Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 21 38461129 38461129 + Missense_Mutation SNP G G T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 g.chr21:38461129G>T c.369G>T c.(367-369)aaG>aaT p.K123N BLCA 21 38461129 38461129 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr21:38461129G>A c.369G>A c.(367-369)aaG>aaA p.K123K BLCA 21 38462544 38462544 + Missense_Mutation SNP C C G TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr21:38462544C>G c.438C>G c.(436-438)ttC>ttG p.F146L BLCA 21 38463619 38463619 + Silent SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 g.chr21:38463619G>C c.507G>C c.(505-507)ctG>ctC p.L169L BLCA 21 38463711 38463711 + Missense_Mutation SNP A A C TCGA-KQ-A41N-01A-11D-A339-08 TCGA-KQ-A41N-10D-01D-A339-08 g.chr21:38463711A>C c.599A>C c.(598-600)gAa>gCa p.E200A BLCA 21 38505047 38505047 + Missense_Mutation SNP C C T TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr21:38505047C>T c.1424C>T c.(1423-1425)tCt>tTt p.S475F BLCA 21 38510991 38510991 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 g.chr21:38510991C>G c.1636C>G c.(1636-1638)Ctc>Gtc p.L546V BLCA 21 38519889 38519889 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr21:38519889G>A c.2002G>A c.(2002-2004)Gat>Aat p.D668N BLCA 21 38520855 38520855 + Missense_Mutation SNP C C T TCGA-DK-AA77-01A-11D-A391-08 TCGA-DK-AA77-10A-01D-A394-08 g.chr21:38520855C>T c.2026C>T c.(2026-2028)Cgc>Tgc p.R676C BLCA 21 38522391 38522391 + Missense_Mutation SNP G G A TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr21:38522391G>A c.2132G>A c.(2131-2133)gGa>gAa p.G711E BLCA 21 38528984 38528984 + Missense_Mutation SNP C C T TCGA-GC-A6I3-01A-11D-A31L-08 TCGA-GC-A6I3-10A-01D-A31J-08 g.chr21:38528984C>T c.2768C>T c.(2767-2769)tCt>tTt p.S923F BLCA 21 38528993 38528993 + Missense_Mutation SNP G G T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 g.chr21:38528993G>T c.2777G>T c.(2776-2778)gGa>gTa p.G926V BLCA 21 38534361 38534361 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr21:38534361C>T c.3166C>T c.(3166-3168)Cat>Tat p.H1056Y BLCA 21 38536402 38536402 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr21:38536402C>T c.3220C>T c.(3220-3222)Cgg>Tgg p.R1074W BLCA 21 38537860 38537860 + Missense_Mutation SNP C C G TCGA-GC-A6I1-01A-12D-A31L-08 TCGA-GC-A6I1-10A-01D-A31J-08 g.chr21:38537860C>G c.3344C>G c.(3343-3345)tCt>tGt p.S1115C BLCA 21 38537894 38537894 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr21:38537894G>A c.3378G>A c.(3376-3378)atG>atA p.M1126I BLCA 21 38537997 38537997 + Missense_Mutation SNP C C A TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr21:38537997C>A c.3481C>A c.(3481-3483)Cgt>Agt p.R1161S BLCA 21 38538201 38538201 + Missense_Mutation SNP G G A TCGA-FD-A6TH-01A-11D-A32B-08 TCGA-FD-A6TH-10A-01D-A329-08 g.chr21:38538201G>A c.3685G>A c.(3685-3687)Gca>Aca p.A1229T BLCA 21 38538204 38538204 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr21:38538204C>T c.3688C>T c.(3688-3690)Cca>Tca p.P1230S BLCA 21 38538315 38538315 + Missense_Mutation SNP G G A TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr21:38538315G>A c.3799G>A c.(3799-3801)Gag>Aag p.E1267K BLCA 21 38538366 38538366 + Missense_Mutation SNP G G C TCGA-DK-AA74-01A-11D-A391-08 TCGA-DK-AA74-10A-01D-A394-08 g.chr21:38538366G>C c.3850G>C c.(3850-3852)Gag>Cag p.E1284Q BLCA 21 38538894 38538894 + Missense_Mutation SNP C C T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 g.chr21:38538894C>T c.4378C>T c.(4378-4380)Cac>Tac p.H1460Y BLCA 21 38538902 38538902 + Missense_Mutation SNP G G C TCGA-DK-AA74-01A-11D-A391-08 TCGA-DK-AA74-10A-01D-A394-08 g.chr21:38538902G>C c.4386G>C c.(4384-4386)caG>caC p.Q1462H BLCA 21 38560804 38560804 + Silent SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr21:38560804A>G c.4932A>G c.(4930-4932)gtA>gtG p.V1644V BLCA 21 38568048 38568048 + Missense_Mutation SNP A A T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr21:38568048A>T c.5290A>T c.(5290-5292)Act>Tct p.T1764S BLCA 21 38568211 38568211 + Missense_Mutation SNP G G A TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr21:38568211G>A c.5453G>A c.(5452-5454)cGa>cAa p.R1818Q BLCA 21 38569944 38569944 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr21:38569944G>A c.5653G>A c.(5653-5655)Gaa>Aaa p.E1885K BRCA 21 38467718 38467718 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr21:38467718C>G c.756C>G c.(754-756)atC>atG p.I252M BRCA 21 38511012 38511012 + Nonsense_Mutation SNP G G T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr21:38511012G>T c.1657G>T c.(1657-1659)Gag>Tag p.E553* BRCA 21 38516840 38516840 + Silent SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 g.chr21:38516840C>T c.1788C>T c.(1786-1788)ctC>ctT p.L596L BRCA 21 38522384 38522384 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr21:38522384C>A c.2125C>A c.(2125-2127)Cta>Ata p.L709I BRCA 21 38522414 38522414 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr21:38522414G>A c.2155G>A c.(2155-2157)Gaa>Aaa p.E719K BRCA 21 38525425 38525425 + Missense_Mutation SNP G G A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 g.chr21:38525425G>A c.2588G>A c.(2587-2589)aGa>aAa p.R863K BRCA 21 38538313 38538313 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr21:38538313C>G c.3797C>G c.(3796-3798)tCt>tGt p.S1266C BRCA 21 38538480 38538480 + Missense_Mutation SNP C C T TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 g.chr21:38538480C>T c.3964C>T c.(3964-3966)Cct>Tct p.P1322S BRCA 21 38538542 38538542 + Missense_Mutation SNP G G T TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 g.chr21:38538542G>T c.4026G>T c.(4024-4026)ttG>ttT p.L1342F BRCA 21 38538681 38538681 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr21:38538681C>T c.4165C>T c.(4165-4167)Cat>Tat p.H1389Y BRCA 21 38567987 38567987 + Missense_Mutation SNP G G C TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 g.chr21:38567987G>C c.5229G>C c.(5227-5229)gaG>gaC p.E1743D BRCA 21 38569977 38569977 + Missense_Mutation SNP G G A TCGA-B6-A40C-01A-11D-A23C-09 TCGA-B6-A40C-10A-01D-A23C-09 g.chr21:38569977G>A c.5686G>A c.(5686-5688)Gat>Aat p.D1896N BRCA 21 38572589 38572589 + Silent SNP G G A TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr21:38572589G>A c.5907G>A c.(5905-5907)gtG>gtA p.V1969V CESC 21 38460535 38460535 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 g.chr21:38460535C>T c.227C>T c.(226-228)tCt>tTt p.S76F CESC 21 38505018 38505018 + Silent SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 g.chr21:38505018G>A c.1395G>A c.(1393-1395)aaG>aaA p.K465K CESC 21 38512877 38512877 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr21:38512877A>G c.1676A>G c.(1675-1677)gAa>gGa p.E559G CESC 21 38519790 38519790 + Missense_Mutation SNP G G C TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 g.chr21:38519790G>C c.1903G>C c.(1903-1905)Gag>Cag p.E635Q CESC 21 38523150 38523150 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 g.chr21:38523150C>T c.2242C>T c.(2242-2244)Cct>Tct p.P748S CESC 21 38525250 38525250 + Splice_Site SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr21:38525250G>C c.e27-1 CESC 21 38528979 38528979 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 g.chr21:38528979C>G c.2763C>G c.(2761-2763)ttC>ttG p.F921L CESC 21 38529195 38529195 + Missense_Mutation SNP C C G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 g.chr21:38529195C>G c.2979C>G c.(2977-2979)ttC>ttG p.F993L CESC 21 38569941 38569941 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr21:38569941G>A c.5650G>A c.(5650-5652)Gat>Aat p.D1884N CHOL 21 38460547 38460547 + Missense_Mutation SNP A A G TCGA-W5-AA38-01A-11D-A417-09 TCGA-W5-AA38-10A-01D-A41A-09 g.chr21:38460547A>G c.239A>G c.(238-240)gAt>gGt p.D80G COAD 21 38460524 38460524 + Silent SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr21:38460524T>C c.216T>C c.(214-216)agT>agC p.S72S COAD 21 38460554 38460554 + Silent SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr21:38460554C>T c.246C>T c.(244-246)tgC>tgT p.C82C COAD 21 38463650 38463650 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr21:38463650A>C c.538A>C c.(538-540)Att>Ctt p.I180L COAD 21 38467695 38467695 + Nonsense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr21:38467695G>T c.733G>T c.(733-735)Gaa>Taa p.E245* COAD 21 38467731 38467731 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr21:38467731G>T c.769G>T c.(769-771)Gcc>Tcc p.A257S COAD 21 38512962 38512963 + Frame_Shift_Ins INS - - A TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr21:38512962_38512963insA c.1761_1762insA c.(1762-1764)aaafs p.K588fs COAD 21 38516848 38516848 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr21:38516848T>C c.1796T>C c.(1795-1797)tTt>tCt p.F599S COAD 21 38520856 38520856 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr21:38520856G>A c.2027G>A c.(2026-2028)cGc>cAc p.R676H COAD 21 38522404 38522404 + Silent SNP C C T TCGA-A6-6138-01A-11D-1771-10 TCGA-A6-6138-10A-01D-1771-10 g.chr21:38522404C>T c.2145C>T c.(2143-2145)acC>acT p.T715T COAD 21 38524222 38524222 + Missense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr21:38524222A>C c.2306A>C c.(2305-2307)aAa>aCa p.K769T COAD 21 38524296 38524296 + Nonsense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr21:38524296G>T c.2380G>T c.(2380-2382)Gaa>Taa p.E794* COAD 21 38525293 38525293 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr21:38525293G>T c.2456G>T c.(2455-2457)aGa>aTa p.R819I COAD 21 38525455 38525455 + Missense_Mutation SNP T T C TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr21:38525455T>C c.2618T>C c.(2617-2619)gTt>gCt p.V873A COAD 21 38525502 38525502 + Missense_Mutation SNP T T A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr21:38525502T>A c.2665T>A c.(2665-2667)Ttt>Att p.F889I COAD 21 38528987 38528987 + Missense_Mutation SNP G G A TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr21:38528987G>A c.2771G>A c.(2770-2772)cGt>cAt p.R924H COAD 21 38536358 38536358 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr21:38536358G>A c.3176G>A c.(3175-3177)cGa>cAa p.R1059Q COAD 21 38536485 38536485 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr21:38536485G>T c.3303G>T c.(3301-3303)atG>atT p.M1101I COAD 21 38537878 38537878 + Missense_Mutation SNP A A G TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr21:38537878A>G c.3362A>G c.(3361-3363)cAt>cGt p.H1121R COAD 21 38537904 38537904 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr21:38537904A>G c.3388A>G c.(3388-3390)Atg>Gtg p.M1130V COAD 21 38537940 38537940 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr21:38537940A>G c.3424A>G c.(3424-3426)Act>Gct p.T1142A COAD 21 38538153 38538153 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr21:38538153G>A c.3637G>A c.(3637-3639)Gaa>Aaa p.E1213K COAD 21 38538247 38538247 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr21:38538247C>A c.3731C>A c.(3730-3732)tCt>tAt p.S1244Y COAD 21 38538307 38538307 + Missense_Mutation SNP A A G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr21:38538307A>G c.3791A>G c.(3790-3792)cAa>cGa p.Q1264R COAD 21 38538382 38538382 + Missense_Mutation SNP A A G TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr21:38538382A>G c.3866A>G c.(3865-3867)aAg>aGg p.K1289R COAD 21 38555121 38555121 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr21:38555121G>A c.4663G>A c.(4663-4665)Gaa>Aaa p.E1555K COAD 21 38555127 38555127 + Frame_Shift_Del DEL A A - TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr21:38555127delA c.4669delA c.(4669-4671)aaafs p.K1558fs COAD 21 38555142 38555143 + Frame_Shift_Ins INS - - A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr21:38555142_38555143insA c.4684_4685insA c.(4684-4686)gaafs p.E1562fs COAD 21 38568194 38568194 + Missense_Mutation SNP G G T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr21:38568194G>T c.5436G>T c.(5434-5436)caG>caT p.Q1812H COAD 21 38573792 38573792 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr21:38573792C>T c.5995C>T c.(5995-5997)Cgt>Tgt p.R1999C COADREAD 21 38460148 38460148 + Missense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr21:38460148G>T c.160G>T c.(160-162)Gat>Tat p.D54Y COADREAD 21 38460524 38460524 + Silent SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr21:38460524T>C c.216T>C c.(214-216)agT>agC p.S72S COADREAD 21 38460554 38460554 + Silent SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr21:38460554C>T c.246C>T c.(244-246)tgC>tgT p.C82C COADREAD 21 38463650 38463650 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr21:38463650A>C c.538A>C c.(538-540)Att>Ctt p.I180L COADREAD 21 38467695 38467695 + Nonsense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr21:38467695G>T c.733G>T c.(733-735)Gaa>Taa p.E245* COADREAD 21 38467731 38467731 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr21:38467731G>T c.769G>T c.(769-771)Gcc>Tcc p.A257S COADREAD 21 38494279 38494279 + Splice_Site SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:38494279G>T c.1063G>T c.(1063-1065)Ggt>Tgt p.G355C COADREAD 21 38507697 38507697 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:38507697G>T c.1461G>T c.(1459-1461)atG>atT p.M487I COADREAD 21 38512962 38512963 + Frame_Shift_Ins INS - - A TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr21:38512962_38512963insA c.1761_1762insA c.(1762-1764)aaafs p.K588fs COADREAD 21 38516848 38516848 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr21:38516848T>C c.1796T>C c.(1795-1797)tTt>tCt p.F599S COADREAD 21 38520856 38520856 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr21:38520856G>A c.2027G>A c.(2026-2028)cGc>cAc p.R676H COADREAD 21 38522404 38522404 + Silent SNP C C T TCGA-A6-6138-01A-11D-1771-10 TCGA-A6-6138-10A-01D-1771-10 g.chr21:38522404C>T c.2145C>T c.(2143-2145)acC>acT p.T715T COADREAD 21 38523141 38523141 + Nonsense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr21:38523141G>T c.2233G>T c.(2233-2235)Gaa>Taa p.E745* COADREAD 21 38524222 38524222 + Missense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr21:38524222A>C c.2306A>C c.(2305-2307)aAa>aCa p.K769T COADREAD 21 38524296 38524296 + Nonsense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr21:38524296G>T c.2380G>T c.(2380-2382)Gaa>Taa p.E794* COADREAD 21 38525293 38525293 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr21:38525293G>T c.2456G>T c.(2455-2457)aGa>aTa p.R819I COADREAD 21 38525373 38525373 + Missense_Mutation SNP C C T TCGA-AH-6549-01A-11D-1826-10 TCGA-AH-6549-10A-01D-1826-10 g.chr21:38525373C>T c.2536C>T c.(2536-2538)Ctt>Ttt p.L846F COADREAD 21 38525452 38525452 + Missense_Mutation SNP A A T TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr21:38525452A>T c.2615A>T c.(2614-2616)tAt>tTt p.Y872F COADREAD 21 38525455 38525455 + Missense_Mutation SNP T T C TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr21:38525455T>C c.2618T>C c.(2617-2619)gTt>gCt p.V873A COADREAD 21 38525502 38525502 + Missense_Mutation SNP T T A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr21:38525502T>A c.2665T>A c.(2665-2667)Ttt>Att p.F889I COADREAD 21 38528987 38528987 + Missense_Mutation SNP G G A TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr21:38528987G>A c.2771G>A c.(2770-2772)cGt>cAt p.R924H COADREAD 21 38536358 38536358 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr21:38536358G>A c.3176G>A c.(3175-3177)cGa>cAa p.R1059Q COADREAD 21 38536485 38536485 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr21:38536485G>T c.3303G>T c.(3301-3303)atG>atT p.M1101I COADREAD 21 38537878 38537878 + Missense_Mutation SNP A A G TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr21:38537878A>G c.3362A>G c.(3361-3363)cAt>cGt p.H1121R COADREAD 21 38537904 38537904 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr21:38537904A>G c.3388A>G c.(3388-3390)Atg>Gtg p.M1130V COADREAD 21 38537937 38537937 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:38537937G>T c.3421G>T c.(3421-3423)Gaa>Taa p.E1141* COADREAD 21 38537940 38537940 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr21:38537940A>G c.3424A>G c.(3424-3426)Act>Gct p.T1142A COADREAD 21 38538153 38538153 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr21:38538153G>A c.3637G>A c.(3637-3639)Gaa>Aaa p.E1213K COADREAD 21 38538247 38538247 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr21:38538247C>A c.3731C>A c.(3730-3732)tCt>tAt p.S1244Y COADREAD 21 38538307 38538307 + Missense_Mutation SNP A A G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr21:38538307A>G c.3791A>G c.(3790-3792)cAa>cGa p.Q1264R COADREAD 21 38538382 38538382 + Missense_Mutation SNP A A G TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr21:38538382A>G c.3866A>G c.(3865-3867)aAg>aGg p.K1289R COADREAD 21 38538382 38538382 + Missense_Mutation SNP A A G TCGA-F5-6464-01A-11D-1733-10 TCGA-F5-6464-10A-01D-1733-10 g.chr21:38538382A>G c.3866A>G c.(3865-3867)aAg>aGg p.K1289R COADREAD 21 38555121 38555121 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr21:38555121G>A c.4663G>A c.(4663-4665)Gaa>Aaa p.E1555K COADREAD 21 38555127 38555127 + Frame_Shift_Del DEL A A - TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr21:38555127delA c.4669delA c.(4669-4671)aaafs p.K1558fs COADREAD 21 38555142 38555143 + Frame_Shift_Ins INS - - A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr21:38555142_38555143insA c.4684_4685insA c.(4684-4686)gaafs p.E1562fs COADREAD 21 38564433 38564433 + Missense_Mutation SNP T T G TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr21:38564433T>G c.5136T>G c.(5134-5136)atT>atG p.I1712M COADREAD 21 38568194 38568194 + Missense_Mutation SNP G G T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr21:38568194G>T c.5436G>T c.(5434-5436)caG>caT p.Q1812H COADREAD 21 38569962 38569962 + Missense_Mutation SNP A A G TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr21:38569962A>G c.5671A>G c.(5671-5673)Aca>Gca p.T1891A COADREAD 21 38573792 38573792 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr21:38573792C>T c.5995C>T c.(5995-5997)Cgt>Tgt p.R1999C DLBC 21 38520899 38520899 + Silent SNP T T C TCGA-GS-A9TW-01A-11D-A382-10 TCGA-GS-A9TW-10A-01D-A385-10 g.chr21:38520899T>C c.2070T>C c.(2068-2070)aaT>aaC p.N690N DLBC 21 38524226 38524226 + Silent SNP A A G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr21:38524226A>G c.2310A>G c.(2308-2310)aaA>aaG p.K770K DLBC 21 38534308 38534308 + Missense_Mutation SNP C C G TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr21:38534308C>G c.3113C>G c.(3112-3114)tCt>tGt p.S1038C DLBC 21 38538319 38538319 + Missense_Mutation SNP A A G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr21:38538319A>G c.3803A>G c.(3802-3804)gAt>gGt p.D1268G DLBC 21 38538736 38538736 + Missense_Mutation SNP T T G TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr21:38538736T>G c.4220T>G c.(4219-4221)cTt>cGt p.L1407R DLBC 21 38572565 38572565 + Silent SNP C C T TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr21:38572565C>T c.5883C>T c.(5881-5883)caC>caT p.H1961H ESCA 21 38460554 38460554 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 g.chr21:38460554C>T c.246C>T c.(244-246)tgC>tgT p.C82C ESCA 21 38462544 38462544 + Missense_Mutation SNP C C A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr21:38462544C>A c.438C>A c.(436-438)ttC>ttA p.F146L ESCA 21 38467699 38467699 + Missense_Mutation SNP G G T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 g.chr21:38467699G>T c.737G>T c.(736-738)aGa>aTa p.R246I ESCA 21 38467744 38467744 + Splice_Site SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 g.chr21:38467744G>T c.782G>T c.(781-783)aGa>aTa p.R261I ESCA 21 38512963 38512963 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr21:38512963delA c.1762delA c.(1762-1764)aaafs p.K589fs ESCA 21 38516931 38516931 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 g.chr21:38516931C>T c.1879C>T c.(1879-1881)Cca>Tca p.P627S ESCA 21 38537881 38537881 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 g.chr21:38537881G>T c.3365G>T c.(3364-3366)gGt>gTt p.G1122V ESCA 21 38537906 38537906 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 g.chr21:38537906G>T c.3390G>T c.(3388-3390)atG>atT p.M1130I ESCA 21 38537977 38537977 + Missense_Mutation SNP C C A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 g.chr21:38537977C>A c.3461C>A c.(3460-3462)cCt>cAt p.P1154H GBMLGG 21 38536430 38536430 + Missense_Mutation SNP T T G TCGA-DU-5852-01A-11D-1705-08 TCGA-DU-5852-10A-01D-1705-08 g.chr21:38536430T>G c.3248T>G c.(3247-3249)cTc>cGc p.L1083R GBMLGG 21 38560897 38560897 + Splice_Site SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:38560897G>A c.e39+1 GBMLGG 21 38568034 38568035 + Frame_Shift_Ins INS - - T TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 g.chr21:38568034_38568035insT c.5276_5277insT c.(5275-5280)tctgcafs p.A1760fs GBMLGG 21 38569870 38569870 + Splice_Site SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:38569870G>T c.e43-1 HNSC 21 38460600 38460600 + Missense_Mutation SNP C C G TCGA-F7-A623-01A-11D-A28R-08 TCGA-F7-A623-10A-01D-A28U-08 g.chr21:38460600C>G c.292C>G c.(292-294)Caa>Gaa p.Q98E HNSC 21 38461125 38461125 + Missense_Mutation SNP T T C TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr21:38461125T>C c.365T>C c.(364-366)tTg>tCg p.L122S HNSC 21 38462567 38462567 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr21:38462567T>C c.461T>C c.(460-462)aTt>aCt p.I154T HNSC 21 38467718 38467718 + Missense_Mutation SNP C C G TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 g.chr21:38467718C>G c.756C>G c.(754-756)atC>atG p.I252M HNSC 21 38516833 38516833 + Missense_Mutation SNP A A C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 g.chr21:38516833A>C c.1781A>C c.(1780-1782)gAa>gCa p.E594A HNSC 21 38520891 38520891 + Missense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 g.chr21:38520891C>G c.2062C>G c.(2062-2064)Cac>Gac p.H688D HNSC 21 38520908 38520908 + Silent SNP G G A TCGA-T2-A6X2-01A-12D-A34J-08 TCGA-T2-A6X2-10B-01D-A34M-08 g.chr21:38520908G>A c.2079G>A c.(2077-2079)aaG>aaA p.K693K HNSC 21 38523186 38523186 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr21:38523186T>C c.e25+2 HNSC 21 38525425 38525425 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 g.chr21:38525425G>C c.2588G>C c.(2587-2589)aGa>aCa p.R863T HNSC 21 38529114 38529114 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 g.chr21:38529114G>A c.2898G>A c.(2896-2898)ttG>ttA p.L966L HNSC 21 38538034 38538034 + Missense_Mutation SNP A A G TCGA-CQ-A4CB-01A-11D-A25D-08 TCGA-CQ-A4CB-10A-01D-A25E-08 g.chr21:38538034A>G c.3518A>G c.(3517-3519)aAg>aGg p.K1173R HNSC 21 38538152 38538152 + Silent SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr21:38538152G>A c.3636G>A c.(3634-3636)agG>agA p.R1212R HNSC 21 38538338 38538338 + Silent SNP C C G TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 g.chr21:38538338C>G c.3822C>G c.(3820-3822)gtC>gtG p.V1274V HNSC 21 38560808 38560808 + Missense_Mutation SNP G G C TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 g.chr21:38560808G>C c.4936G>C c.(4936-4938)Gaa>Caa p.E1646Q HNSC 21 38560888 38560888 + Silent SNP G G A TCGA-CV-A45P-01A-11D-A24D-08 TCGA-CV-A45P-10A-01D-A24F-08 g.chr21:38560888G>A c.5016G>A c.(5014-5016)ctG>ctA p.L1672L HNSC 21 38567994 38567994 + Missense_Mutation SNP C C T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 g.chr21:38567994C>T c.5236C>T c.(5236-5238)Cct>Tct p.P1746S HNSC 21 38568201 38568201 + Missense_Mutation SNP C C G TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 g.chr21:38568201C>G c.5443C>G c.(5443-5445)Ctg>Gtg p.L1815V KIPAN 21 38494164 38494164 + Missense_Mutation SNP C C G TCGA-2Z-A9J6-01A-11D-A382-10 TCGA-2Z-A9J6-10A-01D-A385-10 g.chr21:38494164C>G c.948C>G c.(946-948)gaC>gaG p.D316E KIPAN 21 38494269 38494269 + Missense_Mutation SNP A A T TCGA-SX-A71R-01A-12D-A33Q-10 TCGA-SX-A71R-10A-01D-A33Q-10 g.chr21:38494269A>T c.1053A>T c.(1051-1053)gaA>gaT p.E351D KIPAN 21 38519809 38519809 + Missense_Mutation SNP G G A TCGA-Q2-A5QZ-01A-11D-A28G-10 TCGA-Q2-A5QZ-10A-01D-A28G-10 g.chr21:38519809G>A c.1922G>A c.(1921-1923)tGc>tAc p.C641Y KIPAN 21 38539860 38539860 + Missense_Mutation SNP T T A TCGA-CZ-5465-01A-01D-1806-10 TCGA-CZ-5465-11A-01D-1501-10 g.chr21:38539860T>A c.4405T>A c.(4405-4407)Tct>Act p.S1469T KIPAN 21 38568034 38568035 + Frame_Shift_Ins INS - - T TCGA-GL-8500-01A-11D-2396-08 TCGA-GL-8500-10A-01D-2396-08 g.chr21:38568034_38568035insT c.5276_5277insT c.(5275-5280)tctgcafs p.A1760fs KIRC 21 38539860 38539860 + Missense_Mutation SNP T T A TCGA-CZ-5465-01A-01D-1806-10 TCGA-CZ-5465-11A-01D-1501-10 g.chr21:38539860T>A c.4405T>A c.(4405-4407)Tct>Act p.S1469T KIRP 21 38494164 38494164 + Missense_Mutation SNP C C G TCGA-2Z-A9J6-01A-11D-A382-10 TCGA-2Z-A9J6-10A-01D-A385-10 g.chr21:38494164C>G c.948C>G c.(946-948)gaC>gaG p.D316E KIRP 21 38494269 38494269 + Missense_Mutation SNP A A T TCGA-SX-A71R-01A-12D-A33Q-10 TCGA-SX-A71R-10A-01D-A33Q-10 g.chr21:38494269A>T c.1053A>T c.(1051-1053)gaA>gaT p.E351D KIRP 21 38519809 38519809 + Missense_Mutation SNP G G A TCGA-Q2-A5QZ-01A-11D-A28G-10 TCGA-Q2-A5QZ-10A-01D-A28G-10 g.chr21:38519809G>A c.1922G>A c.(1921-1923)tGc>tAc p.C641Y KIRP 21 38568034 38568035 + Frame_Shift_Ins INS - - T TCGA-GL-8500-01A-11D-2396-08 TCGA-GL-8500-10A-01D-2396-08 g.chr21:38568034_38568035insT c.5276_5277insT c.(5275-5280)tctgcafs p.A1760fs LAML 21 38538290 38538290 + Silent SNP C C T TCGA-AB-2910-03A-01W-0745-08 TCGA-AB-2910-11A-01W-0745-08 g.chr21:38538290C>T c.3774C>T c.(3772-3774)tcC>tcT p.S1258S LGG 21 38536430 38536430 + Missense_Mutation SNP T T G TCGA-DU-5852-01A-11D-1705-08 TCGA-DU-5852-10A-01D-1705-08 g.chr21:38536430T>G c.3248T>G c.(3247-3249)cTc>cGc p.L1083R LGG 21 38560897 38560897 + Splice_Site SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:38560897G>A c.e39+1 LGG 21 38568034 38568035 + Frame_Shift_Ins INS - - T TCGA-HW-8322-01A-11D-2395-08 TCGA-HW-8322-10A-01D-2396-08 g.chr21:38568034_38568035insT c.5276_5277insT c.(5275-5280)tctgcafs p.A1760fs LGG 21 38569870 38569870 + Splice_Site SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:38569870G>T c.e43-1 LIHC 21 38461097 38461097 + Splice_Site SNP A A T TCGA-CC-A7IJ-01A-11D-A33Q-10 TCGA-CC-A7IJ-10A-01D-A33Q-10 g.chr21:38461097A>T c.e5-1 LIHC 21 38494152 38494152 + Frame_Shift_Del DEL G G - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr21:38494152delG c.936delG c.(934-936)ctgfs p.L312fs LIHC 21 38510935 38510935 + Splice_Site SNP A A G TCGA-G3-AAUZ-01A-11D-A382-10 TCGA-G3-AAUZ-10A-01D-A385-10 g.chr21:38510935A>G c.1580A>G c.(1579-1581)cAa>cGa p.Q527R LIHC 21 38538061 38538061 + Missense_Mutation SNP G G A TCGA-2Y-A9H4-01A-11D-A382-10 TCGA-2Y-A9H4-10A-01D-A385-10 g.chr21:38538061G>A c.3545G>A c.(3544-3546)aGg>aAg p.R1182K LIHC 21 38538717 38538717 + Missense_Mutation SNP G G A TCGA-DD-A4NJ-01A-11D-A27I-10 TCGA-DD-A4NJ-10A-01D-A27I-10 g.chr21:38538717G>A c.4201G>A c.(4201-4203)Gcc>Acc p.A1401T LIHC 21 38538901 38538901 + Missense_Mutation SNP A A G TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr21:38538901A>G c.4385A>G c.(4384-4386)cAg>cGg p.Q1462R LIHC 21 38538901 38538901 + Missense_Mutation SNP A A G TCGA-G3-A25S-01A-11D-A16V-10 TCGA-G3-A25S-10A-01D-A16V-10 g.chr21:38538901A>G c.4385A>G c.(4384-4386)cAg>cGg p.Q1462R LIHC 21 38555184 38555184 + Frame_Shift_Del DEL A A - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr21:38555184delA c.4726delA c.(4726-4728)aaafs p.K1576fs LIHC 21 38567975 38567975 + Splice_Site SNP G G A TCGA-DD-AADF-01A-11D-A40R-10 TCGA-DD-AADF-10A-01D-A40U-10 g.chr21:38567975G>A c.e42-1 LIHC 21 38567997 38567997 + Nonsense_Mutation SNP G G T TCGA-DD-AADF-01A-11D-A40R-10 TCGA-DD-AADF-10A-01D-A40U-10 g.chr21:38567997G>T c.5239G>T c.(5239-5241)Gag>Tag p.E1747* LIHC 21 38572587 38572587 + Missense_Mutation SNP G G A TCGA-DD-A11C-01A-11D-A12Z-10 TCGA-DD-A11C-11A-11D-A12Z-10 g.chr21:38572587G>A c.5905G>A c.(5905-5907)Gtg>Atg p.V1969M LIHC 21 38573864 38573864 + Missense_Mutation SNP T T C TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr21:38573864T>C c.6067T>C c.(6067-6069)Tct>Cct p.S2023P LUAD 21 38459593 38459593 + Silent SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 g.chr21:38459593G>T c.36G>T c.(34-36)gcG>gcT p.A12A LUAD 21 38459658 38459658 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr21:38459658G>T c.101G>T c.(100-102)aGc>aTc p.S34I LUAD 21 38480702 38480702 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 g.chr21:38480702G>A c.856G>A c.(856-858)Ggt>Agt p.G286S LUAD 21 38498419 38498419 + Missense_Mutation SNP C C T TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr21:38498419C>T c.1273C>T c.(1273-1275)Cat>Tat p.H425Y LUAD 21 38507791 38507791 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 g.chr21:38507791G>T c.1555G>T c.(1555-1557)Ggt>Tgt p.G519C LUAD 21 38524265 38524265 + Missense_Mutation SNP A A C TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr21:38524265A>C c.2349A>C c.(2347-2349)ttA>ttC p.L783F LUAD 21 38525505 38525505 + Silent SNP C C T TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr21:38525505C>T c.2668C>T c.(2668-2670)Ctg>Ttg p.L890L LUAD 21 38533142 38533142 + Missense_Mutation SNP G G T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 g.chr21:38533142G>T c.3078G>T c.(3076-3078)aaG>aaT p.K1026N LUAD 21 38536435 38536435 + Missense_Mutation SNP G G T TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr21:38536435G>T c.3253G>T c.(3253-3255)Gac>Tac p.D1085Y LUAD 21 38537922 38537922 + Missense_Mutation SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 g.chr21:38537922G>C c.3406G>C c.(3406-3408)Gag>Cag p.E1136Q LUAD 21 38537944 38537944 + Missense_Mutation SNP G G T TCGA-17-Z028-01A-01W-0746-08 TCGA-17-Z028-11A-01W-0746-08 g.chr21:38537944G>T c.3428G>T c.(3427-3429)cGa>cTa p.R1143L LUAD 21 38537963 38537963 + Silent SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 g.chr21:38537963A>T c.3447A>T c.(3445-3447)gcA>gcT p.A1149A LUAD 21 38538595 38538595 + Missense_Mutation SNP A A C TCGA-NJ-A4YF-01A-12D-A25L-08 TCGA-NJ-A4YF-10A-01D-A25L-08 g.chr21:38538595A>C c.4079A>C c.(4078-4080)cAg>cCg p.Q1360P LUAD 21 38538740 38538740 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 g.chr21:38538740G>T c.4224G>T c.(4222-4224)gaG>gaT p.E1408D LUAD 21 38555171 38555180 + Frame_Shift_Del DEL ATCACTGAAG ATCACTGAAG - TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 g.chr21:38555171_38555180delATCACTGAAG c.4713_4722delATCACTGAAG c.(4711-4722)aaatcactgaagfs p.KSLK1571fs LUAD 21 38559406 38559406 + Missense_Mutation SNP A A C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr21:38559406A>C c.4883A>C c.(4882-4884)gAg>gCg p.E1628A LUAD 21 38573834 38573834 + Missense_Mutation SNP C C G TCGA-95-A4VN-01A-11D-A25L-08 TCGA-95-A4VN-10A-01D-A25L-08 g.chr21:38573834C>G c.6037C>G c.(6037-6039)Ccc>Gcc p.P2013A LUSC 21 38459592 38459592 + Missense_Mutation SNP C C A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 g.chr21:38459592C>A c.35C>A c.(34-36)gCg>gAg p.A12E LUSC 21 38459620 38459620 + Silent SNP T T A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 g.chr21:38459620T>A c.63T>A c.(61-63)ccT>ccA p.P21P LUSC 21 38460573 38460573 + Missense_Mutation SNP A A G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 g.chr21:38460573A>G c.265A>G c.(265-267)Atc>Gtc p.I89V LUSC 21 38512875 38512875 + Silent SNP C C T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 g.chr21:38512875C>T c.1674C>T c.(1672-1674)gcC>gcT p.A558A LUSC 21 38519833 38519833 + Frame_Shift_Del DEL C C - TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr21:38519833delC c.1946delC c.(1945-1947)gccfs p.A649fs LUSC 21 38568325 38568325 + Missense_Mutation SNP C C G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 g.chr21:38568325C>G c.5567C>G c.(5566-5568)cCa>cGa p.P1856R LUSC 21 38573770 38573770 + Silent SNP C C T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 g.chr21:38573770C>T c.5973C>T c.(5971-5973)agC>agT p.S1991S OV 21 38460546 38460546 + Missense_Mutation SNP G G A TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 g.chr21:38460546G>A c.238G>A c.(238-240)Gat>Aat p.D80N OV 21 38497001 38497001 + Missense_Mutation SNP A A G TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 g.chr21:38497001A>G c.1192A>G c.(1192-1194)Att>Gtt p.I398V OV 21 38498393 38498393 + Missense_Mutation SNP C C T TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 g.chr21:38498393C>T c.1247C>T c.(1246-1248)gCg>gTg p.A416V OV 21 38537877 38537877 + Missense_Mutation SNP C C G TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 g.chr21:38537877C>G c.3361C>G c.(3361-3363)Cat>Gat p.H1121D PAAD 21 38501361 38501361 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr21:38501361C>A c.1356C>A c.(1354-1356)ttC>ttA p.F452L PAAD 21 38519880 38519880 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:38519880T>C c.1993T>C c.(1993-1995)Tac>Cac p.Y665H PAAD 21 38537998 38537998 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:38537998G>A c.3482G>A c.(3481-3483)cGt>cAt p.R1161H PAAD 21 38538054 38538054 + Frame_Shift_Del DEL A A - TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 g.chr21:38538054delA c.3538delA c.(3538-3540)aaafs p.K1181fs PAAD 21 38538444 38538444 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:38538444C>A c.3928C>A c.(3928-3930)Caa>Aaa p.Q1310K PRAD 21 38460555 38460555 + Missense_Mutation SNP G G A TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr21:38460555G>A c.247G>A c.(247-249)Gat>Aat p.D83N PRAD 21 38511002 38511002 + Silent SNP A A C TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 g.chr21:38511002A>C c.1647A>C c.(1645-1647)atA>atC p.I549I PRAD 21 38536463 38536463 + Missense_Mutation SNP G G A TCGA-KK-A8I8-01A-11D-A364-08 TCGA-KK-A8I8-11A-11D-A362-08 g.chr21:38536463G>A c.3281G>A c.(3280-3282)cGc>cAc p.R1094H PRAD 21 38564418 38564418 + Missense_Mutation SNP G G C TCGA-ZG-A9L9-01A-11D-A41K-08 TCGA-ZG-A9L9-10A-01D-A41N-08 g.chr21:38564418G>C c.5121G>C c.(5119-5121)caG>caC p.Q1707H READ 21 38460148 38460148 + Missense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr21:38460148G>T c.160G>T c.(160-162)Gat>Tat p.D54Y READ 21 38494279 38494279 + Splice_Site SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:38494279G>T c.1063G>T c.(1063-1065)Ggt>Tgt p.G355C READ 21 38507697 38507697 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:38507697G>T c.1461G>T c.(1459-1461)atG>atT p.M487I READ 21 38523141 38523141 + Nonsense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr21:38523141G>T c.2233G>T c.(2233-2235)Gaa>Taa p.E745* READ 21 38525373 38525373 + Missense_Mutation SNP C C T TCGA-AH-6549-01A-11D-1826-10 TCGA-AH-6549-10A-01D-1826-10 g.chr21:38525373C>T c.2536C>T c.(2536-2538)Ctt>Ttt p.L846F READ 21 38525452 38525452 + Missense_Mutation SNP A A T TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr21:38525452A>T c.2615A>T c.(2614-2616)tAt>tTt p.Y872F READ 21 38537937 38537937 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:38537937G>T c.3421G>T c.(3421-3423)Gaa>Taa p.E1141* READ 21 38538382 38538382 + Missense_Mutation SNP A A G TCGA-F5-6464-01A-11D-1733-10 TCGA-F5-6464-10A-01D-1733-10 g.chr21:38538382A>G c.3866A>G c.(3865-3867)aAg>aGg p.K1289R READ 21 38564433 38564433 + Missense_Mutation SNP T T G TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr21:38564433T>G c.5136T>G c.(5134-5136)atT>atG p.I1712M READ 21 38569962 38569962 + Missense_Mutation SNP A A G TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr21:38569962A>G c.5671A>G c.(5671-5673)Aca>Gca p.T1891A SARC 21 38461127 38461127 + Missense_Mutation SNP A A G TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 g.chr21:38461127A>G c.367A>G c.(367-369)Aag>Gag p.K123E SARC 21 38495291 38495291 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chr21:38495291G>A c.1072G>A c.(1072-1074)Gca>Aca p.A358T SARC 21 38563714 38563714 + Nonsense_Mutation SNP G G T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 g.chr21:38563714G>T c.5104G>T c.(5104-5106)Gag>Tag p.E1702* SKCM 21 38462568 38462568 + Silent SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr21:38462568T>C c.462T>C c.(460-462)atT>atC p.I154I SKCM 21 38467671 38467671 + Nonsense_Mutation SNP A A T TCGA-ER-A19M-06A-61D-A23B-08 TCGA-ER-A19M-10A-01D-A23B-08 g.chr21:38467671A>T c.709A>T c.(709-711)Aaa>Taa p.K237* SKCM 21 38507810 38507810 + Missense_Mutation SNP T T A TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr21:38507810T>A c.1574T>A c.(1573-1575)aTa>aAa p.I525K SKCM 21 38511016 38511016 + Splice_Site SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr21:38511016T>C c.e19+2 SKCM 21 38512909 38512909 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr21:38512909C>T c.1708C>T c.(1708-1710)Ccc>Tcc p.P570S SKCM 21 38512910 38512910 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr21:38512910C>G c.1709C>G c.(1708-1710)cCc>cGc p.P570R SKCM 21 38516844 38516844 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr21:38516844C>T c.1792C>T c.(1792-1794)Cac>Tac p.H598Y SKCM 21 38516888 38516888 + Silent SNP G G C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr21:38516888G>C c.1836G>C c.(1834-1836)gtG>gtC p.V612V SKCM 21 38524310 38524310 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr21:38524310C>T c.2394C>T c.(2392-2394)ccC>ccT p.P798P SKCM 21 38524315 38524315 + Missense_Mutation SNP A A T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr21:38524315A>T c.2399A>T c.(2398-2400)aAt>aTt p.N800I SKCM 21 38525296 38525296 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr21:38525296T>G c.2459T>G c.(2458-2460)aTt>aGt p.I820S SKCM 21 38525359 38525359 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr21:38525359T>G c.2522T>G c.(2521-2523)cTt>cGt p.L841R SKCM 21 38525433 38525433 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr21:38525433C>T c.2596C>T c.(2596-2598)Cta>Tta p.L866L SKCM 21 38525559 38525559 + Nonsense_Mutation SNP C C T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr21:38525559C>T c.2722C>T c.(2722-2724)Caa>Taa p.Q908* SKCM 21 38529064 38529064 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr21:38529064G>A c.2848G>A c.(2848-2850)Gac>Aac p.D950N SKCM 21 38529124 38529124 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr21:38529124C>G c.2908C>G c.(2908-2910)Cgt>Ggt p.R970G SKCM 21 38534350 38534350 + Missense_Mutation SNP C C T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr21:38534350C>T c.3155C>T c.(3154-3156)tCa>tTa p.S1052L SKCM 21 38537884 38537884 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr21:38537884C>T c.3368C>T c.(3367-3369)cCc>cTc p.P1123L SKCM 21 38538282 38538282 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr21:38538282C>T c.3766C>T c.(3766-3768)Cca>Tca p.P1256S SKCM 21 38538328 38538328 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr21:38538328C>T c.3812C>T c.(3811-3813)cCc>cTc p.P1271L SKCM 21 38538329 38538329 + Silent SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr21:38538329C>T c.3813C>T c.(3811-3813)ccC>ccT p.P1271P SKCM 21 38538329 38538329 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr21:38538329C>T c.3813C>T c.(3811-3813)ccC>ccT p.P1271P SKCM 21 38538400 38538400 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr21:38538400C>T c.3884C>T c.(3883-3885)tCc>tTc p.S1295F SKCM 21 38538480 38538480 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr21:38538480C>T c.3964C>T c.(3964-3966)Cct>Tct p.P1322S SKCM 21 38538831 38538831 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr21:38538831G>A c.4315G>A c.(4315-4317)Gga>Aga p.G1439R SKCM 21 38539913 38539913 + Silent SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr21:38539913G>A c.4458G>A c.(4456-4458)gaG>gaA p.E1486E SKCM 21 38555196 38555196 + Missense_Mutation SNP G G C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 g.chr21:38555196G>C c.4738G>C c.(4738-4740)Gtt>Ctt p.V1580L SKCM 21 38568232 38568232 + Missense_Mutation SNP A A T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr21:38568232A>T c.5474A>T c.(5473-5475)aAg>aTg p.K1825M SKCM 21 38568323 38568323 + Silent SNP C C T TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr21:38568323C>T c.5565C>T c.(5563-5565)ttC>ttT p.F1855F SKCM 21 38568329 38568329 + Missense_Mutation SNP T T G TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 g.chr21:38568329T>G c.5571T>G c.(5569-5571)tgT>tgG p.C1857W SKCM 21 38569994 38569994 + Silent SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr21:38569994A>G c.5703A>G c.(5701-5703)aaA>aaG p.K1901K SKCM 21 38572549 38572549 + Missense_Mutation SNP C C T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr21:38572549C>T c.5867C>T c.(5866-5868)tCc>tTc p.S1956F

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 21 38524281 38524281 single base substitution G C downstream_gene_variant BLCA-CN 21 38524281 38524281 single base substitution G C exon_variant BLCA-CN 21 38524281 38524281 single base substitution G C missense_variant E152Q 454G>C BLCA-CN 21 38524281 38524281 single base substitution G C missense_variant E479Q 1435G>C BLCA-CN 21 38524281 38524281 single base substitution G C missense_variant E771Q 2311G>C BLCA-CN 21 38524281 38524281 single base substitution G C missense_variant E789Q 2365G>C BLCA-CN 21 38524281 38524281 single base substitution G C upstream_gene_variant BLCA-CN 21 38563725 38563725 single base substitution G A splice_region_variant BLCA-CN 21 38563725 38563725 single base substitution G A upstream_gene_variant BLCA-CN 21 38564453 38564453 single base substitution C T exon_variant BLCA-CN 21 38564453 38564453 single base substitution C T intron_variant BLCA-CN 21 38564453 38564453 single base substitution C T missense_variant S1719F 5156C>T BLCA-CN 21 38564453 38564453 single base substitution C T upstream_gene_variant BLCA-CN 21 38564471 38564471 single base substitution C G exon_variant BLCA-CN 21 38564471 38564471 single base substitution C G intron_variant BLCA-CN 21 38564471 38564471 single base substitution C G missense_variant S1725C 5174C>G BLCA-CN 21 38564471 38564471 single base substitution C G upstream_gene_variant BLCA-CN 21 38572566 38572566 single base substitution G A downstream_gene_variant BLCA-CN 21 38572566 38572566 single base substitution G A exon_variant BLCA-CN 21 38572566 38572566 single base substitution G A missense_variant E1962K 5884G>A BLCA-CN 21 38572566 38572566 single base substitution G A missense_variant E253K 757G>A BLCA-US 21 38444858 38444858 single base substitution C T upstream_gene_variant BLCA-US 21 38461129 38461129 single base substitution G A exon_variant BLCA-US 21 38461129 38461129 single base substitution G A intron_variant BLCA-US 21 38461129 38461129 single base substitution G A synonymous_variant K123K 369G>A BLCA-US 21 38461129 38461129 single base substitution G A upstream_gene_variant BLCA-US 21 38461129 38461129 single base substitution G T exon_variant BLCA-US 21 38461129 38461129 single base substitution G T intron_variant BLCA-US 21 38461129 38461129 single base substitution G T missense_variant K123N 369G>T BLCA-US 21 38461129 38461129 single base substitution G T upstream_gene_variant BLCA-US 21 38463619 38463619 single base substitution G C exon_variant BLCA-US 21 38463619 38463619 single base substitution G C intron_variant BLCA-US 21 38463619 38463619 single base substitution G C synonymous_variant L151L 453G>C BLCA-US 21 38463619 38463619 single base substitution G C synonymous_variant L169L 507G>C BLCA-US 21 38463619 38463619 single base substitution G C upstream_gene_variant BLCA-US 21 38510991 38510991 single base substitution C G downstream_gene_variant BLCA-US 21 38510991 38510991 single base substitution C G exon_variant BLCA-US 21 38510991 38510991 single base substitution C G missense_variant L236V 706C>G BLCA-US 21 38510991 38510991 single base substitution C G missense_variant L528V 1582C>G BLCA-US 21 38510991 38510991 single base substitution C G missense_variant L546V 1636C>G BLCA-US 21 38519889 38519889 single base substitution G A exon_variant BLCA-US 21 38519889 38519889 single base substitution G A missense_variant D358N 1072G>A BLCA-US 21 38519889 38519889 single base substitution G A missense_variant D650N 1948G>A BLCA-US 21 38519889 38519889 single base substitution G A missense_variant D65N 193G>A BLCA-US 21 38519889 38519889 single base substitution G A missense_variant D668N 2002G>A BLCA-US 21 38538204 38538204 single base substitution C T downstream_gene_variant BLCA-US 21 38538204 38538204 single base substitution C T exon_variant BLCA-US 21 38538204 38538204 single base substitution C T missense_variant P1230S 3688C>T BLCA-US 21 38568048 38568048 single base substitution A T exon_variant BLCA-US 21 38568048 38568048 single base substitution A T missense_variant T1764S 5290A>T BLCA-US 21 38568048 38568048 single base substitution A T missense_variant T55S 163A>T BOCA-UK 21 38463679 38463679 single base substitution T G exon_variant BOCA-UK 21 38463679 38463679 single base substitution T G intron_variant BOCA-UK 21 38463679 38463679 single base substitution T G missense_variant N171K 513T>G BOCA-UK 21 38463679 38463679 single base substitution T G missense_variant N189K 567T>G BOCA-UK 21 38463679 38463679 single base substitution T G upstream_gene_variant BRCA-EU 21 38440604 38440604 deletion of <=200bp T - upstream_gene_variant BRCA-EU 21 38441998 38441998 single base substitution G C upstream_gene_variant BRCA-EU 21 38442489 38442501 deletion of <=200bp AATCCTCCAAGAC - upstream_gene_variant BRCA-EU 21 38444838 38444838 single base substitution C T upstream_gene_variant BRCA-EU 21 38444858 38444858 single base substitution C T upstream_gene_variant BRCA-EU 21 38447026 38447026 single base substitution G A intron_variant BRCA-EU 21 38447271 38447271 insertion of <=200bp - T intron_variant BRCA-EU 21 38447455 38447455 single base substitution T G intron_variant BRCA-EU 21 38447793 38447793 single base substitution C G intron_variant BRCA-EU 21 38448155 38448155 single base substitution T C intron_variant BRCA-EU 21 38448451 38448451 single base substitution T G intron_variant BRCA-EU 21 38450377 38450377 single base substitution C A intron_variant BRCA-EU 21 38450377 38450377 single base substitution C A upstream_gene_variant BRCA-EU 21 38451896 38451896 single base substitution G A intron_variant BRCA-EU 21 38451896 38451896 single base substitution G A upstream_gene_variant BRCA-EU 21 38451905 38451905 single base substitution C T intron_variant BRCA-EU 21 38451905 38451905 single base substitution C T upstream_gene_variant BRCA-EU 21 38452489 38452489 single base substitution T C intron_variant BRCA-EU 21 38452489 38452489 single base substitution T C upstream_gene_variant BRCA-EU 21 38454065 38454065 single base substitution C T 5_prime_UTR_variant BRCA-EU 21 38454065 38454065 single base substitution C T intron_variant BRCA-EU 21 38454065 38454065 single base substitution C T upstream_gene_variant BRCA-EU 21 38454281 38454281 single base substitution C T 5_prime_UTR_variant BRCA-EU 21 38454281 38454281 single base substitution C T intron_variant BRCA-EU 21 38454281 38454281 single base substitution C T upstream_gene_variant BRCA-EU 21 38454829 38454829 single base substitution C T 5_prime_UTR_variant BRCA-EU 21 38454829 38454829 single base substitution C T intron_variant BRCA-EU 21 38454829 38454829 single base substitution C T upstream_gene_variant BRCA-EU 21 38460655 38460655 single base substitution C G intron_variant BRCA-EU 21 38460655 38460655 single base substitution C G upstream_gene_variant BRCA-EU 21 38461788 38461788 deletion of <=200bp A - intron_variant BRCA-EU 21 38461788 38461788 deletion of <=200bp A - upstream_gene_variant BRCA-EU 21 38462367 38462367 single base substitution C G intron_variant BRCA-EU 21 38462367 38462367 single base substitution C G upstream_gene_variant BRCA-EU 21 38465013 38465013 single base substitution C G intron_variant BRCA-EU 21 38466813 38466813 deletion of <=200bp T - downstream_gene_variant BRCA-EU 21 38466813 38466813 deletion of <=200bp T - intron_variant BRCA-EU 21 38471211 38471211 single base substitution C G 3_prime_UTR_variant BRCA-EU 21 38471211 38471211 single base substitution C G downstream_gene_variant BRCA-EU 21 38471211 38471211 single base substitution C G intron_variant BRCA-EU 21 38471626 38471626 single base substitution G A downstream_gene_variant BRCA-EU 21 38471626 38471626 single base substitution G A intron_variant BRCA-EU 21 38471971 38471971 single base substitution G T downstream_gene_variant BRCA-EU 21 38471971 38471971 single base substitution G T intron_variant BRCA-EU 21 38472121 38472121 single base substitution G A downstream_gene_variant BRCA-EU 21 38472121 38472121 single base substitution G A intron_variant BRCA-EU 21 38473125 38473125 single base substitution G T downstream_gene_variant BRCA-EU 21 38473125 38473125 single base substitution G T intron_variant BRCA-EU 21 38473200 38473200 single base substitution C T downstream_gene_variant BRCA-EU 21 38473200 38473200 single base substitution C T intron_variant BRCA-EU 21 38473209 38473209 single base substitution C A downstream_gene_variant BRCA-EU 21 38473209 38473209 single base substitution C A intron_variant BRCA-EU 21 38473856 38473856 single base substitution G C downstream_gene_variant BRCA-EU 21 38473856 38473856 single base substitution G C intron_variant BRCA-EU 21 38474989 38474989 single base substitution C G downstream_gene_variant BRCA-EU 21 38474989 38474989 single base substitution C G intron_variant BRCA-EU 21 38476262 38476262 single base substitution T A downstream_gene_variant BRCA-EU 21 38476262 38476262 single base substitution T A intron_variant BRCA-EU 21 38476262 38476262 single base substitution T A upstream_gene_variant BRCA-EU 21 38477779 38477779 single base substitution T G intron_variant BRCA-EU 21 38477779 38477779 single base substitution T G upstream_gene_variant BRCA-EU 21 38478089 38478089 single base substitution G C intron_variant BRCA-EU 21 38478089 38478089 single base substitution G C upstream_gene_variant BRCA-EU 21 38478096 38478096 single base substitution A G intron_variant BRCA-EU 21 38478096 38478096 single base substitution A G upstream_gene_variant BRCA-EU 21 38478511 38478511 single base substitution C G intron_variant BRCA-EU 21 38478511 38478511 single base substitution C G upstream_gene_variant BRCA-EU 21 38479260 38479260 single base substitution T A intron_variant BRCA-EU 21 38479260 38479260 single base substitution T A upstream_gene_variant BRCA-EU 21 38479744 38479748 deletion of <=200bp GAAGA - intron_variant BRCA-EU 21 38479744 38479748 deletion of <=200bp GAAGA - upstream_gene_variant BRCA-EU 21 38479748 38479748 single base substitution A T intron_variant BRCA-EU 21 38479748 38479748 single base substitution A T upstream_gene_variant BRCA-EU 21 38480021 38480021 single base substitution G C intron_variant BRCA-EU 21 38480021 38480021 single base substitution G C upstream_gene_variant BRCA-EU 21 38481529 38481529 single base substitution C T intron_variant BRCA-EU 21 38482420 38482420 single base substitution G A intron_variant BRCA-EU 21 38482854 38482854 single base substitution G A intron_variant BRCA-EU 21 38483156 38483156 single base substitution C A intron_variant BRCA-EU 21 38483421 38483421 single base substitution C G intron_variant BRCA-EU 21 38483682 38483682 single base substitution A G intron_variant BRCA-EU 21 38484109 38484109 single base substitution C G intron_variant BRCA-EU 21 38486688 38486688 single base substitution C T intron_variant BRCA-EU 21 38487263 38487263 single base substitution A G intron_variant BRCA-EU 21 38487333 38487333 single base substitution G A intron_variant BRCA-EU 21 38487568 38487568 single base substitution A G intron_variant BRCA-EU 21 38487947 38487947 single base substitution A C intron_variant BRCA-EU 21 38488405 38488405 single base substitution C T intron_variant BRCA-EU 21 38488897 38488897 single base substitution T C intron_variant BRCA-EU 21 38489721 38489721 single base substitution G A intron_variant BRCA-EU 21 38490648 38490648 single base substitution G C intron_variant BRCA-EU 21 38490745 38490745 single base substitution G T intron_variant BRCA-EU 21 38493069 38493069 single base substitution G A intron_variant BRCA-EU 21 38495125 38495125 single base substitution C G intron_variant BRCA-EU 21 38495394 38495394 single base substitution C T intron_variant BRCA-EU 21 38495449 38495449 single base substitution A G intron_variant BRCA-EU 21 38495733 38495733 single base substitution A G intron_variant BRCA-EU 21 38497137 38497137 single base substitution C G intron_variant BRCA-EU 21 38497960 38497960 single base substitution C T intron_variant BRCA-EU 21 38498775 38498775 single base substitution G A intron_variant BRCA-EU 21 38498907 38498907 single base substitution T G intron_variant BRCA-EU 21 38500459 38500459 single base substitution C T intron_variant BRCA-EU 21 38501140 38501140 single base substitution C T intron_variant BRCA-EU 21 38501635 38501635 single base substitution A G intron_variant BRCA-EU 21 38502313 38502313 single base substitution T C intron_variant BRCA-EU 21 38503887 38503887 single base substitution G C intron_variant BRCA-EU 21 38503914 38503914 single base substitution C G intron_variant BRCA-EU 21 38504711 38504711 single base substitution C G intron_variant BRCA-EU 21 38505159 38505159 deletion of <=200bp T - intron_variant BRCA-EU 21 38505572 38505572 single base substitution T A intron_variant BRCA-EU 21 38508443 38508443 single base substitution C G downstream_gene_variant BRCA-EU 21 38508443 38508443 single base substitution C G intron_variant BRCA-EU 21 38510534 38510534 single base substitution G C downstream_gene_variant BRCA-EU 21 38510534 38510534 single base substitution G C intron_variant BRCA-EU 21 38511099 38511099 single base substitution C G downstream_gene_variant BRCA-EU 21 38511099 38511099 single base substitution C G intron_variant BRCA-EU 21 38512740 38512740 single base substitution C A downstream_gene_variant BRCA-EU 21 38512740 38512740 single base substitution C A intron_variant BRCA-EU 21 38512740 38512740 single base substitution C A upstream_gene_variant BRCA-EU 21 38512835 38512835 single base substitution G A intron_variant BRCA-EU 21 38512835 38512835 single base substitution G A upstream_gene_variant BRCA-EU 21 38513373 38513373 single base substitution C T intron_variant BRCA-EU 21 38513373 38513373 single base substitution C T upstream_gene_variant BRCA-EU 21 38513487 38513487 single base substitution C G intron_variant BRCA-EU 21 38513487 38513487 single base substitution C G upstream_gene_variant BRCA-EU 21 38514097 38514097 deletion of <=200bp A - intron_variant BRCA-EU 21 38514097 38514097 deletion of <=200bp A - upstream_gene_variant BRCA-EU 21 38514305 38514305 single base substitution T C intron_variant BRCA-EU 21 38514305 38514305 single base substitution T C upstream_gene_variant BRCA-EU 21 38514323 38514323 single base substitution C T intron_variant BRCA-EU 21 38514323 38514323 single base substitution C T upstream_gene_variant BRCA-EU 21 38516330 38516330 single base substitution G C intron_variant BRCA-EU 21 38516330 38516330 single base substitution G C upstream_gene_variant BRCA-EU 21 38520762 38520762 single base substitution C G intron_variant BRCA-EU 21 38520762 38520762 single base substitution C G upstream_gene_variant BRCA-EU 21 38521115 38521115 single base substitution G T intron_variant BRCA-EU 21 38521115 38521115 single base substitution G T upstream_gene_variant BRCA-EU 21 38523599 38523599 single base substitution C G intron_variant BRCA-EU 21 38523599 38523599 single base substitution C G upstream_gene_variant BRCA-EU 21 38523713 38523713 deletion of <=200bp T - intron_variant BRCA-EU 21 38523713 38523713 deletion of <=200bp T - upstream_gene_variant BRCA-EU 21 38523818 38523818 single base substitution G T intron_variant BRCA-EU 21 38523818 38523818 single base substitution G T upstream_gene_variant BRCA-EU 21 38524211 38524211 single base substitution G A exon_variant BRCA-EU 21 38524211 38524211 single base substitution G A synonymous_variant L128L 384G>A BRCA-EU 21 38524211 38524211 single base substitution G A synonymous_variant L455L 1365G>A BRCA-EU 21 38524211 38524211 single base substitution G A synonymous_variant L747L 2241G>A BRCA-EU 21 38524211 38524211 single base substitution G A synonymous_variant L765L 2295G>A BRCA-EU 21 38524211 38524211 single base substitution G A upstream_gene_variant BRCA-EU 21 38524243 38524243 deletion of <=200bp A - exon_variant BRCA-EU 21 38524243 38524243 deletion of <=200bp A - frameshift_variant Q139 BRCA-EU 21 38524243 38524243 deletion of <=200bp A - frameshift_variant Q466 BRCA-EU 21 38524243 38524243 deletion of <=200bp A - frameshift_variant Q758 BRCA-EU 21 38524243 38524243 deletion of <=200bp A - frameshift_variant Q776 BRCA-EU 21 38524243 38524243 deletion of <=200bp A - upstream_gene_variant BRCA-EU 21 38524422 38524422 single base substitution G A downstream_gene_variant BRCA-EU 21 38524422 38524422 single base substitution G A intron_variant BRCA-EU 21 38524422 38524422 single base substitution G A upstream_gene_variant BRCA-EU 21 38524773 38524773 single base substitution G T downstream_gene_variant BRCA-EU 21 38524773 38524773 single base substitution G T intron_variant BRCA-EU 21 38524773 38524773 single base substitution G T upstream_gene_variant BRCA-EU 21 38525505 38525505 single base substitution C T downstream_gene_variant BRCA-EU 21 38525505 38525505 single base substitution C T exon_variant BRCA-EU 21 38525505 38525505 single base substitution C T synonymous_variant L253L 757C>T BRCA-EU 21 38525505 38525505 single base substitution C T synonymous_variant L27L 79C>T BRCA-EU 21 38525505 38525505 single base substitution C T synonymous_variant L580L 1738C>T BRCA-EU 21 38525505 38525505 single base substitution C T synonymous_variant L872L 2614C>T BRCA-EU 21 38525505 38525505 single base substitution C T synonymous_variant L890L 2668C>T BRCA-EU 21 38525505 38525505 single base substitution C T upstream_gene_variant BRCA-EU 21 38527194 38527194 single base substitution C A downstream_gene_variant BRCA-EU 21 38527194 38527194 single base substitution C A intron_variant BRCA-EU 21 38527194 38527194 single base substitution C A upstream_gene_variant BRCA-EU 21 38529104 38529104 single base substitution C T downstream_gene_variant BRCA-EU 21 38529104 38529104 single base substitution C T exon_variant BRCA-EU 21 38529104 38529104 single base substitution C T missense_variant P100L 299C>T BRCA-EU 21 38529104 38529104 single base substitution C T missense_variant P945L 2834C>T BRCA-EU 21 38529104 38529104 single base substitution C T missense_variant P963L 2888C>T BRCA-EU 21 38529104 38529104 single base substitution C T upstream_gene_variant BRCA-EU 21 38529511 38529511 single base substitution C T downstream_gene_variant BRCA-EU 21 38529511 38529511 single base substitution C T intron_variant BRCA-EU 21 38529511 38529511 single base substitution C T missense_variant S151F 452C>T BRCA-EU 21 38529511 38529511 single base substitution C T upstream_gene_variant BRCA-EU 21 38530141 38530141 single base substitution T G downstream_gene_variant BRCA-EU 21 38530141 38530141 single base substitution T G intron_variant BRCA-EU 21 38530141 38530141 single base substitution T G upstream_gene_variant BRCA-EU 21 38530355 38530355 single base substitution G C downstream_gene_variant BRCA-EU 21 38530355 38530355 single base substitution G C intron_variant BRCA-EU 21 38530355 38530355 single base substitution G C upstream_gene_variant BRCA-EU 21 38532006 38532006 single base substitution C G exon_variant BRCA-EU 21 38532006 38532006 single base substitution C G missense_variant R1000G 2998C>G BRCA-EU 21 38532006 38532006 single base substitution C G missense_variant R155G 463C>G BRCA-EU 21 38532006 38532006 single base substitution C G missense_variant R982G 2944C>G BRCA-EU 21 38535130 38535130 single base substitution C T intron_variant BRCA-EU 21 38535601 38535601 single base substitution A G intron_variant BRCA-EU 21 38535673 38535673 single base substitution A T intron_variant BRCA-EU 21 38536614 38536614 single base substitution G C intron_variant BRCA-EU 21 38537909 38537909 single base substitution C T exon_variant BRCA-EU 21 38537909 38537909 single base substitution C T synonymous_variant F1113F 3339C>T BRCA-EU 21 38537909 38537909 single base substitution C T synonymous_variant F1131F 3393C>T BRCA-EU 21 38537909 38537909 single base substitution C T synonymous_variant F286F 858C>T BRCA-EU 21 38538141 38538141 single base substitution C G downstream_gene_variant BRCA-EU 21 38538141 38538141 single base substitution C G exon_variant BRCA-EU 21 38538141 38538141 single base substitution C G missense_variant P1209A 3625C>G BRCA-EU 21 38539857 38539857 single base substitution G C downstream_gene_variant BRCA-EU 21 38539857 38539857 single base substitution G C missense_variant V1468L 4402G>C BRCA-EU 21 38539857 38539857 single base substitution G C splice_region_variant BRCA-EU 21 38540478 38540478 single base substitution A T downstream_gene_variant BRCA-EU 21 38540478 38540478 single base substitution A T intron_variant BRCA-EU 21 38540502 38540502 single base substitution C G downstream_gene_variant BRCA-EU 21 38540502 38540502 single base substitution C G intron_variant BRCA-EU 21 38540691 38540691 single base substitution G C downstream_gene_variant BRCA-EU 21 38540691 38540691 single base substitution G C intron_variant BRCA-EU 21 38541361 38541361 single base substitution T G downstream_gene_variant BRCA-EU 21 38541361 38541361 single base substitution T G intron_variant BRCA-EU 21 38541396 38541396 single base substitution C T downstream_gene_variant BRCA-EU 21 38541396 38541396 single base substitution C T intron_variant BRCA-EU 21 38544377 38544377 single base substitution G T intron_variant BRCA-EU 21 38545570 38545570 single base substitution C T intron_variant BRCA-EU 21 38546828 38546828 single base substitution C T intron_variant BRCA-EU 21 38546922 38546922 single base substitution G A intron_variant BRCA-EU 21 38548351 38548351 single base substitution C T intron_variant BRCA-EU 21 38548728 38548728 single base substitution G A intron_variant BRCA-EU 21 38550553 38550553 single base substitution C T intron_variant BRCA-EU 21 38550974 38550974 single base substitution T C intron_variant BRCA-EU 21 38551985 38551985 deletion of <=200bp G - intron_variant BRCA-EU 21 38552229 38552229 single base substitution C G intron_variant BRCA-EU 21 38552386 38552386 single base substitution C G intron_variant BRCA-EU 21 38552621 38552621 single base substitution C T intron_variant BRCA-EU 21 38552642 38552642 single base substitution C G intron_variant BRCA-EU 21 38553907 38553907 single base substitution C T intron_variant BRCA-EU 21 38554756 38554756 single base substitution G A intron_variant BRCA-EU 21 38555250 38555250 deletion of <=200bp A - intron_variant BRCA-EU 21 38555250 38555250 single base substitution A T intron_variant BRCA-EU 21 38556990 38556990 single base substitution C T intron_variant BRCA-EU 21 38557004 38557004 single base substitution C T intron_variant BRCA-EU 21 38557854 38557854 single base substitution A G intron_variant BRCA-EU 21 38558743 38558746 deletion of <=200bp TTTA - downstream_gene_variant BRCA-EU 21 38558743 38558746 deletion of <=200bp TTTA - intron_variant BRCA-EU 21 38558743 38558746 deletion of <=200bp TTTA - upstream_gene_variant BRCA-EU 21 38561122 38561122 single base substitution G T downstream_gene_variant BRCA-EU 21 38561122 38561122 single base substitution G T intron_variant BRCA-EU 21 38561122 38561122 single base substitution G T upstream_gene_variant BRCA-EU 21 38561358 38561358 single base substitution C A downstream_gene_variant BRCA-EU 21 38561358 38561358 single base substitution C A intron_variant BRCA-EU 21 38561358 38561358 single base substitution C A upstream_gene_variant BRCA-EU 21 38561515 38561515 deletion of <=200bp T - downstream_gene_variant BRCA-EU 21 38561515 38561515 deletion of <=200bp T - intron_variant BRCA-EU 21 38561515 38561515 deletion of <=200bp T - upstream_gene_variant BRCA-EU 21 38566633 38566633 single base substitution G A intron_variant BRCA-EU 21 38566633 38566633 single base substitution G A upstream_gene_variant BRCA-EU 21 38566832 38566836 multiple base substitution (>=2bp and <=200bp) GGTCA GAT exon_variant BRCA-EU 21 38566832 38566836 multiple base substitution (>=2bp and <=200bp) GGTCA GAT intron_variant BRCA-EU 21 38566833 38566833 single base substitution G A exon_variant BRCA-EU 21 38566833 38566833 single base substitution G A intron_variant BRCA-EU 21 38566937 38566937 single base substitution G C exon_variant BRCA-EU 21 38566937 38566937 single base substitution G C intron_variant BRCA-EU 21 38566994 38566994 single base substitution A G exon_variant BRCA-EU 21 38566994 38566994 single base substitution A G intron_variant BRCA-EU 21 38567783 38567783 single base substitution C A intron_variant BRCA-EU 21 38567860 38567860 single base substitution C T intron_variant BRCA-EU 21 38568121 38568121 single base substitution C T exon_variant BRCA-EU 21 38568121 38568121 single base substitution C T missense_variant S1788F 5363C>T BRCA-EU 21 38568121 38568121 single base substitution C T missense_variant S79F 236C>T BRCA-EU 21 38568274 38568274 single base substitution C T exon_variant BRCA-EU 21 38568274 38568274 single base substitution C T missense_variant S130F 389C>T BRCA-EU 21 38568274 38568274 single base substitution C T missense_variant S1839F 5516C>T BRCA-EU 21 38569071 38569071 single base substitution C G intron_variant BRCA-EU 21 38573607 38573607 single base substitution G C downstream_gene_variant BRCA-EU 21 38573607 38573607 single base substitution G C intron_variant BRCA-EU 21 38573836 38573836 single base substitution C G downstream_gene_variant BRCA-EU 21 38573836 38573836 single base substitution C G exon_variant BRCA-EU 21 38573836 38573836 single base substitution C G synonymous_variant P2013P 6039C>G BRCA-EU 21 38573836 38573836 single base substitution C G synonymous_variant P304P 912C>G BRCA-EU 21 38575314 38575314 single base substitution G A 3_prime_UTR_variant BRCA-EU 21 38575314 38575314 single base substitution G A downstream_gene_variant BRCA-EU 21 38575314 38575314 single base substitution G A exon_variant BRCA-EU 21 38575726 38575726 single base substitution G T downstream_gene_variant BRCA-EU 21 38577098 38577098 single base substitution G A downstream_gene_variant BRCA-EU 21 38578587 38578587 single base substitution G A downstream_gene_variant BRCA-EU 21 38579854 38579855 deletion of <=200bp TC - downstream_gene_variant BRCA-EU 21 38579993 38579993 single base substitution C T downstream_gene_variant BRCA-FR 21 38441998 38441998 single base substitution G C upstream_gene_variant BRCA-FR 21 38451896 38451896 single base substitution G A intron_variant BRCA-FR 21 38451896 38451896 single base substitution G A upstream_gene_variant BRCA-FR 21 38454829 38454829 single base substitution C T 5_prime_UTR_variant BRCA-FR 21 38454829 38454829 single base substitution C T intron_variant BRCA-FR 21 38454829 38454829 single base substitution C T upstream_gene_variant BRCA-FR 21 38465013 38465013 single base substitution C G intron_variant BRCA-FR 21 38471626 38471626 single base substitution G A downstream_gene_variant BRCA-FR 21 38471626 38471626 single base substitution G A intron_variant BRCA-FR 21 38479260 38479260 single base substitution T A intron_variant BRCA-FR 21 38479260 38479260 single base substitution T A upstream_gene_variant BRCA-FR 21 38482420 38482420 single base substitution G A intron_variant BRCA-FR 21 38483156 38483156 single base substitution C A intron_variant BRCA-FR 21 38487333 38487333 single base substitution G A intron_variant BRCA-FR 21 38487947 38487947 single base substitution A C intron_variant BRCA-FR 21 38490745 38490745 single base substitution G T intron_variant BRCA-FR 21 38497137 38497137 single base substitution C G intron_variant BRCA-FR 21 38497493 38497493 single base substitution G C intron_variant BRCA-FR 21 38497514 38497514 single base substitution C G intron_variant BRCA-FR 21 38497775 38497775 single base substitution G A intron_variant BRCA-FR 21 38503914 38503914 single base substitution C G intron_variant BRCA-FR 21 38511099 38511099 single base substitution C G downstream_gene_variant BRCA-FR 21 38511099 38511099 single base substitution C G intron_variant BRCA-FR 21 38521115 38521115 single base substitution G T intron_variant BRCA-FR 21 38521115 38521115 single base substitution G T upstream_gene_variant BRCA-FR 21 38524422 38524422 single base substitution G A downstream_gene_variant BRCA-FR 21 38524422 38524422 single base substitution G A intron_variant BRCA-FR 21 38524422 38524422 single base substitution G A upstream_gene_variant BRCA-FR 21 38530141 38530141 single base substitution T G downstream_gene_variant BRCA-FR 21 38530141 38530141 single base substitution T G intron_variant BRCA-FR 21 38530141 38530141 single base substitution T G upstream_gene_variant BRCA-FR 21 38530221 38530221 single base substitution C T downstream_gene_variant BRCA-FR 21 38530221 38530221 single base substitution C T intron_variant BRCA-FR 21 38530221 38530221 single base substitution C T upstream_gene_variant BRCA-FR 21 38540502 38540502 single base substitution C G downstream_gene_variant BRCA-FR 21 38540502 38540502 single base substitution C G intron_variant BRCA-FR 21 38555752 38555752 single base substitution C T intron_variant BRCA-UK 21 38486234 38486234 single base substitution G T intron_variant BRCA-UK 21 38486248 38486248 single base substitution T C intron_variant BRCA-UK 21 38503887 38503887 single base substitution G C intron_variant BRCA-UK 21 38527775 38527775 single base substitution C G downstream_gene_variant BRCA-UK 21 38527775 38527775 single base substitution C G intron_variant BRCA-UK 21 38527775 38527775 single base substitution C G upstream_gene_variant BRCA-UK 21 38548351 38548351 single base substitution C T intron_variant BRCA-UK 21 38572704 38572704 single base substitution C G downstream_gene_variant BRCA-UK 21 38572704 38572704 single base substitution C G intron_variant BRCA-US 21 38460338 38460338 single base substitution T A exon_variant BRCA-US 21 38460338 38460338 single base substitution T A intron_variant BRCA-US 21 38460338 38460338 single base substitution T A upstream_gene_variant BRCA-US 21 38467718 38467718 single base substitution C G downstream_gene_variant BRCA-US 21 38467718 38467718 single base substitution C G exon_variant BRCA-US 21 38467718 38467718 single base substitution C G intron_variant BRCA-US 21 38467718 38467718 single base substitution C G missense_variant I234M 702C>G BRCA-US 21 38467718 38467718 single base substitution C G missense_variant I252M 756C>G BRCA-US 21 38511012 38511012 single base substitution G T downstream_gene_variant BRCA-US 21 38511012 38511012 single base substitution G T splice_region_variant BRCA-US 21 38511012 38511012 single base substitution G T stop_gained E243* 727G>T BRCA-US 21 38511012 38511012 single base substitution G T stop_gained E535* 1603G>T BRCA-US 21 38511012 38511012 single base substitution G T stop_gained E553* 1657G>T BRCA-US 21 38516840 38516840 single base substitution C T exon_variant BRCA-US 21 38516840 38516840 single base substitution C T synonymous_variant L286L 858C>T BRCA-US 21 38516840 38516840 single base substitution C T synonymous_variant L578L 1734C>T BRCA-US 21 38516840 38516840 single base substitution C T synonymous_variant L596L 1788C>T BRCA-US 21 38516840 38516840 single base substitution C T upstream_gene_variant BRCA-US 21 38522384 38522384 single base substitution C A exon_variant BRCA-US 21 38522384 38522384 single base substitution C A missense_variant L399I 1195C>A BRCA-US 21 38522384 38522384 single base substitution C A missense_variant L691I 2071C>A BRCA-US 21 38522384 38522384 single base substitution C A missense_variant L709I 2125C>A BRCA-US 21 38522384 38522384 single base substitution C A missense_variant L72I 214C>A BRCA-US 21 38522384 38522384 single base substitution C A upstream_gene_variant BRCA-US 21 38522414 38522414 single base substitution G A exon_variant BRCA-US 21 38522414 38522414 single base substitution G A missense_variant E409K 1225G>A BRCA-US 21 38522414 38522414 single base substitution G A missense_variant E701K 2101G>A BRCA-US 21 38522414 38522414 single base substitution G A missense_variant E719K 2155G>A BRCA-US 21 38522414 38522414 single base substitution G A missense_variant E82K 244G>A BRCA-US 21 38522414 38522414 single base substitution G A upstream_gene_variant BRCA-US 21 38525425 38525425 single base substitution G A 5_prime_UTR_variant BRCA-US 21 38525425 38525425 single base substitution G A downstream_gene_variant BRCA-US 21 38525425 38525425 single base substitution G A exon_variant BRCA-US 21 38525425 38525425 single base substitution G A missense_variant R226K 677G>A BRCA-US 21 38525425 38525425 single base substitution G A missense_variant R553K 1658G>A BRCA-US 21 38525425 38525425 single base substitution G A missense_variant R845K 2534G>A BRCA-US 21 38525425 38525425 single base substitution G A missense_variant R863K 2588G>A BRCA-US 21 38525425 38525425 single base substitution G A upstream_gene_variant BRCA-US 21 38538313 38538313 single base substitution C G downstream_gene_variant BRCA-US 21 38538313 38538313 single base substitution C G exon_variant BRCA-US 21 38538313 38538313 single base substitution C G missense_variant S1266C 3797C>G BRCA-US 21 38538480 38538480 single base substitution C T downstream_gene_variant BRCA-US 21 38538480 38538480 single base substitution C T exon_variant BRCA-US 21 38538480 38538480 single base substitution C T missense_variant P1322S 3964C>T BRCA-US 21 38538542 38538542 single base substitution G T downstream_gene_variant BRCA-US 21 38538542 38538542 single base substitution G T exon_variant BRCA-US 21 38538542 38538542 single base substitution G T missense_variant L1342F 4026G>T BRCA-US 21 38538681 38538681 single base substitution C T downstream_gene_variant BRCA-US 21 38538681 38538681 single base substitution C T exon_variant BRCA-US 21 38538681 38538681 single base substitution C T missense_variant H1389Y 4165C>T BRCA-US 21 38567987 38567987 single base substitution G C exon_variant BRCA-US 21 38567987 38567987 single base substitution G C missense_variant E1743D 5229G>C BRCA-US 21 38567987 38567987 single base substitution G C missense_variant E34D 102G>C BRCA-US 21 38569977 38569977 single base substitution G A exon_variant BRCA-US 21 38569977 38569977 single base substitution G A missense_variant D187N 559G>A BRCA-US 21 38569977 38569977 single base substitution G A missense_variant D1896N 5686G>A BRCA-US 21 38572589 38572589 single base substitution G A downstream_gene_variant BRCA-US 21 38572589 38572589 single base substitution G A exon_variant BRCA-US 21 38572589 38572589 single base substitution G A synonymous_variant V1969V 5907G>A BRCA-US 21 38572589 38572589 single base substitution G A synonymous_variant V260V 780G>A BTCA-JP 21 38444526 38444526 single base substitution G A upstream_gene_variant BTCA-JP 21 38444718 38444718 single base substitution T G upstream_gene_variant BTCA-JP 21 38498342 38498342 deletion of <=200bp T - intron_variant BTCA-JP 21 38516824 38516824 single base substitution G C splice_acceptor_variant BTCA-JP 21 38516824 38516824 single base substitution G C upstream_gene_variant BTCA-JP 21 38524243 38524243 deletion of <=200bp A - exon_variant BTCA-JP 21 38524243 38524243 deletion of <=200bp A - frameshift_variant Q139 BTCA-JP 21 38524243 38524243 deletion of <=200bp A - frameshift_variant Q466 BTCA-JP 21 38524243 38524243 deletion of <=200bp A - frameshift_variant Q758 BTCA-JP 21 38524243 38524243 deletion of <=200bp A - frameshift_variant Q776 BTCA-JP 21 38524243 38524243 deletion of <=200bp A - upstream_gene_variant BTCA-JP 21 38524479 38524479 single base substitution G A downstream_gene_variant BTCA-JP 21 38524479 38524479 single base substitution G A intron_variant BTCA-JP 21 38524479 38524479 single base substitution G A upstream_gene_variant BTCA-JP 21 38528937 38528937 single base substitution G T downstream_gene_variant BTCA-JP 21 38528937 38528937 single base substitution G T intron_variant BTCA-JP 21 38528937 38528937 single base substitution G T upstream_gene_variant BTCA-JP 21 38532044 38532044 single base substitution A G exon_variant BTCA-JP 21 38532044 38532044 single base substitution A G synonymous_variant A1012A 3036A>G BTCA-JP 21 38532044 38532044 single base substitution A G synonymous_variant A167A 501A>G BTCA-JP 21 38532044 38532044 single base substitution A G synonymous_variant A994A 2982A>G BTCA-JP 21 38538016 38538016 single base substitution A G downstream_gene_variant BTCA-JP 21 38538016 38538016 single base substitution A G exon_variant BTCA-JP 21 38538016 38538016 single base substitution A G missense_variant N1149S 3446A>G BTCA-JP 21 38538016 38538016 single base substitution A G missense_variant N1167S 3500A>G BTCA-JP 21 38538678 38538678 single base substitution C T downstream_gene_variant BTCA-JP 21 38538678 38538678 single base substitution C T exon_variant BTCA-JP 21 38538678 38538678 single base substitution C T missense_variant H1388Y 4162C>T CESC-US 21 38445615 38445615 insertion of <=200bp - GCT 5_prime_UTR_variant CESC-US 21 38445615 38445615 insertion of <=200bp - GCT exon_variant CESC-US 21 38460535 38460535 single base substitution C T exon_variant CESC-US 21 38460535 38460535 single base substitution C T intron_variant CESC-US 21 38460535 38460535 single base substitution C T missense_variant S76F 227C>T CESC-US 21 38460535 38460535 single base substitution C T upstream_gene_variant CESC-US 21 38467758 38467758 single base substitution G C downstream_gene_variant CESC-US 21 38467758 38467758 single base substitution G C exon_variant CESC-US 21 38467758 38467758 single base substitution G C intron_variant CESC-US 21 38505018 38505018 single base substitution G A exon_variant CESC-US 21 38505018 38505018 single base substitution G A synonymous_variant K155K 465G>A CESC-US 21 38505018 38505018 single base substitution G A synonymous_variant K447K 1341G>A CESC-US 21 38505018 38505018 single base substitution G A synonymous_variant K465K 1395G>A CESC-US 21 38512877 38512877 single base substitution A G exon_variant CESC-US 21 38512877 38512877 single base substitution A G missense_variant E249G 746A>G CESC-US 21 38512877 38512877 single base substitution A G missense_variant E541G 1622A>G CESC-US 21 38512877 38512877 single base substitution A G missense_variant E559G 1676A>G CESC-US 21 38512877 38512877 single base substitution A G upstream_gene_variant CESC-US 21 38519790 38519790 single base substitution G C exon_variant CESC-US 21 38519790 38519790 single base substitution G C missense_variant E325Q 973G>C CESC-US 21 38519790 38519790 single base substitution G C missense_variant E32Q 94G>C CESC-US 21 38519790 38519790 single base substitution G C missense_variant E617Q 1849G>C CESC-US 21 38519790 38519790 single base substitution G C missense_variant E635Q 1903G>C CESC-US 21 38523150 38523150 single base substitution C T exon_variant CESC-US 21 38523150 38523150 single base substitution C T missense_variant P111S 331C>T CESC-US 21 38523150 38523150 single base substitution C T missense_variant P438S 1312C>T CESC-US 21 38523150 38523150 single base substitution C T missense_variant P730S 2188C>T CESC-US 21 38523150 38523150 single base substitution C T missense_variant P748S 2242C>T CESC-US 21 38523150 38523150 single base substitution C T upstream_gene_variant CESC-US 21 38525250 38525250 single base substitution G C downstream_gene_variant CESC-US 21 38525250 38525250 single base substitution G C splice_acceptor_variant CESC-US 21 38525250 38525250 single base substitution G C upstream_gene_variant CESC-US 21 38528979 38528979 single base substitution C G downstream_gene_variant CESC-US 21 38528979 38528979 single base substitution C G exon_variant CESC-US 21 38528979 38528979 single base substitution C G missense_variant F58L 174C>G CESC-US 21 38528979 38528979 single base substitution C G missense_variant F903L 2709C>G CESC-US 21 38528979 38528979 single base substitution C G missense_variant F921L 2763C>G CESC-US 21 38528979 38528979 single base substitution C G upstream_gene_variant CESC-US 21 38529195 38529195 single base substitution C G downstream_gene_variant CESC-US 21 38529195 38529195 single base substitution C G exon_variant CESC-US 21 38529195 38529195 single base substitution C G missense_variant F130L 390C>G CESC-US 21 38529195 38529195 single base substitution C G missense_variant F975L 2925C>G CESC-US 21 38529195 38529195 single base substitution C G missense_variant F993L 2979C>G CESC-US 21 38529195 38529195 single base substitution C G upstream_gene_variant CESC-US 21 38569941 38569941 single base substitution G A exon_variant CESC-US 21 38569941 38569941 single base substitution G A missense_variant D175N 523G>A CESC-US 21 38569941 38569941 single base substitution G A missense_variant D1884N 5650G>A CLLE-ES 21 38449643 38449643 single base substitution A C intron_variant CLLE-ES 21 38449643 38449643 single base substitution A C upstream_gene_variant CLLE-ES 21 38460341 38460341 single base substitution C T exon_variant CLLE-ES 21 38460341 38460341 single base substitution C T intron_variant CLLE-ES 21 38460341 38460341 single base substitution C T upstream_gene_variant CLLE-ES 21 38468672 38468672 single base substitution A C downstream_gene_variant CLLE-ES 21 38468672 38468672 single base substitution A C intron_variant CLLE-ES 21 38506965 38506965 single base substitution A C intron_variant CLLE-ES 21 38524047 38524047 single base substitution T C intron_variant CLLE-ES 21 38524047 38524047 single base substitution T C upstream_gene_variant CLLE-ES 21 38526218 38526218 single base substitution G A downstream_gene_variant CLLE-ES 21 38526218 38526218 single base substitution G A intron_variant CLLE-ES 21 38526218 38526218 single base substitution G A upstream_gene_variant CLLE-ES 21 38526306 38526306 single base substitution C T downstream_gene_variant CLLE-ES 21 38526306 38526306 single base substitution C T intron_variant CLLE-ES 21 38526306 38526306 single base substitution C T upstream_gene_variant CLLE-ES 21 38567469 38567469 single base substitution G T intron_variant CLLE-ES 21 38572928 38572928 single base substitution A T downstream_gene_variant CLLE-ES 21 38572928 38572928 single base substitution A T intron_variant COAD-US 21 38444761 38444761 single base substitution G T upstream_gene_variant COAD-US 21 38444815 38444815 deletion of <=200bp T - upstream_gene_variant COAD-US 21 38460554 38460554 single base substitution C T exon_variant COAD-US 21 38460554 38460554 single base substitution C T intron_variant COAD-US 21 38460554 38460554 single base substitution C T synonymous_variant C82C 246C>T COAD-US 21 38460554 38460554 single base substitution C T upstream_gene_variant COAD-US 21 38463650 38463650 single base substitution A C exon_variant COAD-US 21 38463650 38463650 single base substitution A C intron_variant COAD-US 21 38463650 38463650 single base substitution A C missense_variant I162L 484A>C COAD-US 21 38463650 38463650 single base substitution A C missense_variant I180L 538A>C COAD-US 21 38463650 38463650 single base substitution A C upstream_gene_variant COAD-US 21 38467695 38467695 single base substitution G T downstream_gene_variant COAD-US 21 38467695 38467695 single base substitution G T exon_variant COAD-US 21 38467695 38467695 single base substitution G T intron_variant COAD-US 21 38467695 38467695 single base substitution G T stop_gained E227* 679G>T COAD-US 21 38467695 38467695 single base substitution G T stop_gained E245* 733G>T COAD-US 21 38512962 38512962 insertion of <=200bp - A exon_variant COAD-US 21 38512962 38512962 insertion of <=200bp - A frameshift_variant L277L? COAD-US 21 38512962 38512962 insertion of <=200bp - A frameshift_variant L569L? COAD-US 21 38512962 38512962 insertion of <=200bp - A frameshift_variant L587L? COAD-US 21 38512962 38512962 insertion of <=200bp - A upstream_gene_variant COAD-US 21 38520856 38520856 single base substitution G A exon_variant COAD-US 21 38520856 38520856 single base substitution G A intron_variant COAD-US 21 38520856 38520856 single base substitution G A missense_variant R366H 1097G>A COAD-US 21 38520856 38520856 single base substitution G A missense_variant R658H 1973G>A COAD-US 21 38520856 38520856 single base substitution G A missense_variant R676H 2027G>A COAD-US 21 38520856 38520856 single base substitution G A upstream_gene_variant COAD-US 21 38524222 38524222 single base substitution A C exon_variant COAD-US 21 38524222 38524222 single base substitution A C missense_variant K132T 395A>C COAD-US 21 38524222 38524222 single base substitution A C missense_variant K459T 1376A>C COAD-US 21 38524222 38524222 single base substitution A C missense_variant K751T 2252A>C COAD-US 21 38524222 38524222 single base substitution A C missense_variant K769T 2306A>C COAD-US 21 38524222 38524222 single base substitution A C upstream_gene_variant COAD-US 21 38524242 38524242 insertion of <=200bp - A exon_variant COAD-US 21 38524242 38524242 insertion of <=200bp - A frameshift_variant Q139T? COAD-US 21 38524242 38524242 insertion of <=200bp - A frameshift_variant Q466T? COAD-US 21 38524242 38524242 insertion of <=200bp - A frameshift_variant Q758T? COAD-US 21 38524242 38524242 insertion of <=200bp - A frameshift_variant Q776T? COAD-US 21 38524242 38524242 insertion of <=200bp - A upstream_gene_variant COAD-US 21 38524296 38524296 single base substitution G T downstream_gene_variant COAD-US 21 38524296 38524296 single base substitution G T exon_variant COAD-US 21 38524296 38524296 single base substitution G T stop_gained E157* 469G>T COAD-US 21 38524296 38524296 single base substitution G T stop_gained E484* 1450G>T COAD-US 21 38524296 38524296 single base substitution G T stop_gained E776* 2326G>T COAD-US 21 38524296 38524296 single base substitution G T stop_gained E794* 2380G>T COAD-US 21 38524296 38524296 single base substitution G T upstream_gene_variant COAD-US 21 38525293 38525293 single base substitution G T downstream_gene_variant COAD-US 21 38525293 38525293 single base substitution G T exon_variant COAD-US 21 38525293 38525293 single base substitution G T missense_variant R182I 545G>T COAD-US 21 38525293 38525293 single base substitution G T missense_variant R509I 1526G>T COAD-US 21 38525293 38525293 single base substitution G T missense_variant R801I 2402G>T COAD-US 21 38525293 38525293 single base substitution G T missense_variant R819I 2456G>T COAD-US 21 38525293 38525293 single base substitution G T upstream_gene_variant COAD-US 21 38525356 38525356 single base substitution T C downstream_gene_variant COAD-US 21 38525356 38525356 single base substitution T C exon_variant COAD-US 21 38525356 38525356 single base substitution T C missense_variant M203T 608T>C COAD-US 21 38525356 38525356 single base substitution T C missense_variant M530T 1589T>C COAD-US 21 38525356 38525356 single base substitution T C missense_variant M822T 2465T>C COAD-US 21 38525356 38525356 single base substitution T C missense_variant M840T 2519T>C COAD-US 21 38525356 38525356 single base substitution T C upstream_gene_variant COAD-US 21 38525502 38525502 single base substitution T A downstream_gene_variant COAD-US 21 38525502 38525502 single base substitution T A exon_variant COAD-US 21 38525502 38525502 single base substitution T A missense_variant F252I 754T>A COAD-US 21 38525502 38525502 single base substitution T A missense_variant F26I 76T>A COAD-US 21 38525502 38525502 single base substitution T A missense_variant F579I 1735T>A COAD-US 21 38525502 38525502 single base substitution T A missense_variant F871I 2611T>A COAD-US 21 38525502 38525502 single base substitution T A missense_variant F889I 2665T>A COAD-US 21 38525502 38525502 single base substitution T A upstream_gene_variant COAD-US 21 38536485 38536485 single base substitution G T exon_variant COAD-US 21 38536485 38536485 single base substitution G T missense_variant M1083I 3249G>T COAD-US 21 38536485 38536485 single base substitution G T missense_variant M1101I 3303G>T COAD-US 21 38536485 38536485 single base substitution G T missense_variant M256I 768G>T COAD-US 21 38538247 38538247 single base substitution C A downstream_gene_variant COAD-US 21 38538247 38538247 single base substitution C A exon_variant COAD-US 21 38538247 38538247 single base substitution C A missense_variant S1244Y 3731C>A COAD-US 21 38538307 38538307 single base substitution A G downstream_gene_variant COAD-US 21 38538307 38538307 single base substitution A G exon_variant COAD-US 21 38538307 38538307 single base substitution A G missense_variant Q1264R 3791A>G COAD-US 21 38539861 38539861 single base substitution C A downstream_gene_variant COAD-US 21 38539861 38539861 single base substitution C A exon_variant COAD-US 21 38539861 38539861 single base substitution C A missense_variant S1469Y 4406C>A COAD-US 21 38555142 38555142 insertion of <=200bp - A exon_variant COAD-US 21 38555142 38555142 insertion of <=200bp - A frameshift_variant E1562R? COAD-US 21 38568009 38568009 single base substitution G C exon_variant COAD-US 21 38568009 38568009 single base substitution G C missense_variant D1751H 5251G>C COAD-US 21 38568009 38568009 single base substitution G C missense_variant D42H 124G>C COAD-US 21 38568308 38568308 single base substitution C T exon_variant COAD-US 21 38568308 38568308 single base substitution C T synonymous_variant H141H 423C>T COAD-US 21 38568308 38568308 single base substitution C T synonymous_variant H1850H 5550C>T COCA-CN 21 38460723 38460723 single base substitution T C intron_variant COCA-CN 21 38460723 38460723 single base substitution T C upstream_gene_variant COCA-CN 21 38461326 38461326 single base substitution G A intron_variant COCA-CN 21 38461326 38461326 single base substitution G A upstream_gene_variant COCA-CN 21 38462716 38462716 single base substitution A G intron_variant COCA-CN 21 38462716 38462716 single base substitution A G upstream_gene_variant COCA-CN 21 38462733 38462733 single base substitution A T intron_variant COCA-CN 21 38462733 38462733 single base substitution A T upstream_gene_variant COCA-CN 21 38463853 38463853 single base substitution G T exon_variant COCA-CN 21 38463853 38463853 single base substitution G T intron_variant COCA-CN 21 38466203 38466203 single base substitution G T downstream_gene_variant COCA-CN 21 38466203 38466203 single base substitution G T intron_variant COCA-CN 21 38481663 38481663 single base substitution T A intron_variant COCA-CN 21 38481671 38481671 single base substitution C T intron_variant COCA-CN 21 38495269 38495269 single base substitution G A intron_variant COCA-CN 21 38496883 38496883 single base substitution A G intron_variant COCA-CN 21 38497010 38497010 single base substitution G A exon_variant COCA-CN 21 38497010 38497010 single base substitution G A missense_variant E383K 1147G>A COCA-CN 21 38497010 38497010 single base substitution G A missense_variant E401K 1201G>A COCA-CN 21 38497010 38497010 single base substitution G A missense_variant E91K 271G>A COCA-CN 21 38516549 38516549 single base substitution A T intron_variant COCA-CN 21 38516549 38516549 single base substitution A T upstream_gene_variant COCA-CN 21 38523266 38523266 single base substitution C A intron_variant COCA-CN 21 38523266 38523266 single base substitution C A upstream_gene_variant COCA-CN 21 38528866 38528866 single base substitution A G downstream_gene_variant COCA-CN 21 38528866 38528866 single base substitution A G intron_variant COCA-CN 21 38528866 38528866 single base substitution A G upstream_gene_variant COCA-CN 21 38529186 38529186 single base substitution A C downstream_gene_variant COCA-CN 21 38529186 38529186 single base substitution A C exon_variant COCA-CN 21 38529186 38529186 single base substitution A C missense_variant L127F 381A>C COCA-CN 21 38529186 38529186 single base substitution A C missense_variant L972F 2916A>C COCA-CN 21 38529186 38529186 single base substitution A C missense_variant L990F 2970A>C COCA-CN 21 38529186 38529186 single base substitution A C upstream_gene_variant COCA-CN 21 38538414 38538414 single base substitution C A downstream_gene_variant COCA-CN 21 38538414 38538414 single base substitution C A exon_variant COCA-CN 21 38538414 38538414 single base substitution C A missense_variant L1300I 3898C>A COCA-CN 21 38538704 38538704 single base substitution T C downstream_gene_variant COCA-CN 21 38538704 38538704 single base substitution T C exon_variant COCA-CN 21 38538704 38538704 single base substitution T C synonymous_variant A1396A 4188T>C COCA-CN 21 38538788 38538788 single base substitution T C downstream_gene_variant COCA-CN 21 38538788 38538788 single base substitution T C exon_variant COCA-CN 21 38538788 38538788 single base substitution T C synonymous_variant A1424A 4272T>C COCA-CN 21 38539838 38539838 single base substitution T A downstream_gene_variant COCA-CN 21 38539838 38539838 single base substitution T A intron_variant COCA-CN 21 38564496 38564496 single base substitution A G exon_variant COCA-CN 21 38564496 38564496 single base substitution A G intron_variant COCA-CN 21 38564496 38564496 single base substitution A G synonymous_variant S1733S 5199A>G COCA-CN 21 38564496 38564496 single base substitution A G upstream_gene_variant COCA-CN 21 38570334 38570334 single base substitution T C downstream_gene_variant COCA-CN 21 38570334 38570334 single base substitution T C splice_region_variant EOPC-DE 21 38476005 38476005 single base substitution A C downstream_gene_variant EOPC-DE 21 38476005 38476005 single base substitution A C intron_variant EOPC-DE 21 38476005 38476005 single base substitution A C upstream_gene_variant EOPC-DE 21 38478000 38478000 single base substitution T G intron_variant EOPC-DE 21 38478000 38478000 single base substitution T G upstream_gene_variant EOPC-DE 21 38544962 38544962 single base substitution A G exon_variant EOPC-DE 21 38544962 38544962 single base substitution A G synonymous_variant E1511E 4533A>G EOPC-DE 21 38566803 38566803 single base substitution T A exon_variant EOPC-DE 21 38566803 38566803 single base substitution T A intron_variant ESAD-UK 21 38443861 38443861 single base substitution C T upstream_gene_variant ESAD-UK 21 38445539 38445539 single base substitution C T exon_variant ESAD-UK 21 38445539 38445539 single base substitution C T upstream_gene_variant ESAD-UK 21 38445706 38445706 single base substitution C T 5_prime_UTR_variant ESAD-UK 21 38445706 38445706 single base substitution C T exon_variant ESAD-UK 21 38445706 38445706 single base substitution C T intron_variant ESAD-UK 21 38446294 38446294 single base substitution G C intron_variant ESAD-UK 21 38449759 38449759 single base substitution G A intron_variant ESAD-UK 21 38449759 38449759 single base substitution G A upstream_gene_variant ESAD-UK 21 38451503 38451503 single base substitution G A intron_variant ESAD-UK 21 38451503 38451503 single base substitution G A upstream_gene_variant ESAD-UK 21 38455025 38455025 single base substitution T A 5_prime_UTR_variant ESAD-UK 21 38455025 38455025 single base substitution T A intron_variant ESAD-UK 21 38455025 38455025 single base substitution T A upstream_gene_variant ESAD-UK 21 38456396 38456396 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 21 38456396 38456396 single base substitution C T exon_variant ESAD-UK 21 38456396 38456396 single base substitution C T intron_variant ESAD-UK 21 38456396 38456396 single base substitution C T upstream_gene_variant ESAD-UK 21 38457348 38457348 single base substitution C G intron_variant ESAD-UK 21 38457348 38457348 single base substitution C G upstream_gene_variant ESAD-UK 21 38460303 38460303 single base substitution G A exon_variant ESAD-UK 21 38460303 38460303 single base substitution G A intron_variant ESAD-UK 21 38460303 38460303 single base substitution G A upstream_gene_variant ESAD-UK 21 38465103 38465103 single base substitution A T intron_variant ESAD-UK 21 38466083 38466083 single base substitution C T downstream_gene_variant ESAD-UK 21 38466083 38466083 single base substitution C T intron_variant ESAD-UK 21 38467537 38467537 single base substitution C T downstream_gene_variant ESAD-UK 21 38467537 38467537 single base substitution C T intron_variant ESAD-UK 21 38471831 38471831 single base substitution G A downstream_gene_variant ESAD-UK 21 38471831 38471831 single base substitution G A intron_variant ESAD-UK 21 38471832 38471832 single base substitution G T downstream_gene_variant ESAD-UK 21 38471832 38471832 single base substitution G T intron_variant ESAD-UK 21 38472849 38472849 single base substitution A G downstream_gene_variant ESAD-UK 21 38472849 38472849 single base substitution A G intron_variant ESAD-UK 21 38479246 38479246 single base substitution T G intron_variant ESAD-UK 21 38479246 38479246 single base substitution T G upstream_gene_variant ESAD-UK 21 38480290 38480290 single base substitution C A exon_variant ESAD-UK 21 38480290 38480290 single base substitution C A intron_variant ESAD-UK 21 38486058 38486058 single base substitution G T intron_variant ESAD-UK 21 38494233 38494233 single base substitution A C exon_variant ESAD-UK 21 38494233 38494233 single base substitution A C intron_variant ESAD-UK 21 38494233 38494233 single base substitution A C synonymous_variant L29L 87A>C ESAD-UK 21 38494233 38494233 single base substitution A C synonymous_variant L321L 963A>C ESAD-UK 21 38494233 38494233 single base substitution A C synonymous_variant L339L 1017A>C ESAD-UK 21 38494497 38494497 single base substitution T A intron_variant ESAD-UK 21 38495561 38495561 single base substitution T A intron_variant ESAD-UK 21 38496696 38496696 single base substitution C T intron_variant ESAD-UK 21 38498760 38498760 single base substitution T G intron_variant ESAD-UK 21 38504031 38504031 single base substitution G A intron_variant ESAD-UK 21 38504832 38504832 single base substitution C T intron_variant ESAD-UK 21 38506188 38506188 single base substitution T C intron_variant ESAD-UK 21 38508256 38508256 single base substitution C T downstream_gene_variant ESAD-UK 21 38508256 38508256 single base substitution C T intron_variant ESAD-UK 21 38510281 38510281 single base substitution G C downstream_gene_variant ESAD-UK 21 38510281 38510281 single base substitution G C intron_variant ESAD-UK 21 38516543 38516543 deletion of <=200bp A - intron_variant ESAD-UK 21 38516543 38516543 deletion of <=200bp A - upstream_gene_variant ESAD-UK 21 38516903 38516903 single base substitution G A exon_variant ESAD-UK 21 38516903 38516903 single base substitution G A synonymous_variant T14T 42G>A ESAD-UK 21 38516903 38516903 single base substitution G A synonymous_variant T307T 921G>A ESAD-UK 21 38516903 38516903 single base substitution G A synonymous_variant T599T 1797G>A ESAD-UK 21 38516903 38516903 single base substitution G A synonymous_variant T617T 1851G>A ESAD-UK 21 38518542 38518542 single base substitution C A intron_variant ESAD-UK 21 38521598 38521598 single base substitution T G intron_variant ESAD-UK 21 38521598 38521598 single base substitution T G upstream_gene_variant ESAD-UK 21 38521638 38521638 single base substitution T A intron_variant ESAD-UK 21 38521638 38521638 single base substitution T A upstream_gene_variant ESAD-UK 21 38527065 38527065 single base substitution C T downstream_gene_variant ESAD-UK 21 38527065 38527065 single base substitution C T intron_variant ESAD-UK 21 38527065 38527065 single base substitution C T upstream_gene_variant ESAD-UK 21 38531891 38531891 single base substitution T G exon_variant ESAD-UK 21 38531891 38531891 single base substitution T G intron_variant ESAD-UK 21 38533816 38533816 single base substitution C T intron_variant ESAD-UK 21 38535142 38535142 single base substitution A C intron_variant ESAD-UK 21 38535738 38535738 single base substitution C T intron_variant ESAD-UK 21 38541818 38541818 single base substitution C T downstream_gene_variant ESAD-UK 21 38541818 38541818 single base substitution C T intron_variant ESAD-UK 21 38542100 38542100 single base substitution A C downstream_gene_variant ESAD-UK 21 38542100 38542100 single base substitution A C intron_variant ESAD-UK 21 38543839 38543839 single base substitution A G intron_variant ESAD-UK 21 38547283 38547283 single base substitution C A intron_variant ESAD-UK 21 38551272 38551272 deletion of <=200bp A - intron_variant ESAD-UK 21 38551656 38551656 single base substitution A G intron_variant ESAD-UK 21 38552837 38552837 single base substitution T C intron_variant ESAD-UK 21 38556261 38556261 single base substitution G A intron_variant ESAD-UK 21 38559534 38559534 single base substitution C G downstream_gene_variant ESAD-UK 21 38559534 38559534 single base substitution C G intron_variant ESAD-UK 21 38559534 38559534 single base substitution C G upstream_gene_variant ESAD-UK 21 38559608 38559608 single base substitution T A downstream_gene_variant ESAD-UK 21 38559608 38559608 single base substitution T A intron_variant ESAD-UK 21 38559608 38559608 single base substitution T A upstream_gene_variant ESAD-UK 21 38561745 38561745 single base substitution C T downstream_gene_variant ESAD-UK 21 38561745 38561745 single base substitution C T intron_variant ESAD-UK 21 38561745 38561745 single base substitution C T upstream_gene_variant ESAD-UK 21 38563177 38563177 single base substitution C T downstream_gene_variant ESAD-UK 21 38563177 38563177 single base substitution C T intron_variant ESAD-UK 21 38563177 38563177 single base substitution C T upstream_gene_variant ESAD-UK 21 38563394 38563394 single base substitution A G intron_variant ESAD-UK 21 38563394 38563394 single base substitution A G upstream_gene_variant ESAD-UK 21 38563782 38563782 single base substitution G A intron_variant ESAD-UK 21 38563782 38563782 single base substitution G A upstream_gene_variant ESAD-UK 21 38565348 38565348 single base substitution G A intron_variant ESAD-UK 21 38565348 38565348 single base substitution G A upstream_gene_variant ESAD-UK 21 38568652 38568652 single base substitution C T intron_variant ESAD-UK 21 38571730 38571739 deletion of <=200bp AGTCCCAGGC - downstream_gene_variant ESAD-UK 21 38571730 38571739 deletion of <=200bp AGTCCCAGGC - intron_variant ESAD-UK 21 38573588 38573588 single base substitution A G downstream_gene_variant ESAD-UK 21 38573588 38573588 single base substitution A G intron_variant ESAD-UK 21 38573939 38573939 single base substitution C G 3_prime_UTR_variant ESAD-UK 21 38573939 38573939 single base substitution C G downstream_gene_variant ESAD-UK 21 38573939 38573939 single base substitution C G exon_variant ESAD-UK 21 38575371 38575371 single base substitution C G 3_prime_UTR_variant ESAD-UK 21 38575371 38575371 single base substitution C G downstream_gene_variant ESAD-UK 21 38575371 38575371 single base substitution C G exon_variant ESAD-UK 21 38579103 38579103 single base substitution C T downstream_gene_variant ESCA-CN 21 38460488 38460488 single base substitution T A exon_variant ESCA-CN 21 38460488 38460488 single base substitution T A intron_variant ESCA-CN 21 38460488 38460488 single base substitution T A splice_region_variant ESCA-CN 21 38460488 38460488 single base substitution T A upstream_gene_variant ESCA-CN 21 38501311 38501311 single base substitution C T exon_variant ESCA-CN 21 38501311 38501311 single base substitution C T missense_variant P126S 376C>T ESCA-CN 21 38501311 38501311 single base substitution C T missense_variant P418S 1252C>T ESCA-CN 21 38501311 38501311 single base substitution C T missense_variant P436S 1306C>T ESCA-CN 21 38529340 38529340 single base substitution G A downstream_gene_variant ESCA-CN 21 38529340 38529340 single base substitution G A intron_variant ESCA-CN 21 38529340 38529340 single base substitution G A upstream_gene_variant ESCA-CN 21 38531981 38531981 single base substitution C A exon_variant ESCA-CN 21 38531981 38531981 single base substitution C A intron_variant ESCA-CN 21 38538401 38538401 single base substitution C A downstream_gene_variant ESCA-CN 21 38538401 38538401 single base substitution C A exon_variant ESCA-CN 21 38538401 38538401 single base substitution C A synonymous_variant S1295S 3885C>A KIRC-US 21 38444809 38444809 single base substitution C A upstream_gene_variant KIRC-US 21 38539860 38539860 single base substitution T A downstream_gene_variant KIRC-US 21 38539860 38539860 single base substitution T A exon_variant KIRC-US 21 38539860 38539860 single base substitution T A missense_variant S1469T 4405T>A KIRP-US 21 38536463 38536463 single base substitution G A exon_variant KIRP-US 21 38536463 38536463 single base substitution G A missense_variant R1076H 3227G>A KIRP-US 21 38536463 38536463 single base substitution G A missense_variant R1094H 3281G>A KIRP-US 21 38536463 38536463 single base substitution G A missense_variant R249H 746G>A KIRP-US 21 38568034 38568034 insertion of <=200bp - T exon_variant KIRP-US 21 38568034 38568034 insertion of <=200bp - T frameshift_variant S1759F? KIRP-US 21 38568034 38568034 insertion of <=200bp - T frameshift_variant S50F? LAML-KR 21 38463452 38463452 single base substitution T C intron_variant LAML-KR 21 38463452 38463452 single base substitution T C upstream_gene_variant LAML-KR 21 38466203 38466203 single base substitution G T downstream_gene_variant LAML-KR 21 38466203 38466203 single base substitution G T intron_variant LAML-KR 21 38469069 38469069 single base substitution G C downstream_gene_variant LAML-KR 21 38469069 38469069 single base substitution G C exon_variant LAML-KR 21 38469069 38469069 single base substitution G C intron_variant LAML-KR 21 38496842 38496842 single base substitution C T intron_variant LAML-KR 21 38497152 38497152 single base substitution T C intron_variant LAML-KR 21 38520017 38520017 single base substitution A C intron_variant LAML-KR 21 38563725 38563725 single base substitution G A splice_region_variant LAML-KR 21 38563725 38563725 single base substitution G A upstream_gene_variant LGG-US 21 38536430 38536430 single base substitution T G exon_variant LGG-US 21 38536430 38536430 single base substitution T G missense_variant L1065R 3194T>G LGG-US 21 38536430 38536430 single base substitution T G missense_variant L1083R 3248T>G LGG-US 21 38536430 38536430 single base substitution T G missense_variant L238R 713T>G LGG-US 21 38568034 38568034 insertion of <=200bp - T exon_variant LGG-US 21 38568034 38568034 insertion of <=200bp - T frameshift_variant S1759F? LGG-US 21 38568034 38568034 insertion of <=200bp - T frameshift_variant S50F? LICA-CN 21 38510935 38510935 single base substitution A T downstream_gene_variant LICA-CN 21 38510935 38510935 single base substitution A T missense_variant Q217L 650A>T LICA-CN 21 38510935 38510935 single base substitution A T missense_variant Q509L 1526A>T LICA-CN 21 38510935 38510935 single base substitution A T missense_variant Q527L 1580A>T LICA-CN 21 38510935 38510935 single base substitution A T splice_region_variant LICA-CN 21 38525396 38525396 single base substitution A T downstream_gene_variant LICA-CN 21 38525396 38525396 single base substitution A T exon_variant LICA-CN 21 38525396 38525396 single base substitution A T synonymous_variant T216T 648A>T LICA-CN 21 38525396 38525396 single base substitution A T synonymous_variant T543T 1629A>T LICA-CN 21 38525396 38525396 single base substitution A T synonymous_variant T835T 2505A>T LICA-CN 21 38525396 38525396 single base substitution A T synonymous_variant T853T 2559A>T LICA-CN 21 38525396 38525396 single base substitution A T upstream_gene_variant LICA-CN 21 38529022 38529022 single base substitution A G downstream_gene_variant LICA-CN 21 38529022 38529022 single base substitution A G exon_variant LICA-CN 21 38529022 38529022 single base substitution A G missense_variant I73V 217A>G LICA-CN 21 38529022 38529022 single base substitution A G missense_variant I918V 2752A>G LICA-CN 21 38529022 38529022 single base substitution A G missense_variant I936V 2806A>G LICA-CN 21 38529022 38529022 single base substitution A G upstream_gene_variant LICA-CN 21 38559407 38559407 single base substitution G A downstream_gene_variant LICA-CN 21 38559407 38559407 single base substitution G A exon_variant LICA-CN 21 38559407 38559407 single base substitution G A synonymous_variant E1628E 4884G>A LICA-CN 21 38559407 38559407 single base substitution G A upstream_gene_variant LICA-FR 21 38460132 38460132 single base substitution G A intron_variant LICA-FR 21 38460132 38460132 single base substitution G A splice_acceptor_variant LICA-FR 21 38460132 38460132 single base substitution G A upstream_gene_variant LICA-FR 21 38479335 38479335 single base substitution G T intron_variant LICA-FR 21 38479335 38479335 single base substitution G T upstream_gene_variant LICA-FR 21 38481936 38481936 single base substitution C A intron_variant LICA-FR 21 38482106 38482106 single base substitution C A intron_variant LICA-FR 21 38482119 38482119 single base substitution G T intron_variant LICA-FR 21 38512963 38512963 insertion of <=200bp - A exon_variant LICA-FR 21 38512963 38512963 insertion of <=200bp - A frameshift_variant K278K? LICA-FR 21 38512963 38512963 insertion of <=200bp - A frameshift_variant K570K? LICA-FR 21 38512963 38512963 insertion of <=200bp - A frameshift_variant K588K? LICA-FR 21 38512963 38512963 insertion of <=200bp - A upstream_gene_variant LICA-FR 21 38532657 38532657 single base substitution G T intron_variant LICA-FR 21 38536415 38536415 single base substitution A C exon_variant LICA-FR 21 38536415 38536415 single base substitution A C missense_variant E1060A 3179A>C LICA-FR 21 38536415 38536415 single base substitution A C missense_variant E1078A 3233A>C LICA-FR 21 38536415 38536415 single base substitution A C missense_variant E233A 698A>C LICA-FR 21 38537988 38537988 single base substitution G A downstream_gene_variant LICA-FR 21 38537988 38537988 single base substitution G A exon_variant LICA-FR 21 38537988 38537988 single base substitution G A missense_variant G1140R 3418G>A LICA-FR 21 38537988 38537988 single base substitution G A missense_variant G1158R 3472G>A LICA-FR 21 38562659 38562659 single base substitution A G downstream_gene_variant LICA-FR 21 38562659 38562659 single base substitution A G intron_variant LICA-FR 21 38562659 38562659 single base substitution A G upstream_gene_variant LICA-FR 21 38570056 38570056 insertion of <=200bp - AAA intron_variant LIHC-US 21 38461097 38461097 single base substitution A T intron_variant LIHC-US 21 38461097 38461097 single base substitution A T splice_acceptor_variant LIHC-US 21 38461097 38461097 single base substitution A T upstream_gene_variant LIHC-US 21 38532006 38532006 single base substitution C T exon_variant LIHC-US 21 38532006 38532006 single base substitution C T missense_variant R1000C 2998C>T LIHC-US 21 38532006 38532006 single base substitution C T missense_variant R155C 463C>T LIHC-US 21 38532006 38532006 single base substitution C T missense_variant R982C 2944C>T LIHC-US 21 38538717 38538717 single base substitution G A downstream_gene_variant LIHC-US 21 38538717 38538717 single base substitution G A exon_variant LIHC-US 21 38538717 38538717 single base substitution G A missense_variant A1401T 4201G>A LIHC-US 21 38538901 38538901 single base substitution A G downstream_gene_variant LIHC-US 21 38538901 38538901 single base substitution A G exon_variant LIHC-US 21 38538901 38538901 single base substitution A G missense_variant Q1462R 4385A>G LIHC-US 21 38555158 38555158 single base substitution A T exon_variant LIHC-US 21 38555158 38555158 single base substitution A T missense_variant Q1567L 4700A>T LIHC-US 21 38572587 38572587 single base substitution G A downstream_gene_variant LIHC-US 21 38572587 38572587 single base substitution G A exon_variant LIHC-US 21 38572587 38572587 single base substitution G A missense_variant V1969M 5905G>A LIHC-US 21 38572587 38572587 single base substitution G A missense_variant V260M 778G>A LINC-JP 21 38441667 38441667 single base substitution G T upstream_gene_variant LINC-JP 21 38446631 38446631 single base substitution G A intron_variant LINC-JP 21 38455372 38455372 single base substitution C T 5_prime_UTR_variant LINC-JP 21 38455372 38455372 single base substitution C T intron_variant LINC-JP 21 38455372 38455372 single base substitution C T upstream_gene_variant LINC-JP 21 38470271 38470271 single base substitution A G downstream_gene_variant LINC-JP 21 38470271 38470271 single base substitution A G intron_variant LINC-JP 21 38470271 38470271 single base substitution A G stop_retained_variant *301* 902A>G LINC-JP 21 38470368 38470368 single base substitution A G 3_prime_UTR_variant LINC-JP 21 38470368 38470368 single base substitution A G downstream_gene_variant LINC-JP 21 38470368 38470368 single base substitution A G intron_variant LINC-JP 21 38486234 38486234 single base substitution G T intron_variant LINC-JP 21 38495283 38495283 single base substitution G A missense_variant G337D 1010G>A LINC-JP 21 38495283 38495283 single base substitution G A missense_variant G355D 1064G>A LINC-JP 21 38495283 38495283 single base substitution G A missense_variant G45D 134G>A LINC-JP 21 38495283 38495283 single base substitution G A splice_region_variant LINC-JP 21 38499063 38499063 single base substitution G A intron_variant LINC-JP 21 38501378 38501378 single base substitution T C intron_variant LINC-JP 21 38504690 38504690 single base substitution G T intron_variant LINC-JP 21 38507461 38507461 single base substitution A G intron_variant LINC-JP 21 38507757 38507757 single base substitution C T downstream_gene_variant LINC-JP 21 38507757 38507757 single base substitution C T exon_variant LINC-JP 21 38507757 38507757 single base substitution C T synonymous_variant R197R 591C>T LINC-JP 21 38507757 38507757 single base substitution C T synonymous_variant R489R 1467C>T LINC-JP 21 38507757 38507757 single base substitution C T synonymous_variant R507R 1521C>T LINC-JP 21 38511872 38511872 single base substitution C A downstream_gene_variant LINC-JP 21 38511872 38511872 single base substitution C A intron_variant LINC-JP 21 38511872 38511872 single base substitution C A upstream_gene_variant LINC-JP 21 38513130 38513130 single base substitution A G intron_variant LINC-JP 21 38513130 38513130 single base substitution A G upstream_gene_variant LINC-JP 21 38513150 38513150 single base substitution C G intron_variant LINC-JP 21 38513150 38513150 single base substitution C G upstream_gene_variant LINC-JP 21 38521418 38521418 single base substitution G A intron_variant LINC-JP 21 38521418 38521418 single base substitution G A upstream_gene_variant LINC-JP 21 38524750 38524750 single base substitution G T downstream_gene_variant LINC-JP 21 38524750 38524750 single base substitution G T intron_variant LINC-JP 21 38524750 38524750 single base substitution G T upstream_gene_variant LINC-JP 21 38525426 38525434 deletion of <=200bp AAATTTTCT - downstream_gene_variant LINC-JP 21 38525426 38525434 deletion of <=200bp AAATTTTCT - exon_variant LINC-JP 21 38525426 38525434 deletion of <=200bp AAATTTTCT - inframe_deletion NFL1 LINC-JP 21 38525426 38525434 deletion of <=200bp AAATTTTCT - inframe_deletion RNFL226R LINC-JP 21 38525426 38525434 deletion of <=200bp AAATTTTCT - inframe_deletion RNFL553R LINC-JP 21 38525426 38525434 deletion of <=200bp AAATTTTCT - inframe_deletion RNFL845R LINC-JP 21 38525426 38525434 deletion of <=200bp AAATTTTCT - inframe_deletion RNFL863R LINC-JP 21 38525426 38525434 deletion of <=200bp AAATTTTCT - upstream_gene_variant LINC-JP 21 38532013 38532013 single base substitution C A exon_variant LINC-JP 21 38532013 38532013 single base substitution C A missense_variant T1002N 3005C>A LINC-JP 21 38532013 38532013 single base substitution C A missense_variant T157N 470C>A LINC-JP 21 38532013 38532013 single base substitution C A missense_variant T984N 2951C>A LINC-JP 21 38532036 38532036 single base substitution G T exon_variant LINC-JP 21 38532036 38532036 single base substitution G T missense_variant G1010C 3028G>T LINC-JP 21 38532036 38532036 single base substitution G T missense_variant G165C 493G>T LINC-JP 21 38532036 38532036 single base substitution G T missense_variant G992C 2974G>T LINC-JP 21 38532790 38532790 single base substitution T C intron_variant LINC-JP 21 38533123 38533123 single base substitution A G exon_variant LINC-JP 21 38533123 38533123 single base substitution A G missense_variant K1002R 3005A>G LINC-JP 21 38533123 38533123 single base substitution A G missense_variant K1020R 3059A>G LINC-JP 21 38533123 38533123 single base substitution A G missense_variant K175R 524A>G LINC-JP 21 38538221 38538221 single base substitution G T downstream_gene_variant LINC-JP 21 38538221 38538221 single base substitution G T exon_variant LINC-JP 21 38538221 38538221 single base substitution G T synonymous_variant V1235V 3705G>T LINC-JP 21 38540067 38540067 single base substitution A G downstream_gene_variant LINC-JP 21 38540067 38540067 single base substitution A G intron_variant LINC-JP 21 38545622 38545628 deletion of <=200bp CATCTTA - intron_variant LINC-JP 21 38559091 38559091 single base substitution A C downstream_gene_variant LINC-JP 21 38559091 38559091 single base substitution A C intron_variant LINC-JP 21 38559091 38559091 single base substitution A C upstream_gene_variant LINC-JP 21 38560797 38560797 single base substitution T G downstream_gene_variant LINC-JP 21 38560797 38560797 single base substitution T G missense_variant V1642G 4925T>G LINC-JP 21 38560797 38560797 single base substitution T G splice_region_variant LINC-JP 21 38560797 38560797 single base substitution T G upstream_gene_variant LINC-JP 21 38564531 38564531 deletion of <=200bp T - intron_variant LINC-JP 21 38564531 38564531 deletion of <=200bp T - upstream_gene_variant LINC-JP 21 38565679 38565679 single base substitution T A intron_variant LINC-JP 21 38565679 38565679 single base substitution T A upstream_gene_variant LINC-JP 21 38568233 38568233 single base substitution G A exon_variant LINC-JP 21 38568233 38568233 single base substitution G A synonymous_variant K116K 348G>A LINC-JP 21 38568233 38568233 single base substitution G A synonymous_variant K1825K 5475G>A LINC-JP 21 38575079 38575079 insertion of <=200bp - A 3_prime_UTR_variant LINC-JP 21 38575079 38575079 insertion of <=200bp - A downstream_gene_variant LINC-JP 21 38575079 38575079 insertion of <=200bp - A exon_variant LIRI-JP 21 38441081 38441081 single base substitution T C upstream_gene_variant LIRI-JP 21 38442049 38442049 single base substitution A C upstream_gene_variant LIRI-JP 21 38443124 38443124 single base substitution G T upstream_gene_variant LIRI-JP 21 38443674 38443674 single base substitution A T upstream_gene_variant LIRI-JP 21 38446298 38446298 single base substitution A G intron_variant LIRI-JP 21 38447927 38447927 single base substitution T C intron_variant LIRI-JP 21 38450366 38450366 single base substitution G T intron_variant LIRI-JP 21 38450366 38450366 single base substitution G T upstream_gene_variant LIRI-JP 21 38450401 38450401 single base substitution C G intron_variant LIRI-JP 21 38450401 38450401 single base substitution C G upstream_gene_variant LIRI-JP 21 38451111 38451111 single base substitution C T intron_variant LIRI-JP 21 38451111 38451111 single base substitution C T upstream_gene_variant LIRI-JP 21 38453546 38453546 single base substitution T C intron_variant LIRI-JP 21 38453546 38453546 single base substitution T C upstream_gene_variant LIRI-JP 21 38454687 38454687 single base substitution G C 5_prime_UTR_variant LIRI-JP 21 38454687 38454687 single base substitution G C intron_variant LIRI-JP 21 38454687 38454687 single base substitution G C upstream_gene_variant LIRI-JP 21 38457222 38457222 single base substitution A G intron_variant LIRI-JP 21 38457222 38457222 single base substitution A G upstream_gene_variant LIRI-JP 21 38457340 38457340 single base substitution C G intron_variant LIRI-JP 21 38457340 38457340 single base substitution C G upstream_gene_variant LIRI-JP 21 38459940 38459940 insertion of <=200bp - G intron_variant LIRI-JP 21 38459940 38459940 insertion of <=200bp - G upstream_gene_variant LIRI-JP 21 38462096 38462096 single base substitution G A intron_variant LIRI-JP 21 38462096 38462096 single base substitution G A upstream_gene_variant LIRI-JP 21 38462878 38462878 single base substitution A T intron_variant LIRI-JP 21 38462878 38462878 single base substitution A T upstream_gene_variant LIRI-JP 21 38465598 38465598 single base substitution G A intron_variant LIRI-JP 21 38468518 38468518 single base substitution T C downstream_gene_variant LIRI-JP 21 38468518 38468518 single base substitution T C intron_variant LIRI-JP 21 38468547 38468547 single base substitution A G downstream_gene_variant LIRI-JP 21 38468547 38468547 single base substitution A G intron_variant LIRI-JP 21 38469956 38469956 single base substitution G A downstream_gene_variant LIRI-JP 21 38469956 38469956 single base substitution G A intron_variant LIRI-JP 21 38470269 38470269 single base substitution A G downstream_gene_variant LIRI-JP 21 38470269 38470269 single base substitution A G intron_variant LIRI-JP 21 38470269 38470269 single base substitution A G synonymous_variant K300K 900A>G LIRI-JP 21 38472340 38472340 single base substitution A G downstream_gene_variant LIRI-JP 21 38472340 38472340 single base substitution A G intron_variant LIRI-JP 21 38472894 38472903 deletion of <=200bp AAGTTAGGCC - downstream_gene_variant LIRI-JP 21 38472894 38472903 deletion of <=200bp AAGTTAGGCC - intron_variant LIRI-JP 21 38474125 38474125 single base substitution A G downstream_gene_variant LIRI-JP 21 38474125 38474125 single base substitution A G intron_variant LIRI-JP 21 38475529 38475529 single base substitution A G downstream_gene_variant LIRI-JP 21 38475529 38475529 single base substitution A G intron_variant LIRI-JP 21 38475529 38475529 single base substitution A G upstream_gene_variant LIRI-JP 21 38476776 38476776 single base substitution G T intron_variant LIRI-JP 21 38476776 38476776 single base substitution G T upstream_gene_variant LIRI-JP 21 38477784 38477784 single base substitution C G intron_variant LIRI-JP 21 38477784 38477784 single base substitution C G upstream_gene_variant LIRI-JP 21 38478259 38478259 single base substitution A T intron_variant LIRI-JP 21 38478259 38478259 single base substitution A T upstream_gene_variant LIRI-JP 21 38478426 38478426 single base substitution A G intron_variant LIRI-JP 21 38478426 38478426 single base substitution A G upstream_gene_variant LIRI-JP 21 38479437 38479437 single base substitution T C intron_variant LIRI-JP 21 38479437 38479437 single base substitution T C upstream_gene_variant LIRI-JP 21 38483184 38483184 single base substitution G T intron_variant LIRI-JP 21 38487720 38487720 single base substitution A G intron_variant LIRI-JP 21 38488741 38488741 deletion of <=200bp T - intron_variant LIRI-JP 21 38491784 38491784 single base substitution T G intron_variant LIRI-JP 21 38492007 38492007 single base substitution C G intron_variant LIRI-JP 21 38494040 38494040 single base substitution A T intron_variant LIRI-JP 21 38498038 38498039 deletion of <=200bp TA - intron_variant LIRI-JP 21 38499449 38499449 single base substitution C G intron_variant LIRI-JP 21 38501797 38501797 single base substitution G A intron_variant LIRI-JP 21 38501804 38501804 single base substitution A G intron_variant LIRI-JP 21 38502538 38502538 single base substitution A G intron_variant LIRI-JP 21 38504365 38504365 single base substitution A T intron_variant LIRI-JP 21 38506738 38506738 single base substitution G A intron_variant LIRI-JP 21 38507938 38507938 single base substitution T A downstream_gene_variant LIRI-JP 21 38507938 38507938 single base substitution T A intron_variant LIRI-JP 21 38508311 38508311 single base substitution A G downstream_gene_variant LIRI-JP 21 38508311 38508311 single base substitution A G intron_variant LIRI-JP 21 38508650 38508650 single base substitution A G downstream_gene_variant LIRI-JP 21 38508650 38508650 single base substitution A G intron_variant LIRI-JP 21 38510343 38510343 single base substitution A G downstream_gene_variant LIRI-JP 21 38510343 38510343 single base substitution A G intron_variant LIRI-JP 21 38510415 38510415 single base substitution A G downstream_gene_variant LIRI-JP 21 38510415 38510415 single base substitution A G intron_variant LIRI-JP 21 38511621 38511621 single base substitution A G downstream_gene_variant LIRI-JP 21 38511621 38511621 single base substitution A G intron_variant LIRI-JP 21 38512684 38512684 single base substitution G A downstream_gene_variant LIRI-JP 21 38512684 38512684 single base substitution G A intron_variant LIRI-JP 21 38512684 38512684 single base substitution G A upstream_gene_variant LIRI-JP 21 38512963 38512963 deletion of <=200bp A - exon_variant LIRI-JP 21 38512963 38512963 deletion of <=200bp A - frameshift_variant K278 LIRI-JP 21 38512963 38512963 deletion of <=200bp A - frameshift_variant K570 LIRI-JP 21 38512963 38512963 deletion of <=200bp A - frameshift_variant K588 LIRI-JP 21 38512963 38512963 deletion of <=200bp A - upstream_gene_variant LIRI-JP 21 38516809 38516809 single base substitution A G intron_variant LIRI-JP 21 38516809 38516809 single base substitution A G upstream_gene_variant LIRI-JP 21 38517027 38517027 single base substitution G T intron_variant LIRI-JP 21 38517060 38517060 single base substitution C T intron_variant LIRI-JP 21 38517237 38517237 single base substitution G A intron_variant LIRI-JP 21 38519396 38519396 single base substitution G A intron_variant LIRI-JP 21 38520539 38520539 single base substitution G A intron_variant LIRI-JP 21 38520539 38520539 single base substitution G A upstream_gene_variant LIRI-JP 21 38521390 38521390 single base substitution G T intron_variant LIRI-JP 21 38521390 38521390 single base substitution G T upstream_gene_variant LIRI-JP 21 38521691 38521692 deletion of <=200bp TT - intron_variant LIRI-JP 21 38521691 38521692 deletion of <=200bp TT - upstream_gene_variant LIRI-JP 21 38523362 38523362 single base substitution A G intron_variant LIRI-JP 21 38523362 38523362 single base substitution A G upstream_gene_variant LIRI-JP 21 38528467 38528467 single base substitution A G downstream_gene_variant LIRI-JP 21 38528467 38528467 single base substitution A G intron_variant LIRI-JP 21 38528467 38528467 single base substitution A G upstream_gene_variant LIRI-JP 21 38528800 38528800 single base substitution C T downstream_gene_variant LIRI-JP 21 38528800 38528800 single base substitution C T intron_variant LIRI-JP 21 38528800 38528800 single base substitution C T upstream_gene_variant LIRI-JP 21 38529234 38529234 single base substitution A G downstream_gene_variant LIRI-JP 21 38529234 38529234 single base substitution A G intron_variant LIRI-JP 21 38529234 38529234 single base substitution A G upstream_gene_variant LIRI-JP 21 38530198 38530198 single base substitution A G downstream_gene_variant LIRI-JP 21 38530198 38530198 single base substitution A G intron_variant LIRI-JP 21 38530198 38530198 single base substitution A G upstream_gene_variant LIRI-JP 21 38531051 38531051 single base substitution A C intron_variant LIRI-JP 21 38531051 38531051 single base substitution A C upstream_gene_variant LIRI-JP 21 38533490 38533490 single base substitution C G intron_variant LIRI-JP 21 38533553 38533553 single base substitution T A intron_variant LIRI-JP 21 38533941 38533942 deletion of <=200bp GA - intron_variant LIRI-JP 21 38535018 38535018 single base substitution A G intron_variant LIRI-JP 21 38536866 38536866 single base substitution C T intron_variant LIRI-JP 21 38538867 38538867 single base substitution A T downstream_gene_variant LIRI-JP 21 38538867 38538867 single base substitution A T exon_variant LIRI-JP 21 38538867 38538867 single base substitution A T missense_variant S1451C 4351A>T LIRI-JP 21 38545215 38545215 single base substitution T G intron_variant LIRI-JP 21 38546782 38546782 single base substitution C T intron_variant LIRI-JP 21 38550981 38550981 single base substitution G A intron_variant LIRI-JP 21 38552990 38552990 single base substitution C T intron_variant LIRI-JP 21 38554050 38554050 deletion of <=200bp G - intron_variant LIRI-JP 21 38557719 38557720 deletion of <=200bp TG - intron_variant LIRI-JP 21 38559096 38559096 single base substitution A G downstream_gene_variant LIRI-JP 21 38559096 38559096 single base substitution A G intron_variant LIRI-JP 21 38559096 38559096 single base substitution A G upstream_gene_variant LIRI-JP 21 38559789 38559789 single base substitution A G downstream_gene_variant LIRI-JP 21 38559789 38559789 single base substitution A G intron_variant LIRI-JP 21 38559789 38559789 single base substitution A G upstream_gene_variant LIRI-JP 21 38560264 38560264 single base substitution T A downstream_gene_variant LIRI-JP 21 38560264 38560264 single base substitution T A intron_variant LIRI-JP 21 38560264 38560264 single base substitution T A upstream_gene_variant LIRI-JP 21 38560435 38560436 deletion of <=200bp AG - downstream_gene_variant LIRI-JP 21 38560435 38560436 deletion of <=200bp AG - intron_variant LIRI-JP 21 38560435 38560436 deletion of <=200bp AG - upstream_gene_variant LIRI-JP 21 38561418 38561419 deletion of <=200bp AA - downstream_gene_variant LIRI-JP 21 38561418 38561419 deletion of <=200bp AA - intron_variant LIRI-JP 21 38561418 38561419 deletion of <=200bp AA - upstream_gene_variant LIRI-JP 21 38562247 38562248 deletion of <=200bp TC - downstream_gene_variant LIRI-JP 21 38562247 38562248 deletion of <=200bp TC - intron_variant LIRI-JP 21 38562247 38562248 deletion of <=200bp TC - upstream_gene_variant LIRI-JP 21 38562272 38562273 deletion of <=200bp GA - downstream_gene_variant LIRI-JP 21 38562272 38562273 deletion of <=200bp GA - intron_variant LIRI-JP 21 38562272 38562273 deletion of <=200bp GA - upstream_gene_variant LIRI-JP 21 38562294 38562295 deletion of <=200bp AC - downstream_gene_variant LIRI-JP 21 38562294 38562295 deletion of <=200bp AC - intron_variant LIRI-JP 21 38562294 38562295 deletion of <=200bp AC - upstream_gene_variant LIRI-JP 21 38567963 38567963 single base substitution G C intron_variant LIRI-JP 21 38568873 38568873 single base substitution A G intron_variant LIRI-JP 21 38569032 38569032 single base substitution A G intron_variant LIRI-JP 21 38569368 38569368 single base substitution A G intron_variant LIRI-JP 21 38570229 38570229 deletion of <=200bp C - exon_variant LIRI-JP 21 38570229 38570229 deletion of <=200bp C - frameshift_variant T1918 LIRI-JP 21 38570229 38570229 deletion of <=200bp C - frameshift_variant T209 LIRI-JP 21 38570369 38570369 single base substitution A G downstream_gene_variant LIRI-JP 21 38570369 38570369 single base substitution A G intron_variant LIRI-JP 21 38575672 38575672 single base substitution A T downstream_gene_variant LIRI-JP 21 38576029 38576029 single base substitution G C downstream_gene_variant LIRI-JP 21 38577329 38577329 single base substitution A G downstream_gene_variant LIRI-JP 21 38577735 38577735 single base substitution T G downstream_gene_variant LUSC-KR 21 38447670 38447670 single base substitution T A intron_variant LUSC-KR 21 38451301 38451301 single base substitution C G intron_variant LUSC-KR 21 38451301 38451301 single base substitution C G upstream_gene_variant LUSC-KR 21 38480443 38480443 single base substitution C T exon_variant LUSC-KR 21 38480443 38480443 single base substitution C T intron_variant LUSC-KR 21 38484723 38484723 single base substitution A G intron_variant LUSC-KR 21 38498063 38498063 single base substitution C T intron_variant LUSC-KR 21 38506615 38506615 single base substitution G C intron_variant LUSC-KR 21 38516156 38516156 single base substitution G A intron_variant LUSC-KR 21 38516156 38516156 single base substitution G A upstream_gene_variant LUSC-KR 21 38521258 38521258 single base substitution G T intron_variant LUSC-KR 21 38521258 38521258 single base substitution G T upstream_gene_variant LUSC-KR 21 38524705 38524705 single base substitution G T downstream_gene_variant LUSC-KR 21 38524705 38524705 single base substitution G T intron_variant LUSC-KR 21 38524705 38524705 single base substitution G T upstream_gene_variant LUSC-KR 21 38533887 38533887 single base substitution G T intron_variant LUSC-KR 21 38538896 38538896 single base substitution C A downstream_gene_variant LUSC-KR 21 38538896 38538896 single base substitution C A exon_variant LUSC-KR 21 38538896 38538896 single base substitution C A missense_variant H1460Q 4380C>A LUSC-KR 21 38550349 38550349 single base substitution A C intron_variant LUSC-KR 21 38554518 38554518 single base substitution C G intron_variant LUSC-KR 21 38560751 38560751 single base substitution G C downstream_gene_variant LUSC-KR 21 38560751 38560751 single base substitution G C intron_variant LUSC-KR 21 38560751 38560751 single base substitution G C upstream_gene_variant LUSC-KR 21 38565943 38565943 single base substitution C G intron_variant LUSC-KR 21 38565943 38565943 single base substitution C G upstream_gene_variant LUSC-KR 21 38566212 38566212 single base substitution G C intron_variant LUSC-KR 21 38566212 38566212 single base substitution G C upstream_gene_variant LUSC-KR 21 38569461 38569461 single base substitution G A intron_variant LUSC-KR 21 38573803 38573803 single base substitution G A downstream_gene_variant LUSC-KR 21 38573803 38573803 single base substitution G A exon_variant LUSC-KR 21 38573803 38573803 single base substitution G A synonymous_variant L2002L 6006G>A LUSC-KR 21 38573803 38573803 single base substitution G A synonymous_variant L293L 879G>A LUSC-KR 21 38574674 38574674 single base substitution C G 3_prime_UTR_variant LUSC-KR 21 38574674 38574674 single base substitution C G downstream_gene_variant LUSC-KR 21 38574674 38574674 single base substitution C G exon_variant LUSC-KR 21 38574675 38574675 single base substitution T C 3_prime_UTR_variant LUSC-KR 21 38574675 38574675 single base substitution T C downstream_gene_variant LUSC-KR 21 38574675 38574675 single base substitution T C exon_variant LUSC-US 21 38459592 38459592 single base substitution C A exon_variant LUSC-US 21 38459592 38459592 single base substitution C A intron_variant LUSC-US 21 38459592 38459592 single base substitution C A missense_variant A12E 35C>A LUSC-US 21 38459592 38459592 single base substitution C A upstream_gene_variant LUSC-US 21 38459620 38459620 single base substitution T A exon_variant LUSC-US 21 38459620 38459620 single base substitution T A intron_variant LUSC-US 21 38459620 38459620 single base substitution T A synonymous_variant P21P 63T>A LUSC-US 21 38459620 38459620 single base substitution T A upstream_gene_variant LUSC-US 21 38460573 38460573 single base substitution A G exon_variant LUSC-US 21 38460573 38460573 single base substitution A G intron_variant LUSC-US 21 38460573 38460573 single base substitution A G missense_variant I89V 265A>G LUSC-US 21 38460573 38460573 single base substitution A G upstream_gene_variant LUSC-US 21 38512875 38512875 single base substitution C T exon_variant LUSC-US 21 38512875 38512875 single base substitution C T synonymous_variant A248A 744C>T LUSC-US 21 38512875 38512875 single base substitution C T synonymous_variant A540A 1620C>T LUSC-US 21 38512875 38512875 single base substitution C T synonymous_variant A558A 1674C>T LUSC-US 21 38512875 38512875 single base substitution C T upstream_gene_variant LUSC-US 21 38519833 38519833 deletion of <=200bp C - exon_variant LUSC-US 21 38519833 38519833 deletion of <=200bp C - frameshift_variant A339 LUSC-US 21 38519833 38519833 deletion of <=200bp C - frameshift_variant A46 LUSC-US 21 38519833 38519833 deletion of <=200bp C - frameshift_variant A631 LUSC-US 21 38519833 38519833 deletion of <=200bp C - frameshift_variant A649 LUSC-US 21 38568325 38568325 single base substitution C G exon_variant LUSC-US 21 38568325 38568325 single base substitution C G missense_variant P147R 440C>G LUSC-US 21 38568325 38568325 single base substitution C G missense_variant P1856R 5567C>G LUSC-US 21 38573770 38573770 single base substitution C T downstream_gene_variant LUSC-US 21 38573770 38573770 single base substitution C T exon_variant LUSC-US 21 38573770 38573770 single base substitution C T synonymous_variant S1991S 5973C>T LUSC-US 21 38573770 38573770 single base substitution C T synonymous_variant S282S 846C>T MALY-DE 21 38444339 38444339 single base substitution A G upstream_gene_variant MALY-DE 21 38445669 38445669 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 21 38445669 38445669 single base substitution G A exon_variant MALY-DE 21 38445669 38445669 single base substitution G A intron_variant MALY-DE 21 38454359 38454359 single base substitution G T 5_prime_UTR_variant MALY-DE 21 38454359 38454359 single base substitution G T intron_variant MALY-DE 21 38454359 38454359 single base substitution G T upstream_gene_variant MALY-DE 21 38462709 38462709 single base substitution G A intron_variant MALY-DE 21 38462709 38462709 single base substitution G A upstream_gene_variant MALY-DE 21 38463671 38463671 single base substitution A G exon_variant MALY-DE 21 38463671 38463671 single base substitution A G intron_variant MALY-DE 21 38463671 38463671 single base substitution A G missense_variant I169V 505A>G MALY-DE 21 38463671 38463671 single base substitution A G missense_variant I187V 559A>G MALY-DE 21 38463671 38463671 single base substitution A G upstream_gene_variant MALY-DE 21 38464642 38464642 single base substitution C T intron_variant MALY-DE 21 38466093 38466093 single base substitution C T downstream_gene_variant MALY-DE 21 38466093 38466093 single base substitution C T intron_variant MALY-DE 21 38468586 38468586 single base substitution G T downstream_gene_variant MALY-DE 21 38468586 38468586 single base substitution G T intron_variant MALY-DE 21 38468794 38468794 single base substitution G T downstream_gene_variant MALY-DE 21 38468794 38468794 single base substitution G T intron_variant MALY-DE 21 38476953 38476953 single base substitution G A intron_variant MALY-DE 21 38476953 38476953 single base substitution G A upstream_gene_variant MALY-DE 21 38477345 38477345 single base substitution G A intron_variant MALY-DE 21 38477345 38477345 single base substitution G A upstream_gene_variant MALY-DE 21 38493283 38493283 single base substitution C T intron_variant MALY-DE 21 38498161 38498161 single base substitution T A intron_variant MALY-DE 21 38498190 38498190 single base substitution A G intron_variant MALY-DE 21 38498706 38498706 single base substitution T C intron_variant MALY-DE 21 38498769 38498769 single base substitution C G intron_variant MALY-DE 21 38507032 38507032 single base substitution G A intron_variant MALY-DE 21 38511031 38511031 single base substitution T G downstream_gene_variant MALY-DE 21 38511031 38511031 single base substitution T G intron_variant MALY-DE 21 38533285 38533285 single base substitution C T intron_variant MALY-DE 21 38544050 38544050 single base substitution G A intron_variant MALY-DE 21 38570173 38570173 single base substitution A T intron_variant MALY-DE 21 38573464 38573464 single base substitution G A downstream_gene_variant MALY-DE 21 38573464 38573464 single base substitution G A intron_variant MELA-AU 21 38445615 38445615 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 21 38445615 38445615 single base substitution G T exon_variant MELA-AU 21 38445881 38445881 single base substitution C T intron_variant MELA-AU 21 38446052 38446053 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 38446611 38446611 single base substitution C T intron_variant MELA-AU 21 38447367 38447367 single base substitution A G intron_variant MELA-AU 21 38447895 38447895 single base substitution C T intron_variant MELA-AU 21 38448212 38448212 single base substitution C T intron_variant MELA-AU 21 38450699 38450699 single base substitution C T intron_variant MELA-AU 21 38450699 38450699 single base substitution C T upstream_gene_variant MELA-AU 21 38451780 38451780 single base substitution T C intron_variant MELA-AU 21 38451780 38451780 single base substitution T C upstream_gene_variant MELA-AU 21 38451864 38451864 single base substitution C T intron_variant MELA-AU 21 38451864 38451864 single base substitution C T upstream_gene_variant MELA-AU 21 38451864 38451865 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 38451864 38451865 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 21 38452345 38452345 single base substitution C T intron_variant MELA-AU 21 38452345 38452345 single base substitution C T upstream_gene_variant MELA-AU 21 38452876 38452876 single base substitution C T intron_variant MELA-AU 21 38452876 38452876 single base substitution C T upstream_gene_variant MELA-AU 21 38455140 38455140 single base substitution T A 5_prime_UTR_variant MELA-AU 21 38455140 38455140 single base substitution T A intron_variant MELA-AU 21 38455140 38455140 single base substitution T A upstream_gene_variant MELA-AU 21 38455247 38455247 single base substitution C T 5_prime_UTR_variant MELA-AU 21 38455247 38455247 single base substitution C T intron_variant MELA-AU 21 38455247 38455247 single base substitution C T upstream_gene_variant MELA-AU 21 38455249 38455249 single base substitution T C 5_prime_UTR_variant MELA-AU 21 38455249 38455249 single base substitution T C intron_variant MELA-AU 21 38455249 38455249 single base substitution T C upstream_gene_variant MELA-AU 21 38456677 38456677 single base substitution T C intron_variant MELA-AU 21 38456677 38456677 single base substitution T C upstream_gene_variant MELA-AU 21 38456699 38456699 single base substitution C T intron_variant MELA-AU 21 38456699 38456699 single base substitution C T upstream_gene_variant MELA-AU 21 38457947 38457947 single base substitution C T intron_variant MELA-AU 21 38457947 38457947 single base substitution C T upstream_gene_variant MELA-AU 21 38458457 38458457 single base substitution G C 5_prime_UTR_variant MELA-AU 21 38458457 38458457 single base substitution G C exon_variant MELA-AU 21 38458457 38458457 single base substitution G C intron_variant MELA-AU 21 38458487 38458499 deletion of <=200bp AGATTTGAACTTC - 5_prime_UTR_variant MELA-AU 21 38458487 38458499 deletion of <=200bp AGATTTGAACTTC - exon_variant MELA-AU 21 38458487 38458499 deletion of <=200bp AGATTTGAACTTC - intron_variant MELA-AU 21 38460307 38460307 single base substitution T A exon_variant MELA-AU 21 38460307 38460307 single base substitution T A intron_variant MELA-AU 21 38460307 38460307 single base substitution T A upstream_gene_variant MELA-AU 21 38462078 38462078 single base substitution T G intron_variant MELA-AU 21 38462078 38462078 single base substitution T G upstream_gene_variant MELA-AU 21 38462169 38462169 single base substitution C T intron_variant MELA-AU 21 38462169 38462169 single base substitution C T upstream_gene_variant MELA-AU 21 38462301 38462301 single base substitution C T intron_variant MELA-AU 21 38462301 38462301 single base substitution C T upstream_gene_variant MELA-AU 21 38463258 38463258 single base substitution C T intron_variant MELA-AU 21 38463258 38463258 single base substitution C T upstream_gene_variant MELA-AU 21 38463858 38463858 single base substitution T C exon_variant MELA-AU 21 38463858 38463858 single base substitution T C intron_variant MELA-AU 21 38464862 38464862 single base substitution G A intron_variant MELA-AU 21 38465394 38465394 single base substitution C G intron_variant MELA-AU 21 38465907 38465908 multiple base substitution (>=2bp and <=200bp) TT AA downstream_gene_variant MELA-AU 21 38465907 38465908 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 21 38467045 38467045 single base substitution A G downstream_gene_variant MELA-AU 21 38467045 38467045 single base substitution A G intron_variant MELA-AU 21 38467096 38467096 single base substitution C T downstream_gene_variant MELA-AU 21 38467096 38467096 single base substitution C T intron_variant MELA-AU 21 38467465 38467465 single base substitution A G downstream_gene_variant MELA-AU 21 38467465 38467465 single base substitution A G intron_variant MELA-AU 21 38467555 38467555 single base substitution C T downstream_gene_variant MELA-AU 21 38467555 38467555 single base substitution C T intron_variant MELA-AU 21 38467674 38467674 single base substitution G A downstream_gene_variant MELA-AU 21 38467674 38467674 single base substitution G A exon_variant MELA-AU 21 38467674 38467674 single base substitution G A intron_variant MELA-AU 21 38467674 38467674 single base substitution G A missense_variant G220R 658G>A MELA-AU 21 38467674 38467674 single base substitution G A missense_variant G238R 712G>A MELA-AU 21 38468106 38468106 single base substitution C T downstream_gene_variant MELA-AU 21 38468106 38468106 single base substitution C T intron_variant MELA-AU 21 38470025 38470025 single base substitution C T downstream_gene_variant MELA-AU 21 38470025 38470025 single base substitution C T intron_variant MELA-AU 21 38471926 38471927 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 21 38471926 38471927 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 38473787 38473787 single base substitution A C downstream_gene_variant MELA-AU 21 38473787 38473787 single base substitution A C intron_variant MELA-AU 21 38475032 38475032 single base substitution C T downstream_gene_variant MELA-AU 21 38475032 38475032 single base substitution C T intron_variant MELA-AU 21 38475044 38475044 single base substitution C T downstream_gene_variant MELA-AU 21 38475044 38475044 single base substitution C T intron_variant MELA-AU 21 38475044 38475044 single base substitution C T upstream_gene_variant MELA-AU 21 38475180 38475180 single base substitution C T downstream_gene_variant MELA-AU 21 38475180 38475180 single base substitution C T intron_variant MELA-AU 21 38475180 38475180 single base substitution C T upstream_gene_variant MELA-AU 21 38475359 38475359 single base substitution C T downstream_gene_variant MELA-AU 21 38475359 38475359 single base substitution C T intron_variant MELA-AU 21 38475359 38475359 single base substitution C T upstream_gene_variant MELA-AU 21 38475364 38475364 single base substitution C T downstream_gene_variant MELA-AU 21 38475364 38475364 single base substitution C T intron_variant MELA-AU 21 38475364 38475364 single base substitution C T upstream_gene_variant MELA-AU 21 38475568 38475568 single base substitution C T downstream_gene_variant MELA-AU 21 38475568 38475568 single base substitution C T intron_variant MELA-AU 21 38475568 38475568 single base substitution C T upstream_gene_variant MELA-AU 21 38476921 38476921 single base substitution C T intron_variant MELA-AU 21 38476921 38476921 single base substitution C T upstream_gene_variant MELA-AU 21 38479080 38479080 single base substitution C T intron_variant MELA-AU 21 38479080 38479080 single base substitution C T upstream_gene_variant MELA-AU 21 38479567 38479567 single base substitution C T intron_variant MELA-AU 21 38479567 38479567 single base substitution C T upstream_gene_variant MELA-AU 21 38479576 38479576 single base substitution A T intron_variant MELA-AU 21 38479576 38479576 single base substitution A T upstream_gene_variant MELA-AU 21 38479789 38479789 single base substitution T C intron_variant MELA-AU 21 38479789 38479789 single base substitution T C upstream_gene_variant MELA-AU 21 38480307 38480307 single base substitution C G exon_variant MELA-AU 21 38480307 38480307 single base substitution C G intron_variant MELA-AU 21 38480668 38480668 single base substitution T A exon_variant MELA-AU 21 38480668 38480668 single base substitution T A intron_variant MELA-AU 21 38481025 38481025 single base substitution T C intron_variant MELA-AU 21 38481173 38481173 single base substitution A G intron_variant MELA-AU 21 38481607 38481607 single base substitution C T intron_variant MELA-AU 21 38481717 38481717 single base substitution C T intron_variant MELA-AU 21 38481727 38481727 single base substitution C T intron_variant MELA-AU 21 38482238 38482238 single base substitution C T intron_variant MELA-AU 21 38482343 38482343 single base substitution C A intron_variant MELA-AU 21 38482658 38482658 single base substitution C T intron_variant MELA-AU 21 38482728 38482728 single base substitution C T intron_variant MELA-AU 21 38483749 38483749 single base substitution A T intron_variant MELA-AU 21 38483803 38483803 single base substitution C T intron_variant MELA-AU 21 38484416 38484416 single base substitution C T intron_variant MELA-AU 21 38484775 38484775 single base substitution C T intron_variant MELA-AU 21 38485139 38485139 single base substitution C T intron_variant MELA-AU 21 38485689 38485689 single base substitution C T intron_variant MELA-AU 21 38485910 38485910 single base substitution C T intron_variant MELA-AU 21 38486024 38486024 single base substitution A G intron_variant MELA-AU 21 38486245 38486245 single base substitution C T intron_variant MELA-AU 21 38486324 38486324 single base substitution T C intron_variant MELA-AU 21 38488031 38488031 single base substitution T C intron_variant MELA-AU 21 38489061 38489061 single base substitution C T intron_variant MELA-AU 21 38489235 38489235 single base substitution A G intron_variant MELA-AU 21 38490282 38490282 single base substitution C T intron_variant MELA-AU 21 38490582 38490582 single base substitution G A intron_variant MELA-AU 21 38490847 38490847 single base substitution G A intron_variant MELA-AU 21 38491369 38491369 single base substitution C T intron_variant MELA-AU 21 38492003 38492003 single base substitution C T intron_variant MELA-AU 21 38492052 38492052 single base substitution C T intron_variant MELA-AU 21 38492449 38492449 single base substitution G A intron_variant MELA-AU 21 38492499 38492499 single base substitution C T intron_variant MELA-AU 21 38492996 38492997 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 38493387 38493387 single base substitution G A intron_variant MELA-AU 21 38493635 38493635 single base substitution C T exon_variant MELA-AU 21 38493635 38493635 single base substitution C T intron_variant MELA-AU 21 38494336 38494336 single base substitution G A intron_variant MELA-AU 21 38494543 38494543 single base substitution A T intron_variant MELA-AU 21 38494741 38494741 single base substitution A T intron_variant MELA-AU 21 38494868 38494868 single base substitution C T intron_variant MELA-AU 21 38495692 38495692 single base substitution A G intron_variant MELA-AU 21 38495740 38495740 single base substitution C T intron_variant MELA-AU 21 38495777 38495777 single base substitution C T intron_variant MELA-AU 21 38496450 38496450 single base substitution C T intron_variant MELA-AU 21 38496901 38496901 single base substitution C T intron_variant MELA-AU 21 38497615 38497615 single base substitution C T intron_variant MELA-AU 21 38497983 38497983 single base substitution C T intron_variant MELA-AU 21 38498118 38498118 single base substitution A G intron_variant MELA-AU 21 38499762 38499762 single base substitution C T intron_variant MELA-AU 21 38499828 38499828 single base substitution C T intron_variant MELA-AU 21 38500077 38500077 single base substitution C T intron_variant MELA-AU 21 38500760 38500760 single base substitution C T intron_variant MELA-AU 21 38500806 38500806 single base substitution C T intron_variant MELA-AU 21 38500887 38500887 single base substitution C T intron_variant MELA-AU 21 38501146 38501146 single base substitution T C intron_variant MELA-AU 21 38501599 38501599 single base substitution C T intron_variant MELA-AU 21 38501990 38501990 single base substitution G A intron_variant MELA-AU 21 38503021 38503021 single base substitution C T intron_variant MELA-AU 21 38503595 38503596 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 38503862 38503862 single base substitution C T intron_variant MELA-AU 21 38506177 38506177 single base substitution T G intron_variant MELA-AU 21 38506183 38506183 single base substitution T C intron_variant MELA-AU 21 38508335 38508335 single base substitution T C downstream_gene_variant MELA-AU 21 38508335 38508335 single base substitution T C intron_variant MELA-AU 21 38510156 38510156 single base substitution C T downstream_gene_variant MELA-AU 21 38510156 38510156 single base substitution C T intron_variant MELA-AU 21 38510826 38510826 single base substitution C T downstream_gene_variant MELA-AU 21 38510826 38510826 single base substitution C T intron_variant MELA-AU 21 38510954 38510954 single base substitution T C downstream_gene_variant MELA-AU 21 38510954 38510954 single base substitution T C exon_variant MELA-AU 21 38510954 38510954 single base substitution T C synonymous_variant I223I 669T>C MELA-AU 21 38510954 38510954 single base substitution T C synonymous_variant I515I 1545T>C MELA-AU 21 38510954 38510954 single base substitution T C synonymous_variant I533I 1599T>C MELA-AU 21 38511083 38511083 single base substitution C T downstream_gene_variant MELA-AU 21 38511083 38511083 single base substitution C T intron_variant MELA-AU 21 38511166 38511166 single base substitution A T downstream_gene_variant MELA-AU 21 38511166 38511166 single base substitution A T intron_variant MELA-AU 21 38512811 38512811 single base substitution C T intron_variant MELA-AU 21 38512811 38512811 single base substitution C T upstream_gene_variant MELA-AU 21 38513027 38513027 single base substitution C T intron_variant MELA-AU 21 38513027 38513027 single base substitution C T upstream_gene_variant MELA-AU 21 38513292 38513292 single base substitution C G intron_variant MELA-AU 21 38513292 38513292 single base substitution C G upstream_gene_variant MELA-AU 21 38513494 38513494 single base substitution T C intron_variant MELA-AU 21 38513494 38513494 single base substitution T C upstream_gene_variant MELA-AU 21 38513557 38513557 single base substitution G A intron_variant MELA-AU 21 38513557 38513557 single base substitution G A upstream_gene_variant MELA-AU 21 38513574 38513574 single base substitution A T intron_variant MELA-AU 21 38513574 38513574 single base substitution A T upstream_gene_variant MELA-AU 21 38513943 38513943 single base substitution C T intron_variant MELA-AU 21 38513943 38513943 single base substitution C T upstream_gene_variant MELA-AU 21 38514977 38514977 single base substitution A T intron_variant MELA-AU 21 38514977 38514977 single base substitution A T upstream_gene_variant MELA-AU 21 38515191 38515191 single base substitution A T intron_variant MELA-AU 21 38515191 38515191 single base substitution A T upstream_gene_variant MELA-AU 21 38516323 38516323 single base substitution C G intron_variant MELA-AU 21 38516323 38516323 single base substitution C G upstream_gene_variant MELA-AU 21 38517228 38517228 single base substitution T G intron_variant MELA-AU 21 38517729 38517729 single base substitution C T intron_variant MELA-AU 21 38518919 38518919 single base substitution C T intron_variant MELA-AU 21 38518924 38518924 single base substitution C T intron_variant MELA-AU 21 38519313 38519313 single base substitution C T intron_variant MELA-AU 21 38520472 38520472 single base substitution G A intron_variant MELA-AU 21 38520472 38520472 single base substitution G A upstream_gene_variant MELA-AU 21 38520538 38520538 single base substitution G A intron_variant MELA-AU 21 38520538 38520538 single base substitution G A upstream_gene_variant MELA-AU 21 38520664 38520664 single base substitution G A intron_variant MELA-AU 21 38520664 38520664 single base substitution G A upstream_gene_variant MELA-AU 21 38521469 38521469 single base substitution C T intron_variant MELA-AU 21 38521469 38521469 single base substitution C T upstream_gene_variant MELA-AU 21 38521774 38521774 single base substitution C T intron_variant MELA-AU 21 38521774 38521774 single base substitution C T upstream_gene_variant MELA-AU 21 38521865 38521865 single base substitution C T intron_variant MELA-AU 21 38521865 38521865 single base substitution C T upstream_gene_variant MELA-AU 21 38522275 38522275 single base substitution T A intron_variant MELA-AU 21 38522275 38522275 single base substitution T A upstream_gene_variant MELA-AU 21 38522572 38522572 single base substitution C T intron_variant MELA-AU 21 38522572 38522572 single base substitution C T upstream_gene_variant MELA-AU 21 38522933 38522933 single base substitution C T intron_variant MELA-AU 21 38522933 38522933 single base substitution C T upstream_gene_variant MELA-AU 21 38523620 38523620 single base substitution A G intron_variant MELA-AU 21 38523620 38523620 single base substitution A G upstream_gene_variant MELA-AU 21 38524778 38524778 single base substitution C T downstream_gene_variant MELA-AU 21 38524778 38524778 single base substitution C T intron_variant MELA-AU 21 38524778 38524778 single base substitution C T upstream_gene_variant MELA-AU 21 38525218 38525218 single base substitution T G downstream_gene_variant MELA-AU 21 38525218 38525218 single base substitution T G intron_variant MELA-AU 21 38525218 38525218 single base substitution T G upstream_gene_variant MELA-AU 21 38525757 38525757 single base substitution T C downstream_gene_variant MELA-AU 21 38525757 38525757 single base substitution T C intron_variant MELA-AU 21 38525757 38525757 single base substitution T C upstream_gene_variant MELA-AU 21 38526463 38526463 single base substitution T G downstream_gene_variant MELA-AU 21 38526463 38526463 single base substitution T G intron_variant MELA-AU 21 38526463 38526463 single base substitution T G upstream_gene_variant MELA-AU 21 38527304 38527305 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 21 38527304 38527305 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 38527304 38527305 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 21 38527867 38527867 single base substitution T C downstream_gene_variant MELA-AU 21 38527867 38527867 single base substitution T C intron_variant MELA-AU 21 38527867 38527867 single base substitution T C upstream_gene_variant MELA-AU 21 38528447 38528447 single base substitution C T downstream_gene_variant MELA-AU 21 38528447 38528447 single base substitution C T intron_variant MELA-AU 21 38528447 38528447 single base substitution C T upstream_gene_variant MELA-AU 21 38528593 38528593 single base substitution C T downstream_gene_variant MELA-AU 21 38528593 38528593 single base substitution C T intron_variant MELA-AU 21 38528593 38528593 single base substitution C T upstream_gene_variant MELA-AU 21 38528677 38528677 single base substitution C T downstream_gene_variant MELA-AU 21 38528677 38528677 single base substitution C T intron_variant MELA-AU 21 38528677 38528677 single base substitution C T upstream_gene_variant MELA-AU 21 38528986 38528986 single base substitution C T downstream_gene_variant MELA-AU 21 38528986 38528986 single base substitution C T exon_variant MELA-AU 21 38528986 38528986 single base substitution C T missense_variant R61C 181C>T MELA-AU 21 38528986 38528986 single base substitution C T missense_variant R906C 2716C>T MELA-AU 21 38528986 38528986 single base substitution C T missense_variant R924C 2770C>T MELA-AU 21 38528986 38528986 single base substitution C T upstream_gene_variant MELA-AU 21 38532295 38532295 single base substitution A T intron_variant MELA-AU 21 38532977 38532977 deletion of <=200bp A - intron_variant MELA-AU 21 38533115 38533115 single base substitution C T exon_variant MELA-AU 21 38533115 38533115 single base substitution C T synonymous_variant T1017T 3051C>T MELA-AU 21 38533115 38533115 single base substitution C T synonymous_variant T172T 516C>T MELA-AU 21 38533115 38533115 single base substitution C T synonymous_variant T999T 2997C>T MELA-AU 21 38533669 38533669 single base substitution C T intron_variant MELA-AU 21 38533672 38533672 single base substitution G A intron_variant MELA-AU 21 38534099 38534099 single base substitution T A intron_variant MELA-AU 21 38534174 38534174 single base substitution T G intron_variant MELA-AU 21 38535270 38535270 single base substitution G A intron_variant MELA-AU 21 38536109 38536109 single base substitution C T intron_variant MELA-AU 21 38536954 38536954 single base substitution T A intron_variant MELA-AU 21 38537005 38537005 single base substitution A C intron_variant MELA-AU 21 38537127 38537127 single base substitution C T intron_variant MELA-AU 21 38537186 38537186 single base substitution C T intron_variant MELA-AU 21 38538193 38538193 single base substitution C T downstream_gene_variant MELA-AU 21 38538193 38538193 single base substitution C T exon_variant MELA-AU 21 38538193 38538193 single base substitution C T missense_variant S1226L 3677C>T MELA-AU 21 38538554 38538554 single base substitution C T downstream_gene_variant MELA-AU 21 38538554 38538554 single base substitution C T exon_variant MELA-AU 21 38538554 38538554 single base substitution C T synonymous_variant T1346T 4038C>T MELA-AU 21 38538977 38538977 single base substitution C T downstream_gene_variant MELA-AU 21 38538977 38538977 single base substitution C T intron_variant MELA-AU 21 38538982 38538982 single base substitution C T downstream_gene_variant MELA-AU 21 38538982 38538982 single base substitution C T intron_variant MELA-AU 21 38539505 38539506 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 21 38539505 38539506 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 38539838 38539838 single base substitution T A downstream_gene_variant MELA-AU 21 38539838 38539838 single base substitution T A intron_variant MELA-AU 21 38539913 38539913 single base substitution G A downstream_gene_variant MELA-AU 21 38539913 38539913 single base substitution G A exon_variant MELA-AU 21 38539913 38539913 single base substitution G A synonymous_variant E1486E 4458G>A MELA-AU 21 38540134 38540134 single base substitution C T downstream_gene_variant MELA-AU 21 38540134 38540134 single base substitution C T intron_variant MELA-AU 21 38540376 38540376 single base substitution C T downstream_gene_variant MELA-AU 21 38540376 38540376 single base substitution C T intron_variant MELA-AU 21 38540659 38540659 single base substitution G A downstream_gene_variant MELA-AU 21 38540659 38540659 single base substitution G A intron_variant MELA-AU 21 38541271 38541271 single base substitution C T downstream_gene_variant MELA-AU 21 38541271 38541271 single base substitution C T intron_variant MELA-AU 21 38541423 38541423 single base substitution C T downstream_gene_variant MELA-AU 21 38541423 38541423 single base substitution C T intron_variant MELA-AU 21 38542124 38542124 single base substitution C T downstream_gene_variant MELA-AU 21 38542124 38542124 single base substitution C T intron_variant MELA-AU 21 38542388 38542388 single base substitution A G downstream_gene_variant MELA-AU 21 38542388 38542388 single base substitution A G intron_variant MELA-AU 21 38543964 38543964 single base substitution T G intron_variant MELA-AU 21 38544921 38544921 single base substitution G A exon_variant MELA-AU 21 38544921 38544921 single base substitution G A missense_variant E1498K 4492G>A MELA-AU 21 38545293 38545293 single base substitution A G intron_variant MELA-AU 21 38546454 38546454 single base substitution C T intron_variant MELA-AU 21 38547791 38547791 single base substitution C T intron_variant MELA-AU 21 38548355 38548356 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 38548606 38548606 single base substitution C T intron_variant MELA-AU 21 38548673 38548673 single base substitution C T intron_variant MELA-AU 21 38548851 38548851 single base substitution C T intron_variant MELA-AU 21 38548917 38548917 single base substitution C T intron_variant MELA-AU 21 38548946 38548946 single base substitution C T intron_variant MELA-AU 21 38549752 38549752 single base substitution C T intron_variant MELA-AU 21 38550390 38550390 single base substitution C T intron_variant MELA-AU 21 38550838 38550839 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 38550869 38550869 single base substitution C T intron_variant MELA-AU 21 38551041 38551041 single base substitution C T intron_variant MELA-AU 21 38551481 38551481 single base substitution C G intron_variant MELA-AU 21 38551740 38551740 single base substitution C T intron_variant MELA-AU 21 38551789 38551789 single base substitution C T intron_variant MELA-AU 21 38553246 38553246 single base substitution C T intron_variant MELA-AU 21 38553484 38553484 single base substitution C T intron_variant MELA-AU 21 38553556 38553556 single base substitution C T intron_variant MELA-AU 21 38553947 38553947 single base substitution C T intron_variant MELA-AU 21 38554136 38554136 single base substitution C T intron_variant MELA-AU 21 38554951 38554951 single base substitution G A intron_variant MELA-AU 21 38555114 38555114 single base substitution G A exon_variant MELA-AU 21 38555114 38555114 single base substitution G A synonymous_variant L1552L 4656G>A MELA-AU 21 38555198 38555198 single base substitution T G exon_variant MELA-AU 21 38555198 38555198 single base substitution T G synonymous_variant V1580V 4740T>G MELA-AU 21 38555463 38555463 single base substitution C T intron_variant MELA-AU 21 38555477 38555477 single base substitution T A intron_variant MELA-AU 21 38555479 38555479 single base substitution C T intron_variant MELA-AU 21 38556967 38556967 single base substitution C T intron_variant MELA-AU 21 38557022 38557022 single base substitution C T intron_variant MELA-AU 21 38557314 38557314 single base substitution C T intron_variant MELA-AU 21 38557613 38557613 single base substitution A G intron_variant MELA-AU 21 38558496 38558496 single base substitution C T downstream_gene_variant MELA-AU 21 38558496 38558496 single base substitution C T intron_variant MELA-AU 21 38558902 38558902 single base substitution A G downstream_gene_variant MELA-AU 21 38558902 38558902 single base substitution A G intron_variant MELA-AU 21 38558902 38558902 single base substitution A G upstream_gene_variant MELA-AU 21 38559335 38559335 single base substitution C T downstream_gene_variant MELA-AU 21 38559335 38559335 single base substitution C T intron_variant MELA-AU 21 38559335 38559335 single base substitution C T upstream_gene_variant MELA-AU 21 38561065 38561065 single base substitution C T downstream_gene_variant MELA-AU 21 38561065 38561065 single base substitution C T intron_variant MELA-AU 21 38561065 38561065 single base substitution C T upstream_gene_variant MELA-AU 21 38561845 38561845 single base substitution T G downstream_gene_variant MELA-AU 21 38561845 38561845 single base substitution T G intron_variant MELA-AU 21 38561845 38561845 single base substitution T G upstream_gene_variant MELA-AU 21 38562283 38562283 single base substitution C T downstream_gene_variant MELA-AU 21 38562283 38562283 single base substitution C T intron_variant MELA-AU 21 38562283 38562283 single base substitution C T upstream_gene_variant MELA-AU 21 38562738 38562738 single base substitution T C downstream_gene_variant MELA-AU 21 38562738 38562738 single base substitution T C intron_variant MELA-AU 21 38562738 38562738 single base substitution T C upstream_gene_variant MELA-AU 21 38563368 38563368 single base substitution A G downstream_gene_variant MELA-AU 21 38563368 38563368 single base substitution A G intron_variant MELA-AU 21 38563368 38563368 single base substitution A G upstream_gene_variant MELA-AU 21 38563396 38563396 single base substitution G A intron_variant MELA-AU 21 38563396 38563396 single base substitution G A upstream_gene_variant MELA-AU 21 38563401 38563401 single base substitution T C intron_variant MELA-AU 21 38563401 38563401 single base substitution T C upstream_gene_variant MELA-AU 21 38563497 38563497 single base substitution T C intron_variant MELA-AU 21 38563497 38563497 single base substitution T C upstream_gene_variant MELA-AU 21 38563888 38563888 single base substitution T G intron_variant MELA-AU 21 38563888 38563888 single base substitution T G upstream_gene_variant MELA-AU 21 38565202 38565202 single base substitution G A intron_variant MELA-AU 21 38565202 38565202 single base substitution G A upstream_gene_variant MELA-AU 21 38566637 38566637 single base substitution T G intron_variant MELA-AU 21 38566637 38566637 single base substitution T G upstream_gene_variant MELA-AU 21 38567783 38567783 single base substitution C T intron_variant MELA-AU 21 38567972 38567972 single base substitution A G splice_region_variant MELA-AU 21 38570407 38570407 single base substitution C T downstream_gene_variant MELA-AU 21 38570407 38570407 single base substitution C T intron_variant MELA-AU 21 38570820 38570820 single base substitution G A downstream_gene_variant MELA-AU 21 38570820 38570820 single base substitution G A intron_variant MELA-AU 21 38572194 38572194 single base substitution T A downstream_gene_variant MELA-AU 21 38572194 38572194 single base substitution T A intron_variant MELA-AU 21 38573049 38573049 single base substitution C T downstream_gene_variant MELA-AU 21 38573049 38573049 single base substitution C T intron_variant MELA-AU 21 38574190 38574190 single base substitution A G 3_prime_UTR_variant MELA-AU 21 38574190 38574190 single base substitution A G downstream_gene_variant MELA-AU 21 38574190 38574190 single base substitution A G exon_variant MELA-AU 21 38574326 38574326 single base substitution C T 3_prime_UTR_variant MELA-AU 21 38574326 38574326 single base substitution C T downstream_gene_variant MELA-AU 21 38574326 38574326 single base substitution C T exon_variant MELA-AU 21 38574603 38574603 single base substitution C T 3_prime_UTR_variant MELA-AU 21 38574603 38574603 single base substitution C T downstream_gene_variant MELA-AU 21 38574603 38574603 single base substitution C T exon_variant MELA-AU 21 38575416 38575416 single base substitution G T downstream_gene_variant MELA-AU 21 38576905 38576905 single base substitution C T downstream_gene_variant MELA-AU 21 38577040 38577040 single base substitution T C downstream_gene_variant MELA-AU 21 38577309 38577309 single base substitution C T downstream_gene_variant MELA-AU 21 38577414 38577415 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 21 38579173 38579173 single base substitution A G downstream_gene_variant MELA-AU 21 38579932 38579932 single base substitution C T downstream_gene_variant ORCA-IN 21 38444207 38444207 single base substitution C T upstream_gene_variant ORCA-IN 21 38444756 38444756 single base substitution G T upstream_gene_variant ORCA-IN 21 38456321 38456321 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant ORCA-IN 21 38456321 38456321 single base substitution C G exon_variant ORCA-IN 21 38456321 38456321 single base substitution C G intron_variant ORCA-IN 21 38456321 38456321 single base substitution C G upstream_gene_variant ORCA-IN 21 38469314 38469314 single base substitution T G downstream_gene_variant ORCA-IN 21 38469314 38469314 single base substitution T G intron_variant ORCA-IN 21 38470292 38470292 single base substitution C T 3_prime_UTR_variant ORCA-IN 21 38470292 38470292 single base substitution C T downstream_gene_variant ORCA-IN 21 38470292 38470292 single base substitution C T intron_variant ORCA-IN 21 38494211 38494211 single base substitution A T exon_variant ORCA-IN 21 38494211 38494211 single base substitution A T intron_variant ORCA-IN 21 38494211 38494211 single base substitution A T missense_variant D22V 65A>T ORCA-IN 21 38494211 38494211 single base substitution A T missense_variant D314V 941A>T ORCA-IN 21 38494211 38494211 single base substitution A T missense_variant D332V 995A>T ORCA-IN 21 38496947 38496947 single base substitution C G exon_variant ORCA-IN 21 38496947 38496947 single base substitution C G missense_variant P362A 1084C>G ORCA-IN 21 38496947 38496947 single base substitution C G missense_variant P380A 1138C>G ORCA-IN 21 38496947 38496947 single base substitution C G missense_variant P70A 208C>G ORCA-IN 21 38503617 38503617 single base substitution T A intron_variant ORCA-IN 21 38504849 38504849 single base substitution G A intron_variant ORCA-IN 21 38513245 38513245 single base substitution C T intron_variant ORCA-IN 21 38513245 38513245 single base substitution C T upstream_gene_variant ORCA-IN 21 38520908 38520908 single base substitution G A exon_variant ORCA-IN 21 38520908 38520908 single base substitution G A intron_variant ORCA-IN 21 38520908 38520908 single base substitution G A synonymous_variant K383K 1149G>A ORCA-IN 21 38520908 38520908 single base substitution G A synonymous_variant K675K 2025G>A ORCA-IN 21 38520908 38520908 single base substitution G A synonymous_variant K693K 2079G>A ORCA-IN 21 38520908 38520908 single base substitution G A upstream_gene_variant ORCA-IN 21 38579542 38579542 single base substitution G A downstream_gene_variant OV-AU 21 38442807 38442807 single base substitution T C upstream_gene_variant OV-AU 21 38445577 38445577 single base substitution T C 5_prime_UTR_variant OV-AU 21 38445577 38445577 single base substitution T C exon_variant OV-AU 21 38445577 38445577 single base substitution T C upstream_gene_variant OV-AU 21 38450263 38450263 single base substitution T G intron_variant OV-AU 21 38450263 38450263 single base substitution T G upstream_gene_variant OV-AU 21 38456697 38456697 single base substitution A C intron_variant OV-AU 21 38456697 38456697 single base substitution A C upstream_gene_variant OV-AU 21 38460865 38460865 single base substitution A T intron_variant OV-AU 21 38460865 38460865 single base substitution A T upstream_gene_variant OV-AU 21 38475476 38475476 single base substitution A G downstream_gene_variant OV-AU 21 38475476 38475476 single base substitution A G intron_variant OV-AU 21 38475476 38475476 single base substitution A G upstream_gene_variant OV-AU 21 38476476 38476476 single base substitution G C intron_variant OV-AU 21 38476476 38476476 single base substitution G C upstream_gene_variant OV-AU 21 38480160 38480160 single base substitution T G exon_variant OV-AU 21 38480160 38480160 single base substitution T G intron_variant OV-AU 21 38487659 38487659 single base substitution G T intron_variant OV-AU 21 38489184 38489184 single base substitution C T intron_variant OV-AU 21 38492171 38492171 single base substitution C T intron_variant OV-AU 21 38492172 38492172 single base substitution C T intron_variant OV-AU 21 38500244 38500244 single base substitution G A intron_variant OV-AU 21 38508748 38508748 single base substitution C T downstream_gene_variant OV-AU 21 38508748 38508748 single base substitution C T intron_variant OV-AU 21 38509038 38509038 single base substitution T C downstream_gene_variant OV-AU 21 38509038 38509038 single base substitution T C intron_variant OV-AU 21 38509317 38509317 single base substitution G A downstream_gene_variant OV-AU 21 38509317 38509317 single base substitution G A intron_variant OV-AU 21 38516573 38516573 single base substitution A G intron_variant OV-AU 21 38516573 38516573 single base substitution A G upstream_gene_variant OV-AU 21 38517046 38517046 single base substitution A C intron_variant OV-AU 21 38517904 38517904 single base substitution C G intron_variant OV-AU 21 38518303 38518303 single base substitution C A intron_variant OV-AU 21 38519516 38519516 single base substitution A T intron_variant OV-AU 21 38523230 38523230 single base substitution A C intron_variant OV-AU 21 38523230 38523230 single base substitution A C upstream_gene_variant OV-AU 21 38524049 38524049 single base substitution A G intron_variant OV-AU 21 38524049 38524049 single base substitution A G upstream_gene_variant OV-AU 21 38527082 38527082 single base substitution C T downstream_gene_variant OV-AU 21 38527082 38527082 single base substitution C T intron_variant OV-AU 21 38527082 38527082 single base substitution C T upstream_gene_variant OV-AU 21 38544472 38544472 single base substitution A G intron_variant OV-AU 21 38545360 38545360 single base substitution T G intron_variant OV-AU 21 38556643 38556643 single base substitution T G intron_variant OV-AU 21 38564905 38564905 single base substitution G A intron_variant OV-AU 21 38564905 38564905 single base substitution G A upstream_gene_variant OV-AU 21 38572124 38572124 single base substitution G C downstream_gene_variant OV-AU 21 38572124 38572124 single base substitution G C intron_variant OV-AU 21 38577443 38577443 single base substitution G A downstream_gene_variant OV-US 21 38497001 38497001 single base substitution A G exon_variant OV-US 21 38497001 38497001 single base substitution A G missense_variant I380V 1138A>G OV-US 21 38497001 38497001 single base substitution A G missense_variant I398V 1192A>G OV-US 21 38497001 38497001 single base substitution A G missense_variant I88V 262A>G OV-US 21 38537877 38537877 single base substitution C G exon_variant OV-US 21 38537877 38537877 single base substitution C G missense_variant H1103D 3307C>G OV-US 21 38537877 38537877 single base substitution C G missense_variant H1121D 3361C>G OV-US 21 38537877 38537877 single base substitution C G missense_variant H276D 826C>G PACA-AU 21 38445596 38445596 single base substitution T G 5_prime_UTR_variant PACA-AU 21 38445596 38445596 single base substitution T G exon_variant PACA-AU 21 38446684 38446684 single base substitution C G intron_variant PACA-AU 21 38461044 38461044 insertion of <=200bp - AAT intron_variant PACA-AU 21 38461044 38461044 insertion of <=200bp - AAT upstream_gene_variant PACA-AU 21 38461047 38461047 single base substitution G A intron_variant PACA-AU 21 38461047 38461047 single base substitution G A upstream_gene_variant PACA-AU 21 38466036 38466036 single base substitution T G downstream_gene_variant PACA-AU 21 38466036 38466036 single base substitution T G intron_variant PACA-AU 21 38468787 38468787 deletion of <=200bp A - downstream_gene_variant PACA-AU 21 38468787 38468787 deletion of <=200bp A - intron_variant PACA-AU 21 38474933 38474933 single base substitution C A downstream_gene_variant PACA-AU 21 38474933 38474933 single base substitution C A intron_variant PACA-AU 21 38478139 38478139 single base substitution T A intron_variant PACA-AU 21 38478139 38478139 single base substitution T A upstream_gene_variant PACA-AU 21 38479986 38479986 single base substitution A G intron_variant PACA-AU 21 38479986 38479986 single base substitution A G upstream_gene_variant PACA-AU 21 38481869 38481869 single base substitution C T intron_variant PACA-AU 21 38490902 38490902 single base substitution A C intron_variant PACA-AU 21 38494231 38494231 single base substitution C A exon_variant PACA-AU 21 38494231 38494231 single base substitution C A intron_variant PACA-AU 21 38494231 38494231 single base substitution C A missense_variant L29I 85C>A PACA-AU 21 38494231 38494231 single base substitution C A missense_variant L321I 961C>A PACA-AU 21 38494231 38494231 single base substitution C A missense_variant L339I 1015C>A PACA-AU 21 38494440 38494440 single base substitution T A intron_variant PACA-AU 21 38496959 38496963 deletion of <=200bp ACTTC - exon_variant PACA-AU 21 38496959 38496963 deletion of <=200bp ACTTC - frameshift_variant TS366 PACA-AU 21 38496959 38496963 deletion of <=200bp ACTTC - frameshift_variant TS384 PACA-AU 21 38496959 38496963 deletion of <=200bp ACTTC - frameshift_variant TS74 PACA-AU 21 38497119 38497119 single base substitution T C intron_variant PACA-AU 21 38499258 38499258 single base substitution A T intron_variant PACA-AU 21 38499405 38499405 single base substitution T A intron_variant PACA-AU 21 38499649 38499649 single base substitution G A intron_variant PACA-AU 21 38501842 38501842 insertion of <=200bp - A intron_variant PACA-AU 21 38510397 38510397 single base substitution G A downstream_gene_variant PACA-AU 21 38510397 38510397 single base substitution G A intron_variant PACA-AU 21 38513739 38513739 deletion of <=200bp C - intron_variant PACA-AU 21 38513739 38513739 deletion of <=200bp C - upstream_gene_variant PACA-AU 21 38519356 38519356 single base substitution G T intron_variant PACA-AU 21 38524404 38524404 single base substitution C G downstream_gene_variant PACA-AU 21 38524404 38524404 single base substitution C G intron_variant PACA-AU 21 38524404 38524404 single base substitution C G upstream_gene_variant PACA-AU 21 38529033 38529033 single base substitution C T downstream_gene_variant PACA-AU 21 38529033 38529033 single base substitution C T exon_variant PACA-AU 21 38529033 38529033 single base substitution C T synonymous_variant F76F 228C>T PACA-AU 21 38529033 38529033 single base substitution C T synonymous_variant F921F 2763C>T PACA-AU 21 38529033 38529033 single base substitution C T synonymous_variant F939F 2817C>T PACA-AU 21 38529033 38529033 single base substitution C T upstream_gene_variant PACA-AU 21 38551171 38551171 single base substitution A T intron_variant PACA-AU 21 38551985 38551985 deletion of <=200bp G - intron_variant PACA-AU 21 38556765 38556788 deletion of <=200bp TTTTTTTTTGAGACAGAGTTTTGC - intron_variant PACA-AU 21 38565137 38565137 single base substitution A G intron_variant PACA-AU 21 38565137 38565137 single base substitution A G upstream_gene_variant PACA-AU 21 38576449 38576449 single base substitution G A downstream_gene_variant PACA-AU 21 38579134 38579134 single base substitution T C downstream_gene_variant PACA-AU 21 38580164 38580164 single base substitution G T downstream_gene_variant PACA-CA 21 38441245 38441245 single base substitution T C upstream_gene_variant PACA-CA 21 38443538 38443538 single base substitution T C upstream_gene_variant PACA-CA 21 38444108 38444108 single base substitution G A upstream_gene_variant PACA-CA 21 38446601 38446601 single base substitution C T intron_variant PACA-CA 21 38447759 38447759 single base substitution C T intron_variant PACA-CA 21 38452179 38452179 single base substitution T C intron_variant PACA-CA 21 38452179 38452179 single base substitution T C upstream_gene_variant PACA-CA 21 38468944 38468944 single base substitution G T downstream_gene_variant PACA-CA 21 38468944 38468944 single base substitution G T exon_variant PACA-CA 21 38468944 38468944 single base substitution G T intron_variant PACA-CA 21 38468944 38468944 single base substitution G T splice_donor_variant PACA-CA 21 38471704 38471704 single base substitution G T downstream_gene_variant PACA-CA 21 38471704 38471704 single base substitution G T intron_variant PACA-CA 21 38477265 38477265 single base substitution C G intron_variant PACA-CA 21 38477265 38477265 single base substitution C G upstream_gene_variant PACA-CA 21 38485395 38485395 single base substitution G T intron_variant PACA-CA 21 38488708 38488708 single base substitution C T intron_variant PACA-CA 21 38490025 38490025 single base substitution T C intron_variant PACA-CA 21 38490250 38490250 single base substitution T A intron_variant PACA-CA 21 38493697 38493697 single base substitution C T intron_variant PACA-CA 21 38497775 38497775 single base substitution G A intron_variant PACA-CA 21 38499363 38499363 single base substitution C A intron_variant PACA-CA 21 38501819 38501819 deletion of <=200bp T - intron_variant PACA-CA 21 38506668 38506668 single base substitution T C intron_variant PACA-CA 21 38511669 38511669 single base substitution C T downstream_gene_variant PACA-CA 21 38511669 38511669 single base substitution C T intron_variant PACA-CA 21 38511862 38511862 single base substitution G A downstream_gene_variant PACA-CA 21 38511862 38511862 single base substitution G A intron_variant PACA-CA 21 38511862 38511862 single base substitution G A upstream_gene_variant PACA-CA 21 38516877 38516877 single base substitution C G exon_variant PACA-CA 21 38516877 38516877 single base substitution C G missense_variant L299V 895C>G PACA-CA 21 38516877 38516877 single base substitution C G missense_variant L591V 1771C>G PACA-CA 21 38516877 38516877 single base substitution C G missense_variant L609V 1825C>G PACA-CA 21 38516877 38516877 single base substitution C G missense_variant L6V 16C>G PACA-CA 21 38524570 38524571 deletion of <=200bp TT - downstream_gene_variant PACA-CA 21 38524570 38524571 deletion of <=200bp TT - intron_variant PACA-CA 21 38524570 38524571 deletion of <=200bp TT - upstream_gene_variant PACA-CA 21 38526170 38526170 single base substitution A T downstream_gene_variant PACA-CA 21 38526170 38526170 single base substitution A T intron_variant PACA-CA 21 38526170 38526170 single base substitution A T upstream_gene_variant PACA-CA 21 38535654 38535654 single base substitution A T intron_variant PACA-CA 21 38542089 38542089 single base substitution G A downstream_gene_variant PACA-CA 21 38542089 38542089 single base substitution G A intron_variant PACA-CA 21 38556549 38556549 insertion of <=200bp - T intron_variant PACA-CA 21 38556617 38556617 single base substitution A T intron_variant PACA-CA 21 38561789 38561789 single base substitution C G downstream_gene_variant PACA-CA 21 38561789 38561789 single base substitution C G intron_variant PACA-CA 21 38561789 38561789 single base substitution C G upstream_gene_variant PACA-CA 21 38565492 38565492 single base substitution G A intron_variant PACA-CA 21 38565492 38565492 single base substitution G A upstream_gene_variant PACA-CA 21 38567287 38567287 single base substitution C A exon_variant PACA-CA 21 38567287 38567287 single base substitution C A intron_variant PACA-CA 21 38567474 38567474 single base substitution C G intron_variant PACA-CA 21 38570577 38570577 single base substitution C T downstream_gene_variant PACA-CA 21 38570577 38570577 single base substitution C T intron_variant PACA-CA 21 38578856 38578856 single base substitution C A downstream_gene_variant PAEN-AU 21 38470002 38470002 single base substitution A G downstream_gene_variant PAEN-AU 21 38470002 38470002 single base substitution A G intron_variant PAEN-AU 21 38535717 38535717 single base substitution A C intron_variant PAEN-IT 21 38454031 38454031 single base substitution A C 5_prime_UTR_variant PAEN-IT 21 38454031 38454031 single base substitution A C intron_variant PAEN-IT 21 38454031 38454031 single base substitution A C upstream_gene_variant PAEN-IT 21 38491439 38491439 single base substitution C A intron_variant PAEN-IT 21 38504148 38504148 single base substitution G A intron_variant PAEN-IT 21 38508317 38508317 single base substitution G T downstream_gene_variant PAEN-IT 21 38508317 38508317 single base substitution G T intron_variant PAEN-IT 21 38530560 38530560 single base substitution C T downstream_gene_variant PAEN-IT 21 38530560 38530560 single base substitution C T intron_variant PAEN-IT 21 38530560 38530560 single base substitution C T upstream_gene_variant PAEN-IT 21 38550933 38550933 single base substitution T G intron_variant PAEN-IT 21 38579178 38579178 single base substitution G A downstream_gene_variant PBCA-DE 21 38440552 38440552 single base substitution T G upstream_gene_variant PBCA-DE 21 38450907 38450907 insertion of <=200bp - TTAT intron_variant PBCA-DE 21 38450907 38450907 insertion of <=200bp - TTAT upstream_gene_variant PBCA-DE 21 38450938 38450938 single base substitution A T intron_variant PBCA-DE 21 38450938 38450938 single base substitution A T upstream_gene_variant PBCA-DE 21 38451130 38451130 single base substitution C T intron_variant PBCA-DE 21 38451130 38451130 single base substitution C T upstream_gene_variant PBCA-DE 21 38453459 38453459 single base substitution T C intron_variant PBCA-DE 21 38453459 38453459 single base substitution T C upstream_gene_variant PBCA-DE 21 38460610 38460610 single base substitution C T exon_variant PBCA-DE 21 38460610 38460610 single base substitution C T intron_variant PBCA-DE 21 38460610 38460610 single base substitution C T missense_variant S101F 302C>T PBCA-DE 21 38460610 38460610 single base substitution C T upstream_gene_variant PBCA-DE 21 38462959 38462959 single base substitution T A intron_variant PBCA-DE 21 38462959 38462959 single base substitution T A upstream_gene_variant PBCA-DE 21 38464902 38464902 deletion of <=200bp T - intron_variant PBCA-DE 21 38467438 38467439 deletion of <=200bp TG - downstream_gene_variant PBCA-DE 21 38467438 38467439 deletion of <=200bp TG - intron_variant PBCA-DE 21 38469723 38469723 single base substitution T G downstream_gene_variant PBCA-DE 21 38469723 38469723 single base substitution T G intron_variant PBCA-DE 21 38473559 38473559 single base substitution A T downstream_gene_variant PBCA-DE 21 38473559 38473559 single base substitution A T intron_variant PBCA-DE 21 38484861 38484861 single base substitution T C intron_variant PBCA-DE 21 38498643 38498643 single base substitution G A intron_variant PBCA-DE 21 38501424 38501424 deletion of <=200bp A - intron_variant PBCA-DE 21 38506204 38506204 deletion of <=200bp A - intron_variant PBCA-DE 21 38506208 38506208 single base substitution C T intron_variant PBCA-DE 21 38510350 38510350 insertion of <=200bp - A downstream_gene_variant PBCA-DE 21 38510350 38510350 insertion of <=200bp - A intron_variant PBCA-DE 21 38529256 38529256 insertion of <=200bp - A downstream_gene_variant PBCA-DE 21 38529256 38529256 insertion of <=200bp - A intron_variant PBCA-DE 21 38529256 38529256 insertion of <=200bp - A upstream_gene_variant PBCA-DE 21 38548177 38548177 single base substitution T A intron_variant PBCA-DE 21 38548179 38548179 single base substitution C T intron_variant PBCA-DE 21 38548180 38548180 single base substitution T C intron_variant PBCA-DE 21 38548181 38548181 single base substitution C T intron_variant PBCA-DE 21 38548183 38548183 single base substitution T C intron_variant PBCA-DE 21 38548184 38548184 single base substitution G T intron_variant PBCA-DE 21 38548185 38548185 single base substitution C G intron_variant PBCA-DE 21 38548187 38548187 single base substitution T C intron_variant PBCA-DE 21 38548188 38548188 single base substitution C T intron_variant PBCA-DE 21 38548189 38548189 single base substitution A C intron_variant PBCA-DE 21 38548190 38548190 single base substitution G A intron_variant PBCA-DE 21 38548191 38548191 single base substitution C G intron_variant PBCA-DE 21 38548193 38548193 single base substitution T C intron_variant PBCA-DE 21 38548194 38548194 single base substitution C T intron_variant PBCA-DE 21 38548196 38548196 single base substitution T C intron_variant PBCA-DE 21 38548197 38548197 single base substitution G T intron_variant PBCA-DE 21 38548200 38548200 single base substitution T G intron_variant PBCA-DE 21 38548201 38548201 single base substitution A T intron_variant PBCA-DE 21 38548202 38548202 single base substitution G A intron_variant PBCA-DE 21 38548203 38548203 single base substitution C G intron_variant PBCA-DE 21 38548204 38548204 single base substitution T C intron_variant PBCA-DE 21 38548205 38548205 single base substitution G T intron_variant PBCA-DE 21 38548208 38548208 single base substitution A G intron_variant PBCA-DE 21 38548209 38548209 single base substitution T A intron_variant PBCA-DE 21 38548211 38548211 single base substitution A T intron_variant PBCA-DE 21 38548212 38548212 single base substitution C A intron_variant PBCA-DE 21 38548213 38548213 single base substitution A C intron_variant PBCA-DE 21 38548214 38548214 single base substitution G A intron_variant PBCA-DE 21 38556550 38556550 deletion of <=200bp T - intron_variant PBCA-DE 21 38563836 38563836 insertion of <=200bp - T intron_variant PBCA-DE 21 38563836 38563836 insertion of <=200bp - T upstream_gene_variant PRAD-CA 21 38467826 38467826 single base substitution C T downstream_gene_variant PRAD-CA 21 38467826 38467826 single base substitution C T intron_variant PRAD-CA 21 38498793 38498793 single base substitution A G intron_variant PRAD-CA 21 38507601 38507601 single base substitution T G intron_variant PRAD-CA 21 38507738 38507738 single base substitution T C downstream_gene_variant PRAD-CA 21 38507738 38507738 single base substitution T C exon_variant PRAD-CA 21 38507738 38507738 single base substitution T C missense_variant L191S 572T>C PRAD-CA 21 38507738 38507738 single base substitution T C missense_variant L483S 1448T>C PRAD-CA 21 38507738 38507738 single base substitution T C missense_variant L501S 1502T>C PRAD-CA 21 38524692 38524692 single base substitution G T downstream_gene_variant PRAD-CA 21 38524692 38524692 single base substitution G T intron_variant PRAD-CA 21 38524692 38524692 single base substitution G T upstream_gene_variant PRAD-CA 21 38536178 38536178 single base substitution C G intron_variant PRAD-CA 21 38546620 38546620 single base substitution C A intron_variant PRAD-CA 21 38551037 38551037 single base substitution A T intron_variant PRAD-UK 21 38446563 38446563 single base substitution C G intron_variant PRAD-UK 21 38472086 38472086 single base substitution C A downstream_gene_variant PRAD-UK 21 38472086 38472086 single base substitution C A intron_variant PRAD-UK 21 38474635 38474635 single base substitution A G downstream_gene_variant PRAD-UK 21 38474635 38474635 single base substitution A G intron_variant PRAD-UK 21 38480551 38480551 single base substitution A T exon_variant PRAD-UK 21 38480551 38480551 single base substitution A T intron_variant PRAD-UK 21 38484349 38484349 single base substitution G T intron_variant PRAD-UK 21 38485719 38485719 single base substitution T G intron_variant PRAD-UK 21 38501429 38501429 single base substitution A G intron_variant PRAD-UK 21 38522959 38522959 single base substitution T C intron_variant PRAD-UK 21 38522959 38522959 single base substitution T C upstream_gene_variant PRAD-UK 21 38525846 38525846 single base substitution C G downstream_gene_variant PRAD-UK 21 38525846 38525846 single base substitution C G intron_variant PRAD-UK 21 38525846 38525846 single base substitution C G upstream_gene_variant PRAD-UK 21 38525847 38525847 single base substitution C G downstream_gene_variant PRAD-UK 21 38525847 38525847 single base substitution C G intron_variant PRAD-UK 21 38525847 38525847 single base substitution C G upstream_gene_variant PRAD-UK 21 38526992 38526995 deletion of <=200bp TTTG - downstream_gene_variant PRAD-UK 21 38526992 38526995 deletion of <=200bp TTTG - intron_variant PRAD-UK 21 38526992 38526995 deletion of <=200bp TTTG - upstream_gene_variant PRAD-UK 21 38527650 38527650 single base substitution C A downstream_gene_variant PRAD-UK 21 38527650 38527650 single base substitution C A intron_variant PRAD-UK 21 38527650 38527650 single base substitution C A upstream_gene_variant PRAD-UK 21 38533208 38533208 single base substitution G T intron_variant PRAD-UK 21 38545176 38545176 single base substitution G A intron_variant PRAD-US 21 38460555 38460555 single base substitution G A exon_variant PRAD-US 21 38460555 38460555 single base substitution G A intron_variant PRAD-US 21 38460555 38460555 single base substitution G A missense_variant D83N 247G>A PRAD-US 21 38460555 38460555 single base substitution G A upstream_gene_variant PRAD-US 21 38511002 38511002 single base substitution A C downstream_gene_variant PRAD-US 21 38511002 38511002 single base substitution A C exon_variant PRAD-US 21 38511002 38511002 single base substitution A C synonymous_variant I239I 717A>C PRAD-US 21 38511002 38511002 single base substitution A C synonymous_variant I531I 1593A>C PRAD-US 21 38511002 38511002 single base substitution A C synonymous_variant I549I 1647A>C READ-US 21 38444871 38444871 single base substitution G A upstream_gene_variant READ-US 21 38459664 38459664 single base substitution A C exon_variant READ-US 21 38459664 38459664 single base substitution A C intron_variant READ-US 21 38459664 38459664 single base substitution A C missense_variant D36A 107A>C READ-US 21 38459664 38459664 single base substitution A C upstream_gene_variant READ-US 21 38460555 38460555 single base substitution G A exon_variant READ-US 21 38460555 38460555 single base substitution G A intron_variant READ-US 21 38460555 38460555 single base substitution G A missense_variant D83N 247G>A READ-US 21 38460555 38460555 single base substitution G A upstream_gene_variant READ-US 21 38525452 38525452 single base substitution A T downstream_gene_variant READ-US 21 38525452 38525452 single base substitution A T exon_variant READ-US 21 38525452 38525452 single base substitution A T missense_variant Y235F 704A>T READ-US 21 38525452 38525452 single base substitution A T missense_variant Y562F 1685A>T READ-US 21 38525452 38525452 single base substitution A T missense_variant Y854F 2561A>T READ-US 21 38525452 38525452 single base substitution A T missense_variant Y872F 2615A>T READ-US 21 38525452 38525452 single base substitution A T missense_variant Y9F 26A>T READ-US 21 38525452 38525452 single base substitution A T upstream_gene_variant READ-US 21 38569962 38569962 single base substitution A G exon_variant READ-US 21 38569962 38569962 single base substitution A G missense_variant T182A 544A>G READ-US 21 38569962 38569962 single base substitution A G missense_variant T1891A 5671A>G RECA-EU 21 38463394 38463394 single base substitution A C intron_variant RECA-EU 21 38463394 38463394 single base substitution A C upstream_gene_variant RECA-EU 21 38467322 38467322 single base substitution G A downstream_gene_variant RECA-EU 21 38467322 38467322 single base substitution G A intron_variant RECA-EU 21 38467471 38467471 single base substitution G T downstream_gene_variant RECA-EU 21 38467471 38467471 single base substitution G T intron_variant RECA-EU 21 38471752 38471752 single base substitution G T downstream_gene_variant RECA-EU 21 38471752 38471752 single base substitution G T intron_variant RECA-EU 21 38472570 38472570 single base substitution A T downstream_gene_variant RECA-EU 21 38472570 38472570 single base substitution A T intron_variant RECA-EU 21 38474637 38474637 single base substitution A T downstream_gene_variant RECA-EU 21 38474637 38474637 single base substitution A T intron_variant RECA-EU 21 38478960 38478960 single base substitution G C intron_variant RECA-EU 21 38478960 38478960 single base substitution G C upstream_gene_variant RECA-EU 21 38484077 38484077 single base substitution A T intron_variant RECA-EU 21 38512075 38512075 single base substitution T A downstream_gene_variant RECA-EU 21 38512075 38512075 single base substitution T A intron_variant RECA-EU 21 38512075 38512075 single base substitution T A upstream_gene_variant RECA-EU 21 38522178 38522178 single base substitution G T intron_variant RECA-EU 21 38522178 38522178 single base substitution G T upstream_gene_variant RECA-EU 21 38526587 38526587 single base substitution T C downstream_gene_variant RECA-EU 21 38526587 38526587 single base substitution T C intron_variant RECA-EU 21 38526587 38526587 single base substitution T C upstream_gene_variant RECA-EU 21 38539557 38539557 single base substitution T A downstream_gene_variant RECA-EU 21 38539557 38539557 single base substitution T A intron_variant RECA-EU 21 38540757 38540757 single base substitution T C downstream_gene_variant RECA-EU 21 38540757 38540757 single base substitution T C intron_variant RECA-EU 21 38544897 38544897 single base substitution G A missense_variant G1490R 4468G>A RECA-EU 21 38544897 38544897 single base substitution G A splice_region_variant RECA-EU 21 38548814 38548814 single base substitution T A intron_variant RECA-EU 21 38564709 38564709 single base substitution C T intron_variant RECA-EU 21 38564709 38564709 single base substitution C T upstream_gene_variant RECA-EU 21 38577055 38577055 single base substitution T C downstream_gene_variant SKCA-BR 21 38443674 38443674 single base substitution A G upstream_gene_variant SKCA-BR 21 38445596 38445599 deletion of <=200bp TGGC - 5_prime_UTR_variant SKCA-BR 21 38445596 38445599 deletion of <=200bp TGGC - exon_variant SKCA-BR 21 38448185 38448185 single base substitution C T intron_variant SKCA-BR 21 38451794 38451794 single base substitution C T intron_variant SKCA-BR 21 38451794 38451794 single base substitution C T upstream_gene_variant SKCA-BR 21 38451828 38451828 single base substitution T G intron_variant SKCA-BR 21 38451828 38451828 single base substitution T G upstream_gene_variant SKCA-BR 21 38452622 38452622 single base substitution A G intron_variant SKCA-BR 21 38452622 38452622 single base substitution A G upstream_gene_variant SKCA-BR 21 38453372 38453372 single base substitution T C intron_variant SKCA-BR 21 38453372 38453372 single base substitution T C upstream_gene_variant SKCA-BR 21 38454520 38454520 single base substitution C T 5_prime_UTR_variant SKCA-BR 21 38454520 38454520 single base substitution C T intron_variant SKCA-BR 21 38454520 38454520 single base substitution C T upstream_gene_variant SKCA-BR 21 38457218 38457218 single base substitution G T intron_variant SKCA-BR 21 38457218 38457218 single base substitution G T upstream_gene_variant SKCA-BR 21 38457291 38457291 insertion of <=200bp - TCAAACAAA intron_variant SKCA-BR 21 38457291 38457291 insertion of <=200bp - TCAAACAAA upstream_gene_variant SKCA-BR 21 38462284 38462284 insertion of <=200bp - CA intron_variant SKCA-BR 21 38462284 38462284 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 21 38462730 38462730 single base substitution G A intron_variant SKCA-BR 21 38462730 38462730 single base substitution G A upstream_gene_variant SKCA-BR 21 38463768 38463768 single base substitution A C exon_variant SKCA-BR 21 38463768 38463768 single base substitution A C intron_variant SKCA-BR 21 38463813 38463813 single base substitution T A exon_variant SKCA-BR 21 38463813 38463813 single base substitution T A intron_variant SKCA-BR 21 38463859 38463859 single base substitution C T exon_variant SKCA-BR 21 38463859 38463859 single base substitution C T intron_variant SKCA-BR 21 38469069 38469069 single base substitution G C downstream_gene_variant SKCA-BR 21 38469069 38469069 single base substitution G C exon_variant SKCA-BR 21 38469069 38469069 single base substitution G C intron_variant SKCA-BR 21 38473651 38473651 insertion of <=200bp - TTG downstream_gene_variant SKCA-BR 21 38473651 38473651 insertion of <=200bp - TTG intron_variant SKCA-BR 21 38477330 38477330 single base substitution G A intron_variant SKCA-BR 21 38477330 38477330 single base substitution G A upstream_gene_variant SKCA-BR 21 38482575 38482575 single base substitution G A intron_variant SKCA-BR 21 38485147 38485148 deletion of <=200bp TC - intron_variant SKCA-BR 21 38485178 38485178 single base substitution C T intron_variant SKCA-BR 21 38485965 38485965 single base substitution C T intron_variant SKCA-BR 21 38489352 38489352 insertion of <=200bp - ACTTTC intron_variant SKCA-BR 21 38489822 38489822 single base substitution C A intron_variant SKCA-BR 21 38489823 38489823 single base substitution C G intron_variant SKCA-BR 21 38494717 38494740 deletion of <=200bp ATAATATATATATATATATATTAT - intron_variant SKCA-BR 21 38495849 38495849 single base substitution A G intron_variant SKCA-BR 21 38498341 38498341 single base substitution G T intron_variant SKCA-BR 21 38500502 38500502 single base substitution G C intron_variant SKCA-BR 21 38500506 38500506 single base substitution T C intron_variant SKCA-BR 21 38503330 38503330 single base substitution G A intron_variant SKCA-BR 21 38503331 38503331 single base substitution G A intron_variant SKCA-BR 21 38503378 38503378 single base substitution C T intron_variant SKCA-BR 21 38504378 38504378 single base substitution C T intron_variant SKCA-BR 21 38506868 38506868 single base substitution A G intron_variant SKCA-BR 21 38507572 38507572 single base substitution T C intron_variant SKCA-BR 21 38508786 38508786 single base substitution A C downstream_gene_variant SKCA-BR 21 38508786 38508786 single base substitution A C intron_variant SKCA-BR 21 38515433 38515433 single base substitution C T intron_variant SKCA-BR 21 38515433 38515433 single base substitution C T upstream_gene_variant SKCA-BR 21 38516206 38516206 single base substitution A T intron_variant SKCA-BR 21 38516206 38516206 single base substitution A T upstream_gene_variant SKCA-BR 21 38516508 38516508 single base substitution G A intron_variant SKCA-BR 21 38516508 38516508 single base substitution G A upstream_gene_variant SKCA-BR 21 38516575 38516575 single base substitution C A intron_variant SKCA-BR 21 38516575 38516575 single base substitution C A upstream_gene_variant SKCA-BR 21 38517140 38517140 single base substitution A G intron_variant SKCA-BR 21 38519082 38519082 single base substitution A G intron_variant SKCA-BR 21 38520013 38520013 single base substitution G A intron_variant SKCA-BR 21 38520425 38520425 single base substitution C G intron_variant SKCA-BR 21 38520425 38520425 single base substitution C G upstream_gene_variant SKCA-BR 21 38520795 38520795 single base substitution T A intron_variant SKCA-BR 21 38520795 38520795 single base substitution T A upstream_gene_variant SKCA-BR 21 38528509 38528509 insertion of <=200bp - TTTTG downstream_gene_variant SKCA-BR 21 38528509 38528509 insertion of <=200bp - TTTTG intron_variant SKCA-BR 21 38528509 38528509 insertion of <=200bp - TTTTG upstream_gene_variant SKCA-BR 21 38528597 38528597 single base substitution C T downstream_gene_variant SKCA-BR 21 38528597 38528597 single base substitution C T intron_variant SKCA-BR 21 38528597 38528597 single base substitution C T upstream_gene_variant SKCA-BR 21 38529053 38529053 single base substitution G A downstream_gene_variant SKCA-BR 21 38529053 38529053 single base substitution G A exon_variant SKCA-BR 21 38529053 38529053 single base substitution G A missense_variant G83D 248G>A SKCA-BR 21 38529053 38529053 single base substitution G A missense_variant G928D 2783G>A SKCA-BR 21 38529053 38529053 single base substitution G A missense_variant G946D 2837G>A SKCA-BR 21 38529053 38529053 single base substitution G A upstream_gene_variant SKCA-BR 21 38529922 38529922 single base substitution G T downstream_gene_variant SKCA-BR 21 38529922 38529922 single base substitution G T intron_variant SKCA-BR 21 38529922 38529922 single base substitution G T upstream_gene_variant SKCA-BR 21 38535263 38535263 single base substitution C T intron_variant SKCA-BR 21 38535271 38535271 single base substitution G A intron_variant SKCA-BR 21 38535272 38535272 single base substitution G A intron_variant SKCA-BR 21 38539483 38539483 insertion of <=200bp - GAC downstream_gene_variant SKCA-BR 21 38539483 38539483 insertion of <=200bp - GAC intron_variant SKCA-BR 21 38540402 38540402 single base substitution T G downstream_gene_variant SKCA-BR 21 38540402 38540402 single base substitution T G intron_variant SKCA-BR 21 38542628 38542628 single base substitution A T downstream_gene_variant SKCA-BR 21 38542628 38542628 single base substitution A T intron_variant SKCA-BR 21 38554511 38554511 single base substitution G A intron_variant SKCA-BR 21 38568308 38568308 single base substitution C T exon_variant SKCA-BR 21 38568308 38568308 single base substitution C T synonymous_variant H141H 423C>T SKCA-BR 21 38568308 38568308 single base substitution C T synonymous_variant H1850H 5550C>T SKCA-BR 21 38568537 38568538 deletion of <=200bp TC - intron_variant SKCA-BR 21 38568538 38568539 deletion of <=200bp CT - intron_variant SKCA-BR 21 38570854 38570854 single base substitution T C downstream_gene_variant SKCA-BR 21 38570854 38570854 single base substitution T C intron_variant SKCA-BR 21 38574213 38574226 deletion of <=200bp GCCCCACGTTTGTT - 3_prime_UTR_variant SKCA-BR 21 38574213 38574226 deletion of <=200bp GCCCCACGTTTGTT - downstream_gene_variant SKCA-BR 21 38574213 38574226 deletion of <=200bp GCCCCACGTTTGTT - exon_variant SKCA-BR 21 38577509 38577509 single base substitution T G downstream_gene_variant SKCA-BR 21 38577573 38577573 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 21 38577681 38577681 single base substitution C T downstream_gene_variant SKCA-BR 21 38577797 38577797 single base substitution C T downstream_gene_variant SKCA-BR 21 38577817 38577817 single base substitution T C downstream_gene_variant SKCA-BR 21 38578562 38578564 deletion of <=200bp GGT - downstream_gene_variant SKCM-US 21 38462568 38462568 single base substitution T C exon_variant SKCM-US 21 38462568 38462568 single base substitution T C intron_variant SKCM-US 21 38462568 38462568 single base substitution T C synonymous_variant I154I 462T>C SKCM-US 21 38462568 38462568 single base substitution T C upstream_gene_variant SKCM-US 21 38467671 38467671 single base substitution A T downstream_gene_variant SKCM-US 21 38467671 38467671 single base substitution A T exon_variant SKCM-US 21 38467671 38467671 single base substitution A T intron_variant SKCM-US 21 38467671 38467671 single base substitution A T stop_gained K219* 655A>T SKCM-US 21 38467671 38467671 single base substitution A T stop_gained K237* 709A>T SKCM-US 21 38507810 38507810 single base substitution T A downstream_gene_variant SKCM-US 21 38507810 38507810 single base substitution T A exon_variant SKCM-US 21 38507810 38507810 single base substitution T A missense_variant I215K 644T>A SKCM-US 21 38507810 38507810 single base substitution T A missense_variant I507K 1520T>A SKCM-US 21 38507810 38507810 single base substitution T A missense_variant I525K 1574T>A SKCM-US 21 38511016 38511016 single base substitution T C downstream_gene_variant SKCM-US 21 38511016 38511016 single base substitution T C splice_donor_variant SKCM-US 21 38512909 38512909 single base substitution C T exon_variant SKCM-US 21 38512909 38512909 single base substitution C T missense_variant P260S 778C>T SKCM-US 21 38512909 38512909 single base substitution C T missense_variant P552S 1654C>T SKCM-US 21 38512909 38512909 single base substitution C T missense_variant P570S 1708C>T SKCM-US 21 38512909 38512909 single base substitution C T upstream_gene_variant SKCM-US 21 38516844 38516844 single base substitution C T exon_variant SKCM-US 21 38516844 38516844 single base substitution C T missense_variant H288Y 862C>T SKCM-US 21 38516844 38516844 single base substitution C T missense_variant H580Y 1738C>T SKCM-US 21 38516844 38516844 single base substitution C T missense_variant H598Y 1792C>T SKCM-US 21 38516844 38516844 single base substitution C T upstream_gene_variant SKCM-US 21 38516888 38516888 single base substitution G C exon_variant SKCM-US 21 38516888 38516888 single base substitution G C synonymous_variant V302V 906G>C SKCM-US 21 38516888 38516888 single base substitution G C synonymous_variant V594V 1782G>C SKCM-US 21 38516888 38516888 single base substitution G C synonymous_variant V612V 1836G>C SKCM-US 21 38516888 38516888 single base substitution G C synonymous_variant V9V 27G>C SKCM-US 21 38524310 38524310 single base substitution C T downstream_gene_variant SKCM-US 21 38524310 38524310 single base substitution C T exon_variant SKCM-US 21 38524310 38524310 single base substitution C T synonymous_variant P161P 483C>T SKCM-US 21 38524310 38524310 single base substitution C T synonymous_variant P488P 1464C>T SKCM-US 21 38524310 38524310 single base substitution C T synonymous_variant P780P 2340C>T SKCM-US 21 38524310 38524310 single base substitution C T synonymous_variant P798P 2394C>T SKCM-US 21 38524310 38524310 single base substitution C T upstream_gene_variant SKCM-US 21 38524315 38524315 single base substitution A T downstream_gene_variant SKCM-US 21 38524315 38524315 single base substitution A T exon_variant SKCM-US 21 38524315 38524315 single base substitution A T missense_variant N163I 488A>T SKCM-US 21 38524315 38524315 single base substitution A T missense_variant N490I 1469A>T SKCM-US 21 38524315 38524315 single base substitution A T missense_variant N782I 2345A>T SKCM-US 21 38524315 38524315 single base substitution A T missense_variant N800I 2399A>T SKCM-US 21 38524315 38524315 single base substitution A T upstream_gene_variant SKCM-US 21 38525296 38525296 single base substitution T G downstream_gene_variant SKCM-US 21 38525296 38525296 single base substitution T G exon_variant SKCM-US 21 38525296 38525296 single base substitution T G missense_variant I183S 548T>G SKCM-US 21 38525296 38525296 single base substitution T G missense_variant I510S 1529T>G SKCM-US 21 38525296 38525296 single base substitution T G missense_variant I802S 2405T>G SKCM-US 21 38525296 38525296 single base substitution T G missense_variant I820S 2459T>G SKCM-US 21 38525296 38525296 single base substitution T G upstream_gene_variant SKCM-US 21 38525359 38525359 single base substitution T G downstream_gene_variant SKCM-US 21 38525359 38525359 single base substitution T G exon_variant SKCM-US 21 38525359 38525359 single base substitution T G missense_variant L204R 611T>G SKCM-US 21 38525359 38525359 single base substitution T G missense_variant L531R 1592T>G SKCM-US 21 38525359 38525359 single base substitution T G missense_variant L823R 2468T>G SKCM-US 21 38525359 38525359 single base substitution T G missense_variant L841R 2522T>G SKCM-US 21 38525359 38525359 single base substitution T G upstream_gene_variant SKCM-US 21 38525433 38525433 single base substitution C T downstream_gene_variant SKCM-US 21 38525433 38525433 single base substitution C T exon_variant SKCM-US 21 38525433 38525433 single base substitution C T synonymous_variant L229L 685C>T SKCM-US 21 38525433 38525433 single base substitution C T synonymous_variant L3L 7C>T SKCM-US 21 38525433 38525433 single base substitution C T synonymous_variant L556L 1666C>T SKCM-US 21 38525433 38525433 single base substitution C T synonymous_variant L848L 2542C>T SKCM-US 21 38525433 38525433 single base substitution C T synonymous_variant L866L 2596C>T SKCM-US 21 38525433 38525433 single base substitution C T upstream_gene_variant SKCM-US 21 38525529 38525529 single base substitution G A downstream_gene_variant SKCM-US 21 38525529 38525529 single base substitution G A exon_variant SKCM-US 21 38525529 38525529 single base substitution G A missense_variant E261K 781G>A SKCM-US 21 38525529 38525529 single base substitution G A missense_variant E35K 103G>A SKCM-US 21 38525529 38525529 single base substitution G A missense_variant E588K 1762G>A SKCM-US 21 38525529 38525529 single base substitution G A missense_variant E880K 2638G>A SKCM-US 21 38525529 38525529 single base substitution G A missense_variant E898K 2692G>A SKCM-US 21 38525529 38525529 single base substitution G A upstream_gene_variant SKCM-US 21 38525559 38525559 single base substitution C T downstream_gene_variant SKCM-US 21 38525559 38525559 single base substitution C T exon_variant SKCM-US 21 38525559 38525559 single base substitution C T stop_gained Q271* 811C>T SKCM-US 21 38525559 38525559 single base substitution C T stop_gained Q45* 133C>T SKCM-US 21 38525559 38525559 single base substitution C T stop_gained Q598* 1792C>T SKCM-US 21 38525559 38525559 single base substitution C T stop_gained Q890* 2668C>T SKCM-US 21 38525559 38525559 single base substitution C T stop_gained Q908* 2722C>T SKCM-US 21 38525559 38525559 single base substitution C T upstream_gene_variant SKCM-US 21 38529064 38529064 single base substitution G A downstream_gene_variant SKCM-US 21 38529064 38529064 single base substitution G A exon_variant SKCM-US 21 38529064 38529064 single base substitution G A missense_variant D87N 259G>A SKCM-US 21 38529064 38529064 single base substitution G A missense_variant D932N 2794G>A SKCM-US 21 38529064 38529064 single base substitution G A missense_variant D950N 2848G>A SKCM-US 21 38529064 38529064 single base substitution G A upstream_gene_variant SKCM-US 21 38534350 38534350 single base substitution C T exon_variant SKCM-US 21 38534350 38534350 single base substitution C T missense_variant S1034L 3101C>T SKCM-US 21 38534350 38534350 single base substitution C T missense_variant S1052L 3155C>T SKCM-US 21 38534350 38534350 single base substitution C T missense_variant S207L 620C>T SKCM-US 21 38537884 38537884 single base substitution C T exon_variant SKCM-US 21 38537884 38537884 single base substitution C T missense_variant P1105L 3314C>T SKCM-US 21 38537884 38537884 single base substitution C T missense_variant P1123L 3368C>T SKCM-US 21 38537884 38537884 single base substitution C T missense_variant P278L 833C>T SKCM-US 21 38538282 38538282 single base substitution C T downstream_gene_variant SKCM-US 21 38538282 38538282 single base substitution C T exon_variant SKCM-US 21 38538282 38538282 single base substitution C T missense_variant P1256S 3766C>T SKCM-US 21 38538329 38538329 single base substitution C T downstream_gene_variant SKCM-US 21 38538329 38538329 single base substitution C T exon_variant SKCM-US 21 38538329 38538329 single base substitution C T synonymous_variant P1271P 3813C>T SKCM-US 21 38538400 38538400 single base substitution C T downstream_gene_variant SKCM-US 21 38538400 38538400 single base substitution C T exon_variant SKCM-US 21 38538400 38538400 single base substitution C T missense_variant S1295F 3884C>T SKCM-US 21 38538480 38538480 single base substitution C T downstream_gene_variant SKCM-US 21 38538480 38538480 single base substitution C T exon_variant SKCM-US 21 38538480 38538480 single base substitution C T missense_variant P1322S 3964C>T SKCM-US 21 38538831 38538831 single base substitution G A downstream_gene_variant SKCM-US 21 38538831 38538831 single base substitution G A exon_variant SKCM-US 21 38538831 38538831 single base substitution G A missense_variant G1439R 4315G>A SKCM-US 21 38539913 38539913 single base substitution G A downstream_gene_variant SKCM-US 21 38539913 38539913 single base substitution G A exon_variant SKCM-US 21 38539913 38539913 single base substitution G A synonymous_variant E1486E 4458G>A SKCM-US 21 38555196 38555196 single base substitution G C exon_variant SKCM-US 21 38555196 38555196 single base substitution G C missense_variant V1580L 4738G>C SKCM-US 21 38558073 38558073 single base substitution C T exon_variant SKCM-US 21 38558073 38558073 single base substitution C T splice_region_variant SKCM-US 21 38568232 38568232 single base substitution A T exon_variant SKCM-US 21 38568232 38568232 single base substitution A T missense_variant K116M 347A>T SKCM-US 21 38568232 38568232 single base substitution A T missense_variant K1825M 5474A>T SKCM-US 21 38568323 38568323 single base substitution C T exon_variant SKCM-US 21 38568323 38568323 single base substitution C T synonymous_variant F146F 438C>T SKCM-US 21 38568323 38568323 single base substitution C T synonymous_variant F1855F 5565C>T SKCM-US 21 38568329 38568329 single base substitution T G exon_variant SKCM-US 21 38568329 38568329 single base substitution T G missense_variant C148W 444T>G SKCM-US 21 38568329 38568329 single base substitution T G missense_variant C1857W 5571T>G SKCM-US 21 38569994 38569994 single base substitution A G exon_variant SKCM-US 21 38569994 38569994 single base substitution A G synonymous_variant K1901K 5703A>G SKCM-US 21 38569994 38569994 single base substitution A G synonymous_variant K192K 576A>G SKCM-US 21 38572549 38572549 single base substitution C T downstream_gene_variant SKCM-US 21 38572549 38572549 single base substitution C T exon_variant SKCM-US 21 38572549 38572549 single base substitution C T missense_variant S1956F 5867C>T SKCM-US 21 38572549 38572549 single base substitution C T missense_variant S247F 740C>T STAD-US 21 38444815 38444815 deletion of <=200bp T - upstream_gene_variant STAD-US 21 38460521 38460521 single base substitution T C exon_variant STAD-US 21 38460521 38460521 single base substitution T C intron_variant STAD-US 21 38460521 38460521 single base substitution T C synonymous_variant C71C 213T>C STAD-US 21 38460521 38460521 single base substitution T C upstream_gene_variant STAD-US 21 38494156 38494156 single base substitution G A exon_variant STAD-US 21 38494156 38494156 single base substitution G A intron_variant STAD-US 21 38494156 38494156 single base substitution G A missense_variant E296K 886G>A STAD-US 21 38494156 38494156 single base substitution G A missense_variant E314K 940G>A STAD-US 21 38494156 38494156 single base substitution G A missense_variant E4K 10G>A STAD-US 21 38494204 38494204 deletion of <=200bp A - exon_variant STAD-US 21 38494204 38494204 deletion of <=200bp A - frameshift_variant K20 STAD-US 21 38494204 38494204 deletion of <=200bp A - frameshift_variant K312 STAD-US 21 38494204 38494204 deletion of <=200bp A - frameshift_variant K330 STAD-US 21 38494204 38494204 deletion of <=200bp A - intron_variant STAD-US 21 38497038 38497038 single base substitution T C exon_variant STAD-US 21 38497038 38497038 single base substitution T C missense_variant L100P 299T>C STAD-US 21 38497038 38497038 single base substitution T C missense_variant L392P 1175T>C STAD-US 21 38497038 38497038 single base substitution T C missense_variant L410P 1229T>C STAD-US 21 38498385 38498385 single base substitution G A exon_variant STAD-US 21 38498385 38498385 single base substitution G A synonymous_variant A103A 309G>A STAD-US 21 38498385 38498385 single base substitution G A synonymous_variant A395A 1185G>A STAD-US 21 38498385 38498385 single base substitution G A synonymous_variant A413A 1239G>A STAD-US 21 38501357 38501357 single base substitution A C exon_variant STAD-US 21 38501357 38501357 single base substitution A C missense_variant K141T 422A>C STAD-US 21 38501357 38501357 single base substitution A C missense_variant K433T 1298A>C STAD-US 21 38501357 38501357 single base substitution A C missense_variant K451T 1352A>C STAD-US 21 38510956 38510956 single base substitution A T downstream_gene_variant STAD-US 21 38510956 38510956 single base substitution A T exon_variant STAD-US 21 38510956 38510956 single base substitution A T missense_variant N224I 671A>T STAD-US 21 38510956 38510956 single base substitution A T missense_variant N516I 1547A>T STAD-US 21 38510956 38510956 single base substitution A T missense_variant N534I 1601A>T STAD-US 21 38512963 38512963 deletion of <=200bp A - exon_variant STAD-US 21 38512963 38512963 deletion of <=200bp A - frameshift_variant K278 STAD-US 21 38512963 38512963 deletion of <=200bp A - frameshift_variant K570 STAD-US 21 38512963 38512963 deletion of <=200bp A - frameshift_variant K588 STAD-US 21 38512963 38512963 deletion of <=200bp A - upstream_gene_variant STAD-US 21 38512963 38512963 insertion of <=200bp - A exon_variant STAD-US 21 38512963 38512963 insertion of <=200bp - A frameshift_variant K278K? STAD-US 21 38512963 38512963 insertion of <=200bp - A frameshift_variant K570K? STAD-US 21 38512963 38512963 insertion of <=200bp - A frameshift_variant K588K? STAD-US 21 38512963 38512963 insertion of <=200bp - A upstream_gene_variant STAD-US 21 38516874 38516874 single base substitution C T exon_variant STAD-US 21 38516874 38516874 single base substitution C T missense_variant R298C 892C>T STAD-US 21 38516874 38516874 single base substitution C T missense_variant R590C 1768C>T STAD-US 21 38516874 38516874 single base substitution C T missense_variant R5C 13C>T STAD-US 21 38516874 38516874 single base substitution C T missense_variant R608C 1822C>T STAD-US 21 38529006 38529006 single base substitution A C downstream_gene_variant STAD-US 21 38529006 38529006 single base substitution A C exon_variant STAD-US 21 38529006 38529006 single base substitution A C missense_variant K67N 201A>C STAD-US 21 38529006 38529006 single base substitution A C missense_variant K912N 2736A>C STAD-US 21 38529006 38529006 single base substitution A C missense_variant K930N 2790A>C STAD-US 21 38529006 38529006 single base substitution A C upstream_gene_variant STAD-US 21 38529049 38529049 single base substitution T C downstream_gene_variant STAD-US 21 38529049 38529049 single base substitution T C exon_variant STAD-US 21 38529049 38529049 single base substitution T C missense_variant Y82H 244T>C STAD-US 21 38529049 38529049 single base substitution T C missense_variant Y927H 2779T>C STAD-US 21 38529049 38529049 single base substitution T C missense_variant Y945H 2833T>C STAD-US 21 38529049 38529049 single base substitution T C upstream_gene_variant STAD-US 21 38529174 38529174 single base substitution G A downstream_gene_variant STAD-US 21 38529174 38529174 single base substitution G A exon_variant STAD-US 21 38529174 38529174 single base substitution G A synonymous_variant L123L 369G>A STAD-US 21 38529174 38529174 single base substitution G A synonymous_variant L968L 2904G>A STAD-US 21 38529174 38529174 single base substitution G A synonymous_variant L986L 2958G>A STAD-US 21 38529174 38529174 single base substitution G A upstream_gene_variant STAD-US 21 38538093 38538093 single base substitution G C downstream_gene_variant STAD-US 21 38538093 38538093 single base substitution G C exon_variant STAD-US 21 38538093 38538093 single base substitution G C missense_variant E1193Q 3577G>C STAD-US 21 38538528 38538528 single base substitution G A downstream_gene_variant STAD-US 21 38538528 38538528 single base substitution G A exon_variant STAD-US 21 38538528 38538528 single base substitution G A missense_variant V1338M 4012G>A STAD-US 21 38538593 38538593 single base substitution T C downstream_gene_variant STAD-US 21 38538593 38538593 single base substitution T C exon_variant STAD-US 21 38538593 38538593 single base substitution T C synonymous_variant Y1359Y 4077T>C STAD-US 21 38538826 38538826 single base substitution A G downstream_gene_variant STAD-US 21 38538826 38538826 single base substitution A G exon_variant STAD-US 21 38538826 38538826 single base substitution A G missense_variant H1437R 4310A>G STAD-US 21 38538886 38538886 single base substitution A G downstream_gene_variant STAD-US 21 38538886 38538886 single base substitution A G exon_variant STAD-US 21 38538886 38538886 single base substitution A G missense_variant N1457S 4370A>G STAD-US 21 38555103 38555103 single base substitution C T exon_variant STAD-US 21 38555103 38555103 single base substitution C T missense_variant L1549F 4645C>T STAD-US 21 38555143 38555144 deletion of <=200bp AA - exon_variant STAD-US 21 38555143 38555144 deletion of <=200bp AA - frameshift_variant E1562 STAD-US 21 38559387 38559387 single base substitution T C downstream_gene_variant STAD-US 21 38559387 38559387 single base substitution T C exon_variant STAD-US 21 38559387 38559387 single base substitution T C missense_variant Y1622H 4864T>C STAD-US 21 38559387 38559387 single base substitution T C upstream_gene_variant STAD-US 21 38570308 38570308 single base substitution A T downstream_gene_variant STAD-US 21 38570308 38570308 single base substitution A T exon_variant STAD-US 21 38570308 38570308 single base substitution A T missense_variant E1944D 5832A>T STAD-US 21 38570308 38570308 single base substitution A T missense_variant E235D 705A>T STAD-US 21 38572580 38572580 deletion of <=200bp A - downstream_gene_variant STAD-US 21 38572580 38572580 deletion of <=200bp A - exon_variant STAD-US 21 38572580 38572580 deletion of <=200bp A - frameshift_variant S1966 STAD-US 21 38572580 38572580 deletion of <=200bp A - frameshift_variant S257 THCA-SA 21 38445095 38445095 single base substitution G A upstream_gene_variant THCA-SA 21 38498381 38498381 single base substitution T G missense_variant V102G 305T>G THCA-SA 21 38498381 38498381 single base substitution T G missense_variant V394G 1181T>G THCA-SA 21 38498381 38498381 single base substitution T G missense_variant V412G 1235T>G THCA-SA 21 38498381 38498381 single base substitution T G splice_region_variant THCA-US 21 38536445 38536445 single base substitution G A exon_variant THCA-US 21 38536445 38536445 single base substitution G A missense_variant S1070N 3209G>A THCA-US 21 38536445 38536445 single base substitution G A missense_variant S1088N 3263G>A THCA-US 21 38536445 38536445 single base substitution G A missense_variant S243N 728G>A THCA-US 21 38558091 38558091 single base substitution A G exon_variant THCA-US 21 38558091 38558091 single base substitution A G intron_variant UCEC-US 21 38460138 38460138 single base substitution G A exon_variant UCEC-US 21 38460138 38460138 single base substitution G A intron_variant UCEC-US 21 38460138 38460138 single base substitution G A synonymous_variant V50V 150G>A UCEC-US 21 38460138 38460138 single base substitution G A upstream_gene_variant UCEC-US 21 38461124 38461124 single base substitution T C exon_variant UCEC-US 21 38461124 38461124 single base substitution T C intron_variant UCEC-US 21 38461124 38461124 single base substitution T C synonymous_variant L122L 364T>C UCEC-US 21 38461124 38461124 single base substitution T C upstream_gene_variant UCEC-US 21 38463679 38463679 single base substitution T C exon_variant UCEC-US 21 38463679 38463679 single base substitution T C intron_variant UCEC-US 21 38463679 38463679 single base substitution T C synonymous_variant N171N 513T>C UCEC-US 21 38463679 38463679 single base substitution T C synonymous_variant N189N 567T>C UCEC-US 21 38463679 38463679 single base substitution T C upstream_gene_variant UCEC-US 21 38467695 38467695 single base substitution G T downstream_gene_variant UCEC-US 21 38467695 38467695 single base substitution G T exon_variant UCEC-US 21 38467695 38467695 single base substitution G T intron_variant UCEC-US 21 38467695 38467695 single base substitution G T stop_gained E227* 679G>T UCEC-US 21 38467695 38467695 single base substitution G T stop_gained E245* 733G>T UCEC-US 21 38467732 38467732 single base substitution C T downstream_gene_variant UCEC-US 21 38467732 38467732 single base substitution C T exon_variant UCEC-US 21 38467732 38467732 single base substitution C T intron_variant UCEC-US 21 38467732 38467732 single base substitution C T missense_variant A239V 716C>T UCEC-US 21 38467732 38467732 single base substitution C T missense_variant A257V 770C>T UCEC-US 21 38467744 38467744 single base substitution G T downstream_gene_variant UCEC-US 21 38467744 38467744 single base substitution G T exon_variant UCEC-US 21 38467744 38467744 single base substitution G T intron_variant UCEC-US 21 38467744 38467744 single base substitution G T missense_variant R243I 728G>T UCEC-US 21 38467744 38467744 single base substitution G T missense_variant R261I 782G>T UCEC-US 21 38467744 38467744 single base substitution G T splice_region_variant UCEC-US 21 38494133 38494133 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 21 38494133 38494133 single base substitution G A exon_variant UCEC-US 21 38494133 38494133 single base substitution G A intron_variant UCEC-US 21 38494133 38494133 single base substitution G A missense_variant C288Y 863G>A UCEC-US 21 38494133 38494133 single base substitution G A missense_variant C306Y 917G>A UCEC-US 21 38495286 38495286 single base substitution G A exon_variant UCEC-US 21 38495286 38495286 single base substitution G A missense_variant R338Q 1013G>A UCEC-US 21 38495286 38495286 single base substitution G A missense_variant R356Q 1067G>A UCEC-US 21 38495286 38495286 single base substitution G A missense_variant R46Q 137G>A UCEC-US 21 38498384 38498384 single base substitution C T exon_variant UCEC-US 21 38498384 38498384 single base substitution C T missense_variant A103V 308C>T UCEC-US 21 38498384 38498384 single base substitution C T missense_variant A395V 1184C>T UCEC-US 21 38498384 38498384 single base substitution C T missense_variant A413V 1238C>T UCEC-US 21 38505030 38505030 single base substitution G T exon_variant UCEC-US 21 38505030 38505030 single base substitution G T missense_variant E159D 477G>T UCEC-US 21 38505030 38505030 single base substitution G T missense_variant E451D 1353G>T UCEC-US 21 38505030 38505030 single base substitution G T missense_variant E469D 1407G>T UCEC-US 21 38507760 38507760 single base substitution C T downstream_gene_variant UCEC-US 21 38507760 38507760 single base substitution C T exon_variant UCEC-US 21 38507760 38507760 single base substitution C T synonymous_variant S198S 594C>T UCEC-US 21 38507760 38507760 single base substitution C T synonymous_variant S490S 1470C>T UCEC-US 21 38507760 38507760 single base substitution C T synonymous_variant S508S 1524C>T UCEC-US 21 38507790 38507790 single base substitution C T downstream_gene_variant UCEC-US 21 38507790 38507790 single base substitution C T exon_variant UCEC-US 21 38507790 38507790 single base substitution C T synonymous_variant N208N 624C>T UCEC-US 21 38507790 38507790 single base substitution C T synonymous_variant N500N 1500C>T UCEC-US 21 38507790 38507790 single base substitution C T synonymous_variant N518N 1554C>T UCEC-US 21 38519805 38519805 single base substitution G T exon_variant UCEC-US 21 38519805 38519805 single base substitution G T stop_gained E330* 988G>T UCEC-US 21 38519805 38519805 single base substitution G T stop_gained E37* 109G>T UCEC-US 21 38519805 38519805 single base substitution G T stop_gained E622* 1864G>T UCEC-US 21 38519805 38519805 single base substitution G T stop_gained E640* 1918G>T UCEC-US 21 38519889 38519889 single base substitution G T exon_variant UCEC-US 21 38519889 38519889 single base substitution G T missense_variant D358Y 1072G>T UCEC-US 21 38519889 38519889 single base substitution G T missense_variant D650Y 1948G>T UCEC-US 21 38519889 38519889 single base substitution G T missense_variant D65Y 193G>T UCEC-US 21 38519889 38519889 single base substitution G T missense_variant D668Y 2002G>T UCEC-US 21 38525300 38525300 single base substitution A G downstream_gene_variant UCEC-US 21 38525300 38525300 single base substitution A G exon_variant UCEC-US 21 38525300 38525300 single base substitution A G synonymous_variant L184L 552A>G UCEC-US 21 38525300 38525300 single base substitution A G synonymous_variant L511L 1533A>G UCEC-US 21 38525300 38525300 single base substitution A G synonymous_variant L803L 2409A>G UCEC-US 21 38525300 38525300 single base substitution A G synonymous_variant L821L 2463A>G UCEC-US 21 38525300 38525300 single base substitution A G upstream_gene_variant UCEC-US 21 38525425 38525425 single base substitution G T 5_prime_UTR_variant UCEC-US 21 38525425 38525425 single base substitution G T downstream_gene_variant UCEC-US 21 38525425 38525425 single base substitution G T exon_variant UCEC-US 21 38525425 38525425 single base substitution G T missense_variant R226I 677G>T UCEC-US 21 38525425 38525425 single base substitution G T missense_variant R553I 1658G>T UCEC-US 21 38525425 38525425 single base substitution G T missense_variant R845I 2534G>T UCEC-US 21 38525425 38525425 single base substitution G T missense_variant R863I 2588G>T UCEC-US 21 38525425 38525425 single base substitution G T upstream_gene_variant UCEC-US 21 38529138 38529138 single base substitution G A downstream_gene_variant UCEC-US 21 38529138 38529138 single base substitution G A exon_variant UCEC-US 21 38529138 38529138 single base substitution G A stop_gained W111* 333G>A UCEC-US 21 38529138 38529138 single base substitution G A stop_gained W956* 2868G>A UCEC-US 21 38529138 38529138 single base substitution G A stop_gained W974* 2922G>A UCEC-US 21 38529138 38529138 single base substitution G A upstream_gene_variant UCEC-US 21 38529195 38529195 single base substitution C G downstream_gene_variant UCEC-US 21 38529195 38529195 single base substitution C G exon_variant UCEC-US 21 38529195 38529195 single base substitution C G missense_variant F130L 390C>G UCEC-US 21 38529195 38529195 single base substitution C G missense_variant F975L 2925C>G UCEC-US 21 38529195 38529195 single base substitution C G missense_variant F993L 2979C>G UCEC-US 21 38529195 38529195 single base substitution C G upstream_gene_variant UCEC-US 21 38534366 38534366 single base substitution G T splice_donor_variant UCEC-US 21 38536423 38536423 single base substitution G A exon_variant UCEC-US 21 38536423 38536423 single base substitution G A missense_variant E1063K 3187G>A UCEC-US 21 38536423 38536423 single base substitution G A missense_variant E1081K 3241G>A UCEC-US 21 38536423 38536423 single base substitution G A missense_variant E236K 706G>A UCEC-US 21 38536450 38536450 single base substitution G A exon_variant UCEC-US 21 38536450 38536450 single base substitution G A missense_variant E1072K 3214G>A UCEC-US 21 38536450 38536450 single base substitution G A missense_variant E1090K 3268G>A UCEC-US 21 38536450 38536450 single base substitution G A missense_variant E245K 733G>A UCEC-US 21 38537934 38537934 single base substitution G T exon_variant UCEC-US 21 38537934 38537934 single base substitution G T stop_gained E1122* 3364G>T UCEC-US 21 38537934 38537934 single base substitution G T stop_gained E1140* 3418G>T UCEC-US 21 38537934 38537934 single base substitution G T stop_gained E295* 883G>T UCEC-US 21 38537997 38537997 single base substitution C T downstream_gene_variant UCEC-US 21 38537997 38537997 single base substitution C T exon_variant UCEC-US 21 38537997 38537997 single base substitution C T missense_variant R1143C 3427C>T UCEC-US 21 38537997 38537997 single base substitution C T missense_variant R1161C 3481C>T UCEC-US 21 38538098 38538098 single base substitution T G downstream_gene_variant UCEC-US 21 38538098 38538098 single base substitution T G exon_variant UCEC-US 21 38538098 38538098 single base substitution T G missense_variant I1194M 3582T>G UCEC-US 21 38538117 38538117 single base substitution G A downstream_gene_variant UCEC-US 21 38538117 38538117 single base substitution G A exon_variant UCEC-US 21 38538117 38538117 single base substitution G A missense_variant V1201I 3601G>A UCEC-US 21 38538120 38538120 single base substitution C T downstream_gene_variant UCEC-US 21 38538120 38538120 single base substitution C T exon_variant UCEC-US 21 38538120 38538120 single base substitution C T stop_gained R1202* 3604C>T UCEC-US 21 38538153 38538153 single base substitution G A downstream_gene_variant UCEC-US 21 38538153 38538153 single base substitution G A exon_variant UCEC-US 21 38538153 38538153 single base substitution G A missense_variant E1213K 3637G>A UCEC-US 21 38538230 38538230 single base substitution A G downstream_gene_variant UCEC-US 21 38538230 38538230 single base substitution A G exon_variant UCEC-US 21 38538230 38538230 single base substitution A G synonymous_variant K1238K 3714A>G UCEC-US 21 38538285 38538285 single base substitution G A downstream_gene_variant UCEC-US 21 38538285 38538285 single base substitution G A exon_variant UCEC-US 21 38538285 38538285 single base substitution G A missense_variant V1257I 3769G>A UCEC-US 21 38538385 38538385 single base substitution G A downstream_gene_variant UCEC-US 21 38538385 38538385 single base substitution G A exon_variant UCEC-US 21 38538385 38538385 single base substitution G A missense_variant R1290Q 3869G>A UCEC-US 21 38539917 38539917 single base substitution C T downstream_gene_variant UCEC-US 21 38539917 38539917 single base substitution C T exon_variant UCEC-US 21 38539917 38539917 single base substitution C T stop_gained R1488* 4462C>T UCEC-US 21 38544951 38544951 single base substitution G A exon_variant UCEC-US 21 38544951 38544951 single base substitution G A missense_variant E1508K 4522G>A UCEC-US 21 38545016 38545016 single base substitution G T exon_variant UCEC-US 21 38545016 38545016 single base substitution G T missense_variant E1529D 4587G>T UCEC-US 21 38564453 38564453 single base substitution C A exon_variant UCEC-US 21 38564453 38564453 single base substitution C A intron_variant UCEC-US 21 38564453 38564453 single base substitution C A missense_variant S1719Y 5156C>A UCEC-US 21 38564453 38564453 single base substitution C A upstream_gene_variant UCEC-US 21 38572566 38572566 single base substitution G A downstream_gene_variant UCEC-US 21 38572566 38572566 single base substitution G A exon_variant UCEC-US 21 38572566 38572566 single base substitution G A missense_variant E1962K 5884G>A UCEC-US 21 38572566 38572566 single base substitution G A missense_variant E253K 757G>A UCEC-US 21 38573792 38573792 single base substitution C T downstream_gene_variant UCEC-US 21 38573792 38573792 single base substitution C T exon_variant UCEC-US 21 38573792 38573792 single base substitution C T missense_variant R1999C 5995C>T UCEC-US 21 38573792 38573792 single base substitution C T missense_variant R290C 868C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-CA-6717-01 COSM1030566 c.733G>T p.E245* Substitution - Nonsense 21:37095395-37095395 + TCGA-AG-3892-01 COSM258266 c.5136T>G p.I1712M Substitution - Missense 21:37192132-37192132 + 5853_CLM COSM5755670 c.1969C>T p.H657Y Substitution - Missense 21:37147556-37147556 + 2T COSM3733770 c.5981C>T p.P1994L Substitution - Missense 21:37201477-37201477 + KM12 COSM2844837 c.1526C>T p.A509V Substitution - Missense 21:37135462-37135462 + 5853_CLM COSM5755672 c.1970A>G p.H657R Substitution - Missense 21:37147557-37147557 + 61 COSM5741983 c.2908C>T p.R970C Substitution - Missense 21:37156822-37156822 + SNU-C2B COSM1030563 c.246C>T p.C82C Substitution - coding silent 21:37088254-37088254 + TCGA-C8-A26Y-01 COSM3841891 c.3797C>G p.S1266C Substitution - Missense 21:37166011-37166011 + OSCC-GB_00810111 COSM4891353 c.995A>T p.D332V Substitution - Missense 21:37121911-37121911 + TCGA-60-2722-01 COSM725189 c.63T>A p.P21P Substitution - coding silent 21:37087320-37087320 + TCGA-FS-A4F0-06 COSM3550599 c.2722C>T p.Q908* Substitution - Nonsense 21:37153259-37153259 + 1N31-VS-1T31 COSM4974367 c.2335G>A p.E779K Substitution - Missense 21:37151951-37151951 + B89-3-Tumor COSM3933954 c.5115G>A p.K1705K Substitution - coding silent 21:37191424-37191424 + TCGA-A6-6653-01 COSM1030563 c.246C>T p.C82C Substitution - coding silent 21:37088254-37088254 + TCGA-AK-3429-01 COSM478571 c.1514G>A p.R505H Substitution - Missense 21:37135450-37135450 + TCGA-AA-3713-01 COSM1414037 c.4684_4685insA p.E1565fs*14 Insertion - Frameshift 21:37182840-37182841 + SNUH_G76_S1 COSM4419049 c.3171-5A>G p.? Unknown 21:37164046-37164046 + Pat_41_B COSM5858600 c.2544G>A p.W848* Substitution - Nonsense 21:37153081-37153081 + TCGA-04-1349-01 COSM76851 c.1192A>G p.I398V Substitution - Missense 21:37124701-37124701 + TCGA-FU-A3HY-01 COSM1030581 c.2979C>G p.F993L Substitution - Missense 21:37156893-37156893 + TCGA-E6-A1LZ-01 COSM1030581 c.2979C>G p.F993L Substitution - Missense 21:37156893-37156893 + SNU-C4 COSM2844893 c.4685delA p.E1565fs*6 Deletion - Frameshift 21:37182841-37182841 + LAU50_2 COSM250028 c.1753_1759del? p.? Unknown 21:37140654-37140660 + HCA7 COSM111630 c.2327delA p.E779fs*5 Deletion - Frameshift 21:37151943-37151943 + 587284 COSM1230800 c.3353T>C p.L1118S Substitution - Missense 21:37165567-37165567 + TCGA-D3-A3C7-06 COSM3550605 c.3884C>T p.S1295F Substitution - Missense 21:37166098-37166098 + 4760_CLM COSM5755674 c.2435G>A p.R812H Substitution - Missense 21:37152972-37152972 + 5853_CLM COSM1176679 c.971A>C p.K324T Substitution - Missense 21:37121887-37121887 + TCGA-CA-6718-01 COSM1414027 c.2380G>T p.E794* Substitution - Nonsense 21:37151996-37151996 + sysucc-1397T COSM5474324 c.5199A>G p.S1733S Substitution - coding silent 21:37192195-37192195 + TCGA-AA-A010-01 COSM286060 c.1796T>C p.F599S Substitution - Missense 21:37144548-37144548 + XHDG05 COSM4768421 c.2277-9G>T p.? Unknown 21:37151884-37151884 + TCGA-BS-A0UV-01 COSM1030583 c.3241G>A p.E1081K Substitution - Missense 21:37164121-37164121 + TCGA-EE-A20C-06 COSM3550607 c.4458G>A p.E1486E Substitution - coding silent 21:37167611-37167611 + BN03T COSM3708048 c.5475G>A p.K1825K Substitution - coding silent 21:37195932-37195932 + SC_9011 COSM725183 c.5973C>T p.S1991S Substitution - coding silent 21:37201469-37201469 + TCGA-BS-A0UV-01 COSM1030582 c.3170+1G>T p.? Unknown 21:37162064-37162064 + TCGA-BR-8680-01 COSM4101503 c.1352A>C p.K451T Substitution - Missense 21:37129057-37129057 + TCGA-EE-A2GO-06 COSM3550603 c.3766C>T p.P1256S Substitution - Missense 21:37165980-37165980 + BD129T COSM5500820 c.4162C>T p.H1388Y Substitution - Missense 21:37166376-37166376 + CSCC-49-T COSM4454425 c.4847A>G p.K1616R Substitution - Missense 21:37187069-37187069 + TCGA-CA-6717-01 COSM1414022 c.538A>C p.I180L Substitution - Missense 21:37091350-37091350 + PD4772a COSM3719211 c.3897T>C p.V1299V Substitution - coding silent 21:37166111-37166111 + TCGA-AP-A0LP-01 COSM1030593 c.4462C>T p.R1488* Substitution - Nonsense 21:37167615-37167615 + SNU-175 COSM2844894 c.4767_4768insA p.N1591fs*2 Insertion - Frameshift 21:37185715-37185716 + HN_62854 COSM129949 c.1273C>T p.H425Y Substitution - Missense 21:37126119-37126119 + 9399_PT COSM5755678 c.2723A>G p.Q908R Substitution - Missense 21:37153260-37153260 + T2269 COSM4737149 c.2590A>C p.N864H Substitution - Missense 21:37153127-37153127 + TCGA-AC-A23H-01 COSM3841889 c.2155G>A p.E719K Substitution - Missense 21:37150114-37150114 + STC297 COSM5057584 c.1761_1762insAA p.N590fs*5 Insertion - Frameshift 21:37140662-37140663 + S01861 COSM5671269 c.2698G>T p.E900* Substitution - Nonsense 21:37153235-37153235 + 2476_CLM COSM5755658 c.793T>C p.Y265H Substitution - Missense 21:37096591-37096591 + TCGA-AX-A05Z-01 COSM1030572 c.1407G>T p.E469D Substitution - Missense 21:37132730-37132730 + 587222 COSM1230799 c.737G>T p.R246I Substitution - Missense 21:37095399-37095399 + OSCC-GB_00120111 COSM3713439 c.1138C>G p.P380A Substitution - Missense 21:37124647-37124647 + J87_T COSM3963963 c.6006G>A p.L2002L Substitution - coding silent 21:37201502-37201502 + TCGA-LQ-A4E4-01 COSM3550606 c.3964C>T p.P1322S Substitution - Missense 21:37166178-37166178 + RKO COSM2844853 c.2327_2328delAA p.K778fs*18 Deletion - Frameshift 21:37151943-37151944 + TCGA-AP-A059-01 COSM1030573 c.1524C>T p.S508S Substitution - coding silent 21:37135460-37135460 + 409 COSM4430708 c.5609T>C p.V1870A Substitution - Missense 21:37197599-37197599 + pfg054T COSM4753150 c.1416T>G p.F472L Substitution - Missense 21:37132739-37132739 + NB-1100 COSM1288686 c.4925T>G p.V1642G Substitution - Missense 21:37188496-37188496 + TCGA-FW-A3R5-06 COSM3912076 c.3368C>T p.P1123L Substitution - Missense 21:37165582-37165582 + CSCC-27-T COSM4498596 c.5235C>T p.L1745L Substitution - coding silent 21:37195692-37195692 + DLD1 COSM2844915 c.5868C>T p.S1956S Substitution - coding silent 21:37200249-37200249 + 2P3 COSM3733770 c.5981C>T p.P1994L Substitution - Missense 21:37201477-37201477 + TCGA-CU-A3YL-01 COSM3799896 c.1636C>G p.L546V Substitution - Missense 21:37138691-37138691 + HCC140 COSM3708044 c.3005C>A p.T1002N Substitution - Missense 21:37159711-37159711 + TCGA-FU-A3HY-01 COSM4838758 c.2763C>G p.F921L Substitution - Missense 21:37156677-37156677 + 18 COSM5745463 c.1568delA p.I525fs*1 Deletion - Frameshift 21:37135504-37135504 + B86 COSM1030597 c.5884G>A p.E1962K Substitution - Missense 21:37200265-37200265 + 5T COSM108633 c.1930C>G p.P644A Substitution - Missense 21:37147517-37147517 + TCGA-AC-A23H-01 COSM3841885 c.1657G>T p.E553* Substitution - Nonsense 21:37138712-37138712 + TCGA-24-1544-01 COSM115864 c.1247C>T p.A416V Substitution - Missense 21:37126093-37126093 + 9642_CLM COSM5755666 c.1370C>A p.P457Q Substitution - Missense 21:37132693-37132693 + TCGA-D1-A167-01 COSM1030589 c.3604C>T p.R1202* Substitution - Nonsense 21:37165818-37165818 + TCGA-BR-4184-01 COSM4101505 c.1601A>T p.N534I Substitution - Missense 21:37138656-37138656 + HX16T COSM1288686 c.4925T>G p.V1642G Substitution - Missense 21:37188496-37188496 + TCGA-HJ-7597-01 COSM4101499 c.1229T>C p.L410P Substitution - Missense 21:37124738-37124738 + TCGA-AA-A010-01 COSM286063 c.5995C>T p.R1999C Substitution - Missense 21:37201491-37201491 + HCT-15 COSM1681962 c.6004C>A p.L2002M Substitution - Missense 21:37201500-37201500 + CHEWS011 COSM2844816 c.173G>A p.S58N Substitution - Missense 21:37087861-37087861 + TCGA-EE-A3JA-06 COSM3550613 c.5867C>T p.S1956F Substitution - Missense 21:37200248-37200248 + 250LT COSM4382019 c.60C>G p.C20W Substitution - Missense 21:37087317-37087317 + LS411 COSM2844893 c.4685delA p.E1565fs*6 Deletion - Frameshift 21:37182841-37182841 + TCGA-AZ-6598-01 COSM1414024 c.2027G>A p.R676H Substitution - Missense 21:37148556-37148556 + pfg181T COSM111630 c.2327delA p.E779fs*5 Deletion - Frameshift 21:37151943-37151943 + 587228 COSM1230797 c.829C>T p.R277C Substitution - Missense 21:37096627-37096627 + TCGA-IR-A3LK-01 COSM4816417 c.5650G>A p.D1884N Substitution - Missense 21:37197640-37197640 + HCC1937 COSM33050 c.3866A>T p.K1289M Substitution - Missense 21:37166080-37166080 + SH-0420 COSM5018714 c.133T>G p.C45G Substitution - Missense 21:37087390-37087390 + 2557_CLM COSM5755668 c.1433C>G p.A478G Substitution - Missense 21:37132756-37132756 + TCGA-DK-A3IT-01 COSM1307779 c.507G>C p.L169L Substitution - coding silent 21:37091319-37091319 + TCGA-AX-A05Z-01 COSM1030570 c.1067G>A p.R356Q Substitution - Missense 21:37122986-37122986 + TCGA-DK-A2I4-01 COSM3799894 c.369G>A p.K123K Substitution - coding silent 21:37088829-37088829 + MSK-PCa7_tissue COSM5423574 c.119_120insTGA p.V40_T41insE Insertion - In frame 21:37087376-37087377 + MN-300 COSM1578794 c.5889G>A p.V1963V Substitution - coding silent 21:37200270-37200270 + 2492723 COSM5723175 c.314G>A p.R105Q Substitution - Missense 21:37088322-37088322 + CHC892T COSM4958962 c.3472G>A p.G1158R Substitution - Missense 21:37165686-37165686 + pfg019T COSM111630 c.2327delA p.E779fs*5 Deletion - Frameshift 21:37151943-37151943 + CSCC-16-T COSM4540925 c.2912G>T p.C971F Substitution - Missense 21:37156826-37156826 + TCGA-B5-A11E-01 COSM1030586 c.3481C>T p.R1161C Substitution - Missense 21:37165695-37165695 + TCGA-CZ-5465-01 COSM478573 c.4405T>A p.S1469T Substitution - Missense 21:37167558-37167558 + TCGA-AX-A0J1-01 COSM1030584 c.3268G>A p.E1090K Substitution - Missense 21:37164148-37164148 + TCGA-D3-A2JH-06 COSM3550593 c.2399A>T p.N800I Substitution - Missense 21:37152015-37152015 + PT25 COSM3758871 c.5251G>C p.D1751H Substitution - Missense 21:37195708-37195708 + YULONE COSM383330 c.1333C>T p.R445* Substitution - Nonsense 21:37129038-37129038 + TCGA-D1-A17D-01 COSM1030563 c.246C>T p.C82C Substitution - coding silent 21:37088254-37088254 + DLD1 COSM2844862 c.2807T>A p.I936N Substitution - Missense 21:37156721-37156721 + HCC140T COSM3708044 c.3005C>A p.T1002N Substitution - Missense 21:37159711-37159711 + 202_T COSM3963961 c.3279C>T p.V1093V Substitution - coding silent 21:37164159-37164159 + ccRCC-88 COSM1665822 c.2795delT p.D933fs*5 Deletion - Frameshift 21:37156709-37156709 + C086 COSM3550606 c.3964C>T p.P1322S Substitution - Missense 21:37166178-37166178 + ESCC_35 COSM5628647 c.2754A>T p.T918T Substitution - coding silent 21:37156668-37156668 + T2950 COSM4737151 c.2686C>T p.L896F Substitution - Missense 21:37153223-37153223 + TCGA-AN-A046-01 COSM3841887 c.2125C>A p.L709I Substitution - Missense 21:37150084-37150084 + LUAD-S01315 COSM345174 c.5314A>T p.R1772W Substitution - Missense 21:37195771-37195771 + SNU-C4 COSM4615656 c.1749delA p.V585fs*3 Deletion - Frameshift 21:37140650-37140650 + TCGA-D8-A147-01 COSM444436 c.2588G>A p.R863K Substitution - Missense 21:37153125-37153125 + 2293762 COSM4609753 c.2011_2016+1delTTTAAGG p.? Unknown 21:37147598-37147604 + TCGA-AX-A0J0-01 COSM1030585 c.3418G>T p.E1140* Substitution - Nonsense 21:37165632-37165632 + RMS112_ COSM4591780 c.1235T>G p.V412G Substitution - Missense 21:37126081-37126081 + TCGA-EE-A29M-06 COSM3550591 c.2394C>T p.P798P Substitution - coding silent 21:37152010-37152010 + B24-Tumor COSM1751630 c.2365G>C p.E789Q Substitution - Missense 21:37151981-37151981 + TCGA-23-2649-01 COSM1327408 c.238G>A p.D80N Substitution - Missense 21:37088246-37088246 + SCC-25 COSM4591780 c.1235T>G p.V412G Substitution - Missense 21:37126081-37126081 + BCN14 COSM4172268 c.5453G>C p.R1818P Substitution - Missense 21:37195910-37195910 + Pat_27_B COSM5858606 c.5459C>T p.P1820L Substitution - Missense 21:37195916-37195916 + TCGA-DK-A1A3-01 COSM419240 c.2002G>A p.D668N Substitution - Missense 21:37147589-37147589 + 8030340 COSM3389997 c.2817C>T p.F939F Substitution - coding silent 21:37156731-37156731 + TCGA-CA-6718-01 COSM1414035 c.3791A>G p.Q1264R Substitution - Missense 21:37166005-37166005 + 5T COSM110140 c.1931C>T p.P644L Substitution - Missense 21:37147518-37147518 + Pat_41_B COSM5858603 c.3785C>T p.S1262F Substitution - Missense 21:37165999-37165999 + TCGA-BS-A0UV-01 COSM1030566 c.733G>T p.E245* Substitution - Nonsense 21:37095395-37095395 + TCGA-CA-6717-01 COSM1414034 c.3731C>A p.S1244Y Substitution - Missense 21:37165945-37165945 + HCT8 COSM2844844 c.1804G>A p.A602T Substitution - Missense 21:37144556-37144556 + HCC154 COSM3708040 c.1064G>A p.G355D Substitution - Missense 21:37122983-37122983 + TCGA-Q1-A73O-01 COSM4834939 c.2414-1G>C p.? Unknown 21:37152950-37152950 + TCGA-23-1124-01 COSM76852 c.3361C>G p.H1121D Substitution - Missense 21:37165575-37165575 + TCGA-AA-A010-01 COSM286059 c.769G>T p.A257S Substitution - Missense 21:37095431-37095431 + STC252 COSM5057586 c.3322T>C p.S1108P Substitution - Missense 21:37164202-37164202 + LAU618 COSM234321 c.4348G>T p.E1450* Substitution - Nonsense 21:37166562-37166562 + 2492729 COSM5729611 c.692G>A p.G231E Substitution - Missense 21:37095354-37095354 + T3668 COSM4737153 c.3408_3409insT p.E1140fs*27 Insertion - Frameshift 21:37165622-37165623 + STC243 COSM5057587 c.4334G>A p.C1445Y Substitution - Missense 21:37166548-37166548 + 24T COSM109272 c.3313C>A p.Q1105K Substitution - Missense 21:37164193-37164193 + TCGA-ER-A2NG-06 COSM3550608 c.4738G>C p.V1580L Substitution - Missense 21:37182894-37182894 + HCT8 COSM2844915 c.5868C>T p.S1956S Substitution - coding silent 21:37200249-37200249 + TCGA-CW-6093-01 COSM478572 c.1726T>C p.C576R Substitution - Missense 21:37140627-37140627 + TCGA-DK-A1A5-01 COSM419239 c.3688C>T p.P1230S Substitution - Missense 21:37165902-37165902 + CSCC-10-T COSM4500046 c.5567C>T p.P1856L Substitution - Missense 21:37196024-37196024 + TCGA-FW-A3R5-06 COSM3912077 c.4315G>A p.G1439R Substitution - Missense 21:37166529-37166529 + CHC892T COSM4958962 c.3472G>A p.G1158R Substitution - Missense 21:37165686-37165686 + LIM2551 COSM111630 c.2327delA p.E779fs*5 Deletion - Frameshift 21:37151943-37151943 + ESCC_BICR_060T COSM5435012 c.3885C>A p.S1295S Substitution - coding silent 21:37166099-37166099 + 5853_PT COSM1176679 c.971A>C p.K324T Substitution - Missense 21:37121887-37121887 + TCGA-AY-6197-01 COSM1268840 c.2326_2327insA p.E779fs*18 Insertion - Frameshift 21:37151942-37151943 + MS2 COSM1165338 c.847A>T p.N283Y Substitution - Missense 21:37108393-37108393 + 855_PT COSM5755662 c.1081G>A p.D361N Substitution - Missense 21:37123000-37123000 + TCGA-FJ-A3Z7-01 COSM3799895 c.369G>T p.K123N Substitution - Missense 21:37088829-37088829 + Pat_76_B COSM5858599 c.438_439CC>TT p.L147F Substitution - Missense 21:37090244-37090245 + HCC140 COSM3708045 c.3028G>T p.G1010C Substitution - Missense 21:37159734-37159734 + LUAD-QY22Z COSM394730 c.5833G>A p.D1945N Substitution - Missense 21:37198008-37198008 + LUAD-S01357 COSM387274 c.5943+1G>T p.? Unknown 21:37200325-37200325 + TCGA-FW-A3R5-06 COSM3912078 c.5474A>T p.K1825M Substitution - Missense 21:37195931-37195931 + I2L-P19Tb-Tumor-Organoid COSM5366249 c.2478G>C p.Q826H Substitution - Missense 21:37153015-37153015 + sysucc-311T COSM5465092 c.1201G>A p.E401K Substitution - Missense 21:37124710-37124710 + TCGA-D3-A51T-06 COSM3550583 c.462T>C p.I154I Substitution - coding silent 21:37090268-37090268 + TCGA-CA-6717-01 COSM1414029 c.2665T>A p.F889I Substitution - Missense 21:37153202-37153202 + 587220 COSM1230796 c.5908C>T p.R1970C Substitution - Missense 21:37200289-37200289 + S02382 COSM5697911 c.21A>T p.G7G Substitution - coding silent 21:37087278-37087278 + ZZUFHECRKL-G045T COSM5437956 c.1306C>T p.P436S Substitution - Missense 21:37129011-37129011 + 4760_CLM COSM5755658 c.793T>C p.Y265H Substitution - Missense 21:37096591-37096591 + B37 COSM1745402 c.1846delC p.T617fs*4 Deletion - Frameshift 21:37144598-37144598 + LUAD-E00897 COSM364572 c.3249C>T p.L1083L Substitution - coding silent 21:37164129-37164129 + HCT15 COSM2844915 c.5868C>T p.S1956S Substitution - coding silent 21:37200249-37200249 + HCC16T COSM1616055 c.2998C>T p.R1000C Substitution - Missense 21:37159704-37159704 + 6948_CLM COSM5755662 c.1081G>A p.D361N Substitution - Missense 21:37123000-37123000 + TCGA-43-2578-01 COSM725188 c.265A>G p.I89V Substitution - Missense 21:37088273-37088273 + B86-Tumor COSM1030597 c.5884G>A p.E1962K Substitution - Missense 21:37200265-37200265 + TCGA-A2-A0T0-01 COSM444438 c.5229G>C p.E1743D Substitution - Missense 21:37195686-37195686 + TCGA-BR-4361-01 COSM4101509 c.2790A>C p.K930N Substitution - Missense 21:37156704-37156704 + PT55 COSM4101507 c.1822C>T p.R608C Substitution - Missense 21:37144574-37144574 + C141 COSM4441488 c.1533G>T p.Q511H Substitution - Missense 21:37135469-37135469 + TCGA-A5-A0VP-01 COSM1030569 c.917G>A p.C306Y Substitution - Missense 21:37121833-37121833 + 4989_PT COSM1176679 c.971A>C p.K324T Substitution - Missense 21:37121887-37121887 + TCGA-EE-A29D-06 COSM3550606 c.3964C>T p.P1322S Substitution - Missense 21:37166178-37166178 + Pat_76_B COSM5858605 c.4451C>T p.P1484L Substitution - Missense 21:37167604-37167604 + SNUH_G76_S1 COSM4417807 c.1233+7T>A p.? Unknown 21:37124749-37124749 + TCGA-G4-6320-01 COSM1414023 c.1761_1762insA p.N590fs*11 Insertion - Frameshift 21:37140662-37140663 + 2492722 COSM5723175 c.314G>A p.R105Q Substitution - Missense 21:37088322-37088322 + HN_63058 COSM122153 c.1428C>G p.S476S Substitution - coding silent 21:37132751-37132751 + TCGA-AA-A010-01 COSM286062 c.4663G>A p.E1555K Substitution - Missense 21:37182819-37182819 + PR-2915 COSM242669 c.5735A>G p.Y1912C Substitution - Missense 21:37197910-37197910 + TCGA-FS-A1Z3-06 COSM3550610 c.5565C>T p.F1855F Substitution - coding silent 21:37196022-37196022 + TCGA-B5-A11H-01 COSM1030591 c.3769G>A p.V1257I Substitution - Missense 21:37165983-37165983 + TCGA-FU-A3HZ-01 COSM4840128 c.1676A>G p.E559G Substitution - Missense 21:37140577-37140577 + C058 COSM5525737 c.1812C>T p.T604T Substitution - coding silent 21:37144564-37144564 + T2269 COSM277871 c.3176G>A p.R1059Q Substitution - Missense 21:37164056-37164056 + B5 COSM253873 c.5156C>T p.S1719F Substitution - Missense 21:37192152-37192152 + 587222 COSM1230798 c.361A>C p.N121H Substitution - Missense 21:37088821-37088821 + 2292383 COSM4591780 c.1235T>G p.V412G Substitution - Missense 21:37126081-37126081 + HCC123T COSM5816852 c.1580A>T p.Q527L Substitution - Missense 21:37138635-37138635 + 2476_CLM COSM5755657 c.688G>C p.E230Q Substitution - Missense 21:37095350-37095350 + pfg009T COSM1641460 c.2210_2211+2delAAGT p.? Unknown 21:37150169-37150172 + TCGA-D1-A103-01 COSM1030575 c.1918G>T p.E640* Substitution - Nonsense 21:37147505-37147505 + 256528 COSM3725119 c.3574G>T p.E1192* Substitution - Nonsense 21:37165788-37165788 + HDC87 COSM4637031 c.1905G>A p.E635E Substitution - coding silent 21:37147492-37147492 + 112319 COSM95416 c.5647A>T p.I1883F Substitution - Missense 21:37197637-37197637 + TCGA-AP-A059-01 COSM1030562 c.150G>A p.V50V Substitution - coding silent 21:37087838-37087838 + 01-P1216 COSM4582073 c.3902A>G p.E1301G Substitution - Missense 21:37166116-37166116 + I2L-P19Tb-Tumor-Biopsy COSM5366249 c.2478G>C p.Q826H Substitution - Missense 21:37153015-37153015 + HCC162T COSM3708042 c.1521C>T p.R507R Substitution - coding silent 21:37135457-37135457 + 855_PT COSM5755676 c.2643T>G p.N881K Substitution - Missense 21:37153180-37153180 + ESO-R61 COSM1268842 c.2483C>T p.A828V Substitution - Missense 21:37153020-37153020 + 96 COSM5013649 c.2067G>A p.M689I Substitution - Missense 21:37148596-37148596 + 084T COSM1731066 c.3444A>T p.K1148N Substitution - Missense 21:37165658-37165658 + TCGA-66-2786-01 COSM725183 c.5973C>T p.S1991S Substitution - coding silent 21:37201469-37201469 + TCGA-CD-A487-01 COSM4101510 c.2833T>C p.Y945H Substitution - Missense 21:37156747-37156747 + TCGA-EV-5902-01 COSM3991931 c.3281G>A p.R1094H Substitution - Missense 21:37164161-37164161 + TCGA-AG-A002-01 COSM264254 c.1461G>T p.M487I Substitution - Missense 21:37135397-37135397 + TCGA-D3-A2JL-06 COSM3550611 c.5571T>G p.C1857W Substitution - Missense 21:37196028-37196028 + HCT15 COSM2844862 c.2807T>A p.I936N Substitution - Missense 21:37156721-37156721 + TCGA-CG-5721-01 COSM4101513 c.4012G>A p.V1338M Substitution - Missense 21:37166226-37166226 + pfg122T COSM2844893 c.4685delA p.E1565fs*6 Deletion - Frameshift 21:37182841-37182841 + SNU-C2B COSM111630 c.2327delA p.E779fs*5 Deletion - Frameshift 21:37151943-37151943 + UM-SCC-2 COSM4591780 c.1235T>G p.V412G Substitution - Missense 21:37126081-37126081 + RMS10_ COSM4591780 c.1235T>G p.V412G Substitution - Missense 21:37126081-37126081 + TCGA-FS-A1ZK-06 COSM3550587 c.1708C>T p.P570S Substitution - Missense 21:37140609-37140609 + 134430 COSM326792 c.2008G>A p.D670N Substitution - Missense 21:37147595-37147595 + TCGA-D9-A1JW-06 COSM3550612 c.5703A>G p.K1901K Substitution - coding silent 21:37197693-37197693 + 2476_PT COSM5755666 c.1370C>A p.P457Q Substitution - Missense 21:37132693-37132693 + TCGA-AB-2910-03 COSM1318805 c.3774C>T p.S1258S Substitution - coding silent 21:37165988-37165988 + TCGA-BS-A0UF-01 COSM1030587 c.3582T>G p.I1194M Substitution - Missense 21:37165796-37165796 + TCGA-CK-5916-01 COSM1414023 c.1761_1762insA p.N590fs*11 Insertion - Frameshift 21:37140662-37140663 + PD18017a COSM5773782 c.5516C>T p.S1839F Substitution - Missense 21:37195973-37195973 + TCGA-DD-A4NJ-01 COSM4921016 c.4201G>A p.A1401T Substitution - Missense 21:37166415-37166415 + PT32 COSM5907774 c.3196C>T p.P1066S Substitution - Missense 21:37164076-37164076 + PT15_1 COSM5898037 c.2062C>T p.H688Y Substitution - Missense 21:37148591-37148591 + TCGA-AC-A23H-01 COSM3841884 c.756C>G p.I252M Substitution - Missense 21:37095418-37095418 + HCT8 COSM2844904 c.5529G>A p.P1843P Substitution - coding silent 21:37195986-37195986 + CH-103-T2 COSM5650519 c.5461G>A p.V1821M Substitution - Missense 21:37195918-37195918 + TCGA-A6-6781-01 COSM1268840 c.2326_2327insA p.E779fs*18 Insertion - Frameshift 21:37151942-37151943 + SNUH_G37_S1 COSM3681270 c.2351C>A p.A784E Substitution - Missense 21:37151967-37151967 + 5853_PT COSM5755658 c.793T>C p.Y265H Substitution - Missense 21:37096591-37096591 + TCGA-AG-A002-01 COSM264255 c.3421G>T p.E1141* Substitution - Nonsense 21:37165635-37165635 + BZ15 COSM5758355 c.1871A>T p.E624V Substitution - Missense 21:37144623-37144623 + LUAD-RT-S01832 COSM384653 c.3995C>T p.P1332L Substitution - Missense 21:37166209-37166209 + 631076 COSM324046 c.3428G>T p.R1143L Substitution - Missense 21:37165642-37165642 + 587342 COSM1230802 c.5245T>C p.S1749P Substitution - Missense 21:37195702-37195702 + SNUH_G10_S1 COSM4002019 c.1755A>G p.V585V Substitution - coding silent 21:37140656-37140656 + TCGA-B5-A0JY-01 COSM1030595 c.4587G>T p.E1529D Substitution - Missense 21:37172714-37172714 + 2951_PT COSM5755657 c.688G>C p.E230Q Substitution - Missense 21:37095350-37095350 + B5-Tumor COSM253874 c.5174C>G p.S1725C Substitution - Missense 21:37192170-37192170 + PDA_023 COSM3758871 c.5251G>C p.D1751H Substitution - Missense 21:37195708-37195708 + TCGA-AX-A05Z-01 COSM1030578 c.2463A>G p.L821L Substitution - coding silent 21:37153000-37153000 + WSU-HN8 COSM4591780 c.1235T>G p.V412G Substitution - Missense 21:37126081-37126081 + CSCC-16-T COSM4571908 c.5796T>G p.V1932V Substitution - coding silent 21:37197971-37197971 + 90 COSM5016669 c.2763_2764insTT p.S923fs*16 Insertion - Frameshift 21:37156677-37156678 + C135 COSM1414023 c.1761_1762insA p.N590fs*11 Insertion - Frameshift 21:37140662-37140663 + CHC892T COSM4798589 c.145-1G>A p.? Unknown 21:37087832-37087832 + HCC014T COSM5814452 c.2559A>T p.T853T Substitution - coding silent 21:37153096-37153096 + SNUH_G15_S1 COSM3681272 c.3502T>A p.C1168S Substitution - Missense 21:37165716-37165716 + pfg016T COSM111630 c.2327delA p.E779fs*5 Deletion - Frameshift 21:37151943-37151943 + LUAD-RT-S01721 COSM380538 c.2854A>G p.I952V Substitution - Missense 21:37156768-37156768 + NOKSI COSM4591780 c.1235T>G p.V412G Substitution - Missense 21:37126081-37126081 + sysucc-311T COSM5465094 c.5850+8T>C p.? Unknown 21:37198033-37198033 + TCGA-EE-A3JB-06 COSM4898291 c.1574T>A p.I525K Substitution - Missense 21:37135510-37135510 + LUAD-B00859 COSM332371 c.1844G>A p.W615* Substitution - Nonsense 21:37144596-37144596 + T3094 COSM186948 c.4669delA p.K1558fs*13 Deletion - Frameshift 21:37182825-37182825 + P50 COSM328929 c.1456A>G p.I486V Substitution - Missense 21:37135392-37135392 + TCGA-AN-A03X-01 COSM444437 c.4026G>T p.L1342F Substitution - Missense 21:37166240-37166240 + TCGA-36-1580-01 COSM111630 c.2327delA p.E779fs*5 Deletion - Frameshift 21:37151943-37151943 + 12T COSM3713439 c.1138C>G p.P380A Substitution - Missense 21:37124647-37124647 + TCGA-BH-A0HF-01 COSM3841893 c.5907G>A p.V1969V Substitution - coding silent 21:37200288-37200288 + TCGA-F5-6814-01 COSM3423946 c.107A>C p.D36A Substitution - Missense 21:37087364-37087364 + CHC892T COSM4798589 c.145-1G>A p.? Unknown 21:37087832-37087832 + Pat_76_A COSM5858599 c.438_439CC>TT p.L147F Substitution - Missense 21:37090244-37090245 + 587256 COSM1230805 c.4381G>A p.V1461M Substitution - Missense 21:37166595-37166595 + T3080 COSM4737147 c.112G>A p.V38I Substitution - Missense 21:37087369-37087369 + 2951_CLM COSM5755676 c.2643T>G p.N881K Substitution - Missense 21:37153180-37153180 + CSCC-27-T COSM4486358 c.303C>T p.S101S Substitution - coding silent 21:37088311-37088311 + TCGA-AA-A00N-01 COSM277872 c.3637G>A p.E1213K Substitution - Missense 21:37165851-37165851 + SCMC_RM2_ COSM2844887 c.4080G>C p.Q1360H Substitution - Missense 21:37166294-37166294 + TCGA-CC-A7IJ-01 COSM4924483 c.339-2A>T p.? Unknown 21:37088797-37088797 + TCGA-B5-A0K2-01 COSM1030592 c.3869G>A p.R1290Q Substitution - Missense 21:37166083-37166083 + HCT15 COSM1681961 c.5857G>T p.G1953C Substitution - Missense 21:37200238-37200238 + TCGA-DK-A3IN-01 COSM3799898 c.5290A>T p.T1764S Substitution - Missense 21:37195747-37195747 + LOVO COSM4296118 c.2999G>A p.R1000H Substitution - Missense 21:37159705-37159705 + cSCCP1 COSM135893 c.1567C>T p.Q523* Substitution - Nonsense 21:37135503-37135503 + 49M COSM4101507 c.1822C>T p.R608C Substitution - Missense 21:37144574-37144574 + 433 COSM4433667 c.5649T>C p.I1883I Substitution - coding silent 21:37197639-37197639 + 587342 COSM1230801 c.1030G>A p.V344I Substitution - Missense 21:37121946-37121946 + T2269 COSM4737155 c.5283C>T p.S1761S Substitution - coding silent 21:37195740-37195740 + TCGA-BS-A0UV-01 COSM277872 c.3637G>A p.E1213K Substitution - Missense 21:37165851-37165851 + C0023T COSM4164835 c.4468G>A p.G1490R Substitution - Missense 21:37172595-37172595 + TCGA-F1-A448-01 COSM4101507 c.1822C>T p.R608C Substitution - Missense 21:37144574-37144574 + TCGA-CG-5718-01 COSM4101497 c.940G>A p.E314K Substitution - Missense 21:37121856-37121856 + YUHEF COSM1713982 c.3178A>G p.N1060D Substitution - Missense 21:37164058-37164058 + TCGA-DU-5852-01 COSM3972769 c.3248T>G p.L1083R Substitution - Missense 21:37164128-37164128 + TCGA-AZ-6601-01 COSM3693856 c.4406C>A p.S1469Y Substitution - Missense 21:37167559-37167559 + 2293762 COSM4606993 c.2016+3A>G p.? Unknown 21:37147606-37147606 + 107048 COSM95414 c.2031C>G p.I677M Substitution - Missense 21:37148560-37148560 + TCGA-D1-A16X-01 COSM1030576 c.2002G>T p.D668Y Substitution - Missense 21:37147589-37147589 + TCGA-AS-3777-01 COSM1495180 c.5259C>T p.G1753G Substitution - coding silent 21:37195716-37195716 + PD24207a COSM5768249 c.3393C>T p.F1131F Substitution - coding silent 21:37165607-37165607 + EOPC-194_tumor_01 COSM5950496 c.4533A>G p.E1511E Substitution - coding silent 21:37172660-37172660 + TCGA-HJ-7597-01 COSM4101511 c.2958G>A p.L986L Substitution - coding silent 21:37156872-37156872 + TCGA-EK-A3GM-01 COSM4823462 c.1903G>C p.E635Q Substitution - Missense 21:37147490-37147490 + 2492721 COSM5723175 c.314G>A p.R105Q Substitution - Missense 21:37088322-37088322 + 2292387 COSM2844840 c.1667C>G p.S556C Substitution - Missense 21:37140568-37140568 + TCGA-D9-A6EC-06 COSM4401983 c.2459T>G p.I820S Substitution - Missense 21:37152996-37152996 + TCGA-F5-6814-01 COSM3423947 c.247G>A p.D83N Substitution - Missense 21:37088255-37088255 + TCGA-CG-5721-01 COSM4101516 c.4370A>G p.N1457S Substitution - Missense 21:37166584-37166584 + DLD1 COSM2844904 c.5529G>A p.P1843P Substitution - coding silent 21:37195986-37195986 + XHDG04 COSM4768391 c.4177G>A p.E1393K Substitution - Missense 21:37166391-37166391 + HCT116 COSM111630 c.2327delA p.E779fs*5 Deletion - Frameshift 21:37151943-37151943 + 8804_CLM COSM5755657 c.688G>C p.E230Q Substitution - Missense 21:37095350-37095350 + TCGA-B5-A11E-01 COSM1030571 c.1238C>T p.A413V Substitution - Missense 21:37126084-37126084 + TCGA-AG-3892-01 COSM258264 c.160G>T p.D54Y Substitution - Missense 21:37087848-37087848 + LC_S3 COSM1190352 c.925C>G p.L309V Substitution - Missense 21:37121841-37121841 + ESO-187 COSM1268840 c.2326_2327insA p.E779fs*18 Insertion - Frameshift 21:37151942-37151943 + TCGA-DA-A1IC-06 COSM3550602 c.3155C>T p.S1052L Substitution - Missense 21:37162048-37162048 + sysucc-1317T COSM5449506 c.4188T>C p.A1396A Substitution - coding silent 21:37166402-37166402 + tumor_4120193 COSM3953087 c.5707-10A>T p.? Unknown 21:37197872-37197872 + PT34 COSM5911079 c.5965G>A p.G1989R Substitution - Missense 21:37201461-37201461 + 2492720 COSM5723175 c.314G>A p.R105Q Substitution - Missense 21:37088322-37088322 + TCGA-AM-5821-01 COSM3758871 c.5251G>C p.D1751H Substitution - Missense 21:37195708-37195708 + 86502 COSM95415 c.5324G>C p.S1775T Substitution - Missense 21:37195781-37195781 + PD13428a COSM5790388 c.6039C>G p.P2013P Substitution - coding silent 21:37201535-37201535 + 585205 COSM324045 c.5549A>G p.H1850R Substitution - Missense 21:37196006-37196006 + CSCC-60-T COSM4512679 c.910C>T p.R304C Substitution - Missense 21:37121826-37121826 + B5-Tumor COSM253873 c.5156C>T p.S1719F Substitution - Missense 21:37192152-37192152 + HCC140T COSM3708045 c.3028G>T p.G1010C Substitution - Missense 21:37159734-37159734 + J33_T COSM3963962 c.4380C>A p.H1460Q Substitution - Missense 21:37166594-37166594 + CSCC-44-T COSM4101507 c.1822C>T p.R608C Substitution - Missense 21:37144574-37144574 + TCGA-34-5232-01 COSM725187 c.1674C>T p.A558A Substitution - coding silent 21:37140575-37140575 + HCC127T COSM5822774 c.2806A>G p.I936V Substitution - Missense 21:37156720-37156720 + Pat_41_B COSM5858604 c.3841C>T p.P1281S Substitution - Missense 21:37166055-37166055 + TCGA-EL-A3T0-01 COSM3371806 c.3263G>A p.S1088N Substitution - Missense 21:37164143-37164143 + SCC-9 COSM4591780 c.1235T>G p.V412G Substitution - Missense 21:37126081-37126081 + CHC1052T COSM3668524 c.3233A>C p.E1078A Substitution - Missense 21:37164113-37164113 + PD24207a COSM5768250 c.3625C>G p.P1209A Substitution - Missense 21:37165839-37165839 + U343 COSM5712959 c.3096G>A p.K1032K Substitution - coding silent 21:37160858-37160858 + pfg143T COSM111630 c.2327delA p.E779fs*5 Deletion - Frameshift 21:37151943-37151943 + ZZUFHECRKL-G062T COSM5432862 c.188-8T>A p.? Unknown 21:37088188-37088188 + ME009T COSM224076 c.3722C>T p.S1241F Substitution - Missense 21:37165936-37165936 + TCGA-AA-A010-01 COSM286061 c.3424A>G p.T1142A Substitution - Missense 21:37165638-37165638 + TCGA-BK-A0CA-01 COSM1030577 c.2209G>T p.E737* Substitution - Nonsense 21:37150168-37150168 + QC2-33-T2 COSM5654573 c.1182T>C p.D394D Substitution - coding silent 21:37124691-37124691 + TCGA-B5-A0JY-01 COSM1030584 c.3268G>A p.E1090K Substitution - Missense 21:37164148-37164148 + TCGA-BR-6452-01 COSM4101515 c.4310A>G p.H1437R Substitution - Missense 21:37166524-37166524 + TCGA-D1-A101-01 COSM1030574 c.1554C>T p.N518N Substitution - coding silent 21:37135490-37135490 + TCGA-EI-6507-01 COSM1566068 c.5671A>G p.T1891A Substitution - Missense 21:37197661-37197661 + TCGA-ER-A19F-06 COSM3550585 c.1659+2T>C p.? Unknown 21:37138716-37138716 + CSCC-11-T COSM4461229 c.1198C>T p.H400Y Substitution - Missense 21:37124707-37124707 + TCGA-BS-A0UV-01 COSM1030594 c.4522G>A p.E1508K Substitution - Missense 21:37172649-37172649 + TCGA-B0-4712-01 COSM478570 c.599A>G p.E200G Substitution - Missense 21:37091411-37091411 + TCGA-B5-A0JY-01 COSM1030590 c.3714A>G p.K1238K Substitution - coding silent 21:37165928-37165928 + sysucc-880T COSM5463021 c.4272T>C p.A1424A Substitution - coding silent 21:37166486-37166486 + TCGA-EE-A2MS-06 COSM3550597 c.2692G>A p.E898K Substitution - Missense 21:37153229-37153229 + 6948_CLM COSM5755659 c.946G>A p.D316N Substitution - Missense 21:37121862-37121862 + 2476_CLM COSM5755666 c.1370C>A p.P457Q Substitution - Missense 21:37132693-37132693 + BCN8 COSM4172265 c.1210A>C p.N404H Substitution - Missense 21:37124719-37124719 + PD7219a COSM1534716 c.2668C>T p.L890L Substitution - coding silent 21:37153205-37153205 + HCC83 COSM3708047 c.3705G>T p.V1235V Substitution - coding silent 21:37165919-37165919 + PCSI_0476_Pa_P_526 COSM5031353 c.845+1G>T p.? Unknown 21:37096644-37096644 + PT37 COSM5921828 c.439C>T p.L147F Substitution - Missense 21:37090245-37090245 + BD6T COSM111630 c.2327delA p.E779fs*5 Deletion - Frameshift 21:37151943-37151943 + CSCC-44-T COSM4500825 c.5742C>T p.P1914P Substitution - coding silent 21:37197917-37197917 + TCGA-BR-8680-01 COSM4101518 c.4864T>C p.Y1622H Substitution - Missense 21:37187086-37187086 + HCT15 COSM2844904 c.5529G>A p.P1843P Substitution - coding silent 21:37195986-37195986 + OST8T COSM1732592 c.533T>G p.V178G Substitution - Missense 21:37091345-37091345 + T578 COSM4737154 c.4797A>C p.E1599D Substitution - Missense 21:37185745-37185745 + pfg068T COSM4765177 c.4685_4686insA p.E1565fs*14 Insertion - Frameshift 21:37182841-37182842 + TCGA-DD-A11C-01 COSM4925587 c.5905G>A p.V1969M Substitution - Missense 21:37200286-37200286 + 587342 COSM1230803 c.5851-2A>G p.? Unknown 21:37200230-37200230 + GCT44 COSM5749814 c.2825A>G p.N942S Substitution - Missense 21:37156739-37156739 + I2L-P6-Tumor-Organoid COSM5366293 c.5602A>T p.K1868* Substitution - Nonsense 21:37197592-37197592 + TCGA-AA-3510-01 COSM1414031 c.3303G>T p.M1101I Substitution - Missense 21:37164183-37164183 + PD18730a COSM5796641 c.2998C>G p.R1000G Substitution - Missense 21:37159704-37159704 + TCGA-BR-6452-01 COSM4101496 c.213T>C p.C71C Substitution - coding silent 21:37088221-37088221 + TCGA-G3-A25S-01 COSM4926875 c.4385A>G p.Q1462R Substitution - Missense 21:37166599-37166599 + CSCC-29-T COSM4473110 c.1828C>T p.P610S Substitution - Missense 21:37144580-37144580 + MSK-PCa7_organoid COSM5423574 c.119_120insTGA p.V40_T41insE Insertion - In frame 21:37087376-37087377 + TCGA-AP-A054-01 COSM1030565 c.567T>C p.N189N Substitution - coding silent 21:37091379-37091379 + SNUH_G76_S1 COSM4002019 c.1755A>G p.V585V Substitution - coding silent 21:37140656-37140656 + CSB34 COSM5028756 c.2887C>A p.P963T Substitution - Missense 21:37156801-37156801 + CHC1052T COSM3668524 c.3233A>C p.E1078A Substitution - Missense 21:37164113-37164113 + CAL27 COSM4591780 c.1235T>G p.V412G Substitution - Missense 21:37126081-37126081 + WSU-HN13 COSM4591780 c.1235T>G p.V412G Substitution - Missense 21:37126081-37126081 + TCGA-ER-A19F-06 COSM3550604 c.3813C>T p.P1271P Substitution - coding silent 21:37166027-37166027 + TCGA-EE-A29V-06 COSM3550589 c.1836G>C p.V612V Substitution - coding silent 21:37144588-37144588 + S02277 COSM5683237 c.5613A>T p.R1871R Substitution - coding silent 21:37197603-37197603 + TCGA-AX-A0J0-01 COSM1030564 c.364T>C p.L122L Substitution - coding silent 21:37088824-37088824 + ME009T COSM224077 c.5405C>T p.T1802I Substitution - Missense 21:37195862-37195862 + PTC_362 COSM4591780 c.1235T>G p.V412G Substitution - Missense 21:37126081-37126081 + LUAD-RT-S01813 COSM383330 c.1333C>T p.R445* Substitution - Nonsense 21:37129038-37129038 + TCGA-AX-A0J1-01 COSM1030580 c.2922G>A p.W974* Substitution - Nonsense 21:37156836-37156836 + LP6007520-DNA_A01 COSM4413098 c.1017A>C p.L339L Substitution - coding silent 21:37121933-37121933 + TCGA-EE-A2MS-06 COSM3550601 c.2848G>A p.D950N Substitution - Missense 21:37156762-37156762 + TCGA-AO-A03M-01 COSM3841892 c.4165C>T p.H1389Y Substitution - Missense 21:37166379-37166379 + PD4958a COSM5788219 c.2888C>T p.P963L Substitution - Missense 21:37156802-37156802 + PD18017a COSM5773764 c.5363C>T p.S1788F Substitution - Missense 21:37195820-37195820 + 93VU147T COSM4591780 c.1235T>G p.V412G Substitution - Missense 21:37126081-37126081 + TCGA-B5-A0JY-01 COSM1030596 c.5156C>A p.S1719Y Substitution - Missense 21:37192152-37192152 + LOVO COSM1414023 c.1761_1762insA p.N590fs*11 Insertion - Frameshift 21:37140662-37140663 + B5 COSM253874 c.5174C>G p.S1725C Substitution - Missense 21:37192170-37192170 + TCGA-BR-6452-01 COSM4101519 c.5832A>T p.E1944D Substitution - Missense 21:37198007-37198007 + Pat_76_A COSM5858605 c.4451C>T p.P1484L Substitution - Missense 21:37167604-37167604 + HCC113T COSM3708046 c.3059A>G p.K1020R Substitution - Missense 21:37160821-37160821 + DLD1 COSM2844844 c.1804G>A p.A602T Substitution - Missense 21:37144556-37144556 + TCGA-AZ-4315-01 COSM1414028 c.2456G>T p.R819I Substitution - Missense 21:37152993-37152993 + TCGA-Q1-A5R2-01 COSM4850214 c.227C>T p.S76F Substitution - Missense 21:37088235-37088235 + TCGA-43-3394-01 COSM725184 c.5567C>G p.P1856R Substitution - Missense 21:37196024-37196024 + TCGA-BS-A0UV-01 COSM1030597 c.5884G>A p.E1962K Substitution - Missense 21:37200265-37200265 + TCGA-KK-A6E3-01 COSM4877812 c.1647A>C p.I549I Substitution - coding silent 21:37138702-37138702 + TCGA-BS-A0UF-01 COSM1030583 c.3241G>A p.E1081K Substitution - Missense 21:37164121-37164121 + PD14461a COSM5786988 c.338+9C>G p.? Unknown 21:37088355-37088355 + WA17 COSM242104 c.3578A>G p.E1193G Substitution - Missense 21:37165792-37165792 + TCGA-G3-A25S-01 COSM1616055 c.2998C>T p.R1000C Substitution - Missense 21:37159704-37159704 + TCGA-CA-6718-01 COSM1414026 c.2306A>C p.K769T Substitution - Missense 21:37151922-37151922 + HCC83T COSM3708047 c.3705G>T p.V1235V Substitution - coding silent 21:37165919-37165919 + OSCC-GB_01040111 COSM4886185 c.2079G>A p.K693K Substitution - coding silent 21:37148608-37148608 + 4436_PT COSM5755674 c.2435G>A p.R812H Substitution - Missense 21:37152972-37152972 + TCGA-FW-A3R5-06 COSM3912074 c.1792C>T p.H598Y Substitution - Missense 21:37144544-37144544 + B5 COSM253873 c.5156C>T p.S1719F Substitution - Missense 21:37192152-37192152 + LUAD-YINHD COSM350258 c.1102G>A p.E368K Substitution - Missense 21:37123021-37123021 + TCGA-18-3410-01 COSM725190 c.35C>A p.A12E Substitution - Missense 21:37087292-37087292 + T155 COSM1176679 c.971A>C p.K324T Substitution - Missense 21:37121887-37121887 + BD121T COSM5515773 c.3036A>G p.A1012A Substitution - coding silent 21:37159742-37159742 + 8061176 COSM3389995 c.1015C>A p.L339I Substitution - Missense 21:37121931-37121931 + C086 COSM5541007 c.322C>T p.P108S Substitution - Missense 21:37088330-37088330 + 35 COSM4172267 c.2980T>G p.F994V Substitution - Missense 21:37156894-37156894 + 2951_PT COSM5755658 c.793T>C p.Y265H Substitution - Missense 21:37096591-37096591 + Pat_53_B COSM5858602 c.3538delA p.R1182fs*10 Deletion - Frameshift 21:37165752-37165752 + DLD1 COSM1681961 c.5857G>T p.G1953C Substitution - Missense 21:37200238-37200238 + HCC082T COSM5816302 c.4884G>A p.E1628E Substitution - coding silent 21:37187106-37187106 + HCT15 COSM2844844 c.1804G>A p.A602T Substitution - Missense 21:37144556-37144556 + SNUH_G76_S1 COSM4417929 c.3502T>C p.C1168R Substitution - Missense 21:37165716-37165716 + TCGA-BR-8591-01 COSM4101514 c.4077T>C p.Y1359Y Substitution - coding silent 21:37166291-37166291 + 2292383 COSM1288686 c.4925T>G p.V1642G Substitution - Missense 21:37188496-37188496 + TCGA-EE-A2GI-06 COSM3550595 c.2596C>T p.L866L Substitution - coding silent 21:37153133-37153133 + pfg212T COSM111630 c.2327delA p.E779fs*5 Deletion - Frameshift 21:37151943-37151943 + TCGA-IR-A3LF-01 COSM4849528 c.2242C>T p.P748S Substitution - Missense 21:37150850-37150850 + TCGA-AM-5821-01 COSM3758872 c.5550C>T p.H1850H Substitution - coding silent 21:37196007-37196007 + CSCC-20-T COSM4500684 c.5713C>T p.P1905S Substitution - Missense 21:37197888-37197888 + LUAD-NYU1026 COSM368318 c.558A>C p.S186S Substitution - coding silent 21:37091370-37091370 + TCGA-EA-A6QX-01 COSM4828733 c.1395G>A p.K465K Substitution - coding silent 21:37132718-37132718 + TCGA-B6-A40C-01 COSM4391330 c.5686G>A p.D1896N Substitution - Missense 21:37197676-37197676 + B5 COSM253874 c.5174C>G p.S1725C Substitution - Missense 21:37192170-37192170 + PD4912a COSM1636749 c.567T>G p.N189K Substitution - Missense 21:37091379-37091379 + TCGA-AA-A00N-01 COSM277871 c.3176G>A p.R1059Q Substitution - Missense 21:37164056-37164056 + ESCC_22 COSM5626376 c.4156_4157insA p.H1388fs*6 Insertion - Frameshift 21:37166370-37166371 + TCGA-D1-A16X-01 COSM1030579 c.2588G>T p.R863I Substitution - Missense 21:37153125-37153125 + 2290929 COSM4440617 c.5753delC p.V1920fs*1 Deletion - Frameshift 21:37197928-37197928 + TCGA-BR-4292-01 COSM4101501 c.1239G>A p.A413A Substitution - coding silent 21:37126085-37126085 + PD4844a COSM5771499 c.4402G>C p.V1468L Substitution - Missense 21:37167555-37167555 + TCGA-CG-5726-01 COSM4101517 c.4645C>T p.L1549F Substitution - Missense 21:37182801-37182801 + TCGA-AM-5821-01 COSM3758869 c.2519T>C p.M840T Substitution - Missense 21:37153056-37153056 + 5853_PT COSM5755664 c.1148C>G p.T383S Substitution - Missense 21:37124657-37124657 + MO_1012 COSM5556917 c.462T>G p.I154M Substitution - Missense 21:37090268-37090268 + T578 COSM4737148 c.812G>A p.R271Q Substitution - Missense 21:37096610-37096610 + TCGA-B5-A11E-01 COSM1030567 c.770C>T p.A257V Substitution - Missense 21:37095432-37095432 + HCC154T COSM3708040 c.1064G>A p.G355D Substitution - Missense 21:37122983-37122983 + TCGA-D9-A6EC-06 COSM4403218 c.2522T>G p.L841R Substitution - Missense 21:37153059-37153059 + TCGA-KK-A59V-01 COSM3423947 c.247G>A p.D83N Substitution - Missense 21:37088255-37088255 + TCGA-ER-A19M-06 COSM3550584 c.709A>T p.K237* Substitution - Nonsense 21:37095371-37095371 + SNUH_G76_S1 COSM3758872 c.5550C>T p.H1850H Substitution - coding silent 21:37196007-37196007 + cSCCP7 COSM140285 c.3668T>C p.V1223A Substitution - Missense 21:37165882-37165882 + TCGA-DY-A1DC-01 COSM1566069 c.2615A>T p.Y872F Substitution - Missense 21:37153152-37153152 + HCT-15 COSM1681961 c.5857G>T p.G1953C Substitution - Missense 21:37200238-37200238 + TCGA-B5-A0K2-01 COSM286063 c.5995C>T p.R1999C Substitution - Missense 21:37201491-37201491 + TCGA-ER-A194-01 COSM3550609 c.4824C>T p.I1608I Substitution - coding silent 21:37185772-37185772 + pfg014T COSM1641459 c.1965G>A p.K655K Substitution - coding silent 21:37147552-37147552 + B24 COSM1751630 c.2365G>C p.E789Q Substitution - Missense 21:37151981-37151981 + 4989_PT COSM5755662 c.1081G>A p.D361N Substitution - Missense 21:37123000-37123000 + BN03 COSM3708048 c.5475G>A p.K1825K Substitution - coding silent 21:37195932-37195932 + CN-AML-CR-62-Dx COSM3933954 c.5115G>A p.K1705K Substitution - coding silent 21:37191424-37191424 + TCGA-D1-A103-01 COSM1030568 c.782G>T p.R261I Substitution - Missense 21:37095444-37095444 + SA214 COSM213992 c.3716C>A p.P1239H Substitution - Missense 21:37165930-37165930 + TARGET-30-PATDWN COSM1288686 c.4925T>G p.V1642G Substitution - Missense 21:37188496-37188496 + TCGA-AX-A0J1-01 COSM1030588 c.3601G>A p.V1201I Substitution - Missense 21:37165815-37165815 + TCGA-AN-A0XW-01 COSM444435 c.1788C>T p.L596L Substitution - coding silent 21:37144540-37144540 + TCGA-UB-A7MB-01 COSM4931167 c.4700A>T p.Q1567L Substitution - Missense 21:37182856-37182856 + 587376 COSM1230804 c.477A>C p.E159D Substitution - Missense 21:37090283-37090283 + I-01 COSM4767100 c.4861G>C p.E1621Q Substitution - Missense 21:37187083-37187083 + P-Thy003 COSM1288686 c.4925T>G p.V1642G Substitution - Missense 21:37188496-37188496 + ESO-718 COSM1268841 c.1A>G p.M1V Substitution - Missense 21:37087258-37087258 + HCC113 COSM3708046 c.3059A>G p.K1020R Substitution - Missense 21:37160821-37160821 + 855_PT COSM5755666 c.1370C>A p.P457Q Substitution - Missense 21:37132693-37132693 + TCGA-CG-5732-01 COSM4101512 c.3577G>C p.E1193Q Substitution - Missense 21:37165791-37165791 + CSCC-7-T COSM4487414 c.3188C>G p.S1063C Substitution - Missense 21:37164068-37164068 + 6 COSM1237249 c.5576A>G p.N1859S Substitution - Missense 21:37196033-37196033 + CPCG0248-F1 COSM4881033 c.1502T>C p.L501S Substitution - Missense 21:37135438-37135438 + HCC162 COSM3708042 c.1521C>T p.R507R Substitution - coding silent 21:37135457-37135457 + 2175 COSM4296123 c.6010G>A p.E2004K Substitution - Missense 21:37201506-37201506 + TCGA-AG-3892-01 COSM258265 c.2233G>T p.E745* Substitution - Nonsense 21:37150841-37150841 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.368206;Hs.368214 21q22.2 602259

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAGT - SpliceDonorDeletion . c.2211+5_2211+8delGTAA 21 38522469 STAD A C Missense p.E594A c.1781A>C 21 38516833 HNSC A C Synonymous p.I549I c.1647A>C 21 38511002 PRAD A - Frameshift p.E779Kfs*5 c.2334delA 21 38524243 OV A - Frameshift p.E779Kfs*5 c.2334delA 21 38524243 STAD - A Frameshift p.E779Rfs*18 c.2334dupA 21 38524243 ESCA A - Frameshift p.K1024Rfs*12 c.3071delA 21 38533134 MM A G CdsStartSNV . c.1A>G 21 38459558 ESCA A G IntronicSNV . c.845+121A>G 21 38469064 CM A G IntronicSNV . c.845+1326A>G 21 38470269 HC A G Missense p.H1850R c.5549A>G 21 38568307 SCLC A G Missense p.I398V c.1192A>G 21 38497001 OV A G Missense p.I89V c.265A>G 21 38460573 LUSC A G Synonymous p.K1901K c.5703A>G 21 38569994 CM A T Missense p.K1289M c.3866A>T 21 38538382 BRCA A T Missense p.N800I c.2399A>T 21 38524315 CM A T Missense p.T1764S c.5290A>T 21 38568048 BLCA A T Synonymous p.A1149A c.3447A>T 21 38537963 LUAD C A Missense p.A12E c.35C>A 21 38459592 LUSC C A Missense p.H1312N c.3934C>A 21 38538450 LUAD C A Missense p.P1239H c.3716C>A 21 38538232 BRCA C A Missense p.P1296T c.3886C>A 21 38538402 STAD C A Missense p.P798H c.2393C>A 21 38524309 BRCA C A Missense p.P963T c.2887C>A 21 38529103 BRCA C A Synonymous p.P1351P c.4053C>A 21 38538569 CM CC AG Missense p.P570S c.1708_1709delinsAG 21 38512909 CM CC TT Missense p.P1271L c.3812_3813delinsTT 21 38538328 CM C - Frameshift p.I650Ffs*17 c.1947delC 21 38519833 LUSC C G Missense p.F993L c.2979C>G 21 38529195 UCEC C G Missense p.H1121D c.3361C>G 21 38537877 OV C G Missense p.H688D c.2062C>G 21 38520891 HNSC C G Missense p.I252M c.756C>G 21 38467718 HNSC C G Missense p.P1856R c.5567C>G 21 38568325 LUSC C G Missense p.R970G c.2908C>G 21 38529124 CM C G Synonymous p.S476S c.1428C>G 21 38505051 HNSC C G Synonymous p.V1274V c.3822C>G 21 38538338 HNSC C T IntronicSNV . c.2740+729C>T 21 38526306 CLL C T IntronicSNV . c.846-8C>T 21 38480684 CM C T Missense p.A416V c.1247C>T 21 38498393 OV C T Missense p.A828V c.2483C>T 21 38525320 ESCA C T Missense p.H425Y c.1273C>T 21 38498419 HNSC C T Missense p.H425Y c.1273C>T 21 38498419 LUAD C T Missense p.L1549F c.4645C>T 21 38555103 STAD C T Missense p.P108L c.323C>T 21 38460631 CM C T Missense p.P1230S c.3688C>T 21 38538204 BLCA C T Missense p.P1256S c.3766C>T 21 38538282 CM C T Missense p.P1746S c.5236C>T 21 38567994 HNSC C T Missense p.P570S c.1708C>T 21 38512909 CM C T Missense p.R1177W c.3529C>T 21 38538045 LUAD C T Missense p.R1999C c.5995C>T 21 38573792 UCEC C T Missense p.S1052L c.3155C>T 21 38534350 CM C T Missense p.S1241F c.3722C>T 21 38538238 CM C T Missense p.S1295F c.3884C>T 21 38538400 CM C T Missense p.S1956F c.5867C>T 21 38572549 CM C T Missense p.T1802I c.5405C>T 21 38568163 CM C T Nonsense p.R1488* c.4462C>T 21 38539917 UCEC C T Nonsense p.R445* c.1333C>T 21 38501338 CM C T Synonymous p.A558A c.1674C>T 21 38512875 LUSC C T Synonymous p.F1855F c.5565C>T 21 38568323 CM C T Synonymous p.I1608I c.4824C>T 21 38558073 CM C T Synonymous p.L596L c.1788C>T 21 38516840 BRCA C T Synonymous p.L866L c.2596C>T 21 38525433 CM C T Synonymous p.N518N c.1554C>T 21 38507790 UCEC C T Synonymous p.P1271P c.3813C>T 21 38538329 CM C T Synonymous p.P798P c.2394C>T 21 38524310 CM C T Synonymous p.S1258S c.3774C>T 21 38538290 AML C T Synonymous p.S1991S c.5973C>T 21 38573770 LUSC G A Missense p.C306Y c.917G>A 21 38494133 UCEC G A Missense p.D648N c.1942G>A 21 38519829 CM G A Missense p.D668N c.2002G>A 21 38519889 BLCA G A Missense p.D670N c.2008G>A 21 38519895 SCLC G A Missense p.D950N c.2848G>A 21 38529064 CM G A Missense p.E314K c.940G>A 21 38494156 STAD G A Missense p.G231E c.692G>A 21 38467654 CM G A Missense p.R1290Q c.3869G>A 21 38538385 UCEC G A Missense p.R863K c.2588G>A 21 38525425 BRCA G A Missense p.S1088N c.3263G>A 21 38536445 THCA G A Missense p.V1257I c.3769G>A 21 38538285 UCEC G A Synonymous p.A413A c.1239G>A 21 38498385 STAD G A Synonymous p.E1486E c.4458G>A 21 38539913 CM G A Synonymous p.K123K c.369G>A 21 38461129 BLCA G A Synonymous p.K655K c.1965G>A 21 38519852 STAD G C Missense p.E1193Q c.3577G>C 21 38538093 STAD G C Missense p.E1743D c.5229G>C 21 38567987 BRCA G C Missense p.R863T c.2588G>C 21 38525425 HNSC G C Missense p.V1580L c.4738G>C 21 38555196 CM G C Synonymous p.L169L c.507G>C 21 38463619 BLCA G C Synonymous p.V612V c.1836G>C 21 38516888 CM GTATATG - Frameshift p.I69Vfs*17 c.205_211delATATGGT 21 38460511 RCCC G T Missense p.G519C c.1555G>T 21 38507791 LUAD G T Missense p.L1342F c.4026G>T 21 38538542 BRCA G T Missense p.R1143L c.3428G>T 21 38537944 LUAD G T Missense p.R1143L c.3428G>T 21 38537944 SCLC G T Missense p.S34I c.101G>T 21 38459658 LUAD - TAA IntronicInsertion . c.1063+466_1063+468dupATA 21 38494745 CLL T A Missense p.I525K c.1574T>A 21 38507810 CM T A Missense p.S1469T c.4405T>A 21 38539860 RCCC T A Synonymous p.P21P c.63T>A 21 38459620 LUSC TC GT Missense p.S1733V c.5197_5198delinsGT 21 38564494 CM T C SpliceDonorSNV . c.1659+2T>C 21 38511016 CM T C Synonymous p.N189N c.567T>C 21 38463679 UCEC T G Missense p.C1857W c.5571T>G 21 38568329 CM T G Missense p.I350R c.1049T>G 21 38494265 BRCA T G Missense p.L1083R c.3248T>G 21 38536430 LGG T - IntronicDeletion . c.188-8delT 21 38460480 STAD