063 - CHOL20 COSM1744740 c.440A>G p.N147S Substitution - Missense 2:127765208-127765208 - RMH002-R6 COSM4411126 c.3698G>C p.R1233P Substitution - Missense 2:127708760-127708760 - HT55 COSM3042905 c.947A>C p.D316A Substitution - Missense 2:127725120-127725120 - TCGA-CD-5799-01 COSM4084741 c.2049T>C p.P683P Substitution - coding silent 2:127719976-127719976 - ESCC_BICR_070T COSM5444998 c.1092G>A p.E364E Substitution - coding silent 2:127724437-127724437 - TCGA-AN-A046-01 COSM289815 c.3289C>T p.R1097* Substitution - Nonsense 2:127713602-127713602 - Pat_41_B COSM5860074 c.1759C>T p.P587S Substitution - Missense 2:127720266-127720266 - cSCCP4 COSM138320 c.1981C>T p.P661S Substitution - Missense 2:127720044-127720044 - 19 COSM5745949 c.3146G>A p.G1049D Substitution - Missense 2:127713745-127713745 - TCGA-BS-A0UV-01 COSM1006326 c.1066T>G p.L356V Substitution - Missense 2:127724906-127724906 - HCC6T COSM1613375 c.2288G>C p.G763A Substitution - Missense 2:127719737-127719737 - TCGA-ED-A4XI-01 COSM4913349 c.615T>C p.I205I Substitution - coding silent 2:127764839-127764839 - YUOTHO COSM5394299 c.1726C>T p.P576S Substitution - Missense 2:127720299-127720299 - TCGA-EE-A181-06 COSM3566210 c.3472G>T p.G1158* Substitution - Nonsense 2:127709693-127709693 - TCGA-G4-6586-01 COSM1399287 c.2739G>A p.G913G Substitution - coding silent 2:127719286-127719286 - TCGA-AA-A00J-01 COSM273801 c.3867_3868delCA p.H1289fs*3 Deletion - Frameshift 2:127706466-127706467 - CRC-02T COSM1006314 c.3529C>T p.R1177W Substitution - Missense 2:127709526-127709526 - TCGA-BR-8591-01 COSM4084742 c.1999C>T p.R667W Substitution - Missense 2:127720026-127720026 - P05-3436 COSM203550 c.3430C>T p.R1144* Substitution - Nonsense 2:127709735-127709735 - TCGA-AO-A12E-01 COSM3042872 c.2448A>G p.P816P Substitution - coding silent 2:127719577-127719577 - TCGA-AC-A23H-01 COSM3836775 c.2531C>G p.S844* Substitution - Nonsense 2:127719494-127719494 - TCGA-DC-6154-01 COSM3425173 c.1952G>T p.G651V Substitution - Missense 2:127720073-127720073 - YUDIALE COSM1691022 c.2449G>A p.G817S Substitution - Missense 2:127719576-127719576 - EW8 COSM3042824 c.3827G>C p.R1276P Substitution - Missense 2:127706507-127706507 - TCGA-BQ-7048-01 COSM3990569 c.273+1G>T p.? Unknown 2:127768932-127768932 - H358 COSM1194135 c.3975G>C p.R1325S Substitution - Missense 2:127706359-127706359 - PT09_1 COSM5895250 c.205-4_205-3insTTTA p.? Unknown 2:127769004-127769005 - TCGA-EE-A29S-06 COSM3566213 c.3157C>T p.P1053S Substitution - Missense 2:127713734-127713734 - BRC13 COSM5025706 c.1930C>G p.Q644E Substitution - Missense 2:127720095-127720095 - TCGA-EE-A181-06 COSM3566209 c.3473G>A p.G1158E Substitution - Missense 2:127709582-127709582 - 204T COSM1399283 c.3844G>A p.G1282R Substitution - Missense 2:127706490-127706490 - TCGA-GC-A3I6-01 COSM1305623 c.2331G>T p.M777I Substitution - Missense 2:127719694-127719694 - 017T COSM1727852 c.494G>T p.R165M Substitution - Missense 2:127764960-127764960 - HT115 COSM3042893 c.1630G>T p.E544* Substitution - Nonsense 2:127721877-127721877 - 587376 COSM167270 c.3586C>T p.R1196C Substitution - Missense 2:127708872-127708872 - MDA-N COSM1669247 c.2304A>T p.Q768H Substitution - Missense 2:127719721-127719721 - TCGA-BT-A3PJ-01 COSM3797943 c.931C>G p.L311V Substitution - Missense 2:127725136-127725136 - 8031073 COSM3772422 c.205-2A>T p.? Unknown 2:127769003-127769003 - TCGA-EE-A2MS-06 COSM3566221 c.1211G>A p.R404Q Substitution - Missense 2:127723333-127723333 - TCGA-BR-4201-01 COSM4084732 c.3732C>T p.H1244H Substitution - coding silent 2:127708726-127708726 - TCGA-AD-6964-01 COSM1399288 c.2644G>A p.G882R Substitution - Missense 2:127719381-127719381 - TCGA-51-4079-01 COSM715890 c.3159G>T p.P1053P Substitution - coding silent 2:127713732-127713732 - CHEWS015 COSM4582639 c.2486G>A p.G829D Substitution - Missense 2:127719539-127719539 - TCGA-FJ-A3Z7-01 COSM3797944 c.664G>C p.D222H Substitution - Missense 2:127763122-127763122 - Gp2D COSM3042856 c.2879G>A p.R960H Substitution - Missense 2:127714012-127714012 - T3182 COSM4740941 c.103C>T p.Q35* Substitution - Nonsense 2:127770879-127770879 - SW480 COSM4655810 c.3927T>G p.S1309R Substitution - Missense 2:127706407-127706407 - TCGA-AP-A0LM-01 COSM1006321 c.1665T>G p.L555L Substitution - coding silent 2:127721842-127721842 - Gp5D COSM3042856 c.2879G>A p.R960H Substitution - Missense 2:127714012-127714012 - TCGA-18-3409-01 COSM715883 c.257C>T p.A86V Substitution - Missense 2:127768949-127768949 - ME020T COSM225474 c.3163C>T p.P1055S Substitution - Missense 2:127713728-127713728 - TCGA-EE-A3J7-06 COSM3894698 c.3013C>T p.P1005S Substitution - Missense 2:127713878-127713878 - 32T COSM3714005 c.2271G>T p.G757G Substitution - coding silent 2:127719754-127719754 - TCGA-A8-A09G-01 COSM441102 c.3962C>G p.S1321C Substitution - Missense 2:127706372-127706372 - TCGA-IR-A3LH-01 COSM4832868 c.3836C>G p.S1279C Substitution - Missense 2:127706498-127706498 - MDA-MB-435 COSM1669247 c.2304A>T p.Q768H Substitution - Missense 2:127719721-127719721 - TCGA-ER-A19F-06 COSM3566214 c.2832C>T p.P944P Substitution - coding silent 2:127717192-127717192 - TCGA-B0-5083-01 COSM1494609 c.3081C>T p.H1027H Substitution - coding silent 2:127713810-127713810 - ESCC_BICR_070T COSM5444997 c.1407G>A p.M469I Substitution - Missense 2:127722702-127722702 - RW2982 COSM4649652 c.168C>T p.T56T Substitution - coding silent 2:127770814-127770814 - TCGA-FW-A3TU-06 COSM3894699 c.2976T>G p.G992G Substitution - coding silent 2:127713915-127713915 - 2492730 COSM5729117 c.3948G>A p.G1316G Substitution - coding silent 2:127706386-127706386 - TCGA-EB-A431-01 COSM3566219 c.2041C>T p.P681S Substitution - Missense 2:127719984-127719984 - TCGA-D8-A27H-01 COSM1481911 c.3083G>A p.R1028Q Substitution - Missense 2:127713808-127713808 - LUAD-NYU184 COSM370824 c.785G>A p.G262E Substitution - Missense 2:127726717-127726717 - ESCC_BICR_070T COSM5444996 c.1602G>C p.K534N Substitution - Missense 2:127721905-127721905 - 61 COSM5736196 c.2573C>T p.S858L Substitution - Missense 2:127719452-127719452 - WA35 COSM238432 c.2982G>A p.Q994Q Substitution - coding silent 2:127713909-127713909 - RK115_C01 COSM1631273 c.3977G>A p.R1326Q Substitution - Missense 2:127706357-127706357 - CSCC-27-T COSM4480145 c.2392C>T p.P798S Substitution - Missense 2:127719633-127719633 - TCGA-AX-A0J0-01 COSM1006328 c.863A>T p.K288I Substitution - Missense 2:127725204-127725204 - BD124T COSM5491468 c.379-10delT p.? Unknown 2:127765279-127765279 - OSCC-GB_00320111 COSM3714005 c.2271G>T p.G757G Substitution - coding silent 2:127719754-127719754 - TCGA-EX-A1H6-01 COSM4848898 c.2813G>A p.G938E Substitution - Missense 2:127717211-127717211 - TCGA-CA-6718-01 COSM1232574 c.647A>C p.K216T Substitution - Missense 2:127763139-127763139 - TCGA-CK-5916-01 COSM1399295 c.205A>G p.N69D Substitution - Missense 2:127769001-127769001 - 1N26-VS-1T26 COSM4973521 c.1750G>T p.G584* Substitution - Nonsense 2:127720275-127720275 - TCGA-EE-A3JI-06 COSM3566217 c.2380C>T p.Q794* Substitution - Nonsense 2:127719645-127719645 - S0091 COSM5883250 c.1454A>G p.D485G Substitution - Missense 2:127722655-127722655 - TCGA-C8-A130-01 COSM441103 c.3923G>A p.R1308Q Substitution - Missense 2:127706411-127706411 - TCGA-FU-A3HZ-01 COSM3042848 c.3139C>T p.R1047* Substitution - Nonsense 2:127713752-127713752 - 394 COSM4428539 c.169A>G p.I57V Substitution - Missense 2:127770813-127770813 - TCGA-BR-8361-01 COSM4084734 c.2951G>T p.G984V Substitution - Missense 2:127713940-127713940 - ESO-175 COSM1270389 c.2335T>A p.L779M Substitution - Missense 2:127719690-127719690 - PT15_1 COSM5897416 c.1210C>T p.R404* Substitution - Nonsense 2:127723334-127723334 - SW48 COSM3042894 c.1609delA p.T537fs*76 Deletion - Frameshift 2:127721898-127721898 - 0079_CRUK_PC_0079_T1_DNA COSM5420872 c.3629C>A p.S1210Y Substitution - Missense 2:127708829-127708829 - PAPNNX COSM441103 c.3923G>A p.R1308Q Substitution - Missense 2:127706411-127706411 - TCGA-CZ-5468-01 COSM475883 c.1899A>T p.G633G Substitution - coding silent 2:127720126-127720126 - TCGA-DU-7301-01 COSM3971551 c.2168C>T p.P723L Substitution - Missense 2:127719857-127719857 - OSCC-GB_01290111 COSM5955306 c.2186T>G p.L729W Substitution - Missense 2:127719839-127719839 - TCGA-EB-A5UM-01 COSM3566225 c.599C>T p.A200V Substitution - Missense 2:127764855-127764855 - TCGA-A2-A0SY-01 COSM441105 c.2603C>G p.S868C Substitution - Missense 2:127719422-127719422 - pfg019T COSM1641639 c.544G>A p.G182R Substitution - Missense 2:127764910-127764910 - 8061178 COSM3390927 c.3551G>C p.G1184A Substitution - Missense 2:127709504-127709504 - TCGA-DA-A1I0-06 COSM1691020 c.3352C>T p.P1118S Substitution - Missense 2:127709813-127709813 - TCGA-HU-8602-01 COSM4084745 c.712A>T p.R238* Substitution - Nonsense 2:127763074-127763074 - TCGA-G9-6366-01 COSM3042835 c.3425C>T p.A1142V Substitution - Missense 2:127709740-127709740 - TCGA-EI-6882-01 COSM3425174 c.1905G>A p.M635I Substitution - Missense 2:127720120-127720120 - TCGA-F5-6812-01 COSM1564819 c.997G>A p.E333K Substitution - Missense 2:127725070-127725070 - TCGA-BT-A3PJ-01 COSM3797942 c.3337G>A p.E1113K Substitution - Missense 2:127709828-127709828 - OSCC-GB_00320111 COSM3714004 c.3333G>T p.R1111S Substitution - Missense 2:127709832-127709832 - PD17981a COSM5767938 c.3557G>T p.R1186I Substitution - Missense 2:127709498-127709498 - MO_1071 COSM5564203 c.3515G>A p.R1172H Substitution - Missense 2:127709540-127709540 - B85-0-Tumor COSM1752020 c.3915A>T p.R1305R Substitution - coding silent 2:127706419-127706419 - XHDG01C COSM4770151 c.205-5_205-4insTTTA p.? Unknown 2:127769005-127769006 - TCGA-EE-A3AA-06 COSM3566212 c.3266G>T p.R1089L Substitution - Missense 2:127713625-127713625 - TCGA-D1-A161-01 COSM1006318 c.2281G>A p.G761R Substitution - Missense 2:127719744-127719744 - H650 COSM1194729 c.28C>T p.R10C Substitution - Missense 2:127770954-127770954 - S02249 COSM5680091 c.1105G>T p.G369W Substitution - Missense 2:127724424-127724424 - PD22036a COSM5774098 c.3796G>C p.G1266R Substitution - Missense 2:127706538-127706538 - HN_62854 COSM127212 c.1292-1G>A p.? Unknown 2:127723045-127723045 - TCGA-AC-A23H-01 COSM3836773 c.3142G>A p.G1048R Substitution - Missense 2:127713749-127713749 - 092T COSM1731377 c.985G>T p.G329C Substitution - Missense 2:127725082-127725082 - 448 COSM4435250 c.799C>G p.Q267E Substitution - Missense 2:127726703-127726703 - LC_C13 COSM1185999 c.3296G>T p.R1099L Substitution - Missense 2:127713595-127713595 - 403 COSM4429917 c.2346A>T p.R782S Substitution - Missense 2:127719679-127719679 - LOVO COSM1006314 c.3529C>T p.R1177W Substitution - Missense 2:127709526-127709526 - TCGA-61-1900-01 COSM1325938 c.355A>T p.K119* Substitution - Nonsense 2:127768212-127768212 - TCGA-13-1408-01 COSM112029 c.3928_3929insAGAAGTG p.G1310fs*5 Insertion - Frameshift 2:127706405-127706406 - CSCC-17-T COSM3566214 c.2832C>T p.P944P Substitution - coding silent 2:127717192-127717192 - TCGA-21-1077-01 COSM715893 c.3664G>A p.G1222S Substitution - Missense 2:127708794-127708794 - sysucc-880T COSM5463011 c.1305T>C p.P435P Substitution - coding silent 2:127723031-127723031 - T3503 COSM4740936 c.3255A>G p.E1085E Substitution - coding silent 2:127713636-127713636 - TCGA-Q1-A73O-01 COSM4834350 c.1178G>A p.G393D Substitution - Missense 2:127724351-127724351 - TCGA-AP-A0LM-01 COSM1006327 c.1062T>C p.G354G Substitution - coding silent 2:127724910-127724910 - TCGA-CM-6162-01 COSM1399285 c.3698G>A p.R1233H Substitution - Missense 2:127708760-127708760 - TCGA-D7-5579-01 COSM4084738 c.2627G>A p.G876D Substitution - Missense 2:127719398-127719398 - TCGA-CM-6171-01 COSM1399289 c.2624G>T p.G875V Substitution - Missense 2:127719401-127719401 - TCGA-AP-A059-01 COSM1006319 c.2221C>T p.Q741* Substitution - Nonsense 2:127719804-127719804 - TCGA-CG-4306-01 COSM4084737 c.2647C>T p.P883S Substitution - Missense 2:127719378-127719378 - 587376 COSM1232574 c.647A>C p.K216T Substitution - Missense 2:127763139-127763139 - T2944 COSM1006315 c.3342C>T p.G1114G Substitution - coding silent 2:127709823-127709823 - TCGA-06-5412-01 COSM3406847 c.756G>A p.W252* Substitution - Nonsense 2:127726746-127726746 - TCGA-BR-8680-01 COSM4084730 c.3785G>A p.R1262Q Substitution - Missense 2:127706549-127706549 - TCGA-AG-A002-01 COSM289815 c.3289C>T p.R1097* Substitution - Nonsense 2:127713602-127713602 - 8047865 COSM3772421 c.3524G>C p.G1175A Substitution - Missense 2:127709531-127709531 - MT-260-T2 COSM5651423 c.2882G>T p.G961V Substitution - Missense 2:127714009-127714009 - TCGA-AA-A00N-01 COSM278121 c.1579G>T p.E527* Substitution - Nonsense 2:127721928-127721928 - CHOL12 COSM1744739 c.1085G>T p.G362V Substitution - Missense 2:127724887-127724887 - TCGA-DJ-A2Q0-01 COSM3372411 c.1760C>G p.P587R Substitution - Missense 2:127720265-127720265 - LS411 COSM1006314 c.3529C>T p.R1177W Substitution - Missense 2:127709526-127709526 - PT23_2 COSM5903447 c.1049G>A p.G350E Substitution - Missense 2:127724923-127724923 - 587224 COSM1232572 c.2500C>T p.R834* Substitution - Nonsense 2:127719525-127719525 - TCGA-HU-A4G8-01 COSM4084743 c.1585A>G p.I529V Substitution - Missense 2:127721922-127721922 - RK278_C01 COSM4943307 c.2234G>C p.G745A Substitution - Missense 2:127719791-127719791 - S00833 COSM316525 c.3031G>T p.D1011Y Substitution - Missense 2:127713860-127713860 - TCGA-FW-A3R5-06 COSM3894697 c.3914G>A p.R1305Q Substitution - Missense 2:127706420-127706420 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.554831 2q14.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 3-UTRSNV . c.4008+491T>G 2 128463409 HC A C Missense p.I515S c.1544T>G 2 128479537 UCEC A C Synonymous p.G992G c.2976T>G 2 128471489 PRAD A - Frameshift p.Y496*fs*1 c.1488delT 2 128480195 RCCC A G Missense p.I156T c.467T>C 2 128522755 ESCA - AT Frameshift p.I389Nfs*30 c.1165_1166insAT 2 128481937 RCCC A T Missense p.L779M c.2335T>A 2 128477264 ESCA - CACTTCT Frameshift p.G1310Rfs*5 c.3927_3928insAGAAGTG 2 128463980 OV C A IntronicSNV . c.626+341G>T 2 128522061 UCEC C A Missense p.C312F c.935G>T 2 128482706 LUAD C A Missense p.D1011Y c.3031G>T 2 128471434 SCLC C A Missense p.D180Y c.538G>T 2 128522490 LUSC C A Missense p.G1051W c.3151G>T 2 128471314 LUSC C A Missense p.M777I c.2331G>T 2 128477268 BLCA C A Missense p.Q837H c.2511G>T 2 128477088 PRAD C A Missense p.R1089L c.3266G>T 2 128471199 CM C A Nonsense p.E1092* c.3274G>T 2 128471191 LUSC C A Nonsense p.G1158* c.3472G>T 2 128467267 CM C A Synonymous p.G838G c.2514G>T 2 128477085 LUAD C A Synonymous p.L381L c.1143G>T 2 128481960 LUAD C A Synonymous p.P1053P c.3159G>T 2 128471306 LUSC CC TT Missense p.G766E c.2297_2298delinsAA 2 128477301 CM C - Frameshift p.G1287Dfs*33 c.3860delG 2 128464048 BRCA C G Missense p.E1243Q c.3727G>C 2 128466305 ALL C G Missense p.E533D c.1599G>C 2 128479482 CM C G Missense p.G654R c.1960G>C 2 128477639 LUAD C G Missense p.Q1269H c.3807G>C 2 128464101 BLCA C G Missense p.Q158H c.474G>C 2 128522748 LGG C T 3-UTRSNV . c.4008+60G>A 2 128463840 CM CTCC - Frameshift p.G1316Vfs*3 c.3947_3950delGGAG 2 128463958 LGG C T IntronicSNV . c.1378+10G>A 2 128480522 NSCLC C T IntronicSNV . c.626+236G>A 2 128522166 BRCA C T IntronicSNV . c.626+97G>A 2 128522305 CM C T Missense p.E1078K c.3232G>A 2 128471233 HNSC C T Missense p.E1113K c.3337G>A 2 128467402 BLCA C T Missense p.E1248K c.3742G>A 2 128466290 ALL C T Missense p.E375K c.1123G>A 2 128481980 CM C T Missense p.G1158E c.3473G>A 2 128467156 CM C T Missense p.G1222S c.3664G>A 2 128466368 LUSC C T Missense p.G1251R c.3751G>A 2 128466281 ALL C T Missense p.G1335S c.4003G>A 2 128463905 CM C T Missense p.G182R c.544G>A 2 128522484 STAD C T Missense p.G427R c.1279G>A 2 128480839 HNSC C T Missense p.G761R c.2281G>A 2 128477318 UCEC C T Missense p.G876D c.2627G>A 2 128476972 STAD C T Missense p.M810I c.2430G>A 2 128477169 HNSC C T Missense p.R1028Q c.3083G>A 2 128471382 BRCA C T Missense p.R1121K c.3362G>A 2 128467377 CM C T Missense p.R1308Q c.3923G>A 2 128463985 BRCA C T Missense p.R241Q c.722G>A 2 128520638 CM C T Missense p.R404Q c.1211G>A 2 128480907 CM C T Missense p.R791Q c.2372G>A 2 128477227 STAD C T Missense p.R834Q c.2501G>A 2 128477098 STAD C T Nonsense p.W252* c.756G>A 2 128484320 GBM C T SpliceAcceptorSNV . c.1292-1G>A 2 128480619 HNSC C T Synonymous p.R973R c.2919G>A 2 128471546 LUAD C T Synonymous p.T907T c.2721G>A 2 128476878 STAD G A 3-UTRSNV . c.4008+130C>T 2 128463770 CM G A IntronicSNV . c.627-72C>T 2 128520805 CM G A IntronicSNV . c.724+7944C>T 2 128512692 PIA G A Missense p.P1005S c.3013C>T 2 128471452 CM G A Missense p.P1053S c.3157C>T 2 128471308 CM G A Missense p.P1055L c.3164C>T 2 128471301 CM G A Missense p.P1055S c.3163C>T 2 128471302 CM G A Missense p.P1118S c.3352C>T 2 128467387 CM G A Missense p.P723L c.2168C>T 2 128477431 LGG G A Missense p.P849S c.2545C>T 2 128477054 CM G A Missense p.P84S c.250C>T 2 128526530 BRCA G A Missense p.P883S c.2647C>T 2 128476952 STAD G A Missense p.P917L c.2750C>T 2 128476849 CM G A Missense p.P95S c.283C>T 2 128525858 CM G A Missense p.R1196C c.3586C>T 2 128466446 CM G A Nonsense p.Q714* c.2140C>T 2 128477459 UCEC G A Nonsense p.Q794* c.2380C>T 2 128477219 CM G A Nonsense p.R1144* c.3430C>T 2 128467309 COREAD G A Nonsense p.R1326* c.3976C>T 2 128463932 STAD G A Synonymous p.G718G c.2154C>T 2 128477445 CM G A Synonymous p.G876G c.2628C>T 2 128476971 LUAD G A Synonymous p.H1244H c.3732C>T 2 128466300 STAD G A Synonymous p.I758I c.2274C>T 2 128477325 CM G A Synonymous p.L240L c.720C>T 2 128520640 CM G A Synonymous p.P662P c.1986C>T 2 128477613 BRCA G A Synonymous p.P944P c.2832C>T 2 128474766 CM G C Missense p.L311V c.931C>G 2 128482710 BLCA G C Missense p.P587R c.1760C>G 2 128477839 THCA G C Missense p.Q644E c.1930C>G 2 128477669 BRCA G C Missense p.S1210C c.3629C>G 2 128466403 THCA G C Missense p.S868C c.2603C>G 2 128476996 BRCA G C Synonymous p.L390L c.1170C>G 2 128481933 UCEC G - Frameshift p.Q659Rfs*59 c.1975delC 2 128477624 STAD G - Frameshift p.R1089Gfs*192 c.3265delC 2 128471200 BLCA GG AA Missense p.P686F c.2056_2057delinsTT 2 128477542 CM G T Missense p.P1298T c.3892C>A 2 128464016 CM G T Missense p.Q650K c.1948C>A 2 128477651 LUSC G T Synonymous p.P1091P c.3273C>A 2 128471192 LUAD T A Synonymous p.G633G c.1899A>T 2 128477700 RCCC T C Missense p.R997G c.2989A>G 2 128471476 GBM T G Synonymous p.R241R c.723A>C 2 128520637 BRCA