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 11 46419411 46419411 + Silent SNP G G A TCGA-OR-A5J6-01A-31D-A29I-10 TCGA-OR-A5J6-10A-01D-A29L-10 g.chr11:46419411G>A c.3486C>T c.(3484-3486)gcC>gcT p.A1162A BLCA 11 46419000 46419000 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr11:46419000C>T c.3897G>A c.(3895-3897)taG>taA p.*1299* BLCA 11 46419037 46419037 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chr11:46419037T>C c.3860A>G c.(3859-3861)gAc>gGc p.D1287G BLCA 11 46419135 46419135 + Silent SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr11:46419135G>C c.3762C>G c.(3760-3762)gtC>gtG p.V1254V BLCA 11 46456527 46456527 + Missense_Mutation SNP G G A TCGA-ZF-A9RG-01A-21D-A42E-08 TCGA-ZF-A9RG-10A-01D-A42H-08 g.chr11:46456527G>A c.2693C>T c.(2692-2694)tCt>tTt p.S898F BLCA 11 46529801 46529801 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr11:46529801G>C c.2279C>G c.(2278-2280)tCt>tGt p.S760C BLCA 11 46563514 46563514 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 g.chr11:46563514C>G c.2053G>C c.(2053-2055)Gag>Cag p.E685Q BLCA 11 46563643 46563643 + Missense_Mutation SNP C C T TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr11:46563643C>T c.1924G>A c.(1924-1926)Gag>Aag p.E642K BLCA 11 46563668 46563677 + Frame_Shift_Del DEL CTCCAGCCTG CTCCAGCCTG - TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr11:46563668_46563677delCTCCAGCCTG c.1890_1899delCAGGCTGGAG c.(1888-1899)agcaggctggagfs p.SRLE630fs BLCA 11 46563761 46563761 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr11:46563761G>A c.1806C>T c.(1804-1806)gtC>gtT p.V602V BLCA 11 46563836 46563836 + Silent SNP G G A TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr11:46563836G>A c.1731C>T c.(1729-1731)ttC>ttT p.F577F BLCA 11 46563946 46563946 + Missense_Mutation SNP C C T TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr11:46563946C>T c.1621G>A c.(1621-1623)Gag>Aag p.E541K BLCA 11 46563952 46563952 + Missense_Mutation SNP C C T TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr11:46563952C>T c.1615G>A c.(1615-1617)Gaa>Aaa p.E539K BLCA 11 46564002 46564002 + Missense_Mutation SNP C C A TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr11:46564002C>A c.1565G>T c.(1564-1566)gGg>gTg p.G522V BLCA 11 46567156 46567156 + Silent SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 g.chr11:46567156G>C c.549C>G c.(547-549)gtC>gtG p.V183V BLCA 11 46567257 46567257 + Nonsense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 g.chr11:46567257G>A c.448C>T c.(448-450)Cag>Tag p.Q150* BLCA 11 46568822 46568822 + Silent SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr11:46568822C>T c.219G>A c.(217-219)gtG>gtA p.V73V BLCA 11 46568832 46568832 + Missense_Mutation SNP G G C TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr11:46568832G>C c.209C>G c.(208-210)tCc>tGc p.S70C BLCA 11 46569365 46569365 + Splice_Site SNP A A T TCGA-K4-AAQO-01A-11D-A38G-08 TCGA-K4-AAQO-10A-01D-A38J-08 g.chr11:46569365A>T c.e3+1 BRCA 11 46419038 46419038 + Frame_Shift_Del DEL C C - TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr11:46419038delC c.3859delG c.(3859-3861)gacfs p.D1287fs BRCA 11 46419045 46419045 + Silent SNP G G A TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 g.chr11:46419045G>A c.3852C>T c.(3850-3852)agC>agT p.S1284S BRCA 11 46419132 46419132 + Frame_Shift_Del DEL G G - TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 g.chr11:46419132delG c.3765delC c.(3763-3765)cccfs p.P1255fs BRCA 11 46419206 46419206 + Missense_Mutation SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 g.chr11:46419206C>G c.3691G>C c.(3691-3693)Gct>Cct p.A1231P BRCA 11 46419289 46419289 + Missense_Mutation SNP G G T TCGA-AR-A1AH-01A-11D-A12B-09 TCGA-AR-A1AH-10A-01D-A12B-09 g.chr11:46419289G>T c.3608C>A c.(3607-3609)aCc>aAc p.T1203N BRCA 11 46430198 46430198 + Missense_Mutation SNP G G A TCGA-AN-A0FW-01A-11W-A050-09 TCGA-AN-A0FW-10A-01W-A055-09 g.chr11:46430198G>A c.3268C>T c.(3268-3270)Ctt>Ttt p.L1090F BRCA 11 46455180 46455180 + Splice_Site SNP T T C TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr11:46455180T>C c.e14-2 BRCA 11 46563794 46563794 + Nonsense_Mutation SNP G G T TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr11:46563794G>T c.1773C>A c.(1771-1773)taC>taA p.Y591* BRCA 11 46563919 46563919 + Missense_Mutation SNP T T G TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 g.chr11:46563919T>G c.1648A>C c.(1648-1650)Acc>Ccc p.T550P BRCA 11 46564000 46564000 + Nonsense_Mutation SNP C C A TCGA-AR-A255-01A-11D-A167-09 TCGA-AR-A255-10A-01D-A167-09 g.chr11:46564000C>A c.1567G>T c.(1567-1569)Gaa>Taa p.E523* BRCA 11 46564007 46564007 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr11:46564007C>G c.1560G>C c.(1558-1560)ctG>ctC p.L520L BRCA 11 46564007 46564007 + Silent SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 g.chr11:46564007C>T c.1560G>A c.(1558-1560)ctG>ctA p.L520L BRCA 11 46567261 46567261 + Silent SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 g.chr11:46567261C>T c.444G>A c.(442-444)acG>acA p.T148T BRCA 11 46567268 46567268 + Missense_Mutation SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr11:46567268T>G c.437A>C c.(436-438)cAc>cCc p.H146P BRCA 11 46568822 46568822 + Silent SNP C C T TCGA-D8-A1XM-01A-21D-A14K-09 TCGA-D8-A1XM-10A-01D-A14K-09 g.chr11:46568822C>T c.219G>A c.(217-219)gtG>gtA p.V73V CESC 11 46430214 46430214 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 g.chr11:46430214C>T c.3252G>A c.(3250-3252)ctG>ctA p.L1084L CESC 11 46529873 46529873 + Nonsense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 g.chr11:46529873G>C c.2207C>G c.(2206-2208)tCa>tGa p.S736* CESC 11 46564315 46564315 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 g.chr11:46564315C>G c.1252G>C c.(1252-1254)Gag>Cag p.E418Q CESC 11 46569828 46569828 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 g.chr11:46569828C>G c.103G>C c.(103-105)Gat>Cat p.D35H CESC 11 46569840 46569840 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 g.chr11:46569840C>T c.91G>A c.(91-93)Gag>Aag p.E31K CHOL 11 46529852 46529852 + Missense_Mutation SNP T T C TCGA-W5-AA2U-01A-11D-A417-09 TCGA-W5-AA2U-10A-01D-A41A-09 g.chr11:46529852T>C c.2228A>G c.(2227-2229)cAg>cGg p.Q743R CHOL 11 46564499 46564499 + Silent SNP C C T TCGA-4G-AAZT-01A-11D-A417-09 TCGA-4G-AAZT-10A-01D-A41A-09 g.chr11:46564499C>T c.1068G>A c.(1066-1068)tcG>tcA p.S356S COAD 11 46419177 46419177 + Frame_Shift_Del DEL C C - TCGA-AA-A01I-01A-02W-A00E-09 TCGA-AA-A01I-10A-01W-A00E-09 g.chr11:46419177delC c.3720delG c.(3718-3720)gggfs p.G1240fs COAD 11 46419277 46419277 + Missense_Mutation SNP T T C TCGA-CK-6748-01A-11D-1835-10 TCGA-CK-6748-10A-01D-1835-10 g.chr11:46419277T>C c.3620A>G c.(3619-3621)cAg>cGg p.Q1207R COAD 11 46419316 46419316 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr11:46419316G>A c.3581C>T c.(3580-3582)aCg>aTg p.T1194M COAD 11 46439591 46439591 + Silent SNP G G A TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr11:46439591G>A c.2988C>T c.(2986-2988)aaC>aaT p.N996N COAD 11 46455113 46455113 + Nonsense_Mutation SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr11:46455113G>A c.2887C>T c.(2887-2889)Cga>Tga p.R963* COAD 11 46515257 46515257 + Splice_Site SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr11:46515257G>A c.2422C>T c.(2422-2424)Cgt>Tgt p.R808C COAD 11 46529745 46529745 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr11:46529745A>C c.2335T>G c.(2335-2337)Ttt>Gtt p.F779V COAD 11 46529902 46529902 + Silent SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr11:46529902G>A c.2178C>T c.(2176-2178)taC>taT p.Y726Y COAD 11 46563889 46563889 + Missense_Mutation SNP G G T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr11:46563889G>T c.1678C>A c.(1678-1680)Ctg>Atg p.L560M COAD 11 46563975 46563975 + Missense_Mutation SNP T T A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr11:46563975T>A c.1592A>T c.(1591-1593)cAg>cTg p.Q531L COAD 11 46564499 46564499 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr11:46564499C>T c.1068G>A c.(1066-1068)tcG>tcA p.S356S COAD 11 46564818 46564818 + Missense_Mutation SNP C C T TCGA-D5-6922-01A-11D-1924-10 TCGA-D5-6922-10A-01D-1924-10 g.chr11:46564818C>T c.749G>A c.(748-750)cGc>cAc p.R250H COAD 11 46564819 46564819 + Missense_Mutation SNP G G T TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr11:46564819G>T c.748C>A c.(748-750)Cgc>Agc p.R250S COAD 11 46564819 46564819 + Missense_Mutation SNP G G T TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr11:46564819G>T c.748C>A c.(748-750)Cgc>Agc p.R250S COAD 11 46564819 46564819 + Missense_Mutation SNP G G T TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr11:46564819G>T c.748C>A c.(748-750)Cgc>Agc p.R250S COAD 11 46564939 46564939 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr11:46564939C>T c.628G>A c.(628-630)Gaa>Aaa p.E210K COAD 11 46565568 46565569 + Missense_Mutation DNP CC CC AA TCGA-DM-A28C-01A-11D-A16V-10 TCGA-DM-A28C-10A-01D-A16V-10 g.chr11:46565568_46565569CC>AA c.574_575GG>TT c.(574-576)GGa>TTa p.G192L COAD 11 46567213 46567213 + Silent SNP G G A TCGA-AA-3968-01A-01W-0995-10 TCGA-AA-3968-10A-01W-0995-10 g.chr11:46567213G>A c.492C>T c.(490-492)gaC>gaT p.D164D COAD 11 46568683 46568683 + Missense_Mutation SNP C C T TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr11:46568683C>T c.358G>A c.(358-360)Gtt>Att p.V120I COAD 11 46568802 46568802 + Missense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr11:46568802G>A c.239C>T c.(238-240)aCg>aTg p.T80M COAD 11 46568833 46568833 + Missense_Mutation SNP A A G TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr11:46568833A>G c.208T>C c.(208-210)Tcc>Ccc p.S70P COAD 11 46569917 46569917 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr11:46569917G>A c.14C>T c.(13-15)cCa>cTa p.P5L COADREAD 11 46419177 46419177 + Frame_Shift_Del DEL C C - TCGA-AA-A01I-01A-02W-A00E-09 TCGA-AA-A01I-10A-01W-A00E-09 g.chr11:46419177delC c.3720delG c.(3718-3720)gggfs p.G1240fs COADREAD 11 46419277 46419277 + Missense_Mutation SNP T T C TCGA-CK-6748-01A-11D-1835-10 TCGA-CK-6748-10A-01D-1835-10 g.chr11:46419277T>C c.3620A>G c.(3619-3621)cAg>cGg p.Q1207R COADREAD 11 46419316 46419316 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr11:46419316G>A c.3581C>T c.(3580-3582)aCg>aTg p.T1194M COADREAD 11 46439591 46439591 + Silent SNP G G A TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr11:46439591G>A c.2988C>T c.(2986-2988)aaC>aaT p.N996N COADREAD 11 46455113 46455113 + Nonsense_Mutation SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr11:46455113G>A c.2887C>T c.(2887-2889)Cga>Tga p.R963* COADREAD 11 46515257 46515257 + Splice_Site SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr11:46515257G>A c.2422C>T c.(2422-2424)Cgt>Tgt p.R808C COADREAD 11 46529745 46529745 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr11:46529745A>C c.2335T>G c.(2335-2337)Ttt>Gtt p.F779V COADREAD 11 46529902 46529902 + Silent SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr11:46529902G>A c.2178C>T c.(2176-2178)taC>taT p.Y726Y COADREAD 11 46563889 46563889 + Missense_Mutation SNP G G T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr11:46563889G>T c.1678C>A c.(1678-1680)Ctg>Atg p.L560M COADREAD 11 46563975 46563975 + Missense_Mutation SNP T T A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr11:46563975T>A c.1592A>T c.(1591-1593)cAg>cTg p.Q531L COADREAD 11 46564499 46564499 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr11:46564499C>T c.1068G>A c.(1066-1068)tcG>tcA p.S356S COADREAD 11 46564818 46564818 + Missense_Mutation SNP C C T TCGA-D5-6922-01A-11D-1924-10 TCGA-D5-6922-10A-01D-1924-10 g.chr11:46564818C>T c.749G>A c.(748-750)cGc>cAc p.R250H COADREAD 11 46564819 46564819 + Missense_Mutation SNP G G T TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr11:46564819G>T c.748C>A c.(748-750)Cgc>Agc p.R250S COADREAD 11 46564819 46564819 + Missense_Mutation SNP G G T TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr11:46564819G>T c.748C>A c.(748-750)Cgc>Agc p.R250S COADREAD 11 46564819 46564819 + Missense_Mutation SNP G G T TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr11:46564819G>T c.748C>A c.(748-750)Cgc>Agc p.R250S COADREAD 11 46564857 46564857 + Missense_Mutation SNP G G A TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr11:46564857G>A c.710C>T c.(709-711)aCg>aTg p.T237M COADREAD 11 46564939 46564939 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr11:46564939C>T c.628G>A c.(628-630)Gaa>Aaa p.E210K COADREAD 11 46565568 46565569 + Missense_Mutation DNP CC CC AA TCGA-DM-A28C-01A-11D-A16V-10 TCGA-DM-A28C-10A-01D-A16V-10 g.chr11:46565568_46565569CC>AA c.574_575GG>TT c.(574-576)GGa>TTa p.G192L COADREAD 11 46567213 46567213 + Silent SNP G G A TCGA-AA-3968-01A-01W-0995-10 TCGA-AA-3968-10A-01W-0995-10 g.chr11:46567213G>A c.492C>T c.(490-492)gaC>gaT p.D164D COADREAD 11 46568683 46568683 + Missense_Mutation SNP C C T TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr11:46568683C>T c.358G>A c.(358-360)Gtt>Att p.V120I COADREAD 11 46568802 46568802 + Missense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr11:46568802G>A c.239C>T c.(238-240)aCg>aTg p.T80M COADREAD 11 46568833 46568833 + Missense_Mutation SNP A A G TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr11:46568833A>G c.208T>C c.(208-210)Tcc>Ccc p.S70P COADREAD 11 46569917 46569917 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr11:46569917G>A c.14C>T c.(13-15)cCa>cTa p.P5L DLBC 11 46419037 46419037 + Missense_Mutation SNP T T C TCGA-FA-A86F-01A-11D-A382-10 TCGA-FA-A86F-10A-01D-A385-10 g.chr11:46419037T>C c.3860A>G c.(3859-3861)gAc>gGc p.D1287G DLBC 11 46431914 46431914 + Missense_Mutation SNP A A C TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr11:46431914A>C c.3121T>G c.(3121-3123)Tta>Gta p.L1041V DLBC 11 46456444 46456444 + Silent SNP G G A TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr11:46456444G>A c.2776C>T c.(2776-2778)Ctg>Ttg p.L926L DLBC 11 46564251 46564251 + Missense_Mutation SNP C C T TCGA-FF-8041-01A-11D-2210-10 TCGA-FF-8041-10A-01D-2210-10 g.chr11:46564251C>T c.1316G>A c.(1315-1317)aGa>aAa p.R439K ESCA 11 46419421 46419421 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 g.chr11:46419421C>T c.3476G>A c.(3475-3477)gGc>gAc p.G1159D ESCA 11 46430144 46430144 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 g.chr11:46430144C>A c.3322G>T c.(3322-3324)Gcc>Tcc p.A1108S ESCA 11 46515709 46515709 + Silent SNP C C A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 g.chr11:46515709C>A c.2385G>T c.(2383-2385)cgG>cgT p.R795R ESCA 11 46515719 46515719 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 g.chr11:46515719C>T c.2375G>A c.(2374-2376)cGc>cAc p.R792H ESCA 11 46563567 46563567 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 g.chr11:46563567G>T c.2000C>A c.(1999-2001)tCt>tAt p.S667Y ESCA 11 46563773 46563773 + Silent SNP G G C TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 g.chr11:46563773G>C c.1794C>G c.(1792-1794)tcC>tcG p.S598S ESCA 11 46563784 46563784 + Missense_Mutation SNP C C T TCGA-LN-A49U-01A-31D-A27G-09 TCGA-LN-A49U-10A-01D-A27G-09 g.chr11:46563784C>T c.1783G>A c.(1783-1785)Gag>Aag p.E595K ESCA 11 46563800 46563800 + Silent SNP A A G TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 g.chr11:46563800A>G c.1767T>C c.(1765-1767)ccT>ccC p.P589P ESCA 11 46563842 46563842 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr11:46563842C>T c.1725G>A c.(1723-1725)ctG>ctA p.L575L ESCA 11 46564329 46564329 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr11:46564329C>A c.1238G>T c.(1237-1239)gGg>gTg p.G413V ESCA 11 46568813 46568813 + Frame_Shift_Del DEL A A - TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 g.chr11:46568813delA c.228delT c.(226-228)aatfs p.N76fs GBM 11 46439460 46439461 + Intron INS - - A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 g.chr11:46439460_46439461insA GBM 11 46568697 46568697 + Missense_Mutation SNP C C A TCGA-06-2570-01A-01D-1495-08 TCGA-06-2570-10A-01D-1495-08 g.chr11:46568697C>A c.344G>T c.(343-345)tGc>tTc p.C115F GBMLGG 11 46419176 46419176 + Missense_Mutation SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 g.chr11:46419176G>A c.3721C>T c.(3721-3723)Cgg>Tgg p.R1241W GBMLGG 11 46431879 46431879 + Silent SNP C C G TCGA-HT-A614-01A-11D-A29Q-08 TCGA-HT-A614-10A-01D-A29Q-08 g.chr11:46431879C>G c.3156G>C c.(3154-3156)ctG>ctC p.L1052L GBMLGG 11 46439460 46439461 + Intron INS - - A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 g.chr11:46439460_46439461insA GBMLGG 11 46456428 46456429 + Frame_Shift_Ins INS - - GGTTATGGGG TCGA-IK-7675-01A-11D-2086-08 TCGA-IK-7675-10A-01D-2086-08 g.chr11:46456428_46456429insGGTTATGGGG c.2791_2792insCCCCATAACC c.(2791-2793)ctgfs p.L931fs GBMLGG 11 46563768 46563768 + Nonsense_Mutation SNP C C T TCGA-DU-A5TR-01A-11D-A289-08 TCGA-DU-A5TR-10A-01D-A289-08 g.chr11:46563768C>T c.1799G>A c.(1798-1800)tGg>tAg p.W600* GBMLGG 11 46563858 46563858 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:46563858G>T c.1709C>A c.(1708-1710)gCt>gAt p.A570D GBMLGG 11 46564140 46564140 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:46564140C>T c.1427G>A c.(1426-1428)gGg>gAg p.G476E GBMLGG 11 46568697 46568697 + Missense_Mutation SNP C C A TCGA-06-2570-01A-01D-1495-08 TCGA-06-2570-10A-01D-1495-08 g.chr11:46568697C>A c.344G>T c.(343-345)tGc>tTc p.C115F HNSC 11 46419246 46419246 + Missense_Mutation SNP C C A TCGA-BB-4224-01A-01D-1434-08 TCGA-BB-4224-10A-01D-1434-08 g.chr11:46419246C>A c.3651G>T c.(3649-3651)gaG>gaT p.E1217D HNSC 11 46439569 46439569 + Missense_Mutation SNP C C A TCGA-CN-6988-01A-11D-1912-08 TCGA-CN-6988-10A-01D-1912-08 g.chr11:46439569C>A c.3010G>T c.(3010-3012)Gac>Tac p.D1004Y HNSC 11 46515686 46515686 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 g.chr11:46515686C>T c.2408G>A c.(2407-2409)cGc>cAc p.R803H HNSC 11 46564069 46564069 + Nonsense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr11:46564069G>A c.1498C>T c.(1498-1500)Cag>Tag p.Q500* HNSC 11 46564092 46564092 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr11:46564092G>C c.1475C>G c.(1474-1476)tCg>tGg p.S492W HNSC 11 46564148 46564148 + Silent SNP C C T TCGA-QK-A6V9-01A-11D-A34J-08 TCGA-QK-A6V9-10B-01D-A34M-08 g.chr11:46564148C>T c.1419G>A c.(1417-1419)ccG>ccA p.P473P HNSC 11 46564192 46564192 + Nonsense_Mutation SNP G G A TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr11:46564192G>A c.1375C>T c.(1375-1377)Cag>Tag p.Q459* HNSC 11 46564345 46564345 + Nonsense_Mutation SNP G G A TCGA-QK-AA3J-01A-11D-A391-08 TCGA-QK-AA3J-10A-01D-A394-08 g.chr11:46564345G>A c.1222C>T c.(1222-1224)Cga>Tga p.R408* HNSC 11 46564921 46564921 + Missense_Mutation SNP C C T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 g.chr11:46564921C>T c.646G>A c.(646-648)Gat>Aat p.D216N HNSC 11 46565585 46565585 + Silent SNP C C T TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr11:46565585C>T c.558G>A c.(556-558)gtG>gtA p.V186V HNSC 11 46567252 46567252 + Silent SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chr11:46567252G>C c.453C>G c.(451-453)ctC>ctG p.L151L HNSC 11 46568686 46568686 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr11:46568686C>T c.355G>A c.(355-357)Gag>Aag p.E119K KICH 11 46515749 46515749 + Missense_Mutation SNP T T C TCGA-KL-8328-01A-11D-2310-10 TCGA-KL-8328-11A-01D-2310-10 g.chr11:46515749T>C c.2345A>G c.(2344-2346)aAt>aGt p.N782S KIPAN 11 46439573 46439574 + Frame_Shift_Del DEL AG AG - TCGA-CW-6093-01A-11D-1669-08 TCGA-CW-6093-11A-01D-1669-08 g.chr11:46439573_46439574delAG c.3005_3006delCT c.(3004-3006)cctfs p.P1002fs KIPAN 11 46515749 46515749 + Missense_Mutation SNP T T C TCGA-KL-8328-01A-11D-2310-10 TCGA-KL-8328-11A-01D-2310-10 g.chr11:46515749T>C c.2345A>G c.(2344-2346)aAt>aGt p.N782S KIPAN 11 46563577 46563577 + Missense_Mutation SNP A A G TCGA-CJ-4903-01A-01D-1429-08 TCGA-CJ-4903-11A-01D-1429-08 g.chr11:46563577A>G c.1990T>C c.(1990-1992)Tcc>Ccc p.S664P KIPAN 11 46563838 46563838 + Missense_Mutation SNP A A G TCGA-PJ-A8JU-01A-11D-A35Z-10 TCGA-PJ-A8JU-10A-01D-A35Z-10 g.chr11:46563838A>G c.1729T>C c.(1729-1731)Ttc>Ctc p.F577L KIPAN 11 46567203 46567203 + Missense_Mutation SNP G G A TCGA-B0-5711-01A-11D-1669-08 TCGA-B0-5711-11A-01D-1669-08 g.chr11:46567203G>A c.502C>T c.(502-504)Cgg>Tgg p.R168W KIPAN 11 46569397 46569397 + Missense_Mutation SNP G G T TCGA-PJ-A8JU-01A-11D-A35Z-10 TCGA-PJ-A8JU-10A-01D-A35Z-10 g.chr11:46569397G>T c.164C>A c.(163-165)tCt>tAt p.S55Y KIRC 11 46439573 46439574 + Frame_Shift_Del DEL AG AG - TCGA-CW-6093-01A-11D-1669-08 TCGA-CW-6093-11A-01D-1669-08 g.chr11:46439573_46439574delAG c.3005_3006delCT c.(3004-3006)cctfs p.P1002fs KIRC 11 46563577 46563577 + Missense_Mutation SNP A A G TCGA-CJ-4903-01A-01D-1429-08 TCGA-CJ-4903-11A-01D-1429-08 g.chr11:46563577A>G c.1990T>C c.(1990-1992)Tcc>Ccc p.S664P KIRC 11 46567203 46567203 + Missense_Mutation SNP G G A TCGA-B0-5711-01A-11D-1669-08 TCGA-B0-5711-11A-01D-1669-08 g.chr11:46567203G>A c.502C>T c.(502-504)Cgg>Tgg p.R168W KIRP 11 46563838 46563838 + Missense_Mutation SNP A A G TCGA-PJ-A8JU-01A-11D-A35Z-10 TCGA-PJ-A8JU-10A-01D-A35Z-10 g.chr11:46563838A>G c.1729T>C c.(1729-1731)Ttc>Ctc p.F577L KIRP 11 46569397 46569397 + Missense_Mutation SNP G G T TCGA-PJ-A8JU-01A-11D-A35Z-10 TCGA-PJ-A8JU-10A-01D-A35Z-10 g.chr11:46569397G>T c.164C>A c.(163-165)tCt>tAt p.S55Y LGG 11 46419176 46419176 + Missense_Mutation SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 g.chr11:46419176G>A c.3721C>T c.(3721-3723)Cgg>Tgg p.R1241W LGG 11 46431879 46431879 + Silent SNP C C G TCGA-HT-A614-01A-11D-A29Q-08 TCGA-HT-A614-10A-01D-A29Q-08 g.chr11:46431879C>G c.3156G>C c.(3154-3156)ctG>ctC p.L1052L LGG 11 46456428 46456429 + Frame_Shift_Ins INS - - GGTTATGGGG TCGA-IK-7675-01A-11D-2086-08 TCGA-IK-7675-10A-01D-2086-08 g.chr11:46456428_46456429insGGTTATGGGG c.2791_2792insCCCCATAACC c.(2791-2793)ctgfs p.L931fs LGG 11 46563768 46563768 + Nonsense_Mutation SNP C C T TCGA-DU-A5TR-01A-11D-A289-08 TCGA-DU-A5TR-10A-01D-A289-08 g.chr11:46563768C>T c.1799G>A c.(1798-1800)tGg>tAg p.W600* LGG 11 46563858 46563858 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:46563858G>T c.1709C>A c.(1708-1710)gCt>gAt p.A570D LGG 11 46564140 46564140 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:46564140C>T c.1427G>A c.(1426-1428)gGg>gAg p.G476E LIHC 11 46431903 46431903 + Silent SNP A A G TCGA-FV-A2QR-01A-11D-A20W-10 TCGA-FV-A2QR-11A-11D-A20W-10 g.chr11:46431903A>G c.3132T>C c.(3130-3132)ggT>ggC p.G1044G LIHC 11 46456546 46456546 + Missense_Mutation SNP C C T TCGA-DD-AAVU-01A-11D-A40R-10 TCGA-DD-AAVU-10A-01D-A40U-10 g.chr11:46456546C>T c.2674G>A c.(2674-2676)Gat>Aat p.D892N LIHC 11 46456582 46456582 + Missense_Mutation SNP C C T TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr11:46456582C>T c.2638G>A c.(2638-2640)Gtg>Atg p.V880M LIHC 11 46456589 46456589 + Splice_Site SNP T T C TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr11:46456589T>C c.e13-2 LIHC 11 46567302 46567302 + Missense_Mutation SNP C C A TCGA-G3-AAV0-01A-11D-A36X-10 TCGA-G3-AAV0-10A-01D-A370-10 g.chr11:46567302C>A c.403G>T c.(403-405)Gat>Tat p.D135Y LIHC 11 46569854 46569854 + Missense_Mutation SNP T T C TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr11:46569854T>C c.77A>G c.(76-78)cAg>cGg p.Q26R LUAD 11 46419198 46419198 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 g.chr11:46419198C>A c.3699G>T c.(3697-3699)tgG>tgT p.W1233C LUAD 11 46430094 46430094 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 g.chr11:46430094C>A c.3372G>T c.(3370-3372)gaG>gaT p.E1124D LUAD 11 46455071 46455071 + Nonsense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 g.chr11:46455071G>A c.2929C>T c.(2929-2931)Cag>Tag p.Q977* LUAD 11 46455144 46455144 + Missense_Mutation SNP C C A TCGA-L9-A444-01A-21D-A24D-08 TCGA-L9-A444-10A-01D-A24F-08 g.chr11:46455144C>A c.2856G>T c.(2854-2856)atG>atT p.M952I LUAD 11 46455146 46455146 + Missense_Mutation SNP T T A TCGA-L9-A444-01A-21D-A24D-08 TCGA-L9-A444-10A-01D-A24F-08 g.chr11:46455146T>A c.2854A>T c.(2854-2856)Atg>Ttg p.M952L LUAD 11 46515726 46515726 + Missense_Mutation SNP C C G TCGA-91-8496-01A-11D-2393-08 TCGA-91-8496-10A-01D-2393-08 g.chr11:46515726C>G c.2368G>C c.(2368-2370)Gct>Cct p.A790P LUAD 11 46563495 46563496 + Splice_Site DEL CT CT - TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 g.chr11:46563495_46563496delCT c.2071_2072delAG c.(2071-2073)agg>g p.R692fs LUAD 11 46563725 46563725 + Silent SNP G G A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr11:46563725G>A c.1842C>T c.(1840-1842)agC>agT p.S614S LUAD 11 46563784 46563784 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 g.chr11:46563784C>T c.1783G>A c.(1783-1785)Gag>Aag p.E595K LUAD 11 46564402 46564402 + Missense_Mutation SNP C C G TCGA-55-A494-01A-11D-A24P-08 TCGA-55-A494-10A-01D-A24P-08 g.chr11:46564402C>G c.1165G>C c.(1165-1167)Ggt>Cgt p.G389R LUAD 11 46568663 46568663 + Splice_Site SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 g.chr11:46568663G>A c.378C>T c.(376-378)caC>caT p.H126H LUSC 11 46419148 46419148 + Missense_Mutation SNP G G T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 g.chr11:46419148G>T c.3749C>A c.(3748-3750)tCt>tAt p.S1250Y LUSC 11 46431886 46431886 + Missense_Mutation SNP T T C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 g.chr11:46431886T>C c.3149A>G c.(3148-3150)gAc>gGc p.D1050G OV 11 46439541 46439541 + Missense_Mutation SNP G G C TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 g.chr11:46439541G>C c.3038C>G c.(3037-3039)tCt>tGt p.S1013C OV 11 46567322 46567322 + Missense_Mutation SNP C C A TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 g.chr11:46567322C>A c.383G>T c.(382-384)gGc>gTc p.G128V PAAD 11 46419133 46419133 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:46419133G>A c.3764C>T c.(3763-3765)cCc>cTc p.P1255L PAAD 11 46419227 46419227 + Nonsense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:46419227G>A c.3670C>T c.(3670-3672)Cga>Tga p.R1224* PAAD 11 46430125 46430125 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:46430125G>A c.3341C>T c.(3340-3342)gCc>gTc p.A1114V PAAD 11 46568662 46568662 + Splice_Site SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 g.chr11:46568662C>T c.e4+1 PRAD 11 46515257 46515257 + Splice_Site SNP G G A TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 g.chr11:46515257G>A c.2422C>T c.(2422-2424)Cgt>Tgt p.R808C PRAD 11 46564154 46564155 + Frame_Shift_Ins INS - - C TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 g.chr11:46564154_46564155insC c.1412_1413insG c.(1411-1413)ggtfs p.G471fs PRAD 11 46564389 46564389 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr11:46564389C>T c.1178G>A c.(1177-1179)cGc>cAc p.R393H PRAD 11 46569829 46569829 + Missense_Mutation SNP T T A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 g.chr11:46569829T>A c.102A>T c.(100-102)gaA>gaT p.E34D PRAD 11 46569885 46569885 + Nonsense_Mutation SNP G G A TCGA-XK-AAK1-01A-11D-A41K-08 TCGA-XK-AAK1-10A-01D-A41N-08 g.chr11:46569885G>A c.46C>T c.(46-48)Cga>Tga p.R16* READ 11 46564857 46564857 + Missense_Mutation SNP G G A TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr11:46564857G>A c.710C>T c.(709-711)aCg>aTg p.T237M SARC 11 46419176 46419176 + Missense_Mutation SNP G G A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 g.chr11:46419176G>A c.3721C>T c.(3721-3723)Cgg>Tgg p.R1241W SARC 11 46456427 46456427 + Silent SNP C C A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 g.chr11:46456427C>A c.2793G>T c.(2791-2793)ctG>ctT p.L931L SKCM 11 46419074 46419074 + Missense_Mutation SNP T T C TCGA-EE-A3AD-06A-11D-A196-08 TCGA-EE-A3AD-10A-01D-A198-08 g.chr11:46419074T>C c.3823A>G c.(3823-3825)Aac>Gac p.N1275D SKCM 11 46419286 46419286 + Missense_Mutation SNP G G A TCGA-EE-A29P-06A-11D-A197-08 TCGA-EE-A29P-10A-01D-A199-08 g.chr11:46419286G>A c.3611C>T c.(3610-3612)tCc>tTc p.S1204F SKCM 11 46419343 46419343 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr11:46419343C>T c.3554G>A c.(3553-3555)aGc>aAc p.S1185N SKCM 11 46419476 46419476 + Missense_Mutation SNP C C A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 g.chr11:46419476C>A c.3421G>T c.(3421-3423)Ggt>Tgt p.G1141C SKCM 11 46430162 46430162 + Nonsense_Mutation SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr11:46430162G>A c.3304C>T c.(3304-3306)Cag>Tag p.Q1102* SKCM 11 46465037 46465037 + Splice_Site SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 g.chr11:46465037C>T c.e12+1 SKCM 11 46465038 46465038 + Splice_Site SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 g.chr11:46465038C>T c.2632G>A c.(2632-2634)Gct>Act p.A878T SKCM 11 46534347 46534347 + Missense_Mutation SNP A A G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr11:46534347A>G c.2089T>C c.(2089-2091)Tcc>Ccc p.S697P SKCM 11 46563511 46563511 + Missense_Mutation SNP C C T TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr11:46563511C>T c.2056G>A c.(2056-2058)Gag>Aag p.E686K SKCM 11 46563784 46563784 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr11:46563784C>G c.1783G>C c.(1783-1785)Gag>Cag p.E595Q SKCM 11 46564027 46564027 + Nonsense_Mutation SNP G G A TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr11:46564027G>A c.1540C>T c.(1540-1542)Cag>Tag p.Q514* SKCM 11 46564131 46564131 + Missense_Mutation SNP G G A TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr11:46564131G>A c.1436C>T c.(1435-1437)aCt>aTt p.T479I SKCM 11 46564360 46564360 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 g.chr11:46564360G>A c.1207C>T c.(1207-1209)Cct>Tct p.P403S SKCM 11 46564444 46564444 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr11:46564444G>A c.1123C>T c.(1123-1125)Cag>Tag p.Q375* SKCM 11 46564472 46564472 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr11:46564472C>T c.1095G>A c.(1093-1095)ctG>ctA p.L365L SKCM 11 46564525 46564525 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr11:46564525G>A c.1042C>T c.(1042-1044)Ccc>Tcc p.P348S SKCM 11 46564804 46564804 + Nonsense_Mutation SNP G G A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr11:46564804G>A c.763C>T c.(763-765)Cag>Tag p.Q255* SKCM 11 46564805 46564805 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chr11:46564805G>A c.762C>T c.(760-762)atC>atT p.I254I SKCM 11 46564815 46564815 + Missense_Mutation SNP G G A TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr11:46564815G>A c.752C>T c.(751-753)tCt>tTt p.S251F SKCM 11 46565585 46565585 + Silent SNP C C T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 g.chr11:46565585C>T c.558G>A c.(556-558)gtG>gtA p.V186V SKCM 11 46567197 46567197 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr11:46567197G>A c.508C>T c.(508-510)Ccc>Tcc p.P170S SKCM 11 46567280 46567280 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr11:46567280G>A c.425C>T c.(424-426)tCc>tTc p.S142F SKCM 11 46568713 46568713 + Missense_Mutation SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr11:46568713G>A c.328C>T c.(328-330)Ctt>Ttt p.L110F SKCM 11 46568772 46568772 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr11:46568772G>A c.269C>T c.(268-270)tCc>tTc p.S90F

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 11 46456549 46456549 single base substitution T C exon_variant BLCA-CN 11 46456549 46456549 single base substitution T C missense_variant N772D 2314A>G BLCA-CN 11 46456549 46456549 single base substitution T C missense_variant N801D 2401A>G BLCA-CN 11 46456549 46456549 single base substitution T C missense_variant N831D 2491A>G BLCA-CN 11 46456549 46456549 single base substitution T C missense_variant N862D 2584A>G BLCA-CN 11 46456549 46456549 single base substitution T C missense_variant N891D 2671A>G BLCA-CN 11 46563550 46563550 single base substitution C T downstream_gene_variant BLCA-CN 11 46563550 46563550 single base substitution C T missense_variant E583K 1747G>A BLCA-CN 11 46563550 46563550 single base substitution C T missense_variant E673K 2017G>A BLCA-CN 11 46563862 46563862 single base substitution G A downstream_gene_variant BLCA-CN 11 46563862 46563862 single base substitution G A missense_variant R479C 1435C>T BLCA-CN 11 46563862 46563862 single base substitution G A missense_variant R569C 1705C>T BLCA-CN 11 46567297 46567297 single base substitution G C downstream_gene_variant BLCA-CN 11 46567297 46567297 single base substitution G C exon_variant BLCA-CN 11 46567297 46567297 single base substitution G C missense_variant S136R 408C>G BLCA-CN 11 46568694 46568694 single base substitution A G downstream_gene_variant BLCA-CN 11 46568694 46568694 single base substitution A G exon_variant BLCA-CN 11 46568694 46568694 single base substitution A G intron_variant BLCA-CN 11 46568694 46568694 single base substitution A G missense_variant L116P 347T>C BLCA-US 11 46419000 46419000 single base substitution C T stop_retained_variant *1180* 3540G>A BLCA-US 11 46419000 46419000 single base substitution C T stop_retained_variant *1209* 3627G>A BLCA-US 11 46419000 46419000 single base substitution C T stop_retained_variant *1239* 3717G>A BLCA-US 11 46419000 46419000 single base substitution C T stop_retained_variant *1270* 3810G>A BLCA-US 11 46419000 46419000 single base substitution C T stop_retained_variant *1299* 3897G>A BLCA-US 11 46419000 46419000 single base substitution C T stop_retained_variant *257* 771G>A BLCA-US 11 46419037 46419037 single base substitution T C missense_variant D1168G 3503A>G BLCA-US 11 46419037 46419037 single base substitution T C missense_variant D1197G 3590A>G BLCA-US 11 46419037 46419037 single base substitution T C missense_variant D1227G 3680A>G BLCA-US 11 46419037 46419037 single base substitution T C missense_variant D1258G 3773A>G BLCA-US 11 46419037 46419037 single base substitution T C missense_variant D1287G 3860A>G BLCA-US 11 46419037 46419037 single base substitution T C missense_variant D245G 734A>G BLCA-US 11 46529801 46529801 single base substitution G C exon_variant BLCA-US 11 46529801 46529801 single base substitution G C intron_variant BLCA-US 11 46529801 46529801 single base substitution G C missense_variant S641C 1922C>G BLCA-US 11 46529801 46529801 single base substitution G C missense_variant S670C 2009C>G BLCA-US 11 46529801 46529801 single base substitution G C missense_variant S731C 2192C>G BLCA-US 11 46529801 46529801 single base substitution G C missense_variant S760C 2279C>G BLCA-US 11 46563668 46563677 deletion of <=200bp CTCCAGCCTG - downstream_gene_variant BLCA-US 11 46563668 46563677 deletion of <=200bp CTCCAGCCTG - frameshift_variant SRLE540 BLCA-US 11 46563668 46563677 deletion of <=200bp CTCCAGCCTG - frameshift_variant SRLE630 BLCA-US 11 46563761 46563761 single base substitution G A downstream_gene_variant BLCA-US 11 46563761 46563761 single base substitution G A synonymous_variant V512V 1536C>T BLCA-US 11 46563761 46563761 single base substitution G A synonymous_variant V602V 1806C>T BLCA-US 11 46567156 46567156 single base substitution G C downstream_gene_variant BLCA-US 11 46567156 46567156 single base substitution G C splice_region_variant BLCA-US 11 46567257 46567257 single base substitution G A downstream_gene_variant BLCA-US 11 46567257 46567257 single base substitution G A exon_variant BLCA-US 11 46567257 46567257 single base substitution G A stop_gained Q150* 448C>T BOCA-FR 11 46461056 46461056 single base substitution C G intron_variant BOCA-FR 11 46574882 46574882 single base substitution A G intron_variant BRCA-EU 11 46414343 46414343 single base substitution C T downstream_gene_variant BRCA-EU 11 46416259 46416259 single base substitution A T downstream_gene_variant BRCA-EU 11 46416388 46416388 single base substitution C A downstream_gene_variant BRCA-EU 11 46420408 46420408 single base substitution C T intron_variant BRCA-EU 11 46421203 46421203 single base substitution C G intron_variant BRCA-EU 11 46421431 46421431 single base substitution G C intron_variant BRCA-EU 11 46422166 46422166 single base substitution G A intron_variant BRCA-EU 11 46422423 46422423 single base substitution G A intron_variant BRCA-EU 11 46423267 46423267 single base substitution C G intron_variant BRCA-EU 11 46423863 46423863 single base substitution G A intron_variant BRCA-EU 11 46424079 46424079 deletion of <=200bp T - intron_variant BRCA-EU 11 46426491 46426491 single base substitution C A intron_variant BRCA-EU 11 46427104 46427104 deletion of <=200bp A - intron_variant BRCA-EU 11 46428870 46428870 single base substitution C A intron_variant BRCA-EU 11 46430318 46430318 single base substitution C T intron_variant BRCA-EU 11 46430946 46430946 single base substitution C A intron_variant BRCA-EU 11 46431709 46431709 single base substitution C T intron_variant BRCA-EU 11 46432270 46432270 single base substitution G C intron_variant BRCA-EU 11 46432866 46432866 single base substitution G A intron_variant BRCA-EU 11 46433427 46433427 single base substitution C T intron_variant BRCA-EU 11 46433802 46433802 single base substitution C G intron_variant BRCA-EU 11 46434894 46434894 single base substitution C G intron_variant BRCA-EU 11 46435520 46435520 single base substitution C G intron_variant BRCA-EU 11 46437225 46437225 single base substitution G C intron_variant BRCA-EU 11 46437236 46437236 single base substitution A G intron_variant BRCA-EU 11 46437898 46437898 single base substitution C T intron_variant BRCA-EU 11 46442978 46442978 single base substitution C A intron_variant BRCA-EU 11 46442978 46442978 single base substitution C A upstream_gene_variant BRCA-EU 11 46443141 46443141 single base substitution T A intron_variant BRCA-EU 11 46443141 46443141 single base substitution T A upstream_gene_variant BRCA-EU 11 46443142 46443142 single base substitution T G intron_variant BRCA-EU 11 46443142 46443142 single base substitution T G upstream_gene_variant BRCA-EU 11 46445077 46445109 multiple base substitution (>=2bp and <=200bp) GACTACAGGCGCCTGCCACCACGCCCGGCTAGT GATTACAGGCATGGGCCACCACGCCTGGTTA intron_variant BRCA-EU 11 46445441 46445441 single base substitution G C intron_variant BRCA-EU 11 46446185 46446185 single base substitution C G intron_variant BRCA-EU 11 46446683 46446683 single base substitution C T intron_variant BRCA-EU 11 46449703 46449703 single base substitution C T intron_variant BRCA-EU 11 46449814 46449814 single base substitution C T intron_variant BRCA-EU 11 46450085 46450085 single base substitution C G intron_variant BRCA-EU 11 46451196 46451196 single base substitution A G intron_variant BRCA-EU 11 46451995 46451995 single base substitution C A downstream_gene_variant BRCA-EU 11 46451995 46451995 single base substitution C A intron_variant BRCA-EU 11 46453594 46453594 deletion of <=200bp T - downstream_gene_variant BRCA-EU 11 46453594 46453594 deletion of <=200bp T - intron_variant BRCA-EU 11 46453673 46453673 single base substitution T A downstream_gene_variant BRCA-EU 11 46453673 46453673 single base substitution T A intron_variant BRCA-EU 11 46453916 46453916 single base substitution C A downstream_gene_variant BRCA-EU 11 46453916 46453916 single base substitution C A intron_variant BRCA-EU 11 46454897 46454897 single base substitution C T downstream_gene_variant BRCA-EU 11 46454897 46454897 single base substitution C T intron_variant BRCA-EU 11 46455411 46455411 single base substitution A G downstream_gene_variant BRCA-EU 11 46455411 46455411 single base substitution A G intron_variant BRCA-EU 11 46456009 46456009 single base substitution A G downstream_gene_variant BRCA-EU 11 46456009 46456009 single base substitution A G intron_variant BRCA-EU 11 46456044 46456044 single base substitution G C downstream_gene_variant BRCA-EU 11 46456044 46456044 single base substitution G C intron_variant BRCA-EU 11 46456075 46456075 single base substitution G A downstream_gene_variant BRCA-EU 11 46456075 46456075 single base substitution G A intron_variant BRCA-EU 11 46456280 46456280 single base substitution C T downstream_gene_variant BRCA-EU 11 46456280 46456280 single base substitution C T intron_variant BRCA-EU 11 46460669 46460669 single base substitution T C intron_variant BRCA-EU 11 46461614 46461614 single base substitution T A intron_variant BRCA-EU 11 46462041 46462041 single base substitution T C intron_variant BRCA-EU 11 46462582 46462582 single base substitution G C intron_variant BRCA-EU 11 46462957 46462957 single base substitution G A intron_variant BRCA-EU 11 46463519 46463519 single base substitution A C intron_variant BRCA-EU 11 46463649 46463649 single base substitution T G intron_variant BRCA-EU 11 46463651 46463651 single base substitution G C intron_variant BRCA-EU 11 46463823 46463823 single base substitution G A intron_variant BRCA-EU 11 46464253 46464253 single base substitution T C intron_variant BRCA-EU 11 46466147 46466147 single base substitution G A intron_variant BRCA-EU 11 46466636 46466636 deletion of <=200bp A - intron_variant BRCA-EU 11 46468875 46468875 single base substitution A G intron_variant BRCA-EU 11 46472326 46472326 single base substitution C G intron_variant BRCA-EU 11 46472495 46472495 single base substitution A C intron_variant BRCA-EU 11 46473240 46473240 single base substitution G A intron_variant BRCA-EU 11 46475217 46475217 single base substitution G A intron_variant BRCA-EU 11 46475528 46475528 single base substitution A G intron_variant BRCA-EU 11 46477510 46477510 single base substitution A G intron_variant BRCA-EU 11 46479764 46479764 single base substitution A G intron_variant BRCA-EU 11 46481988 46481988 single base substitution C T intron_variant BRCA-EU 11 46482696 46482696 single base substitution G C intron_variant BRCA-EU 11 46483455 46483455 single base substitution T G intron_variant BRCA-EU 11 46484266 46484266 single base substitution C A intron_variant BRCA-EU 11 46485433 46485433 single base substitution C G intron_variant BRCA-EU 11 46485621 46485621 single base substitution G A intron_variant BRCA-EU 11 46487255 46487255 insertion of <=200bp - A intron_variant BRCA-EU 11 46487395 46487395 single base substitution C T intron_variant BRCA-EU 11 46489702 46489702 single base substitution G C intron_variant BRCA-EU 11 46489783 46489783 deletion of <=200bp A - intron_variant BRCA-EU 11 46492781 46492781 single base substitution C T intron_variant BRCA-EU 11 46493856 46493856 single base substitution G A intron_variant BRCA-EU 11 46494146 46494146 single base substitution C G intron_variant BRCA-EU 11 46495575 46495575 single base substitution T C intron_variant BRCA-EU 11 46496745 46496745 single base substitution G C intron_variant BRCA-EU 11 46498409 46498409 single base substitution T C intron_variant BRCA-EU 11 46498517 46498517 single base substitution G A intron_variant BRCA-EU 11 46500990 46500990 single base substitution T C intron_variant BRCA-EU 11 46501000 46501000 single base substitution C G intron_variant BRCA-EU 11 46501672 46501672 single base substitution A G intron_variant BRCA-EU 11 46503603 46503603 single base substitution G A intron_variant BRCA-EU 11 46505571 46505571 single base substitution A T intron_variant BRCA-EU 11 46506733 46506733 single base substitution C A intron_variant BRCA-EU 11 46508849 46508849 single base substitution A T downstream_gene_variant BRCA-EU 11 46508849 46508849 single base substitution A T intron_variant BRCA-EU 11 46509928 46509928 single base substitution C T downstream_gene_variant BRCA-EU 11 46509928 46509928 single base substitution C T intron_variant BRCA-EU 11 46510164 46510164 single base substitution G A downstream_gene_variant BRCA-EU 11 46510164 46510164 single base substitution G A intron_variant BRCA-EU 11 46510192 46510192 single base substitution C T downstream_gene_variant BRCA-EU 11 46510192 46510192 single base substitution C T intron_variant BRCA-EU 11 46510491 46510491 single base substitution C G downstream_gene_variant BRCA-EU 11 46510491 46510491 single base substitution C G intron_variant BRCA-EU 11 46512813 46512813 single base substitution G A exon_variant BRCA-EU 11 46512813 46512813 single base substitution G A intron_variant BRCA-EU 11 46515056 46515056 single base substitution G A intron_variant BRCA-EU 11 46516468 46516468 single base substitution A G exon_variant BRCA-EU 11 46516468 46516468 single base substitution A G intron_variant BRCA-EU 11 46516468 46516468 single base substitution A G upstream_gene_variant BRCA-EU 11 46516845 46516845 single base substitution G C exon_variant BRCA-EU 11 46516845 46516845 single base substitution G C intron_variant BRCA-EU 11 46516845 46516845 single base substitution G C upstream_gene_variant BRCA-EU 11 46517101 46517101 single base substitution G A intron_variant BRCA-EU 11 46517101 46517101 single base substitution G A upstream_gene_variant BRCA-EU 11 46518793 46518793 single base substitution G A intron_variant BRCA-EU 11 46518793 46518793 single base substitution G A upstream_gene_variant BRCA-EU 11 46520355 46520355 single base substitution A G intron_variant BRCA-EU 11 46520355 46520355 single base substitution A G upstream_gene_variant BRCA-EU 11 46521393 46521393 single base substitution T A downstream_gene_variant BRCA-EU 11 46521393 46521393 single base substitution T A intron_variant BRCA-EU 11 46521393 46521393 single base substitution T A upstream_gene_variant BRCA-EU 11 46522745 46522745 deletion of <=200bp A - downstream_gene_variant BRCA-EU 11 46522745 46522745 deletion of <=200bp A - intron_variant BRCA-EU 11 46523284 46523284 single base substitution G C downstream_gene_variant BRCA-EU 11 46523284 46523284 single base substitution G C intron_variant BRCA-EU 11 46523631 46523631 deletion of <=200bp T - downstream_gene_variant BRCA-EU 11 46523631 46523631 deletion of <=200bp T - intron_variant BRCA-EU 11 46523792 46523792 single base substitution G A downstream_gene_variant BRCA-EU 11 46523792 46523792 single base substitution G A intron_variant BRCA-EU 11 46527110 46527110 single base substitution A G intron_variant BRCA-EU 11 46527294 46527294 single base substitution G C intron_variant BRCA-EU 11 46529476 46529476 single base substitution C T intron_variant BRCA-EU 11 46530861 46530861 single base substitution T C intron_variant BRCA-EU 11 46530865 46530865 single base substitution A T intron_variant BRCA-EU 11 46531294 46531294 deletion of <=200bp A - intron_variant BRCA-EU 11 46532377 46532377 single base substitution A G intron_variant BRCA-EU 11 46532671 46532671 single base substitution C T intron_variant BRCA-EU 11 46533688 46533688 single base substitution G C intron_variant BRCA-EU 11 46534668 46534668 single base substitution A C intron_variant BRCA-EU 11 46534769 46534769 single base substitution C G intron_variant BRCA-EU 11 46538181 46538181 single base substitution C A intron_variant BRCA-EU 11 46538562 46538562 single base substitution C A intron_variant BRCA-EU 11 46538604 46538604 single base substitution T C intron_variant BRCA-EU 11 46539483 46539483 single base substitution G T intron_variant BRCA-EU 11 46539769 46539769 single base substitution C T intron_variant BRCA-EU 11 46539811 46539811 single base substitution C G intron_variant BRCA-EU 11 46541203 46541203 single base substitution C A intron_variant BRCA-EU 11 46541848 46541848 single base substitution A C intron_variant BRCA-EU 11 46542271 46542271 single base substitution G A intron_variant BRCA-EU 11 46543010 46543010 single base substitution T A intron_variant BRCA-EU 11 46545039 46545039 single base substitution T C intron_variant BRCA-EU 11 46545299 46545299 single base substitution G T intron_variant BRCA-EU 11 46549384 46549384 single base substitution T G intron_variant BRCA-EU 11 46549754 46549754 single base substitution G A intron_variant BRCA-EU 11 46550794 46550794 single base substitution G A intron_variant BRCA-EU 11 46550922 46550922 single base substitution G A intron_variant BRCA-EU 11 46551612 46551612 insertion of <=200bp - A intron_variant BRCA-EU 11 46552972 46552972 single base substitution G A intron_variant BRCA-EU 11 46552972 46552972 single base substitution G A upstream_gene_variant BRCA-EU 11 46555158 46555158 single base substitution C T intron_variant BRCA-EU 11 46555158 46555158 single base substitution C T upstream_gene_variant BRCA-EU 11 46559648 46559648 single base substitution C G intron_variant BRCA-EU 11 46560054 46560054 deletion of <=200bp T - intron_variant BRCA-EU 11 46560477 46560477 single base substitution C T intron_variant BRCA-EU 11 46561850 46561850 single base substitution T C intron_variant BRCA-EU 11 46562720 46562720 single base substitution C A downstream_gene_variant BRCA-EU 11 46562720 46562720 single base substitution C A intron_variant BRCA-EU 11 46562978 46562978 deletion of <=200bp T - downstream_gene_variant BRCA-EU 11 46562978 46562978 deletion of <=200bp T - intron_variant BRCA-EU 11 46563249 46563249 single base substitution C G downstream_gene_variant BRCA-EU 11 46563249 46563249 single base substitution C G intron_variant BRCA-EU 11 46564703 46564703 single base substitution G A downstream_gene_variant BRCA-EU 11 46564703 46564703 single base substitution G A intron_variant BRCA-EU 11 46564703 46564703 single base substitution G A synonymous_variant I288I 864C>T BRCA-EU 11 46566126 46566126 single base substitution A G downstream_gene_variant BRCA-EU 11 46566126 46566126 single base substitution A G intron_variant BRCA-EU 11 46566141 46566141 single base substitution G A downstream_gene_variant BRCA-EU 11 46566141 46566141 single base substitution G A intron_variant BRCA-EU 11 46567807 46567807 single base substitution C T downstream_gene_variant BRCA-EU 11 46567807 46567807 single base substitution C T intron_variant BRCA-EU 11 46567879 46567879 single base substitution C T downstream_gene_variant BRCA-EU 11 46567879 46567879 single base substitution C T intron_variant BRCA-EU 11 46568538 46568538 single base substitution T C downstream_gene_variant BRCA-EU 11 46568538 46568538 single base substitution T C intron_variant BRCA-EU 11 46570685 46570685 single base substitution A G intron_variant BRCA-EU 11 46570685 46570685 single base substitution A G upstream_gene_variant BRCA-EU 11 46571252 46571252 single base substitution C A intron_variant BRCA-EU 11 46571252 46571252 single base substitution C A upstream_gene_variant BRCA-EU 11 46571376 46571376 deletion of <=200bp G - intron_variant BRCA-EU 11 46571376 46571376 deletion of <=200bp G - upstream_gene_variant BRCA-EU 11 46571942 46571942 single base substitution G A intron_variant BRCA-EU 11 46571942 46571942 single base substitution G A upstream_gene_variant BRCA-EU 11 46572786 46572789 deletion of <=200bp CTAG - intron_variant BRCA-EU 11 46572786 46572789 deletion of <=200bp CTAG - upstream_gene_variant BRCA-EU 11 46573991 46573991 single base substitution A G intron_variant BRCA-EU 11 46575570 46575570 single base substitution A C intron_variant BRCA-EU 11 46576873 46576873 single base substitution G C intron_variant BRCA-EU 11 46577218 46577218 single base substitution A T intron_variant BRCA-EU 11 46577255 46577255 single base substitution G A intron_variant BRCA-EU 11 46577737 46577737 single base substitution G A intron_variant BRCA-EU 11 46582595 46582595 single base substitution C A intron_variant BRCA-EU 11 46583918 46583918 single base substitution C G intron_variant BRCA-EU 11 46585505 46585505 single base substitution A G intron_variant BRCA-EU 11 46586132 46586132 single base substitution A G intron_variant BRCA-EU 11 46586488 46586488 single base substitution A G intron_variant BRCA-EU 11 46586866 46586866 deletion of <=200bp T - intron_variant BRCA-EU 11 46587256 46587256 insertion of <=200bp - A intron_variant BRCA-EU 11 46587776 46587776 single base substitution C G intron_variant BRCA-EU 11 46589631 46589631 single base substitution G C intron_variant BRCA-EU 11 46590666 46590666 single base substitution T C intron_variant BRCA-EU 11 46595517 46595517 single base substitution C T intron_variant BRCA-EU 11 46597507 46597507 single base substitution C T intron_variant BRCA-EU 11 46599498 46599498 single base substitution C G intron_variant BRCA-EU 11 46600741 46600741 single base substitution C G intron_variant BRCA-EU 11 46602201 46602201 single base substitution C A intron_variant BRCA-EU 11 46604683 46604683 single base substitution G C intron_variant BRCA-EU 11 46606329 46606329 single base substitution T A intron_variant BRCA-EU 11 46607357 46607357 single base substitution A T intron_variant BRCA-EU 11 46607414 46607414 single base substitution G C intron_variant BRCA-EU 11 46607998 46607998 deletion of <=200bp T - intron_variant BRCA-EU 11 46608930 46608930 deletion of <=200bp A - intron_variant BRCA-EU 11 46609287 46609287 single base substitution A G intron_variant BRCA-EU 11 46609386 46609386 single base substitution G T intron_variant BRCA-EU 11 46611697 46611697 single base substitution C G intron_variant BRCA-EU 11 46615193 46615193 single base substitution C T intron_variant BRCA-EU 11 46615193 46615193 single base substitution C T upstream_gene_variant BRCA-EU 11 46615538 46615538 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 11 46615538 46615538 single base substitution G A exon_variant BRCA-EU 11 46615538 46615538 single base substitution G A upstream_gene_variant BRCA-EU 11 46615763 46615763 single base substitution C A upstream_gene_variant BRCA-EU 11 46617545 46617545 single base substitution C A upstream_gene_variant BRCA-EU 11 46618382 46618382 single base substitution C G upstream_gene_variant BRCA-EU 11 46618808 46618808 single base substitution G A upstream_gene_variant BRCA-EU 11 46619324 46619324 single base substitution G C upstream_gene_variant BRCA-FR 11 46414343 46414343 single base substitution C T downstream_gene_variant BRCA-FR 11 46421431 46421431 single base substitution G C intron_variant BRCA-FR 11 46422166 46422166 single base substitution G A intron_variant BRCA-FR 11 46423267 46423267 single base substitution C G intron_variant BRCA-FR 11 46430318 46430318 single base substitution C T intron_variant BRCA-FR 11 46430946 46430946 single base substitution C A intron_variant BRCA-FR 11 46441932 46441932 single base substitution C T intron_variant BRCA-FR 11 46441932 46441932 single base substitution C T upstream_gene_variant BRCA-FR 11 46442077 46442077 single base substitution C T intron_variant BRCA-FR 11 46442077 46442077 single base substitution C T upstream_gene_variant BRCA-FR 11 46442456 46442456 single base substitution C T intron_variant BRCA-FR 11 46442456 46442456 single base substitution C T upstream_gene_variant BRCA-FR 11 46442587 46442587 single base substitution C T intron_variant BRCA-FR 11 46442587 46442587 single base substitution C T upstream_gene_variant BRCA-FR 11 46453916 46453916 single base substitution C A downstream_gene_variant BRCA-FR 11 46453916 46453916 single base substitution C A intron_variant BRCA-FR 11 46456044 46456044 single base substitution G C downstream_gene_variant BRCA-FR 11 46456044 46456044 single base substitution G C intron_variant BRCA-FR 11 46472326 46472326 single base substitution C G intron_variant BRCA-FR 11 46475528 46475528 single base substitution A G intron_variant BRCA-FR 11 46477510 46477510 single base substitution A G intron_variant BRCA-FR 11 46480619 46480619 single base substitution G A intron_variant BRCA-FR 11 46481079 46481079 single base substitution G A intron_variant BRCA-FR 11 46481988 46481988 single base substitution C T intron_variant BRCA-FR 11 46483455 46483455 single base substitution T G intron_variant BRCA-FR 11 46503603 46503603 single base substitution G A intron_variant BRCA-FR 11 46510164 46510164 single base substitution G A downstream_gene_variant BRCA-FR 11 46510164 46510164 single base substitution G A intron_variant BRCA-FR 11 46530861 46530861 single base substitution T C intron_variant BRCA-FR 11 46530865 46530865 single base substitution A T intron_variant BRCA-FR 11 46534769 46534769 single base substitution C G intron_variant BRCA-FR 11 46535801 46535801 single base substitution T C intron_variant BRCA-FR 11 46538562 46538562 single base substitution C A intron_variant BRCA-FR 11 46538604 46538604 single base substitution T C intron_variant BRCA-FR 11 46539811 46539811 single base substitution C G intron_variant BRCA-FR 11 46560477 46560477 single base substitution C T intron_variant BRCA-FR 11 46582133 46582133 single base substitution G A intron_variant BRCA-FR 11 46595517 46595517 single base substitution C T intron_variant BRCA-FR 11 46599498 46599498 single base substitution C G intron_variant BRCA-FR 11 46600741 46600741 single base substitution C G intron_variant BRCA-FR 11 46602201 46602201 single base substitution C A intron_variant BRCA-FR 11 46605282 46605282 single base substitution G C intron_variant BRCA-FR 11 46613697 46613697 single base substitution C T intron_variant BRCA-FR 11 46613697 46613697 single base substitution C T upstream_gene_variant BRCA-UK 11 46474737 46474737 single base substitution C T intron_variant BRCA-UK 11 46526320 46526320 single base substitution C T intron_variant BRCA-UK 11 46529893 46529893 single base substitution C T exon_variant BRCA-UK 11 46529893 46529893 single base substitution C T intron_variant BRCA-UK 11 46529893 46529893 single base substitution C T synonymous_variant Q610Q 1830G>A BRCA-UK 11 46529893 46529893 single base substitution C T synonymous_variant Q639Q 1917G>A BRCA-UK 11 46529893 46529893 single base substitution C T synonymous_variant Q700Q 2100G>A BRCA-UK 11 46529893 46529893 single base substitution C T synonymous_variant Q729Q 2187G>A BRCA-UK 11 46564569 46564569 single base substitution G C downstream_gene_variant BRCA-UK 11 46564569 46564569 single base substitution G C intron_variant BRCA-UK 11 46564569 46564569 single base substitution G C missense_variant S333C 998C>G BRCA-UK 11 46604700 46604700 single base substitution G C intron_variant BRCA-UK 11 46613718 46613718 single base substitution C T intron_variant BRCA-UK 11 46613718 46613718 single base substitution C T upstream_gene_variant BRCA-US 11 46419038 46419038 deletion of <=200bp C - frameshift_variant D1168 BRCA-US 11 46419038 46419038 deletion of <=200bp C - frameshift_variant D1197 BRCA-US 11 46419038 46419038 deletion of <=200bp C - frameshift_variant D1227 BRCA-US 11 46419038 46419038 deletion of <=200bp C - frameshift_variant D1258 BRCA-US 11 46419038 46419038 deletion of <=200bp C - frameshift_variant D1287 BRCA-US 11 46419038 46419038 deletion of <=200bp C - frameshift_variant D245 BRCA-US 11 46419045 46419045 single base substitution G A synonymous_variant S1165S 3495C>T BRCA-US 11 46419045 46419045 single base substitution G A synonymous_variant S1194S 3582C>T BRCA-US 11 46419045 46419045 single base substitution G A synonymous_variant S1224S 3672C>T BRCA-US 11 46419045 46419045 single base substitution G A synonymous_variant S1255S 3765C>T BRCA-US 11 46419045 46419045 single base substitution G A synonymous_variant S1284S 3852C>T BRCA-US 11 46419045 46419045 single base substitution G A synonymous_variant S242S 726C>T BRCA-US 11 46419132 46419132 deletion of <=200bp G - frameshift_variant P1136 BRCA-US 11 46419132 46419132 deletion of <=200bp G - frameshift_variant P1165 BRCA-US 11 46419132 46419132 deletion of <=200bp G - frameshift_variant P1195 BRCA-US 11 46419132 46419132 deletion of <=200bp G - frameshift_variant P1226 BRCA-US 11 46419132 46419132 deletion of <=200bp G - frameshift_variant P1255 BRCA-US 11 46419132 46419132 deletion of <=200bp G - frameshift_variant P213 BRCA-US 11 46419206 46419206 single base substitution C G missense_variant A1112P 3334G>C BRCA-US 11 46419206 46419206 single base substitution C G missense_variant A1141P 3421G>C BRCA-US 11 46419206 46419206 single base substitution C G missense_variant A1171P 3511G>C BRCA-US 11 46419206 46419206 single base substitution C G missense_variant A1202P 3604G>C BRCA-US 11 46419206 46419206 single base substitution C G missense_variant A1231P 3691G>C BRCA-US 11 46419206 46419206 single base substitution C G missense_variant A189P 565G>C BRCA-US 11 46419289 46419289 single base substitution G T missense_variant T1084N 3251C>A BRCA-US 11 46419289 46419289 single base substitution G T missense_variant T1113N 3338C>A BRCA-US 11 46419289 46419289 single base substitution G T missense_variant T1143N 3428C>A BRCA-US 11 46419289 46419289 single base substitution G T missense_variant T1174N 3521C>A BRCA-US 11 46419289 46419289 single base substitution G T missense_variant T1203N 3608C>A BRCA-US 11 46419289 46419289 single base substitution G T missense_variant T161N 482C>A BRCA-US 11 46430198 46430198 single base substitution G A missense_variant L1000F 2998C>T BRCA-US 11 46430198 46430198 single base substitution G A missense_variant L1030F 3088C>T BRCA-US 11 46430198 46430198 single base substitution G A missense_variant L1061F 3181C>T BRCA-US 11 46430198 46430198 single base substitution G A missense_variant L1090F 3268C>T BRCA-US 11 46430198 46430198 single base substitution G A missense_variant L48F 142C>T BRCA-US 11 46430198 46430198 single base substitution G A missense_variant L971F 2911C>T BRCA-US 11 46455180 46455180 single base substitution T C downstream_gene_variant BRCA-US 11 46455180 46455180 single base substitution T C splice_acceptor_variant BRCA-US 11 46563794 46563794 single base substitution G T downstream_gene_variant BRCA-US 11 46563794 46563794 single base substitution G T stop_gained Y501* 1503C>A BRCA-US 11 46563794 46563794 single base substitution G T stop_gained Y591* 1773C>A BRCA-US 11 46563919 46563919 single base substitution T G downstream_gene_variant BRCA-US 11 46563919 46563919 single base substitution T G missense_variant T460P 1378A>C BRCA-US 11 46563919 46563919 single base substitution T G missense_variant T550P 1648A>C BRCA-US 11 46564000 46564000 single base substitution C A downstream_gene_variant BRCA-US 11 46564000 46564000 single base substitution C A stop_gained E433* 1297G>T BRCA-US 11 46564000 46564000 single base substitution C A stop_gained E523* 1567G>T BRCA-US 11 46564007 46564007 single base substitution C G downstream_gene_variant BRCA-US 11 46564007 46564007 single base substitution C G synonymous_variant L430L 1290G>C BRCA-US 11 46564007 46564007 single base substitution C G synonymous_variant L520L 1560G>C BRCA-US 11 46564007 46564007 single base substitution C T downstream_gene_variant BRCA-US 11 46564007 46564007 single base substitution C T synonymous_variant L430L 1290G>A BRCA-US 11 46564007 46564007 single base substitution C T synonymous_variant L520L 1560G>A BRCA-US 11 46567261 46567261 single base substitution C T downstream_gene_variant BRCA-US 11 46567261 46567261 single base substitution C T exon_variant BRCA-US 11 46567261 46567261 single base substitution C T synonymous_variant T148T 444G>A BRCA-US 11 46567268 46567268 single base substitution T G downstream_gene_variant BRCA-US 11 46567268 46567268 single base substitution T G exon_variant BRCA-US 11 46567268 46567268 single base substitution T G missense_variant H146P 437A>C BRCA-US 11 46568609 46568609 deletion of <=200bp A - downstream_gene_variant BRCA-US 11 46568609 46568609 deletion of <=200bp A - exon_variant BRCA-US 11 46568609 46568609 deletion of <=200bp A - intron_variant BRCA-US 11 46568822 46568822 single base substitution C T downstream_gene_variant BRCA-US 11 46568822 46568822 single base substitution C T exon_variant BRCA-US 11 46568822 46568822 single base substitution C T intron_variant BRCA-US 11 46568822 46568822 single base substitution C T synonymous_variant V73V 219G>A BTCA-JP 11 46419263 46419264 deletion of <=200bp GA - frameshift_variant SR1092 BTCA-JP 11 46419263 46419264 deletion of <=200bp GA - frameshift_variant SR1121 BTCA-JP 11 46419263 46419264 deletion of <=200bp GA - frameshift_variant SR1151 BTCA-JP 11 46419263 46419264 deletion of <=200bp GA - frameshift_variant SR1182 BTCA-JP 11 46419263 46419264 deletion of <=200bp GA - frameshift_variant SR1211 BTCA-JP 11 46419263 46419264 deletion of <=200bp GA - frameshift_variant SR169 BTCA-JP 11 46456570 46456570 single base substitution C T exon_variant BTCA-JP 11 46456570 46456570 single base substitution C T missense_variant V765M 2293G>A BTCA-JP 11 46456570 46456570 single base substitution C T missense_variant V794M 2380G>A BTCA-JP 11 46456570 46456570 single base substitution C T missense_variant V824M 2470G>A BTCA-JP 11 46456570 46456570 single base substitution C T missense_variant V855M 2563G>A BTCA-JP 11 46456570 46456570 single base substitution C T missense_variant V884M 2650G>A BTCA-JP 11 46465088 46465088 single base substitution C T exon_variant BTCA-JP 11 46465088 46465088 single base substitution C T missense_variant R742Q 2225G>A BTCA-JP 11 46465088 46465088 single base substitution C T missense_variant R771Q 2312G>A BTCA-JP 11 46465088 46465088 single base substitution C T missense_variant R801Q 2402G>A BTCA-JP 11 46465088 46465088 single base substitution C T missense_variant R832Q 2495G>A BTCA-JP 11 46465088 46465088 single base substitution C T missense_variant R861Q 2582G>A BTCA-JP 11 46515156 46515156 single base substitution A G splice_donor_variant BTCA-JP 11 46515310 46515310 single base substitution G T exon_variant BTCA-JP 11 46515310 46515310 single base substitution G T intron_variant BTCA-JP 11 46529706 46529706 single base substitution G T intron_variant BTCA-JP 11 46564870 46564870 single base substitution G C downstream_gene_variant BTCA-JP 11 46564870 46564870 single base substitution G C missense_variant P233A 697C>G BTCA-JP 11 46568621 46568621 single base substitution T A downstream_gene_variant BTCA-JP 11 46568621 46568621 single base substitution T A exon_variant BTCA-JP 11 46568621 46568621 single base substitution T A intron_variant CESC-US 11 46430214 46430214 single base substitution C T synonymous_variant L1024L 3072G>A CESC-US 11 46430214 46430214 single base substitution C T synonymous_variant L1055L 3165G>A CESC-US 11 46430214 46430214 single base substitution C T synonymous_variant L1084L 3252G>A CESC-US 11 46430214 46430214 single base substitution C T synonymous_variant L42L 126G>A CESC-US 11 46430214 46430214 single base substitution C T synonymous_variant L965L 2895G>A CESC-US 11 46430214 46430214 single base substitution C T synonymous_variant L994L 2982G>A CESC-US 11 46529873 46529873 single base substitution G C exon_variant CESC-US 11 46529873 46529873 single base substitution G C intron_variant CESC-US 11 46529873 46529873 single base substitution G C stop_gained S617* 1850C>G CESC-US 11 46529873 46529873 single base substitution G C stop_gained S646* 1937C>G CESC-US 11 46529873 46529873 single base substitution G C stop_gained S707* 2120C>G CESC-US 11 46529873 46529873 single base substitution G C stop_gained S736* 2207C>G CESC-US 11 46564315 46564315 single base substitution C G downstream_gene_variant CESC-US 11 46564315 46564315 single base substitution C G missense_variant E328Q 982G>C CESC-US 11 46564315 46564315 single base substitution C G missense_variant E418Q 1252G>C CESC-US 11 46568609 46568609 deletion of <=200bp A - downstream_gene_variant CESC-US 11 46568609 46568609 deletion of <=200bp A - exon_variant CESC-US 11 46568609 46568609 deletion of <=200bp A - intron_variant CESC-US 11 46569828 46569828 single base substitution C G downstream_gene_variant CESC-US 11 46569828 46569828 single base substitution C G exon_variant CESC-US 11 46569828 46569828 single base substitution C G missense_variant D35H 103G>C CESC-US 11 46569828 46569828 single base substitution C G upstream_gene_variant CESC-US 11 46569840 46569840 single base substitution C T downstream_gene_variant CESC-US 11 46569840 46569840 single base substitution C T exon_variant CESC-US 11 46569840 46569840 single base substitution C T missense_variant E31K 91G>A CESC-US 11 46569840 46569840 single base substitution C T upstream_gene_variant CLLE-ES 11 46418767 46418767 single base substitution C T 3_prime_UTR_variant CLLE-ES 11 46418767 46418767 single base substitution C T downstream_gene_variant CLLE-ES 11 46435379 46435379 single base substitution T A intron_variant CLLE-ES 11 46435928 46435928 single base substitution A C intron_variant CLLE-ES 11 46548081 46548081 single base substitution A T intron_variant CLLE-ES 11 46587053 46587053 single base substitution T A intron_variant CLLE-ES 11 46590459 46590459 single base substitution C T intron_variant COAD-US 11 46431921 46431921 deletion of <=200bp A - intron_variant COAD-US 11 46431921 46431921 deletion of <=200bp A - splice_region_variant COAD-US 11 46439591 46439591 single base substitution G A synonymous_variant N877N 2631C>T COAD-US 11 46439591 46439591 single base substitution G A synonymous_variant N906N 2718C>T COAD-US 11 46439591 46439591 single base substitution G A synonymous_variant N936N 2808C>T COAD-US 11 46439591 46439591 single base substitution G A synonymous_variant N967N 2901C>T COAD-US 11 46439591 46439591 single base substitution G A synonymous_variant N996N 2988C>T COAD-US 11 46439591 46439591 single base substitution G A upstream_gene_variant COAD-US 11 46515257 46515257 single base substitution G A exon_variant COAD-US 11 46515257 46515257 single base substitution G A missense_variant R689C 2065C>T COAD-US 11 46515257 46515257 single base substitution G A missense_variant R718C 2152C>T COAD-US 11 46515257 46515257 single base substitution G A missense_variant R748C 2242C>T COAD-US 11 46515257 46515257 single base substitution G A missense_variant R779C 2335C>T COAD-US 11 46515257 46515257 single base substitution G A missense_variant R808C 2422C>T COAD-US 11 46515257 46515257 single base substitution G A splice_region_variant COAD-US 11 46515674 46515674 single base substitution C A missense_variant R688M 2063G>T COAD-US 11 46515674 46515674 single base substitution C A missense_variant R717M 2150G>T COAD-US 11 46515674 46515674 single base substitution C A missense_variant R747M 2240G>T COAD-US 11 46515674 46515674 single base substitution C A missense_variant R778M 2333G>T COAD-US 11 46515674 46515674 single base substitution C A missense_variant R807M 2420G>T COAD-US 11 46515674 46515674 single base substitution C A splice_region_variant COAD-US 11 46515674 46515674 single base substitution C A upstream_gene_variant COAD-US 11 46529745 46529745 single base substitution A C exon_variant COAD-US 11 46529745 46529745 single base substitution A C intron_variant COAD-US 11 46529745 46529745 single base substitution A C missense_variant F660V 1978T>G COAD-US 11 46529745 46529745 single base substitution A C missense_variant F689V 2065T>G COAD-US 11 46529745 46529745 single base substitution A C missense_variant F750V 2248T>G COAD-US 11 46529745 46529745 single base substitution A C missense_variant F779V 2335T>G COAD-US 11 46529902 46529902 single base substitution G A exon_variant COAD-US 11 46529902 46529902 single base substitution G A intron_variant COAD-US 11 46529902 46529902 single base substitution G A synonymous_variant Y607Y 1821C>T COAD-US 11 46529902 46529902 single base substitution G A synonymous_variant Y636Y 1908C>T COAD-US 11 46529902 46529902 single base substitution G A synonymous_variant Y697Y 2091C>T COAD-US 11 46529902 46529902 single base substitution G A synonymous_variant Y726Y 2178C>T COAD-US 11 46563889 46563889 single base substitution G T downstream_gene_variant COAD-US 11 46563889 46563889 single base substitution G T missense_variant L470M 1408C>A COAD-US 11 46563889 46563889 single base substitution G T missense_variant L560M 1678C>A COAD-US 11 46563975 46563975 single base substitution T A downstream_gene_variant COAD-US 11 46563975 46563975 single base substitution T A missense_variant Q441L 1322A>T COAD-US 11 46563975 46563975 single base substitution T A missense_variant Q531L 1592A>T COAD-US 11 46564499 46564499 single base substitution C T downstream_gene_variant COAD-US 11 46564499 46564499 single base substitution C T synonymous_variant S266S 798G>A COAD-US 11 46564499 46564499 single base substitution C T synonymous_variant S356S 1068G>A COAD-US 11 46564939 46564939 single base substitution C T downstream_gene_variant COAD-US 11 46564939 46564939 single base substitution C T missense_variant E210K 628G>A COAD-US 11 46565568 46565568 single base substitution C A downstream_gene_variant COAD-US 11 46565568 46565568 single base substitution C A missense_variant G192V 575G>T COAD-US 11 46565569 46565569 single base substitution C A downstream_gene_variant COAD-US 11 46565569 46565569 single base substitution C A stop_gained G192* 574G>T COAD-US 11 46569917 46569917 single base substitution G A exon_variant COAD-US 11 46569917 46569917 single base substitution G A missense_variant P5L 14C>T COAD-US 11 46569917 46569917 single base substitution G A upstream_gene_variant COCA-CN 11 46419478 46419478 single base substitution T C missense_variant Y1021C 3062A>G COCA-CN 11 46419478 46419478 single base substitution T C missense_variant Y1050C 3149A>G COCA-CN 11 46419478 46419478 single base substitution T C missense_variant Y1080C 3239A>G COCA-CN 11 46419478 46419478 single base substitution T C missense_variant Y1111C 3332A>G COCA-CN 11 46419478 46419478 single base substitution T C missense_variant Y1140C 3419A>G COCA-CN 11 46419478 46419478 single base substitution T C missense_variant Y98C 293A>G COCA-CN 11 46419522 46419522 single base substitution G A intron_variant COCA-CN 11 46423497 46423497 single base substitution A G intron_variant COCA-CN 11 46425512 46425512 single base substitution G A intron_variant COCA-CN 11 46432665 46432665 single base substitution G A intron_variant COCA-CN 11 46439385 46439385 single base substitution G T intron_variant COCA-CN 11 46454967 46454967 single base substitution A G downstream_gene_variant COCA-CN 11 46454967 46454967 single base substitution A G intron_variant COCA-CN 11 46548754 46548754 single base substitution C G intron_variant COCA-CN 11 46557759 46557759 single base substitution C T intron_variant COCA-CN 11 46558010 46558010 single base substitution T A intron_variant COCA-CN 11 46558011 46558011 single base substitution C T intron_variant COCA-CN 11 46558208 46558208 single base substitution C T intron_variant COCA-CN 11 46558264 46558264 single base substitution C G intron_variant COCA-CN 11 46558359 46558359 single base substitution C G intron_variant COCA-CN 11 46558413 46558413 single base substitution C G intron_variant COCA-CN 11 46558436 46558436 single base substitution C T intron_variant COCA-CN 11 46558577 46558577 single base substitution C G intron_variant COCA-CN 11 46558881 46558881 single base substitution C T intron_variant COCA-CN 11 46558903 46558903 single base substitution C A intron_variant COCA-CN 11 46558935 46558935 single base substitution C T intron_variant COCA-CN 11 46558956 46558956 single base substitution C T intron_variant COCA-CN 11 46558985 46558985 single base substitution C A intron_variant COCA-CN 11 46559092 46559092 single base substitution C A intron_variant COCA-CN 11 46559602 46559602 single base substitution C A intron_variant COCA-CN 11 46559616 46559616 single base substitution C G intron_variant COCA-CN 11 46559678 46559678 single base substitution C G intron_variant COCA-CN 11 46559743 46559743 single base substitution C T intron_variant COCA-CN 11 46559761 46559761 single base substitution C T intron_variant COCA-CN 11 46563484 46563484 single base substitution C T downstream_gene_variant COCA-CN 11 46563484 46563484 single base substitution C T intron_variant COCA-CN 11 46563985 46563985 single base substitution G A downstream_gene_variant COCA-CN 11 46563985 46563985 single base substitution G A stop_gained Q438* 1312C>T COCA-CN 11 46563985 46563985 single base substitution G A stop_gained Q528* 1582C>T COCA-CN 11 46564342 46564342 single base substitution C A downstream_gene_variant COCA-CN 11 46564342 46564342 single base substitution C A stop_gained E319* 955G>T COCA-CN 11 46564342 46564342 single base substitution C A stop_gained E409* 1225G>T COCA-CN 11 46567604 46567604 single base substitution G T downstream_gene_variant COCA-CN 11 46567604 46567604 single base substitution G T intron_variant COCA-CN 11 46569923 46569923 single base substitution A T exon_variant COCA-CN 11 46569923 46569923 single base substitution A T missense_variant V3D 8T>A COCA-CN 11 46569923 46569923 single base substitution A T upstream_gene_variant COCA-CN 11 46573345 46573345 single base substitution A C intron_variant COCA-CN 11 46573345 46573345 single base substitution A C upstream_gene_variant COCA-CN 11 46583861 46583861 single base substitution A G intron_variant COCA-CN 11 46585781 46585781 single base substitution A G intron_variant COCA-CN 11 46589657 46589657 single base substitution C T intron_variant COCA-CN 11 46590990 46590990 single base substitution A T intron_variant EOPC-DE 11 46445925 46445925 single base substitution G A intron_variant EOPC-DE 11 46600618 46600618 single base substitution T A intron_variant ESAD-UK 11 46417437 46417437 single base substitution A C downstream_gene_variant ESAD-UK 11 46417974 46417974 single base substitution T C 3_prime_UTR_variant ESAD-UK 11 46417974 46417974 single base substitution T C downstream_gene_variant ESAD-UK 11 46419010 46419010 single base substitution C T missense_variant R1177Q 3530G>A ESAD-UK 11 46419010 46419010 single base substitution C T missense_variant R1206Q 3617G>A ESAD-UK 11 46419010 46419010 single base substitution C T missense_variant R1236Q 3707G>A ESAD-UK 11 46419010 46419010 single base substitution C T missense_variant R1267Q 3800G>A ESAD-UK 11 46419010 46419010 single base substitution C T missense_variant R1296Q 3887G>A ESAD-UK 11 46419010 46419010 single base substitution C T missense_variant R254Q 761G>A ESAD-UK 11 46419176 46419176 single base substitution G A missense_variant R1122W 3364C>T ESAD-UK 11 46419176 46419176 single base substitution G A missense_variant R1151W 3451C>T ESAD-UK 11 46419176 46419176 single base substitution G A missense_variant R1181W 3541C>T ESAD-UK 11 46419176 46419176 single base substitution G A missense_variant R1212W 3634C>T ESAD-UK 11 46419176 46419176 single base substitution G A missense_variant R1241W 3721C>T ESAD-UK 11 46419176 46419176 single base substitution G A missense_variant R199W 595C>T ESAD-UK 11 46419518 46419518 single base substitution G A intron_variant ESAD-UK 11 46426865 46426865 single base substitution C T intron_variant ESAD-UK 11 46429648 46429648 single base substitution G T intron_variant ESAD-UK 11 46437421 46437421 single base substitution A T intron_variant ESAD-UK 11 46441142 46441142 single base substitution C A intron_variant ESAD-UK 11 46441142 46441142 single base substitution C A upstream_gene_variant ESAD-UK 11 46441268 46441268 single base substitution T C intron_variant ESAD-UK 11 46441268 46441268 single base substitution T C upstream_gene_variant ESAD-UK 11 46442453 46442453 single base substitution A G intron_variant ESAD-UK 11 46442453 46442453 single base substitution A G upstream_gene_variant ESAD-UK 11 46444092 46444092 single base substitution T A intron_variant ESAD-UK 11 46444092 46444092 single base substitution T A upstream_gene_variant ESAD-UK 11 46445059 46445059 single base substitution A C intron_variant ESAD-UK 11 46445402 46445402 single base substitution C T intron_variant ESAD-UK 11 46447385 46447385 single base substitution G A intron_variant ESAD-UK 11 46448157 46448157 deletion of <=200bp C - intron_variant ESAD-UK 11 46450807 46450807 single base substitution G A intron_variant ESAD-UK 11 46450944 46450944 single base substitution T G intron_variant ESAD-UK 11 46453799 46453799 single base substitution A C downstream_gene_variant ESAD-UK 11 46453799 46453799 single base substitution A C intron_variant ESAD-UK 11 46456837 46456837 single base substitution T C intron_variant ESAD-UK 11 46456844 46456844 single base substitution C T intron_variant ESAD-UK 11 46458569 46458569 single base substitution C T intron_variant ESAD-UK 11 46459063 46459063 single base substitution G A intron_variant ESAD-UK 11 46459762 46459762 single base substitution C A intron_variant ESAD-UK 11 46464151 46464153 deletion of <=200bp TGT - intron_variant ESAD-UK 11 46464501 46464501 single base substitution A T intron_variant ESAD-UK 11 46465322 46465322 single base substitution C T intron_variant ESAD-UK 11 46465681 46465681 single base substitution A G intron_variant ESAD-UK 11 46466482 46466482 single base substitution C A intron_variant ESAD-UK 11 46467742 46467742 insertion of <=200bp - T intron_variant ESAD-UK 11 46468109 46468109 single base substitution C G intron_variant ESAD-UK 11 46468278 46468278 insertion of <=200bp - A intron_variant ESAD-UK 11 46472083 46472083 single base substitution G A intron_variant ESAD-UK 11 46473016 46473016 single base substitution T C intron_variant ESAD-UK 11 46474336 46474336 single base substitution C A intron_variant ESAD-UK 11 46477772 46477772 single base substitution A G intron_variant ESAD-UK 11 46481508 46481508 single base substitution G A intron_variant ESAD-UK 11 46482155 46482155 single base substitution G A intron_variant ESAD-UK 11 46482163 46482163 single base substitution G A intron_variant ESAD-UK 11 46484554 46484554 single base substitution T G intron_variant ESAD-UK 11 46485702 46485702 single base substitution C G intron_variant ESAD-UK 11 46490214 46490214 deletion of <=200bp T - intron_variant ESAD-UK 11 46490999 46490999 single base substitution A C intron_variant ESAD-UK 11 46493570 46493570 single base substitution C A intron_variant ESAD-UK 11 46493636 46493636 single base substitution C T intron_variant ESAD-UK 11 46493854 46493854 single base substitution T C intron_variant ESAD-UK 11 46506446 46506446 single base substitution C T intron_variant ESAD-UK 11 46507304 46507304 single base substitution T G intron_variant ESAD-UK 11 46508114 46508114 single base substitution C T downstream_gene_variant ESAD-UK 11 46508114 46508114 single base substitution C T intron_variant ESAD-UK 11 46510011 46510011 single base substitution C A downstream_gene_variant ESAD-UK 11 46510011 46510011 single base substitution C A intron_variant ESAD-UK 11 46510451 46510451 single base substitution G A downstream_gene_variant ESAD-UK 11 46510451 46510451 single base substitution G A intron_variant ESAD-UK 11 46513854 46513854 deletion of <=200bp G - intron_variant ESAD-UK 11 46516331 46516331 single base substitution G T exon_variant ESAD-UK 11 46516331 46516331 single base substitution G T intron_variant ESAD-UK 11 46516331 46516331 single base substitution G T upstream_gene_variant ESAD-UK 11 46517542 46517542 single base substitution C G intron_variant ESAD-UK 11 46517542 46517542 single base substitution C G upstream_gene_variant ESAD-UK 11 46519656 46519656 single base substitution G A intron_variant ESAD-UK 11 46519656 46519656 single base substitution G A upstream_gene_variant ESAD-UK 11 46519780 46519780 single base substitution T G intron_variant ESAD-UK 11 46519780 46519780 single base substitution T G upstream_gene_variant ESAD-UK 11 46520392 46520392 single base substitution A T intron_variant ESAD-UK 11 46520392 46520392 single base substitution A T upstream_gene_variant ESAD-UK 11 46522195 46522195 single base substitution C G downstream_gene_variant ESAD-UK 11 46522195 46522195 single base substitution C G intron_variant ESAD-UK 11 46527228 46527228 single base substitution G T intron_variant ESAD-UK 11 46530435 46530435 single base substitution C T intron_variant ESAD-UK 11 46534999 46534999 insertion of <=200bp - T intron_variant ESAD-UK 11 46536386 46536387 deletion of <=200bp TT - intron_variant ESAD-UK 11 46536667 46536667 single base substitution T A intron_variant ESAD-UK 11 46539483 46539483 single base substitution G T intron_variant ESAD-UK 11 46543945 46543945 single base substitution T A intron_variant ESAD-UK 11 46544115 46544115 single base substitution T A intron_variant ESAD-UK 11 46547683 46547683 single base substitution A T intron_variant ESAD-UK 11 46548250 46548250 single base substitution T G intron_variant ESAD-UK 11 46552741 46552741 single base substitution C A intron_variant ESAD-UK 11 46552741 46552741 single base substitution C A upstream_gene_variant ESAD-UK 11 46553170 46553170 single base substitution G T intron_variant ESAD-UK 11 46553170 46553170 single base substitution G T upstream_gene_variant ESAD-UK 11 46553766 46553766 single base substitution C T intron_variant ESAD-UK 11 46553766 46553766 single base substitution C T upstream_gene_variant ESAD-UK 11 46555830 46555830 single base substitution G A intron_variant ESAD-UK 11 46555830 46555830 single base substitution G A upstream_gene_variant ESAD-UK 11 46557254 46557254 single base substitution T C intron_variant ESAD-UK 11 46560054 46560054 single base substitution T G intron_variant ESAD-UK 11 46566988 46566988 single base substitution G T downstream_gene_variant ESAD-UK 11 46566988 46566988 single base substitution G T intron_variant ESAD-UK 11 46570833 46570833 single base substitution A T intron_variant ESAD-UK 11 46570833 46570833 single base substitution A T upstream_gene_variant ESAD-UK 11 46571231 46571231 deletion of <=200bp A - intron_variant ESAD-UK 11 46571231 46571231 deletion of <=200bp A - upstream_gene_variant ESAD-UK 11 46571492 46571492 single base substitution C T intron_variant ESAD-UK 11 46571492 46571492 single base substitution C T upstream_gene_variant ESAD-UK 11 46572863 46572863 single base substitution T G intron_variant ESAD-UK 11 46572863 46572863 single base substitution T G upstream_gene_variant ESAD-UK 11 46574531 46574531 single base substitution C T intron_variant ESAD-UK 11 46574669 46574669 single base substitution T C intron_variant ESAD-UK 11 46574772 46574772 single base substitution C T intron_variant ESAD-UK 11 46575249 46575249 single base substitution C T intron_variant ESAD-UK 11 46577571 46577571 single base substitution T A intron_variant ESAD-UK 11 46578380 46578380 single base substitution G T intron_variant ESAD-UK 11 46579972 46579972 single base substitution G A intron_variant ESAD-UK 11 46579973 46579973 single base substitution C A intron_variant ESAD-UK 11 46588615 46588615 insertion of <=200bp - TGTT intron_variant ESAD-UK 11 46588925 46588925 single base substitution T C intron_variant ESAD-UK 11 46590507 46590507 single base substitution C T intron_variant ESAD-UK 11 46591254 46591254 single base substitution G C intron_variant ESAD-UK 11 46594142 46594142 single base substitution G C intron_variant ESAD-UK 11 46598631 46598631 single base substitution T C intron_variant ESAD-UK 11 46601431 46601431 single base substitution T G intron_variant ESAD-UK 11 46601639 46601639 single base substitution G C intron_variant ESAD-UK 11 46607067 46607067 single base substitution T G intron_variant ESAD-UK 11 46607580 46607580 single base substitution C G intron_variant ESAD-UK 11 46607870 46607870 single base substitution A G intron_variant ESAD-UK 11 46608727 46608727 single base substitution C T intron_variant ESAD-UK 11 46612655 46612655 single base substitution G A intron_variant ESAD-UK 11 46613421 46613421 single base substitution C A intron_variant ESAD-UK 11 46613421 46613421 single base substitution C A upstream_gene_variant ESAD-UK 11 46613609 46613609 single base substitution C T intron_variant ESAD-UK 11 46613609 46613609 single base substitution C T upstream_gene_variant ESAD-UK 11 46614777 46614777 single base substitution G T intron_variant ESAD-UK 11 46614777 46614777 single base substitution G T upstream_gene_variant ESAD-UK 11 46615592 46615592 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 11 46615592 46615592 single base substitution G A upstream_gene_variant ESAD-UK 11 46616039 46616039 single base substitution C T upstream_gene_variant ESAD-UK 11 46616344 46616344 single base substitution G A upstream_gene_variant ESAD-UK 11 46617923 46617923 single base substitution C T upstream_gene_variant ESAD-UK 11 46620559 46620559 single base substitution G A upstream_gene_variant GBM-US 11 46439460 46439460 insertion of <=200bp - A intron_variant GBM-US 11 46439460 46439460 insertion of <=200bp - A splice_region_variant GBM-US 11 46568697 46568697 single base substitution C A downstream_gene_variant GBM-US 11 46568697 46568697 single base substitution C A exon_variant GBM-US 11 46568697 46568697 single base substitution C A intron_variant GBM-US 11 46568697 46568697 single base substitution C A missense_variant C115F 344G>T KIRC-US 11 46439573 46439574 deletion of <=200bp AG - frameshift_variant P1002 KIRC-US 11 46439573 46439574 deletion of <=200bp AG - frameshift_variant P883 KIRC-US 11 46439573 46439574 deletion of <=200bp AG - frameshift_variant P912 KIRC-US 11 46439573 46439574 deletion of <=200bp AG - frameshift_variant P942 KIRC-US 11 46439573 46439574 deletion of <=200bp AG - frameshift_variant P973 KIRC-US 11 46439573 46439574 deletion of <=200bp AG - upstream_gene_variant KIRC-US 11 46563577 46563577 single base substitution A G downstream_gene_variant KIRC-US 11 46563577 46563577 single base substitution A G missense_variant S574P 1720T>C KIRC-US 11 46563577 46563577 single base substitution A G missense_variant S664P 1990T>C KIRC-US 11 46567203 46567203 single base substitution G A downstream_gene_variant KIRC-US 11 46567203 46567203 single base substitution G A missense_variant R168W 502C>T KIRP-US 11 46419222 46419222 single base substitution G A synonymous_variant G1106G 3318C>T KIRP-US 11 46419222 46419222 single base substitution G A synonymous_variant G1135G 3405C>T KIRP-US 11 46419222 46419222 single base substitution G A synonymous_variant G1165G 3495C>T KIRP-US 11 46419222 46419222 single base substitution G A synonymous_variant G1196G 3588C>T KIRP-US 11 46419222 46419222 single base substitution G A synonymous_variant G1225G 3675C>T KIRP-US 11 46419222 46419222 single base substitution G A synonymous_variant G183G 549C>T LAML-KR 11 46415436 46415436 single base substitution T G downstream_gene_variant LAML-KR 11 46428473 46428473 single base substitution T G intron_variant LAML-KR 11 46445414 46445414 single base substitution A T intron_variant LAML-KR 11 46456344 46456344 single base substitution C T downstream_gene_variant LAML-KR 11 46456344 46456344 single base substitution C T intron_variant LAML-KR 11 46528681 46528681 single base substitution T A intron_variant LAML-KR 11 46528695 46528695 single base substitution G C intron_variant LAML-KR 11 46617283 46617283 single base substitution T G upstream_gene_variant LAML-KR 11 46617289 46617289 single base substitution C G upstream_gene_variant LAML-KR 11 46618793 46618793 single base substitution C T upstream_gene_variant LGG-US 11 46419176 46419176 single base substitution G A missense_variant R1122W 3364C>T LGG-US 11 46419176 46419176 single base substitution G A missense_variant R1151W 3451C>T LGG-US 11 46419176 46419176 single base substitution G A missense_variant R1181W 3541C>T LGG-US 11 46419176 46419176 single base substitution G A missense_variant R1212W 3634C>T LGG-US 11 46419176 46419176 single base substitution G A missense_variant R1241W 3721C>T LGG-US 11 46419176 46419176 single base substitution G A missense_variant R199W 595C>T LGG-US 11 46431879 46431879 single base substitution C G intron_variant LGG-US 11 46431879 46431879 single base substitution C G synonymous_variant L1023L 3069G>C LGG-US 11 46431879 46431879 single base substitution C G synonymous_variant L1052L 3156G>C LGG-US 11 46431879 46431879 single base substitution C G synonymous_variant L933L 2799G>C LGG-US 11 46431879 46431879 single base substitution C G synonymous_variant L962L 2886G>C LGG-US 11 46431879 46431879 single base substitution C G synonymous_variant L992L 2976G>C LGG-US 11 46456428 46456428 insertion of <=200bp - GGTTATGGGG exon_variant LGG-US 11 46456428 46456428 insertion of <=200bp - GGTTATGGGG frameshift_variant L812LPIT? LGG-US 11 46456428 46456428 insertion of <=200bp - GGTTATGGGG frameshift_variant L841LPIT? LGG-US 11 46456428 46456428 insertion of <=200bp - GGTTATGGGG frameshift_variant L871LPIT? LGG-US 11 46456428 46456428 insertion of <=200bp - GGTTATGGGG frameshift_variant L902LPIT? LGG-US 11 46456428 46456428 insertion of <=200bp - GGTTATGGGG frameshift_variant L931LPIT? LGG-US 11 46563768 46563768 single base substitution C T downstream_gene_variant LGG-US 11 46563768 46563768 single base substitution C T stop_gained W510* 1529G>A LGG-US 11 46563768 46563768 single base substitution C T stop_gained W600* 1799G>A LICA-CN 11 46430189 46430189 single base substitution G A missense_variant R1003W 3007C>T LICA-CN 11 46430189 46430189 single base substitution G A missense_variant R1033W 3097C>T LICA-CN 11 46430189 46430189 single base substitution G A missense_variant R1064W 3190C>T LICA-CN 11 46430189 46430189 single base substitution G A missense_variant R1093W 3277C>T LICA-CN 11 46430189 46430189 single base substitution G A missense_variant R51W 151C>T LICA-CN 11 46430189 46430189 single base substitution G A missense_variant R974W 2920C>T LICA-CN 11 46569810 46569810 single base substitution T A downstream_gene_variant LICA-CN 11 46569810 46569810 single base substitution T A exon_variant LICA-CN 11 46569810 46569810 single base substitution T A stop_gained K41* 121A>T LICA-CN 11 46569810 46569810 single base substitution T A upstream_gene_variant LICA-FR 11 46446861 46446861 insertion of <=200bp - TGTGTG intron_variant LICA-FR 11 46500189 46500189 single base substitution C T intron_variant LICA-FR 11 46503830 46503830 single base substitution A T intron_variant LICA-FR 11 46507699 46507699 single base substitution C A downstream_gene_variant LICA-FR 11 46507699 46507699 single base substitution C A intron_variant LICA-FR 11 46520236 46520236 single base substitution A C intron_variant LICA-FR 11 46520236 46520236 single base substitution A C upstream_gene_variant LICA-FR 11 46554687 46554687 single base substitution T C intron_variant LICA-FR 11 46554687 46554687 single base substitution T C upstream_gene_variant LICA-FR 11 46562949 46562949 single base substitution C T downstream_gene_variant LICA-FR 11 46562949 46562949 single base substitution C T intron_variant LICA-FR 11 46566722 46566722 single base substitution G T downstream_gene_variant LICA-FR 11 46566722 46566722 single base substitution G T intron_variant LICA-FR 11 46568722 46568722 single base substitution T C downstream_gene_variant LICA-FR 11 46568722 46568722 single base substitution T C exon_variant LICA-FR 11 46568722 46568722 single base substitution T C intron_variant LICA-FR 11 46568722 46568722 single base substitution T C missense_variant I107V 319A>G LICA-FR 11 46574229 46574229 deletion of <=200bp A - intron_variant LICA-FR 11 46581647 46581647 single base substitution T A intron_variant LICA-FR 11 46586580 46586580 single base substitution G A intron_variant LICA-FR 11 46596020 46596020 single base substitution A G intron_variant LICA-FR 11 46603188 46603188 single base substitution C A intron_variant LICA-FR 11 46607565 46607565 single base substitution G T intron_variant LIHC-US 11 46419099 46419099 single base substitution T C synonymous_variant P1147P 3441A>G LIHC-US 11 46419099 46419099 single base substitution T C synonymous_variant P1176P 3528A>G LIHC-US 11 46419099 46419099 single base substitution T C synonymous_variant P1206P 3618A>G LIHC-US 11 46419099 46419099 single base substitution T C synonymous_variant P1237P 3711A>G LIHC-US 11 46419099 46419099 single base substitution T C synonymous_variant P1266P 3798A>G LIHC-US 11 46419099 46419099 single base substitution T C synonymous_variant P224P 672A>G LIHC-US 11 46430118 46430118 single base substitution T C synonymous_variant T1026T 3078A>G LIHC-US 11 46430118 46430118 single base substitution T C synonymous_variant T1056T 3168A>G LIHC-US 11 46430118 46430118 single base substitution T C synonymous_variant T1087T 3261A>G LIHC-US 11 46430118 46430118 single base substitution T C synonymous_variant T1116T 3348A>G LIHC-US 11 46430118 46430118 single base substitution T C synonymous_variant T74T 222A>G LIHC-US 11 46430118 46430118 single base substitution T C synonymous_variant T997T 2991A>G LIHC-US 11 46455063 46455063 single base substitution G T downstream_gene_variant LIHC-US 11 46455063 46455063 single base substitution G T missense_variant F860L 2580C>A LIHC-US 11 46455063 46455063 single base substitution G T missense_variant F889L 2667C>A LIHC-US 11 46455063 46455063 single base substitution G T missense_variant F919L 2757C>A LIHC-US 11 46455063 46455063 single base substitution G T missense_variant F950L 2850C>A LIHC-US 11 46455063 46455063 single base substitution G T missense_variant F979L 2937C>A LIHC-US 11 46569854 46569854 single base substitution T C downstream_gene_variant LIHC-US 11 46569854 46569854 single base substitution T C exon_variant LIHC-US 11 46569854 46569854 single base substitution T C missense_variant Q26R 77A>G LIHC-US 11 46569854 46569854 single base substitution T C upstream_gene_variant LINC-JP 11 46421654 46421654 single base substitution T G intron_variant LINC-JP 11 46440718 46440718 single base substitution T C intron_variant LINC-JP 11 46440718 46440718 single base substitution T C upstream_gene_variant LINC-JP 11 46447128 46447128 single base substitution A C intron_variant LINC-JP 11 46455173 46455173 single base substitution T C downstream_gene_variant LINC-JP 11 46455173 46455173 single base substitution T C missense_variant N824D 2470A>G LINC-JP 11 46455173 46455173 single base substitution T C missense_variant N853D 2557A>G LINC-JP 11 46455173 46455173 single base substitution T C missense_variant N883D 2647A>G LINC-JP 11 46455173 46455173 single base substitution T C missense_variant N914D 2740A>G LINC-JP 11 46455173 46455173 single base substitution T C missense_variant N943D 2827A>G LINC-JP 11 46471528 46471528 single base substitution G A intron_variant LINC-JP 11 46504273 46504273 single base substitution A G intron_variant LINC-JP 11 46505434 46505434 single base substitution T C intron_variant LINC-JP 11 46540306 46540306 insertion of <=200bp - A intron_variant LINC-JP 11 46543616 46543616 single base substitution C A intron_variant LINC-JP 11 46546344 46546344 single base substitution T G intron_variant LINC-JP 11 46560553 46560553 single base substitution T C intron_variant LINC-JP 11 46564488 46564488 single base substitution T C downstream_gene_variant LINC-JP 11 46564488 46564488 single base substitution T C missense_variant Q270R 809A>G LINC-JP 11 46564488 46564488 single base substitution T C missense_variant Q360R 1079A>G LINC-JP 11 46565633 46565633 single base substitution A T downstream_gene_variant LINC-JP 11 46565633 46565633 single base substitution A T intron_variant LINC-JP 11 46568722 46568722 single base substitution T G downstream_gene_variant LINC-JP 11 46568722 46568722 single base substitution T G exon_variant LINC-JP 11 46568722 46568722 single base substitution T G intron_variant LINC-JP 11 46568722 46568722 single base substitution T G missense_variant I107L 319A>C LINC-JP 11 46571059 46571059 single base substitution G A intron_variant LINC-JP 11 46571059 46571059 single base substitution G A upstream_gene_variant LINC-JP 11 46581401 46581401 single base substitution T C intron_variant LINC-JP 11 46594632 46594632 single base substitution C T intron_variant LINC-JP 11 46597024 46597024 single base substitution G C intron_variant LINC-JP 11 46604485 46604485 deletion of <=200bp A - intron_variant LINC-JP 11 46611973 46611973 single base substitution G C intron_variant LINC-JP 11 46612271 46612271 single base substitution T C intron_variant LIRI-JP 11 46417166 46417166 single base substitution T C downstream_gene_variant LIRI-JP 11 46417927 46417927 single base substitution C T downstream_gene_variant LIRI-JP 11 46418315 46418315 single base substitution C A 3_prime_UTR_variant LIRI-JP 11 46418315 46418315 single base substitution C A downstream_gene_variant LIRI-JP 11 46419385 46419385 single base substitution G T missense_variant T1052N 3155C>A LIRI-JP 11 46419385 46419385 single base substitution G T missense_variant T1081N 3242C>A LIRI-JP 11 46419385 46419385 single base substitution G T missense_variant T1111N 3332C>A LIRI-JP 11 46419385 46419385 single base substitution G T missense_variant T1142N 3425C>A LIRI-JP 11 46419385 46419385 single base substitution G T missense_variant T1171N 3512C>A LIRI-JP 11 46419385 46419385 single base substitution G T missense_variant T129N 386C>A LIRI-JP 11 46422073 46422073 single base substitution G A intron_variant LIRI-JP 11 46422763 46422763 single base substitution G T intron_variant LIRI-JP 11 46433167 46433167 single base substitution T C intron_variant LIRI-JP 11 46435636 46435636 single base substitution C T intron_variant LIRI-JP 11 46436438 46436438 single base substitution G A intron_variant LIRI-JP 11 46436967 46436967 single base substitution T C intron_variant LIRI-JP 11 46437627 46437627 single base substitution A C intron_variant LIRI-JP 11 46443226 46443226 single base substitution C T intron_variant LIRI-JP 11 46443226 46443226 single base substitution C T upstream_gene_variant LIRI-JP 11 46443493 46443493 single base substitution A T intron_variant LIRI-JP 11 46443493 46443493 single base substitution A T upstream_gene_variant LIRI-JP 11 46443959 46443959 single base substitution A T intron_variant LIRI-JP 11 46443959 46443959 single base substitution A T upstream_gene_variant LIRI-JP 11 46445522 46445522 single base substitution A G intron_variant LIRI-JP 11 46448806 46448806 single base substitution C A intron_variant LIRI-JP 11 46450038 46450038 single base substitution G C intron_variant LIRI-JP 11 46453468 46453468 single base substitution A C downstream_gene_variant LIRI-JP 11 46453468 46453468 single base substitution A C intron_variant LIRI-JP 11 46454840 46454840 single base substitution T C downstream_gene_variant LIRI-JP 11 46454840 46454840 single base substitution T C intron_variant LIRI-JP 11 46456392 46456392 single base substitution C T downstream_gene_variant LIRI-JP 11 46456392 46456392 single base substitution C T splice_region_variant LIRI-JP 11 46457315 46457315 single base substitution G A intron_variant LIRI-JP 11 46457940 46457940 single base substitution G A intron_variant LIRI-JP 11 46460482 46460482 single base substitution G C intron_variant LIRI-JP 11 46460558 46460558 single base substitution C A intron_variant LIRI-JP 11 46461513 46461513 single base substitution T C intron_variant LIRI-JP 11 46462305 46462305 single base substitution T C intron_variant LIRI-JP 11 46462892 46462892 single base substitution C A intron_variant LIRI-JP 11 46462946 46462946 single base substitution C G intron_variant LIRI-JP 11 46464859 46464859 single base substitution A T intron_variant LIRI-JP 11 46468474 46468474 single base substitution T A intron_variant LIRI-JP 11 46473063 46473063 single base substitution G A intron_variant LIRI-JP 11 46473384 46473384 single base substitution T G intron_variant LIRI-JP 11 46476576 46476576 single base substitution T C intron_variant LIRI-JP 11 46476878 46476878 single base substitution T A intron_variant LIRI-JP 11 46477051 46477051 single base substitution A G intron_variant LIRI-JP 11 46477266 46477266 single base substitution T C intron_variant LIRI-JP 11 46481924 46481924 single base substitution C T intron_variant LIRI-JP 11 46482061 46482061 single base substitution G C intron_variant LIRI-JP 11 46482669 46482669 single base substitution T G intron_variant LIRI-JP 11 46484347 46484347 single base substitution G A intron_variant LIRI-JP 11 46487395 46487395 single base substitution C T intron_variant LIRI-JP 11 46491707 46491707 single base substitution T C intron_variant LIRI-JP 11 46491972 46491972 single base substitution T C intron_variant LIRI-JP 11 46495391 46495391 single base substitution G A intron_variant LIRI-JP 11 46495708 46495708 single base substitution T C intron_variant LIRI-JP 11 46495818 46495818 single base substitution C T intron_variant LIRI-JP 11 46496437 46496437 single base substitution T C intron_variant LIRI-JP 11 46499513 46499513 single base substitution T C intron_variant LIRI-JP 11 46500035 46500035 single base substitution C T intron_variant LIRI-JP 11 46504233 46504233 single base substitution T C intron_variant LIRI-JP 11 46507599 46507599 single base substitution G A downstream_gene_variant LIRI-JP 11 46507599 46507599 single base substitution G A intron_variant LIRI-JP 11 46508742 46508742 single base substitution A C downstream_gene_variant LIRI-JP 11 46508742 46508742 single base substitution A C intron_variant LIRI-JP 11 46512810 46512810 single base substitution G A exon_variant LIRI-JP 11 46512810 46512810 single base substitution G A intron_variant LIRI-JP 11 46513098 46513098 single base substitution T C intron_variant LIRI-JP 11 46515164 46515164 single base substitution G A exon_variant LIRI-JP 11 46515164 46515164 single base substitution G A synonymous_variant L720L 2158C>T LIRI-JP 11 46515164 46515164 single base substitution G A synonymous_variant L749L 2245C>T LIRI-JP 11 46515164 46515164 single base substitution G A synonymous_variant L779L 2335C>T LIRI-JP 11 46515164 46515164 single base substitution G A synonymous_variant L810L 2428C>T LIRI-JP 11 46515164 46515164 single base substitution G A synonymous_variant L839L 2515C>T LIRI-JP 11 46516887 46516887 single base substitution C T exon_variant LIRI-JP 11 46516887 46516887 single base substitution C T intron_variant LIRI-JP 11 46516887 46516887 single base substitution C T upstream_gene_variant LIRI-JP 11 46518399 46518399 single base substitution T C intron_variant LIRI-JP 11 46518399 46518399 single base substitution T C upstream_gene_variant LIRI-JP 11 46520411 46520411 single base substitution G T intron_variant LIRI-JP 11 46520411 46520411 single base substitution G T upstream_gene_variant LIRI-JP 11 46520909 46520909 single base substitution T C intron_variant LIRI-JP 11 46520909 46520909 single base substitution T C upstream_gene_variant LIRI-JP 11 46521212 46521212 single base substitution T G downstream_gene_variant LIRI-JP 11 46521212 46521212 single base substitution T G intron_variant LIRI-JP 11 46521212 46521212 single base substitution T G upstream_gene_variant LIRI-JP 11 46521221 46521221 single base substitution T C downstream_gene_variant LIRI-JP 11 46521221 46521221 single base substitution T C intron_variant LIRI-JP 11 46521221 46521221 single base substitution T C upstream_gene_variant LIRI-JP 11 46522308 46522308 single base substitution T C downstream_gene_variant LIRI-JP 11 46522308 46522308 single base substitution T C intron_variant LIRI-JP 11 46522404 46522404 single base substitution C T downstream_gene_variant LIRI-JP 11 46522404 46522404 single base substitution C T intron_variant LIRI-JP 11 46523089 46523089 single base substitution C G downstream_gene_variant LIRI-JP 11 46523089 46523089 single base substitution C G intron_variant LIRI-JP 11 46524336 46524336 single base substitution T C downstream_gene_variant LIRI-JP 11 46524336 46524336 single base substitution T C intron_variant LIRI-JP 11 46528225 46528228 deletion of <=200bp AAGA - intron_variant LIRI-JP 11 46528387 46528387 single base substitution C T intron_variant LIRI-JP 11 46530618 46530618 single base substitution G A intron_variant LIRI-JP 11 46533131 46533131 single base substitution T C intron_variant LIRI-JP 11 46535083 46535083 single base substitution G T intron_variant LIRI-JP 11 46535300 46535300 single base substitution T G intron_variant LIRI-JP 11 46536513 46536513 single base substitution T C intron_variant LIRI-JP 11 46537515 46537515 single base substitution T A intron_variant LIRI-JP 11 46537538 46537538 single base substitution T C intron_variant LIRI-JP 11 46537687 46537687 single base substitution C T intron_variant LIRI-JP 11 46538346 46538346 single base substitution A C intron_variant LIRI-JP 11 46540363 46540363 single base substitution T A intron_variant LIRI-JP 11 46544582 46544582 single base substitution G C intron_variant LIRI-JP 11 46544616 46544616 single base substitution C A intron_variant LIRI-JP 11 46547854 46547854 single base substitution C T intron_variant LIRI-JP 11 46550684 46550684 single base substitution C G intron_variant LIRI-JP 11 46550870 46550872 deletion of <=200bp GAG - intron_variant LIRI-JP 11 46551350 46551350 single base substitution G A intron_variant LIRI-JP 11 46555239 46555239 single base substitution T A intron_variant LIRI-JP 11 46555239 46555239 single base substitution T A upstream_gene_variant LIRI-JP 11 46555266 46555266 single base substitution C T intron_variant LIRI-JP 11 46555266 46555266 single base substitution C T upstream_gene_variant LIRI-JP 11 46555948 46555948 single base substitution G C intron_variant LIRI-JP 11 46555948 46555948 single base substitution G C upstream_gene_variant LIRI-JP 11 46556055 46556055 single base substitution T C intron_variant LIRI-JP 11 46556055 46556055 single base substitution T C upstream_gene_variant LIRI-JP 11 46556689 46556689 single base substitution A G intron_variant LIRI-JP 11 46556689 46556689 single base substitution A G upstream_gene_variant LIRI-JP 11 46557838 46557838 single base substitution C T intron_variant LIRI-JP 11 46558239 46558239 single base substitution C A intron_variant LIRI-JP 11 46558755 46558755 single base substitution T C intron_variant LIRI-JP 11 46558944 46558944 single base substitution T C intron_variant LIRI-JP 11 46559073 46559073 single base substitution G T intron_variant LIRI-JP 11 46559544 46559546 deletion of <=200bp AGC - intron_variant LIRI-JP 11 46560179 46560179 single base substitution G A intron_variant LIRI-JP 11 46561374 46561374 single base substitution G A intron_variant LIRI-JP 11 46561525 46561525 single base substitution G A intron_variant LIRI-JP 11 46563828 46563828 single base substitution T A downstream_gene_variant LIRI-JP 11 46563828 46563828 single base substitution T A missense_variant D490V 1469A>T LIRI-JP 11 46563828 46563828 single base substitution T A missense_variant D580V 1739A>T LIRI-JP 11 46565030 46565030 single base substitution A G downstream_gene_variant LIRI-JP 11 46565030 46565030 single base substitution A G intron_variant LIRI-JP 11 46565298 46565298 single base substitution T C downstream_gene_variant LIRI-JP 11 46565298 46565298 single base substitution T C intron_variant LIRI-JP 11 46565885 46565885 single base substitution T C downstream_gene_variant LIRI-JP 11 46565885 46565885 single base substitution T C intron_variant LIRI-JP 11 46568564 46568564 single base substitution C G downstream_gene_variant LIRI-JP 11 46568564 46568564 single base substitution C G intron_variant LIRI-JP 11 46570306 46570306 single base substitution G A intron_variant LIRI-JP 11 46570306 46570306 single base substitution G A upstream_gene_variant LIRI-JP 11 46570307 46570307 single base substitution C A intron_variant LIRI-JP 11 46570307 46570307 single base substitution C A upstream_gene_variant LIRI-JP 11 46570745 46570745 single base substitution A G intron_variant LIRI-JP 11 46570745 46570745 single base substitution A G upstream_gene_variant LIRI-JP 11 46572682 46572682 single base substitution T C intron_variant LIRI-JP 11 46572682 46572682 single base substitution T C upstream_gene_variant LIRI-JP 11 46578999 46578999 single base substitution C A intron_variant LIRI-JP 11 46579001 46579001 single base substitution A T intron_variant LIRI-JP 11 46582892 46582892 single base substitution T C intron_variant LIRI-JP 11 46583489 46583489 single base substitution C A intron_variant LIRI-JP 11 46584151 46584151 single base substitution G A intron_variant LIRI-JP 11 46587851 46587851 single base substitution C T intron_variant LIRI-JP 11 46590741 46590741 single base substitution A C intron_variant LIRI-JP 11 46591465 46591465 single base substitution C T intron_variant LIRI-JP 11 46596841 46596841 single base substitution C T intron_variant LIRI-JP 11 46599100 46599100 single base substitution T C intron_variant LIRI-JP 11 46601239 46601239 single base substitution C T intron_variant LIRI-JP 11 46603582 46603582 single base substitution T C intron_variant LIRI-JP 11 46610022 46610022 single base substitution A G intron_variant LIRI-JP 11 46613392 46613392 single base substitution G A intron_variant LIRI-JP 11 46613392 46613392 single base substitution G A upstream_gene_variant LIRI-JP 11 46614076 46614076 single base substitution C T intron_variant LIRI-JP 11 46614076 46614076 single base substitution C T upstream_gene_variant LIRI-JP 11 46614613 46614613 single base substitution T C intron_variant LIRI-JP 11 46614613 46614613 single base substitution T C upstream_gene_variant LIRI-JP 11 46616243 46616243 single base substitution T G upstream_gene_variant LIRI-JP 11 46618250 46618250 single base substitution C G upstream_gene_variant LIRI-JP 11 46618757 46618757 single base substitution G A upstream_gene_variant LIRI-JP 11 46620130 46620130 single base substitution C G upstream_gene_variant LIRI-JP 11 46620432 46620432 single base substitution T C upstream_gene_variant LUSC-KR 11 46416554 46416554 single base substitution C A downstream_gene_variant LUSC-KR 11 46421434 46421434 single base substitution C A intron_variant LUSC-KR 11 46422210 46422210 single base substitution T G intron_variant LUSC-KR 11 46422710 46422710 single base substitution C T intron_variant LUSC-KR 11 46435413 46435413 single base substitution G A intron_variant LUSC-KR 11 46444524 46444524 single base substitution G A intron_variant LUSC-KR 11 46444524 46444524 single base substitution G A upstream_gene_variant LUSC-KR 11 46453843 46453843 single base substitution C G downstream_gene_variant LUSC-KR 11 46453843 46453843 single base substitution C G intron_variant LUSC-KR 11 46455146 46455146 single base substitution T C downstream_gene_variant LUSC-KR 11 46455146 46455146 single base substitution T C missense_variant M833V 2497A>G LUSC-KR 11 46455146 46455146 single base substitution T C missense_variant M862V 2584A>G LUSC-KR 11 46455146 46455146 single base substitution T C missense_variant M892V 2674A>G LUSC-KR 11 46455146 46455146 single base substitution T C missense_variant M923V 2767A>G LUSC-KR 11 46455146 46455146 single base substitution T C missense_variant M952V 2854A>G LUSC-KR 11 46456491 46456491 single base substitution C A exon_variant LUSC-KR 11 46456491 46456491 single base substitution C A missense_variant S791I 2372G>T LUSC-KR 11 46456491 46456491 single base substitution C A missense_variant S820I 2459G>T LUSC-KR 11 46456491 46456491 single base substitution C A missense_variant S850I 2549G>T LUSC-KR 11 46456491 46456491 single base substitution C A missense_variant S881I 2642G>T LUSC-KR 11 46456491 46456491 single base substitution C A missense_variant S910I 2729G>T LUSC-KR 11 46460362 46460362 single base substitution C T intron_variant LUSC-KR 11 46460764 46460764 single base substitution T C intron_variant LUSC-KR 11 46464552 46464552 single base substitution G A intron_variant LUSC-KR 11 46466928 46466928 single base substitution C T intron_variant LUSC-KR 11 46467208 46467208 single base substitution C G intron_variant LUSC-KR 11 46471333 46471333 single base substitution G A intron_variant LUSC-KR 11 46473889 46473889 single base substitution G T intron_variant LUSC-KR 11 46476273 46476273 single base substitution C G intron_variant LUSC-KR 11 46480735 46480735 single base substitution C A intron_variant LUSC-KR 11 46484051 46484051 single base substitution G C intron_variant LUSC-KR 11 46486503 46486503 single base substitution G A intron_variant LUSC-KR 11 46486507 46486507 single base substitution A T intron_variant LUSC-KR 11 46492762 46492762 single base substitution C A intron_variant LUSC-KR 11 46498952 46498952 single base substitution C T intron_variant LUSC-KR 11 46504007 46504007 single base substitution G A intron_variant LUSC-KR 11 46504586 46504586 single base substitution T A intron_variant LUSC-KR 11 46518296 46518296 single base substitution T A intron_variant LUSC-KR 11 46518296 46518296 single base substitution T A upstream_gene_variant LUSC-KR 11 46519753 46519753 single base substitution C T intron_variant LUSC-KR 11 46519753 46519753 single base substitution C T upstream_gene_variant LUSC-KR 11 46524861 46524861 single base substitution C A downstream_gene_variant LUSC-KR 11 46524861 46524861 single base substitution C A intron_variant LUSC-KR 11 46533764 46533764 single base substitution T C intron_variant LUSC-KR 11 46539481 46539481 single base substitution T G intron_variant LUSC-KR 11 46541016 46541016 single base substitution C G intron_variant LUSC-KR 11 46541505 46541505 single base substitution C A intron_variant LUSC-KR 11 46547662 46547662 single base substitution G C intron_variant LUSC-KR 11 46550620 46550620 single base substitution C T intron_variant LUSC-KR 11 46557184 46557184 single base substitution G A intron_variant LUSC-KR 11 46562546 46562546 single base substitution C T downstream_gene_variant LUSC-KR 11 46562546 46562546 single base substitution C T intron_variant LUSC-KR 11 46566728 46566728 single base substitution T G downstream_gene_variant LUSC-KR 11 46566728 46566728 single base substitution T G intron_variant LUSC-KR 11 46567604 46567604 single base substitution G T downstream_gene_variant LUSC-KR 11 46567604 46567604 single base substitution G T intron_variant LUSC-KR 11 46568545 46568545 single base substitution T A downstream_gene_variant LUSC-KR 11 46568545 46568545 single base substitution T A intron_variant LUSC-KR 11 46572507 46572507 single base substitution C T intron_variant LUSC-KR 11 46572507 46572507 single base substitution C T upstream_gene_variant LUSC-KR 11 46573002 46573002 single base substitution T C intron_variant LUSC-KR 11 46573002 46573002 single base substitution T C upstream_gene_variant LUSC-KR 11 46581531 46581531 single base substitution G A intron_variant LUSC-KR 11 46587506 46587506 single base substitution G A intron_variant LUSC-KR 11 46592936 46592936 single base substitution G A intron_variant LUSC-KR 11 46593909 46593909 single base substitution G A intron_variant LUSC-KR 11 46612800 46612800 single base substitution T A 5_prime_UTR_variant LUSC-KR 11 46612800 46612800 single base substitution T A intron_variant LUSC-KR 11 46615474 46615474 single base substitution C T 5_prime_UTR_variant LUSC-KR 11 46615474 46615474 single base substitution C T exon_variant LUSC-KR 11 46615474 46615474 single base substitution C T upstream_gene_variant LUSC-KR 11 46617303 46617303 single base substitution G A upstream_gene_variant LUSC-KR 11 46617338 46617338 single base substitution C T upstream_gene_variant LUSC-KR 11 46617684 46617684 single base substitution C T upstream_gene_variant LUSC-KR 11 46617826 46617826 single base substitution T C upstream_gene_variant LUSC-US 11 46419148 46419148 single base substitution G T missense_variant S1131Y 3392C>A LUSC-US 11 46419148 46419148 single base substitution G T missense_variant S1160Y 3479C>A LUSC-US 11 46419148 46419148 single base substitution G T missense_variant S1190Y 3569C>A LUSC-US 11 46419148 46419148 single base substitution G T missense_variant S1221Y 3662C>A LUSC-US 11 46419148 46419148 single base substitution G T missense_variant S1250Y 3749C>A LUSC-US 11 46419148 46419148 single base substitution G T missense_variant S208Y 623C>A LUSC-US 11 46431886 46431886 single base substitution T C intron_variant LUSC-US 11 46431886 46431886 single base substitution T C missense_variant D1021G 3062A>G LUSC-US 11 46431886 46431886 single base substitution T C missense_variant D1050G 3149A>G LUSC-US 11 46431886 46431886 single base substitution T C missense_variant D931G 2792A>G LUSC-US 11 46431886 46431886 single base substitution T C missense_variant D960G 2879A>G LUSC-US 11 46431886 46431886 single base substitution T C missense_variant D990G 2969A>G MALY-DE 11 46418850 46418850 single base substitution C A 3_prime_UTR_variant MALY-DE 11 46418850 46418850 single base substitution C A downstream_gene_variant MALY-DE 11 46419567 46419567 single base substitution G A intron_variant MALY-DE 11 46429345 46429345 single base substitution G C intron_variant MALY-DE 11 46430572 46430572 single base substitution G C intron_variant MALY-DE 11 46439142 46439142 single base substitution T G intron_variant MALY-DE 11 46450408 46450408 single base substitution C T intron_variant MALY-DE 11 46463705 46463705 single base substitution T G intron_variant MALY-DE 11 46473727 46473727 single base substitution A T intron_variant MALY-DE 11 46473769 46473769 single base substitution A G intron_variant MALY-DE 11 46479129 46479129 single base substitution T A intron_variant MALY-DE 11 46488278 46488278 single base substitution C A intron_variant MALY-DE 11 46499620 46499620 single base substitution T C intron_variant MALY-DE 11 46500430 46500430 single base substitution C A intron_variant MALY-DE 11 46502514 46502514 single base substitution C T intron_variant MALY-DE 11 46532536 46532536 insertion of <=200bp - A intron_variant MALY-DE 11 46548285 46548285 insertion of <=200bp - A intron_variant MALY-DE 11 46554817 46554817 single base substitution A G intron_variant MALY-DE 11 46554817 46554817 single base substitution A G upstream_gene_variant MALY-DE 11 46565148 46565148 single base substitution A C downstream_gene_variant MALY-DE 11 46565148 46565148 single base substitution A C intron_variant MALY-DE 11 46567287 46567287 single base substitution T A downstream_gene_variant MALY-DE 11 46567287 46567287 single base substitution T A exon_variant MALY-DE 11 46567287 46567287 single base substitution T A missense_variant I140F 418A>T MALY-DE 11 46583822 46583822 deletion of <=200bp A - intron_variant MALY-DE 11 46585804 46585804 single base substitution A C intron_variant MALY-DE 11 46586808 46586808 deletion of <=200bp A - intron_variant MALY-DE 11 46587035 46587035 single base substitution T C intron_variant MALY-DE 11 46615436 46615436 single base substitution A G 5_prime_UTR_variant MALY-DE 11 46615436 46615436 single base substitution A G exon_variant MALY-DE 11 46615436 46615436 single base substitution A G upstream_gene_variant MALY-DE 11 46616997 46616997 single base substitution G A upstream_gene_variant MELA-AU 11 46413108 46413108 single base substitution G A downstream_gene_variant MELA-AU 11 46413581 46413581 single base substitution G A downstream_gene_variant MELA-AU 11 46415105 46415105 single base substitution G A downstream_gene_variant MELA-AU 11 46415273 46415273 single base substitution G A downstream_gene_variant MELA-AU 11 46415381 46415381 single base substitution G A downstream_gene_variant MELA-AU 11 46415405 46415405 single base substitution A T downstream_gene_variant MELA-AU 11 46415507 46415507 single base substitution G A downstream_gene_variant MELA-AU 11 46415725 46415725 single base substitution G A downstream_gene_variant MELA-AU 11 46416258 46416258 single base substitution T A downstream_gene_variant MELA-AU 11 46416283 46416283 single base substitution G A downstream_gene_variant MELA-AU 11 46416448 46416448 single base substitution G A downstream_gene_variant MELA-AU 11 46416475 46416475 single base substitution A G downstream_gene_variant MELA-AU 11 46417094 46417094 single base substitution G A downstream_gene_variant MELA-AU 11 46417132 46417132 single base substitution A G downstream_gene_variant MELA-AU 11 46417475 46417475 single base substitution G A downstream_gene_variant MELA-AU 11 46417599 46417599 single base substitution G A downstream_gene_variant MELA-AU 11 46417669 46417669 single base substitution A T downstream_gene_variant MELA-AU 11 46417717 46417717 single base substitution G A downstream_gene_variant MELA-AU 11 46417770 46417771 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 11 46418790 46418790 single base substitution G A 3_prime_UTR_variant MELA-AU 11 46418790 46418790 single base substitution G A downstream_gene_variant MELA-AU 11 46418975 46418975 single base substitution G A 3_prime_UTR_variant MELA-AU 11 46418975 46418975 single base substitution G A downstream_gene_variant MELA-AU 11 46419294 46419294 single base substitution G A synonymous_variant A1082A 3246C>T MELA-AU 11 46419294 46419294 single base substitution G A synonymous_variant A1111A 3333C>T MELA-AU 11 46419294 46419294 single base substitution G A synonymous_variant A1141A 3423C>T MELA-AU 11 46419294 46419294 single base substitution G A synonymous_variant A1172A 3516C>T MELA-AU 11 46419294 46419294 single base substitution G A synonymous_variant A1201A 3603C>T MELA-AU 11 46419294 46419294 single base substitution G A synonymous_variant A159A 477C>T MELA-AU 11 46420295 46420295 single base substitution G A intron_variant MELA-AU 11 46420822 46420822 single base substitution C G intron_variant MELA-AU 11 46420987 46420987 single base substitution G A intron_variant MELA-AU 11 46421687 46421687 single base substitution G A intron_variant MELA-AU 11 46421732 46421732 single base substitution G A intron_variant MELA-AU 11 46422452 46422452 single base substitution G A intron_variant MELA-AU 11 46423281 46423281 single base substitution G T intron_variant MELA-AU 11 46423935 46423935 single base substitution G A intron_variant MELA-AU 11 46424350 46424351 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 11 46424635 46424635 single base substitution G A intron_variant MELA-AU 11 46424787 46424787 single base substitution G A intron_variant MELA-AU 11 46424835 46424835 single base substitution G A intron_variant MELA-AU 11 46425131 46425131 single base substitution G A intron_variant MELA-AU 11 46425132 46425132 single base substitution G A intron_variant MELA-AU 11 46426157 46426157 single base substitution G A intron_variant MELA-AU 11 46426321 46426321 single base substitution G A intron_variant MELA-AU 11 46426371 46426371 single base substitution G A intron_variant MELA-AU 11 46426691 46426691 single base substitution G A intron_variant MELA-AU 11 46426897 46426897 single base substitution G A intron_variant MELA-AU 11 46427251 46427251 single base substitution G A intron_variant MELA-AU 11 46427583 46427583 single base substitution G A intron_variant MELA-AU 11 46428019 46428019 single base substitution G A intron_variant MELA-AU 11 46428054 46428055 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 46428290 46428290 single base substitution G A intron_variant MELA-AU 11 46428490 46428490 single base substitution G A intron_variant MELA-AU 11 46428962 46428962 single base substitution G A intron_variant MELA-AU 11 46429012 46429012 single base substitution G A intron_variant MELA-AU 11 46429773 46429773 single base substitution G A intron_variant MELA-AU 11 46430023 46430023 single base substitution G A intron_variant MELA-AU 11 46430454 46430454 single base substitution C T intron_variant MELA-AU 11 46431606 46431606 single base substitution G A intron_variant MELA-AU 11 46431726 46431726 single base substitution G A intron_variant MELA-AU 11 46431894 46431894 single base substitution G A intron_variant MELA-AU 11 46431894 46431894 single base substitution G A synonymous_variant Y1018Y 3054C>T MELA-AU 11 46431894 46431894 single base substitution G A synonymous_variant Y1047Y 3141C>T MELA-AU 11 46431894 46431894 single base substitution G A synonymous_variant Y928Y 2784C>T MELA-AU 11 46431894 46431894 single base substitution G A synonymous_variant Y957Y 2871C>T MELA-AU 11 46431894 46431894 single base substitution G A synonymous_variant Y987Y 2961C>T MELA-AU 11 46432071 46432071 single base substitution C T intron_variant MELA-AU 11 46432074 46432074 single base substitution C T intron_variant MELA-AU 11 46432411 46432411 single base substitution G A intron_variant MELA-AU 11 46432545 46432546 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 46433414 46433414 single base substitution G A intron_variant MELA-AU 11 46433441 46433441 single base substitution G A intron_variant MELA-AU 11 46433446 46433446 single base substitution G A intron_variant MELA-AU 11 46435510 46435510 single base substitution G A intron_variant MELA-AU 11 46435523 46435524 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 46435578 46435578 single base substitution G T intron_variant MELA-AU 11 46435670 46435670 single base substitution G A intron_variant MELA-AU 11 46436606 46436607 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 46436986 46436986 single base substitution G A intron_variant MELA-AU 11 46437568 46437568 single base substitution G A intron_variant MELA-AU 11 46437638 46437638 single base substitution G A intron_variant MELA-AU 11 46437775 46437775 single base substitution G A intron_variant MELA-AU 11 46437834 46437834 single base substitution G A intron_variant MELA-AU 11 46438111 46438111 single base substitution G A intron_variant MELA-AU 11 46438529 46438529 single base substitution G A intron_variant MELA-AU 11 46438835 46438835 single base substitution C T intron_variant MELA-AU 11 46439307 46439307 single base substitution C T intron_variant MELA-AU 11 46439677 46439677 single base substitution G A intron_variant MELA-AU 11 46439677 46439677 single base substitution G A upstream_gene_variant MELA-AU 11 46439875 46439875 single base substitution T A intron_variant MELA-AU 11 46439875 46439875 single base substitution T A upstream_gene_variant MELA-AU 11 46440314 46440314 single base substitution G A intron_variant MELA-AU 11 46440314 46440314 single base substitution G A upstream_gene_variant MELA-AU 11 46441777 46441777 single base substitution G A intron_variant MELA-AU 11 46441777 46441777 single base substitution G A upstream_gene_variant MELA-AU 11 46442112 46442112 single base substitution A G intron_variant MELA-AU 11 46442112 46442112 single base substitution A G upstream_gene_variant MELA-AU 11 46442167 46442167 single base substitution G A intron_variant MELA-AU 11 46442167 46442167 single base substitution G A upstream_gene_variant MELA-AU 11 46442230 46442230 single base substitution C G intron_variant MELA-AU 11 46442230 46442230 single base substitution C G upstream_gene_variant MELA-AU 11 46442295 46442295 single base substitution G A intron_variant MELA-AU 11 46442295 46442295 single base substitution G A upstream_gene_variant MELA-AU 11 46444048 46444048 single base substitution G A intron_variant MELA-AU 11 46444048 46444048 single base substitution G A upstream_gene_variant MELA-AU 11 46444194 46444194 single base substitution G A intron_variant MELA-AU 11 46444194 46444194 single base substitution G A upstream_gene_variant MELA-AU 11 46445288 46445288 single base substitution A G intron_variant MELA-AU 11 46445430 46445430 single base substitution C T intron_variant MELA-AU 11 46445668 46445668 single base substitution G A intron_variant MELA-AU 11 46445711 46445712 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 46446102 46446102 single base substitution C T intron_variant MELA-AU 11 46446151 46446151 single base substitution C T intron_variant MELA-AU 11 46446163 46446163 single base substitution G A intron_variant MELA-AU 11 46446531 46446531 deletion of <=200bp A - intron_variant MELA-AU 11 46446535 46446535 single base substitution A T intron_variant MELA-AU 11 46446856 46446856 single base substitution C T intron_variant MELA-AU 11 46446904 46446904 single base substitution G A intron_variant MELA-AU 11 46447205 46447205 single base substitution C T intron_variant MELA-AU 11 46447681 46447681 single base substitution G A intron_variant MELA-AU 11 46447949 46447949 single base substitution C T intron_variant MELA-AU 11 46447986 46447986 single base substitution G A intron_variant MELA-AU 11 46448144 46448144 deletion of <=200bp A - intron_variant MELA-AU 11 46448205 46448205 single base substitution C T intron_variant MELA-AU 11 46449271 46449271 single base substitution G A intron_variant MELA-AU 11 46449281 46449281 single base substitution G A intron_variant MELA-AU 11 46449542 46449542 single base substitution G A intron_variant MELA-AU 11 46450490 46450490 single base substitution G A intron_variant MELA-AU 11 46450839 46450839 single base substitution G A intron_variant MELA-AU 11 46451187 46451187 single base substitution G A intron_variant MELA-AU 11 46451633 46451633 single base substitution G A downstream_gene_variant MELA-AU 11 46451633 46451633 single base substitution G A intron_variant MELA-AU 11 46451723 46451723 single base substitution G A downstream_gene_variant MELA-AU 11 46451723 46451723 single base substitution G A intron_variant MELA-AU 11 46452015 46452015 single base substitution G A downstream_gene_variant MELA-AU 11 46452015 46452015 single base substitution G A intron_variant MELA-AU 11 46453216 46453216 single base substitution C G downstream_gene_variant MELA-AU 11 46453216 46453216 single base substitution C G intron_variant MELA-AU 11 46453431 46453431 single base substitution G A downstream_gene_variant MELA-AU 11 46453431 46453431 single base substitution G A intron_variant MELA-AU 11 46454143 46454143 single base substitution A G downstream_gene_variant MELA-AU 11 46454143 46454143 single base substitution A G intron_variant MELA-AU 11 46454199 46454199 single base substitution G A downstream_gene_variant MELA-AU 11 46454199 46454199 single base substitution G A intron_variant MELA-AU 11 46454757 46454757 single base substitution G A downstream_gene_variant MELA-AU 11 46454757 46454757 single base substitution G A intron_variant MELA-AU 11 46455557 46455557 single base substitution C T downstream_gene_variant MELA-AU 11 46455557 46455557 single base substitution C T intron_variant MELA-AU 11 46455969 46455969 single base substitution A G downstream_gene_variant MELA-AU 11 46455969 46455969 single base substitution A G intron_variant MELA-AU 11 46456014 46456032 deletion of <=200bp TGCTGTGAACACCCTTGTA - downstream_gene_variant MELA-AU 11 46456014 46456032 deletion of <=200bp TGCTGTGAACACCCTTGTA - intron_variant MELA-AU 11 46456381 46456382 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 46456381 46456382 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 46456474 46456474 single base substitution G A exon_variant MELA-AU 11 46456474 46456474 single base substitution G A missense_variant P797S 2389C>T MELA-AU 11 46456474 46456474 single base substitution G A missense_variant P826S 2476C>T MELA-AU 11 46456474 46456474 single base substitution G A missense_variant P856S 2566C>T MELA-AU 11 46456474 46456474 single base substitution G A missense_variant P887S 2659C>T MELA-AU 11 46456474 46456474 single base substitution G A missense_variant P916S 2746C>T MELA-AU 11 46457015 46457015 single base substitution G A intron_variant MELA-AU 11 46457651 46457651 single base substitution G A intron_variant MELA-AU 11 46458737 46458737 single base substitution G A intron_variant MELA-AU 11 46459252 46459252 single base substitution A T intron_variant MELA-AU 11 46459728 46459728 single base substitution G A intron_variant MELA-AU 11 46459800 46459800 single base substitution G A intron_variant MELA-AU 11 46460994 46460994 single base substitution G A intron_variant MELA-AU 11 46461178 46461178 single base substitution G A intron_variant MELA-AU 11 46461982 46461982 single base substitution G A intron_variant MELA-AU 11 46462219 46462219 single base substitution G A intron_variant MELA-AU 11 46462482 46462482 single base substitution G A intron_variant MELA-AU 11 46462651 46462651 single base substitution G A intron_variant MELA-AU 11 46463099 46463099 single base substitution G A intron_variant MELA-AU 11 46464540 46464540 single base substitution G A intron_variant MELA-AU 11 46464856 46464856 single base substitution G A intron_variant MELA-AU 11 46464885 46464885 single base substitution G A intron_variant MELA-AU 11 46464968 46464968 single base substitution G A intron_variant MELA-AU 11 46465037 46465038 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A759T 2275G>A MELA-AU 11 46465037 46465038 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A788T 2362G>A MELA-AU 11 46465037 46465038 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A818T 2452G>A MELA-AU 11 46465037 46465038 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A849T 2545G>A MELA-AU 11 46465037 46465038 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A878T 2632G>A MELA-AU 11 46465037 46465038 multiple base substitution (>=2bp and <=200bp) CC TT splice_donor_variant MELA-AU 11 46465226 46465226 single base substitution G A intron_variant MELA-AU 11 46465651 46465651 single base substitution G A intron_variant MELA-AU 11 46466290 46466290 single base substitution G A intron_variant MELA-AU 11 46466564 46466564 single base substitution G A intron_variant MELA-AU 11 46467028 46467028 single base substitution C T intron_variant MELA-AU 11 46467247 46467247 single base substitution G A intron_variant MELA-AU 11 46468750 46468750 single base substitution G A intron_variant MELA-AU 11 46470026 46470026 single base substitution G A intron_variant MELA-AU 11 46471042 46471042 single base substitution G A intron_variant MELA-AU 11 46471146 46471146 single base substitution C T intron_variant MELA-AU 11 46471378 46471378 single base substitution A G intron_variant MELA-AU 11 46471965 46471965 single base substitution G A intron_variant MELA-AU 11 46471973 46471973 single base substitution G A intron_variant MELA-AU 11 46473431 46473431 single base substitution G A intron_variant MELA-AU 11 46473567 46473567 single base substitution G A intron_variant MELA-AU 11 46474186 46474186 single base substitution C T intron_variant MELA-AU 11 46474650 46474650 single base substitution C T intron_variant MELA-AU 11 46475400 46475400 single base substitution G A intron_variant MELA-AU 11 46475478 46475478 single base substitution G A intron_variant MELA-AU 11 46475562 46475562 single base substitution G A intron_variant MELA-AU 11 46475735 46475735 single base substitution G A intron_variant MELA-AU 11 46475773 46475773 single base substitution C T intron_variant MELA-AU 11 46476082 46476082 single base substitution G A intron_variant MELA-AU 11 46476295 46476295 single base substitution C T intron_variant MELA-AU 11 46477088 46477088 single base substitution G A intron_variant MELA-AU 11 46477102 46477102 single base substitution G A intron_variant MELA-AU 11 46477344 46477344 single base substitution G A intron_variant MELA-AU 11 46477772 46477772 single base substitution A G intron_variant MELA-AU 11 46477820 46477821 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 46477891 46477891 single base substitution C T intron_variant MELA-AU 11 46478090 46478090 single base substitution G A intron_variant MELA-AU 11 46478969 46478969 single base substitution G A intron_variant MELA-AU 11 46479055 46479055 single base substitution A T intron_variant MELA-AU 11 46479085 46479085 single base substitution G A intron_variant MELA-AU 11 46479133 46479133 single base substitution G A intron_variant MELA-AU 11 46479223 46479223 single base substitution G A intron_variant MELA-AU 11 46479526 46479526 single base substitution G A intron_variant MELA-AU 11 46479990 46479990 single base substitution C T intron_variant MELA-AU 11 46480357 46480357 single base substitution A C intron_variant MELA-AU 11 46480468 46480468 single base substitution G A intron_variant MELA-AU 11 46481475 46481475 single base substitution G A intron_variant MELA-AU 11 46481720 46481720 single base substitution G A intron_variant MELA-AU 11 46481960 46481960 single base substitution C T intron_variant MELA-AU 11 46482127 46482128 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 46483184 46483184 single base substitution G A intron_variant MELA-AU 11 46484572 46484572 single base substitution G A intron_variant MELA-AU 11 46485175 46485175 single base substitution G A intron_variant MELA-AU 11 46485519 46485519 single base substitution C T intron_variant MELA-AU 11 46486639 46486639 single base substitution T C intron_variant MELA-AU 11 46486953 46486953 single base substitution A G intron_variant MELA-AU 11 46487263 46487263 single base substitution G A intron_variant MELA-AU 11 46487293 46487293 single base substitution C T intron_variant MELA-AU 11 46487548 46487548 single base substitution G A intron_variant MELA-AU 11 46487818 46487818 single base substitution A G intron_variant MELA-AU 11 46488025 46488025 single base substitution A G intron_variant MELA-AU 11 46488562 46488562 single base substitution G A intron_variant MELA-AU 11 46489268 46489268 single base substitution G A intron_variant MELA-AU 11 46489398 46489398 single base substitution G T intron_variant MELA-AU 11 46489501 46489501 single base substitution G A intron_variant MELA-AU 11 46489881 46489881 single base substitution G A intron_variant MELA-AU 11 46490134 46490134 single base substitution G A intron_variant MELA-AU 11 46490341 46490341 single base substitution G A intron_variant MELA-AU 11 46490485 46490485 single base substitution G A intron_variant MELA-AU 11 46490681 46490681 single base substitution G A intron_variant MELA-AU 11 46490912 46490912 single base substitution G A intron_variant MELA-AU 11 46491505 46491505 single base substitution G A intron_variant MELA-AU 11 46491948 46491948 single base substitution G A intron_variant MELA-AU 11 46492361 46492361 single base substitution G A intron_variant MELA-AU 11 46492429 46492429 single base substitution A G intron_variant MELA-AU 11 46492571 46492571 single base substitution G A intron_variant MELA-AU 11 46492696 46492696 single base substitution G A intron_variant MELA-AU 11 46492783 46492783 single base substitution G A intron_variant MELA-AU 11 46493021 46493021 single base substitution G A intron_variant MELA-AU 11 46494342 46494342 single base substitution G A intron_variant MELA-AU 11 46495183 46495183 single base substitution G A intron_variant MELA-AU 11 46495484 46495484 single base substitution G A intron_variant MELA-AU 11 46495706 46495706 single base substitution G A intron_variant MELA-AU 11 46495712 46495712 single base substitution G A intron_variant MELA-AU 11 46495826 46495826 single base substitution G A intron_variant MELA-AU 11 46495987 46495987 single base substitution G A intron_variant MELA-AU 11 46496064 46496064 single base substitution G A intron_variant MELA-AU 11 46497596 46497596 single base substitution G A intron_variant MELA-AU 11 46498820 46498820 single base substitution G A intron_variant MELA-AU 11 46499368 46499368 single base substitution G A intron_variant MELA-AU 11 46499544 46499544 single base substitution T C intron_variant MELA-AU 11 46501033 46501033 single base substitution G A intron_variant MELA-AU 11 46501234 46501234 single base substitution G A intron_variant MELA-AU 11 46502330 46502330 single base substitution G A intron_variant MELA-AU 11 46502881 46502881 single base substitution G A intron_variant MELA-AU 11 46503151 46503151 single base substitution G A intron_variant MELA-AU 11 46503603 46503603 single base substitution G A intron_variant MELA-AU 11 46503798 46503798 single base substitution G A intron_variant MELA-AU 11 46505147 46505148 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 46505367 46505367 single base substitution G A intron_variant MELA-AU 11 46505696 46505696 single base substitution G A intron_variant MELA-AU 11 46506291 46506291 single base substitution G A intron_variant MELA-AU 11 46506568 46506568 single base substitution A G intron_variant MELA-AU 11 46506891 46506891 single base substitution T A intron_variant MELA-AU 11 46506912 46506912 single base substitution C A intron_variant MELA-AU 11 46508008 46508008 single base substitution G A downstream_gene_variant MELA-AU 11 46508008 46508008 single base substitution G A intron_variant MELA-AU 11 46508061 46508061 single base substitution C T downstream_gene_variant MELA-AU 11 46508061 46508061 single base substitution C T intron_variant MELA-AU 11 46508118 46508118 single base substitution G A downstream_gene_variant MELA-AU 11 46508118 46508118 single base substitution G A intron_variant MELA-AU 11 46508289 46508289 single base substitution C T downstream_gene_variant MELA-AU 11 46508289 46508289 single base substitution C T intron_variant MELA-AU 11 46508629 46508630 deletion of <=200bp AA - downstream_gene_variant MELA-AU 11 46508629 46508630 deletion of <=200bp AA - intron_variant MELA-AU 11 46508645 46508645 single base substitution G A downstream_gene_variant MELA-AU 11 46508645 46508645 single base substitution G A intron_variant MELA-AU 11 46509922 46509922 single base substitution C T downstream_gene_variant MELA-AU 11 46509922 46509922 single base substitution C T intron_variant MELA-AU 11 46510990 46510990 single base substitution G A downstream_gene_variant MELA-AU 11 46510990 46510990 single base substitution G A intron_variant MELA-AU 11 46511557 46511557 single base substitution G A downstream_gene_variant MELA-AU 11 46511557 46511557 single base substitution G A intron_variant MELA-AU 11 46511715 46511715 single base substitution G A downstream_gene_variant MELA-AU 11 46511715 46511715 single base substitution G A intron_variant MELA-AU 11 46512812 46512812 single base substitution G A exon_variant MELA-AU 11 46512812 46512812 single base substitution G A intron_variant MELA-AU 11 46512814 46512814 single base substitution A T exon_variant MELA-AU 11 46512814 46512814 single base substitution A T intron_variant MELA-AU 11 46513665 46513665 single base substitution G A intron_variant MELA-AU 11 46513959 46513959 single base substitution T C intron_variant MELA-AU 11 46514206 46514206 single base substitution C T intron_variant MELA-AU 11 46514382 46514382 single base substitution G A intron_variant MELA-AU 11 46515753 46515753 single base substitution C T missense_variant D662N 1984G>A MELA-AU 11 46515753 46515753 single base substitution C T missense_variant D691N 2071G>A MELA-AU 11 46515753 46515753 single base substitution C T missense_variant D721N 2161G>A MELA-AU 11 46515753 46515753 single base substitution C T missense_variant D752N 2254G>A MELA-AU 11 46515753 46515753 single base substitution C T missense_variant D781N 2341G>A MELA-AU 11 46515753 46515753 single base substitution C T splice_region_variant MELA-AU 11 46515753 46515753 single base substitution C T upstream_gene_variant MELA-AU 11 46516159 46516159 single base substitution G A exon_variant MELA-AU 11 46516159 46516159 single base substitution G A intron_variant MELA-AU 11 46516159 46516159 single base substitution G A upstream_gene_variant MELA-AU 11 46516821 46516822 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 11 46516821 46516822 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 46516821 46516822 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 11 46516874 46516874 single base substitution G A exon_variant MELA-AU 11 46516874 46516874 single base substitution G A intron_variant MELA-AU 11 46516874 46516874 single base substitution G A upstream_gene_variant MELA-AU 11 46517509 46517509 single base substitution G A intron_variant MELA-AU 11 46517509 46517509 single base substitution G A upstream_gene_variant MELA-AU 11 46517829 46517829 single base substitution G A intron_variant MELA-AU 11 46517829 46517829 single base substitution G A upstream_gene_variant MELA-AU 11 46518435 46518435 single base substitution G A intron_variant MELA-AU 11 46518435 46518435 single base substitution G A upstream_gene_variant MELA-AU 11 46518696 46518696 single base substitution A G intron_variant MELA-AU 11 46518696 46518696 single base substitution A G upstream_gene_variant MELA-AU 11 46518845 46518845 single base substitution G A intron_variant MELA-AU 11 46518845 46518845 single base substitution G A upstream_gene_variant MELA-AU 11 46518859 46518859 single base substitution G A intron_variant MELA-AU 11 46518859 46518859 single base substitution G A upstream_gene_variant MELA-AU 11 46518894 46518894 single base substitution A C intron_variant MELA-AU 11 46518894 46518894 single base substitution A C upstream_gene_variant MELA-AU 11 46518988 46518988 single base substitution G A intron_variant MELA-AU 11 46518988 46518988 single base substitution G A upstream_gene_variant MELA-AU 11 46519075 46519075 single base substitution G A intron_variant MELA-AU 11 46519075 46519075 single base substitution G A upstream_gene_variant MELA-AU 11 46519076 46519076 single base substitution G A intron_variant MELA-AU 11 46519076 46519076 single base substitution G A upstream_gene_variant MELA-AU 11 46519438 46519438 single base substitution G A intron_variant MELA-AU 11 46519438 46519438 single base substitution G A upstream_gene_variant MELA-AU 11 46519443 46519443 single base substitution G A intron_variant MELA-AU 11 46519443 46519443 single base substitution G A upstream_gene_variant MELA-AU 11 46520648 46520648 single base substitution G A intron_variant MELA-AU 11 46520648 46520648 single base substitution G A upstream_gene_variant MELA-AU 11 46520677 46520677 single base substitution G A intron_variant MELA-AU 11 46520677 46520677 single base substitution G A upstream_gene_variant MELA-AU 11 46521196 46521196 single base substitution G A downstream_gene_variant MELA-AU 11 46521196 46521196 single base substitution G A intron_variant MELA-AU 11 46521196 46521196 single base substitution G A upstream_gene_variant MELA-AU 11 46521265 46521265 single base substitution G A downstream_gene_variant MELA-AU 11 46521265 46521265 single base substitution G A intron_variant MELA-AU 11 46521265 46521265 single base substitution G A upstream_gene_variant MELA-AU 11 46521619 46521619 single base substitution G A downstream_gene_variant MELA-AU 11 46521619 46521619 single base substitution G A intron_variant MELA-AU 11 46521619 46521619 single base substitution G A upstream_gene_variant MELA-AU 11 46522742 46522742 single base substitution G A downstream_gene_variant MELA-AU 11 46522742 46522742 single base substitution G A intron_variant MELA-AU 11 46522767 46522767 single base substitution G A downstream_gene_variant MELA-AU 11 46522767 46522767 single base substitution G A intron_variant MELA-AU 11 46524146 46524146 single base substitution G A downstream_gene_variant MELA-AU 11 46524146 46524146 single base substitution G A intron_variant MELA-AU 11 46524222 46524222 single base substitution A C downstream_gene_variant MELA-AU 11 46524222 46524222 single base substitution A C intron_variant MELA-AU 11 46524598 46524598 single base substitution G A downstream_gene_variant MELA-AU 11 46524598 46524598 single base substitution G A intron_variant MELA-AU 11 46525289 46525289 single base substitution C T downstream_gene_variant MELA-AU 11 46525289 46525289 single base substitution C T intron_variant MELA-AU 11 46525753 46525753 single base substitution G A downstream_gene_variant MELA-AU 11 46525753 46525753 single base substitution G A intron_variant MELA-AU 11 46525841 46525841 single base substitution C T downstream_gene_variant MELA-AU 11 46525841 46525841 single base substitution C T intron_variant MELA-AU 11 46525930 46525930 single base substitution G A downstream_gene_variant MELA-AU 11 46525930 46525930 single base substitution G A intron_variant MELA-AU 11 46525987 46525987 single base substitution G A downstream_gene_variant MELA-AU 11 46525987 46525987 single base substitution G A intron_variant MELA-AU 11 46526716 46526716 single base substitution G A intron_variant MELA-AU 11 46526982 46526982 single base substitution G A intron_variant MELA-AU 11 46527220 46527220 single base substitution G A intron_variant MELA-AU 11 46527256 46527256 single base substitution G A intron_variant MELA-AU 11 46527976 46527976 single base substitution G T intron_variant MELA-AU 11 46528350 46528350 single base substitution G A intron_variant MELA-AU 11 46528956 46528956 single base substitution G A intron_variant MELA-AU 11 46529228 46529228 single base substitution A G intron_variant MELA-AU 11 46529449 46529449 single base substitution G A intron_variant MELA-AU 11 46529534 46529534 single base substitution C A intron_variant MELA-AU 11 46529820 46529821 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 11 46529820 46529821 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 46529820 46529821 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant LR634LC MELA-AU 11 46529820 46529821 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant LR663LC MELA-AU 11 46529820 46529821 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant LR724LC MELA-AU 11 46529820 46529821 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant LR753LC MELA-AU 11 46530688 46530688 single base substitution G A intron_variant MELA-AU 11 46531493 46531493 single base substitution A T intron_variant MELA-AU 11 46532833 46532833 single base substitution T C intron_variant MELA-AU 11 46534230 46534231 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 46534242 46534242 single base substitution C T intron_variant MELA-AU 11 46534606 46534606 single base substitution G A intron_variant MELA-AU 11 46534813 46534813 single base substitution T A intron_variant MELA-AU 11 46536294 46536294 single base substitution G A intron_variant MELA-AU 11 46536450 46536450 single base substitution G A intron_variant MELA-AU 11 46537116 46537116 single base substitution T C intron_variant MELA-AU 11 46537460 46537460 single base substitution C T intron_variant MELA-AU 11 46537638 46537638 single base substitution G A intron_variant MELA-AU 11 46538199 46538199 single base substitution G A intron_variant MELA-AU 11 46539107 46539107 single base substitution G A intron_variant MELA-AU 11 46539687 46539687 single base substitution G A intron_variant MELA-AU 11 46540324 46540324 single base substitution G A intron_variant MELA-AU 11 46540404 46540404 single base substitution A T intron_variant MELA-AU 11 46540764 46540764 single base substitution G A intron_variant MELA-AU 11 46541677 46541677 single base substitution G A intron_variant MELA-AU 11 46541950 46541951 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 46542053 46542054 multiple base substitution (>=2bp and <=200bp) TC GT intron_variant MELA-AU 11 46542280 46542280 single base substitution G A intron_variant MELA-AU 11 46542622 46542622 single base substitution A G intron_variant MELA-AU 11 46543405 46543405 single base substitution G A intron_variant MELA-AU 11 46544030 46544030 single base substitution A C intron_variant MELA-AU 11 46546680 46546680 single base substitution A C intron_variant MELA-AU 11 46547622 46547622 single base substitution G A intron_variant MELA-AU 11 46547676 46547676 single base substitution A G intron_variant MELA-AU 11 46547853 46547853 single base substitution C G intron_variant MELA-AU 11 46549532 46549532 single base substitution G A intron_variant MELA-AU 11 46549683 46549683 single base substitution G A intron_variant MELA-AU 11 46549685 46549685 single base substitution A T intron_variant MELA-AU 11 46549874 46549874 single base substitution C T intron_variant MELA-AU 11 46550205 46550205 single base substitution G A intron_variant MELA-AU 11 46550212 46550212 single base substitution G A intron_variant MELA-AU 11 46551645 46551645 single base substitution G A intron_variant MELA-AU 11 46551707 46551707 single base substitution G A intron_variant MELA-AU 11 46551928 46551928 single base substitution G A intron_variant MELA-AU 11 46552072 46552072 single base substitution T C intron_variant MELA-AU 11 46552361 46552361 single base substitution C T intron_variant MELA-AU 11 46552361 46552361 single base substitution C T upstream_gene_variant MELA-AU 11 46552409 46552409 single base substitution G A intron_variant MELA-AU 11 46552409 46552409 single base substitution G A upstream_gene_variant MELA-AU 11 46553349 46553349 single base substitution C T intron_variant MELA-AU 11 46553349 46553349 single base substitution C T upstream_gene_variant MELA-AU 11 46555253 46555253 single base substitution G C intron_variant MELA-AU 11 46555253 46555253 single base substitution G C upstream_gene_variant MELA-AU 11 46557160 46557160 single base substitution A T intron_variant MELA-AU 11 46557680 46557680 single base substitution G A intron_variant MELA-AU 11 46558112 46558112 single base substitution G A intron_variant MELA-AU 11 46559433 46559433 single base substitution G A intron_variant MELA-AU 11 46560187 46560187 single base substitution G A intron_variant MELA-AU 11 46560268 46560268 single base substitution G A intron_variant MELA-AU 11 46561566 46561566 single base substitution G A intron_variant MELA-AU 11 46561572 46561572 single base substitution G A intron_variant MELA-AU 11 46561575 46561575 single base substitution A G intron_variant MELA-AU 11 46562267 46562267 single base substitution G A downstream_gene_variant MELA-AU 11 46562267 46562267 single base substitution G A intron_variant MELA-AU 11 46563284 46563284 single base substitution T A downstream_gene_variant MELA-AU 11 46563284 46563284 single base substitution T A intron_variant MELA-AU 11 46563372 46563372 single base substitution G A downstream_gene_variant MELA-AU 11 46563372 46563372 single base substitution G A intron_variant MELA-AU 11 46564820 46564820 single base substitution G A downstream_gene_variant MELA-AU 11 46564820 46564820 single base substitution G A synonymous_variant S249S 747C>T MELA-AU 11 46564927 46564927 single base substitution G A downstream_gene_variant MELA-AU 11 46564927 46564927 single base substitution G A missense_variant P214S 640C>T MELA-AU 11 46565807 46565807 single base substitution G A downstream_gene_variant MELA-AU 11 46565807 46565807 single base substitution G A intron_variant MELA-AU 11 46566769 46566769 single base substitution G A downstream_gene_variant MELA-AU 11 46566769 46566769 single base substitution G A intron_variant MELA-AU 11 46566772 46566772 single base substitution G A downstream_gene_variant MELA-AU 11 46566772 46566772 single base substitution G A intron_variant MELA-AU 11 46566906 46566906 single base substitution G A downstream_gene_variant MELA-AU 11 46566906 46566906 single base substitution G A intron_variant MELA-AU 11 46567002 46567002 single base substitution A G downstream_gene_variant MELA-AU 11 46567002 46567002 single base substitution A G intron_variant MELA-AU 11 46567155 46567156 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 46567155 46567156 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant VR183VC MELA-AU 11 46567279 46567279 single base substitution G A downstream_gene_variant MELA-AU 11 46567279 46567279 single base substitution G A exon_variant MELA-AU 11 46567279 46567279 single base substitution G A synonymous_variant S142S 426C>T MELA-AU 11 46567976 46567976 single base substitution G A downstream_gene_variant MELA-AU 11 46567976 46567976 single base substitution G A intron_variant MELA-AU 11 46568012 46568012 single base substitution G A downstream_gene_variant MELA-AU 11 46568012 46568012 single base substitution G A intron_variant MELA-AU 11 46568202 46568202 single base substitution G A downstream_gene_variant MELA-AU 11 46568202 46568202 single base substitution G A intron_variant MELA-AU 11 46568529 46568529 single base substitution A G downstream_gene_variant MELA-AU 11 46568529 46568529 single base substitution A G intron_variant MELA-AU 11 46568626 46568626 single base substitution A G downstream_gene_variant MELA-AU 11 46568626 46568626 single base substitution A G exon_variant MELA-AU 11 46568626 46568626 single base substitution A G intron_variant MELA-AU 11 46568917 46568917 single base substitution G A downstream_gene_variant MELA-AU 11 46568917 46568917 single base substitution G A exon_variant MELA-AU 11 46568917 46568917 single base substitution G A intron_variant MELA-AU 11 46569410 46569410 single base substitution C T downstream_gene_variant MELA-AU 11 46569410 46569410 single base substitution C T exon_variant MELA-AU 11 46569410 46569410 single base substitution C T missense_variant D51N 151G>A MELA-AU 11 46569410 46569410 single base substitution C T upstream_gene_variant MELA-AU 11 46569617 46569617 single base substitution G A downstream_gene_variant MELA-AU 11 46569617 46569617 single base substitution G A intron_variant MELA-AU 11 46569617 46569617 single base substitution G A upstream_gene_variant MELA-AU 11 46570026 46570027 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 11 46570026 46570027 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 11 46570026 46570027 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 46570026 46570027 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 11 46570081 46570081 single base substitution G A intron_variant MELA-AU 11 46570081 46570081 single base substitution G A upstream_gene_variant MELA-AU 11 46570133 46570133 single base substitution G A intron_variant MELA-AU 11 46570133 46570133 single base substitution G A upstream_gene_variant MELA-AU 11 46570319 46570319 single base substitution G A intron_variant MELA-AU 11 46570319 46570319 single base substitution G A upstream_gene_variant MELA-AU 11 46571316 46571316 single base substitution C T intron_variant MELA-AU 11 46571316 46571316 single base substitution C T upstream_gene_variant MELA-AU 11 46571878 46571878 single base substitution G A intron_variant MELA-AU 11 46571878 46571878 single base substitution G A upstream_gene_variant MELA-AU 11 46572413 46572413 single base substitution G A intron_variant MELA-AU 11 46572413 46572413 single base substitution G A upstream_gene_variant MELA-AU 11 46572622 46572622 single base substitution G A intron_variant MELA-AU 11 46572622 46572622 single base substitution G A upstream_gene_variant MELA-AU 11 46572783 46572783 single base substitution G A intron_variant MELA-AU 11 46572783 46572783 single base substitution G A upstream_gene_variant MELA-AU 11 46572996 46572996 single base substitution A G intron_variant MELA-AU 11 46572996 46572996 single base substitution A G upstream_gene_variant MELA-AU 11 46573397 46573397 single base substitution G A intron_variant MELA-AU 11 46573397 46573397 single base substitution G A upstream_gene_variant MELA-AU 11 46573473 46573473 single base substitution G A intron_variant MELA-AU 11 46573473 46573473 single base substitution G A upstream_gene_variant MELA-AU 11 46573677 46573677 single base substitution G A intron_variant MELA-AU 11 46573677 46573677 single base substitution G A upstream_gene_variant MELA-AU 11 46573827 46573827 single base substitution G A intron_variant MELA-AU 11 46573827 46573827 single base substitution G A upstream_gene_variant MELA-AU 11 46574104 46574104 single base substitution A G intron_variant MELA-AU 11 46574141 46574141 single base substitution G C intron_variant MELA-AU 11 46574216 46574216 single base substitution G A intron_variant MELA-AU 11 46574365 46574365 single base substitution A G intron_variant MELA-AU 11 46574713 46574713 single base substitution G A intron_variant MELA-AU 11 46575855 46575855 single base substitution T C intron_variant MELA-AU 11 46576835 46576835 single base substitution G A intron_variant MELA-AU 11 46576879 46576879 single base substitution C T intron_variant MELA-AU 11 46578027 46578027 single base substitution G T intron_variant MELA-AU 11 46578392 46578392 single base substitution A T intron_variant MELA-AU 11 46578635 46578635 single base substitution G A intron_variant MELA-AU 11 46578693 46578693 single base substitution A C intron_variant MELA-AU 11 46579252 46579252 single base substitution G A intron_variant MELA-AU 11 46579275 46579275 single base substitution C T intron_variant MELA-AU 11 46579474 46579474 single base substitution C T intron_variant MELA-AU 11 46580026 46580026 single base substitution G A intron_variant MELA-AU 11 46581851 46581851 single base substitution A C intron_variant MELA-AU 11 46582496 46582496 single base substitution G A intron_variant MELA-AU 11 46582530 46582530 single base substitution G A intron_variant MELA-AU 11 46583250 46583250 single base substitution A T intron_variant MELA-AU 11 46583587 46583587 single base substitution G A intron_variant MELA-AU 11 46584725 46584725 single base substitution G A intron_variant MELA-AU 11 46584746 46584746 single base substitution G A intron_variant MELA-AU 11 46584837 46584837 single base substitution G A intron_variant MELA-AU 11 46584981 46584981 single base substitution C T intron_variant MELA-AU 11 46585446 46585446 single base substitution G A intron_variant MELA-AU 11 46587623 46587623 single base substitution G A intron_variant MELA-AU 11 46587856 46587856 single base substitution T A intron_variant MELA-AU 11 46588815 46588815 single base substitution T G intron_variant MELA-AU 11 46589252 46589252 single base substitution G A intron_variant MELA-AU 11 46589525 46589525 single base substitution C T intron_variant MELA-AU 11 46591586 46591586 single base substitution G A intron_variant MELA-AU 11 46592122 46592122 single base substitution C A intron_variant MELA-AU 11 46593289 46593289 single base substitution G A intron_variant MELA-AU 11 46593689 46593689 single base substitution G A intron_variant MELA-AU 11 46593778 46593778 single base substitution G A intron_variant MELA-AU 11 46594166 46594166 single base substitution G A intron_variant MELA-AU 11 46594645 46594645 single base substitution C T intron_variant MELA-AU 11 46594862 46594862 single base substitution G A intron_variant MELA-AU 11 46596189 46596189 single base substitution C T intron_variant MELA-AU 11 46596546 46596546 single base substitution T A intron_variant MELA-AU 11 46596870 46596870 single base substitution G A intron_variant MELA-AU 11 46598656 46598656 single base substitution C T intron_variant MELA-AU 11 46599023 46599023 single base substitution G A intron_variant MELA-AU 11 46599024 46599024 single base substitution G A intron_variant MELA-AU 11 46599193 46599193 single base substitution A G intron_variant MELA-AU 11 46601053 46601053 single base substitution A G intron_variant MELA-AU 11 46602626 46602626 single base substitution G A intron_variant MELA-AU 11 46602726 46602726 single base substitution A G intron_variant MELA-AU 11 46602867 46602867 single base substitution G A intron_variant MELA-AU 11 46603067 46603067 single base substitution G A intron_variant MELA-AU 11 46603172 46603172 single base substitution A G intron_variant MELA-AU 11 46603569 46603569 single base substitution G A intron_variant MELA-AU 11 46603767 46603767 single base substitution A G intron_variant MELA-AU 11 46603817 46603818 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 46604086 46604086 single base substitution T A intron_variant MELA-AU 11 46604716 46604716 single base substitution G A intron_variant MELA-AU 11 46606055 46606055 single base substitution C T intron_variant MELA-AU 11 46607683 46607683 single base substitution G A intron_variant MELA-AU 11 46608602 46608602 single base substitution G T intron_variant MELA-AU 11 46609511 46609511 single base substitution G A intron_variant MELA-AU 11 46609528 46609528 single base substitution T A intron_variant MELA-AU 11 46609568 46609568 single base substitution G A intron_variant MELA-AU 11 46609858 46609858 single base substitution G A intron_variant MELA-AU 11 46609975 46609975 single base substitution G A intron_variant MELA-AU 11 46610084 46610084 single base substitution G A intron_variant MELA-AU 11 46610355 46610355 single base substitution G A intron_variant MELA-AU 11 46611027 46611027 single base substitution G A intron_variant MELA-AU 11 46611576 46611576 single base substitution A T intron_variant MELA-AU 11 46613386 46613386 single base substitution G A intron_variant MELA-AU 11 46613386 46613386 single base substitution G A upstream_gene_variant MELA-AU 11 46613715 46613715 single base substitution C T intron_variant MELA-AU 11 46613715 46613715 single base substitution C T upstream_gene_variant MELA-AU 11 46613807 46613807 single base substitution G A intron_variant MELA-AU 11 46613807 46613807 single base substitution G A upstream_gene_variant MELA-AU 11 46613846 46613846 single base substitution G A intron_variant MELA-AU 11 46613846 46613846 single base substitution G A upstream_gene_variant MELA-AU 11 46613890 46613890 single base substitution G A intron_variant MELA-AU 11 46613890 46613890 single base substitution G A upstream_gene_variant MELA-AU 11 46614080 46614080 single base substitution G A intron_variant MELA-AU 11 46614080 46614080 single base substitution G A upstream_gene_variant MELA-AU 11 46615944 46615944 single base substitution C T upstream_gene_variant MELA-AU 11 46615955 46615955 single base substitution C T upstream_gene_variant MELA-AU 11 46616321 46616321 single base substitution G A upstream_gene_variant MELA-AU 11 46616457 46616457 single base substitution G A upstream_gene_variant MELA-AU 11 46616714 46616714 single base substitution G A upstream_gene_variant MELA-AU 11 46616714 46616715 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 46617418 46617418 single base substitution C T upstream_gene_variant MELA-AU 11 46617657 46617657 single base substitution C T upstream_gene_variant MELA-AU 11 46618048 46618048 single base substitution G A upstream_gene_variant MELA-AU 11 46619042 46619042 single base substitution G A upstream_gene_variant ORCA-IN 11 46419165 46419165 single base substitution G T synonymous_variant T1125T 3375C>A ORCA-IN 11 46419165 46419165 single base substitution G T synonymous_variant T1154T 3462C>A ORCA-IN 11 46419165 46419165 single base substitution G T synonymous_variant T1184T 3552C>A ORCA-IN 11 46419165 46419165 single base substitution G T synonymous_variant T1215T 3645C>A ORCA-IN 11 46419165 46419165 single base substitution G T synonymous_variant T1244T 3732C>A ORCA-IN 11 46419165 46419165 single base substitution G T synonymous_variant T202T 606C>A ORCA-IN 11 46421465 46421465 single base substitution G A intron_variant ORCA-IN 11 46422233 46422233 single base substitution C T intron_variant ORCA-IN 11 46434405 46434405 single base substitution C T intron_variant ORCA-IN 11 46441545 46441545 single base substitution T C intron_variant ORCA-IN 11 46441545 46441545 single base substitution T C upstream_gene_variant ORCA-IN 11 46446902 46446902 single base substitution A G intron_variant ORCA-IN 11 46455086 46455086 single base substitution C T downstream_gene_variant ORCA-IN 11 46455086 46455086 single base substitution C T missense_variant E853K 2557G>A ORCA-IN 11 46455086 46455086 single base substitution C T missense_variant E882K 2644G>A ORCA-IN 11 46455086 46455086 single base substitution C T missense_variant E912K 2734G>A ORCA-IN 11 46455086 46455086 single base substitution C T missense_variant E943K 2827G>A ORCA-IN 11 46455086 46455086 single base substitution C T missense_variant E972K 2914G>A ORCA-IN 11 46455619 46455619 single base substitution C T downstream_gene_variant ORCA-IN 11 46455619 46455619 single base substitution C T intron_variant ORCA-IN 11 46465126 46465126 single base substitution C T exon_variant ORCA-IN 11 46465126 46465126 single base substitution C T synonymous_variant Q729Q 2187G>A ORCA-IN 11 46465126 46465126 single base substitution C T synonymous_variant Q758Q 2274G>A ORCA-IN 11 46465126 46465126 single base substitution C T synonymous_variant Q788Q 2364G>A ORCA-IN 11 46465126 46465126 single base substitution C T synonymous_variant Q819Q 2457G>A ORCA-IN 11 46465126 46465126 single base substitution C T synonymous_variant Q848Q 2544G>A ORCA-IN 11 46466621 46466621 deletion of <=200bp C - intron_variant ORCA-IN 11 46504895 46504895 single base substitution C A intron_variant ORCA-IN 11 46506296 46506296 single base substitution C G intron_variant ORCA-IN 11 46506430 46506430 single base substitution C G intron_variant ORCA-IN 11 46515720 46515720 single base substitution G A exon_variant ORCA-IN 11 46515720 46515720 single base substitution G A missense_variant R673C 2017C>T ORCA-IN 11 46515720 46515720 single base substitution G A missense_variant R702C 2104C>T ORCA-IN 11 46515720 46515720 single base substitution G A missense_variant R732C 2194C>T ORCA-IN 11 46515720 46515720 single base substitution G A missense_variant R763C 2287C>T ORCA-IN 11 46515720 46515720 single base substitution G A missense_variant R792C 2374C>T ORCA-IN 11 46515720 46515720 single base substitution G A upstream_gene_variant ORCA-IN 11 46554263 46554263 single base substitution G A intron_variant ORCA-IN 11 46554263 46554263 single base substitution G A upstream_gene_variant ORCA-IN 11 46572725 46572725 single base substitution G A intron_variant ORCA-IN 11 46572725 46572725 single base substitution G A upstream_gene_variant OV-AU 11 46414343 46414343 single base substitution C G downstream_gene_variant OV-AU 11 46415019 46415019 single base substitution A C downstream_gene_variant OV-AU 11 46416208 46416208 single base substitution T G downstream_gene_variant OV-AU 11 46424075 46424075 single base substitution C G intron_variant OV-AU 11 46433483 46433483 single base substitution G A intron_variant OV-AU 11 46452972 46452972 single base substitution T C downstream_gene_variant OV-AU 11 46452972 46452972 single base substitution T C intron_variant OV-AU 11 46455684 46455684 single base substitution A G downstream_gene_variant OV-AU 11 46455684 46455684 single base substitution A G intron_variant OV-AU 11 46471086 46471086 single base substitution A T intron_variant OV-AU 11 46477895 46477895 single base substitution A T intron_variant OV-AU 11 46478806 46478806 single base substitution C A intron_variant OV-AU 11 46484354 46484354 single base substitution T A intron_variant OV-AU 11 46496414 46496414 single base substitution G C intron_variant OV-AU 11 46497707 46497707 single base substitution T G intron_variant OV-AU 11 46507465 46507465 single base substitution A T intron_variant OV-AU 11 46511162 46511162 single base substitution A C downstream_gene_variant OV-AU 11 46511162 46511162 single base substitution A C intron_variant OV-AU 11 46513425 46513425 single base substitution T A intron_variant OV-AU 11 46526184 46526184 single base substitution A C exon_variant OV-AU 11 46526184 46526184 single base substitution A C intron_variant OV-AU 11 46527258 46527258 single base substitution G A intron_variant OV-AU 11 46546752 46546752 single base substitution G A intron_variant OV-AU 11 46547036 46547036 single base substitution T G intron_variant OV-AU 11 46547225 46547225 single base substitution C T intron_variant OV-AU 11 46553718 46553718 single base substitution G C intron_variant OV-AU 11 46553718 46553718 single base substitution G C upstream_gene_variant OV-AU 11 46565637 46565637 single base substitution T C downstream_gene_variant OV-AU 11 46565637 46565637 single base substitution T C intron_variant OV-AU 11 46569693 46569693 single base substitution C A downstream_gene_variant OV-AU 11 46569693 46569693 single base substitution C A intron_variant OV-AU 11 46569693 46569693 single base substitution C A upstream_gene_variant OV-AU 11 46569710 46569710 single base substitution C T downstream_gene_variant OV-AU 11 46569710 46569710 single base substitution C T intron_variant OV-AU 11 46569710 46569710 single base substitution C T upstream_gene_variant OV-AU 11 46571971 46571971 single base substitution G T intron_variant OV-AU 11 46571971 46571971 single base substitution G T upstream_gene_variant OV-AU 11 46584417 46584417 single base substitution C G intron_variant OV-AU 11 46601262 46601262 single base substitution T G intron_variant OV-AU 11 46603758 46603758 single base substitution T C intron_variant OV-AU 11 46607466 46607466 single base substitution C T intron_variant OV-AU 11 46614812 46614812 single base substitution C T intron_variant OV-AU 11 46614812 46614812 single base substitution C T upstream_gene_variant OV-AU 11 46615629 46615629 single base substitution C G 5_prime_UTR_variant OV-AU 11 46615629 46615629 single base substitution C G upstream_gene_variant PACA-AU 11 46420612 46420612 single base substitution C G intron_variant PACA-AU 11 46433022 46433022 single base substitution T C intron_variant PACA-AU 11 46434172 46434172 single base substitution T C intron_variant PACA-AU 11 46434945 46434945 single base substitution A T intron_variant PACA-AU 11 46446843 46446843 single base substitution T A intron_variant PACA-AU 11 46446844 46446844 single base substitution C A intron_variant PACA-AU 11 46453534 46453534 single base substitution T A downstream_gene_variant PACA-AU 11 46453534 46453534 single base substitution T A intron_variant PACA-AU 11 46455989 46455989 single base substitution T C downstream_gene_variant PACA-AU 11 46455989 46455989 single base substitution T C intron_variant PACA-AU 11 46457256 46457256 single base substitution C T intron_variant PACA-AU 11 46458333 46458333 single base substitution T C intron_variant PACA-AU 11 46476964 46476964 single base substitution C A intron_variant PACA-AU 11 46489320 46489320 single base substitution G A intron_variant PACA-AU 11 46491226 46491226 single base substitution T C intron_variant PACA-AU 11 46501053 46501053 single base substitution C A intron_variant PACA-AU 11 46504456 46504456 single base substitution C T intron_variant PACA-AU 11 46508459 46508459 insertion of <=200bp - ATAA downstream_gene_variant PACA-AU 11 46508459 46508459 insertion of <=200bp - ATAA intron_variant PACA-AU 11 46508459 46508462 deletion of <=200bp ATAA - downstream_gene_variant PACA-AU 11 46508459 46508462 deletion of <=200bp ATAA - intron_variant PACA-AU 11 46510439 46510439 single base substitution G A downstream_gene_variant PACA-AU 11 46510439 46510439 single base substitution G A intron_variant PACA-AU 11 46513144 46513144 single base substitution C T intron_variant PACA-AU 11 46531203 46531203 single base substitution T A intron_variant PACA-AU 11 46534999 46534999 deletion of <=200bp T - intron_variant PACA-AU 11 46537024 46537024 insertion of <=200bp - AAAC intron_variant PACA-AU 11 46540419 46540419 single base substitution G C intron_variant PACA-AU 11 46543382 46543382 single base substitution T A intron_variant PACA-AU 11 46544995 46544995 insertion of <=200bp - A intron_variant PACA-AU 11 46547118 46547118 single base substitution C T intron_variant PACA-AU 11 46548081 46548081 single base substitution A T intron_variant PACA-AU 11 46549777 46549777 single base substitution C T intron_variant PACA-AU 11 46556232 46556232 insertion of <=200bp - T intron_variant PACA-AU 11 46556232 46556232 insertion of <=200bp - T upstream_gene_variant PACA-AU 11 46557700 46557700 single base substitution A T intron_variant PACA-AU 11 46558211 46558211 single base substitution T C intron_variant PACA-AU 11 46566837 46566837 single base substitution C G downstream_gene_variant PACA-AU 11 46566837 46566837 single base substitution C G intron_variant PACA-AU 11 46567035 46567035 single base substitution G C downstream_gene_variant PACA-AU 11 46567035 46567035 single base substitution G C intron_variant PACA-AU 11 46568712 46568712 single base substitution A C downstream_gene_variant PACA-AU 11 46568712 46568712 single base substitution A C exon_variant PACA-AU 11 46568712 46568712 single base substitution A C intron_variant PACA-AU 11 46568712 46568712 single base substitution A C missense_variant L110R 329T>G PACA-AU 11 46572862 46572862 single base substitution T G intron_variant PACA-AU 11 46572862 46572862 single base substitution T G upstream_gene_variant PACA-AU 11 46578134 46578134 single base substitution A G intron_variant PACA-AU 11 46578864 46578864 single base substitution A G intron_variant PACA-AU 11 46586944 46586944 single base substitution A T intron_variant PACA-AU 11 46590988 46590988 single base substitution A T intron_variant PACA-AU 11 46601492 46601492 single base substitution A G intron_variant PACA-AU 11 46607077 46607077 single base substitution G A intron_variant PACA-AU 11 46607648 46607648 single base substitution C G intron_variant PACA-AU 11 46609568 46609568 single base substitution G T intron_variant PACA-AU 11 46610009 46610009 insertion of <=200bp - TT intron_variant PACA-AU 11 46615805 46615805 single base substitution G A upstream_gene_variant PACA-AU 11 46619730 46619730 single base substitution T G upstream_gene_variant PACA-CA 11 46413770 46413770 single base substitution G C downstream_gene_variant PACA-CA 11 46414501 46414501 single base substitution C T downstream_gene_variant PACA-CA 11 46416303 46416303 single base substitution C G downstream_gene_variant PACA-CA 11 46422338 46422339 deletion of <=200bp CA - intron_variant PACA-CA 11 46432377 46432377 single base substitution C T intron_variant PACA-CA 11 46442675 46442675 single base substitution C T intron_variant PACA-CA 11 46442675 46442675 single base substitution C T upstream_gene_variant PACA-CA 11 46448016 46448016 single base substitution A T intron_variant PACA-CA 11 46457908 46457908 single base substitution T C intron_variant PACA-CA 11 46461849 46461849 single base substitution C A intron_variant PACA-CA 11 46461856 46461856 single base substitution G T intron_variant PACA-CA 11 46466634 46466634 single base substitution A C intron_variant PACA-CA 11 46467037 46467037 single base substitution A C intron_variant PACA-CA 11 46473334 46473334 single base substitution C G intron_variant PACA-CA 11 46484160 46484160 single base substitution T C intron_variant PACA-CA 11 46489797 46489797 single base substitution A T intron_variant PACA-CA 11 46494237 46494237 single base substitution A T intron_variant PACA-CA 11 46496416 46496416 insertion of <=200bp - A intron_variant PACA-CA 11 46497472 46497472 single base substitution G A intron_variant PACA-CA 11 46497896 46497896 single base substitution C T intron_variant PACA-CA 11 46498604 46498604 single base substitution T G intron_variant PACA-CA 11 46503791 46503791 single base substitution G A intron_variant PACA-CA 11 46508869 46508869 insertion of <=200bp - A downstream_gene_variant PACA-CA 11 46508869 46508869 insertion of <=200bp - A intron_variant PACA-CA 11 46512818 46512818 single base substitution G A exon_variant PACA-CA 11 46512818 46512818 single base substitution G A intron_variant PACA-CA 11 46513636 46513636 single base substitution G A intron_variant PACA-CA 11 46515418 46515418 single base substitution C T exon_variant PACA-CA 11 46515418 46515418 single base substitution C T intron_variant PACA-CA 11 46515422 46515422 single base substitution C G exon_variant PACA-CA 11 46515422 46515422 single base substitution C G intron_variant PACA-CA 11 46527165 46527165 single base substitution G A intron_variant PACA-CA 11 46528795 46528795 single base substitution C A intron_variant PACA-CA 11 46529825 46529825 single base substitution C T exon_variant PACA-CA 11 46529825 46529825 single base substitution C T intron_variant PACA-CA 11 46529825 46529825 single base substitution C T missense_variant R633H 1898G>A PACA-CA 11 46529825 46529825 single base substitution C T missense_variant R662H 1985G>A PACA-CA 11 46529825 46529825 single base substitution C T missense_variant R723H 2168G>A PACA-CA 11 46529825 46529825 single base substitution C T missense_variant R752H 2255G>A PACA-CA 11 46529846 46529846 single base substitution G A exon_variant PACA-CA 11 46529846 46529846 single base substitution G A intron_variant PACA-CA 11 46529846 46529846 single base substitution G A missense_variant S626F 1877C>T PACA-CA 11 46529846 46529846 single base substitution G A missense_variant S655F 1964C>T PACA-CA 11 46529846 46529846 single base substitution G A missense_variant S716F 2147C>T PACA-CA 11 46529846 46529846 single base substitution G A missense_variant S745F 2234C>T PACA-CA 11 46531170 46531170 single base substitution G A intron_variant PACA-CA 11 46532944 46532944 single base substitution G A intron_variant PACA-CA 11 46532945 46532945 single base substitution A C intron_variant PACA-CA 11 46540953 46540953 single base substitution T C intron_variant PACA-CA 11 46542658 46542658 insertion of <=200bp - CT intron_variant PACA-CA 11 46544683 46544683 single base substitution T C intron_variant PACA-CA 11 46548285 46548285 insertion of <=200bp - C intron_variant PACA-CA 11 46550721 46550721 single base substitution T C intron_variant PACA-CA 11 46551212 46551212 single base substitution C A intron_variant PACA-CA 11 46560268 46560268 single base substitution G A intron_variant PACA-CA 11 46561641 46561641 single base substitution C T intron_variant PACA-CA 11 46562091 46562091 single base substitution C G intron_variant PACA-CA 11 46562880 46562880 single base substitution C T downstream_gene_variant PACA-CA 11 46562880 46562880 single base substitution C T intron_variant PACA-CA 11 46563459 46563459 single base substitution G T downstream_gene_variant PACA-CA 11 46563459 46563459 single base substitution G T intron_variant PACA-CA 11 46564712 46564712 single base substitution G A downstream_gene_variant PACA-CA 11 46564712 46564712 single base substitution G A intron_variant PACA-CA 11 46564712 46564712 single base substitution G A synonymous_variant S285S 855C>T PACA-CA 11 46571375 46571375 insertion of <=200bp - G intron_variant PACA-CA 11 46571375 46571375 insertion of <=200bp - G upstream_gene_variant PACA-CA 11 46575417 46575417 single base substitution C A intron_variant PACA-CA 11 46576933 46576933 single base substitution A G intron_variant PACA-CA 11 46577319 46577319 single base substitution T A intron_variant PACA-CA 11 46586874 46586874 single base substitution T A intron_variant PACA-CA 11 46594313 46594313 deletion of <=200bp T - intron_variant PACA-CA 11 46596097 46596097 single base substitution T C intron_variant PACA-CA 11 46610152 46610152 single base substitution C T intron_variant PACA-CA 11 46612117 46612117 single base substitution C G intron_variant PAEN-AU 11 46416329 46416329 single base substitution C T downstream_gene_variant PAEN-AU 11 46529440 46529440 single base substitution T A intron_variant PAEN-IT 11 46441144 46441144 single base substitution C A intron_variant PAEN-IT 11 46441144 46441144 single base substitution C A upstream_gene_variant PAEN-IT 11 46484734 46484734 single base substitution G A intron_variant PAEN-IT 11 46545418 46545418 single base substitution C T intron_variant PBCA-DE 11 46413364 46413364 single base substitution G T downstream_gene_variant PBCA-DE 11 46415429 46415429 single base substitution T G downstream_gene_variant PBCA-DE 11 46416636 46416636 single base substitution G A downstream_gene_variant PBCA-DE 11 46417038 46417039 deletion of <=200bp CA - downstream_gene_variant PBCA-DE 11 46417223 46417223 single base substitution G A downstream_gene_variant PBCA-DE 11 46421696 46421696 single base substitution G A intron_variant PBCA-DE 11 46432377 46432377 single base substitution C T intron_variant PBCA-DE 11 46437502 46437502 single base substitution C T intron_variant PBCA-DE 11 46455875 46455875 insertion of <=200bp - A downstream_gene_variant PBCA-DE 11 46455875 46455875 insertion of <=200bp - A intron_variant PBCA-DE 11 46465756 46465756 single base substitution A C intron_variant PBCA-DE 11 46474812 46474812 deletion of <=200bp T - intron_variant PBCA-DE 11 46504817 46504817 single base substitution C T intron_variant PBCA-DE 11 46512091 46512091 single base substitution C A downstream_gene_variant PBCA-DE 11 46512091 46512091 single base substitution C A intron_variant PBCA-DE 11 46521292 46521292 single base substitution C T downstream_gene_variant PBCA-DE 11 46521292 46521292 single base substitution C T intron_variant PBCA-DE 11 46521292 46521292 single base substitution C T upstream_gene_variant PBCA-DE 11 46531036 46531036 single base substitution G T intron_variant PBCA-DE 11 46533333 46533333 single base substitution T A intron_variant PBCA-DE 11 46536871 46536871 insertion of <=200bp - AAG intron_variant PBCA-DE 11 46557095 46557095 single base substitution G A intron_variant PBCA-DE 11 46557095 46557095 single base substitution G A upstream_gene_variant PBCA-DE 11 46558038 46558038 single base substitution C A intron_variant PBCA-DE 11 46559316 46559316 single base substitution G A intron_variant PBCA-DE 11 46574437 46574437 insertion of <=200bp - T intron_variant PBCA-DE 11 46576742 46576742 single base substitution C T intron_variant PBCA-DE 11 46580458 46580458 insertion of <=200bp - A intron_variant PBCA-DE 11 46586866 46586866 insertion of <=200bp - T intron_variant PBCA-DE 11 46587971 46587971 deletion of <=200bp A - intron_variant PBCA-DE 11 46597190 46597190 single base substitution G A intron_variant PBCA-DE 11 46602089 46602089 single base substitution A G intron_variant PBCA-DE 11 46613792 46613792 deletion of <=200bp T - intron_variant PBCA-DE 11 46613792 46613792 deletion of <=200bp T - upstream_gene_variant PRAD-CA 11 46425262 46425262 single base substitution T C intron_variant PRAD-CA 11 46425896 46425896 single base substitution G A intron_variant PRAD-CA 11 46435094 46435094 single base substitution G A intron_variant PRAD-CA 11 46502735 46502735 single base substitution A T intron_variant PRAD-CA 11 46504570 46504570 single base substitution G A intron_variant PRAD-CA 11 46532925 46532925 single base substitution T A intron_variant PRAD-CA 11 46550635 46550635 single base substitution T C intron_variant PRAD-CA 11 46618299 46618299 single base substitution T C upstream_gene_variant PRAD-UK 11 46446384 46446384 insertion of <=200bp - A intron_variant PRAD-UK 11 46446506 46446506 single base substitution G A intron_variant PRAD-UK 11 46467692 46467692 single base substitution A G intron_variant PRAD-UK 11 46468077 46468110 deletion of <=200bp TGGAACAAGCTAGACTCAGAGTTTCTCAACCTCT - intron_variant PRAD-UK 11 46478600 46478600 single base substitution G A intron_variant PRAD-UK 11 46486671 46486671 single base substitution A G intron_variant PRAD-UK 11 46506662 46506662 single base substitution A T intron_variant PRAD-UK 11 46514192 46514192 single base substitution C A intron_variant PRAD-UK 11 46571796 46571796 single base substitution C A intron_variant PRAD-UK 11 46571796 46571796 single base substitution C A upstream_gene_variant PRAD-UK 11 46590506 46590506 single base substitution G C intron_variant PRAD-US 11 46569829 46569829 single base substitution T A downstream_gene_variant PRAD-US 11 46569829 46569829 single base substitution T A exon_variant PRAD-US 11 46569829 46569829 single base substitution T A missense_variant E34D 102A>T PRAD-US 11 46569829 46569829 single base substitution T A upstream_gene_variant READ-US 11 46564857 46564857 single base substitution G A downstream_gene_variant READ-US 11 46564857 46564857 single base substitution G A missense_variant T237M 710C>T READ-US 11 46564891 46564891 single base substitution G A downstream_gene_variant READ-US 11 46564891 46564891 single base substitution G A missense_variant R226C 676C>T RECA-EU 11 46417609 46417609 single base substitution T A downstream_gene_variant RECA-EU 11 46421707 46421707 single base substitution T C intron_variant RECA-EU 11 46452962 46452962 single base substitution A C downstream_gene_variant RECA-EU 11 46452962 46452962 single base substitution A C intron_variant RECA-EU 11 46455989 46455989 single base substitution T C downstream_gene_variant RECA-EU 11 46455989 46455989 single base substitution T C intron_variant RECA-EU 11 46461755 46461755 single base substitution G T intron_variant RECA-EU 11 46469747 46469747 single base substitution C A intron_variant RECA-EU 11 46480749 46480749 single base substitution A C intron_variant RECA-EU 11 46483449 46483449 single base substitution C G intron_variant RECA-EU 11 46490482 46490482 single base substitution T G intron_variant RECA-EU 11 46491454 46491454 single base substitution C A intron_variant RECA-EU 11 46495495 46495495 single base substitution C T intron_variant RECA-EU 11 46531837 46531837 single base substitution C G intron_variant RECA-EU 11 46542901 46542901 single base substitution T A intron_variant RECA-EU 11 46546271 46546271 single base substitution T C intron_variant RECA-EU 11 46557621 46557621 single base substitution A G intron_variant RECA-EU 11 46559774 46559774 single base substitution A G intron_variant RECA-EU 11 46568317 46568317 single base substitution C G downstream_gene_variant RECA-EU 11 46568317 46568317 single base substitution C G intron_variant RECA-EU 11 46600596 46600596 single base substitution A T intron_variant RECA-EU 11 46601508 46601508 single base substitution C T intron_variant RECA-EU 11 46603334 46603334 single base substitution A T intron_variant RECA-EU 11 46613266 46613266 single base substitution C T intron_variant RECA-EU 11 46613266 46613266 single base substitution C T upstream_gene_variant RECA-EU 11 46614012 46614012 single base substitution T A intron_variant RECA-EU 11 46614012 46614012 single base substitution T A upstream_gene_variant RECA-EU 11 46619496 46619496 single base substitution T A upstream_gene_variant SKCA-BR 11 46413417 46413417 single base substitution G C downstream_gene_variant SKCA-BR 11 46413584 46413584 single base substitution T G downstream_gene_variant SKCA-BR 11 46415429 46415429 single base substitution T G downstream_gene_variant SKCA-BR 11 46421390 46421390 single base substitution G A intron_variant SKCA-BR 11 46427922 46427923 deletion of <=200bp TA - intron_variant SKCA-BR 11 46429857 46429857 single base substitution G A intron_variant SKCA-BR 11 46435579 46435579 single base substitution G A intron_variant SKCA-BR 11 46437739 46437748 deletion of <=200bp CTTATTAGAT - intron_variant SKCA-BR 11 46439613 46439613 single base substitution G A intron_variant SKCA-BR 11 46439613 46439613 single base substitution G A upstream_gene_variant SKCA-BR 11 46444824 46444824 single base substitution G A intron_variant SKCA-BR 11 46445614 46445614 single base substitution G A intron_variant SKCA-BR 11 46445658 46445658 single base substitution G A intron_variant SKCA-BR 11 46445957 46445957 single base substitution G A intron_variant SKCA-BR 11 46447152 46447152 single base substitution G A intron_variant SKCA-BR 11 46454160 46454160 single base substitution G A downstream_gene_variant SKCA-BR 11 46454160 46454160 single base substitution G A intron_variant SKCA-BR 11 46457132 46457132 single base substitution G A intron_variant SKCA-BR 11 46458195 46458195 single base substitution A G intron_variant SKCA-BR 11 46458689 46458689 single base substitution G A intron_variant SKCA-BR 11 46460496 46460496 single base substitution C T intron_variant SKCA-BR 11 46462862 46462862 single base substitution G A intron_variant SKCA-BR 11 46463519 46463519 single base substitution A C intron_variant SKCA-BR 11 46474695 46474695 single base substitution C G intron_variant SKCA-BR 11 46474921 46474921 single base substitution T C intron_variant SKCA-BR 11 46474924 46474924 single base substitution A C intron_variant SKCA-BR 11 46476942 46476942 single base substitution G T intron_variant SKCA-BR 11 46480081 46480084 deletion of <=200bp CCTT - intron_variant SKCA-BR 11 46481287 46481289 deletion of <=200bp CAT - intron_variant SKCA-BR 11 46481289 46481289 insertion of <=200bp - TAC intron_variant SKCA-BR 11 46482575 46482575 single base substitution T C intron_variant SKCA-BR 11 46482831 46482831 single base substitution G A intron_variant SKCA-BR 11 46485898 46485898 single base substitution G A intron_variant SKCA-BR 11 46490914 46490914 single base substitution T C intron_variant SKCA-BR 11 46491448 46491448 single base substitution G A intron_variant SKCA-BR 11 46494768 46494768 single base substitution T C intron_variant SKCA-BR 11 46495512 46495512 single base substitution G A intron_variant SKCA-BR 11 46496435 46496435 single base substitution G A intron_variant SKCA-BR 11 46497727 46497727 single base substitution G A intron_variant SKCA-BR 11 46499790 46499790 single base substitution C G intron_variant SKCA-BR 11 46500189 46500189 single base substitution C T intron_variant SKCA-BR 11 46501056 46501056 single base substitution G A intron_variant SKCA-BR 11 46501142 46501142 single base substitution G A intron_variant SKCA-BR 11 46502790 46502790 single base substitution G A intron_variant SKCA-BR 11 46504704 46504704 single base substitution T A intron_variant SKCA-BR 11 46507081 46507081 single base substitution C A intron_variant SKCA-BR 11 46510976 46510976 single base substitution G A downstream_gene_variant SKCA-BR 11 46510976 46510976 single base substitution G A intron_variant SKCA-BR 11 46512857 46512857 single base substitution T C exon_variant SKCA-BR 11 46512857 46512857 single base substitution T C intron_variant SKCA-BR 11 46515712 46515712 single base substitution G A exon_variant SKCA-BR 11 46515712 46515712 single base substitution G A synonymous_variant A675A 2025C>T SKCA-BR 11 46515712 46515712 single base substitution G A synonymous_variant A704A 2112C>T SKCA-BR 11 46515712 46515712 single base substitution G A synonymous_variant A734A 2202C>T SKCA-BR 11 46515712 46515712 single base substitution G A synonymous_variant A765A 2295C>T SKCA-BR 11 46515712 46515712 single base substitution G A synonymous_variant A794A 2382C>T SKCA-BR 11 46515712 46515712 single base substitution G A upstream_gene_variant SKCA-BR 11 46519842 46519842 single base substitution C T intron_variant SKCA-BR 11 46519842 46519842 single base substitution C T upstream_gene_variant SKCA-BR 11 46521198 46521198 single base substitution G A downstream_gene_variant SKCA-BR 11 46521198 46521198 single base substitution G A intron_variant SKCA-BR 11 46521198 46521198 single base substitution G A upstream_gene_variant SKCA-BR 11 46534099 46534099 single base substitution G A intron_variant SKCA-BR 11 46534754 46534754 single base substitution C T intron_variant SKCA-BR 11 46540141 46540141 single base substitution G C intron_variant SKCA-BR 11 46541725 46541725 single base substitution G A intron_variant SKCA-BR 11 46555825 46555825 single base substitution C A intron_variant SKCA-BR 11 46555825 46555825 single base substitution C A upstream_gene_variant SKCA-BR 11 46555831 46555831 single base substitution T G intron_variant SKCA-BR 11 46555831 46555831 single base substitution T G upstream_gene_variant SKCA-BR 11 46556107 46556107 single base substitution G A intron_variant SKCA-BR 11 46556107 46556107 single base substitution G A upstream_gene_variant SKCA-BR 11 46559861 46559861 single base substitution G A intron_variant SKCA-BR 11 46563579 46563580 deletion of <=200bp TG - downstream_gene_variant SKCA-BR 11 46563579 46563580 deletion of <=200bp TG - frameshift_variant Q573 SKCA-BR 11 46563579 46563580 deletion of <=200bp TG - frameshift_variant Q663 SKCA-BR 11 46564783 46564783 single base substitution C T downstream_gene_variant SKCA-BR 11 46564783 46564783 single base substitution C T intron_variant SKCA-BR 11 46564783 46564783 single base substitution C T missense_variant V262M 784G>A SKCA-BR 11 46564946 46564946 single base substitution A C downstream_gene_variant SKCA-BR 11 46564946 46564946 single base substitution A C splice_region_variant SKCA-BR 11 46567583 46567583 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 11 46567583 46567583 insertion of <=200bp - CT intron_variant SKCA-BR 11 46569033 46569033 single base substitution C A downstream_gene_variant SKCA-BR 11 46569033 46569033 single base substitution C A intron_variant SKCA-BR 11 46569033 46569033 single base substitution C A upstream_gene_variant SKCA-BR 11 46570808 46570808 single base substitution A T intron_variant SKCA-BR 11 46570808 46570808 single base substitution A T upstream_gene_variant SKCA-BR 11 46571171 46571171 single base substitution T A intron_variant SKCA-BR 11 46571171 46571171 single base substitution T A upstream_gene_variant SKCA-BR 11 46571504 46571504 single base substitution G A intron_variant SKCA-BR 11 46571504 46571504 single base substitution G A upstream_gene_variant SKCA-BR 11 46573070 46573070 single base substitution G A intron_variant SKCA-BR 11 46573070 46573070 single base substitution G A upstream_gene_variant SKCA-BR 11 46573906 46573906 single base substitution G A intron_variant SKCA-BR 11 46573906 46573906 single base substitution G A upstream_gene_variant SKCA-BR 11 46574527 46574527 single base substitution G A intron_variant SKCA-BR 11 46586782 46586782 single base substitution C T intron_variant SKCA-BR 11 46586825 46586825 single base substitution G A intron_variant SKCA-BR 11 46588396 46588396 single base substitution T A intron_variant SKCA-BR 11 46589107 46589107 single base substitution C T intron_variant SKCA-BR 11 46589493 46589493 single base substitution T G intron_variant SKCA-BR 11 46590790 46590790 insertion of <=200bp - CA intron_variant SKCA-BR 11 46599500 46599500 single base substitution C T intron_variant SKCA-BR 11 46601302 46601302 single base substitution A C intron_variant SKCA-BR 11 46601343 46601343 single base substitution T C intron_variant SKCA-BR 11 46601477 46601477 single base substitution G A intron_variant SKCA-BR 11 46601556 46601556 single base substitution C T intron_variant SKCA-BR 11 46607044 46607044 single base substitution C A intron_variant SKCA-BR 11 46607555 46607555 single base substitution C G intron_variant SKCA-BR 11 46608920 46608920 single base substitution A C intron_variant SKCA-BR 11 46615299 46615299 single base substitution A C intron_variant SKCA-BR 11 46615299 46615299 single base substitution A C upstream_gene_variant SKCA-BR 11 46616626 46616626 single base substitution T A upstream_gene_variant SKCA-BR 11 46617912 46617912 single base substitution A C upstream_gene_variant SKCA-BR 11 46618587 46618587 single base substitution G A upstream_gene_variant SKCM-US 11 46419074 46419074 single base substitution T C missense_variant N1156D 3466A>G SKCM-US 11 46419074 46419074 single base substitution T C missense_variant N1185D 3553A>G SKCM-US 11 46419074 46419074 single base substitution T C missense_variant N1215D 3643A>G SKCM-US 11 46419074 46419074 single base substitution T C missense_variant N1246D 3736A>G SKCM-US 11 46419074 46419074 single base substitution T C missense_variant N1275D 3823A>G SKCM-US 11 46419074 46419074 single base substitution T C missense_variant N233D 697A>G SKCM-US 11 46419286 46419286 single base substitution G A missense_variant S1085F 3254C>T SKCM-US 11 46419286 46419286 single base substitution G A missense_variant S1114F 3341C>T SKCM-US 11 46419286 46419286 single base substitution G A missense_variant S1144F 3431C>T SKCM-US 11 46419286 46419286 single base substitution G A missense_variant S1175F 3524C>T SKCM-US 11 46419286 46419286 single base substitution G A missense_variant S1204F 3611C>T SKCM-US 11 46419286 46419286 single base substitution G A missense_variant S162F 485C>T SKCM-US 11 46419343 46419343 single base substitution C T missense_variant S1066N 3197G>A SKCM-US 11 46419343 46419343 single base substitution C T missense_variant S1095N 3284G>A SKCM-US 11 46419343 46419343 single base substitution C T missense_variant S1125N 3374G>A SKCM-US 11 46419343 46419343 single base substitution C T missense_variant S1156N 3467G>A SKCM-US 11 46419343 46419343 single base substitution C T missense_variant S1185N 3554G>A SKCM-US 11 46419343 46419343 single base substitution C T missense_variant S143N 428G>A SKCM-US 11 46419476 46419476 single base substitution C A missense_variant G1022C 3064G>T SKCM-US 11 46419476 46419476 single base substitution C A missense_variant G1051C 3151G>T SKCM-US 11 46419476 46419476 single base substitution C A missense_variant G1081C 3241G>T SKCM-US 11 46419476 46419476 single base substitution C A missense_variant G1112C 3334G>T SKCM-US 11 46419476 46419476 single base substitution C A missense_variant G1141C 3421G>T SKCM-US 11 46419476 46419476 single base substitution C A missense_variant G99C 295G>T SKCM-US 11 46430162 46430162 single base substitution G A stop_gained Q1012* 3034C>T SKCM-US 11 46430162 46430162 single base substitution G A stop_gained Q1042* 3124C>T SKCM-US 11 46430162 46430162 single base substitution G A stop_gained Q1073* 3217C>T SKCM-US 11 46430162 46430162 single base substitution G A stop_gained Q1102* 3304C>T SKCM-US 11 46430162 46430162 single base substitution G A stop_gained Q60* 178C>T SKCM-US 11 46430162 46430162 single base substitution G A stop_gained Q983* 2947C>T SKCM-US 11 46529781 46529781 single base substitution G A exon_variant SKCM-US 11 46529781 46529781 single base substitution G A intron_variant SKCM-US 11 46529781 46529781 single base substitution G A missense_variant P648S 1942C>T SKCM-US 11 46529781 46529781 single base substitution G A missense_variant P677S 2029C>T SKCM-US 11 46529781 46529781 single base substitution G A missense_variant P738S 2212C>T SKCM-US 11 46529781 46529781 single base substitution G A missense_variant P767S 2299C>T SKCM-US 11 46534347 46534347 single base substitution A G exon_variant SKCM-US 11 46534347 46534347 single base substitution A G intron_variant SKCM-US 11 46534347 46534347 single base substitution A G missense_variant S607P 1819T>C SKCM-US 11 46534347 46534347 single base substitution A G missense_variant S697P 2089T>C SKCM-US 11 46563511 46563511 single base substitution C T downstream_gene_variant SKCM-US 11 46563511 46563511 single base substitution C T missense_variant E596K 1786G>A SKCM-US 11 46563511 46563511 single base substitution C T missense_variant E686K 2056G>A SKCM-US 11 46563784 46563784 single base substitution C G downstream_gene_variant SKCM-US 11 46563784 46563784 single base substitution C G missense_variant E505Q 1513G>C SKCM-US 11 46563784 46563784 single base substitution C G missense_variant E595Q 1783G>C SKCM-US 11 46563868 46563868 single base substitution G A downstream_gene_variant SKCM-US 11 46563868 46563868 single base substitution G A missense_variant R477C 1429C>T SKCM-US 11 46563868 46563868 single base substitution G A missense_variant R567C 1699C>T SKCM-US 11 46564027 46564027 single base substitution G A downstream_gene_variant SKCM-US 11 46564027 46564027 single base substitution G A stop_gained Q424* 1270C>T SKCM-US 11 46564027 46564027 single base substitution G A stop_gained Q514* 1540C>T SKCM-US 11 46564131 46564131 single base substitution G A downstream_gene_variant SKCM-US 11 46564131 46564131 single base substitution G A missense_variant T389I 1166C>T SKCM-US 11 46564131 46564131 single base substitution G A missense_variant T479I 1436C>T SKCM-US 11 46564360 46564360 single base substitution G A downstream_gene_variant SKCM-US 11 46564360 46564360 single base substitution G A missense_variant P313S 937C>T SKCM-US 11 46564360 46564360 single base substitution G A missense_variant P403S 1207C>T SKCM-US 11 46564444 46564444 single base substitution G A downstream_gene_variant SKCM-US 11 46564444 46564444 single base substitution G A stop_gained Q285* 853C>T SKCM-US 11 46564444 46564444 single base substitution G A stop_gained Q375* 1123C>T SKCM-US 11 46564472 46564472 single base substitution C T downstream_gene_variant SKCM-US 11 46564472 46564472 single base substitution C T synonymous_variant L275L 825G>A SKCM-US 11 46564472 46564472 single base substitution C T synonymous_variant L365L 1095G>A SKCM-US 11 46564525 46564525 single base substitution G A downstream_gene_variant SKCM-US 11 46564525 46564525 single base substitution G A missense_variant P258S 772C>T SKCM-US 11 46564525 46564525 single base substitution G A missense_variant P348S 1042C>T SKCM-US 11 46564804 46564804 single base substitution G A downstream_gene_variant SKCM-US 11 46564804 46564804 single base substitution G A stop_gained Q255* 763C>T SKCM-US 11 46564805 46564805 single base substitution G A downstream_gene_variant SKCM-US 11 46564805 46564805 single base substitution G A synonymous_variant I254I 762C>T SKCM-US 11 46564875 46564875 single base substitution G A downstream_gene_variant SKCM-US 11 46564875 46564875 single base substitution G A missense_variant S231L 692C>T SKCM-US 11 46564927 46564927 single base substitution G A downstream_gene_variant SKCM-US 11 46564927 46564927 single base substitution G A missense_variant P214S 640C>T SKCM-US 11 46565585 46565585 single base substitution C T downstream_gene_variant SKCM-US 11 46565585 46565585 single base substitution C T synonymous_variant V186V 558G>A SKCM-US 11 46567197 46567197 single base substitution G A downstream_gene_variant SKCM-US 11 46567197 46567197 single base substitution G A missense_variant P170S 508C>T SKCM-US 11 46567235 46567235 single base substitution G A downstream_gene_variant SKCM-US 11 46567235 46567235 single base substitution G A missense_variant A157V 470C>T SKCM-US 11 46567280 46567280 single base substitution G A downstream_gene_variant SKCM-US 11 46567280 46567280 single base substitution G A exon_variant SKCM-US 11 46567280 46567280 single base substitution G A missense_variant S142F 425C>T SKCM-US 11 46568713 46568713 single base substitution G A downstream_gene_variant SKCM-US 11 46568713 46568713 single base substitution G A exon_variant SKCM-US 11 46568713 46568713 single base substitution G A intron_variant SKCM-US 11 46568713 46568713 single base substitution G A missense_variant L110F 328C>T SKCM-US 11 46568772 46568772 single base substitution G A downstream_gene_variant SKCM-US 11 46568772 46568772 single base substitution G A exon_variant SKCM-US 11 46568772 46568772 single base substitution G A intron_variant SKCM-US 11 46568772 46568772 single base substitution G A missense_variant S90F 269C>T STAD-US 11 46419038 46419038 insertion of <=200bp - C frameshift_variant D1168G? STAD-US 11 46419038 46419038 insertion of <=200bp - C frameshift_variant D1197G? STAD-US 11 46419038 46419038 insertion of <=200bp - C frameshift_variant D1227G? STAD-US 11 46419038 46419038 insertion of <=200bp - C frameshift_variant D1258G? STAD-US 11 46419038 46419038 insertion of <=200bp - C frameshift_variant D1287G? STAD-US 11 46419038 46419038 insertion of <=200bp - C frameshift_variant D245G? STAD-US 11 46419227 46419227 single base substitution G A stop_gained R1105* 3313C>T STAD-US 11 46419227 46419227 single base substitution G A stop_gained R1134* 3400C>T STAD-US 11 46419227 46419227 single base substitution G A stop_gained R1164* 3490C>T STAD-US 11 46419227 46419227 single base substitution G A stop_gained R1195* 3583C>T STAD-US 11 46419227 46419227 single base substitution G A stop_gained R1224* 3670C>T STAD-US 11 46419227 46419227 single base substitution G A stop_gained R182* 544C>T STAD-US 11 46419316 46419316 single base substitution G A missense_variant T1075M 3224C>T STAD-US 11 46419316 46419316 single base substitution G A missense_variant T1104M 3311C>T STAD-US 11 46419316 46419316 single base substitution G A missense_variant T1134M 3401C>T STAD-US 11 46419316 46419316 single base substitution G A missense_variant T1165M 3494C>T STAD-US 11 46419316 46419316 single base substitution G A missense_variant T1194M 3581C>T STAD-US 11 46419316 46419316 single base substitution G A missense_variant T152M 455C>T STAD-US 11 46419362 46419362 single base substitution C T missense_variant G1060S 3178G>A STAD-US 11 46419362 46419362 single base substitution C T missense_variant G1089S 3265G>A STAD-US 11 46419362 46419362 single base substitution C T missense_variant G1119S 3355G>A STAD-US 11 46419362 46419362 single base substitution C T missense_variant G1150S 3448G>A STAD-US 11 46419362 46419362 single base substitution C T missense_variant G1179S 3535G>A STAD-US 11 46419362 46419362 single base substitution C T missense_variant G137S 409G>A STAD-US 11 46419427 46419427 single base substitution T C missense_variant E1038G 3113A>G STAD-US 11 46419427 46419427 single base substitution T C missense_variant E1067G 3200A>G STAD-US 11 46419427 46419427 single base substitution T C missense_variant E1097G 3290A>G STAD-US 11 46419427 46419427 single base substitution T C missense_variant E1128G 3383A>G STAD-US 11 46419427 46419427 single base substitution T C missense_variant E1157G 3470A>G STAD-US 11 46419427 46419427 single base substitution T C missense_variant E115G 344A>G STAD-US 11 46419435 46419435 single base substitution C A synonymous_variant L1035L 3105G>T STAD-US 11 46419435 46419435 single base substitution C A synonymous_variant L1064L 3192G>T STAD-US 11 46419435 46419435 single base substitution C A synonymous_variant L1094L 3282G>T STAD-US 11 46419435 46419435 single base substitution C A synonymous_variant L1125L 3375G>T STAD-US 11 46419435 46419435 single base substitution C A synonymous_variant L112L 336G>T STAD-US 11 46419435 46419435 single base substitution C A synonymous_variant L1154L 3462G>T STAD-US 11 46430169 46430169 single base substitution C T synonymous_variant V1009V 3027G>A STAD-US 11 46430169 46430169 single base substitution C T synonymous_variant V1039V 3117G>A STAD-US 11 46430169 46430169 single base substitution C T synonymous_variant V1070V 3210G>A STAD-US 11 46430169 46430169 single base substitution C T synonymous_variant V1099V 3297G>A STAD-US 11 46430169 46430169 single base substitution C T synonymous_variant V57V 171G>A STAD-US 11 46430169 46430169 single base substitution C T synonymous_variant V980V 2940G>A STAD-US 11 46439470 46439470 single base substitution G A stop_gained R1008* 3022C>T STAD-US 11 46439470 46439470 single base substitution G A stop_gained R1037* 3109C>T STAD-US 11 46439470 46439470 single base substitution G A stop_gained R26* 76C>T STAD-US 11 46439470 46439470 single base substitution G A stop_gained R918* 2752C>T STAD-US 11 46439470 46439470 single base substitution G A stop_gained R947* 2839C>T STAD-US 11 46439470 46439470 single base substitution G A stop_gained R977* 2929C>T STAD-US 11 46455113 46455113 single base substitution G A downstream_gene_variant STAD-US 11 46455113 46455113 single base substitution G A stop_gained R844* 2530C>T STAD-US 11 46455113 46455113 single base substitution G A stop_gained R873* 2617C>T STAD-US 11 46455113 46455113 single base substitution G A stop_gained R903* 2707C>T STAD-US 11 46455113 46455113 single base substitution G A stop_gained R934* 2800C>T STAD-US 11 46455113 46455113 single base substitution G A stop_gained R963* 2887C>T STAD-US 11 46465080 46465080 single base substitution A G exon_variant STAD-US 11 46465080 46465080 single base substitution A G missense_variant W745R 2233T>C STAD-US 11 46465080 46465080 single base substitution A G missense_variant W774R 2320T>C STAD-US 11 46465080 46465080 single base substitution A G missense_variant W804R 2410T>C STAD-US 11 46465080 46465080 single base substitution A G missense_variant W835R 2503T>C STAD-US 11 46465080 46465080 single base substitution A G missense_variant W864R 2590T>C STAD-US 11 46529844 46529844 single base substitution T C exon_variant STAD-US 11 46529844 46529844 single base substitution T C intron_variant STAD-US 11 46529844 46529844 single base substitution T C missense_variant M627V 1879A>G STAD-US 11 46529844 46529844 single base substitution T C missense_variant M656V 1966A>G STAD-US 11 46529844 46529844 single base substitution T C missense_variant M717V 2149A>G STAD-US 11 46529844 46529844 single base substitution T C missense_variant M746V 2236A>G STAD-US 11 46563764 46563764 single base substitution C A downstream_gene_variant STAD-US 11 46563764 46563764 single base substitution C A missense_variant Q511H 1533G>T STAD-US 11 46563764 46563764 single base substitution C A missense_variant Q601H 1803G>T STAD-US 11 46564191 46564191 single base substitution T C downstream_gene_variant STAD-US 11 46564191 46564191 single base substitution T C missense_variant Q369R 1106A>G STAD-US 11 46564191 46564191 single base substitution T C missense_variant Q459R 1376A>G STAD-US 11 46564257 46564257 deletion of <=200bp G - downstream_gene_variant STAD-US 11 46564257 46564257 deletion of <=200bp G - frameshift_variant P347 STAD-US 11 46564257 46564257 deletion of <=200bp G - frameshift_variant P437 STAD-US 11 46564257 46564257 single base substitution G A downstream_gene_variant STAD-US 11 46564257 46564257 single base substitution G A missense_variant P347L 1040C>T STAD-US 11 46564257 46564257 single base substitution G A missense_variant P437L 1310C>T STAD-US 11 46564318 46564318 single base substitution A C downstream_gene_variant STAD-US 11 46564318 46564318 single base substitution A C missense_variant S327A 979T>G STAD-US 11 46564318 46564318 single base substitution A C missense_variant S417A 1249T>G STAD-US 11 46564329 46564329 single base substitution C A downstream_gene_variant STAD-US 11 46564329 46564329 single base substitution C A missense_variant G323V 968G>T STAD-US 11 46564329 46564329 single base substitution C A missense_variant G413V 1238G>T STAD-US 11 46564896 46564896 single base substitution C T downstream_gene_variant STAD-US 11 46564896 46564896 single base substitution C T missense_variant R224H 671G>A STAD-US 11 46567255 46567255 single base substitution C T downstream_gene_variant STAD-US 11 46567255 46567255 single base substitution C T exon_variant STAD-US 11 46567255 46567255 single base substitution C T synonymous_variant Q150Q 450G>A STAD-US 11 46568662 46568662 single base substitution C T downstream_gene_variant STAD-US 11 46568662 46568662 single base substitution C T exon_variant STAD-US 11 46568662 46568662 single base substitution C T intron_variant STAD-US 11 46568662 46568662 single base substitution C T splice_donor_variant STAD-US 11 46568814 46568814 single base substitution T G downstream_gene_variant STAD-US 11 46568814 46568814 single base substitution T G exon_variant STAD-US 11 46568814 46568814 single base substitution T G intron_variant STAD-US 11 46568814 46568814 single base substitution T G missense_variant N76T 227A>C THCA-SA 11 46439580 46439580 single base substitution G A missense_variant P1000L 2999C>T THCA-SA 11 46439580 46439580 single base substitution G A missense_variant P881L 2642C>T THCA-SA 11 46439580 46439580 single base substitution G A missense_variant P910L 2729C>T THCA-SA 11 46439580 46439580 single base substitution G A missense_variant P940L 2819C>T THCA-SA 11 46439580 46439580 single base substitution G A missense_variant P971L 2912C>T THCA-SA 11 46439580 46439580 single base substitution G A upstream_gene_variant THCA-US 11 46455150 46455150 single base substitution G A downstream_gene_variant THCA-US 11 46455150 46455150 single base substitution G A synonymous_variant S831S 2493C>T THCA-US 11 46455150 46455150 single base substitution G A synonymous_variant S860S 2580C>T THCA-US 11 46455150 46455150 single base substitution G A synonymous_variant S890S 2670C>T THCA-US 11 46455150 46455150 single base substitution G A synonymous_variant S921S 2763C>T THCA-US 11 46455150 46455150 single base substitution G A synonymous_variant S950S 2850C>T UCEC-US 11 46419022 46419022 single base substitution C T missense_variant R1173K 3518G>A UCEC-US 11 46419022 46419022 single base substitution C T missense_variant R1202K 3605G>A UCEC-US 11 46419022 46419022 single base substitution C T missense_variant R1232K 3695G>A UCEC-US 11 46419022 46419022 single base substitution C T missense_variant R1263K 3788G>A UCEC-US 11 46419022 46419022 single base substitution C T missense_variant R1292K 3875G>A UCEC-US 11 46419022 46419022 single base substitution C T missense_variant R250K 749G>A UCEC-US 11 46419046 46419046 single base substitution C T missense_variant S1165N 3494G>A UCEC-US 11 46419046 46419046 single base substitution C T missense_variant S1194N 3581G>A UCEC-US 11 46419046 46419046 single base substitution C T missense_variant S1224N 3671G>A UCEC-US 11 46419046 46419046 single base substitution C T missense_variant S1255N 3764G>A UCEC-US 11 46419046 46419046 single base substitution C T missense_variant S1284N 3851G>A UCEC-US 11 46419046 46419046 single base substitution C T missense_variant S242N 725G>A UCEC-US 11 46419115 46419115 single base substitution G A missense_variant P1142L 3425C>T UCEC-US 11 46419115 46419115 single base substitution G A missense_variant P1171L 3512C>T UCEC-US 11 46419115 46419115 single base substitution G A missense_variant P1201L 3602C>T UCEC-US 11 46419115 46419115 single base substitution G A missense_variant P1232L 3695C>T UCEC-US 11 46419115 46419115 single base substitution G A missense_variant P1261L 3782C>T UCEC-US 11 46419115 46419115 single base substitution G A missense_variant P219L 656C>T UCEC-US 11 46455066 46455066 single base substitution G A downstream_gene_variant UCEC-US 11 46455066 46455066 single base substitution G A synonymous_variant V859V 2577C>T UCEC-US 11 46455066 46455066 single base substitution G A synonymous_variant V888V 2664C>T UCEC-US 11 46455066 46455066 single base substitution G A synonymous_variant V918V 2754C>T UCEC-US 11 46455066 46455066 single base substitution G A synonymous_variant V949V 2847C>T UCEC-US 11 46455066 46455066 single base substitution G A synonymous_variant V978V 2934C>T UCEC-US 11 46455108 46455108 single base substitution C G downstream_gene_variant UCEC-US 11 46455108 46455108 single base substitution C G missense_variant R845S 2535G>C UCEC-US 11 46455108 46455108 single base substitution C G missense_variant R874S 2622G>C UCEC-US 11 46455108 46455108 single base substitution C G missense_variant R904S 2712G>C UCEC-US 11 46455108 46455108 single base substitution C G missense_variant R935S 2805G>C UCEC-US 11 46455108 46455108 single base substitution C G missense_variant R964S 2892G>C UCEC-US 11 46529855 46529855 single base substitution C T exon_variant UCEC-US 11 46529855 46529855 single base substitution C T intron_variant UCEC-US 11 46529855 46529855 single base substitution C T missense_variant R623H 1868G>A UCEC-US 11 46529855 46529855 single base substitution C T missense_variant R652H 1955G>A UCEC-US 11 46529855 46529855 single base substitution C T missense_variant R713H 2138G>A UCEC-US 11 46529855 46529855 single base substitution C T missense_variant R742H 2225G>A UCEC-US 11 46529865 46529865 single base substitution C A exon_variant UCEC-US 11 46529865 46529865 single base substitution C A intron_variant UCEC-US 11 46529865 46529865 single base substitution C A missense_variant D620Y 1858G>T UCEC-US 11 46529865 46529865 single base substitution C A missense_variant D649Y 1945G>T UCEC-US 11 46529865 46529865 single base substitution C A missense_variant D710Y 2128G>T UCEC-US 11 46529865 46529865 single base substitution C A missense_variant D739Y 2215G>T UCEC-US 11 46563548 46563548 single base substitution C A downstream_gene_variant UCEC-US 11 46563548 46563548 single base substitution C A missense_variant E583D 1749G>T UCEC-US 11 46563548 46563548 single base substitution C A missense_variant E673D 2019G>T UCEC-US 11 46563555 46563555 single base substitution G C downstream_gene_variant UCEC-US 11 46563555 46563555 single base substitution G C stop_gained S581* 1742C>G UCEC-US 11 46563555 46563555 single base substitution G C stop_gained S671* 2012C>G UCEC-US 11 46563649 46563649 single base substitution G A downstream_gene_variant UCEC-US 11 46563649 46563649 single base substitution G A missense_variant P550S 1648C>T UCEC-US 11 46563649 46563649 single base substitution G A missense_variant P640S 1918C>T UCEC-US 11 46563735 46563735 single base substitution G T downstream_gene_variant UCEC-US 11 46563735 46563735 single base substitution G T stop_gained S521* 1562C>A UCEC-US 11 46563735 46563735 single base substitution G T stop_gained S611* 1832C>A UCEC-US 11 46564217 46564218 deletion of <=200bp CA - downstream_gene_variant UCEC-US 11 46564217 46564218 deletion of <=200bp CA - frameshift_variant V360 UCEC-US 11 46564217 46564218 deletion of <=200bp CA - frameshift_variant V450 UCEC-US 11 46564236 46564236 single base substitution G A downstream_gene_variant UCEC-US 11 46564236 46564236 single base substitution G A missense_variant S354L 1061C>T UCEC-US 11 46564236 46564236 single base substitution G A missense_variant S444L 1331C>T UCEC-US 11 46564363 46564373 deletion of <=200bp GGCTAGACAGA - downstream_gene_variant UCEC-US 11 46564363 46564373 deletion of <=200bp GGCTAGACAGA - frameshift_variant PLSSH308 UCEC-US 11 46564363 46564373 deletion of <=200bp GGCTAGACAGA - frameshift_variant PLSSH398 UCEC-US 11 46564856 46564856 single base substitution C T downstream_gene_variant UCEC-US 11 46564856 46564856 single base substitution C T synonymous_variant T237T 711G>A UCEC-US 11 46564917 46564917 single base substitution C A downstream_gene_variant UCEC-US 11 46564917 46564917 single base substitution C A missense_variant G217V 650G>T UCEC-US 11 46568747 46568747 single base substitution T C downstream_gene_variant UCEC-US 11 46568747 46568747 single base substitution T C exon_variant UCEC-US 11 46568747 46568747 single base substitution T C intron_variant UCEC-US 11 46568747 46568747 single base substitution T C synonymous_variant P98P 294A>G UCEC-US 11 46568757 46568757 single base substitution C T downstream_gene_variant UCEC-US 11 46568757 46568757 single base substitution C T exon_variant UCEC-US 11 46568757 46568757 single base substitution C T intron_variant UCEC-US 11 46568757 46568757 single base substitution C T missense_variant R95H 284G>A UCEC-US 11 46569395 46569395 single base substitution T C downstream_gene_variant UCEC-US 11 46569395 46569395 single base substitution T C exon_variant UCEC-US 11 46569395 46569395 single base substitution T C missense_variant T56A 166A>G UCEC-US 11 46569395 46569395 single base substitution T C upstream_gene_variant UCEC-US 11 46569818 46569818 single base substitution C T downstream_gene_variant UCEC-US 11 46569818 46569818 single base substitution C T exon_variant UCEC-US 11 46569818 46569818 single base substitution C T missense_variant R38Q 113G>A UCEC-US 11 46569818 46569818 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LC_S11 COSM1188218 c.3146G>T p.W1049L Substitution - Missense 11:46410339-46410339 - CSCC-17-T COSM4488949 c.3395C>T p.P1132L Substitution - Missense 11:46408521-46408521 - TCGA-D1-A16J-01 COSM927222 c.1199C>G p.S400C Substitution - Missense 11:46542818-46542818 - YUROL COSM5372507 c.2469A>G p.E823E Substitution - coding silent 11:46493660-46493660 - CH-103-T2 COSM5650438 c.613C>T p.Q205* Substitution - Nonsense 11:46543980-46543980 - TCGA-B5-A0JN-01 COSM927220 c.1194_1204del11 p.L399fs*3 Deletion - Frameshift 11:46542813-46542823 - TCGA-C5-A2LS-01 COSM4856215 c.2982G>A p.L994L Substitution - coding silent 11:46408664-46408664 - TCGA-HU-A4GT-01 COSM4033013 c.1106A>G p.Q369R Substitution - Missense 11:46542641-46542641 - TCGA-BR-4292-01 COSM4033027 c.227A>C p.N76T Substitution - Missense 11:46547264-46547264 - TCGA-AZ-4315-01 COSM1353955 c.2335T>G p.F779V Substitution - Missense 11:46508195-46508195 - TCGA-AP-A05P-01 COSM927191 c.3605G>A p.R1202K Substitution - Missense 11:46397472-46397472 - COLO201 COSM1980598 c.1101C>T p.G367G Substitution - coding silent 11:46542646-46542646 - TCGA-BH-A0WA-01 COSM429014 c.1378A>C p.T460P Substitution - Missense 11:46542369-46542369 - TCGA-EE-A2ML-06 COSM3447616 c.640C>T p.P214S Substitution - Missense 11:46543377-46543377 - CSCC-16-T COSM4529534 c.161G>A p.R54H Substitution - Missense 11:46547850-46547850 - LUAD-5V8LT COSM401181 c.427C>G p.L143V Substitution - Missense 11:46545728-46545728 - HX12T COSM1604568 c.2557A>G p.N853D Substitution - Missense 11:46433623-46433623 - S02093 COSM5673065 c.3174T>C p.T1058T Substitution - coding silent 11:46410311-46410311 - TCGA-ER-A19P-06 COSM3447598 c.1513G>C p.E505Q Substitution - Missense 11:46542234-46542234 - B22-Tumor COSM1756750 c.2401A>G p.N801D Substitution - Missense 11:46434999-46434999 - TCGA-AA-3492-01 COSM1353964 c.628G>A p.E210K Substitution - Missense 11:46543389-46543389 - CSCC-31-T COSM4516925 c.2522-1_2522GG>AA p.? Unknown 11:46443598-46443599 - 2492722 COSM1980504 c.2626C>T p.L876L Substitution - coding silent 11:46433554-46433554 - CSCC-27-T COSM4484822 c.2579C>T p.S860F Substitution - Missense 11:46433601-46433601 - TCGA-DU-A5TR-01 COSM3967524 c.1799G>A p.W600* Substitution - Nonsense 11:46542218-46542218 - TCGA-AR-A255-01 COSM1475452 c.1567G>T p.E523* Substitution - Nonsense 11:46542450-46542450 - TCGA-B5-A11E-01 COSM927230 c.284G>A p.R95H Substitution - Missense 11:46547207-46547207 - HCC148 COSM3666324 c.319A>C p.I107L Substitution - Missense 11:46547172-46547172 - PCSI_0508_Pa_P_526 COSM4807690 c.1964C>T p.S655F Substitution - Missense 11:46508296-46508296 - SC_9094 COSM5556158 c.2794G>A p.G932S Substitution - Missense 11:46434876-46434876 - ESCC_87 COSM4430822 c.1151G>A p.R384H Substitution - Missense 11:46542866-46542866 - TCGA-EE-A2GJ-06 COSM3447629 c.269C>T p.S90F Substitution - Missense 11:46547222-46547222 - TCGA-D1-A17Q-01 COSM927226 c.650G>T p.G217V Substitution - Missense 11:46543367-46543367 - CSCC-19-T COSM4491203 c.3485C>T p.S1162F Substitution - Missense 11:46397592-46397592 - HCC148T COSM3666325 c.319A>C p.I107L Substitution - Missense 11:46547172-46547172 - SC_9094 COSM5556157 c.2524G>A p.G842S Substitution - Missense 11:46434876-46434876 - pfg143T COSM4754319 c.2108G>A p.R703H Substitution - Missense 11:46512778-46512778 - TCGA-AX-A0J0-01 COSM927203 c.1945G>T p.D649Y Substitution - Missense 11:46508315-46508315 - TCGA-DM-A28C-01 COSM1353968 c.574G>T p.G192* Substitution - Nonsense 11:46544019-46544019 - CSCC-16-T COSM4461698 c.1216C>T p.R406C Substitution - Missense 11:46542531-46542531 - sysucc-1370T COSM5469606 c.3149A>G p.Y1050C Substitution - Missense 11:46397928-46397928 - TCGA-A6-5661-01 COSM5826965 c.2847-3delT p.? Unknown 11:46410371-46410371 - TCGA-EK-A2RC-01 COSM4848629 c.103G>C p.D35H Substitution - Missense 11:46548278-46548278 - TCGA-DK-A3IQ-01 COSM1298069 c.448C>T p.Q150* Substitution - Nonsense 11:46545707-46545707 - 8031656 COSM1168723 c.329T>G p.L110R Substitution - Missense 11:46547162-46547162 - BD72T COSM5512770 c.2650G>A p.V884M Substitution - Missense 11:46435020-46435020 - H1672 COSM309082 c.2945G>A p.S982N Substitution - Missense 11:46408701-46408701 - B66-Tumor COSM1746252 c.347T>C p.L116P Substitution - Missense 11:46547144-46547144 - TCGA-EE-A2GI-06 COSM3447606 c.825G>A p.L275L Substitution - coding silent 11:46542922-46542922 - KYSE-150 COSM1980561 c.2113G>A p.D705N Substitution - Missense 11:46512773-46512773 - TCGA-B5-A11U-01 COSM927202 c.2225G>A p.R742H Substitution - Missense 11:46508305-46508305 - Pat_41_B COSM5838601 c.1088G>A p.G363D Substitution - Missense 11:46542929-46542929 - KYSE-30 COSM4191795 c.3405T>C p.G1135G Substitution - coding silent 11:46397942-46397942 - 35M COSM5580197 c.3482C>T p.S1161F Substitution - Missense 11:46397595-46397595 - RK337_C01 COSM4943424 c.3512C>A p.T1171N Substitution - Missense 11:46397835-46397835 - TCGA-EE-A3J5-06 COSM3447591 c.3304C>T p.Q1102* Substitution - Nonsense 11:46408612-46408612 - 9227_T COSM5042123 c.25G>A p.A9T Substitution - Missense 11:46548356-46548356 - 2292381 COSM4610041 c.2621G>A p.R874K Substitution - Missense 11:46433559-46433559 - TCGA-AP-A0LM-01 COSM927202 c.2225G>A p.R742H Substitution - Missense 11:46508305-46508305 - CSCC-31-T COSM4516924 c.2252-1_2252GG>AA p.? Unknown 11:46443598-46443599 - OV207 COSM252341 c.677G>A p.R226H Substitution - Missense 11:46543340-46543340 - LS174T COSM4645774 c.580T>C p.Y194H Substitution - Missense 11:46544013-46544013 - TCGA-A8-A09Z-01 COSM3809274 c.2822-2A>G p.? Unknown 11:46433630-46433630 - LUAD-NYU408 COSM374028 c.1560A>G p.P520P Substitution - coding silent 11:46542187-46542187 - I2L-P19Tb-Tumor-Biopsy COSM5360729 c.1776G>T p.E592D Substitution - Missense 11:46541971-46541971 - TCGA-AP-A0LF-01 COSM927200 c.2892G>C p.R964S Substitution - Missense 11:46433558-46433558 - TCGA-D1-A17Q-01 COSM927225 c.650G>T p.G217V Substitution - Missense 11:46543367-46543367 - YUGOE COSM1703848 c.2729C>T p.P910L Substitution - Missense 11:46418030-46418030 - C058 COSM1980467 c.3549C>T p.I1183I Substitution - coding silent 11:46397798-46397798 - T3724 COSM4661347 c.1246G>T p.G416* Substitution - Nonsense 11:46542771-46542771 - B96-Tumor COSM1756752 c.1747G>A p.E583K Substitution - Missense 11:46542000-46542000 - TCGA-BR-A4QL-01 COSM189529 c.3311C>T p.T1104M Substitution - Missense 11:46397766-46397766 - L07 COSM1980602 c.992G>A p.R331Q Substitution - Missense 11:46542755-46542755 - CAL27 COSM1980494 c.2803G>A p.A935T Substitution - Missense 11:46417956-46417956 - TC32 COSM4574380 c.3474G>T p.L1158L Substitution - coding silent 11:46397603-46397603 - KM12 COSM1675961 c.3083C>T p.T1028I Substitution - Missense 11:46408563-46408563 - TCGA-D8-A1X6-01 COSM1475449 c.3582C>T p.S1194S Substitution - coding silent 11:46397495-46397495 - CDGLIV0504A0086_T COSM4033011 c.1533G>T p.Q511H Substitution - Missense 11:46542214-46542214 - TCGA-06-2570-01 COSM2153107 c.344G>T p.C115F Substitution - Missense 11:46547147-46547147 - TCGA-D1-A0ZZ-01 COSM927212 c.1918C>T p.P640S Substitution - Missense 11:46542099-46542099 - TCGA-G9-6377-01 COSM3782628 c.102A>T p.E34D Substitution - Missense 11:46548279-46548279 - TCGA-DK-A3IQ-01 COSM1298067 c.549C>G p.V183V Substitution - coding silent 11:46545606-46545606 - EGC15 COSM5050834 c.1867G>A p.E623K Substitution - Missense 11:46542150-46542150 - T39 COSM5341527 c.1995C>T p.S665S Substitution - coding silent 11:46542022-46542022 - TCGA-CD-8529-01 COSM4033001 c.3192G>T p.L1064L Substitution - coding silent 11:46397885-46397885 - TCGA-EE-A180-06 COSM3869190 c.1540C>T p.Q514* Substitution - Nonsense 11:46542477-46542477 - T276 COSM4661343 c.3534C>T p.F1178F Substitution - coding silent 11:46397813-46397813 - HX12T COSM1604569 c.2827A>G p.N943D Substitution - Missense 11:46433623-46433623 - TCGA-AM-5820-01 COSM3687318 c.2150G>T p.R717M Substitution - Missense 11:46494124-46494124 - 102 COSM5014993 c.3157A>T p.S1053C Substitution - Missense 11:46397920-46397920 - EGC15 COSM5050833 c.1597G>A p.E533K Substitution - Missense 11:46542150-46542150 - YUROL COSM5372504 c.3467C>A p.P1156Q Substitution - Missense 11:46397610-46397610 - TCGA-25-1317-01 COSM77250 c.2768C>G p.S923C Substitution - Missense 11:46417991-46417991 - TCGA-AN-A0FW-01 COSM429013 c.3268C>T p.L1090F Substitution - Missense 11:46408648-46408648 - sysucc-966T COSM5487017 c.1312C>T p.Q438* Substitution - Nonsense 11:46542435-46542435 - CHC320T COSM1980652 c.319A>G p.I107V Substitution - Missense 11:46547172-46547172 - TCGA-EE-A29N-06 COSM3447597 c.2056G>A p.E686K Substitution - Missense 11:46541961-46541961 - PTC_448 COSM1703849 c.2999C>T p.P1000L Substitution - Missense 11:46418030-46418030 - TCGA-DM-A28C-01 COSM1353969 c.574G>T p.G192* Substitution - Nonsense 11:46544019-46544019 - TCGA-EE-A3J5-06 COSM3447590 c.3034C>T p.Q1012* Substitution - Nonsense 11:46408612-46408612 - Pat_41_B COSM5838599 c.2065C>T p.L689F Substitution - Missense 11:46541952-46541952 - TCGA-A8-A0A7-01 COSM429016 c.1290G>A p.L430L Substitution - coding silent 11:46542457-46542457 - TCGA-ER-A193-06 COSM3447624 c.425C>T p.S142F Substitution - Missense 11:46545730-46545730 - TCGA-AA-A01I-01 COSM299858 c.3720delG p.R1241fs*32 Deletion - Frameshift 11:46397627-46397627 - OSCC-GB_00610111 COSM4886712 c.3732C>A p.T1244T Substitution - coding silent 11:46397615-46397615 - TCGA-CM-6171-01 COSM1353959 c.1678C>A p.L560M Substitution - Missense 11:46542339-46542339 - TCGA-AR-A255-01 COSM1475451 c.1297G>T p.E433* Substitution - Nonsense 11:46542450-46542450 - TCGA-ES-A2HS-01 COSM4910399 c.77A>G p.Q26R Substitution - Missense 11:46548304-46548304 - TCGA-EE-A2GJ-06 COSM3447628 c.269C>T p.S90F Substitution - Missense 11:46547222-46547222 - 169 COSM3729514 c.500G>A p.R167Q Substitution - Missense 11:46545655-46545655 - TCGA-F1-6874-01 COSM4033006 c.3109C>T p.R1037* Substitution - Nonsense 11:46417920-46417920 - TCGA-CM-5861-01 COSM1353953 c.2422C>T p.R808C Substitution - Missense 11:46493707-46493707 - TCGA-EE-A29P-06 COSM3447584 c.3341C>T p.S1114F Substitution - Missense 11:46397736-46397736 - TCGA-D1-A0ZZ-01 COSM927210 c.2012C>G p.S671* Substitution - Nonsense 11:46542005-46542005 - TCGA-BR-4292-01 COSM4033016 c.1310C>T p.P437L Substitution - Missense 11:46542707-46542707 - C135 COSM4617124 c.3516C>T p.S1172S Substitution - coding silent 11:46397561-46397561 - CSCC-31-T COSM4490726 c.3676C>T p.L1226L Substitution - coding silent 11:46397671-46397671 - YUSMI COSM5372508 c.1544_1545CC>TT p.S515F Substitution - Missense 11:46542202-46542203 - HCC063T COSM5812118 c.121A>T p.K41* Substitution - Nonsense 11:46548260-46548260 - 2492709 COSM5718403 c.3104C>T p.P1035L Substitution - Missense 11:46408542-46408542 - Pat_16_A COSM5838607 c.290C>T p.T97I Substitution - Missense 11:46547201-46547201 - 2492723 COSM1980504 c.2626C>T p.L876L Substitution - coding silent 11:46433554-46433554 - PD4120a COSM159038 c.2187G>A p.Q729Q Substitution - coding silent 11:46508343-46508343 - U2940 COSM5620257 c.3283C>T p.P1095S Substitution - Missense 11:46408633-46408633 - TCGA-06-2570 COSM2153106 c.344G>T p.C115F Substitution - Missense 11:46547147-46547147 - ESO-085 COSM1244887 c.765G>T p.Q255H Substitution - Missense 11:46543252-46543252 - TCGA-BR-4362-01 COSM4032999 c.3200A>G p.E1067G Substitution - Missense 11:46397877-46397877 - 401 COSM4429552 c.1931A>G p.Y644C Substitution - Missense 11:46508329-46508329 - TCGA-D1-A16D-01 COSM927234 c.113G>A p.R38Q Substitution - Missense 11:46548268-46548268 - TCGA-A5-A0GA-01 COSM927228 c.294A>G p.P98P Substitution - coding silent 11:46547197-46547197 - B66 COSM1746253 c.347T>C p.L116P Substitution - Missense 11:46547144-46547144 - pfg143T COSM4754318 c.1838G>A p.R613H Substitution - Missense 11:46512778-46512778 - CSCC-31-T COSM4490725 c.3406C>T p.L1136L Substitution - coding silent 11:46397671-46397671 - TCGA-CM-5861-01 COSM1353952 c.2152C>T p.R718C Substitution - Missense 11:46493707-46493707 - 410 COSM4430821 c.881G>A p.R294H Substitution - Missense 11:46542866-46542866 - PD4120a COSM159037 c.1917G>A p.Q639Q Substitution - coding silent 11:46508343-46508343 - BD54T COSM5501922 c.697C>G p.P233A Substitution - Missense 11:46543320-46543320 - 102 COSM5014994 c.3427A>T p.S1143C Substitution - Missense 11:46397920-46397920 - TCGA-D9-A4Z3-01 COSM1980571 c.1699C>T p.R567C Substitution - Missense 11:46542318-46542318 - YUROL COSM5372505 c.3737C>A p.P1246Q Substitution - Missense 11:46397610-46397610 - P133 COSM41150 c.2617C>T p.R873* Substitution - Nonsense 11:46433563-46433563 - RK083_C01 COSM1627986 c.1739A>T p.D580V Substitution - Missense 11:46542278-46542278 - TCGA-D9-A3Z1-06 COSM3447612 c.762C>T p.I254I Substitution - coding silent 11:46543255-46543255 - J52_T COSM3979667 c.2729G>T p.S910I Substitution - Missense 11:46434941-46434941 - KM12 COSM1675962 c.3353C>T p.T1118I Substitution - Missense 11:46408563-46408563 - 2334192 COSM309083 c.3215G>A p.S1072N Substitution - Missense 11:46408701-46408701 - TCGA-B5-A11H-01 COSM927194 c.3851G>A p.S1284N Substitution - Missense 11:46397496-46397496 - 53M COSM4491204 c.3755C>T p.S1252F Substitution - Missense 11:46397592-46397592 - Pat_41_B COSM5838604 c.679G>A p.A227T Substitution - Missense 11:46543338-46543338 - CSCC-31-T COSM4466048 c.1413C>T p.S471S Substitution - coding silent 11:46542334-46542334 - 8031656 COSM1168724 c.329T>G p.L110R Substitution - Missense 11:46547162-46547162 - D28 COSM1980547 c.2259C>T p.L753L Substitution - coding silent 11:46508271-46508271 - PT37 COSM5920045 c.1031C>T p.S344F Substitution - Missense 11:46542716-46542716 - CAL27 COSM1980495 c.3073G>A p.A1025T Substitution - Missense 11:46417956-46417956 - TCGA-EE-A2GI-06 COSM3447607 c.1095G>A p.L365L Substitution - coding silent 11:46542922-46542922 - 2492721 COSM1980504 c.2626C>T p.L876L Substitution - coding silent 11:46433554-46433554 - CHEWS031 COSM4574379 c.3855G>A p.R1285R Substitution - coding silent 11:46397492-46397492 - HCC90 COSM1604571 c.1079A>G p.Q360R Substitution - Missense 11:46542938-46542938 - SS6003317 COSM3967520 c.3721C>T p.R1241W Substitution - Missense 11:46397626-46397626 - TCGA-A8-A0A7-01 COSM429017 c.1560G>A p.L520L Substitution - coding silent 11:46542457-46542457 - T1232 COSM4661351 c.14delC p.P5fs*29 Deletion - Frameshift 11:46548367-46548367 - 6115118 COSM5565793 c.831G>A p.R277R Substitution - coding silent 11:46542916-46542916 - ESO-859 COSM1238175 c.3398A>G p.E1133G Substitution - Missense 11:46397679-46397679 - SNU-175 COSM1980558 c.1886C>T p.A629V Substitution - Missense 11:46512730-46512730 - PCSI_0508_Pa_P_526 COSM4807691 c.2234C>T p.S745F Substitution - Missense 11:46508296-46508296 - TCGA-EE-A180-06 COSM3869189 c.1270C>T p.Q424* Substitution - Nonsense 11:46542477-46542477 - TCGA-AZ-6598-01 COSM1353956 c.1908C>T p.Y636Y Substitution - coding silent 11:46508352-46508352 - TCGA-D9-A3Z1-06 COSM3447613 c.762C>T p.I254I Substitution - coding silent 11:46543255-46543255 - TCGA-D8-A1XM-01 COSM1475453 c.219G>A p.V73V Substitution - coding silent 11:46547272-46547272 - KYSE-140 COSM4439261 c.915G>T p.L305F Substitution - Missense 11:46542832-46542832 - H1672 COSM309083 c.3215G>A p.S1072N Substitution - Missense 11:46408701-46408701 - COLO201 COSM1980599 c.1371C>T p.G457G Substitution - coding silent 11:46542646-46542646 - 587338 COSM1182665 c.3699G>A p.W1233* Substitution - Nonsense 11:46397648-46397648 - 35M COSM5580196 c.821C>T p.P274L Substitution - Missense 11:46543196-46543196 - TCGA-D3-A1QB-06 COSM3447602 c.937C>T p.P313S Substitution - Missense 11:46542810-46542810 - LUAD-RT-S01831 COSM392313 c.2367delC p.V790fs*1 Deletion - Frameshift 11:46435033-46435033 - RK076_C01 COSM3700075 c.2515C>T p.L839L Substitution - coding silent 11:46493614-46493614 - TCGA-G9-6377-01 COSM3782627 c.102A>T p.E34D Substitution - Missense 11:46548279-46548279 - TCGA-GV-A3JZ-01 COSM1298063 c.2279C>G p.S760C Substitution - Missense 11:46508251-46508251 - TCGA-B0-5711-01 COSM466827 c.502C>T p.R168W Substitution - Missense 11:46545653-46545653 - TCGA-DK-A3WW-01 COSM3791512 c.3897G>A p.*1299* Substitution - coding silent 11:46397450-46397450 - PCSI0023 COSM216753 c.2255G>A p.R752H Substitution - Missense 11:46508275-46508275 - CSCC-19-T COSM4491204 c.3755C>T p.S1252F Substitution - Missense 11:46397592-46397592 - TCGA-D9-A4Z3-01 COSM1980570 c.1429C>T p.R477C Substitution - Missense 11:46542318-46542318 - TCGA-EE-A2MR-06 COSM3447609 c.1042C>T p.P348S Substitution - Missense 11:46542975-46542975 - HCC6T COSM1604567 c.3057G>T p.E1019D Substitution - Missense 11:46417972-46417972 - TCGA-EE-A2GP-06 COSM3447601 c.1436C>T p.T479I Substitution - Missense 11:46542581-46542581 - TCGA-GV-A3JZ-01 COSM1298062 c.2009C>G p.S670C Substitution - Missense 11:46508251-46508251 - TCGA-A2-A0T5-01 COSM3809280 c.437A>C p.H146P Substitution - Missense 11:46545718-46545718 - sysucc-1370T COSM5469608 c.8T>A p.V3D Substitution - Missense 11:46548373-46548373 - TCGA-F1-6874-01 COSM4033005 c.2839C>T p.R947* Substitution - Nonsense 11:46417920-46417920 - YUKSI COSM4484219 c.2774C>T p.S925F Substitution - Missense 11:46434896-46434896 - TCGA-EI-6917-01 COSM3415881 c.676C>T p.R226C Substitution - Missense 11:46543341-46543341 - BD115T COSM5500705 c.2251+2T>C p.? Unknown 11:46493606-46493606 - 2492709 COSM5718404 c.3374C>T p.P1125L Substitution - Missense 11:46408542-46408542 - TCGA-EE-A2GJ-06 COSM3447604 c.853C>T p.Q285* Substitution - Nonsense 11:46542894-46542894 - 41T COSM3710299 c.2544G>A p.Q848Q Substitution - coding silent 11:46443576-46443576 - RK076_C01 COSM3700074 c.2245C>T p.L749L Substitution - coding silent 11:46493614-46493614 - OSCC-GB_00610111 COSM4886711 c.3462C>A p.T1154T Substitution - coding silent 11:46397615-46397615 - GC_296T1-GC_296N COSM4772173 c.2350G>A p.D784N Substitution - Missense 11:46494194-46494194 - RK337_C01 COSM4943423 c.3242C>A p.T1081N Substitution - Missense 11:46397835-46397835 - TCGA-BH-A0HK-01 COSM429018 c.444G>A p.T148T Substitution - coding silent 11:46545711-46545711 - TCGA-EK-A2R8-01 COSM4822881 c.1937C>G p.S646* Substitution - Nonsense 11:46508323-46508323 - TCGA-ES-A2HS-01 COSM4910398 c.77A>G p.Q26R Substitution - Missense 11:46548304-46548304 - L07 COSM1980603 c.1262G>A p.R421Q Substitution - Missense 11:46542755-46542755 - TCGA-CD-8536-01 COSM4033026 c.378+1G>A p.? Unknown 11:46547112-46547112 - HT115 COSM1980498 c.2747G>A p.R916Q Substitution - Missense 11:46418012-46418012 - I2L-P19Tb-Tumor-Organoid COSM5360730 c.2046G>T p.E682D Substitution - Missense 11:46541971-46541971 - BK0008 COSM4185710 c.1375C>A p.Q459K Substitution - Missense 11:46542642-46542642 - 401 COSM4429553 c.2201A>G p.Y734C Substitution - Missense 11:46508329-46508329 - HCT-15 COSM1675960 c.3651G>T p.E1217D Substitution - Missense 11:46397696-46397696 - TCGA-EE-A29N-06 COSM3447596 c.1786G>A p.E596K Substitution - Missense 11:46541961-46541961 - LIM2551 COSM1980558 c.1886C>T p.A629V Substitution - Missense 11:46512730-46512730 - PT48 COSM3447625 c.425C>T p.S142F Substitution - Missense 11:46545730-46545730 - TCGA-FG-A4MU-01 COSM3967520 c.3721C>T p.R1241W Substitution - Missense 11:46397626-46397626 - T1154 COSM4661348 c.992delC p.P331fs*35 Deletion - Frameshift 11:46543025-46543025 - TCGA-AP-A059-01 COSM927196 c.3782C>T p.P1261L Substitution - Missense 11:46397565-46397565 - CHC320T COSM1980653 c.319A>G p.I107V Substitution - Missense 11:46547172-46547172 - GC_296T1-GC_296N COSM4772172 c.2080G>A p.D694N Substitution - Missense 11:46494194-46494194 - TCGA-EE-A2ML-06 COSM3447617 c.640C>T p.P214S Substitution - Missense 11:46543377-46543377 - Gp2D COSM4626823 c.1754A>G p.E585G Substitution - Missense 11:46542263-46542263 - TCGA-AR-A1AH-01 COSM429010 c.3338C>A p.T1113N Substitution - Missense 11:46397739-46397739 - HCC148T COSM3666324 c.319A>C p.I107L Substitution - Missense 11:46547172-46547172 - B109 COSM1756755 c.1705C>T p.R569C Substitution - Missense 11:46542312-46542312 - TCGA-BR-8487-01 COSM4033024 c.450G>A p.Q150Q Substitution - coding silent 11:46545705-46545705 - PD13753a COSM5770476 c.864C>T p.I288I Substitution - coding silent 11:46543153-46543153 - TCGA-AZ-4315-01 COSM1353954 c.2065T>G p.F689V Substitution - Missense 11:46508195-46508195 - CSCC-10-T COSM4453374 c.2563A>G p.I855V Substitution - Missense 11:46433617-46433617 - sysucc-1370T COSM5469607 c.3419A>G p.Y1140C Substitution - Missense 11:46397928-46397928 - TCGA-CJ-4903-01 COSM466825 c.1720T>C p.S574P Substitution - Missense 11:46542027-46542027 - LUAD-RT-S01831 COSM392314 c.2637delC p.V880fs*1 Deletion - Frameshift 11:46435033-46435033 - 9227_T COSM5042122 c.25G>A p.A9T Substitution - Missense 11:46548356-46548356 - C709 COSM3447622 c.470C>T p.A157V Substitution - Missense 11:46545685-46545685 - TCGA-AP-A05P-01 COSM927192 c.3875G>A p.R1292K Substitution - Missense 11:46397472-46397472 - TCGA-Q1-A73P-01 COSM4825850 c.982G>C p.E328Q Substitution - Missense 11:46542765-46542765 - BD115T COSM5500706 c.2521+2T>C p.? Unknown 11:46493606-46493606 - TCGA-G3-A25S-01 COSM4926687 c.3078A>G p.T1026T Substitution - coding silent 11:46408568-46408568 - TCGA-AZ-6598-01 COSM1353957 c.2178C>T p.Y726Y Substitution - coding silent 11:46508352-46508352 - 53M COSM4491203 c.3485C>T p.S1162F Substitution - Missense 11:46397592-46397592 - TCGA-BH-A0HF-01 COSM3809275 c.1503C>A p.Y501* Substitution - Nonsense 11:46542244-46542244 - TCGA-BR-4368-01 COSM4033017 c.979T>G p.S327A Substitution - Missense 11:46542768-46542768 - S01861 COSM5670982 c.3867A>T p.A1289A Substitution - coding silent 11:46397480-46397480 - HT115 COSM1980499 c.3017G>A p.R1006Q Substitution - Missense 11:46418012-46418012 - TCGA-BR-4184-01 COSM1980459 c.3670C>T p.R1224* Substitution - Nonsense 11:46397677-46397677 - TCGA-EE-A2MJ-06 COSM3447587 c.3554G>A p.S1185N Substitution - Missense 11:46397793-46397793 - TCGA-HT-A614-01 COSM3967521 c.2886G>C p.L962L Substitution - coding silent 11:46410329-46410329 - TCGA-D8-A1JA-01 COSM3809278 c.1560G>C p.L520L Substitution - coding silent 11:46542457-46542457 - TCGA-EP-A26S-01 COSM4913468 c.2667C>A p.F889L Substitution - Missense 11:46433513-46433513 - PD4203a COSM159036 c.998C>G p.S333C Substitution - Missense 11:46543019-46543019 - TCGA-BR-4292-01 COSM4033015 c.1040C>T p.P347L Substitution - Missense 11:46542707-46542707 - C135 COSM4617126 c.2078G>A p.G693D Substitution - Missense 11:46494196-46494196 - WA16 COSM238770 c.443C>T p.T148M Substitution - Missense 11:46545712-46545712 - B104-0 COSM1746251 c.408C>G p.S136R Substitution - Missense 11:46545747-46545747 - TCGA-A2-A0T5-01 COSM3809279 c.437A>C p.H146P Substitution - Missense 11:46545718-46545718 - sysucc-1370T COSM5469609 c.8T>A p.V3D Substitution - Missense 11:46548373-46548373 - T39 COSM5341526 c.1725C>T p.S575S Substitution - coding silent 11:46542022-46542022 - TCGA-B5-A11E-01 COSM927229 c.284G>A p.R95H Substitution - Missense 11:46547207-46547207 - ME043T COSM228551 c.1090C>T p.L364F Substitution - Missense 11:46542927-46542927 - 169 COSM3729515 c.500G>A p.R167Q Substitution - Missense 11:46545655-46545655 - TCGA-DK-A3WW-01 COSM3791511 c.3627G>A p.*1209* Substitution - coding silent 11:46397450-46397450 - 2334192 COSM309082 c.2945G>A p.S982N Substitution - Missense 11:46408701-46408701 - PT48 COSM3447624 c.425C>T p.S142F Substitution - Missense 11:46545730-46545730 - BK0008 COSM4185709 c.1105C>A p.Q369K Substitution - Missense 11:46542642-46542642 - Pat_16_B COSM5838606 c.494G>A p.W165* Substitution - Nonsense 11:46545661-46545661 - TCGA-AR-A1AH-01 COSM429011 c.3608C>A p.T1203N Substitution - Missense 11:46397739-46397739 - C135 COSM4617127 c.2348G>A p.G783D Substitution - Missense 11:46494196-46494196 - TCGA-06-2570 COSM2153107 c.344G>T p.C115F Substitution - Missense 11:46547147-46547147 - TCGA-60-2710-01 COSM688044 c.3479C>A p.S1160Y Substitution - Missense 11:46397598-46397598 - KYSE-150 COSM1980560 c.1843G>A p.D615N Substitution - Missense 11:46512773-46512773 - TCGA-DM-A28C-01 COSM1353966 c.575G>T p.G192V Substitution - Missense 11:46544018-46544018 - CSCC-11-T COSM4484219 c.2774C>T p.S925F Substitution - Missense 11:46434896-46434896 - TCGA-BR-6566-01 COSM4033008 c.2590T>C p.W864R Substitution - Missense 11:46443530-46443530 - CSCC-27-T COSM4484823 c.2849C>T p.S950F Substitution - Missense 11:46433601-46433601 - CSCC-42-T COSM4491253 c.3493C>T p.P1165S Substitution - Missense 11:46397584-46397584 - HCC90 COSM1604570 c.809A>G p.Q270R Substitution - Missense 11:46542938-46542938 - TCGA-CD-A4MI-01 COSM4033010 c.2236A>G p.M746V Substitution - Missense 11:46508294-46508294 - TCGA-AA-3492-01 COSM1353965 c.628G>A p.E210K Substitution - Missense 11:46543389-46543389 - TCGA-AZ-6601-01 COSM1353972 c.14C>T p.P5L Substitution - Missense 11:46548367-46548367 - TCGA-BS-A0U8-01 COSM927224 c.711G>A p.T237T Substitution - coding silent 11:46543306-46543306 - TCGA-CJ-4903-01 COSM466826 c.1990T>C p.S664P Substitution - Missense 11:46542027-46542027 - TCGA-BR-A4QL-01 COSM189530 c.3581C>T p.T1194M Substitution - Missense 11:46397766-46397766 - T3658 COSM4661340 c.3615A>T p.P1205P Substitution - coding silent 11:46397462-46397462 - TCGA-CG-5721-01 COSM4033019 c.968G>T p.G323V Substitution - Missense 11:46542779-46542779 - NYU647 COSM4770986 c.172T>G p.L58V Substitution - Missense 11:46547839-46547839 - PCSI_0023_Pa_P COSM216753 c.2255G>A p.R752H Substitution - Missense 11:46508275-46508275 - TCGA-A8-A075-01 COSM5198827 c.3495delC p.I1166fs*17 Deletion - Frameshift 11:46397582-46397582 - TCGA-EE-A2MT-06 COSM3447611 c.763C>T p.Q255* Substitution - Nonsense 11:46543254-46543254 - TCGA-DC-5337-01 COSM1561396 c.710C>T p.T237M Substitution - Missense 11:46543307-46543307 - TCGA-ER-A19P-06 COSM3447599 c.1783G>C p.E595Q Substitution - Missense 11:46542234-46542234 - PT37 COSM5920046 c.1301C>T p.S434F Substitution - Missense 11:46542716-46542716 - SNU-175 COSM1980559 c.2156C>T p.A719V Substitution - Missense 11:46512730-46512730 - Pat_41_B COSM5838603 c.679G>A p.A227T Substitution - Missense 11:46543338-46543338 - CSCC-44-T COSM4555229 c.646G>C p.D216H Substitution - Missense 11:46543371-46543371 - 255 COSM3732189 c.112C>T p.R38W Substitution - Missense 11:46548269-46548269 - TCGA-AN-A0FL-01 COSM429008 c.3421G>C p.A1141P Substitution - Missense 11:46397656-46397656 - TCGA-EE-A2MR-06 COSM3447608 c.772C>T p.P258S Substitution - Missense 11:46542975-46542975 - TCGA-CD-A4MI-01 COSM4033009 c.1966A>G p.M656V Substitution - Missense 11:46508294-46508294 - TC32 COSM4574381 c.3744G>T p.L1248L Substitution - coding silent 11:46397603-46397603 - NYU647 COSM4770987 c.172T>G p.L58V Substitution - Missense 11:46547839-46547839 - HCC2998 COSM4631493 c.1487G>A p.R496H Substitution - Missense 11:46542530-46542530 - 2492708 COSM5718403 c.3104C>T p.P1035L Substitution - Missense 11:46408542-46408542 - PT44 COSM5926749 c.2476C>T p.P826S Substitution - Missense 11:46434924-46434924 - TCGA-D1-A0ZZ-01 COSM927209 c.1742C>G p.S581* Substitution - Nonsense 11:46542005-46542005 - TCGA-06-2570-01 COSM2153106 c.344G>T p.C115F Substitution - Missense 11:46547147-46547147 - TCGA-D1-A0ZZ-01 COSM927211 c.1648C>T p.P550S Substitution - Missense 11:46542099-46542099 - B109-Tumor COSM1756754 c.1435C>T p.R479C Substitution - Missense 11:46542312-46542312 - pfg008T COSM1638843 c.704G>A p.R235H Substitution - Missense 11:46543313-46543313 - Br11P COSM41150 c.2617C>T p.R873* Substitution - Nonsense 11:46433563-46433563 - CSCC-35-T COSM4488743 c.3097C>T p.P1033S Substitution - Missense 11:46408549-46408549 - ESCC_29 COSM5627438 c.1767_1768insT p.P590fs*2 Insertion - Frameshift 11:46541979-46541980 - TCGA-FV-A23B-01 COSM4914172 c.3798A>G p.P1266P Substitution - coding silent 11:46397549-46397549 - TCGA-CD-8536-01 COSM4033025 c.378+1G>A p.? Unknown 11:46547112-46547112 - CAL27 COSM1980566 c.1547T>C p.F516S Substitution - Missense 11:46542200-46542200 - HCT-15 COSM1675959 c.3381G>T p.E1127D Substitution - Missense 11:46397696-46397696 - OV207 COSM252342 c.677G>A p.R226H Substitution - Missense 11:46543340-46543340 - 6115118 COSM5565794 c.1101G>A p.R367R Substitution - coding silent 11:46542916-46542916 - TCGA-AP-A056-01 COSM927197 c.2664C>T p.V888V Substitution - coding silent 11:46433516-46433516 - TCGA-EB-A3Y6-01 COSM3447615 c.692C>T p.S231L Substitution - Missense 11:46543325-46543325 - OSCC-GB_01290111 COSM5955283 c.2644G>A p.E882K Substitution - Missense 11:46433536-46433536 - TCGA-C5-A2LS-01 COSM4856216 c.3252G>A p.L1084L Substitution - coding silent 11:46408664-46408664 - TCGA-AP-A059-01 COSM927195 c.3512C>T p.P1171L Substitution - Missense 11:46397565-46397565 - HCC063T COSM5812119 c.121A>T p.K41* Substitution - Nonsense 11:46548260-46548260 - CSCC-16-T COSM4529535 c.161G>A p.R54H Substitution - Missense 11:46547850-46547850 - TCGA-EE-A3AD-06 COSM3447582 c.3553A>G p.N1185D Substitution - Missense 11:46397524-46397524 - C709 COSM3447623 c.470C>T p.A157V Substitution - Missense 11:46545685-46545685 - CSCC-31-T COSM4466049 c.1683C>T p.S561S Substitution - coding silent 11:46542334-46542334 - TCGA-ER-A193-06 COSM3447625 c.425C>T p.S142F Substitution - Missense 11:46545730-46545730 - T3724 COSM4661346 c.976G>T p.G326* Substitution - Nonsense 11:46542771-46542771 - TCGA-60-2710-01 COSM688045 c.3749C>A p.S1250Y Substitution - Missense 11:46397598-46397598 - LUAD-5V8LT COSM401180 c.427C>G p.L143V Substitution - Missense 11:46545728-46545728 - TCGA-AA-3662-01 COSM1353950 c.2988C>T p.N996N Substitution - coding silent 11:46418041-46418041 - OSCC-GB_00410111 COSM3710298 c.2274G>A p.Q758Q Substitution - coding silent 11:46443576-46443576 - P133 COSM1353951 c.2887C>T p.R963* Substitution - Nonsense 11:46433563-46433563 - TCGA-D3-A1QB-06 COSM3447603 c.1207C>T p.P403S Substitution - Missense 11:46542810-46542810 - 2492720 COSM1980505 c.2896C>T p.L966L Substitution - coding silent 11:46433554-46433554 - TCGA-BR-8690-01 COSM4033004 c.3297G>A p.V1099V Substitution - coding silent 11:46408619-46408619 - TCGA-CM-6674-01 COSM1353961 c.1592A>T p.Q531L Substitution - Missense 11:46542425-46542425 - PGBM09PT COSM1580339 c.2707-1G>T p.? Unknown 11:46418053-46418053 - PGBM09PT COSM1580340 c.2977-1G>T p.? Unknown 11:46418053-46418053 - CSCC-44-T COSM4555228 c.646G>C p.D216H Substitution - Missense 11:46543371-46543371 - OSCC-GB_01290111 COSM5955284 c.2914G>A p.E972K Substitution - Missense 11:46433536-46433536 - TCGA-D3-A2JF-06 COSM3447627 c.328C>T p.L110F Substitution - Missense 11:46547163-46547163 - PCSI0023 COSM216752 c.1985G>A p.R662H Substitution - Missense 11:46508275-46508275 - TCGA-29-1774-01 COSM1321675 c.383G>T p.G128V Substitution - Missense 11:46545772-46545772 - TCGA-BR-8081-01 COSM1353951 c.2887C>T p.R963* Substitution - Nonsense 11:46433563-46433563 - 35M COSM5580198 c.3752C>T p.S1251F Substitution - Missense 11:46397595-46397595 - ESCC_87 COSM4430821 c.881G>A p.R294H Substitution - Missense 11:46542866-46542866 - KYSE-30 COSM4191794 c.3135T>C p.G1045G Substitution - coding silent 11:46397942-46397942 - TCGA-BR-8081-01 COSM41150 c.2617C>T p.R873* Substitution - Nonsense 11:46433563-46433563 - DLD1 COSM1675959 c.3381G>T p.E1127D Substitution - Missense 11:46397696-46397696 - C058 COSM1980466 c.3279C>T p.I1093I Substitution - coding silent 11:46397798-46397798 - TCGA-BH-A0HK-01 COSM429019 c.444G>A p.T148T Substitution - coding silent 11:46545711-46545711 - 2492710 COSM5718403 c.3104C>T p.P1035L Substitution - Missense 11:46408542-46408542 - TCGA-B5-A11E-01 COSM927208 c.2019G>T p.E673D Substitution - Missense 11:46541998-46541998 - A9 COSM1508225 c.1513G>A p.E505K Substitution - Missense 11:46542234-46542234 - TCGA-DU-A5TR-01 COSM3967523 c.1529G>A p.W510* Substitution - Nonsense 11:46542218-46542218 - TCGA-BR-4368-01 COSM4033018 c.1249T>G p.S417A Substitution - Missense 11:46542768-46542768 - TCGA-AM-5820-01 COSM3687319 c.2420G>T p.R807M Substitution - Missense 11:46494124-46494124 - TCGA-A8-A09Z-01 COSM3809273 c.2552-2A>G p.? Unknown 11:46433630-46433630 - Pat_16_A COSM5838608 c.290C>T p.T97I Substitution - Missense 11:46547201-46547201 - S01861 COSM5670981 c.3597A>T p.A1199A Substitution - coding silent 11:46397480-46397480 - OSCC-GB_01040111 COSM1980536 c.2104C>T p.R702C Substitution - Missense 11:46494170-46494170 - TCGA-D1-A0ZZ-01 COSM927214 c.1832C>A p.S611* Substitution - Nonsense 11:46542185-46542185 - TCGA-BR-8487-01 COSM4033023 c.450G>A p.Q150Q Substitution - coding silent 11:46545705-46545705 - TCGA-D1-A0ZZ-01 COSM927205 c.1793C>G p.S598* Substitution - Nonsense 11:46541954-46541954 - J52_T COSM3979666 c.2459G>T p.S820I Substitution - Missense 11:46434941-46434941 - CAL27 COSM1980567 c.1817T>C p.F606S Substitution - Missense 11:46542200-46542200 - CSCC-11-T COSM4484218 c.2504C>T p.S835F Substitution - Missense 11:46434896-46434896 - TCGA-A8-A09Z-01 COSM1980445 c.3859delG p.D1287fs*>12 Deletion - Frameshift 11:46397488-46397488 - Pat_41_B COSM5838598 c.1795C>T p.L599F Substitution - Missense 11:46541952-46541952 - TCGA-AP-A054-01 COSM927232 c.166A>G p.T56A Substitution - Missense 11:46547845-46547845 - TCGA-EK-A2RC-01 COSM4848630 c.103G>C p.D35H Substitution - Missense 11:46548278-46548278 - TCGA-B5-A11H-01 COSM927193 c.3581G>A p.S1194N Substitution - Missense 11:46397496-46397496 - TCGA-B5-A0JN-01 COSM927219 c.924_934del11 p.L309fs*3 Deletion - Frameshift 11:46542813-46542823 - HCC6T COSM1604566 c.2787G>T p.E929D Substitution - Missense 11:46417972-46417972 - TCGA-D1-A0ZZ-01 COSM927213 c.1562C>A p.S521* Substitution - Nonsense 11:46542185-46542185 - TCGA-A8-A09Z-01 COSM1980444 c.3589delG p.D1197fs*>12 Deletion - Frameshift 11:46397488-46397488 - TCGA-EE-A3AD-06 COSM3447583 c.3823A>G p.N1275D Substitution - Missense 11:46397524-46397524 - HCT15 COSM1675960 c.3651G>T p.E1217D Substitution - Missense 11:46397696-46397696 - 410 COSM4430822 c.1151G>A p.R384H Substitution - Missense 11:46542866-46542866 - TCGA-29-1774-01 COSM1321676 c.383G>T p.G128V Substitution - Missense 11:46545772-46545772 - 587234 COSM216753 c.2255G>A p.R752H Substitution - Missense 11:46508275-46508275 - TCGA-EE-A2MR-06 COSM3447616 c.640C>T p.P214S Substitution - Missense 11:46543377-46543377 - TCGA-CG-5726-01 COSM4032997 c.3265G>A p.G1089S Substitution - Missense 11:46397812-46397812 - TCGA-CM-6171-01 COSM1353958 c.1408C>A p.L470M Substitution - Missense 11:46542339-46542339 - RK028_C01 COSM3739065 c.2821+7G>A p.? Unknown 11:46434842-46434842 - TCGA-A8-A075-01 COSM5198828 c.3765delC p.I1256fs*17 Deletion - Frameshift 11:46397582-46397582 - TCGA-CG-5726-01 COSM4032998 c.3535G>A p.G1179S Substitution - Missense 11:46397812-46397812 - CSCC-42-T COSM4491254 c.3763C>T p.P1255S Substitution - Missense 11:46397584-46397584 - T276 COSM4661342 c.3264C>T p.F1088F Substitution - coding silent 11:46397813-46397813 - TCGA-D3-A51T-06 COSM3447621 c.508C>T p.P170S Substitution - Missense 11:46545647-46545647 - J38_T COSM3979665 c.2854A>G p.M952V Substitution - Missense 11:46433596-46433596 - S02093 COSM5673064 c.2904T>C p.T968T Substitution - coding silent 11:46410311-46410311 - TCGA-A4-A5Y1-01 COSM3986177 c.3675C>T p.G1225G Substitution - coding silent 11:46397672-46397672 - B96 COSM1756753 c.2017G>A p.E673K Substitution - Missense 11:46542000-46542000 - B104-0 COSM1746250 c.408C>G p.S136R Substitution - Missense 11:46545747-46545747 - SWE-1A COSM1179314 c.2300A>G p.N767S Substitution - Missense 11:46443550-46443550 - TCGA-CM-6674-01 COSM1353960 c.1322A>T p.Q441L Substitution - Missense 11:46542425-46542425 - TCGA-D1-A0ZZ-01 COSM927206 c.2063C>G p.S688* Substitution - Nonsense 11:46541954-46541954 - TCGA-CG-5721-01 COSM4033020 c.1238G>T p.G413V Substitution - Missense 11:46542779-46542779 - B104-0-Tumor COSM1746251 c.408C>G p.S136R Substitution - Missense 11:46545747-46545747 - BD72T COSM5512767 c.3363_3364delTC p.R1122fs*52 Deletion - Frameshift 11:46397713-46397714 - TCGA-B5-A0JR-01 COSM927216 c.1349_1350delTG p.V450fs*30 Deletion - Frameshift 11:46542667-46542668 - pfg008T COSM1638842 c.704G>A p.R235H Substitution - Missense 11:46543313-46543313 - J38_T COSM3979664 c.2584A>G p.M862V Substitution - Missense 11:46433596-46433596 - TCGA-BR-4362-01 COSM4033000 c.3470A>G p.E1157G Substitution - Missense 11:46397877-46397877 - LS174T COSM4645773 c.580T>C p.Y194H Substitution - Missense 11:46544013-46544013 - CSCC-17-T COSM4488948 c.3125C>T p.P1042L Substitution - Missense 11:46408521-46408521 - TCGA-G3-A25S-01 COSM4926688 c.3348A>G p.T1116T Substitution - coding silent 11:46408568-46408568 - TCGA-EI-6917-01 COSM3415882 c.676C>T p.R226C Substitution - Missense 11:46543341-46543341 - YUGOE COSM1703849 c.2999C>T p.P1000L Substitution - Missense 11:46418030-46418030 - TCGA-EB-A431-01 COSM3447623 c.470C>T p.A157V Substitution - Missense 11:46545685-46545685 - B22 COSM1756750 c.2401A>G p.N801D Substitution - Missense 11:46434999-46434999 - COLO205 COSM1980599 c.1371C>T p.G457G Substitution - coding silent 11:46542646-46542646 - CHC320T COSM1980653 c.319A>G p.I107V Substitution - Missense 11:46547172-46547172 - TCGA-BR-8690-01 COSM4033003 c.3027G>A p.V1009V Substitution - coding silent 11:46408619-46408619 - T3174 COSM4661350 c.46C>T p.R16* Substitution - Nonsense 11:46548335-46548335 - TCGA-DC-5337-01 COSM1561395 c.710C>T p.T237M Substitution - Missense 11:46543307-46543307 - TCGA-DK-A3IQ-01 COSM1298068 c.448C>T p.Q150* Substitution - Nonsense 11:46545707-46545707 - Gp2D COSM4626822 c.1484A>G p.E495G Substitution - Missense 11:46542263-46542263 - TCGA-EB-A3Y6-01 COSM3447614 c.692C>T p.S231L Substitution - Missense 11:46543325-46543325 - SW480 COSM4655525 c.3094G>A p.V1032M Substitution - Missense 11:46408552-46408552 - TCGA-CD-A487-01 COSM4033021 c.671G>A p.R224H Substitution - Missense 11:46543346-46543346 - TCGA-D1-A16J-01 COSM927221 c.929C>G p.S310C Substitution - Missense 11:46542818-46542818 - Co108 COSM50365 c.748C>T p.R250C Substitution - Missense 11:46543269-46543269 - TCGA-EE-A3AC-06 COSM3447594 c.1819T>C p.S607P Substitution - Missense 11:46512797-46512797 - BD72T COSM5512769 c.2380G>A p.V794M Substitution - Missense 11:46435020-46435020 - TCGA-EK-A2R8-01 COSM4822882 c.2207C>G p.S736* Substitution - Nonsense 11:46508323-46508323 - TCGA-HT-A614-01 COSM3967522 c.3156G>C p.L1052L Substitution - coding silent 11:46410329-46410329 - P111 COSM1736416 c.3050T>C p.L1017P Substitution - Missense 11:46417979-46417979 - 2492721 COSM1980505 c.2896C>T p.L966L Substitution - coding silent 11:46433554-46433554 - TCGA-GN-A26C-01 COSM3447592 c.2029C>T p.P677S Substitution - Missense 11:46508231-46508231 - CSCC-10-T COSM4453375 c.2833A>G p.I945V Substitution - Missense 11:46433617-46433617 - B22 COSM1756751 c.2671A>G p.N891D Substitution - Missense 11:46434999-46434999 - I2L-P19Tb-Tumor-Biopsy COSM5360730 c.2046G>T p.E682D Substitution - Missense 11:46541971-46541971 - 2492722 COSM1980505 c.2896C>T p.L966L Substitution - coding silent 11:46433554-46433554 - TCGA-AP-A054-01 COSM927231 c.166A>G p.T56A Substitution - Missense 11:46547845-46547845 - TCGA-D8-A1XM-01 COSM1475454 c.219G>A p.V73V Substitution - coding silent 11:46547272-46547272 - B96-Tumor COSM1756753 c.2017G>A p.E673K Substitution - Missense 11:46542000-46542000 - BD72T COSM5512772 c.2582G>A p.R861Q Substitution - Missense 11:46443538-46443538 - TCGA-EE-A2MJ-06 COSM3447586 c.3284G>A p.S1095N Substitution - Missense 11:46397793-46397793 - B104-0-Tumor COSM1746250 c.408C>G p.S136R Substitution - Missense 11:46545747-46545747 - TCGA-B5-A11U-01 COSM927201 c.1955G>A p.R652H Substitution - Missense 11:46508305-46508305 - ME001T COSM221772 c.953G>A p.R318Q Substitution - Missense 11:46543064-46543064 - TCGA-DM-A28C-01 COSM1353967 c.575G>T p.G192V Substitution - Missense 11:46544018-46544018 - 9210_T COSM5038745 c.1818_1822delTGAGA p.F606fs*16 Deletion - Frameshift 11:46542195-46542199 - TCGA-AP-A0LF-01 COSM927199 c.2622G>C p.R874S Substitution - Missense 11:46433558-46433558 - B109-Tumor COSM1756755 c.1705C>T p.R569C Substitution - Missense 11:46542312-46542312 - 9210_T COSM5038744 c.1548_1552delTGAGA p.F516fs*16 Deletion - Frameshift 11:46542195-46542199 - TCGA-HU-A4GT-01 COSM4033014 c.1376A>G p.Q459R Substitution - Missense 11:46542641-46542641 - B66 COSM1746252 c.347T>C p.L116P Substitution - Missense 11:46547144-46547144 - T3174 COSM4661349 c.46C>T p.R16* Substitution - Nonsense 11:46548335-46548335 - TCGA-BS-A0U8-01 COSM927223 c.711G>A p.T237T Substitution - coding silent 11:46543306-46543306 - HCC147T COSM5811632 c.3007C>T p.R1003W Substitution - Missense 11:46408639-46408639 - 2492708 COSM5718404 c.3374C>T p.P1125L Substitution - Missense 11:46408542-46408542 - CSCC-35-T COSM4488744 c.3367C>T p.P1123S Substitution - Missense 11:46408549-46408549 - CHEWS031 COSM4574378 c.3585G>A p.R1195R Substitution - coding silent 11:46397492-46397492 - TCGA-GN-A26C-01 COSM3447593 c.2299C>T p.P767S Substitution - Missense 11:46508231-46508231 - TCGA-EB-A5UL-06 COSM3447589 c.3421G>T p.G1141C Substitution - Missense 11:46397926-46397926 - TCGA-DK-A1A3-01 COSM415600 c.2976G>T p.M992I Substitution - Missense 11:46408670-46408670 - ME043T COSM228550 c.820C>T p.L274F Substitution - Missense 11:46542927-46542927 - TCGA-EE-A2GJ-06 COSM3447605 c.1123C>T p.Q375* Substitution - Nonsense 11:46542894-46542894 - TCGA-AN-A0FW-01 COSM429012 c.2998C>T p.L1000F Substitution - Missense 11:46408648-46408648 - 255 COSM3732190 c.112C>T p.R38W Substitution - Missense 11:46548269-46548269 - SW480 COSM4655526 c.3364G>A p.V1122M Substitution - Missense 11:46408552-46408552 - TCGA-DK-A2I6-01 COSM1298060 c.3590A>G p.D1197G Substitution - Missense 11:46397487-46397487 - TCGA-AZ-6601-01 COSM1353973 c.14C>T p.P5L Substitution - Missense 11:46548367-46548367 - PTC_448 COSM1703848 c.2729C>T p.P910L Substitution - Missense 11:46418030-46418030 - T3090 COSM4661344 c.1040delC p.P347fs*9 Deletion - Frameshift 11:46542707-46542707 - SWE-1A COSM1179315 c.2570A>G p.N857S Substitution - Missense 11:46443550-46443550 - TCGA-AP-A056-01 COSM927198 c.2934C>T p.V978V Substitution - coding silent 11:46433516-46433516 - B22-Tumor COSM1756751 c.2671A>G p.N891D Substitution - Missense 11:46434999-46434999 - TCGA-60-2726-01 COSM688043 c.3149A>G p.D1050G Substitution - Missense 11:46410336-46410336 - 2492723 COSM1980505 c.2896C>T p.L966L Substitution - coding silent 11:46433554-46433554 - TCGA-A6-5661-01 COSM5826966 c.3117-3delT p.? Unknown 11:46410371-46410371 - A9 COSM1508226 c.1783G>A p.E595K Substitution - Missense 11:46542234-46542234 - P111 COSM1736415 c.2780T>C p.L927P Substitution - Missense 11:46417979-46417979 - TCGA-EP-A26S-01 COSM4913469 c.2937C>A p.F979L Substitution - Missense 11:46433513-46433513 - PT34 COSM3447628 c.269C>T p.S90F Substitution - Missense 11:46547222-46547222 - CH-103-T2 COSM5650437 c.613C>T p.Q205* Substitution - Nonsense 11:46543980-46543980 - T3090 COSM4661345 c.1310delC p.P437fs*9 Deletion - Frameshift 11:46542707-46542707 - B96 COSM1756752 c.1747G>A p.E583K Substitution - Missense 11:46542000-46542000 - sysucc-966T COSM5487018 c.1582C>T p.Q528* Substitution - Nonsense 11:46542435-46542435 - LIM2551 COSM1980559 c.2156C>T p.A719V Substitution - Missense 11:46512730-46512730 - CHC320T COSM1980652 c.319A>G p.I107V Substitution - Missense 11:46547172-46547172 - OSCC-GB_01040111 COSM1980537 c.2374C>T p.R792C Substitution - Missense 11:46494170-46494170 - TCGA-B5-A11E-01 COSM927207 c.1749G>T p.E583D Substitution - Missense 11:46541998-46541998 - TCGA-DK-A1AC-01 COSM1298065 c.1806C>T p.V602V Substitution - coding silent 11:46542211-46542211 - U2940 COSM5620256 c.3013C>T p.P1005S Substitution - Missense 11:46408633-46408633 - T3658 COSM4661341 c.3885A>T p.P1295P Substitution - coding silent 11:46397462-46397462 - TCGA-EB-A431-01 COSM3447622 c.470C>T p.A157V Substitution - Missense 11:46545685-46545685 - TCGA-AA-3662-01 COSM1353949 c.2718C>T p.N906N Substitution - coding silent 11:46418041-46418041 - YUROL COSM5372506 c.2199A>G p.E733E Substitution - coding silent 11:46493660-46493660 - ESO-085 COSM1244888 c.765G>T p.Q255H Substitution - Missense 11:46543252-46543252 - YUSMI COSM5372509 c.1814_1815CC>TT p.S605F Substitution - Missense 11:46542202-46542203 - WA16 COSM238769 c.443C>T p.T148M Substitution - Missense 11:46545712-46545712 - D28 COSM1980546 c.1989C>T p.L663L Substitution - coding silent 11:46508271-46508271 - TCGA-A4-A5Y1-01 COSM3986176 c.3405C>T p.G1135G Substitution - coding silent 11:46397672-46397672 - pfg008T COSM1638842 c.704G>A p.R235H Substitution - Missense 11:46543313-46543313 - 2292381 COSM4610042 c.2891G>A p.R964K Substitution - Missense 11:46433559-46433559 - YUKSI COSM4484218 c.2504C>T p.S835F Substitution - Missense 11:46434896-46434896 - TCGA-D1-A16D-01 COSM927233 c.113G>A p.R38Q Substitution - Missense 11:46548268-46548268 - B66-Tumor COSM1746253 c.347T>C p.L116P Substitution - Missense 11:46547144-46547144 - TCGA-AN-A0FL-01 COSM429009 c.3691G>C p.A1231P Substitution - Missense 11:46397656-46397656 - HCC148 COSM3666325 c.319A>C p.I107L Substitution - Missense 11:46547172-46547172 - TCGA-DK-A2I6-01 COSM1298061 c.3860A>G p.D1287G Substitution - Missense 11:46397487-46397487 - COLO205 COSM1980598 c.1101C>T p.G367G Substitution - coding silent 11:46542646-46542646 - TCGA-AP-A0LM-01 COSM927201 c.1955G>A p.R652H Substitution - Missense 11:46508305-46508305 - TCGA-CD-8529-01 COSM4033002 c.3462G>T p.L1154L Substitution - coding silent 11:46397885-46397885 - TCGA-EE-A2A6-06 COSM3447619 c.558G>A p.V186V Substitution - coding silent 11:46544035-46544035 - C135 COSM4617125 c.3786C>T p.S1262S Substitution - coding silent 11:46397561-46397561 - HCT15 COSM1675959 c.3381G>T p.E1127D Substitution - Missense 11:46397696-46397696 - PT44 COSM5926750 c.2746C>T p.P916S Substitution - Missense 11:46434924-46434924 - TCGA-BR-4292-01 COSM4033028 c.227A>C p.N76T Substitution - Missense 11:46547264-46547264 - TCGA-EE-A2MR-06 COSM3447617 c.640C>T p.P214S Substitution - Missense 11:46543377-46543377 - TCGA-EE-A2MT-06 COSM3447610 c.763C>T p.Q255* Substitution - Nonsense 11:46543254-46543254 - TCGA-EE-A2A6-06 COSM3447618 c.558G>A p.V186V Substitution - coding silent 11:46544035-46544035 - TCGA-EE-A29P-06 COSM3447585 c.3611C>T p.S1204F Substitution - Missense 11:46397736-46397736 - TCGA-FV-A23B-01 COSM4914171 c.3528A>G p.P1176P Substitution - coding silent 11:46397549-46397549 - CSCC-16-T COSM4461699 c.1486C>T p.R496C Substitution - Missense 11:46542531-46542531 - I2L-P19Tb-Tumor-Organoid COSM5360729 c.1776G>T p.E592D Substitution - Missense 11:46541971-46541971 - Pat_16_B COSM5838605 c.494G>A p.W165* Substitution - Nonsense 11:46545661-46545661 - TCGA-CK-5916-01 COSM189605 c.1068G>A p.S356S Substitution - coding silent 11:46542949-46542949 - HCC2998 COSM4631492 c.1217G>A p.R406H Substitution - Missense 11:46542530-46542530 - pfg008T COSM1638843 c.704G>A p.R235H Substitution - Missense 11:46543313-46543313 - TCGA-B0-5711-01 COSM466828 c.502C>T p.R168W Substitution - Missense 11:46545653-46545653 - CSCC-10-T COSM4484218 c.2504C>T p.S835F Substitution - Missense 11:46434896-46434896 - 41T COSM3710298 c.2274G>A p.Q758Q Substitution - coding silent 11:46443576-46443576 - TCGA-CD-A4MG-01 COSM4033011 c.1533G>T p.Q511H Substitution - Missense 11:46542214-46542214 - TCGA-CD-A4MG-01 COSM4033012 c.1803G>T p.Q601H Substitution - Missense 11:46542214-46542214 - Au3 COSM5601012 c.822C>T p.P274P Substitution - coding silent 11:46543195-46543195 - Pat_44_B COSM5838602 c.871_872delCG p.R291fs*9 Deletion - Frameshift 11:46543145-46543146 - TCGA-CD-A487-01 COSM4033022 c.671G>A p.R224H Substitution - Missense 11:46543346-46543346 - LC_S11 COSM1188217 c.2876G>T p.W959L Substitution - Missense 11:46410339-46410339 - TCGA-EE-A3AC-06 COSM3447595 c.2089T>C p.S697P Substitution - Missense 11:46512797-46512797 - 2492710 COSM5718404 c.3374C>T p.P1125L Substitution - Missense 11:46408542-46408542 - TCGA-A5-A0GA-01 COSM927227 c.294A>G p.P98P Substitution - coding silent 11:46547197-46547197 - TCGA-BR-4184-01 COSM1980458 c.3400C>T p.R1134* Substitution - Nonsense 11:46397677-46397677 - TCGA-EE-A2GP-06 COSM3447600 c.1166C>T p.T389I Substitution - Missense 11:46542581-46542581 - HCC90T COSM1604571 c.1079A>G p.Q360R Substitution - Missense 11:46542938-46542938 - TCGA-A5-A0GP-01 COSM927218 c.1331C>T p.S444L Substitution - Missense 11:46542686-46542686 - KM12 COSM1675962 c.3353C>T p.T1118I Substitution - Missense 11:46408563-46408563 - TCGA-DK-A1A3-01 COSM415601 c.3246G>T p.M1082I Substitution - Missense 11:46408670-46408670 - 587234 COSM216752 c.1985G>A p.R662H Substitution - Missense 11:46508275-46508275 - KM12 COSM1675961 c.3083C>T p.T1028I Substitution - Missense 11:46408563-46408563 - Pat_16_A COSM5838605 c.494G>A p.W165* Substitution - Nonsense 11:46545661-46545661 - LUAD-NYU408 COSM374029 c.1830A>G p.P610P Substitution - coding silent 11:46542187-46542187 - BD72T COSM5512771 c.2312G>A p.R771Q Substitution - Missense 11:46443538-46443538 - TCGA-DK-A3IQ-01 COSM1298066 c.549C>G p.V183V Substitution - coding silent 11:46545606-46545606 - KYSE-140 COSM4439262 c.1185G>T p.L395F Substitution - Missense 11:46542832-46542832 - TCGA-BH-A0WA-01 COSM429015 c.1648A>C p.T550P Substitution - Missense 11:46542369-46542369 - TCGA-B5-A0JR-01 COSM927215 c.1079_1080delTG p.V360fs*30 Deletion - Frameshift 11:46542667-46542668 - B109 COSM1756754 c.1435C>T p.R479C Substitution - Missense 11:46542312-46542312 - SS6003317 COSM3967519 c.3451C>T p.R1151W Substitution - Missense 11:46397626-46397626 - OSCC-GB_00410111 COSM3710299 c.2544G>A p.Q848Q Substitution - coding silent 11:46443576-46443576 - T1232 COSM4661352 c.14delC p.P5fs*29 Deletion - Frameshift 11:46548367-46548367 - TCGA-D8-A1X6-01 COSM1475450 c.3852C>T p.S1284S Substitution - coding silent 11:46397495-46397495 - TCGA-60-2726-01 COSM688042 c.2879A>G p.D960G Substitution - Missense 11:46410336-46410336 - ESCC_29 COSM5627439 c.2037_2038insT p.P680fs*2 Insertion - Frameshift 11:46541979-46541980 - TCGA-EB-A5UL-06 COSM3447588 c.3151G>T p.G1051C Substitution - Missense 11:46397926-46397926 - PCSI_0023_Pa_P COSM216752 c.1985G>A p.R662H Substitution - Missense 11:46508275-46508275 - TCGA-Q1-A73P-01 COSM4825851 c.1252G>C p.E418Q Substitution - Missense 11:46542765-46542765 - DLD1 COSM1675960 c.3651G>T p.E1217D Substitution - Missense 11:46397696-46397696 - CSCC-10-T COSM4484219 c.2774C>T p.S925F Substitution - Missense 11:46434896-46434896 - TCGA-D8-A1JA-01 COSM3809277 c.1290G>C p.L430L Substitution - coding silent 11:46542457-46542457 - CDGLIV0504A0086_T COSM4033012 c.1803G>T p.Q601H Substitution - Missense 11:46542214-46542214 - TCGA-D3-A2JF-06 COSM3447626 c.328C>T p.L110F Substitution - Missense 11:46547163-46547163 - BD54T COSM5501921 c.697C>G p.P233A Substitution - Missense 11:46543320-46543320 - RK028_C01 COSM3739064 c.2551+7G>A p.? Unknown 11:46434842-46434842 - BD72T COSM5512768 c.3633_3634delTC p.R1212fs*52 Deletion - Frameshift 11:46397713-46397714 - TCGA-DJ-A3UT-01 COSM3368372 c.2850C>T p.S950S Substitution - coding silent 11:46433600-46433600 - TCGA-DJ-A3UT-01 COSM3368371 c.2580C>T p.S860S Substitution - coding silent 11:46433600-46433600 - TCGA-BR-6566-01 COSM4033007 c.2320T>C p.W774R Substitution - Missense 11:46443530-46443530 - Pat_16_A COSM5838606 c.494G>A p.W165* Substitution - Nonsense 11:46545661-46545661 - RK083_C01 COSM1627985 c.1469A>T p.D490V Substitution - Missense 11:46542278-46542278 - TCGA-BH-A0HF-01 COSM3809276 c.1773C>A p.Y591* Substitution - Nonsense 11:46542244-46542244 - 2492720 COSM1980504 c.2626C>T p.L876L Substitution - coding silent 11:46433554-46433554 - HCC147T COSM5811633 c.3277C>T p.R1093W Substitution - Missense 11:46408639-46408639 - TCGA-CK-5916-01 COSM189604 c.798G>A p.S266S Substitution - coding silent 11:46542949-46542949 - Pat_41_B COSM5838600 c.818G>A p.G273D Substitution - Missense 11:46542929-46542929 - ESO-859 COSM1238176 c.3668A>G p.E1223G Substitution - Missense 11:46397679-46397679 - TCGA-DK-A1AC-01 COSM1298064 c.1536C>T p.V512V Substitution - coding silent 11:46542211-46542211 - TCGA-AA-A01I-01 COSM299857 c.3450delG p.R1151fs*32 Deletion - Frameshift 11:46397627-46397627 - TCGA-D3-A51T-06 COSM3447620 c.508C>T p.P170S Substitution - Missense 11:46545647-46545647 - PT34 COSM3447629 c.269C>T p.S90F Substitution - Missense 11:46547222-46547222 - HCC90T COSM1604570 c.809A>G p.Q270R Substitution - Missense 11:46542938-46542938 - TCGA-A5-A0GP-01 COSM927217 c.1061C>T p.S354L Substitution - Missense 11:46542686-46542686 - 587338 COSM1182664 c.3429G>A p.W1143* Substitution - Nonsense 11:46397648-46397648 - TCGA-AX-A0J0-01 COSM927204 c.2215G>T p.D739Y Substitution - Missense 11:46508315-46508315 - TCGA-FG-A4MU-01 COSM3967519 c.3451C>T p.R1151W Substitution - Missense 11:46397626-46397626 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.654644 11p11.2 611359

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.S327A c.979T>G 11 46564318 STAD AG - Frameshift p.P912Rfs*17 c.2735_2736delCT 11 46439573 RCCC A G Missense p.L526S c.1577T>C 11 46563720 CM A G Missense p.S574P c.1720T>C 11 46563577 RCCC A G Missense p.S607P c.1819T>C 11 46534347 CM - A SpliceDonorInsertion . c.2846+2dupT 11 46439461 GBM C A 3-UTRSNV . c.3624+153G>T 11 46418850 DLBCL CA - Frameshift p.V360Afs*30 c.1079_1080delTG 11 46564217 UCEC C A IntronicSNV . c.766-104G>T 11 46564635 NB C A Missense p.C115F c.344G>T 11 46568697 GBM C A Missense p.D914Y c.2740G>T 11 46439569 HNSC C A Missense p.E1127D c.3381G>T 11 46419246 HNSC C A Missense p.G1068C c.3202G>T 11 46419425 STAD C A Missense p.Q255H c.765G>T 11 46564802 ESCA C A Missense p.R601M c.1802G>T 11 46563495 STAD C A Missense p.W1143C c.3429G>T 11 46419198 LUAD C A Nonsense p.E433* c.1297G>T 11 46564000 BRCA CC TT Missense p.R331Q c.992_993delinsAA 11 46564304 CM CC TT SpliceDonorBlockSubstitution . c.2362_2362+1delinsAA 11 46465037 CM C - Frameshift p.R1151Gfs*32 c.3450delG 11 46419177 COREAD C G Missense p.A1141P c.3421G>C 11 46419206 BRCA C G Missense p.E408Q c.1222G>C 11 46564075 MM C G Missense p.E505Q c.1513G>C 11 46563784 CM C G Missense p.R874S c.2622G>C 11 46455108 UCEC CTCCAGCCTG - Frameshift p.R541*fs*1 c.1620_1629delCAGGCTGGAG 11 46563668 BLCA C T IntronicSNV . c.2252-851G>A 11 46465999 PIA C T IntronicSNV . c.766-83G>A 11 46564614 CM C T Missense p.D216N c.646G>A 11 46564921 HNSC C T Missense p.E596K c.1786G>A 11 46563511 CM C T Missense p.G1089S c.3265G>A 11 46419362 STAD C T Missense p.M862I c.2586G>A 11 46455144 CM C T Missense p.R1202K c.3605G>A 11 46419022 UCEC C T Missense p.R235H c.704G>A 11 46564863 STAD C T Missense p.R38Q c.113G>A 11 46569818 UCEC C T Missense p.R652H c.1955G>A 11 46529855 UCEC C T Missense p.R662H c.1985G>A 11 46529825 PAAD C T Missense p.S1095N c.3284G>A 11 46419343 CM C T Missense p.S1194N c.3581G>A 11 46419046 UCEC C T Missense p.S982N c.2945G>A 11 46430251 SCLC C T Synonymous p.E723E c.2169G>A 11 46515240 STAD C T Synonymous p.L275L c.825G>A 11 46564472 CM C T Synonymous p.L430L c.1290G>A 11 46564007 BRCA C T Synonymous p.Q639Q c.1917G>A 11 46529893 BRCA C T Synonymous p.R902R c.2706G>A 11 46455024 MM C T Synonymous p.T148T c.444G>A 11 46567261 BRCA C T Synonymous p.T237T c.711G>A 11 46564856 UCEC C T Synonymous p.V186V c.558G>A 11 46565585 CM C T Synonymous p.V73V c.219G>A 11 46568822 BRCA G A IntronicSNV . c.2151-71C>T 11 46515329 CM G A IntronicSNV . c.2706+4573C>T 11 46450451 CM G A IntronicSNV . c.765+58C>T 11 46564744 CM G A IntronicSNV . c.766-123C>T 11 46564654 CM G A Missense p.L1000F c.2998C>T 11 46430198 BRCA G A Missense p.L110F c.328C>T 11 46568713 CM G A Missense p.L274F c.820C>T 11 46564477 CM G A Missense p.P214S c.640C>T 11 46564927 CM G A Missense p.P313S c.937C>T 11 46564360 CM G A Missense p.P347L c.1040C>T 11 46564257 STAD G A Missense p.P550S c.1648C>T 11 46563649 UCEC G A Missense p.P677S c.2029C>T 11 46529781 CM G A Missense p.P838L c.2513C>T 11 46456437 CM G A Missense p.R168W c.502C>T 11 46567203 RCCC G A Missense p.S1114F c.3341C>T 11 46419286 CM G A Missense p.S142F c.425C>T 11 46567280 CM G A Missense p.S221F c.662C>T 11 46564905 CM G A Missense p.S354L c.1061C>T 11 46564236 UCEC G A Missense p.S90F c.269C>T 11 46568772 CM G A Missense p.T389I c.1166C>T 11 46564131 CM G A Nonsense p.Q1012* c.3034C>T 11 46430162 CM G A Nonsense p.Q150* c.448C>T 11 46567257 BLCA G A Nonsense p.Q255* c.763C>T 11 46564804 CM G A Nonsense p.Q285* c.853C>T 11 46564444 CM G A Nonsense p.Q410* c.1228C>T 11 46564069 HNSC G A Nonsense p.Q424* c.1270C>T 11 46564027 CM G A Nonsense p.Q887* c.2659C>T 11 46455071 LUAD G A Nonsense p.R1134* c.3400C>T 11 46419227 STAD G A Nonsense p.R947* c.2839C>T 11 46439470 STAD G A Synonymous p.F1088F c.3264C>T 11 46419363 CM G A Synonymous p.H126H c.378C>T 11 46568663 LUAD G A Synonymous p.L309L c.925C>T 11 46564372 CM G A Synonymous p.L645L c.1935C>T 11 46529875 CM G A Synonymous p.S1194S c.3582C>T 11 46419045 BRCA G A Synonymous p.S248S c.744C>T 11 46564823 CM G A Synonymous p.S860S c.2580C>T 11 46455150 THCA G C IntronicSNV . c.551+15C>G 11 46567139 NSCLC G C IntronicSNV . c.766-38C>G 11 46564569 BRCA G C Missense p.S402W c.1205C>G 11 46564092 HNSC G C Missense p.S670C c.2009C>G 11 46529801 BLCA G C Missense p.S923C c.2768C>G 11 46439541 OV G C Nonsense p.S581* c.1742C>G 11 46563555 UCEC G C Synonymous p.V183V c.549C>G 11 46567156 BLCA GG AA Missense p.P499F c.1495_1496delinsTT 11 46563801 CM GG AC Missense p.P1163S c.3486_3487delinsGT 11 46419140 CM GGCTAGACAGA - Frameshift p.L309Pfs*3 c.924_934delTCTGTCTAGCC 11 46564363 UCEC - GGTTATGGGG Frameshift p.L841Pfs*92 c.2521_2522insCCCATAACCC 11 46456429 LGG G T Missense p.S1160Y c.3479C>A 11 46419148 LUSC G T Missense p.T1113N c.3338C>A 11 46419289 BRCA G T Nonsense p.S521* c.1562C>A 11 46563735 UCEC G T Synonymous p.R38R c.112C>A 11 46569819 STAD T A Missense p.D490V c.1469A>T 11 46563828 HC T C 5-UTRSNV . c.1-50A>G 11 46569980 CM T C Missense p.D1197G c.3590A>G 11 46419037 BLCA T C Missense p.D960G c.2879A>G 11 46431886 LUSC T C Missense p.E1133G c.3398A>G 11 46419229 ESCA T C Missense p.N1185D c.3553A>G 11 46419074 CM T C Missense p.T1154A c.3460A>G 11 46419167 STAD T C Missense p.T56A c.166A>G 11 46569395 UCEC T C Synonymous p.P98P c.294A>G 11 46568747 UCEC T G Missense p.N76T c.227A>C 11 46568814 STAD T G Missense p.T460P c.1378A>C 11 46563919 BRCA - T IntronicInsertion . c.2706+4884dupA 11 46450140 CM