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 23 53989324 53989324 + Missense_Mutation SNP C C T TCGA-K4-A5RJ-01A-11D-A289-08 TCGA-K4-A5RJ-10A-01D-A289-08 g.chrX:53989324C>T c.2600G>A c.(2599-2601)cGa>cAa p.R867Q BLCA 23 54012300 54012300 + Missense_Mutation SNP T T C TCGA-FD-A62O-01A-11D-A30E-08 TCGA-FD-A62O-10A-01D-A30H-08 g.chrX:54012300T>C c.2186A>G c.(2185-2187)gAt>gGt p.D729G BLCA 23 54014218 54014218 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chrX:54014218C>T c.1998G>A c.(1996-1998)gcG>gcA p.A666A BLCA 23 54019226 54019226 + Missense_Mutation SNP G G A TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chrX:54019226G>A c.1781C>T c.(1780-1782)cCa>cTa p.P594L BLCA 23 54022189 54022189 + Silent SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 g.chrX:54022189G>A c.1368C>T c.(1366-1368)atC>atT p.I456I BLCA 23 54037669 54037669 + Missense_Mutation SNP G G C TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chrX:54037669G>C c.940C>G c.(940-942)Ctc>Gtc p.L314V BLCA 23 54037673 54037673 + Silent SNP C C G TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chrX:54037673C>G c.936G>C c.(934-936)ctG>ctC p.L312L BLCA 23 54048789 54048789 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 g.chrX:54048789G>A c.304C>T c.(304-306)Cgt>Tgt p.R102C BLCA 23 54069088 54069088 + Missense_Mutation SNP A A T TCGA-DK-AA77-01A-11D-A391-08 TCGA-DK-AA77-10A-01D-A394-08 g.chrX:54069088A>T c.182T>A c.(181-183)aTg>aAg p.M61K BLCA 23 54069201 54069201 + Silent SNP C C G TCGA-BT-A2LA-01A-11D-A18F-08 TCGA-BT-A2LA-11A-11D-A18F-08 g.chrX:54069201C>G c.69G>C c.(67-69)acG>acC p.T23T BRCA 23 53966665 53966665 + Silent SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chrX:53966665G>A c.3042C>T c.(3040-3042)ttC>ttT p.F1014F BRCA 23 53966853 53966853 + Missense_Mutation SNP T T A TCGA-GI-A2C8-01A-11D-A16D-09 TCGA-GI-A2C8-11A-22D-A16D-09 g.chrX:53966853T>A c.2854A>T c.(2854-2856)Aca>Tca p.T952S BRCA 23 53966871 53966871 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chrX:53966871C>T c.2836G>A c.(2836-2838)Gac>Aac p.D946N BRCA 23 54012304 54012304 + Missense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chrX:54012304G>T c.2182C>A c.(2182-2184)Ctt>Att p.L728I BRCA 23 54014274 54014274 + Missense_Mutation SNP C C G TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 g.chrX:54014274C>G c.1942G>C c.(1942-1944)Gac>Cac p.D648H BRCA 23 54020123 54020123 + Missense_Mutation SNP C C T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 g.chrX:54020123C>T c.1645G>A c.(1645-1647)Gcc>Acc p.A549T BRCA 23 54020225 54020225 + Missense_Mutation SNP T T C TCGA-E9-A3Q9-01A-11D-A21Q-09 TCGA-E9-A3Q9-10A-01D-A21Q-09 g.chrX:54020225T>C c.1543A>G c.(1543-1545)Atg>Gtg p.M515V BRCA 23 54026388 54026388 + Missense_Mutation SNP C C T TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 g.chrX:54026388C>T c.1256G>A c.(1255-1257)cGa>cAa p.R419Q BRCA 23 54028588 54028588 + Splice_Site SNP C C T TCGA-D8-A145-01A-11D-A10Y-09 TCGA-D8-A145-10A-01D-A110-09 g.chrX:54028588C>T c.1249G>A c.(1249-1251)Ggt>Agt p.G417S BRCA 23 54029058 54029059 + Frame_Shift_Del DEL AA AA - TCGA-AQ-A04L-01B-21D-A10M-09 TCGA-AQ-A04L-10A-01D-A12J-09 g.chrX:54029058_54029059delAA c.1111_1112delTT c.(1111-1113)ttafs p.L371fs BRCA 23 54037619 54037619 + Silent SNP C C T TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chrX:54037619C>T c.990G>A c.(988-990)ggG>ggA p.G330G BRCA 23 54043158 54043158 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chrX:54043158C>G c.574G>C c.(574-576)Gag>Cag p.E192Q BRCA 23 54044120 54044120 + Missense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chrX:54044120G>T c.536C>A c.(535-537)aCt>aAt p.T179N BRCA 23 54069105 54069105 + Silent SNP G G A TCGA-BH-A0AW-01A-11W-A071-09 TCGA-BH-A0AW-10A-01W-A071-09 g.chrX:54069105G>A c.165C>T c.(163-165)ttC>ttT p.F55F BRCA 23 54069225 54069225 + Silent SNP C C T TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 g.chrX:54069225C>T c.45G>A c.(43-45)ccG>ccA p.P15P CESC 23 53966697 53966697 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chrX:53966697G>A c.3010C>T c.(3010-3012)Cgc>Tgc p.R1004C CESC 23 54011586 54011586 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chrX:54011586G>A c.2312C>T c.(2311-2313)tCg>tTg p.S771L CESC 23 54022194 54022194 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 g.chrX:54022194C>T c.1363G>A c.(1363-1365)Gag>Aag p.E455K CESC 23 54022200 54022200 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 g.chrX:54022200C>T c.1357G>A c.(1357-1359)Gag>Aag p.E453K CESC 23 54040926 54040926 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 g.chrX:54040926C>T c.775G>A c.(775-777)Gaa>Aaa p.E259K CESC 23 54048782 54048782 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 g.chrX:54048782G>A c.311C>T c.(310-312)tCt>tTt p.S104F COAD 23 54011433 54011433 + Missense_Mutation SNP C C A TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chrX:54011433C>A c.2465G>T c.(2464-2466)tGg>tTg p.W822L COAD 23 54011472 54011472 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chrX:54011472C>T c.2426G>A c.(2425-2427)cGc>cAc p.R809H COAD 23 54011660 54011660 + Splice_Site SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chrX:54011660G>A c.2238C>T c.(2236-2238)acC>acT p.T746T COAD 23 54012270 54012270 + Frame_Shift_Del DEL C C - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chrX:54012270delC c.2216delG c.(2215-2217)ggafs p.G739fs COAD 23 54013588 54013588 + Missense_Mutation SNP G G A TCGA-AA-3696-01A-01W-0900-09 TCGA-AA-3696-10A-01W-0900-09 g.chrX:54013588G>A c.2026C>T c.(2026-2028)Cgg>Tgg p.R676W COAD 23 54014375 54014375 + Missense_Mutation SNP G G A TCGA-DM-A0XF-01A-11D-A152-10 TCGA-DM-A0XF-10A-01D-A152-10 g.chrX:54014375G>A c.1841C>T c.(1840-1842)aCg>aTg p.T614M COAD 23 54019233 54019233 + Missense_Mutation SNP C C A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chrX:54019233C>A c.1774G>T c.(1774-1776)Gac>Tac p.D592Y COAD 23 54022170 54022170 + Missense_Mutation SNP C C T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chrX:54022170C>T c.1387G>A c.(1387-1389)Gta>Ata p.V463I COAD 23 54028603 54028603 + Missense_Mutation SNP G G T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chrX:54028603G>T c.1234C>A c.(1234-1236)Ctg>Atg p.L412M COAD 23 54040973 54040973 + Missense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chrX:54040973G>A c.728C>T c.(727-729)cCg>cTg p.P243L COAD 23 54048789 54048789 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chrX:54048789G>A c.304C>T c.(304-306)Cgt>Tgt p.R102C COAD 23 54049273 54049273 + Silent SNP A A G TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chrX:54049273A>G c.210T>C c.(208-210)tgT>tgC p.C70C COAD 23 54069084 54069084 + Silent SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chrX:54069084G>A c.186C>T c.(184-186)tgC>tgT p.C62C COAD 23 54069222 54069222 + Silent SNP A A G TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chrX:54069222A>G c.48T>C c.(46-48)ccT>ccC p.P16P COADREAD 23 54011433 54011433 + Missense_Mutation SNP C C A TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chrX:54011433C>A c.2465G>T c.(2464-2466)tGg>tTg p.W822L COADREAD 23 54011472 54011472 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chrX:54011472C>T c.2426G>A c.(2425-2427)cGc>cAc p.R809H COADREAD 23 54011660 54011660 + Splice_Site SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chrX:54011660G>A c.2238C>T c.(2236-2238)acC>acT p.T746T COADREAD 23 54012270 54012270 + Frame_Shift_Del DEL C C - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chrX:54012270delC c.2216delG c.(2215-2217)ggafs p.G739fs COADREAD 23 54013588 54013588 + Missense_Mutation SNP G G A TCGA-AA-3696-01A-01W-0900-09 TCGA-AA-3696-10A-01W-0900-09 g.chrX:54013588G>A c.2026C>T c.(2026-2028)Cgg>Tgg p.R676W COADREAD 23 54014375 54014375 + Missense_Mutation SNP G G A TCGA-DM-A0XF-01A-11D-A152-10 TCGA-DM-A0XF-10A-01D-A152-10 g.chrX:54014375G>A c.1841C>T c.(1840-1842)aCg>aTg p.T614M COADREAD 23 54019233 54019233 + Missense_Mutation SNP C C A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chrX:54019233C>A c.1774G>T c.(1774-1776)Gac>Tac p.D592Y COADREAD 23 54022170 54022170 + Missense_Mutation SNP C C T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chrX:54022170C>T c.1387G>A c.(1387-1389)Gta>Ata p.V463I COADREAD 23 54028603 54028603 + Missense_Mutation SNP G G T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chrX:54028603G>T c.1234C>A c.(1234-1236)Ctg>Atg p.L412M COADREAD 23 54040961 54040961 + Missense_Mutation SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chrX:54040961C>T c.740G>A c.(739-741)cGa>cAa p.R247Q COADREAD 23 54040973 54040973 + Missense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chrX:54040973G>A c.728C>T c.(727-729)cCg>cTg p.P243L COADREAD 23 54048789 54048789 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chrX:54048789G>A c.304C>T c.(304-306)Cgt>Tgt p.R102C COADREAD 23 54049273 54049273 + Silent SNP A A G TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chrX:54049273A>G c.210T>C c.(208-210)tgT>tgC p.C70C COADREAD 23 54069084 54069084 + Silent SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chrX:54069084G>A c.186C>T c.(184-186)tgC>tgT p.C62C COADREAD 23 54069222 54069222 + Silent SNP A A G TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chrX:54069222A>G c.48T>C c.(46-48)ccT>ccC p.P16P ESCA 23 53970565 53970565 + Splice_Site SNP A A C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 g.chrX:53970565A>C c.e20+1 ESCA 23 54022145 54022145 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 g.chrX:54022145C>T c.1412G>A c.(1411-1413)aGg>aAg p.R471K ESCA 23 54040940 54040940 + Missense_Mutation SNP T T C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 g.chrX:54040940T>C c.761A>G c.(760-762)aAc>aGc p.N254S ESCA 23 54040952 54040952 + Nonsense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 g.chrX:54040952G>T c.749C>A c.(748-750)tCa>tAa p.S250* ESCA 23 54069146 54069146 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 g.chrX:54069146C>T c.124G>A c.(124-126)Gtg>Atg p.V42M GBM 23 53970579 53970579 + Silent SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 g.chrX:53970579C>T c.2745G>A c.(2743-2745)aaG>aaA p.K915K GBM 23 54037681 54037681 + Missense_Mutation SNP C C G TCGA-28-5207-01A-01D-1486-08 TCGA-28-5207-10A-01D-1486-08 g.chrX:54037681C>G c.928G>C c.(928-930)Gcc>Ccc p.A310P GBMLGG 23 53965633 53965633 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:53965633G>A c.3141C>T c.(3139-3141)ggC>ggT p.G1047G GBMLGG 23 53965658 53965658 + Missense_Mutation SNP A A G TCGA-QH-A6CW-01A-11D-A32B-08 TCGA-QH-A6CW-10B-01D-A329-08 g.chrX:53965658A>G c.3116T>C c.(3115-3117)cTg>cCg p.L1039P GBMLGG 23 53966856 53966856 + Missense_Mutation SNP G G C TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 g.chrX:53966856G>C c.2851C>G c.(2851-2853)Ctg>Gtg p.L951V GBMLGG 23 53970579 53970579 + Silent SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 g.chrX:53970579C>T c.2745G>A c.(2743-2745)aaG>aaA p.K915K GBMLGG 23 54011402 54011402 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:54011402G>A c.2496C>T c.(2494-2496)aaC>aaT p.N832N GBMLGG 23 54012203 54012203 + Intron SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:54012203T>C GBMLGG 23 54037681 54037681 + Missense_Mutation SNP C C G TCGA-28-5207-01A-01D-1486-08 TCGA-28-5207-10A-01D-1486-08 g.chrX:54037681C>G c.928G>C c.(928-930)Gcc>Ccc p.A310P HNSC 23 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-BA-A6DI-01A-11D-A30E-08 TCGA-BA-A6DI-10A-01D-A30H-08 g.chrX:54011405_54011407delCTC c.2491_2493delGAG c.(2491-2493)gagdel p.E831del HNSC 23 54014374 54014374 + Silent SNP C C T TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 g.chrX:54014374C>T c.1842G>A c.(1840-1842)acG>acA p.T614T KICH 23 54012317 54012317 + Silent SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chrX:54012317G>A c.2169C>T c.(2167-2169)ggC>ggT p.G723G KICH 23 54049206 54049206 + Missense_Mutation SNP G G T TCGA-KL-8323-01A-21D-2310-10 TCGA-KL-8323-11A-01D-2310-10 g.chrX:54049206G>T c.277C>A c.(277-279)Cat>Aat p.H93N KIPAN 23 54012317 54012317 + Silent SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chrX:54012317G>A c.2169C>T c.(2167-2169)ggC>ggT p.G723G KIPAN 23 54019191 54019191 + Missense_Mutation SNP C C A TCGA-B8-4154-01A-01D-1251-10 TCGA-B8-4154-11A-01D-1251-10 g.chrX:54019191C>A c.1816G>T c.(1816-1818)Gcc>Tcc p.A606S KIPAN 23 54043171 54043171 + Splice_Site SNP T T C TCGA-B0-5400-01A-01D-1501-10 TCGA-B0-5400-11A-01D-1501-10 g.chrX:54043171T>C c.e6-2 KIPAN 23 54044120 54044120 + Missense_Mutation SNP G G T TCGA-B2-5641-01A-01D-1534-10 TCGA-B2-5641-10A-01D-1535-10 g.chrX:54044120G>T c.536C>A c.(535-537)aCt>aAt p.T179N KIPAN 23 54048718 54048718 + Silent SNP T T C TCGA-BP-4998-01A-01D-1462-08 TCGA-BP-4998-11A-01D-1462-08 g.chrX:54048718T>C c.375A>G c.(373-375)agA>agG p.R125R KIPAN 23 54049206 54049206 + Missense_Mutation SNP G G T TCGA-KL-8323-01A-21D-2310-10 TCGA-KL-8323-11A-01D-2310-10 g.chrX:54049206G>T c.277C>A c.(277-279)Cat>Aat p.H93N KIRC 23 54019191 54019191 + Missense_Mutation SNP C C A TCGA-B8-4154-01A-01D-1251-10 TCGA-B8-4154-11A-01D-1251-10 g.chrX:54019191C>A c.1816G>T c.(1816-1818)Gcc>Tcc p.A606S KIRC 23 54043171 54043171 + Splice_Site SNP T T C TCGA-B0-5400-01A-01D-1501-10 TCGA-B0-5400-11A-01D-1501-10 g.chrX:54043171T>C c.e6-2 KIRC 23 54044120 54044120 + Missense_Mutation SNP G G T TCGA-B2-5641-01A-01D-1534-10 TCGA-B2-5641-10A-01D-1535-10 g.chrX:54044120G>T c.536C>A c.(535-537)aCt>aAt p.T179N KIRC 23 54048718 54048718 + Silent SNP T T C TCGA-BP-4998-01A-01D-1462-08 TCGA-BP-4998-11A-01D-1462-08 g.chrX:54048718T>C c.375A>G c.(373-375)agA>agG p.R125R LGG 23 53965633 53965633 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:53965633G>A c.3141C>T c.(3139-3141)ggC>ggT p.G1047G LGG 23 53965658 53965658 + Missense_Mutation SNP A A G TCGA-QH-A6CW-01A-11D-A32B-08 TCGA-QH-A6CW-10B-01D-A329-08 g.chrX:53965658A>G c.3116T>C c.(3115-3117)cTg>cCg p.L1039P LGG 23 53966856 53966856 + Missense_Mutation SNP G G C TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 g.chrX:53966856G>C c.2851C>G c.(2851-2853)Ctg>Gtg p.L951V LGG 23 54011402 54011402 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:54011402G>A c.2496C>T c.(2494-2496)aaC>aaT p.N832N LGG 23 54012203 54012203 + Intron SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:54012203T>C LIHC 23 54011486 54011486 + Silent SNP A A G TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chrX:54011486A>G c.2412T>C c.(2410-2412)agT>agC p.S804S LIHC 23 54013589 54013589 + Silent SNP G G A TCGA-CC-A8HU-01A-11D-A35Z-10 TCGA-CC-A8HU-10A-01D-A35Z-10 g.chrX:54013589G>A c.2025C>T c.(2023-2025)ccC>ccT p.P675P LIHC 23 54022132 54022132 + Silent SNP C C T TCGA-DD-A4NF-01A-11D-A27I-10 TCGA-DD-A4NF-10A-01D-A27I-10 g.chrX:54022132C>T c.1425G>A c.(1423-1425)ctG>ctA p.L475L LIHC 23 54044138 54044138 + Missense_Mutation SNP A A C TCGA-DD-A3A4-01A-11D-A22F-10 TCGA-DD-A3A4-11A-11D-A22F-10 g.chrX:54044138A>C c.518T>G c.(517-519)cTg>cGg p.L173R LUAD 23 53970627 53970627 + Silent SNP C C A TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chrX:53970627C>A c.2697G>T c.(2695-2697)ggG>ggT p.G899G LUAD 23 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-55-8619-01A-11D-2393-08 TCGA-55-8619-10A-01D-2393-08 g.chrX:54011405_54011407delCTC c.2491_2493delGAG c.(2491-2493)gagdel p.E831del LUAD 23 54011445 54011445 + Missense_Mutation SNP C C T TCGA-44-A4SU-01A-11D-A24P-08 TCGA-44-A4SU-10A-01D-A24P-08 g.chrX:54011445C>T c.2453G>A c.(2452-2454)cGg>cAg p.R818Q LUAD 23 54011568 54011568 + Missense_Mutation SNP G G C TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chrX:54011568G>C c.2330C>G c.(2329-2331)tCt>tGt p.S777C LUAD 23 54012259 54012259 + Missense_Mutation SNP C C A TCGA-MP-A4TK-01A-11D-A24P-08 TCGA-MP-A4TK-10A-01D-A24P-08 g.chrX:54012259C>A c.2227G>T c.(2227-2229)Gct>Tct p.A743S LUAD 23 54020143 54020143 + Missense_Mutation SNP C C A TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chrX:54020143C>A c.1625G>T c.(1624-1626)cGa>cTa p.R542L LUAD 23 54020195 54020195 + Missense_Mutation SNP C C T TCGA-05-5428-01A-01D-1625-08 TCGA-05-5428-10A-01D-1625-08 g.chrX:54020195C>T c.1573G>A c.(1573-1575)Ggt>Agt p.G525S LUAD 23 54028636 54028636 + Missense_Mutation SNP C C G TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chrX:54028636C>G c.1201G>C c.(1201-1203)Gag>Cag p.E401Q LUAD 23 54029093 54029093 + Silent SNP C C A TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chrX:54029093C>A c.1077G>T c.(1075-1077)acG>acT p.T359T LUAD 23 54029107 54029107 + Missense_Mutation SNP G G A TCGA-44-3396-01A-01D-1553-08 TCGA-44-3396-10A-01D-1265-08 g.chrX:54029107G>A c.1063C>T c.(1063-1065)Cat>Tat p.H355Y LUAD 23 54037583 54037583 + Frame_Shift_Del DEL C C - TCGA-55-8510-01A-11D-2393-08 TCGA-55-8510-10A-01D-2393-08 g.chrX:54037583delC c.1026delG c.(1024-1026)aagfs p.K342fs LUAD 23 54040885 54040885 + Silent SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 g.chrX:54040885G>A c.816C>T c.(814-816)ctC>ctT p.L272L LUAD 23 54040929 54040929 + Missense_Mutation SNP C C G TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chrX:54040929C>G c.772G>C c.(772-774)Gag>Cag p.E258Q LUAD 23 54044164 54044164 + Silent SNP C C T TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chrX:54044164C>T c.492G>A c.(490-492)ctG>ctA p.L164L LUAD 23 54069223 54069223 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 g.chrX:54069223G>T c.47C>A c.(46-48)cCt>cAt p.P16H LUSC 23 54012307 54012307 + Missense_Mutation SNP T T C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chrX:54012307T>C c.2179A>G c.(2179-2181)Att>Gtt p.I727V LUSC 23 54022203 54022203 + Missense_Mutation SNP G G A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 g.chrX:54022203G>A c.1354C>T c.(1354-1356)Cat>Tat p.H452Y LUSC 23 54049215 54049215 + Nonsense_Mutation SNP C C A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 g.chrX:54049215C>A c.268G>T c.(268-270)Gaa>Taa p.E90* OV 23 53966650 53966650 + Silent SNP G G A TCGA-29-2436-01A-01D-1526-09 TCGA-29-2436-10A-01D-1526-09 g.chrX:53966650G>A c.3057C>T c.(3055-3057)cgC>cgT p.R1019R OV 23 53989292 53989292 + Missense_Mutation SNP G G T TCGA-36-2548-01A-01D-1526-09 TCGA-36-2548-10A-01D-1526-09 g.chrX:53989292G>T c.2632C>A c.(2632-2634)Cca>Aca p.P878T OV 23 54011432 54011432 + Missense_Mutation SNP C C G TCGA-24-0979-01A-01W-0486-08 TCGA-24-0979-10B-01W-0486-08 g.chrX:54011432C>G c.2466G>C c.(2464-2466)tgG>tgC p.W822C OV 23 54020323 54020323 + Missense_Mutation SNP T T C TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 g.chrX:54020323T>C c.1445A>G c.(1444-1446)cAg>cGg p.Q482R OV 23 54026305 54026305 + Missense_Mutation SNP C C T TCGA-13-0886-01A-01W-0420-08 TCGA-13-0886-10A-01D-0399-08 g.chrX:54026305C>T c.1339G>A c.(1339-1341)Gaa>Aaa p.E447K OV 23 54043170 54043189 + Splice_Site DEL CTGGAGTAAAGAGATAGGTT CTGGAGTAAAGAGATAGGTT - TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 g.chrX:54043170_54043189delCTGGAGTAAAGAGATAGGTT c.e6-1 OV 23 54069219 54069219 + Silent SNP G G A TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 g.chrX:54069219G>A c.51C>T c.(49-51)ccC>ccT p.P17P PAAD 23 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 g.chrX:54011405_54011407delCTC c.2491_2493delGAG c.(2491-2493)gagdel p.E831del PAAD 23 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 g.chrX:54011405_54011407delCTC c.2491_2493delGAG c.(2491-2493)gagdel p.E831del PAAD 23 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 g.chrX:54011405_54011407delCTC c.2491_2493delGAG c.(2491-2493)gagdel p.E831del PAAD 23 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 g.chrX:54011405_54011407delCTC c.2491_2493delGAG c.(2491-2493)gagdel p.E831del PAAD 23 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 g.chrX:54011405_54011407delCTC c.2491_2493delGAG c.(2491-2493)gagdel p.E831del PAAD 23 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-HV-A7OP-01A-11D-A33T-08 TCGA-HV-A7OP-10A-01D-A33W-08 g.chrX:54011405_54011407delCTC c.2491_2493delGAG c.(2491-2493)gagdel p.E831del PAAD 23 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-IB-AAUS-01A-12D-A38G-08 TCGA-IB-AAUS-10A-01D-A38J-08 g.chrX:54011405_54011407delCTC c.2491_2493delGAG c.(2491-2493)gagdel p.E831del PAAD 23 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-LB-A7SX-01A-11D-A33T-08 TCGA-LB-A7SX-10A-01D-A33W-08 g.chrX:54011405_54011407delCTC c.2491_2493delGAG c.(2491-2493)gagdel p.E831del PAAD 23 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-OE-A75W-01A-12D-A32N-08 TCGA-OE-A75W-10A-01D-A32N-08 g.chrX:54011405_54011407delCTC c.2491_2493delGAG c.(2491-2493)gagdel p.E831del PAAD 23 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-US-A776-01A-13D-A33T-08 TCGA-US-A776-11A-11D-A33W-08 g.chrX:54011405_54011407delCTC c.2491_2493delGAG c.(2491-2493)gagdel p.E831del PAAD 23 54069187 54069187 + Missense_Mutation SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 g.chrX:54069187C>T c.83G>A c.(82-84)cGc>cAc p.R28H PRAD 23 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 g.chrX:54011405_54011407delCTC c.2491_2493delGAG c.(2491-2493)gagdel p.E831del PRAD 23 54029074 54029074 + Missense_Mutation SNP A A C TCGA-HC-7231-01A-11D-2114-08 TCGA-HC-7231-10A-01D-2115-08 g.chrX:54029074A>C c.1096T>G c.(1096-1098)Ttt>Gtt p.F366V READ 23 54040961 54040961 + Missense_Mutation SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chrX:54040961C>T c.740G>A c.(739-741)cGa>cAa p.R247Q SKCM 23 53965627 53965627 + Silent SNP G G A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chrX:53965627G>A c.3147C>T c.(3145-3147)atC>atT p.I1049I SKCM 23 53966798 53966798 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chrX:53966798G>A c.2909C>T c.(2908-2910)cCc>cTc p.P970L SKCM 23 54011532 54011532 + Missense_Mutation SNP C C T TCGA-GN-A268-06A-11D-A196-08 TCGA-GN-A268-10A-01D-A198-08 g.chrX:54011532C>T c.2366G>A c.(2365-2367)cGa>cAa p.R789Q SKCM 23 54014280 54014280 + Missense_Mutation SNP C C T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 g.chrX:54014280C>T c.1936G>A c.(1936-1938)Gaa>Aaa p.E646K SKCM 23 54014369 54014369 + Missense_Mutation SNP C C G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chrX:54014369C>G c.1847G>C c.(1846-1848)aGg>aCg p.R616T SKCM 23 54020143 54020143 + Missense_Mutation SNP C C T TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chrX:54020143C>T c.1625G>A c.(1624-1626)cGa>cAa p.R542Q SKCM 23 54020145 54020145 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 g.chrX:54020145C>T c.1623G>A c.(1621-1623)gaG>gaA p.E541E SKCM 23 54022212 54022212 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chrX:54022212G>A c.1345C>T c.(1345-1347)Ctg>Ttg p.L449L SKCM 23 54037565 54037565 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chrX:54037565G>A c.1044C>T c.(1042-1044)ttC>ttT p.F348F SKCM 23 54037695 54037695 + Missense_Mutation SNP A A G TCGA-FS-A4FD-06A-11D-A25O-08 TCGA-FS-A4FD-10B-01D-A25O-08 g.chrX:54037695A>G c.914T>C c.(913-915)aTc>aCc p.I305T SKCM 23 54048696 54048696 + Missense_Mutation SNP C C A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chrX:54048696C>A c.397G>T c.(397-399)Gac>Tac p.D133Y SKCM 23 54048724 54048724 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:54048724G>A c.369C>T c.(367-369)ttC>ttT p.F123F SKCM 23 54048724 54048724 + Silent SNP G G A TCGA-GN-A262-06A-11D-A196-08 TCGA-GN-A262-10A-01D-A198-08 g.chrX:54048724G>A c.369C>T c.(367-369)ttC>ttT p.F123F

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 X 54028691 54028691 single base substitution G T exon_variant BLCA-CN X 54028691 54028691 single base substitution G T synonymous_variant A109A 327C>A BLCA-CN X 54028691 54028691 single base substitution G T synonymous_variant A249A 747C>A BLCA-CN X 54028691 54028691 single base substitution G T synonymous_variant A26A 78C>A BLCA-CN X 54028691 54028691 single base substitution G T synonymous_variant A346A 1038C>A BLCA-CN X 54028691 54028691 single base substitution G T synonymous_variant A382A 1146C>A BLCA-US X 54022189 54022189 single base substitution G A downstream_gene_variant BLCA-US X 54022189 54022189 single base substitution G A exon_variant BLCA-US X 54022189 54022189 single base substitution G A synonymous_variant I100I 300C>T BLCA-US X 54022189 54022189 single base substitution G A synonymous_variant I183I 549C>T BLCA-US X 54022189 54022189 single base substitution G A synonymous_variant I323I 969C>T BLCA-US X 54022189 54022189 single base substitution G A synonymous_variant I420I 1260C>T BLCA-US X 54022189 54022189 single base substitution G A synonymous_variant I456I 1368C>T BLCA-US X 54022189 54022189 single base substitution G A upstream_gene_variant BLCA-US X 54048789 54048789 single base substitution G A missense_variant R102C 304C>T BLCA-US X 54048789 54048789 single base substitution G A missense_variant R66C 196C>T BLCA-US X 54048789 54048789 single base substitution G A upstream_gene_variant BRCA-EU X 53958481 53958481 single base substitution T A downstream_gene_variant BRCA-EU X 53958503 53958503 deletion of <=200bp A - downstream_gene_variant BRCA-EU X 53959160 53959160 single base substitution T A downstream_gene_variant BRCA-EU X 53959955 53959955 single base substitution G C downstream_gene_variant BRCA-EU X 53960556 53960556 single base substitution C T downstream_gene_variant BRCA-EU X 53961769 53961769 single base substitution G C downstream_gene_variant BRCA-EU X 53962236 53962247 deletion of <=200bp CTTAATAAAGAT - downstream_gene_variant BRCA-EU X 53962489 53962489 single base substitution T C downstream_gene_variant BRCA-EU X 53963182 53963182 single base substitution A G 3_prime_UTR_variant BRCA-EU X 53963182 53963182 single base substitution A G downstream_gene_variant BRCA-EU X 53964876 53964876 single base substitution G A 3_prime_UTR_variant BRCA-EU X 53964876 53964876 single base substitution G A downstream_gene_variant BRCA-EU X 53964876 53964876 single base substitution G A intron_variant BRCA-EU X 53965400 53965400 single base substitution G T 3_prime_UTR_variant BRCA-EU X 53965400 53965400 single base substitution G T downstream_gene_variant BRCA-EU X 53965400 53965400 single base substitution G T intron_variant BRCA-EU X 53967086 53967086 single base substitution G C downstream_gene_variant BRCA-EU X 53967086 53967086 single base substitution G C intron_variant BRCA-EU X 53968572 53968572 single base substitution T C downstream_gene_variant BRCA-EU X 53968572 53968572 single base substitution T C intron_variant BRCA-EU X 53969752 53969752 single base substitution T G 3_prime_UTR_variant BRCA-EU X 53969752 53969752 single base substitution T G intron_variant BRCA-EU X 53970174 53970174 single base substitution C T intron_variant BRCA-EU X 53970339 53970339 single base substitution C G intron_variant BRCA-EU X 53971283 53971283 single base substitution C A intron_variant BRCA-EU X 53971283 53971283 single base substitution C A upstream_gene_variant BRCA-EU X 53971781 53971781 single base substitution A C intron_variant BRCA-EU X 53971781 53971781 single base substitution A C upstream_gene_variant BRCA-EU X 53972492 53972492 single base substitution A C intron_variant BRCA-EU X 53972492 53972492 single base substitution A C upstream_gene_variant BRCA-EU X 53972909 53972909 single base substitution C T intron_variant BRCA-EU X 53972909 53972909 single base substitution C T upstream_gene_variant BRCA-EU X 53973116 53973116 single base substitution G C intron_variant BRCA-EU X 53973116 53973116 single base substitution G C upstream_gene_variant BRCA-EU X 53973513 53973513 single base substitution C T intron_variant BRCA-EU X 53973513 53973513 single base substitution C T upstream_gene_variant BRCA-EU X 53973969 53973969 single base substitution C T intron_variant BRCA-EU X 53973969 53973969 single base substitution C T upstream_gene_variant BRCA-EU X 53974578 53974578 deletion of <=200bp A - intron_variant BRCA-EU X 53974578 53974578 deletion of <=200bp A - upstream_gene_variant BRCA-EU X 53974681 53974681 deletion of <=200bp A - intron_variant BRCA-EU X 53974681 53974681 deletion of <=200bp A - upstream_gene_variant BRCA-EU X 53974759 53974759 single base substitution G A intron_variant BRCA-EU X 53974759 53974759 single base substitution G A upstream_gene_variant BRCA-EU X 53975057 53975057 single base substitution A T intron_variant BRCA-EU X 53975057 53975057 single base substitution A T upstream_gene_variant BRCA-EU X 53975058 53975058 single base substitution T A intron_variant BRCA-EU X 53975058 53975058 single base substitution T A upstream_gene_variant BRCA-EU X 53975128 53975128 single base substitution T C intron_variant BRCA-EU X 53975128 53975128 single base substitution T C upstream_gene_variant BRCA-EU X 53975178 53975178 single base substitution C T intron_variant BRCA-EU X 53975178 53975178 single base substitution C T upstream_gene_variant BRCA-EU X 53975548 53975548 single base substitution C A intron_variant BRCA-EU X 53975548 53975548 single base substitution C A upstream_gene_variant BRCA-EU X 53975965 53975965 single base substitution G A intron_variant BRCA-EU X 53975965 53975965 single base substitution G A upstream_gene_variant BRCA-EU X 53976813 53976813 deletion of <=200bp A - intron_variant BRCA-EU X 53976815 53976815 single base substitution A C intron_variant BRCA-EU X 53978093 53978093 single base substitution G A intron_variant BRCA-EU X 53978374 53978374 single base substitution T A intron_variant BRCA-EU X 53978734 53978734 single base substitution A T intron_variant BRCA-EU X 53981382 53981382 single base substitution A G intron_variant BRCA-EU X 53983879 53983879 single base substitution G A intron_variant BRCA-EU X 53983964 53983967 deletion of <=200bp AAAC - intron_variant BRCA-EU X 53985554 53985560 deletion of <=200bp AACTTAA - intron_variant BRCA-EU X 53985711 53985711 single base substitution C A intron_variant BRCA-EU X 53985938 53985938 single base substitution A G intron_variant BRCA-EU X 53986167 53986167 single base substitution C T intron_variant BRCA-EU X 53987142 53987142 single base substitution A T intron_variant BRCA-EU X 53987774 53987774 single base substitution C T intron_variant BRCA-EU X 53987909 53987909 single base substitution C T intron_variant BRCA-EU X 53988178 53988178 deletion of <=200bp G - intron_variant BRCA-EU X 53988588 53988588 single base substitution C G intron_variant BRCA-EU X 53989039 53989039 single base substitution C T intron_variant BRCA-EU X 53991020 53991020 single base substitution C A intron_variant BRCA-EU X 53991101 53991101 single base substitution C T intron_variant BRCA-EU X 53991734 53991734 single base substitution C T intron_variant BRCA-EU X 53991735 53991735 single base substitution A T intron_variant BRCA-EU X 53994976 53994976 single base substitution A G intron_variant BRCA-EU X 53995040 53995040 single base substitution A G intron_variant BRCA-EU X 53995171 53995171 single base substitution A T intron_variant BRCA-EU X 53995299 53995299 single base substitution G A intron_variant BRCA-EU X 53995691 53995691 deletion of <=200bp C - intron_variant BRCA-EU X 53996209 53996209 single base substitution C T intron_variant BRCA-EU X 53996398 53996398 single base substitution A T intron_variant BRCA-EU X 53996648 53996648 single base substitution C G intron_variant BRCA-EU X 53998834 53998834 single base substitution T C intron_variant BRCA-EU X 53999184 53999184 single base substitution C T intron_variant BRCA-EU X 53999674 53999674 single base substitution C T intron_variant BRCA-EU X 54000246 54000246 single base substitution G C intron_variant BRCA-EU X 54000677 54000677 single base substitution C T intron_variant BRCA-EU X 54001142 54001142 single base substitution C T intron_variant BRCA-EU X 54001564 54001564 single base substitution G C intron_variant BRCA-EU X 54001742 54001742 single base substitution T C intron_variant BRCA-EU X 54001844 54001844 single base substitution C T intron_variant BRCA-EU X 54002145 54002145 single base substitution G A intron_variant BRCA-EU X 54002224 54002224 single base substitution C A intron_variant BRCA-EU X 54003161 54003161 single base substitution G C intron_variant BRCA-EU X 54003633 54003633 single base substitution T C intron_variant BRCA-EU X 54003919 54003919 single base substitution C A intron_variant BRCA-EU X 54004669 54004669 single base substitution A G intron_variant BRCA-EU X 54006190 54006190 single base substitution A T intron_variant BRCA-EU X 54006594 54006605 deletion of <=200bp GGTATGAATACT - intron_variant BRCA-EU X 54007251 54007253 deletion of <=200bp AAG - intron_variant BRCA-EU X 54007331 54007331 single base substitution C T intron_variant BRCA-EU X 54008899 54008899 single base substitution T C intron_variant BRCA-EU X 54008915 54008915 single base substitution G T intron_variant BRCA-EU X 54009354 54009354 single base substitution C T downstream_gene_variant BRCA-EU X 54009354 54009354 single base substitution C T intron_variant BRCA-EU X 54009753 54009753 single base substitution C G downstream_gene_variant BRCA-EU X 54009753 54009753 single base substitution C G intron_variant BRCA-EU X 54010799 54010799 insertion of <=200bp - A downstream_gene_variant BRCA-EU X 54010799 54010799 insertion of <=200bp - A intron_variant BRCA-EU X 54013023 54013023 single base substitution T A downstream_gene_variant BRCA-EU X 54013023 54013023 single base substitution T A intron_variant BRCA-EU X 54013028 54013028 single base substitution T A downstream_gene_variant BRCA-EU X 54013028 54013028 single base substitution T A intron_variant BRCA-EU X 54015168 54015168 single base substitution C G downstream_gene_variant BRCA-EU X 54015168 54015168 single base substitution C G intron_variant BRCA-EU X 54015325 54015325 single base substitution C T downstream_gene_variant BRCA-EU X 54015325 54015325 single base substitution C T intron_variant BRCA-EU X 54015523 54015523 single base substitution G A downstream_gene_variant BRCA-EU X 54015523 54015523 single base substitution G A intron_variant BRCA-EU X 54015782 54015782 single base substitution C G downstream_gene_variant BRCA-EU X 54015782 54015782 single base substitution C G intron_variant BRCA-EU X 54016535 54016535 single base substitution A G downstream_gene_variant BRCA-EU X 54016535 54016535 single base substitution A G intron_variant BRCA-EU X 54016771 54016771 single base substitution C A downstream_gene_variant BRCA-EU X 54016771 54016771 single base substitution C A intron_variant BRCA-EU X 54018068 54018068 single base substitution C A downstream_gene_variant BRCA-EU X 54018068 54018068 single base substitution C A intron_variant BRCA-EU X 54020958 54020958 deletion of <=200bp A - downstream_gene_variant BRCA-EU X 54020958 54020958 deletion of <=200bp A - intron_variant BRCA-EU X 54020958 54020958 deletion of <=200bp A - upstream_gene_variant BRCA-EU X 54021345 54021345 deletion of <=200bp C - downstream_gene_variant BRCA-EU X 54021345 54021345 deletion of <=200bp C - intron_variant BRCA-EU X 54021345 54021345 deletion of <=200bp C - upstream_gene_variant BRCA-EU X 54021423 54021423 single base substitution C G downstream_gene_variant BRCA-EU X 54021423 54021423 single base substitution C G intron_variant BRCA-EU X 54021423 54021423 single base substitution C G upstream_gene_variant BRCA-EU X 54022194 54022194 single base substitution C T downstream_gene_variant BRCA-EU X 54022194 54022194 single base substitution C T exon_variant BRCA-EU X 54022194 54022194 single base substitution C T missense_variant E182K 544G>A BRCA-EU X 54022194 54022194 single base substitution C T missense_variant E322K 964G>A BRCA-EU X 54022194 54022194 single base substitution C T missense_variant E419K 1255G>A BRCA-EU X 54022194 54022194 single base substitution C T missense_variant E455K 1363G>A BRCA-EU X 54022194 54022194 single base substitution C T missense_variant E99K 295G>A BRCA-EU X 54022194 54022194 single base substitution C T upstream_gene_variant BRCA-EU X 54022704 54022704 single base substitution G A downstream_gene_variant BRCA-EU X 54022704 54022704 single base substitution G A intron_variant BRCA-EU X 54022704 54022704 single base substitution G A upstream_gene_variant BRCA-EU X 54023234 54023234 single base substitution C G downstream_gene_variant BRCA-EU X 54023234 54023234 single base substitution C G intron_variant BRCA-EU X 54023234 54023234 single base substitution C G upstream_gene_variant BRCA-EU X 54023530 54023530 single base substitution G A downstream_gene_variant BRCA-EU X 54023530 54023530 single base substitution G A intron_variant BRCA-EU X 54023530 54023530 single base substitution G A upstream_gene_variant BRCA-EU X 54023927 54023927 single base substitution G A downstream_gene_variant BRCA-EU X 54023927 54023927 single base substitution G A intron_variant BRCA-EU X 54023927 54023927 single base substitution G A upstream_gene_variant BRCA-EU X 54024248 54024248 single base substitution G C downstream_gene_variant BRCA-EU X 54024248 54024248 single base substitution G C intron_variant BRCA-EU X 54024248 54024248 single base substitution G C upstream_gene_variant BRCA-EU X 54024795 54024795 single base substitution G A downstream_gene_variant BRCA-EU X 54024795 54024795 single base substitution G A intron_variant BRCA-EU X 54025209 54025209 single base substitution C T downstream_gene_variant BRCA-EU X 54025209 54025209 single base substitution C T intron_variant BRCA-EU X 54026653 54026653 single base substitution G C intron_variant BRCA-EU X 54027040 54027040 single base substitution C T intron_variant BRCA-EU X 54027731 54027731 single base substitution C G intron_variant BRCA-EU X 54028250 54028250 single base substitution G A intron_variant BRCA-EU X 54029555 54029555 single base substitution T A intron_variant BRCA-EU X 54029555 54029555 single base substitution T A upstream_gene_variant BRCA-EU X 54031203 54031203 single base substitution A G intron_variant BRCA-EU X 54031203 54031203 single base substitution A G upstream_gene_variant BRCA-EU X 54031387 54031387 single base substitution A C intron_variant BRCA-EU X 54031387 54031387 single base substitution A C upstream_gene_variant BRCA-EU X 54032915 54032915 insertion of <=200bp - A intron_variant BRCA-EU X 54032915 54032915 insertion of <=200bp - A upstream_gene_variant BRCA-EU X 54035308 54035308 single base substitution T A intron_variant BRCA-EU X 54036094 54036094 single base substitution G A intron_variant BRCA-EU X 54036278 54036296 deletion of <=200bp AAAAAAAAAAAAAAAAAAA - intron_variant BRCA-EU X 54037199 54037199 deletion of <=200bp A - intron_variant BRCA-EU X 54037756 54037756 single base substitution G T intron_variant BRCA-EU X 54037756 54037756 single base substitution G T upstream_gene_variant BRCA-EU X 54037758 54037758 single base substitution T G intron_variant BRCA-EU X 54037758 54037758 single base substitution T G upstream_gene_variant BRCA-EU X 54040045 54040045 single base substitution G A downstream_gene_variant BRCA-EU X 54040045 54040045 single base substitution G A intron_variant BRCA-EU X 54040045 54040045 single base substitution G A upstream_gene_variant BRCA-EU X 54041131 54041137 deletion of <=200bp ACATAGG - downstream_gene_variant BRCA-EU X 54041131 54041137 deletion of <=200bp ACATAGG - intron_variant BRCA-EU X 54041131 54041137 deletion of <=200bp ACATAGG - upstream_gene_variant BRCA-EU X 54042689 54042689 deletion of <=200bp G - downstream_gene_variant BRCA-EU X 54042689 54042689 deletion of <=200bp G - intron_variant BRCA-EU X 54042689 54042689 deletion of <=200bp G - upstream_gene_variant BRCA-EU X 54043001 54043001 deletion of <=200bp T - downstream_gene_variant BRCA-EU X 54043001 54043001 deletion of <=200bp T - intron_variant BRCA-EU X 54043001 54043001 deletion of <=200bp T - upstream_gene_variant BRCA-EU X 54043224 54043224 single base substitution C T downstream_gene_variant BRCA-EU X 54043224 54043224 single base substitution C T intron_variant BRCA-EU X 54043224 54043224 single base substitution C T upstream_gene_variant BRCA-EU X 54044727 54044727 insertion of <=200bp - A downstream_gene_variant BRCA-EU X 54044727 54044727 insertion of <=200bp - A intron_variant BRCA-EU X 54044727 54044727 insertion of <=200bp - A upstream_gene_variant BRCA-EU X 54044825 54044825 single base substitution G T downstream_gene_variant BRCA-EU X 54044825 54044825 single base substitution G T intron_variant BRCA-EU X 54044825 54044825 single base substitution G T upstream_gene_variant BRCA-EU X 54045035 54045035 single base substitution C T downstream_gene_variant BRCA-EU X 54045035 54045035 single base substitution C T intron_variant BRCA-EU X 54045035 54045035 single base substitution C T upstream_gene_variant BRCA-EU X 54046334 54046334 single base substitution G A downstream_gene_variant BRCA-EU X 54046334 54046334 single base substitution G A intron_variant BRCA-EU X 54046582 54046582 single base substitution G A downstream_gene_variant BRCA-EU X 54046582 54046582 single base substitution G A intron_variant BRCA-EU X 54046859 54046859 single base substitution G A downstream_gene_variant BRCA-EU X 54046859 54046859 single base substitution G A intron_variant BRCA-EU X 54046940 54046940 deletion of <=200bp T - downstream_gene_variant BRCA-EU X 54046940 54046940 deletion of <=200bp T - intron_variant BRCA-EU X 54046947 54046947 single base substitution A T downstream_gene_variant BRCA-EU X 54046947 54046947 single base substitution A T intron_variant BRCA-EU X 54048155 54048155 single base substitution C A downstream_gene_variant BRCA-EU X 54048155 54048155 single base substitution C A intron_variant BRCA-EU X 54049296 54049296 single base substitution C T intron_variant BRCA-EU X 54049296 54049296 single base substitution C T upstream_gene_variant BRCA-EU X 54049599 54049599 single base substitution G A intron_variant BRCA-EU X 54049599 54049599 single base substitution G A upstream_gene_variant BRCA-EU X 54049750 54049751 deletion of <=200bp AA - intron_variant BRCA-EU X 54049750 54049751 deletion of <=200bp AA - upstream_gene_variant BRCA-EU X 54049809 54049809 single base substitution A T intron_variant BRCA-EU X 54049809 54049809 single base substitution A T upstream_gene_variant BRCA-EU X 54049944 54049945 deletion of <=200bp AA - intron_variant BRCA-EU X 54049944 54049945 deletion of <=200bp AA - upstream_gene_variant BRCA-EU X 54050166 54050166 single base substitution A G intron_variant BRCA-EU X 54050166 54050166 single base substitution A G upstream_gene_variant BRCA-EU X 54050970 54050970 single base substitution T A intron_variant BRCA-EU X 54050970 54050970 single base substitution T A upstream_gene_variant BRCA-EU X 54051072 54051072 single base substitution G A intron_variant BRCA-EU X 54051072 54051072 single base substitution G A upstream_gene_variant BRCA-EU X 54051608 54051608 single base substitution C T intron_variant BRCA-EU X 54051608 54051608 single base substitution C T upstream_gene_variant BRCA-EU X 54051898 54051898 single base substitution T C intron_variant BRCA-EU X 54051898 54051898 single base substitution T C upstream_gene_variant BRCA-EU X 54052020 54052020 single base substitution C G intron_variant BRCA-EU X 54052020 54052020 single base substitution C G upstream_gene_variant BRCA-EU X 54053392 54053392 single base substitution T A intron_variant BRCA-EU X 54053392 54053392 single base substitution T A upstream_gene_variant BRCA-EU X 54054356 54054356 deletion of <=200bp A - intron_variant BRCA-EU X 54054630 54054630 single base substitution G T intron_variant BRCA-EU X 54054704 54054704 single base substitution A C intron_variant BRCA-EU X 54055984 54055984 single base substitution C T intron_variant BRCA-EU X 54059697 54059697 single base substitution C G intron_variant BRCA-EU X 54059914 54059914 single base substitution G A intron_variant BRCA-EU X 54060682 54060682 single base substitution A C intron_variant BRCA-EU X 54064066 54064066 single base substitution T C downstream_gene_variant BRCA-EU X 54064066 54064066 single base substitution T C intron_variant BRCA-EU X 54067336 54067336 single base substitution C A intron_variant BRCA-EU X 54069630 54069630 single base substitution C T intron_variant BRCA-EU X 54069630 54069630 single base substitution C T upstream_gene_variant BRCA-EU X 54069933 54069933 single base substitution C G intron_variant BRCA-EU X 54069933 54069933 single base substitution C G upstream_gene_variant BRCA-EU X 54070262 54070262 single base substitution A G 5_prime_UTR_variant BRCA-EU X 54070262 54070262 single base substitution A G intron_variant BRCA-EU X 54070262 54070262 single base substitution A G upstream_gene_variant BRCA-EU X 54070741 54070741 single base substitution C T intron_variant BRCA-EU X 54070741 54070741 single base substitution C T upstream_gene_variant BRCA-EU X 54071070 54071070 single base substitution C G intron_variant BRCA-EU X 54071070 54071070 single base substitution C G upstream_gene_variant BRCA-EU X 54071080 54071080 single base substitution G A intron_variant BRCA-EU X 54071080 54071080 single base substitution G A upstream_gene_variant BRCA-EU X 54072952 54072952 single base substitution G T intron_variant BRCA-EU X 54072952 54072952 single base substitution G T upstream_gene_variant BRCA-EU X 54073600 54073600 single base substitution G A intron_variant BRCA-EU X 54073600 54073600 single base substitution G A upstream_gene_variant BRCA-EU X 54074882 54074882 single base substitution G A intron_variant BRCA-EU X 54074882 54074882 single base substitution G A upstream_gene_variant BRCA-EU X 54075754 54075754 single base substitution G T upstream_gene_variant BRCA-EU X 54075842 54075842 single base substitution G T upstream_gene_variant BRCA-EU X 54077318 54077318 single base substitution G T upstream_gene_variant BRCA-EU X 54077672 54077672 single base substitution C A upstream_gene_variant BRCA-EU X 54078402 54078402 deletion of <=200bp T - upstream_gene_variant BRCA-EU X 54079507 54079507 single base substitution C A upstream_gene_variant BRCA-FR X 53966840 53966840 single base substitution G A downstream_gene_variant BRCA-FR X 53966840 53966840 single base substitution G A exon_variant BRCA-FR X 53966840 53966840 single base substitution G A missense_variant P819L 2456C>T BRCA-FR X 53966840 53966840 single base substitution G A missense_variant P823L 2468C>T BRCA-FR X 53966840 53966840 single base substitution G A missense_variant P920L 2759C>T BRCA-FR X 53966840 53966840 single base substitution G A missense_variant P956L 2867C>T BRCA-FR X 53970174 53970174 single base substitution C T intron_variant BRCA-FR X 53970339 53970339 single base substitution C G intron_variant BRCA-FR X 53973116 53973116 single base substitution G C intron_variant BRCA-FR X 53973116 53973116 single base substitution G C upstream_gene_variant BRCA-FR X 53973969 53973969 single base substitution C T intron_variant BRCA-FR X 53973969 53973969 single base substitution C T upstream_gene_variant BRCA-FR X 53981382 53981382 single base substitution A G intron_variant BRCA-FR X 53990282 53990282 single base substitution G T intron_variant BRCA-FR X 53991020 53991020 single base substitution C A intron_variant BRCA-FR X 53994402 53994402 single base substitution C T intron_variant BRCA-FR X 53999674 53999674 single base substitution C T intron_variant BRCA-FR X 54001844 54001844 single base substitution C T intron_variant BRCA-FR X 54006190 54006190 single base substitution A T intron_variant BRCA-FR X 54007331 54007331 single base substitution C T intron_variant BRCA-FR X 54022194 54022194 single base substitution C T downstream_gene_variant BRCA-FR X 54022194 54022194 single base substitution C T exon_variant BRCA-FR X 54022194 54022194 single base substitution C T missense_variant E182K 544G>A BRCA-FR X 54022194 54022194 single base substitution C T missense_variant E322K 964G>A BRCA-FR X 54022194 54022194 single base substitution C T missense_variant E419K 1255G>A BRCA-FR X 54022194 54022194 single base substitution C T missense_variant E455K 1363G>A BRCA-FR X 54022194 54022194 single base substitution C T missense_variant E99K 295G>A BRCA-FR X 54022194 54022194 single base substitution C T upstream_gene_variant BRCA-FR X 54025105 54025105 single base substitution G T downstream_gene_variant BRCA-FR X 54025105 54025105 single base substitution G T intron_variant BRCA-FR X 54026653 54026653 single base substitution G C intron_variant BRCA-FR X 54027209 54027209 single base substitution A G intron_variant BRCA-FR X 54037452 54037452 single base substitution G C intron_variant BRCA-FR X 54038750 54038750 single base substitution A C intron_variant BRCA-FR X 54038750 54038750 single base substitution A C upstream_gene_variant BRCA-FR X 54046947 54046947 single base substitution A T downstream_gene_variant BRCA-FR X 54046947 54046947 single base substitution A T intron_variant BRCA-FR X 54051072 54051072 single base substitution G A intron_variant BRCA-FR X 54051072 54051072 single base substitution G A upstream_gene_variant BRCA-FR X 54059019 54059019 single base substitution G A intron_variant BRCA-FR X 54059914 54059914 single base substitution G A intron_variant BRCA-FR X 54061896 54061896 single base substitution G C downstream_gene_variant BRCA-FR X 54061896 54061896 single base substitution G C intron_variant BRCA-FR X 54071070 54071070 single base substitution C G intron_variant BRCA-FR X 54071070 54071070 single base substitution C G upstream_gene_variant BRCA-FR X 54075842 54075842 single base substitution G T upstream_gene_variant BRCA-FR X 54078491 54078491 single base substitution C T upstream_gene_variant BRCA-KR X 54014290 54014290 single base substitution C A downstream_gene_variant BRCA-KR X 54014290 54014290 single base substitution C A exon_variant BRCA-KR X 54014290 54014290 single base substitution C A synonymous_variant V369V 1107G>T BRCA-KR X 54014290 54014290 single base substitution C A synonymous_variant V505V 1515G>T BRCA-KR X 54014290 54014290 single base substitution C A synonymous_variant V509V 1527G>T BRCA-KR X 54014290 54014290 single base substitution C A synonymous_variant V606V 1818G>T BRCA-KR X 54014290 54014290 single base substitution C A synonymous_variant V642V 1926G>T BRCA-UK X 54001742 54001742 single base substitution T C intron_variant BRCA-UK X 54003793 54003793 single base substitution G C intron_variant BRCA-UK X 54005145 54005145 single base substitution C T intron_variant BRCA-UK X 54013023 54013023 single base substitution T A downstream_gene_variant BRCA-UK X 54013023 54013023 single base substitution T A intron_variant BRCA-UK X 54013028 54013028 single base substitution T A downstream_gene_variant BRCA-UK X 54013028 54013028 single base substitution T A intron_variant BRCA-UK X 54028317 54028317 single base substitution C T intron_variant BRCA-UK X 54040087 54040087 single base substitution C A downstream_gene_variant BRCA-UK X 54040087 54040087 single base substitution C A intron_variant BRCA-UK X 54040087 54040087 single base substitution C A upstream_gene_variant BRCA-UK X 54053392 54053392 single base substitution T A intron_variant BRCA-UK X 54053392 54053392 single base substitution T A upstream_gene_variant BRCA-US X 53966665 53966665 single base substitution G A downstream_gene_variant BRCA-US X 53966665 53966665 single base substitution G A synonymous_variant F1014F 3042C>T BRCA-US X 53966665 53966665 single base substitution G A synonymous_variant F877F 2631C>T BRCA-US X 53966665 53966665 single base substitution G A synonymous_variant F881F 2643C>T BRCA-US X 53966665 53966665 single base substitution G A synonymous_variant F978F 2934C>T BRCA-US X 53966853 53966853 single base substitution T A downstream_gene_variant BRCA-US X 53966853 53966853 single base substitution T A exon_variant BRCA-US X 53966853 53966853 single base substitution T A missense_variant T815S 2443A>T BRCA-US X 53966853 53966853 single base substitution T A missense_variant T819S 2455A>T BRCA-US X 53966853 53966853 single base substitution T A missense_variant T916S 2746A>T BRCA-US X 53966853 53966853 single base substitution T A missense_variant T952S 2854A>T BRCA-US X 53966871 53966871 single base substitution C T downstream_gene_variant BRCA-US X 53966871 53966871 single base substitution C T exon_variant BRCA-US X 53966871 53966871 single base substitution C T missense_variant D809N 2425G>A BRCA-US X 53966871 53966871 single base substitution C T missense_variant D813N 2437G>A BRCA-US X 53966871 53966871 single base substitution C T missense_variant D910N 2728G>A BRCA-US X 53966871 53966871 single base substitution C T missense_variant D946N 2836G>A BRCA-US X 54012304 54012304 single base substitution G T downstream_gene_variant BRCA-US X 54012304 54012304 single base substitution G T intron_variant BRCA-US X 54012304 54012304 single base substitution G T missense_variant L455I 1363C>A BRCA-US X 54012304 54012304 single base substitution G T missense_variant L591I 1771C>A BRCA-US X 54012304 54012304 single base substitution G T missense_variant L595I 1783C>A BRCA-US X 54012304 54012304 single base substitution G T missense_variant L692I 2074C>A BRCA-US X 54012304 54012304 single base substitution G T missense_variant L728I 2182C>A BRCA-US X 54014274 54014274 single base substitution C G downstream_gene_variant BRCA-US X 54014274 54014274 single base substitution C G exon_variant BRCA-US X 54014274 54014274 single base substitution C G missense_variant D375H 1123G>C BRCA-US X 54014274 54014274 single base substitution C G missense_variant D511H 1531G>C BRCA-US X 54014274 54014274 single base substitution C G missense_variant D515H 1543G>C BRCA-US X 54014274 54014274 single base substitution C G missense_variant D612H 1834G>C BRCA-US X 54014274 54014274 single base substitution C G missense_variant D648H 1942G>C BRCA-US X 54020123 54020123 single base substitution C T intron_variant BRCA-US X 54020123 54020123 single base substitution C T missense_variant A276T 826G>A BRCA-US X 54020123 54020123 single base substitution C T missense_variant A416T 1246G>A BRCA-US X 54020123 54020123 single base substitution C T missense_variant A513T 1537G>A BRCA-US X 54020123 54020123 single base substitution C T missense_variant A549T 1645G>A BRCA-US X 54020123 54020123 single base substitution C T upstream_gene_variant BRCA-US X 54020225 54020225 single base substitution T C intron_variant BRCA-US X 54020225 54020225 single base substitution T C missense_variant M242V 724A>G BRCA-US X 54020225 54020225 single base substitution T C missense_variant M382V 1144A>G BRCA-US X 54020225 54020225 single base substitution T C missense_variant M479V 1435A>G BRCA-US X 54020225 54020225 single base substitution T C missense_variant M515V 1543A>G BRCA-US X 54020225 54020225 single base substitution T C upstream_gene_variant BRCA-US X 54026388 54026388 single base substitution C T exon_variant BRCA-US X 54026388 54026388 single base substitution C T missense_variant R146Q 437G>A BRCA-US X 54026388 54026388 single base substitution C T missense_variant R286Q 857G>A BRCA-US X 54026388 54026388 single base substitution C T missense_variant R383Q 1148G>A BRCA-US X 54026388 54026388 single base substitution C T missense_variant R419Q 1256G>A BRCA-US X 54026388 54026388 single base substitution C T missense_variant R63Q 188G>A BRCA-US X 54028588 54028588 single base substitution C T missense_variant G144S 430G>A BRCA-US X 54028588 54028588 single base substitution C T missense_variant G284S 850G>A BRCA-US X 54028588 54028588 single base substitution C T missense_variant G381S 1141G>A BRCA-US X 54028588 54028588 single base substitution C T missense_variant G417S 1249G>A BRCA-US X 54028588 54028588 single base substitution C T missense_variant G61S 181G>A BRCA-US X 54028588 54028588 single base substitution C T splice_region_variant BRCA-US X 54029058 54029059 deletion of <=200bp AA - exon_variant BRCA-US X 54029058 54029059 deletion of <=200bp AA - frameshift_variant L15 BRCA-US X 54029058 54029059 deletion of <=200bp AA - frameshift_variant L238 BRCA-US X 54029058 54029059 deletion of <=200bp AA - frameshift_variant L335 BRCA-US X 54029058 54029059 deletion of <=200bp AA - frameshift_variant L371 BRCA-US X 54029058 54029059 deletion of <=200bp AA - frameshift_variant L98 BRCA-US X 54037619 54037619 single base substitution C T exon_variant BRCA-US X 54037619 54037619 single base substitution C T synonymous_variant G197G 591G>A BRCA-US X 54037619 54037619 single base substitution C T synonymous_variant G294G 882G>A BRCA-US X 54037619 54037619 single base substitution C T synonymous_variant G330G 990G>A BRCA-US X 54037619 54037619 single base substitution C T synonymous_variant G57G 171G>A BRCA-US X 54043158 54043158 single base substitution C G downstream_gene_variant BRCA-US X 54043158 54043158 single base substitution C G missense_variant E156Q 466G>C BRCA-US X 54043158 54043158 single base substitution C G missense_variant E192Q 574G>C BRCA-US X 54043158 54043158 single base substitution C G missense_variant E59Q 175G>C BRCA-US X 54043158 54043158 single base substitution C G upstream_gene_variant BRCA-US X 54044120 54044120 single base substitution G T downstream_gene_variant BRCA-US X 54044120 54044120 single base substitution G T missense_variant T143N 428C>A BRCA-US X 54044120 54044120 single base substitution G T missense_variant T179N 536C>A BRCA-US X 54044120 54044120 single base substitution G T missense_variant T46N 137C>A BRCA-US X 54044120 54044120 single base substitution G T upstream_gene_variant BRCA-US X 54069105 54069105 single base substitution G A exon_variant BRCA-US X 54069105 54069105 single base substitution G A synonymous_variant F19F 57C>T BRCA-US X 54069105 54069105 single base substitution G A synonymous_variant F55F 165C>T BRCA-US X 54069225 54069225 single base substitution C T 5_prime_UTR_variant BRCA-US X 54069225 54069225 single base substitution C T synonymous_variant P15P 45G>A BRCA-US X 54069225 54069225 single base substitution C T upstream_gene_variant BTCA-JP X 53966750 53966750 single base substitution G A downstream_gene_variant BTCA-JP X 53966750 53966750 single base substitution G A missense_variant A849V 2546C>T BTCA-JP X 53966750 53966750 single base substitution G A missense_variant A853V 2558C>T BTCA-JP X 53966750 53966750 single base substitution G A missense_variant A950V 2849C>T BTCA-JP X 53966750 53966750 single base substitution G A missense_variant A986V 2957C>T BTCA-JP X 54043164 54043164 single base substitution C G downstream_gene_variant BTCA-JP X 54043164 54043164 single base substitution C G missense_variant D154H 460G>C BTCA-JP X 54043164 54043164 single base substitution C G missense_variant D190H 568G>C BTCA-JP X 54043164 54043164 single base substitution C G missense_variant D57H 169G>C BTCA-JP X 54043164 54043164 single base substitution C G upstream_gene_variant BTCA-JP X 54049279 54049279 single base substitution G A splice_region_variant BTCA-JP X 54049279 54049279 single base substitution G A upstream_gene_variant CESC-US X 53966697 53966697 single base substitution G A downstream_gene_variant CESC-US X 53966697 53966697 single base substitution G A missense_variant R1004C 3010C>T CESC-US X 53966697 53966697 single base substitution G A missense_variant R867C 2599C>T CESC-US X 53966697 53966697 single base substitution G A missense_variant R871C 2611C>T CESC-US X 53966697 53966697 single base substitution G A missense_variant R968C 2902C>T CESC-US X 54011586 54011586 single base substitution G A downstream_gene_variant CESC-US X 54011586 54011586 single base substitution G A missense_variant S498L 1493C>T CESC-US X 54011586 54011586 single base substitution G A missense_variant S634L 1901C>T CESC-US X 54011586 54011586 single base substitution G A missense_variant S638L 1913C>T CESC-US X 54011586 54011586 single base substitution G A missense_variant S718L 2153C>T CESC-US X 54011586 54011586 single base substitution G A missense_variant S735L 2204C>T CESC-US X 54011586 54011586 single base substitution G A missense_variant S771L 2312C>T CESC-US X 54022194 54022194 single base substitution C T downstream_gene_variant CESC-US X 54022194 54022194 single base substitution C T exon_variant CESC-US X 54022194 54022194 single base substitution C T missense_variant E182K 544G>A CESC-US X 54022194 54022194 single base substitution C T missense_variant E322K 964G>A CESC-US X 54022194 54022194 single base substitution C T missense_variant E419K 1255G>A CESC-US X 54022194 54022194 single base substitution C T missense_variant E455K 1363G>A CESC-US X 54022194 54022194 single base substitution C T missense_variant E99K 295G>A CESC-US X 54022194 54022194 single base substitution C T upstream_gene_variant CESC-US X 54022200 54022200 single base substitution C T downstream_gene_variant CESC-US X 54022200 54022200 single base substitution C T exon_variant CESC-US X 54022200 54022200 single base substitution C T missense_variant E180K 538G>A CESC-US X 54022200 54022200 single base substitution C T missense_variant E320K 958G>A CESC-US X 54022200 54022200 single base substitution C T missense_variant E417K 1249G>A CESC-US X 54022200 54022200 single base substitution C T missense_variant E453K 1357G>A CESC-US X 54022200 54022200 single base substitution C T missense_variant E97K 289G>A CESC-US X 54022200 54022200 single base substitution C T upstream_gene_variant CESC-US X 54040926 54040926 single base substitution C T downstream_gene_variant CESC-US X 54040926 54040926 single base substitution C T exon_variant CESC-US X 54040926 54040926 single base substitution C T missense_variant E126K 376G>A CESC-US X 54040926 54040926 single base substitution C T missense_variant E223K 667G>A CESC-US X 54040926 54040926 single base substitution C T missense_variant E259K 775G>A CESC-US X 54040926 54040926 single base substitution C T upstream_gene_variant CESC-US X 54048782 54048782 single base substitution G A missense_variant S104F 311C>T CESC-US X 54048782 54048782 single base substitution G A missense_variant S68F 203C>T CESC-US X 54048782 54048782 single base substitution G A upstream_gene_variant CLLE-ES X 53973035 53973035 single base substitution A G intron_variant CLLE-ES X 53973035 53973035 single base substitution A G upstream_gene_variant CLLE-ES X 53992128 53992128 single base substitution C T intron_variant CLLE-ES X 53993379 53993379 single base substitution C T intron_variant CLLE-ES X 54000429 54000429 single base substitution A G intron_variant CLLE-ES X 54010741 54010741 single base substitution G A downstream_gene_variant CLLE-ES X 54010741 54010741 single base substitution G A intron_variant CLLE-ES X 54017219 54017219 single base substitution G T downstream_gene_variant CLLE-ES X 54017219 54017219 single base substitution G T intron_variant CLLE-ES X 54021334 54021334 single base substitution C A downstream_gene_variant CLLE-ES X 54021334 54021334 single base substitution C A intron_variant CLLE-ES X 54021334 54021334 single base substitution C A upstream_gene_variant CLLE-ES X 54038311 54038311 single base substitution A G intron_variant CLLE-ES X 54038311 54038311 single base substitution A G upstream_gene_variant CLLE-ES X 54055885 54055885 single base substitution C T intron_variant COAD-US X 54011472 54011472 single base substitution C T downstream_gene_variant COAD-US X 54011472 54011472 single base substitution C T missense_variant R536H 1607G>A COAD-US X 54011472 54011472 single base substitution C T missense_variant R672H 2015G>A COAD-US X 54011472 54011472 single base substitution C T missense_variant R676H 2027G>A COAD-US X 54011472 54011472 single base substitution C T missense_variant R756H 2267G>A COAD-US X 54011472 54011472 single base substitution C T missense_variant R773H 2318G>A COAD-US X 54011472 54011472 single base substitution C T missense_variant R809H 2426G>A COAD-US X 54012270 54012270 deletion of <=200bp C - downstream_gene_variant COAD-US X 54012270 54012270 deletion of <=200bp C - frameshift_variant G466 COAD-US X 54012270 54012270 deletion of <=200bp C - frameshift_variant G602 COAD-US X 54012270 54012270 deletion of <=200bp C - frameshift_variant G606 COAD-US X 54012270 54012270 deletion of <=200bp C - frameshift_variant G703 COAD-US X 54012270 54012270 deletion of <=200bp C - frameshift_variant G739 COAD-US X 54012270 54012270 deletion of <=200bp C - intron_variant COAD-US X 54014375 54014375 single base substitution G A downstream_gene_variant COAD-US X 54014375 54014375 single base substitution G A missense_variant T341M 1022C>T COAD-US X 54014375 54014375 single base substitution G A missense_variant T477M 1430C>T COAD-US X 54014375 54014375 single base substitution G A missense_variant T481M 1442C>T COAD-US X 54014375 54014375 single base substitution G A missense_variant T578M 1733C>T COAD-US X 54014375 54014375 single base substitution G A missense_variant T614M 1841C>T COAD-US X 54014375 54014375 single base substitution G A splice_region_variant COAD-US X 54019233 54019233 single base substitution C A 3_prime_UTR_variant COAD-US X 54019233 54019233 single base substitution C A downstream_gene_variant COAD-US X 54019233 54019233 single base substitution C A exon_variant COAD-US X 54019233 54019233 single base substitution C A missense_variant D319Y 955G>T COAD-US X 54019233 54019233 single base substitution C A missense_variant D455Y 1363G>T COAD-US X 54019233 54019233 single base substitution C A missense_variant D459Y 1375G>T COAD-US X 54019233 54019233 single base substitution C A missense_variant D556Y 1666G>T COAD-US X 54019233 54019233 single base substitution C A missense_variant D592Y 1774G>T COAD-US X 54020061 54020061 single base substitution C A intron_variant COAD-US X 54020061 54020061 single base substitution C A synonymous_variant L296L 888G>T COAD-US X 54020061 54020061 single base substitution C A synonymous_variant L436L 1308G>T COAD-US X 54020061 54020061 single base substitution C A synonymous_variant L533L 1599G>T COAD-US X 54020061 54020061 single base substitution C A synonymous_variant L569L 1707G>T COAD-US X 54020061 54020061 single base substitution C A upstream_gene_variant COAD-US X 54069084 54069084 single base substitution G A exon_variant COAD-US X 54069084 54069084 single base substitution G A synonymous_variant C26C 78C>T COAD-US X 54069084 54069084 single base substitution G A synonymous_variant C62C 186C>T COCA-CN X 53967001 53967001 single base substitution T G downstream_gene_variant COCA-CN X 53967001 53967001 single base substitution T G intron_variant COCA-CN X 53970044 53970044 single base substitution G T intron_variant COCA-CN X 53970722 53970722 single base substitution G A exon_variant COCA-CN X 53970722 53970722 single base substitution G A intron_variant COCA-CN X 53989359 53989359 single base substitution C A synonymous_variant L582L 1746G>T COCA-CN X 53989359 53989359 single base substitution C A synonymous_variant L718L 2154G>T COCA-CN X 53989359 53989359 single base substitution C A synonymous_variant L722L 2166G>T COCA-CN X 53989359 53989359 single base substitution C A synonymous_variant L802L 2406G>T COCA-CN X 53989359 53989359 single base substitution C A synonymous_variant L819L 2457G>T COCA-CN X 53989359 53989359 single base substitution C A synonymous_variant L855L 2565G>T COCA-CN X 54011369 54011369 single base substitution C T downstream_gene_variant COCA-CN X 54011369 54011369 single base substitution C T synonymous_variant A570A 1710G>A COCA-CN X 54011369 54011369 single base substitution C T synonymous_variant A706A 2118G>A COCA-CN X 54011369 54011369 single base substitution C T synonymous_variant A710A 2130G>A COCA-CN X 54011369 54011369 single base substitution C T synonymous_variant A790A 2370G>A COCA-CN X 54011369 54011369 single base substitution C T synonymous_variant A807A 2421G>A COCA-CN X 54011369 54011369 single base substitution C T synonymous_variant A843A 2529G>A COCA-CN X 54012093 54012093 single base substitution T C downstream_gene_variant COCA-CN X 54012093 54012093 single base substitution T C intron_variant COCA-CN X 54014241 54014241 single base substitution C T downstream_gene_variant COCA-CN X 54014241 54014241 single base substitution C T exon_variant COCA-CN X 54014241 54014241 single base substitution C T missense_variant E386K 1156G>A COCA-CN X 54014241 54014241 single base substitution C T missense_variant E522K 1564G>A COCA-CN X 54014241 54014241 single base substitution C T missense_variant E526K 1576G>A COCA-CN X 54014241 54014241 single base substitution C T missense_variant E623K 1867G>A COCA-CN X 54014241 54014241 single base substitution C T missense_variant E659K 1975G>A COCA-CN X 54014348 54014348 single base substitution G T downstream_gene_variant COCA-CN X 54014348 54014348 single base substitution G T exon_variant COCA-CN X 54014348 54014348 single base substitution G T missense_variant S350Y 1049C>A COCA-CN X 54014348 54014348 single base substitution G T missense_variant S486Y 1457C>A COCA-CN X 54014348 54014348 single base substitution G T missense_variant S490Y 1469C>A COCA-CN X 54014348 54014348 single base substitution G T missense_variant S587Y 1760C>A COCA-CN X 54014348 54014348 single base substitution G T missense_variant S623Y 1868C>A COCA-CN X 54014362 54014362 single base substitution C A downstream_gene_variant COCA-CN X 54014362 54014362 single base substitution C A exon_variant COCA-CN X 54014362 54014362 single base substitution C A missense_variant K345N 1035G>T COCA-CN X 54014362 54014362 single base substitution C A missense_variant K481N 1443G>T COCA-CN X 54014362 54014362 single base substitution C A missense_variant K485N 1455G>T COCA-CN X 54014362 54014362 single base substitution C A missense_variant K582N 1746G>T COCA-CN X 54014362 54014362 single base substitution C A missense_variant K618N 1854G>T COCA-CN X 54020271 54020271 single base substitution G A intron_variant COCA-CN X 54020271 54020271 single base substitution G A synonymous_variant A226A 678C>T COCA-CN X 54020271 54020271 single base substitution G A synonymous_variant A366A 1098C>T COCA-CN X 54020271 54020271 single base substitution G A synonymous_variant A463A 1389C>T COCA-CN X 54020271 54020271 single base substitution G A synonymous_variant A499A 1497C>T COCA-CN X 54020271 54020271 single base substitution G A upstream_gene_variant COCA-CN X 54028785 54028785 single base substitution C A intron_variant COCA-CN X 54042952 54042952 single base substitution C A downstream_gene_variant COCA-CN X 54042952 54042952 single base substitution C A intron_variant COCA-CN X 54042952 54042952 single base substitution C A upstream_gene_variant COCA-CN X 54044264 54044264 single base substitution G A downstream_gene_variant COCA-CN X 54044264 54044264 single base substitution G A intron_variant COCA-CN X 54044264 54044264 single base substitution G A upstream_gene_variant COCA-CN X 54048792 54048792 single base substitution G A missense_variant R101C 301C>T COCA-CN X 54048792 54048792 single base substitution G A missense_variant R65C 193C>T COCA-CN X 54048792 54048792 single base substitution G A upstream_gene_variant COCA-CN X 54049217 54049217 single base substitution C T missense_variant C53Y 158G>A COCA-CN X 54049217 54049217 single base substitution C T missense_variant C89Y 266G>A COCA-CN X 54049217 54049217 single base substitution C T upstream_gene_variant COCA-CN X 54049251 54049251 single base substitution C T missense_variant A42T 124G>A COCA-CN X 54049251 54049251 single base substitution C T missense_variant A78T 232G>A COCA-CN X 54049251 54049251 single base substitution C T upstream_gene_variant EOPC-DE X 53976164 53976164 single base substitution G C intron_variant EOPC-DE X 53986515 53986515 single base substitution G T intron_variant ESCA-CN X 54029116 54029116 single base substitution C T splice_acceptor_variant ESCA-CN X 54029116 54029116 single base substitution C T upstream_gene_variant ESCA-CN X 54043051 54043051 single base substitution A G downstream_gene_variant ESCA-CN X 54043051 54043051 single base substitution A G synonymous_variant I191I 573T>C ESCA-CN X 54043051 54043051 single base substitution A G synonymous_variant I227I 681T>C ESCA-CN X 54043051 54043051 single base substitution A G synonymous_variant I94I 282T>C ESCA-CN X 54043051 54043051 single base substitution A G upstream_gene_variant GBM-US X 54037681 54037681 single base substitution C G exon_variant GBM-US X 54037681 54037681 single base substitution C G missense_variant A177P 529G>C GBM-US X 54037681 54037681 single base substitution C G missense_variant A274P 820G>C GBM-US X 54037681 54037681 single base substitution C G missense_variant A310P 928G>C GBM-US X 54037681 54037681 single base substitution C G missense_variant A37P 109G>C GBM-US X 54037681 54037681 single base substitution C G upstream_gene_variant KIRC-US X 54019191 54019191 single base substitution C A downstream_gene_variant KIRC-US X 54019191 54019191 single base substitution C A exon_variant KIRC-US X 54019191 54019191 single base substitution C A missense_variant A333S 997G>T KIRC-US X 54019191 54019191 single base substitution C A missense_variant A469S 1405G>T KIRC-US X 54019191 54019191 single base substitution C A missense_variant A473S 1417G>T KIRC-US X 54019191 54019191 single base substitution C A missense_variant A570S 1708G>T KIRC-US X 54019191 54019191 single base substitution C A missense_variant A606S 1816G>T KIRC-US X 54043171 54043171 single base substitution T C downstream_gene_variant KIRC-US X 54043171 54043171 single base substitution T C splice_acceptor_variant KIRC-US X 54043171 54043171 single base substitution T C upstream_gene_variant KIRC-US X 54044120 54044120 single base substitution G T downstream_gene_variant KIRC-US X 54044120 54044120 single base substitution G T missense_variant T143N 428C>A KIRC-US X 54044120 54044120 single base substitution G T missense_variant T179N 536C>A KIRC-US X 54044120 54044120 single base substitution G T missense_variant T46N 137C>A KIRC-US X 54044120 54044120 single base substitution G T upstream_gene_variant KIRC-US X 54048718 54048718 single base substitution T C synonymous_variant R125R 375A>G KIRC-US X 54048718 54048718 single base substitution T C synonymous_variant R89R 267A>G KIRC-US X 54048718 54048718 single base substitution T C upstream_gene_variant LAML-KR X 53993685 53993685 single base substitution G C intron_variant LAML-KR X 53993716 53993716 single base substitution T C intron_variant LAML-KR X 53993969 53993969 single base substitution G A intron_variant LICA-CN X 54029086 54029086 single base substitution C A exon_variant LICA-CN X 54029086 54029086 single base substitution C A missense_variant D229Y 685G>T LICA-CN X 54029086 54029086 single base substitution C A missense_variant D326Y 976G>T LICA-CN X 54029086 54029086 single base substitution C A missense_variant D362Y 1084G>T LICA-CN X 54029086 54029086 single base substitution C A missense_variant D6Y 16G>T LICA-CN X 54029086 54029086 single base substitution C A missense_variant D89Y 265G>T LICA-FR X 53966884 53966884 single base substitution C A downstream_gene_variant LICA-FR X 53966884 53966884 single base substitution C A exon_variant LICA-FR X 53966884 53966884 single base substitution C A missense_variant Q804H 2412G>T LICA-FR X 53966884 53966884 single base substitution C A missense_variant Q808H 2424G>T LICA-FR X 53966884 53966884 single base substitution C A missense_variant Q905H 2715G>T LICA-FR X 53966884 53966884 single base substitution C A missense_variant Q941H 2823G>T LICA-FR X 53966896 53966896 single base substitution C T downstream_gene_variant LICA-FR X 53966896 53966896 single base substitution C T exon_variant LICA-FR X 53966896 53966896 single base substitution C T synonymous_variant K800K 2400G>A LICA-FR X 53966896 53966896 single base substitution C T synonymous_variant K804K 2412G>A LICA-FR X 53966896 53966896 single base substitution C T synonymous_variant K901K 2703G>A LICA-FR X 53966896 53966896 single base substitution C T synonymous_variant K937K 2811G>A LICA-FR X 53971359 53971359 single base substitution G A intron_variant LICA-FR X 53971359 53971359 single base substitution G A upstream_gene_variant LICA-FR X 53982857 53982857 single base substitution T C intron_variant LICA-FR X 53985531 53985531 single base substitution G C intron_variant LICA-FR X 54011543 54011543 single base substitution C T downstream_gene_variant LICA-FR X 54011543 54011543 single base substitution C T synonymous_variant G512G 1536G>A LICA-FR X 54011543 54011543 single base substitution C T synonymous_variant G648G 1944G>A LICA-FR X 54011543 54011543 single base substitution C T synonymous_variant G652G 1956G>A LICA-FR X 54011543 54011543 single base substitution C T synonymous_variant G732G 2196G>A LICA-FR X 54011543 54011543 single base substitution C T synonymous_variant G749G 2247G>A LICA-FR X 54011543 54011543 single base substitution C T synonymous_variant G785G 2355G>A LICA-FR X 54033373 54033373 deletion of <=200bp A - intron_variant LICA-FR X 54033373 54033373 deletion of <=200bp A - upstream_gene_variant LICA-FR X 54037146 54037146 single base substitution G A intron_variant LICA-FR X 54038526 54038526 single base substitution G C intron_variant LICA-FR X 54038526 54038526 single base substitution G C upstream_gene_variant LICA-FR X 54060829 54060829 single base substitution C G intron_variant LICA-FR X 54069251 54069251 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant LICA-FR X 54069251 54069251 single base substitution T C intron_variant LICA-FR X 54069251 54069251 single base substitution T C missense_variant I7V 19A>G LICA-FR X 54069251 54069251 single base substitution T C splice_region_variant LICA-FR X 54069251 54069251 single base substitution T C upstream_gene_variant LICA-FR X 54079420 54079420 single base substitution A T upstream_gene_variant LIHC-US X 54011484 54011484 single base substitution G A downstream_gene_variant LIHC-US X 54011484 54011484 single base substitution G A missense_variant P532L 1595C>T LIHC-US X 54011484 54011484 single base substitution G A missense_variant P668L 2003C>T LIHC-US X 54011484 54011484 single base substitution G A missense_variant P672L 2015C>T LIHC-US X 54011484 54011484 single base substitution G A missense_variant P752L 2255C>T LIHC-US X 54011484 54011484 single base substitution G A missense_variant P769L 2306C>T LIHC-US X 54011484 54011484 single base substitution G A missense_variant P805L 2414C>T LIHC-US X 54022132 54022132 single base substitution C T downstream_gene_variant LIHC-US X 54022132 54022132 single base substitution C T exon_variant LIHC-US X 54022132 54022132 single base substitution C T synonymous_variant L119L 357G>A LIHC-US X 54022132 54022132 single base substitution C T synonymous_variant L202L 606G>A LIHC-US X 54022132 54022132 single base substitution C T synonymous_variant L342L 1026G>A LIHC-US X 54022132 54022132 single base substitution C T synonymous_variant L439L 1317G>A LIHC-US X 54022132 54022132 single base substitution C T synonymous_variant L475L 1425G>A LIHC-US X 54022132 54022132 single base substitution C T upstream_gene_variant LIHC-US X 54022184 54022184 single base substitution T C downstream_gene_variant LIHC-US X 54022184 54022184 single base substitution T C exon_variant LIHC-US X 54022184 54022184 single base substitution T C missense_variant E102G 305A>G LIHC-US X 54022184 54022184 single base substitution T C missense_variant E185G 554A>G LIHC-US X 54022184 54022184 single base substitution T C missense_variant E325G 974A>G LIHC-US X 54022184 54022184 single base substitution T C missense_variant E422G 1265A>G LIHC-US X 54022184 54022184 single base substitution T C missense_variant E458G 1373A>G LIHC-US X 54022184 54022184 single base substitution T C upstream_gene_variant LIHC-US X 54044138 54044138 single base substitution A C downstream_gene_variant LIHC-US X 54044138 54044138 single base substitution A C missense_variant L137R 410T>G LIHC-US X 54044138 54044138 single base substitution A C missense_variant L173R 518T>G LIHC-US X 54044138 54044138 single base substitution A C missense_variant L40R 119T>G LIHC-US X 54044138 54044138 single base substitution A C upstream_gene_variant LINC-JP X 53962648 53962648 single base substitution C A downstream_gene_variant LINC-JP X 53969060 53969060 single base substitution T C 3_prime_UTR_variant LINC-JP X 53969060 53969060 single base substitution T C downstream_gene_variant LINC-JP X 53969060 53969060 single base substitution T C intron_variant LINC-JP X 53969807 53969807 single base substitution T A intron_variant LINC-JP X 53969807 53969807 single base substitution T A missense_variant D656V 1967A>T LINC-JP X 53969807 53969807 single base substitution T A missense_variant D876V 2627A>T LINC-JP X 53978695 53978695 single base substitution C T intron_variant LINC-JP X 53989371 53989371 single base substitution G C missense_variant I578M 1734C>G LINC-JP X 53989371 53989371 single base substitution G C missense_variant I714M 2142C>G LINC-JP X 53989371 53989371 single base substitution G C missense_variant I718M 2154C>G LINC-JP X 53989371 53989371 single base substitution G C missense_variant I798M 2394C>G LINC-JP X 53989371 53989371 single base substitution G C missense_variant I815M 2445C>G LINC-JP X 53989371 53989371 single base substitution G C missense_variant I851M 2553C>G LINC-JP X 54020447 54020447 single base substitution T C intron_variant LINC-JP X 54020447 54020447 single base substitution T C upstream_gene_variant LINC-JP X 54022169 54022169 single base substitution A G downstream_gene_variant LINC-JP X 54022169 54022169 single base substitution A G exon_variant LINC-JP X 54022169 54022169 single base substitution A G missense_variant V107A 320T>C LINC-JP X 54022169 54022169 single base substitution A G missense_variant V190A 569T>C LINC-JP X 54022169 54022169 single base substitution A G missense_variant V330A 989T>C LINC-JP X 54022169 54022169 single base substitution A G missense_variant V427A 1280T>C LINC-JP X 54022169 54022169 single base substitution A G missense_variant V463A 1388T>C LINC-JP X 54022169 54022169 single base substitution A G upstream_gene_variant LINC-JP X 54022364 54022364 single base substitution C A downstream_gene_variant LINC-JP X 54022364 54022364 single base substitution C A intron_variant LINC-JP X 54022364 54022364 single base substitution C A upstream_gene_variant LINC-JP X 54022365 54022365 single base substitution A C downstream_gene_variant LINC-JP X 54022365 54022365 single base substitution A C intron_variant LINC-JP X 54022365 54022365 single base substitution A C upstream_gene_variant LINC-JP X 54025527 54025527 single base substitution A C downstream_gene_variant LINC-JP X 54025527 54025527 single base substitution A C intron_variant LINC-JP X 54034168 54034168 single base substitution T C intron_variant LINC-JP X 54038295 54038295 single base substitution C A intron_variant LINC-JP X 54038295 54038295 single base substitution C A upstream_gene_variant LINC-JP X 54043116 54043116 single base substitution T C downstream_gene_variant LINC-JP X 54043116 54043116 single base substitution T C missense_variant M170V 508A>G LINC-JP X 54043116 54043116 single base substitution T C missense_variant M206V 616A>G LINC-JP X 54043116 54043116 single base substitution T C missense_variant M73V 217A>G LINC-JP X 54043116 54043116 single base substitution T C upstream_gene_variant LINC-JP X 54043182 54043182 single base substitution G C downstream_gene_variant LINC-JP X 54043182 54043182 single base substitution G C intron_variant LINC-JP X 54043182 54043182 single base substitution G C upstream_gene_variant LINC-JP X 54054078 54054078 single base substitution C T intron_variant LINC-JP X 54063034 54063034 single base substitution C A downstream_gene_variant LINC-JP X 54063034 54063034 single base substitution C A intron_variant LINC-JP X 54067821 54067821 single base substitution T A intron_variant LINC-JP X 54067838 54067838 single base substitution G A intron_variant LINC-JP X 54069271 54069271 deletion of <=200bp T - 5_prime_UTR_variant LINC-JP X 54069271 54069271 deletion of <=200bp T - intron_variant LINC-JP X 54069271 54069271 deletion of <=200bp T - splice_acceptor_variant LINC-JP X 54069271 54069271 deletion of <=200bp T - upstream_gene_variant LINC-JP X 54069342 54069342 single base substitution G A 5_prime_UTR_variant LINC-JP X 54069342 54069342 single base substitution G A intron_variant LINC-JP X 54069342 54069342 single base substitution G A splice_region_variant LINC-JP X 54069342 54069342 single base substitution G A upstream_gene_variant LINC-JP X 54072376 54072376 insertion of <=200bp - ACCC intron_variant LINC-JP X 54072376 54072376 insertion of <=200bp - ACCC upstream_gene_variant LINC-JP X 54075313 54075313 single base substitution A G intron_variant LINC-JP X 54075313 54075313 single base substitution A G upstream_gene_variant LIRI-JP X 53963026 53963026 single base substitution A G downstream_gene_variant LIRI-JP X 53963141 53963141 single base substitution T C 3_prime_UTR_variant LIRI-JP X 53963141 53963141 single base substitution T C downstream_gene_variant LIRI-JP X 53963795 53963795 single base substitution G A 3_prime_UTR_variant LIRI-JP X 53963795 53963795 single base substitution G A downstream_gene_variant LIRI-JP X 53964792 53964792 single base substitution T C 3_prime_UTR_variant LIRI-JP X 53964792 53964792 single base substitution T C downstream_gene_variant LIRI-JP X 53964792 53964792 single base substitution T C intron_variant LIRI-JP X 53965661 53965661 single base substitution C T downstream_gene_variant LIRI-JP X 53965661 53965661 single base substitution C T missense_variant G1002D 3005G>A LIRI-JP X 53965661 53965661 single base substitution C T missense_variant G1038D 3113G>A LIRI-JP X 53965661 53965661 single base substitution C T missense_variant G901D 2702G>A LIRI-JP X 53965661 53965661 single base substitution C T missense_variant G905D 2714G>A LIRI-JP X 53967355 53967355 single base substitution C T downstream_gene_variant LIRI-JP X 53967355 53967355 single base substitution C T intron_variant LIRI-JP X 53967707 53967707 single base substitution A T downstream_gene_variant LIRI-JP X 53967707 53967707 single base substitution A T intron_variant LIRI-JP X 53968120 53968120 single base substitution G A downstream_gene_variant LIRI-JP X 53968120 53968120 single base substitution G A intron_variant LIRI-JP X 53972716 53972716 single base substitution A C intron_variant LIRI-JP X 53972716 53972716 single base substitution A C upstream_gene_variant LIRI-JP X 53972731 53972731 single base substitution A G intron_variant LIRI-JP X 53972731 53972731 single base substitution A G upstream_gene_variant LIRI-JP X 53973722 53973722 single base substitution C A intron_variant LIRI-JP X 53973722 53973722 single base substitution C A upstream_gene_variant LIRI-JP X 53973890 53973890 single base substitution C T intron_variant LIRI-JP X 53973890 53973890 single base substitution C T upstream_gene_variant LIRI-JP X 53977170 53977170 single base substitution A C intron_variant LIRI-JP X 53977304 53977304 single base substitution A T intron_variant LIRI-JP X 53977484 53977484 single base substitution A G intron_variant LIRI-JP X 53979304 53979304 single base substitution C T intron_variant LIRI-JP X 53979388 53979388 single base substitution G T intron_variant LIRI-JP X 53980399 53980399 single base substitution A G intron_variant LIRI-JP X 53982486 53982486 single base substitution C A intron_variant LIRI-JP X 53982929 53982929 single base substitution A C intron_variant LIRI-JP X 53984756 53984756 single base substitution A T intron_variant LIRI-JP X 53985790 53985790 single base substitution A G intron_variant LIRI-JP X 53988245 53988245 single base substitution G A intron_variant LIRI-JP X 53989427 53989427 single base substitution T C intron_variant LIRI-JP X 53997265 53997265 single base substitution C T intron_variant LIRI-JP X 53998032 53998032 single base substitution G C intron_variant LIRI-JP X 53999854 53999854 single base substitution G C intron_variant LIRI-JP X 54001588 54001588 single base substitution C T intron_variant LIRI-JP X 54005829 54005829 single base substitution A G intron_variant LIRI-JP X 54005913 54005913 single base substitution T C intron_variant LIRI-JP X 54007323 54007323 single base substitution C A intron_variant LIRI-JP X 54008873 54008873 single base substitution T C intron_variant LIRI-JP X 54019179 54019179 single base substitution A T downstream_gene_variant LIRI-JP X 54019179 54019179 single base substitution A T exon_variant LIRI-JP X 54019179 54019179 single base substitution A T missense_variant S337T 1009T>A LIRI-JP X 54019179 54019179 single base substitution A T missense_variant S473T 1417T>A LIRI-JP X 54019179 54019179 single base substitution A T missense_variant S477T 1429T>A LIRI-JP X 54019179 54019179 single base substitution A T missense_variant S574T 1720T>A LIRI-JP X 54019179 54019179 single base substitution A T missense_variant S610T 1828T>A LIRI-JP X 54020317 54020317 single base substitution A G intron_variant LIRI-JP X 54020317 54020317 single base substitution A G missense_variant V211A 632T>C LIRI-JP X 54020317 54020317 single base substitution A G missense_variant V351A 1052T>C LIRI-JP X 54020317 54020317 single base substitution A G missense_variant V448A 1343T>C LIRI-JP X 54020317 54020317 single base substitution A G missense_variant V484A 1451T>C LIRI-JP X 54020317 54020317 single base substitution A G upstream_gene_variant LIRI-JP X 54020922 54020922 single base substitution C T downstream_gene_variant LIRI-JP X 54020922 54020922 single base substitution C T intron_variant LIRI-JP X 54020922 54020922 single base substitution C T upstream_gene_variant LIRI-JP X 54021304 54021304 single base substitution C G downstream_gene_variant LIRI-JP X 54021304 54021304 single base substitution C G intron_variant LIRI-JP X 54021304 54021304 single base substitution C G upstream_gene_variant LIRI-JP X 54021999 54021999 single base substitution T C downstream_gene_variant LIRI-JP X 54021999 54021999 single base substitution T C intron_variant LIRI-JP X 54021999 54021999 single base substitution T C upstream_gene_variant LIRI-JP X 54025245 54025245 single base substitution C A downstream_gene_variant LIRI-JP X 54025245 54025245 single base substitution C A intron_variant LIRI-JP X 54025414 54025414 single base substitution A G downstream_gene_variant LIRI-JP X 54025414 54025414 single base substitution A G intron_variant LIRI-JP X 54026812 54026812 single base substitution A G intron_variant LIRI-JP X 54026913 54026913 single base substitution T G intron_variant LIRI-JP X 54029418 54029418 single base substitution C T intron_variant LIRI-JP X 54029418 54029418 single base substitution C T upstream_gene_variant LIRI-JP X 54030912 54030912 single base substitution T C intron_variant LIRI-JP X 54030912 54030912 single base substitution T C upstream_gene_variant LIRI-JP X 54036177 54036177 single base substitution G A intron_variant LIRI-JP X 54038043 54038043 single base substitution T C intron_variant LIRI-JP X 54038043 54038043 single base substitution T C upstream_gene_variant LIRI-JP X 54039965 54039965 single base substitution G C downstream_gene_variant LIRI-JP X 54039965 54039965 single base substitution G C intron_variant LIRI-JP X 54039965 54039965 single base substitution G C upstream_gene_variant LIRI-JP X 54044588 54044588 single base substitution C T downstream_gene_variant LIRI-JP X 54044588 54044588 single base substitution C T intron_variant LIRI-JP X 54044588 54044588 single base substitution C T upstream_gene_variant LIRI-JP X 54044840 54044840 single base substitution G C downstream_gene_variant LIRI-JP X 54044840 54044840 single base substitution G C intron_variant LIRI-JP X 54044840 54044840 single base substitution G C upstream_gene_variant LIRI-JP X 54045088 54045088 single base substitution T C downstream_gene_variant LIRI-JP X 54045088 54045088 single base substitution T C intron_variant LIRI-JP X 54045088 54045088 single base substitution T C upstream_gene_variant LIRI-JP X 54053832 54053832 single base substitution G A intron_variant LIRI-JP X 54053870 54053870 single base substitution C A intron_variant LIRI-JP X 54059473 54059473 single base substitution C A intron_variant LIRI-JP X 54060546 54060546 single base substitution T C intron_variant LIRI-JP X 54060660 54060660 single base substitution C A intron_variant LIRI-JP X 54065156 54065156 single base substitution G A downstream_gene_variant LIRI-JP X 54065156 54065156 single base substitution G A intron_variant LIRI-JP X 54068041 54068041 single base substitution T C intron_variant LIRI-JP X 54068364 54068364 single base substitution T G intron_variant LUSC-KR X 53959969 53959969 single base substitution C A downstream_gene_variant LUSC-KR X 53970696 53970696 single base substitution A T exon_variant LUSC-KR X 53970696 53970696 single base substitution A T intron_variant LUSC-KR X 53976448 53976448 single base substitution A T intron_variant LUSC-KR X 53989869 53989869 single base substitution C T intron_variant LUSC-KR X 53993685 53993685 single base substitution G C intron_variant LUSC-KR X 53993753 53993753 single base substitution G C intron_variant LUSC-KR X 53993769 53993769 single base substitution C A intron_variant LUSC-KR X 53993769 53993769 single base substitution C T intron_variant LUSC-KR X 53993817 53993817 single base substitution C A intron_variant LUSC-KR X 53993862 53993862 single base substitution T C intron_variant LUSC-KR X 53993975 53993975 single base substitution C T intron_variant LUSC-KR X 53993989 53993989 single base substitution C T intron_variant LUSC-KR X 53994035 53994035 single base substitution A G intron_variant LUSC-KR X 53994107 53994107 single base substitution C T intron_variant LUSC-KR X 53994197 53994197 single base substitution G T intron_variant LUSC-KR X 53994311 53994311 single base substitution A G intron_variant LUSC-KR X 53994380 53994380 single base substitution T A intron_variant LUSC-KR X 54000628 54000628 single base substitution G T intron_variant LUSC-KR X 54003324 54003324 single base substitution G C intron_variant LUSC-KR X 54003678 54003678 single base substitution G C intron_variant LUSC-KR X 54012783 54012783 single base substitution T C downstream_gene_variant LUSC-KR X 54012783 54012783 single base substitution T C intron_variant LUSC-KR X 54015269 54015269 single base substitution C A downstream_gene_variant LUSC-KR X 54015269 54015269 single base substitution C A intron_variant LUSC-KR X 54021088 54021088 single base substitution T G downstream_gene_variant LUSC-KR X 54021088 54021088 single base substitution T G intron_variant LUSC-KR X 54021088 54021088 single base substitution T G upstream_gene_variant LUSC-KR X 54024003 54024003 single base substitution C A downstream_gene_variant LUSC-KR X 54024003 54024003 single base substitution C A intron_variant LUSC-KR X 54024003 54024003 single base substitution C A upstream_gene_variant LUSC-KR X 54024849 54024849 single base substitution T C downstream_gene_variant LUSC-KR X 54024849 54024849 single base substitution T C intron_variant LUSC-KR X 54027924 54027924 single base substitution G C intron_variant LUSC-KR X 54028078 54028078 single base substitution T A intron_variant LUSC-KR X 54029784 54029784 single base substitution C A intron_variant LUSC-KR X 54029784 54029784 single base substitution C A upstream_gene_variant LUSC-KR X 54032077 54032077 single base substitution T A intron_variant LUSC-KR X 54032077 54032077 single base substitution T A upstream_gene_variant LUSC-KR X 54039393 54039393 single base substitution T G downstream_gene_variant LUSC-KR X 54039393 54039393 single base substitution T G intron_variant LUSC-KR X 54039393 54039393 single base substitution T G upstream_gene_variant LUSC-KR X 54059146 54059146 single base substitution A C intron_variant LUSC-KR X 54060377 54060377 single base substitution T A intron_variant LUSC-KR X 54072101 54072101 single base substitution C T intron_variant LUSC-KR X 54072101 54072101 single base substitution C T upstream_gene_variant LUSC-KR X 54072783 54072783 single base substitution C T intron_variant LUSC-KR X 54072783 54072783 single base substitution C T upstream_gene_variant LUSC-KR X 54074128 54074128 single base substitution G C intron_variant LUSC-KR X 54074128 54074128 single base substitution G C upstream_gene_variant LUSC-KR X 54074149 54074149 single base substitution G C intron_variant LUSC-KR X 54074149 54074149 single base substitution G C upstream_gene_variant LUSC-KR X 54075421 54075421 single base substitution T A upstream_gene_variant LUSC-KR X 54075431 54075431 single base substitution T A upstream_gene_variant LUSC-US X 54012307 54012307 single base substitution T C downstream_gene_variant LUSC-US X 54012307 54012307 single base substitution T C intron_variant LUSC-US X 54012307 54012307 single base substitution T C missense_variant I454V 1360A>G LUSC-US X 54012307 54012307 single base substitution T C missense_variant I590V 1768A>G LUSC-US X 54012307 54012307 single base substitution T C missense_variant I594V 1780A>G LUSC-US X 54012307 54012307 single base substitution T C missense_variant I691V 2071A>G LUSC-US X 54012307 54012307 single base substitution T C missense_variant I727V 2179A>G LUSC-US X 54022203 54022203 single base substitution G A downstream_gene_variant LUSC-US X 54022203 54022203 single base substitution G A exon_variant LUSC-US X 54022203 54022203 single base substitution G A missense_variant H179Y 535C>T LUSC-US X 54022203 54022203 single base substitution G A missense_variant H319Y 955C>T LUSC-US X 54022203 54022203 single base substitution G A missense_variant H416Y 1246C>T LUSC-US X 54022203 54022203 single base substitution G A missense_variant H452Y 1354C>T LUSC-US X 54022203 54022203 single base substitution G A missense_variant H96Y 286C>T LUSC-US X 54022203 54022203 single base substitution G A upstream_gene_variant LUSC-US X 54049215 54049215 single base substitution C A stop_gained E54* 160G>T LUSC-US X 54049215 54049215 single base substitution C A stop_gained E90* 268G>T LUSC-US X 54049215 54049215 single base substitution C A upstream_gene_variant MALY-DE X 53959150 53959150 single base substitution A T downstream_gene_variant MALY-DE X 53959812 53959812 insertion of <=200bp - TA downstream_gene_variant MALY-DE X 53959812 53959813 deletion of <=200bp TA - downstream_gene_variant MALY-DE X 53960452 53960452 single base substitution G T downstream_gene_variant MALY-DE X 53968641 53968641 single base substitution C T downstream_gene_variant MALY-DE X 53968641 53968641 single base substitution C T intron_variant MALY-DE X 53974578 53974578 insertion of <=200bp - A intron_variant MALY-DE X 53974578 53974578 insertion of <=200bp - A upstream_gene_variant MALY-DE X 53979996 53979996 single base substitution G T intron_variant MALY-DE X 53981076 53981077 deletion of <=200bp AT - intron_variant MALY-DE X 53983109 53983110 deletion of <=200bp GT - intron_variant MALY-DE X 53985187 53985187 single base substitution C T intron_variant MALY-DE X 53987253 53987253 single base substitution G A intron_variant MALY-DE X 53990922 53990922 single base substitution T C intron_variant MALY-DE X 53995769 53995769 insertion of <=200bp - A intron_variant MALY-DE X 54000699 54000699 insertion of <=200bp - A intron_variant MALY-DE X 54002549 54002549 single base substitution C A intron_variant MALY-DE X 54003170 54003170 single base substitution A G intron_variant MALY-DE X 54003172 54003172 single base substitution A G intron_variant MALY-DE X 54003848 54003848 single base substitution C T intron_variant MALY-DE X 54012429 54012429 single base substitution G C downstream_gene_variant MALY-DE X 54012429 54012429 single base substitution G C intron_variant MALY-DE X 54017745 54017745 single base substitution A T downstream_gene_variant MALY-DE X 54017745 54017745 single base substitution A T intron_variant MALY-DE X 54020495 54020495 single base substitution A T intron_variant MALY-DE X 54020495 54020495 single base substitution A T upstream_gene_variant MALY-DE X 54028596 54028596 single base substitution A C exon_variant MALY-DE X 54028596 54028596 single base substitution A C missense_variant I141S 422T>G MALY-DE X 54028596 54028596 single base substitution A C missense_variant I281S 842T>G MALY-DE X 54028596 54028596 single base substitution A C missense_variant I378S 1133T>G MALY-DE X 54028596 54028596 single base substitution A C missense_variant I414S 1241T>G MALY-DE X 54028596 54028596 single base substitution A C missense_variant I58S 173T>G MALY-DE X 54032099 54032099 single base substitution A G intron_variant MALY-DE X 54032099 54032099 single base substitution A G upstream_gene_variant MALY-DE X 54036265 54036265 single base substitution G A intron_variant MALY-DE X 54036561 54036561 deletion of <=200bp A - intron_variant MALY-DE X 54038288 54038288 single base substitution A G intron_variant MALY-DE X 54038288 54038288 single base substitution A G upstream_gene_variant MALY-DE X 54038341 54038341 single base substitution A G intron_variant MALY-DE X 54038341 54038341 single base substitution A G upstream_gene_variant MALY-DE X 54043246 54043246 single base substitution T C downstream_gene_variant MALY-DE X 54043246 54043246 single base substitution T C intron_variant MALY-DE X 54043246 54043246 single base substitution T C upstream_gene_variant MALY-DE X 54043318 54043318 single base substitution G A downstream_gene_variant MALY-DE X 54043318 54043318 single base substitution G A intron_variant MALY-DE X 54043318 54043318 single base substitution G A upstream_gene_variant MALY-DE X 54045403 54045403 insertion of <=200bp - A downstream_gene_variant MALY-DE X 54045403 54045403 insertion of <=200bp - A intron_variant MALY-DE X 54045403 54045403 insertion of <=200bp - A upstream_gene_variant MALY-DE X 54054418 54054419 deletion of <=200bp CA - intron_variant MALY-DE X 54057838 54057838 single base substitution C T intron_variant MALY-DE X 54060480 54060480 single base substitution A G intron_variant MALY-DE X 54070700 54070700 single base substitution G A intron_variant MALY-DE X 54070700 54070700 single base substitution G A upstream_gene_variant MALY-DE X 54073682 54073682 single base substitution G A intron_variant MALY-DE X 54073682 54073682 single base substitution G A upstream_gene_variant MELA-AU X 53958118 53958118 single base substitution G A downstream_gene_variant MELA-AU X 53958135 53958136 multiple base substitution (>=2bp and <=200bp) CT GA downstream_gene_variant MELA-AU X 53958476 53958476 single base substitution G A downstream_gene_variant MELA-AU X 53958520 53958520 single base substitution T A downstream_gene_variant MELA-AU X 53959739 53959739 single base substitution G A downstream_gene_variant MELA-AU X 53959949 53959949 single base substitution G A downstream_gene_variant MELA-AU X 53959955 53959955 single base substitution G A downstream_gene_variant MELA-AU X 53960401 53960401 single base substitution C T downstream_gene_variant MELA-AU X 53960434 53960434 single base substitution G A downstream_gene_variant MELA-AU X 53960578 53960578 single base substitution C T downstream_gene_variant MELA-AU X 53960636 53960636 single base substitution C T downstream_gene_variant MELA-AU X 53960876 53960876 single base substitution G A downstream_gene_variant MELA-AU X 53960879 53960879 single base substitution A T downstream_gene_variant MELA-AU X 53961075 53961076 deletion of <=200bp AC - downstream_gene_variant MELA-AU X 53961462 53961462 single base substitution C A downstream_gene_variant MELA-AU X 53961513 53961513 single base substitution A C downstream_gene_variant MELA-AU X 53961867 53961867 single base substitution C T downstream_gene_variant MELA-AU X 53962197 53962197 single base substitution G A downstream_gene_variant MELA-AU X 53962376 53962376 single base substitution G A downstream_gene_variant MELA-AU X 53962794 53962794 single base substitution C T downstream_gene_variant MELA-AU X 53963148 53963148 single base substitution G A 3_prime_UTR_variant MELA-AU X 53963148 53963148 single base substitution G A downstream_gene_variant MELA-AU X 53963554 53963555 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU X 53963554 53963555 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU X 53963588 53963588 single base substitution C T 3_prime_UTR_variant MELA-AU X 53963588 53963588 single base substitution C T downstream_gene_variant MELA-AU X 53963717 53963717 single base substitution C T 3_prime_UTR_variant MELA-AU X 53963717 53963717 single base substitution C T downstream_gene_variant MELA-AU X 53963728 53963728 single base substitution G A 3_prime_UTR_variant MELA-AU X 53963728 53963728 single base substitution G A downstream_gene_variant MELA-AU X 53963938 53963938 single base substitution G A 3_prime_UTR_variant MELA-AU X 53963938 53963938 single base substitution G A downstream_gene_variant MELA-AU X 53964001 53964001 single base substitution G A 3_prime_UTR_variant MELA-AU X 53964001 53964001 single base substitution G A downstream_gene_variant MELA-AU X 53964003 53964003 single base substitution G A 3_prime_UTR_variant MELA-AU X 53964003 53964003 single base substitution G A downstream_gene_variant MELA-AU X 53964133 53964133 single base substitution A C 3_prime_UTR_variant MELA-AU X 53964133 53964133 single base substitution A C downstream_gene_variant MELA-AU X 53964389 53964389 single base substitution A T 3_prime_UTR_variant MELA-AU X 53964389 53964389 single base substitution A T downstream_gene_variant MELA-AU X 53964517 53964517 single base substitution G A 3_prime_UTR_variant MELA-AU X 53964517 53964517 single base substitution G A downstream_gene_variant MELA-AU X 53964517 53964517 single base substitution G A intron_variant MELA-AU X 53965193 53965193 single base substitution A T 3_prime_UTR_variant MELA-AU X 53965193 53965193 single base substitution A T downstream_gene_variant MELA-AU X 53965193 53965193 single base substitution A T intron_variant MELA-AU X 53965261 53965261 single base substitution C T 3_prime_UTR_variant MELA-AU X 53965261 53965261 single base substitution C T downstream_gene_variant MELA-AU X 53965261 53965261 single base substitution C T intron_variant MELA-AU X 53965392 53965392 single base substitution G A 3_prime_UTR_variant MELA-AU X 53965392 53965392 single base substitution G A downstream_gene_variant MELA-AU X 53965392 53965392 single base substitution G A intron_variant MELA-AU X 53965558 53965558 single base substitution G A 3_prime_UTR_variant MELA-AU X 53965558 53965558 single base substitution G A downstream_gene_variant MELA-AU X 53965558 53965558 single base substitution G A intron_variant MELA-AU X 53965565 53965565 single base substitution G A 3_prime_UTR_variant MELA-AU X 53965565 53965565 single base substitution G A downstream_gene_variant MELA-AU X 53965565 53965565 single base substitution G A intron_variant MELA-AU X 53965578 53965578 single base substitution G A 3_prime_UTR_variant MELA-AU X 53965578 53965578 single base substitution G A downstream_gene_variant MELA-AU X 53965578 53965578 single base substitution G A intron_variant MELA-AU X 53965695 53965695 single base substitution A T downstream_gene_variant MELA-AU X 53965695 53965695 single base substitution A T intron_variant MELA-AU X 53966556 53966556 single base substitution G A downstream_gene_variant MELA-AU X 53966556 53966556 single base substitution G A intron_variant MELA-AU X 53967000 53967000 single base substitution T C downstream_gene_variant MELA-AU X 53967000 53967000 single base substitution T C intron_variant MELA-AU X 53968322 53968322 single base substitution G A downstream_gene_variant MELA-AU X 53968322 53968322 single base substitution G A intron_variant MELA-AU X 53968767 53968767 single base substitution C T downstream_gene_variant MELA-AU X 53968767 53968767 single base substitution C T intron_variant MELA-AU X 53968911 53968911 single base substitution G A downstream_gene_variant MELA-AU X 53968911 53968911 single base substitution G A intron_variant MELA-AU X 53969402 53969402 single base substitution G A 3_prime_UTR_variant MELA-AU X 53969402 53969402 single base substitution G A downstream_gene_variant MELA-AU X 53969402 53969402 single base substitution G A intron_variant MELA-AU X 53970264 53970264 single base substitution G A intron_variant MELA-AU X 53970890 53970890 single base substitution G A exon_variant MELA-AU X 53970890 53970890 single base substitution G A intron_variant MELA-AU X 53971606 53971606 single base substitution G A intron_variant MELA-AU X 53971606 53971606 single base substitution G A upstream_gene_variant MELA-AU X 53971710 53971710 single base substitution G A intron_variant MELA-AU X 53971710 53971710 single base substitution G A upstream_gene_variant MELA-AU X 53971798 53971798 single base substitution C T intron_variant MELA-AU X 53971798 53971798 single base substitution C T upstream_gene_variant MELA-AU X 53972151 53972151 single base substitution C T intron_variant MELA-AU X 53972151 53972151 single base substitution C T upstream_gene_variant MELA-AU X 53972179 53972179 single base substitution A C intron_variant MELA-AU X 53972179 53972179 single base substitution A C upstream_gene_variant MELA-AU X 53972463 53972463 single base substitution C T intron_variant MELA-AU X 53972463 53972463 single base substitution C T upstream_gene_variant MELA-AU X 53973837 53973837 single base substitution G A intron_variant MELA-AU X 53973837 53973837 single base substitution G A upstream_gene_variant MELA-AU X 53974063 53974063 single base substitution C T intron_variant MELA-AU X 53974063 53974063 single base substitution C T upstream_gene_variant MELA-AU X 53974078 53974078 single base substitution G A intron_variant MELA-AU X 53974078 53974078 single base substitution G A upstream_gene_variant MELA-AU X 53974577 53974577 single base substitution G A intron_variant MELA-AU X 53974577 53974577 single base substitution G A upstream_gene_variant MELA-AU X 53974655 53974655 single base substitution G A intron_variant MELA-AU X 53974655 53974655 single base substitution G A upstream_gene_variant MELA-AU X 53975275 53975275 single base substitution G A intron_variant MELA-AU X 53975275 53975275 single base substitution G A upstream_gene_variant MELA-AU X 53975809 53975809 single base substitution A T intron_variant MELA-AU X 53975809 53975809 single base substitution A T upstream_gene_variant MELA-AU X 53976807 53976807 single base substitution A T intron_variant MELA-AU X 53977036 53977036 single base substitution G A intron_variant MELA-AU X 53977645 53977645 single base substitution G A intron_variant MELA-AU X 53977863 53977863 single base substitution C T intron_variant MELA-AU X 53978101 53978101 single base substitution G A intron_variant MELA-AU X 53978466 53978466 single base substitution C T intron_variant MELA-AU X 53979366 53979366 single base substitution G A intron_variant MELA-AU X 53979675 53979675 single base substitution C T intron_variant MELA-AU X 53980208 53980208 single base substitution G A intron_variant MELA-AU X 53980599 53980599 single base substitution C T intron_variant MELA-AU X 53980827 53980827 single base substitution G A intron_variant MELA-AU X 53981632 53981632 single base substitution T A intron_variant MELA-AU X 53982419 53982419 single base substitution C T intron_variant MELA-AU X 53983998 53983998 single base substitution G A intron_variant MELA-AU X 53985779 53985779 single base substitution C T intron_variant MELA-AU X 53985936 53985936 single base substitution G A intron_variant MELA-AU X 53986055 53986055 single base substitution G A intron_variant MELA-AU X 53986154 53986154 single base substitution G A intron_variant MELA-AU X 53987254 53987254 single base substitution G A intron_variant MELA-AU X 53987257 53987257 single base substitution A T intron_variant MELA-AU X 53987422 53987422 single base substitution G A intron_variant MELA-AU X 53987435 53987435 single base substitution A C intron_variant MELA-AU X 53987783 53987783 single base substitution G A intron_variant MELA-AU X 53988224 53988224 single base substitution G A intron_variant MELA-AU X 53988777 53988778 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 53989258 53989258 single base substitution G A intron_variant MELA-AU X 53989366 53989366 single base substitution G A missense_variant P580L 1739C>T MELA-AU X 53989366 53989366 single base substitution G A missense_variant P716L 2147C>T MELA-AU X 53989366 53989366 single base substitution G A missense_variant P720L 2159C>T MELA-AU X 53989366 53989366 single base substitution G A missense_variant P800L 2399C>T MELA-AU X 53989366 53989366 single base substitution G A missense_variant P817L 2450C>T MELA-AU X 53989366 53989366 single base substitution G A missense_variant P853L 2558C>T MELA-AU X 53990272 53990272 single base substitution G A intron_variant MELA-AU X 53990821 53990821 single base substitution G A intron_variant MELA-AU X 53990821 53990822 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 53990822 53990822 single base substitution G A intron_variant MELA-AU X 53991642 53991642 single base substitution G A intron_variant MELA-AU X 53992168 53992168 single base substitution G A intron_variant MELA-AU X 53992417 53992417 single base substitution C T intron_variant MELA-AU X 53994553 53994553 single base substitution A G intron_variant MELA-AU X 53995089 53995089 single base substitution C T intron_variant MELA-AU X 53995156 53995157 deletion of <=200bp AT - intron_variant MELA-AU X 53995676 53995676 single base substitution C G intron_variant MELA-AU X 53995913 53995913 single base substitution A T intron_variant MELA-AU X 53995918 53995918 single base substitution T C intron_variant MELA-AU X 53996120 53996120 single base substitution A G intron_variant MELA-AU X 53996580 53996580 single base substitution A G intron_variant MELA-AU X 53996599 53996599 single base substitution G A intron_variant MELA-AU X 53999015 53999015 single base substitution G A intron_variant MELA-AU X 53999582 53999582 single base substitution G A intron_variant MELA-AU X 54000415 54000415 single base substitution G A intron_variant MELA-AU X 54000682 54000682 single base substitution G A intron_variant MELA-AU X 54001004 54001004 single base substitution G A intron_variant MELA-AU X 54001414 54001414 single base substitution G T intron_variant MELA-AU X 54001558 54001558 single base substitution G A intron_variant MELA-AU X 54002016 54002016 single base substitution G A intron_variant MELA-AU X 54002215 54002215 single base substitution G A intron_variant MELA-AU X 54002896 54002896 single base substitution A T intron_variant MELA-AU X 54003117 54003117 single base substitution A G intron_variant MELA-AU X 54003842 54003842 single base substitution A G intron_variant MELA-AU X 54004143 54004143 single base substitution G A intron_variant MELA-AU X 54004960 54004960 single base substitution A T intron_variant MELA-AU X 54005240 54005240 single base substitution A G intron_variant MELA-AU X 54006138 54006138 single base substitution A T intron_variant MELA-AU X 54006168 54006168 single base substitution G A intron_variant MELA-AU X 54006665 54006665 single base substitution C T intron_variant MELA-AU X 54007331 54007331 single base substitution C T intron_variant MELA-AU X 54007986 54007986 single base substitution G A intron_variant MELA-AU X 54008196 54008196 single base substitution A G intron_variant MELA-AU X 54008442 54008442 single base substitution G A intron_variant MELA-AU X 54008727 54008727 single base substitution G A intron_variant MELA-AU X 54008826 54008826 single base substitution T C intron_variant MELA-AU X 54009336 54009336 single base substitution G A downstream_gene_variant MELA-AU X 54009336 54009336 single base substitution G A intron_variant MELA-AU X 54009448 54009448 single base substitution G A downstream_gene_variant MELA-AU X 54009448 54009448 single base substitution G A intron_variant MELA-AU X 54009704 54009704 single base substitution G A downstream_gene_variant MELA-AU X 54009704 54009704 single base substitution G A intron_variant MELA-AU X 54009945 54009945 single base substitution G A downstream_gene_variant MELA-AU X 54009945 54009945 single base substitution G A intron_variant MELA-AU X 54010278 54010278 single base substitution G A downstream_gene_variant MELA-AU X 54010278 54010278 single base substitution G A intron_variant MELA-AU X 54010597 54010597 single base substitution G A downstream_gene_variant MELA-AU X 54010597 54010597 single base substitution G A intron_variant MELA-AU X 54011278 54011278 single base substitution G A downstream_gene_variant MELA-AU X 54011278 54011278 single base substitution G A intron_variant MELA-AU X 54013130 54013130 single base substitution G A downstream_gene_variant MELA-AU X 54013130 54013130 single base substitution G A intron_variant MELA-AU X 54013506 54013506 single base substitution C T downstream_gene_variant MELA-AU X 54013506 54013506 single base substitution C T splice_region_variant MELA-AU X 54014352 54014352 single base substitution T C downstream_gene_variant MELA-AU X 54014352 54014352 single base substitution T C exon_variant MELA-AU X 54014352 54014352 single base substitution T C missense_variant K349E 1045A>G MELA-AU X 54014352 54014352 single base substitution T C missense_variant K485E 1453A>G MELA-AU X 54014352 54014352 single base substitution T C missense_variant K489E 1465A>G MELA-AU X 54014352 54014352 single base substitution T C missense_variant K586E 1756A>G MELA-AU X 54014352 54014352 single base substitution T C missense_variant K622E 1864A>G MELA-AU X 54014753 54014753 single base substitution A C downstream_gene_variant MELA-AU X 54014753 54014753 single base substitution A C intron_variant MELA-AU X 54016582 54016582 single base substitution C T downstream_gene_variant MELA-AU X 54016582 54016582 single base substitution C T intron_variant MELA-AU X 54017588 54017588 single base substitution G A downstream_gene_variant MELA-AU X 54017588 54017588 single base substitution G A intron_variant MELA-AU X 54018114 54018114 single base substitution A C downstream_gene_variant MELA-AU X 54018114 54018114 single base substitution A C intron_variant MELA-AU X 54018425 54018425 single base substitution C T downstream_gene_variant MELA-AU X 54018425 54018425 single base substitution C T intron_variant MELA-AU X 54018618 54018618 single base substitution C T downstream_gene_variant MELA-AU X 54018618 54018618 single base substitution C T intron_variant MELA-AU X 54018683 54018683 single base substitution C A downstream_gene_variant MELA-AU X 54018683 54018683 single base substitution C A intron_variant MELA-AU X 54018961 54018961 single base substitution G A downstream_gene_variant MELA-AU X 54018961 54018961 single base substitution G A intron_variant MELA-AU X 54019093 54019093 single base substitution C T downstream_gene_variant MELA-AU X 54019093 54019093 single base substitution C T intron_variant MELA-AU X 54019160 54019160 single base substitution C T downstream_gene_variant MELA-AU X 54019160 54019160 single base substitution C T intron_variant MELA-AU X 54019547 54019547 single base substitution G T intron_variant MELA-AU X 54019547 54019547 single base substitution G T upstream_gene_variant MELA-AU X 54019701 54019701 single base substitution C T intron_variant MELA-AU X 54019701 54019701 single base substitution C T upstream_gene_variant MELA-AU X 54019800 54019800 single base substitution G A intron_variant MELA-AU X 54019800 54019800 single base substitution G A upstream_gene_variant MELA-AU X 54019911 54019911 single base substitution G C intron_variant MELA-AU X 54019911 54019911 single base substitution G C upstream_gene_variant MELA-AU X 54019971 54019971 single base substitution G A intron_variant MELA-AU X 54019971 54019971 single base substitution G A upstream_gene_variant MELA-AU X 54020165 54020165 single base substitution C T intron_variant MELA-AU X 54020165 54020165 single base substitution C T missense_variant E262K 784G>A MELA-AU X 54020165 54020165 single base substitution C T missense_variant E402K 1204G>A MELA-AU X 54020165 54020165 single base substitution C T missense_variant E499K 1495G>A MELA-AU X 54020165 54020165 single base substitution C T missense_variant E535K 1603G>A MELA-AU X 54020165 54020165 single base substitution C T upstream_gene_variant MELA-AU X 54020212 54020212 single base substitution G A intron_variant MELA-AU X 54020212 54020212 single base substitution G A missense_variant S246L 737C>T MELA-AU X 54020212 54020212 single base substitution G A missense_variant S386L 1157C>T MELA-AU X 54020212 54020212 single base substitution G A missense_variant S483L 1448C>T MELA-AU X 54020212 54020212 single base substitution G A missense_variant S519L 1556C>T MELA-AU X 54020212 54020212 single base substitution G A upstream_gene_variant MELA-AU X 54020261 54020261 single base substitution G A intron_variant MELA-AU X 54020261 54020261 single base substitution G A missense_variant P230S 688C>T MELA-AU X 54020261 54020261 single base substitution G A missense_variant P370S 1108C>T MELA-AU X 54020261 54020261 single base substitution G A missense_variant P467S 1399C>T MELA-AU X 54020261 54020261 single base substitution G A missense_variant P503S 1507C>T MELA-AU X 54020261 54020261 single base substitution G A upstream_gene_variant MELA-AU X 54020755 54020755 single base substitution G C intron_variant MELA-AU X 54020755 54020755 single base substitution G C upstream_gene_variant MELA-AU X 54021103 54021103 single base substitution G A downstream_gene_variant MELA-AU X 54021103 54021103 single base substitution G A intron_variant MELA-AU X 54021103 54021103 single base substitution G A upstream_gene_variant MELA-AU X 54022424 54022424 single base substitution G A downstream_gene_variant MELA-AU X 54022424 54022424 single base substitution G A intron_variant MELA-AU X 54022424 54022424 single base substitution G A upstream_gene_variant MELA-AU X 54023310 54023310 single base substitution T C downstream_gene_variant MELA-AU X 54023310 54023310 single base substitution T C intron_variant MELA-AU X 54023310 54023310 single base substitution T C upstream_gene_variant MELA-AU X 54023365 54023365 single base substitution C T downstream_gene_variant MELA-AU X 54023365 54023365 single base substitution C T intron_variant MELA-AU X 54023365 54023365 single base substitution C T upstream_gene_variant MELA-AU X 54023801 54023801 single base substitution G A downstream_gene_variant MELA-AU X 54023801 54023801 single base substitution G A intron_variant MELA-AU X 54023801 54023801 single base substitution G A upstream_gene_variant MELA-AU X 54024647 54024647 single base substitution G A downstream_gene_variant MELA-AU X 54024647 54024647 single base substitution G A intron_variant MELA-AU X 54024969 54024969 single base substitution C T downstream_gene_variant MELA-AU X 54024969 54024969 single base substitution C T intron_variant MELA-AU X 54026005 54026005 single base substitution G A exon_variant MELA-AU X 54026005 54026005 single base substitution G A intron_variant MELA-AU X 54026917 54026917 single base substitution C T intron_variant MELA-AU X 54027219 54027219 single base substitution C G intron_variant MELA-AU X 54027252 54027253 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 54027741 54027741 single base substitution G A intron_variant MELA-AU X 54027799 54027799 single base substitution G A intron_variant MELA-AU X 54028488 54028488 single base substitution G A intron_variant MELA-AU X 54028646 54028646 single base substitution G A exon_variant MELA-AU X 54028646 54028646 single base substitution G A synonymous_variant F124F 372C>T MELA-AU X 54028646 54028646 single base substitution G A synonymous_variant F264F 792C>T MELA-AU X 54028646 54028646 single base substitution G A synonymous_variant F361F 1083C>T MELA-AU X 54028646 54028646 single base substitution G A synonymous_variant F397F 1191C>T MELA-AU X 54028646 54028646 single base substitution G A synonymous_variant F41F 123C>T MELA-AU X 54029921 54029921 single base substitution C G intron_variant MELA-AU X 54029921 54029921 single base substitution C G upstream_gene_variant MELA-AU X 54030268 54030268 single base substitution T C intron_variant MELA-AU X 54030268 54030268 single base substitution T C upstream_gene_variant MELA-AU X 54030738 54030738 single base substitution A T intron_variant MELA-AU X 54030738 54030738 single base substitution A T upstream_gene_variant MELA-AU X 54031306 54031306 single base substitution G T intron_variant MELA-AU X 54031306 54031306 single base substitution G T upstream_gene_variant MELA-AU X 54031470 54031470 single base substitution C T intron_variant MELA-AU X 54031470 54031470 single base substitution C T upstream_gene_variant MELA-AU X 54031519 54031520 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 54031519 54031520 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU X 54032427 54032427 single base substitution G A intron_variant MELA-AU X 54032427 54032427 single base substitution G A upstream_gene_variant MELA-AU X 54032902 54032902 single base substitution G A intron_variant MELA-AU X 54032902 54032902 single base substitution G A upstream_gene_variant MELA-AU X 54033215 54033215 single base substitution G A intron_variant MELA-AU X 54033215 54033215 single base substitution G A upstream_gene_variant MELA-AU X 54033646 54033646 single base substitution G T intron_variant MELA-AU X 54033646 54033646 single base substitution G T upstream_gene_variant MELA-AU X 54034241 54034241 single base substitution A G intron_variant MELA-AU X 54034353 54034353 single base substitution G A intron_variant MELA-AU X 54034695 54034695 single base substitution G A intron_variant MELA-AU X 54035025 54035025 single base substitution G A intron_variant MELA-AU X 54035136 54035136 single base substitution G A intron_variant MELA-AU X 54035326 54035326 single base substitution C T intron_variant MELA-AU X 54035782 54035782 single base substitution A G intron_variant MELA-AU X 54035917 54035917 single base substitution G A intron_variant MELA-AU X 54035993 54035993 single base substitution G A intron_variant MELA-AU X 54036579 54036579 single base substitution C G intron_variant MELA-AU X 54036982 54036982 single base substitution G A intron_variant MELA-AU X 54037197 54037197 single base substitution G A intron_variant MELA-AU X 54037552 54037552 single base substitution G A intron_variant MELA-AU X 54037552 54037552 single base substitution G A splice_region_variant MELA-AU X 54037816 54037816 single base substitution G A intron_variant MELA-AU X 54037816 54037816 single base substitution G A upstream_gene_variant MELA-AU X 54038766 54038766 single base substitution G A intron_variant MELA-AU X 54038766 54038766 single base substitution G A upstream_gene_variant MELA-AU X 54040319 54040319 single base substitution G A downstream_gene_variant MELA-AU X 54040319 54040319 single base substitution G A intron_variant MELA-AU X 54040319 54040319 single base substitution G A upstream_gene_variant MELA-AU X 54040664 54040664 single base substitution A T downstream_gene_variant MELA-AU X 54040664 54040664 single base substitution A T intron_variant MELA-AU X 54040664 54040664 single base substitution A T upstream_gene_variant MELA-AU X 54041121 54041121 single base substitution C T downstream_gene_variant MELA-AU X 54041121 54041121 single base substitution C T intron_variant MELA-AU X 54041121 54041121 single base substitution C T upstream_gene_variant MELA-AU X 54041806 54041806 single base substitution G A downstream_gene_variant MELA-AU X 54041806 54041806 single base substitution G A intron_variant MELA-AU X 54041806 54041806 single base substitution G A upstream_gene_variant MELA-AU X 54041919 54041919 single base substitution G A downstream_gene_variant MELA-AU X 54041919 54041919 single base substitution G A intron_variant MELA-AU X 54041919 54041919 single base substitution G A upstream_gene_variant MELA-AU X 54042451 54042451 single base substitution G A downstream_gene_variant MELA-AU X 54042451 54042451 single base substitution G A intron_variant MELA-AU X 54042451 54042451 single base substitution G A upstream_gene_variant MELA-AU X 54042637 54042637 single base substitution G A downstream_gene_variant MELA-AU X 54042637 54042637 single base substitution G A intron_variant MELA-AU X 54042637 54042637 single base substitution G A upstream_gene_variant MELA-AU X 54042781 54042781 single base substitution G C downstream_gene_variant MELA-AU X 54042781 54042781 single base substitution G C intron_variant MELA-AU X 54042781 54042781 single base substitution G C upstream_gene_variant MELA-AU X 54043829 54043829 single base substitution G A downstream_gene_variant MELA-AU X 54043829 54043829 single base substitution G A intron_variant MELA-AU X 54043829 54043829 single base substitution G A upstream_gene_variant MELA-AU X 54043868 54043868 single base substitution G A downstream_gene_variant MELA-AU X 54043868 54043868 single base substitution G A intron_variant MELA-AU X 54043868 54043868 single base substitution G A upstream_gene_variant MELA-AU X 54043889 54043889 single base substitution G A downstream_gene_variant MELA-AU X 54043889 54043889 single base substitution G A intron_variant MELA-AU X 54043889 54043889 single base substitution G A upstream_gene_variant MELA-AU X 54043944 54043944 single base substitution C T downstream_gene_variant MELA-AU X 54043944 54043944 single base substitution C T intron_variant MELA-AU X 54043944 54043944 single base substitution C T upstream_gene_variant MELA-AU X 54044006 54044006 single base substitution G A downstream_gene_variant MELA-AU X 54044006 54044006 single base substitution G A intron_variant MELA-AU X 54044006 54044006 single base substitution G A upstream_gene_variant MELA-AU X 54044451 54044451 single base substitution G A downstream_gene_variant MELA-AU X 54044451 54044451 single base substitution G A intron_variant MELA-AU X 54044451 54044451 single base substitution G A upstream_gene_variant MELA-AU X 54046409 54046409 single base substitution G A downstream_gene_variant MELA-AU X 54046409 54046409 single base substitution G A intron_variant MELA-AU X 54047525 54047525 single base substitution G T downstream_gene_variant MELA-AU X 54047525 54047525 single base substitution G T intron_variant MELA-AU X 54048260 54048261 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU X 54048260 54048261 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 54048603 54048603 single base substitution G A downstream_gene_variant MELA-AU X 54048603 54048603 single base substitution G A intron_variant MELA-AU X 54048790 54048790 single base substitution G A synonymous_variant R101R 303C>T MELA-AU X 54048790 54048790 single base substitution G A synonymous_variant R65R 195C>T MELA-AU X 54048790 54048790 single base substitution G A upstream_gene_variant MELA-AU X 54049133 54049133 single base substitution C T intron_variant MELA-AU X 54049133 54049133 single base substitution C T upstream_gene_variant MELA-AU X 54049594 54049594 single base substitution G A intron_variant MELA-AU X 54049594 54049594 single base substitution G A upstream_gene_variant MELA-AU X 54049749 54049749 single base substitution G A intron_variant MELA-AU X 54049749 54049749 single base substitution G A upstream_gene_variant MELA-AU X 54049783 54049783 single base substitution G A intron_variant MELA-AU X 54049783 54049783 single base substitution G A upstream_gene_variant MELA-AU X 54050132 54050132 single base substitution C T intron_variant MELA-AU X 54050132 54050132 single base substitution C T upstream_gene_variant MELA-AU X 54050351 54050351 single base substitution G A intron_variant MELA-AU X 54050351 54050351 single base substitution G A upstream_gene_variant MELA-AU X 54050731 54050731 single base substitution G A intron_variant MELA-AU X 54050731 54050731 single base substitution G A upstream_gene_variant MELA-AU X 54050972 54050972 single base substitution C A intron_variant MELA-AU X 54050972 54050972 single base substitution C A upstream_gene_variant MELA-AU X 54051695 54051695 single base substitution G A intron_variant MELA-AU X 54051695 54051695 single base substitution G A upstream_gene_variant MELA-AU X 54052022 54052022 single base substitution G A intron_variant MELA-AU X 54052022 54052022 single base substitution G A upstream_gene_variant MELA-AU X 54052041 54052041 single base substitution C A intron_variant MELA-AU X 54052041 54052041 single base substitution C A upstream_gene_variant MELA-AU X 54052713 54052713 single base substitution G T intron_variant MELA-AU X 54052713 54052713 single base substitution G T upstream_gene_variant MELA-AU X 54052908 54052908 single base substitution C A intron_variant MELA-AU X 54052908 54052908 single base substitution C A upstream_gene_variant MELA-AU X 54053152 54053153 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 54053152 54053153 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU X 54053704 54053704 single base substitution C A intron_variant MELA-AU X 54054006 54054006 single base substitution C T intron_variant MELA-AU X 54054064 54054064 single base substitution C T intron_variant MELA-AU X 54054861 54054861 single base substitution G A intron_variant MELA-AU X 54055144 54055144 single base substitution C T intron_variant MELA-AU X 54056131 54056131 single base substitution C T intron_variant MELA-AU X 54056262 54056262 single base substitution C T intron_variant MELA-AU X 54057870 54057870 single base substitution G A intron_variant MELA-AU X 54057956 54057956 single base substitution G A intron_variant MELA-AU X 54059739 54059741 deletion of <=200bp CAA - intron_variant MELA-AU X 54060116 54060116 single base substitution C T intron_variant MELA-AU X 54060752 54060752 single base substitution G A intron_variant MELA-AU X 54060771 54060771 single base substitution G A intron_variant MELA-AU X 54061725 54061727 multiple base substitution (>=2bp and <=200bp) GGT AAG downstream_gene_variant MELA-AU X 54061725 54061727 multiple base substitution (>=2bp and <=200bp) GGT AAG intron_variant MELA-AU X 54062273 54062273 single base substitution A G downstream_gene_variant MELA-AU X 54062273 54062273 single base substitution A G intron_variant MELA-AU X 54063542 54063542 single base substitution G A downstream_gene_variant MELA-AU X 54063542 54063542 single base substitution G A intron_variant MELA-AU X 54064843 54064843 single base substitution G A downstream_gene_variant MELA-AU X 54064843 54064843 single base substitution G A intron_variant MELA-AU X 54065090 54065090 single base substitution A G downstream_gene_variant MELA-AU X 54065090 54065090 single base substitution A G intron_variant MELA-AU X 54065140 54065140 single base substitution G C downstream_gene_variant MELA-AU X 54065140 54065140 single base substitution G C intron_variant MELA-AU X 54065354 54065354 single base substitution G A downstream_gene_variant MELA-AU X 54065354 54065354 single base substitution G A intron_variant MELA-AU X 54066344 54066344 single base substitution G A exon_variant MELA-AU X 54066344 54066344 single base substitution G A intron_variant MELA-AU X 54067416 54067416 single base substitution G A intron_variant MELA-AU X 54067450 54067450 single base substitution G A intron_variant MELA-AU X 54067615 54067615 single base substitution C G intron_variant MELA-AU X 54068310 54068310 single base substitution A G intron_variant MELA-AU X 54068339 54068339 single base substitution A G intron_variant MELA-AU X 54068645 54068645 single base substitution A T intron_variant MELA-AU X 54069841 54069841 single base substitution C T intron_variant MELA-AU X 54069841 54069841 single base substitution C T upstream_gene_variant MELA-AU X 54070034 54070034 single base substitution G A intron_variant MELA-AU X 54070034 54070034 single base substitution G A upstream_gene_variant MELA-AU X 54070428 54070428 single base substitution A G 5_prime_UTR_variant MELA-AU X 54070428 54070428 single base substitution A G intron_variant MELA-AU X 54070428 54070428 single base substitution A G upstream_gene_variant MELA-AU X 54070927 54070927 single base substitution G A intron_variant MELA-AU X 54070927 54070927 single base substitution G A upstream_gene_variant MELA-AU X 54071577 54071592 deletion of <=200bp CTGTTTCACTTCAGTT - 5_prime_UTR_variant MELA-AU X 54071577 54071592 deletion of <=200bp CTGTTTCACTTCAGTT - intron_variant MELA-AU X 54071577 54071592 deletion of <=200bp CTGTTTCACTTCAGTT - upstream_gene_variant MELA-AU X 54071936 54071936 single base substitution G A intron_variant MELA-AU X 54071936 54071936 single base substitution G A upstream_gene_variant MELA-AU X 54072092 54072092 single base substitution G A intron_variant MELA-AU X 54072092 54072092 single base substitution G A upstream_gene_variant MELA-AU X 54073091 54073091 single base substitution C T intron_variant MELA-AU X 54073091 54073091 single base substitution C T upstream_gene_variant MELA-AU X 54073590 54073590 single base substitution G A intron_variant MELA-AU X 54073590 54073590 single base substitution G A upstream_gene_variant MELA-AU X 54073784 54073784 single base substitution A T intron_variant MELA-AU X 54073784 54073784 single base substitution A T upstream_gene_variant MELA-AU X 54074387 54074388 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 54074387 54074388 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU X 54074736 54074736 single base substitution G A intron_variant MELA-AU X 54074736 54074736 single base substitution G A upstream_gene_variant MELA-AU X 54074808 54074808 single base substitution T C intron_variant MELA-AU X 54074808 54074808 single base substitution T C upstream_gene_variant MELA-AU X 54075798 54075798 single base substitution C T upstream_gene_variant MELA-AU X 54076032 54076032 single base substitution A G upstream_gene_variant MELA-AU X 54077070 54077070 single base substitution G A upstream_gene_variant MELA-AU X 54077157 54077157 single base substitution G A upstream_gene_variant MELA-AU X 54077519 54077519 single base substitution C T upstream_gene_variant MELA-AU X 54078206 54078206 single base substitution G A upstream_gene_variant MELA-AU X 54078481 54078481 single base substitution G A upstream_gene_variant MELA-AU X 54079381 54079381 single base substitution G A upstream_gene_variant MELA-AU X 54079481 54079482 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU X 54079635 54079635 single base substitution G A upstream_gene_variant MELA-AU X 54079664 54079664 single base substitution G A upstream_gene_variant MELA-AU X 54079726 54079726 single base substitution C A upstream_gene_variant MELA-AU X 54080315 54080315 single base substitution G A upstream_gene_variant MELA-AU X 54080334 54080334 single base substitution T C upstream_gene_variant ORCA-IN X 54014685 54014685 single base substitution C T downstream_gene_variant ORCA-IN X 54014685 54014685 single base substitution C T intron_variant ORCA-IN X 54029715 54029715 single base substitution G C intron_variant ORCA-IN X 54029715 54029715 single base substitution G C upstream_gene_variant ORCA-IN X 54031393 54031393 single base substitution T C intron_variant ORCA-IN X 54031393 54031393 single base substitution T C upstream_gene_variant ORCA-IN X 54040826 54040826 single base substitution C A downstream_gene_variant ORCA-IN X 54040826 54040826 single base substitution C A exon_variant ORCA-IN X 54040826 54040826 single base substitution C A missense_variant W159L 476G>T ORCA-IN X 54040826 54040826 single base substitution C A missense_variant W19L 56G>T ORCA-IN X 54040826 54040826 single base substitution C A missense_variant W256L 767G>T ORCA-IN X 54040826 54040826 single base substitution C A missense_variant W292L 875G>T ORCA-IN X 54040826 54040826 single base substitution C A upstream_gene_variant ORCA-IN X 54043169 54043169 single base substitution C A downstream_gene_variant ORCA-IN X 54043169 54043169 single base substitution C A missense_variant G152V 455G>T ORCA-IN X 54043169 54043169 single base substitution C A missense_variant G188V 563G>T ORCA-IN X 54043169 54043169 single base substitution C A missense_variant G55V 164G>T ORCA-IN X 54043169 54043169 single base substitution C A upstream_gene_variant ORCA-IN X 54044118 54044118 single base substitution C A downstream_gene_variant ORCA-IN X 54044118 54044118 single base substitution C A missense_variant V144L 430G>T ORCA-IN X 54044118 54044118 single base substitution C A missense_variant V180L 538G>T ORCA-IN X 54044118 54044118 single base substitution C A missense_variant V47L 139G>T ORCA-IN X 54044118 54044118 single base substitution C A upstream_gene_variant ORCA-IN X 54049201 54049201 single base substitution C A synonymous_variant G58G 174G>T ORCA-IN X 54049201 54049201 single base substitution C A synonymous_variant G94G 282G>T ORCA-IN X 54049201 54049201 single base substitution C A upstream_gene_variant OV-AU X 53958674 53958674 single base substitution C G downstream_gene_variant OV-AU X 53970713 53970713 single base substitution C T exon_variant OV-AU X 53970713 53970713 single base substitution C T intron_variant OV-AU X 53973897 53973897 single base substitution T A intron_variant OV-AU X 53973897 53973897 single base substitution T A upstream_gene_variant OV-AU X 53975428 53975428 single base substitution C A intron_variant OV-AU X 53975428 53975428 single base substitution C A upstream_gene_variant OV-AU X 53986515 53986515 single base substitution G T intron_variant OV-AU X 53988358 53988358 single base substitution T A intron_variant OV-AU X 53990325 53990325 single base substitution C A intron_variant OV-AU X 53998772 53998772 single base substitution A G intron_variant OV-AU X 54002317 54002317 single base substitution A C intron_variant OV-AU X 54003373 54003373 single base substitution C A intron_variant OV-AU X 54004197 54004197 single base substitution A G intron_variant OV-AU X 54008290 54008290 single base substitution C G intron_variant OV-AU X 54023254 54023254 single base substitution A G downstream_gene_variant OV-AU X 54023254 54023254 single base substitution A G intron_variant OV-AU X 54023254 54023254 single base substitution A G upstream_gene_variant OV-AU X 54029382 54029382 single base substitution C G intron_variant OV-AU X 54029382 54029382 single base substitution C G upstream_gene_variant OV-AU X 54031181 54031181 single base substitution G A intron_variant OV-AU X 54031181 54031181 single base substitution G A upstream_gene_variant OV-AU X 54032304 54032304 single base substitution C A intron_variant OV-AU X 54032304 54032304 single base substitution C A upstream_gene_variant OV-AU X 54034342 54034342 single base substitution C G intron_variant OV-AU X 54036230 54036230 single base substitution C A intron_variant OV-AU X 54041115 54041115 single base substitution C G downstream_gene_variant OV-AU X 54041115 54041115 single base substitution C G intron_variant OV-AU X 54041115 54041115 single base substitution C G upstream_gene_variant OV-AU X 54046947 54046947 single base substitution A T downstream_gene_variant OV-AU X 54046947 54046947 single base substitution A T intron_variant OV-AU X 54048243 54048243 single base substitution T A downstream_gene_variant OV-AU X 54048243 54048243 single base substitution T A intron_variant OV-AU X 54068926 54068926 single base substitution G A intron_variant OV-AU X 54070369 54070369 single base substitution C T 5_prime_UTR_variant OV-AU X 54070369 54070369 single base substitution C T intron_variant OV-AU X 54070369 54070369 single base substitution C T upstream_gene_variant OV-AU X 54076214 54076214 single base substitution A C upstream_gene_variant OV-AU X 54076995 54076995 single base substitution A G upstream_gene_variant PACA-AU X 53968642 53968642 single base substitution A G downstream_gene_variant PACA-AU X 53968642 53968642 single base substitution A G intron_variant PACA-AU X 53973384 53973406 deletion of <=200bp CAATATATTAATAACTGTTCATT - intron_variant PACA-AU X 53973384 53973406 deletion of <=200bp CAATATATTAATAACTGTTCATT - upstream_gene_variant PACA-AU X 53974890 53974890 single base substitution G C intron_variant PACA-AU X 53974890 53974890 single base substitution G C upstream_gene_variant PACA-AU X 53976638 53976638 single base substitution C T intron_variant PACA-AU X 53988064 53988064 single base substitution T A intron_variant PACA-AU X 53995061 53995061 single base substitution G T intron_variant PACA-AU X 54002786 54002786 single base substitution C T intron_variant PACA-AU X 54006039 54006039 single base substitution A G intron_variant PACA-AU X 54009426 54009426 single base substitution A G downstream_gene_variant PACA-AU X 54009426 54009426 single base substitution A G intron_variant PACA-AU X 54009734 54009734 insertion of <=200bp - A downstream_gene_variant PACA-AU X 54009734 54009734 insertion of <=200bp - A intron_variant PACA-AU X 54012367 54012367 single base substitution C G downstream_gene_variant PACA-AU X 54012367 54012367 single base substitution C G missense_variant D434H 1300G>C PACA-AU X 54012367 54012367 single base substitution C G missense_variant D570H 1708G>C PACA-AU X 54012367 54012367 single base substitution C G missense_variant D574H 1720G>C PACA-AU X 54012367 54012367 single base substitution C G missense_variant D671H 2011G>C PACA-AU X 54012367 54012367 single base substitution C G missense_variant D707H 2119G>C PACA-AU X 54013587 54013587 single base substitution C T downstream_gene_variant PACA-AU X 54013587 54013587 single base substitution C T missense_variant R403Q 1208G>A PACA-AU X 54013587 54013587 single base substitution C T missense_variant R539Q 1616G>A PACA-AU X 54013587 54013587 single base substitution C T missense_variant R543Q 1628G>A PACA-AU X 54013587 54013587 single base substitution C T missense_variant R640Q 1919G>A PACA-AU X 54013587 54013587 single base substitution C T missense_variant R676Q 2027G>A PACA-AU X 54026389 54026389 single base substitution G A exon_variant PACA-AU X 54026389 54026389 single base substitution G A stop_gained R146* 436C>T PACA-AU X 54026389 54026389 single base substitution G A stop_gained R286* 856C>T PACA-AU X 54026389 54026389 single base substitution G A stop_gained R383* 1147C>T PACA-AU X 54026389 54026389 single base substitution G A stop_gained R419* 1255C>T PACA-AU X 54026389 54026389 single base substitution G A stop_gained R63* 187C>T PACA-AU X 54036791 54036791 single base substitution C T intron_variant PACA-AU X 54046947 54046947 single base substitution A T downstream_gene_variant PACA-AU X 54046947 54046947 single base substitution A T intron_variant PACA-AU X 54048192 54048192 single base substitution C T downstream_gene_variant PACA-AU X 54048192 54048192 single base substitution C T intron_variant PACA-AU X 54051976 54051976 single base substitution C G intron_variant PACA-AU X 54051976 54051976 single base substitution C G upstream_gene_variant PACA-AU X 54055225 54055225 single base substitution C T intron_variant PACA-AU X 54062099 54062099 single base substitution A G downstream_gene_variant PACA-AU X 54062099 54062099 single base substitution A G intron_variant PACA-AU X 54066718 54066718 single base substitution A T intron_variant PACA-AU X 54069294 54069294 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant PACA-AU X 54069294 54069294 single base substitution C A intron_variant PACA-AU X 54069294 54069294 single base substitution C A upstream_gene_variant PACA-AU X 54078122 54078122 single base substitution A G upstream_gene_variant PACA-CA X 53961123 53961123 single base substitution C T downstream_gene_variant PACA-CA X 53961327 53961327 deletion of <=200bp A - downstream_gene_variant PACA-CA X 53961470 53961470 single base substitution T C downstream_gene_variant PACA-CA X 53965640 53965640 single base substitution C T downstream_gene_variant PACA-CA X 53965640 53965640 single base substitution C T missense_variant R1009K 3026G>A PACA-CA X 53965640 53965640 single base substitution C T missense_variant R1045K 3134G>A PACA-CA X 53965640 53965640 single base substitution C T missense_variant R908K 2723G>A PACA-CA X 53965640 53965640 single base substitution C T missense_variant R912K 2735G>A PACA-CA X 53966684 53966684 single base substitution G A downstream_gene_variant PACA-CA X 53966684 53966684 single base substitution G A missense_variant P1008L 3023C>T PACA-CA X 53966684 53966684 single base substitution G A missense_variant P871L 2612C>T PACA-CA X 53966684 53966684 single base substitution G A missense_variant P875L 2624C>T PACA-CA X 53966684 53966684 single base substitution G A missense_variant P972L 2915C>T PACA-CA X 53973111 53973111 single base substitution A T intron_variant PACA-CA X 53973111 53973111 single base substitution A T upstream_gene_variant PACA-CA X 53973243 53973243 single base substitution T C intron_variant PACA-CA X 53973243 53973243 single base substitution T C upstream_gene_variant PACA-CA X 53978291 53978291 single base substitution T A intron_variant PACA-CA X 53980671 53980671 single base substitution G A intron_variant PACA-CA X 53983797 53983797 deletion of <=200bp A - intron_variant PACA-CA X 53983987 53983987 single base substitution A C intron_variant PACA-CA X 53986158 53986158 single base substitution G T intron_variant PACA-CA X 53986634 53986634 single base substitution G A intron_variant PACA-CA X 53987548 53987548 single base substitution G A intron_variant PACA-CA X 53988925 53988925 single base substitution C T intron_variant PACA-CA X 53989126 53989126 single base substitution G A intron_variant PACA-CA X 53991627 53991627 single base substitution C T intron_variant PACA-CA X 53993422 53993422 single base substitution C T intron_variant PACA-CA X 54004827 54004827 single base substitution A G intron_variant PACA-CA X 54004932 54004932 single base substitution A C intron_variant PACA-CA X 54010012 54010012 single base substitution T C downstream_gene_variant PACA-CA X 54010012 54010012 single base substitution T C intron_variant PACA-CA X 54011851 54011851 single base substitution C T downstream_gene_variant PACA-CA X 54011851 54011851 single base substitution C T intron_variant PACA-CA X 54012217 54012217 single base substitution C A downstream_gene_variant PACA-CA X 54012217 54012217 single base substitution C A intron_variant PACA-CA X 54012217 54012217 single base substitution C A missense_variant G680V 2039G>T PACA-CA X 54020308 54020308 single base substitution G A intron_variant PACA-CA X 54020308 54020308 single base substitution G A missense_variant T214M 641C>T PACA-CA X 54020308 54020308 single base substitution G A missense_variant T354M 1061C>T PACA-CA X 54020308 54020308 single base substitution G A missense_variant T451M 1352C>T PACA-CA X 54020308 54020308 single base substitution G A missense_variant T487M 1460C>T PACA-CA X 54020308 54020308 single base substitution G A upstream_gene_variant PACA-CA X 54020662 54020662 single base substitution G A intron_variant PACA-CA X 54020662 54020662 single base substitution G A upstream_gene_variant PACA-CA X 54020907 54020907 single base substitution T C intron_variant PACA-CA X 54020907 54020907 single base substitution T C upstream_gene_variant PACA-CA X 54021814 54021814 single base substitution T C downstream_gene_variant PACA-CA X 54021814 54021814 single base substitution T C intron_variant PACA-CA X 54021814 54021814 single base substitution T C upstream_gene_variant PACA-CA X 54024844 54024844 single base substitution G A downstream_gene_variant PACA-CA X 54024844 54024844 single base substitution G A intron_variant PACA-CA X 54024955 54024977 deletion of <=200bp CCCTGCCATCAATCCCACCCTGC - downstream_gene_variant PACA-CA X 54024955 54024977 deletion of <=200bp CCCTGCCATCAATCCCACCCTGC - intron_variant PACA-CA X 54024969 54024969 single base substitution C T downstream_gene_variant PACA-CA X 54024969 54024969 single base substitution C T intron_variant PACA-CA X 54025979 54025979 single base substitution A T exon_variant PACA-CA X 54025979 54025979 single base substitution A T intron_variant PACA-CA X 54028495 54028495 single base substitution T C intron_variant PACA-CA X 54030564 54030564 single base substitution C T intron_variant PACA-CA X 54030564 54030564 single base substitution C T upstream_gene_variant PACA-CA X 54036005 54036005 single base substitution C T intron_variant PACA-CA X 54037436 54037436 single base substitution C T intron_variant PACA-CA X 54040962 54040962 single base substitution G A downstream_gene_variant PACA-CA X 54040962 54040962 single base substitution G A stop_gained R114* 340C>T PACA-CA X 54040962 54040962 single base substitution G A stop_gained R211* 631C>T PACA-CA X 54040962 54040962 single base substitution G A stop_gained R247* 739C>T PACA-CA X 54040962 54040962 single base substitution G A upstream_gene_variant PACA-CA X 54041836 54041836 single base substitution C T downstream_gene_variant PACA-CA X 54041836 54041836 single base substitution C T intron_variant PACA-CA X 54041836 54041836 single base substitution C T upstream_gene_variant PACA-CA X 54042677 54042677 single base substitution A G downstream_gene_variant PACA-CA X 54042677 54042677 single base substitution A G intron_variant PACA-CA X 54042677 54042677 single base substitution A G upstream_gene_variant PACA-CA X 54043390 54043390 single base substitution C T downstream_gene_variant PACA-CA X 54043390 54043390 single base substitution C T intron_variant PACA-CA X 54043390 54043390 single base substitution C T upstream_gene_variant PACA-CA X 54044343 54044343 single base substitution T A downstream_gene_variant PACA-CA X 54044343 54044343 single base substitution T A intron_variant PACA-CA X 54044343 54044343 single base substitution T A upstream_gene_variant PACA-CA X 54044761 54044761 single base substitution A G downstream_gene_variant PACA-CA X 54044761 54044761 single base substitution A G intron_variant PACA-CA X 54044761 54044761 single base substitution A G upstream_gene_variant PACA-CA X 54048363 54048363 single base substitution G C downstream_gene_variant PACA-CA X 54048363 54048363 single base substitution G C intron_variant PACA-CA X 54050125 54050125 single base substitution C G intron_variant PACA-CA X 54050125 54050125 single base substitution C G upstream_gene_variant PACA-CA X 54052558 54052558 single base substitution G A intron_variant PACA-CA X 54052558 54052558 single base substitution G A upstream_gene_variant PACA-CA X 54053697 54053697 single base substitution G A intron_variant PACA-CA X 54056864 54056864 single base substitution C T intron_variant PACA-CA X 54057766 54057766 single base substitution A C intron_variant PACA-CA X 54060833 54060833 single base substitution C T intron_variant PACA-CA X 54062246 54062246 single base substitution G A downstream_gene_variant PACA-CA X 54062246 54062246 single base substitution G A intron_variant PACA-CA X 54069710 54069710 single base substitution A G intron_variant PACA-CA X 54069710 54069710 single base substitution A G upstream_gene_variant PACA-CA X 54069820 54069820 single base substitution G A intron_variant PACA-CA X 54069820 54069820 single base substitution G A upstream_gene_variant PACA-CA X 54070656 54070656 single base substitution G A intron_variant PACA-CA X 54070656 54070656 single base substitution G A upstream_gene_variant PACA-CA X 54070775 54070775 single base substitution T C intron_variant PACA-CA X 54070775 54070775 single base substitution T C upstream_gene_variant PACA-CA X 54078746 54078746 single base substitution T A upstream_gene_variant PACA-CA X 54080079 54080079 single base substitution G A upstream_gene_variant PAEN-AU X 54029808 54029808 single base substitution G A intron_variant PAEN-AU X 54029808 54029808 single base substitution G A upstream_gene_variant PAEN-AU X 54041762 54041762 single base substitution C T downstream_gene_variant PAEN-AU X 54041762 54041762 single base substitution C T intron_variant PAEN-AU X 54041762 54041762 single base substitution C T upstream_gene_variant PAEN-AU X 54071455 54071455 single base substitution G A 5_prime_UTR_variant PAEN-AU X 54071455 54071455 single base substitution G A intron_variant PAEN-AU X 54071455 54071455 single base substitution G A upstream_gene_variant PAEN-AU X 54073749 54073749 single base substitution C T intron_variant PAEN-AU X 54073749 54073749 single base substitution C T upstream_gene_variant PAEN-IT X 53966453 53966453 single base substitution C A downstream_gene_variant PAEN-IT X 53966453 53966453 single base substitution C A intron_variant PAEN-IT X 54018309 54018309 single base substitution T C downstream_gene_variant PAEN-IT X 54018309 54018309 single base substitution T C intron_variant PBCA-DE X 53959812 53959813 deletion of <=200bp TA - downstream_gene_variant PBCA-DE X 53961075 53961076 deletion of <=200bp AC - downstream_gene_variant PBCA-DE X 53963939 53963939 single base substitution A T 3_prime_UTR_variant PBCA-DE X 53963939 53963939 single base substitution A T downstream_gene_variant PBCA-DE X 53965456 53965456 single base substitution T A 3_prime_UTR_variant PBCA-DE X 53965456 53965456 single base substitution T A downstream_gene_variant PBCA-DE X 53965456 53965456 single base substitution T A intron_variant PBCA-DE X 53975507 53975507 deletion of <=200bp T - intron_variant PBCA-DE X 53975507 53975507 deletion of <=200bp T - upstream_gene_variant PBCA-DE X 53979505 53979505 single base substitution G A intron_variant PBCA-DE X 53982552 53982552 single base substitution G A intron_variant PBCA-DE X 53983109 53983110 deletion of <=200bp GT - intron_variant PBCA-DE X 53990007 53990007 single base substitution G T intron_variant PBCA-DE X 54006538 54006538 single base substitution C T intron_variant PBCA-DE X 54014403 54014403 single base substitution A T downstream_gene_variant PBCA-DE X 54014403 54014403 single base substitution A T intron_variant PBCA-DE X 54014466 54014466 single base substitution T A downstream_gene_variant PBCA-DE X 54014466 54014466 single base substitution T A intron_variant PBCA-DE X 54031384 54031384 single base substitution T C intron_variant PBCA-DE X 54031384 54031384 single base substitution T C upstream_gene_variant PBCA-DE X 54033830 54033830 single base substitution A C intron_variant PBCA-DE X 54033830 54033830 single base substitution A C upstream_gene_variant PBCA-DE X 54048838 54048838 single base substitution G T intron_variant PBCA-DE X 54048838 54048838 single base substitution G T upstream_gene_variant PBCA-DE X 54054418 54054419 deletion of <=200bp CA - intron_variant PBCA-DE X 54056365 54056365 single base substitution G A intron_variant PBCA-DE X 54057949 54057949 single base substitution A G intron_variant PBCA-DE X 54071101 54071101 single base substitution G A intron_variant PBCA-DE X 54071101 54071101 single base substitution G A upstream_gene_variant PBCA-DE X 54075409 54075409 deletion of <=200bp A - upstream_gene_variant PBCA-DE X 54080364 54080364 insertion of <=200bp - A upstream_gene_variant PRAD-CA X 54003024 54003024 single base substitution A G intron_variant PRAD-CA X 54046304 54046304 single base substitution C A downstream_gene_variant PRAD-CA X 54046304 54046304 single base substitution C A intron_variant PRAD-CA X 54068427 54068427 single base substitution A C intron_variant PRAD-UK X 53961093 53961093 single base substitution C T downstream_gene_variant PRAD-UK X 53963301 53963320 deletion of <=200bp TATATTTAGACATGTACAGA - 3_prime_UTR_variant PRAD-UK X 53963301 53963320 deletion of <=200bp TATATTTAGACATGTACAGA - downstream_gene_variant PRAD-UK X 53983500 53983500 single base substitution C T intron_variant PRAD-UK X 53984957 53984957 single base substitution G A intron_variant PRAD-UK X 53990152 53990152 deletion of <=200bp A - intron_variant PRAD-UK X 53996763 53996763 single base substitution T A intron_variant PRAD-UK X 54008100 54008100 single base substitution T C intron_variant PRAD-UK X 54019268 54019268 single base substitution T C 3_prime_UTR_variant PRAD-UK X 54019268 54019268 single base substitution T C exon_variant PRAD-UK X 54019268 54019268 single base substitution T C missense_variant N123S 368A>G PRAD-UK X 54019268 54019268 single base substitution T C missense_variant N307S 920A>G PRAD-UK X 54019268 54019268 single base substitution T C missense_variant N443S 1328A>G PRAD-UK X 54019268 54019268 single base substitution T C missense_variant N447S 1340A>G PRAD-UK X 54019268 54019268 single base substitution T C missense_variant N544S 1631A>G PRAD-UK X 54019268 54019268 single base substitution T C missense_variant N580S 1739A>G PRAD-UK X 54041187 54041187 single base substitution C T downstream_gene_variant PRAD-UK X 54041187 54041187 single base substitution C T intron_variant PRAD-UK X 54041187 54041187 single base substitution C T upstream_gene_variant PRAD-UK X 54062006 54062006 single base substitution G T downstream_gene_variant PRAD-UK X 54062006 54062006 single base substitution G T intron_variant PRAD-UK X 54069711 54069711 single base substitution G A intron_variant PRAD-UK X 54069711 54069711 single base substitution G A upstream_gene_variant PRAD-UK X 54072895 54072895 single base substitution A C intron_variant PRAD-UK X 54072895 54072895 single base substitution A C upstream_gene_variant PRAD-US X 54011405 54011407 deletion of <=200bp CTC - downstream_gene_variant PRAD-US X 54011405 54011407 deletion of <=200bp CTC - inframe_deletion E558 PRAD-US X 54011405 54011407 deletion of <=200bp CTC - inframe_deletion E694 PRAD-US X 54011405 54011407 deletion of <=200bp CTC - inframe_deletion E698 PRAD-US X 54011405 54011407 deletion of <=200bp CTC - inframe_deletion E778 PRAD-US X 54011405 54011407 deletion of <=200bp CTC - inframe_deletion E795 PRAD-US X 54011405 54011407 deletion of <=200bp CTC - inframe_deletion E831 PRAD-US X 54029074 54029074 single base substitution A C exon_variant PRAD-US X 54029074 54029074 single base substitution A C missense_variant F10V 28T>G PRAD-US X 54029074 54029074 single base substitution A C missense_variant F233V 697T>G PRAD-US X 54029074 54029074 single base substitution A C missense_variant F330V 988T>G PRAD-US X 54029074 54029074 single base substitution A C missense_variant F366V 1096T>G PRAD-US X 54029074 54029074 single base substitution A C missense_variant F93V 277T>G RECA-EU X 53964733 53964733 single base substitution C T 3_prime_UTR_variant RECA-EU X 53964733 53964733 single base substitution C T downstream_gene_variant RECA-EU X 53964733 53964733 single base substitution C T intron_variant RECA-EU X 53966341 53966341 single base substitution T A downstream_gene_variant RECA-EU X 53966341 53966341 single base substitution T A intron_variant RECA-EU X 53968538 53968538 single base substitution T A downstream_gene_variant RECA-EU X 53968538 53968538 single base substitution T A intron_variant RECA-EU X 53970755 53970755 single base substitution C A exon_variant RECA-EU X 53970755 53970755 single base substitution C A intron_variant RECA-EU X 53973037 53973037 single base substitution A G intron_variant RECA-EU X 53973037 53973037 single base substitution A G upstream_gene_variant RECA-EU X 53986426 53986426 single base substitution G A intron_variant RECA-EU X 54000876 54000876 single base substitution C A intron_variant RECA-EU X 54014413 54014413 single base substitution A T downstream_gene_variant RECA-EU X 54014413 54014413 single base substitution A T intron_variant RECA-EU X 54021331 54021331 single base substitution A G downstream_gene_variant RECA-EU X 54021331 54021331 single base substitution A G intron_variant RECA-EU X 54021331 54021331 single base substitution A G upstream_gene_variant RECA-EU X 54026679 54026679 single base substitution C A intron_variant RECA-EU X 54040933 54040933 single base substitution C T downstream_gene_variant RECA-EU X 54040933 54040933 single base substitution C T stop_gained W123* 369G>A RECA-EU X 54040933 54040933 single base substitution C T stop_gained W220* 660G>A RECA-EU X 54040933 54040933 single base substitution C T stop_gained W256* 768G>A RECA-EU X 54040933 54040933 single base substitution C T upstream_gene_variant RECA-EU X 54049271 54049271 single base substitution A T missense_variant V35D 104T>A RECA-EU X 54049271 54049271 single base substitution A T missense_variant V71D 212T>A RECA-EU X 54049271 54049271 single base substitution A T upstream_gene_variant RECA-EU X 54061184 54061184 single base substitution G A downstream_gene_variant RECA-EU X 54061184 54061184 single base substitution G A intron_variant RECA-EU X 54064984 54064984 single base substitution C T downstream_gene_variant RECA-EU X 54064984 54064984 single base substitution C T intron_variant SKCA-BR X 53961891 53961891 single base substitution C T downstream_gene_variant SKCA-BR X 53970407 53970407 single base substitution G A intron_variant SKCA-BR X 53971596 53971596 single base substitution G A intron_variant SKCA-BR X 53971596 53971596 single base substitution G A upstream_gene_variant SKCA-BR X 53972715 53972715 single base substitution G A intron_variant SKCA-BR X 53972715 53972715 single base substitution G A upstream_gene_variant SKCA-BR X 53973181 53973181 single base substitution G A intron_variant SKCA-BR X 53973181 53973181 single base substitution G A upstream_gene_variant SKCA-BR X 53973301 53973301 single base substitution G A intron_variant SKCA-BR X 53973301 53973301 single base substitution G A upstream_gene_variant SKCA-BR X 53974895 53974895 single base substitution G A intron_variant SKCA-BR X 53974895 53974895 single base substitution G A upstream_gene_variant SKCA-BR X 53978716 53978716 insertion of <=200bp - CA intron_variant SKCA-BR X 53979998 53979998 single base substitution A G intron_variant SKCA-BR X 53982516 53982516 single base substitution C T intron_variant SKCA-BR X 53985480 53985480 single base substitution G A intron_variant SKCA-BR X 53986460 53986460 single base substitution G A intron_variant SKCA-BR X 53990953 53990953 single base substitution T A intron_variant SKCA-BR X 53993417 53993417 single base substitution C T intron_variant SKCA-BR X 53994972 53994972 single base substitution G A intron_variant SKCA-BR X 53996045 53996045 single base substitution G A intron_variant SKCA-BR X 53998778 53998778 single base substitution G A intron_variant SKCA-BR X 53999524 53999524 single base substitution G A intron_variant SKCA-BR X 53999525 53999525 single base substitution G A intron_variant SKCA-BR X 54001411 54001411 single base substitution G A intron_variant SKCA-BR X 54001529 54001529 single base substitution G A intron_variant SKCA-BR X 54007420 54007420 single base substitution T G intron_variant SKCA-BR X 54008053 54008053 single base substitution G A intron_variant SKCA-BR X 54012604 54012604 single base substitution G A downstream_gene_variant SKCA-BR X 54012604 54012604 single base substitution G A intron_variant SKCA-BR X 54019162 54019162 single base substitution A C downstream_gene_variant SKCA-BR X 54019162 54019162 single base substitution A C intron_variant SKCA-BR X 54019162 54019162 single base substitution A C splice_region_variant SKCA-BR X 54019484 54019484 single base substitution A G intron_variant SKCA-BR X 54019484 54019484 single base substitution A G upstream_gene_variant SKCA-BR X 54020165 54020165 single base substitution C T intron_variant SKCA-BR X 54020165 54020165 single base substitution C T missense_variant E262K 784G>A SKCA-BR X 54020165 54020165 single base substitution C T missense_variant E402K 1204G>A SKCA-BR X 54020165 54020165 single base substitution C T missense_variant E499K 1495G>A SKCA-BR X 54020165 54020165 single base substitution C T missense_variant E535K 1603G>A SKCA-BR X 54020165 54020165 single base substitution C T upstream_gene_variant SKCA-BR X 54021602 54021602 single base substitution G A downstream_gene_variant SKCA-BR X 54021602 54021602 single base substitution G A exon_variant SKCA-BR X 54021602 54021602 single base substitution G A intron_variant SKCA-BR X 54021602 54021602 single base substitution G A upstream_gene_variant SKCA-BR X 54026354 54026354 single base substitution G A exon_variant SKCA-BR X 54026354 54026354 single base substitution G A synonymous_variant V157V 471C>T SKCA-BR X 54026354 54026354 single base substitution G A synonymous_variant V297V 891C>T SKCA-BR X 54026354 54026354 single base substitution G A synonymous_variant V394V 1182C>T SKCA-BR X 54026354 54026354 single base substitution G A synonymous_variant V430V 1290C>T SKCA-BR X 54026354 54026354 single base substitution G A synonymous_variant V74V 222C>T SKCA-BR X 54026724 54026724 single base substitution G C intron_variant SKCA-BR X 54027465 54027465 single base substitution G A intron_variant SKCA-BR X 54027610 54027610 single base substitution T A intron_variant SKCA-BR X 54028380 54028380 single base substitution G A intron_variant SKCA-BR X 54028679 54028679 single base substitution C T exon_variant SKCA-BR X 54028679 54028679 single base substitution C T synonymous_variant E113E 339G>A SKCA-BR X 54028679 54028679 single base substitution C T synonymous_variant E253E 759G>A SKCA-BR X 54028679 54028679 single base substitution C T synonymous_variant E30E 90G>A SKCA-BR X 54028679 54028679 single base substitution C T synonymous_variant E350E 1050G>A SKCA-BR X 54028679 54028679 single base substitution C T synonymous_variant E386E 1158G>A SKCA-BR X 54030004 54030004 single base substitution C T intron_variant SKCA-BR X 54030004 54030004 single base substitution C T upstream_gene_variant SKCA-BR X 54034946 54034946 single base substitution A G intron_variant SKCA-BR X 54035495 54035495 single base substitution C T intron_variant SKCA-BR X 54035884 54035884 single base substitution G A intron_variant SKCA-BR X 54038315 54038315 single base substitution G A intron_variant SKCA-BR X 54038315 54038315 single base substitution G A upstream_gene_variant SKCA-BR X 54038435 54038435 single base substitution G A intron_variant SKCA-BR X 54038435 54038435 single base substitution G A upstream_gene_variant SKCA-BR X 54038912 54038912 single base substitution C T intron_variant SKCA-BR X 54038912 54038912 single base substitution C T upstream_gene_variant SKCA-BR X 54043810 54043810 single base substitution G C downstream_gene_variant SKCA-BR X 54043810 54043810 single base substitution G C intron_variant SKCA-BR X 54043810 54043810 single base substitution G C upstream_gene_variant SKCA-BR X 54047110 54047110 single base substitution G A downstream_gene_variant SKCA-BR X 54047110 54047110 single base substitution G A intron_variant SKCA-BR X 54048664 54048664 single base substitution A C downstream_gene_variant SKCA-BR X 54048664 54048664 single base substitution A C intron_variant SKCA-BR X 54050772 54050772 single base substitution G A intron_variant SKCA-BR X 54050772 54050772 single base substitution G A upstream_gene_variant SKCA-BR X 54051283 54051283 single base substitution G C intron_variant SKCA-BR X 54051283 54051283 single base substitution G C upstream_gene_variant SKCA-BR X 54055135 54055135 single base substitution C A intron_variant SKCA-BR X 54059467 54059467 single base substitution T C intron_variant SKCA-BR X 54064048 54064048 single base substitution G A downstream_gene_variant SKCA-BR X 54064048 54064048 single base substitution G A intron_variant SKCA-BR X 54065566 54065567 deletion of <=200bp CA - downstream_gene_variant SKCA-BR X 54065566 54065567 deletion of <=200bp CA - intron_variant SKCA-BR X 54070738 54070738 single base substitution T G intron_variant SKCA-BR X 54070738 54070738 single base substitution T G upstream_gene_variant SKCA-BR X 54073015 54073015 insertion of <=200bp - CA intron_variant SKCA-BR X 54073015 54073015 insertion of <=200bp - CA upstream_gene_variant SKCA-BR X 54074934 54074934 single base substitution G A intron_variant SKCA-BR X 54074934 54074934 single base substitution G A upstream_gene_variant SKCA-BR X 54076358 54076358 single base substitution A G upstream_gene_variant SKCA-BR X 54079135 54079135 single base substitution G A upstream_gene_variant SKCM-US X 53965627 53965627 single base substitution G A downstream_gene_variant SKCM-US X 53965627 53965627 single base substitution G A synonymous_variant I1013I 3039C>T SKCM-US X 53965627 53965627 single base substitution G A synonymous_variant I1049I 3147C>T SKCM-US X 53965627 53965627 single base substitution G A synonymous_variant I912I 2736C>T SKCM-US X 53965627 53965627 single base substitution G A synonymous_variant I916I 2748C>T SKCM-US X 53966798 53966798 single base substitution G A downstream_gene_variant SKCM-US X 53966798 53966798 single base substitution G A missense_variant P833L 2498C>T SKCM-US X 53966798 53966798 single base substitution G A missense_variant P837L 2510C>T SKCM-US X 53966798 53966798 single base substitution G A missense_variant P934L 2801C>T SKCM-US X 53966798 53966798 single base substitution G A missense_variant P970L 2909C>T SKCM-US X 54011532 54011532 single base substitution C T downstream_gene_variant SKCM-US X 54011532 54011532 single base substitution C T missense_variant R516Q 1547G>A SKCM-US X 54011532 54011532 single base substitution C T missense_variant R652Q 1955G>A SKCM-US X 54011532 54011532 single base substitution C T missense_variant R656Q 1967G>A SKCM-US X 54011532 54011532 single base substitution C T missense_variant R736Q 2207G>A SKCM-US X 54011532 54011532 single base substitution C T missense_variant R753Q 2258G>A SKCM-US X 54011532 54011532 single base substitution C T missense_variant R789Q 2366G>A SKCM-US X 54011586 54011586 single base substitution G A downstream_gene_variant SKCM-US X 54011586 54011586 single base substitution G A missense_variant S498L 1493C>T SKCM-US X 54011586 54011586 single base substitution G A missense_variant S634L 1901C>T SKCM-US X 54011586 54011586 single base substitution G A missense_variant S638L 1913C>T SKCM-US X 54011586 54011586 single base substitution G A missense_variant S718L 2153C>T SKCM-US X 54011586 54011586 single base substitution G A missense_variant S735L 2204C>T SKCM-US X 54011586 54011586 single base substitution G A missense_variant S771L 2312C>T SKCM-US X 54014280 54014280 single base substitution C T downstream_gene_variant SKCM-US X 54014280 54014280 single base substitution C T exon_variant SKCM-US X 54014280 54014280 single base substitution C T missense_variant E373K 1117G>A SKCM-US X 54014280 54014280 single base substitution C T missense_variant E509K 1525G>A SKCM-US X 54014280 54014280 single base substitution C T missense_variant E513K 1537G>A SKCM-US X 54014280 54014280 single base substitution C T missense_variant E610K 1828G>A SKCM-US X 54014280 54014280 single base substitution C T missense_variant E646K 1936G>A SKCM-US X 54014369 54014369 single base substitution C G downstream_gene_variant SKCM-US X 54014369 54014369 single base substitution C G exon_variant SKCM-US X 54014369 54014369 single base substitution C G missense_variant R343T 1028G>C SKCM-US X 54014369 54014369 single base substitution C G missense_variant R479T 1436G>C SKCM-US X 54014369 54014369 single base substitution C G missense_variant R483T 1448G>C SKCM-US X 54014369 54014369 single base substitution C G missense_variant R580T 1739G>C SKCM-US X 54014369 54014369 single base substitution C G missense_variant R616T 1847G>C SKCM-US X 54020143 54020143 single base substitution C T intron_variant SKCM-US X 54020143 54020143 single base substitution C T missense_variant R269Q 806G>A SKCM-US X 54020143 54020143 single base substitution C T missense_variant R409Q 1226G>A SKCM-US X 54020143 54020143 single base substitution C T missense_variant R506Q 1517G>A SKCM-US X 54020143 54020143 single base substitution C T missense_variant R542Q 1625G>A SKCM-US X 54020143 54020143 single base substitution C T upstream_gene_variant SKCM-US X 54020145 54020145 single base substitution C T intron_variant SKCM-US X 54020145 54020145 single base substitution C T synonymous_variant E268E 804G>A SKCM-US X 54020145 54020145 single base substitution C T synonymous_variant E408E 1224G>A SKCM-US X 54020145 54020145 single base substitution C T synonymous_variant E505E 1515G>A SKCM-US X 54020145 54020145 single base substitution C T synonymous_variant E541E 1623G>A SKCM-US X 54020145 54020145 single base substitution C T upstream_gene_variant SKCM-US X 54022212 54022212 single base substitution G A downstream_gene_variant SKCM-US X 54022212 54022212 single base substitution G A exon_variant SKCM-US X 54022212 54022212 single base substitution G A synonymous_variant L176L 526C>T SKCM-US X 54022212 54022212 single base substitution G A synonymous_variant L316L 946C>T SKCM-US X 54022212 54022212 single base substitution G A synonymous_variant L413L 1237C>T SKCM-US X 54022212 54022212 single base substitution G A synonymous_variant L449L 1345C>T SKCM-US X 54022212 54022212 single base substitution G A synonymous_variant L93L 277C>T SKCM-US X 54022212 54022212 single base substitution G A upstream_gene_variant SKCM-US X 54037565 54037565 single base substitution G A exon_variant SKCM-US X 54037565 54037565 single base substitution G A synonymous_variant F215F 645C>T SKCM-US X 54037565 54037565 single base substitution G A synonymous_variant F312F 936C>T SKCM-US X 54037565 54037565 single base substitution G A synonymous_variant F348F 1044C>T SKCM-US X 54037565 54037565 single base substitution G A synonymous_variant F75F 225C>T SKCM-US X 54037695 54037695 single base substitution A G exon_variant SKCM-US X 54037695 54037695 single base substitution A G missense_variant I172T 515T>C SKCM-US X 54037695 54037695 single base substitution A G missense_variant I269T 806T>C SKCM-US X 54037695 54037695 single base substitution A G missense_variant I305T 914T>C SKCM-US X 54037695 54037695 single base substitution A G missense_variant I32T 95T>C SKCM-US X 54037695 54037695 single base substitution A G upstream_gene_variant SKCM-US X 54044242 54044242 single base substitution C T downstream_gene_variant SKCM-US X 54044242 54044242 single base substitution C T synonymous_variant V102V 306G>A SKCM-US X 54044242 54044242 single base substitution C T synonymous_variant V138V 414G>A SKCM-US X 54044242 54044242 single base substitution C T synonymous_variant V5V 15G>A SKCM-US X 54044242 54044242 single base substitution C T upstream_gene_variant SKCM-US X 54048696 54048696 single base substitution C A missense_variant D133Y 397G>T SKCM-US X 54048696 54048696 single base substitution C A missense_variant D97Y 289G>T SKCM-US X 54048696 54048696 single base substitution C A upstream_gene_variant SKCM-US X 54048724 54048724 single base substitution G A synonymous_variant F123F 369C>T SKCM-US X 54048724 54048724 single base substitution G A synonymous_variant F87F 261C>T SKCM-US X 54048724 54048724 single base substitution G A upstream_gene_variant STAD-US X 53966872 53966872 single base substitution T A downstream_gene_variant STAD-US X 53966872 53966872 single base substitution T A exon_variant STAD-US X 53966872 53966872 single base substitution T A missense_variant Q808H 2424A>T STAD-US X 53966872 53966872 single base substitution T A missense_variant Q812H 2436A>T STAD-US X 53966872 53966872 single base substitution T A missense_variant Q909H 2727A>T STAD-US X 53966872 53966872 single base substitution T A missense_variant Q945H 2835A>T STAD-US X 54011391 54011391 single base substitution T C downstream_gene_variant STAD-US X 54011391 54011391 single base substitution T C missense_variant D563G 1688A>G STAD-US X 54011391 54011391 single base substitution T C missense_variant D699G 2096A>G STAD-US X 54011391 54011391 single base substitution T C missense_variant D703G 2108A>G STAD-US X 54011391 54011391 single base substitution T C missense_variant D783G 2348A>G STAD-US X 54011391 54011391 single base substitution T C missense_variant D800G 2399A>G STAD-US X 54011391 54011391 single base substitution T C missense_variant D836G 2507A>G STAD-US X 54011506 54011506 single base substitution G A downstream_gene_variant STAD-US X 54011506 54011506 single base substitution G A synonymous_variant L525L 1573C>T STAD-US X 54011506 54011506 single base substitution G A synonymous_variant L661L 1981C>T STAD-US X 54011506 54011506 single base substitution G A synonymous_variant L665L 1993C>T STAD-US X 54011506 54011506 single base substitution G A synonymous_variant L745L 2233C>T STAD-US X 54011506 54011506 single base substitution G A synonymous_variant L762L 2284C>T STAD-US X 54011506 54011506 single base substitution G A synonymous_variant L798L 2392C>T STAD-US X 54014219 54014219 single base substitution G A downstream_gene_variant STAD-US X 54014219 54014219 single base substitution G A missense_variant A393V 1178C>T STAD-US X 54014219 54014219 single base substitution G A missense_variant A529V 1586C>T STAD-US X 54014219 54014219 single base substitution G A missense_variant A533V 1598C>T STAD-US X 54014219 54014219 single base substitution G A missense_variant A630V 1889C>T STAD-US X 54014219 54014219 single base substitution G A missense_variant A666V 1997C>T STAD-US X 54014280 54014280 single base substitution C T downstream_gene_variant STAD-US X 54014280 54014280 single base substitution C T exon_variant STAD-US X 54014280 54014280 single base substitution C T missense_variant E373K 1117G>A STAD-US X 54014280 54014280 single base substitution C T missense_variant E509K 1525G>A STAD-US X 54014280 54014280 single base substitution C T missense_variant E513K 1537G>A STAD-US X 54014280 54014280 single base substitution C T missense_variant E610K 1828G>A STAD-US X 54014280 54014280 single base substitution C T missense_variant E646K 1936G>A STAD-US X 54014281 54014281 single base substitution G A downstream_gene_variant STAD-US X 54014281 54014281 single base substitution G A exon_variant STAD-US X 54014281 54014281 single base substitution G A synonymous_variant D372D 1116C>T STAD-US X 54014281 54014281 single base substitution G A synonymous_variant D508D 1524C>T STAD-US X 54014281 54014281 single base substitution G A synonymous_variant D512D 1536C>T STAD-US X 54014281 54014281 single base substitution G A synonymous_variant D609D 1827C>T STAD-US X 54014281 54014281 single base substitution G A synonymous_variant D645D 1935C>T STAD-US X 54019239 54019239 single base substitution C T 3_prime_UTR_variant STAD-US X 54019239 54019239 single base substitution C T exon_variant STAD-US X 54019239 54019239 single base substitution C T missense_variant D133N 397G>A STAD-US X 54019239 54019239 single base substitution C T missense_variant D317N 949G>A STAD-US X 54019239 54019239 single base substitution C T missense_variant D453N 1357G>A STAD-US X 54019239 54019239 single base substitution C T missense_variant D457N 1369G>A STAD-US X 54019239 54019239 single base substitution C T missense_variant D554N 1660G>A STAD-US X 54019239 54019239 single base substitution C T missense_variant D590N 1768G>A STAD-US X 54020053 54020053 single base substitution C G intron_variant STAD-US X 54020053 54020053 single base substitution C G missense_variant G299A 896G>C STAD-US X 54020053 54020053 single base substitution C G missense_variant G439A 1316G>C STAD-US X 54020053 54020053 single base substitution C G missense_variant G536A 1607G>C STAD-US X 54020053 54020053 single base substitution C G missense_variant G572A 1715G>C STAD-US X 54020053 54020053 single base substitution C G upstream_gene_variant STAD-US X 54022124 54022124 single base substitution A G downstream_gene_variant STAD-US X 54022124 54022124 single base substitution A G splice_donor_variant STAD-US X 54022124 54022124 single base substitution A G upstream_gene_variant STAD-US X 54026320 54026320 single base substitution C A exon_variant STAD-US X 54026320 54026320 single base substitution C A missense_variant A169S 505G>T STAD-US X 54026320 54026320 single base substitution C A missense_variant A309S 925G>T STAD-US X 54026320 54026320 single base substitution C A missense_variant A406S 1216G>T STAD-US X 54026320 54026320 single base substitution C A missense_variant A442S 1324G>T STAD-US X 54026320 54026320 single base substitution C A missense_variant A86S 256G>T STAD-US X 54028591 54028591 single base substitution G A exon_variant STAD-US X 54028591 54028591 single base substitution G A missense_variant R143C 427C>T STAD-US X 54028591 54028591 single base substitution G A missense_variant R283C 847C>T STAD-US X 54028591 54028591 single base substitution G A missense_variant R380C 1138C>T STAD-US X 54028591 54028591 single base substitution G A missense_variant R416C 1246C>T STAD-US X 54028591 54028591 single base substitution G A missense_variant R60C 178C>T STAD-US X 54037563 54037563 single base substitution A G exon_variant STAD-US X 54037563 54037563 single base substitution A G missense_variant I216T 647T>C STAD-US X 54037563 54037563 single base substitution A G missense_variant I313T 938T>C STAD-US X 54037563 54037563 single base substitution A G missense_variant I349T 1046T>C STAD-US X 54037563 54037563 single base substitution A G missense_variant I76T 227T>C STAD-US X 54037577 54037577 single base substitution T C exon_variant STAD-US X 54037577 54037577 single base substitution T C synonymous_variant G211G 633A>G STAD-US X 54037577 54037577 single base substitution T C synonymous_variant G308G 924A>G STAD-US X 54037577 54037577 single base substitution T C synonymous_variant G344G 1032A>G STAD-US X 54037577 54037577 single base substitution T C synonymous_variant G71G 213A>G STAD-US X 54043133 54043133 single base substitution C T downstream_gene_variant STAD-US X 54043133 54043133 single base substitution C T missense_variant R164H 491G>A STAD-US X 54043133 54043133 single base substitution C T missense_variant R200H 599G>A STAD-US X 54043133 54043133 single base substitution C T missense_variant R67H 200G>A STAD-US X 54043133 54043133 single base substitution C T upstream_gene_variant STAD-US X 54044103 54044103 single base substitution G A downstream_gene_variant STAD-US X 54044103 54044103 single base substitution G A missense_variant H149Y 445C>T STAD-US X 54044103 54044103 single base substitution G A missense_variant H185Y 553C>T STAD-US X 54044103 54044103 single base substitution G A missense_variant H52Y 154C>T STAD-US X 54044103 54044103 single base substitution G A upstream_gene_variant STAD-US X 54048751 54048751 deletion of <=200bp T - frameshift_variant K114 STAD-US X 54048751 54048751 deletion of <=200bp T - frameshift_variant K78 STAD-US X 54048751 54048751 deletion of <=200bp T - upstream_gene_variant STAD-US X 54069132 54069132 single base substitution G A exon_variant STAD-US X 54069132 54069132 single base substitution G A synonymous_variant C10C 30C>T STAD-US X 54069132 54069132 single base substitution G A synonymous_variant C46C 138C>T THCA-US X 54048691 54048691 single base substitution C A downstream_gene_variant THCA-US X 54048691 54048691 single base substitution C A splice_donor_variant UCEC-US X 53965596 53965596 single base substitution G T downstream_gene_variant UCEC-US X 53965596 53965596 single base substitution G T missense_variant L1024M 3070C>A UCEC-US X 53965596 53965596 single base substitution G T missense_variant L1060M 3178C>A UCEC-US X 53965596 53965596 single base substitution G T missense_variant L923I 2767C>A UCEC-US X 53965596 53965596 single base substitution G T missense_variant L927I 2779C>A UCEC-US X 53965674 53965674 single base substitution G A downstream_gene_variant UCEC-US X 53965674 53965674 single base substitution G A missense_variant R1034C 3100C>T UCEC-US X 53965674 53965674 single base substitution G A missense_variant R897C 2689C>T UCEC-US X 53965674 53965674 single base substitution G A missense_variant R901C 2701C>T UCEC-US X 53965674 53965674 single base substitution G A missense_variant R998C 2992C>T UCEC-US X 53966754 53966754 single base substitution G T downstream_gene_variant UCEC-US X 53966754 53966754 single base substitution G T missense_variant L848I 2542C>A UCEC-US X 53966754 53966754 single base substitution G T missense_variant L852I 2554C>A UCEC-US X 53966754 53966754 single base substitution G T missense_variant L949I 2845C>A UCEC-US X 53966754 53966754 single base substitution G T missense_variant L985I 2953C>A UCEC-US X 53966899 53966899 single base substitution C T downstream_gene_variant UCEC-US X 53966899 53966899 single base substitution C T exon_variant UCEC-US X 53966899 53966899 single base substitution C T synonymous_variant L799L 2397G>A UCEC-US X 53966899 53966899 single base substitution C T synonymous_variant L803L 2409G>A UCEC-US X 53966899 53966899 single base substitution C T synonymous_variant L900L 2700G>A UCEC-US X 53966899 53966899 single base substitution C T synonymous_variant L936L 2808G>A UCEC-US X 53970623 53970623 single base substitution G A exon_variant UCEC-US X 53970623 53970623 single base substitution G A missense_variant R628W 1882C>T UCEC-US X 53970623 53970623 single base substitution G A missense_variant R764W 2290C>T UCEC-US X 53970623 53970623 single base substitution G A missense_variant R768W 2302C>T UCEC-US X 53970623 53970623 single base substitution G A missense_variant R848W 2542C>T UCEC-US X 53970623 53970623 single base substitution G A missense_variant R865W 2593C>T UCEC-US X 53970623 53970623 single base substitution G A missense_variant R901W 2701C>T UCEC-US X 54011425 54011425 single base substitution C T downstream_gene_variant UCEC-US X 54011425 54011425 single base substitution C T missense_variant E552K 1654G>A UCEC-US X 54011425 54011425 single base substitution C T missense_variant E688K 2062G>A UCEC-US X 54011425 54011425 single base substitution C T missense_variant E692K 2074G>A UCEC-US X 54011425 54011425 single base substitution C T missense_variant E772K 2314G>A UCEC-US X 54011425 54011425 single base substitution C T missense_variant E789K 2365G>A UCEC-US X 54011425 54011425 single base substitution C T missense_variant E825K 2473G>A UCEC-US X 54012214 54012214 single base substitution T C downstream_gene_variant UCEC-US X 54012214 54012214 single base substitution T C intron_variant UCEC-US X 54012214 54012214 single base substitution T C missense_variant Y681C 2042A>G UCEC-US X 54012295 54012295 single base substitution G A downstream_gene_variant UCEC-US X 54012295 54012295 single base substitution G A intron_variant UCEC-US X 54012295 54012295 single base substitution G A missense_variant L458F 1372C>T UCEC-US X 54012295 54012295 single base substitution G A missense_variant L594F 1780C>T UCEC-US X 54012295 54012295 single base substitution G A missense_variant L598F 1792C>T UCEC-US X 54012295 54012295 single base substitution G A missense_variant L695F 2083C>T UCEC-US X 54012295 54012295 single base substitution G A missense_variant L731F 2191C>T UCEC-US X 54012332 54012332 single base substitution A G downstream_gene_variant UCEC-US X 54012332 54012332 single base substitution A G splice_region_variant UCEC-US X 54012332 54012332 single base substitution A G synonymous_variant L445L 1335T>C UCEC-US X 54012332 54012332 single base substitution A G synonymous_variant L581L 1743T>C UCEC-US X 54012332 54012332 single base substitution A G synonymous_variant L585L 1755T>C UCEC-US X 54012332 54012332 single base substitution A G synonymous_variant L682L 2046T>C UCEC-US X 54012332 54012332 single base substitution A G synonymous_variant L718L 2154T>C UCEC-US X 54014211 54014211 single base substitution T C downstream_gene_variant UCEC-US X 54014211 54014211 single base substitution T C missense_variant I396V 1186A>G UCEC-US X 54014211 54014211 single base substitution T C missense_variant I532V 1594A>G UCEC-US X 54014211 54014211 single base substitution T C missense_variant I536V 1606A>G UCEC-US X 54014211 54014211 single base substitution T C missense_variant I633V 1897A>G UCEC-US X 54014211 54014211 single base substitution T C missense_variant I669V 2005A>G UCEC-US X 54019239 54019239 single base substitution C A 3_prime_UTR_variant UCEC-US X 54019239 54019239 single base substitution C A exon_variant UCEC-US X 54019239 54019239 single base substitution C A missense_variant D133Y 397G>T UCEC-US X 54019239 54019239 single base substitution C A missense_variant D317Y 949G>T UCEC-US X 54019239 54019239 single base substitution C A missense_variant D453Y 1357G>T UCEC-US X 54019239 54019239 single base substitution C A missense_variant D457Y 1369G>T UCEC-US X 54019239 54019239 single base substitution C A missense_variant D554Y 1660G>T UCEC-US X 54019239 54019239 single base substitution C A missense_variant D590Y 1768G>T UCEC-US X 54022170 54022170 single base substitution C T downstream_gene_variant UCEC-US X 54022170 54022170 single base substitution C T exon_variant UCEC-US X 54022170 54022170 single base substitution C T missense_variant V107I 319G>A UCEC-US X 54022170 54022170 single base substitution C T missense_variant V190I 568G>A UCEC-US X 54022170 54022170 single base substitution C T missense_variant V330I 988G>A UCEC-US X 54022170 54022170 single base substitution C T missense_variant V427I 1279G>A UCEC-US X 54022170 54022170 single base substitution C T missense_variant V463I 1387G>A UCEC-US X 54022170 54022170 single base substitution C T upstream_gene_variant UCEC-US X 54028588 54028588 single base substitution C G missense_variant G144R 430G>C UCEC-US X 54028588 54028588 single base substitution C G missense_variant G284R 850G>C UCEC-US X 54028588 54028588 single base substitution C G missense_variant G381R 1141G>C UCEC-US X 54028588 54028588 single base substitution C G missense_variant G417R 1249G>C UCEC-US X 54028588 54028588 single base substitution C G missense_variant G61R 181G>C UCEC-US X 54028588 54028588 single base substitution C G splice_region_variant UCEC-US X 54028589 54028589 single base substitution G A splice_region_variant UCEC-US X 54029033 54029033 single base substitution C A exon_variant UCEC-US X 54029033 54029033 single base substitution C A missense_variant Q106H 318G>T UCEC-US X 54029033 54029033 single base substitution C A missense_variant Q23H 69G>T UCEC-US X 54029033 54029033 single base substitution C A missense_variant Q246H 738G>T UCEC-US X 54029033 54029033 single base substitution C A missense_variant Q343H 1029G>T UCEC-US X 54029033 54029033 single base substitution C A missense_variant Q379H 1137G>T UCEC-US X 54037560 54037560 single base substitution G T exon_variant UCEC-US X 54037560 54037560 single base substitution G T missense_variant P217H 650C>A UCEC-US X 54037560 54037560 single base substitution G T missense_variant P314H 941C>A UCEC-US X 54037560 54037560 single base substitution G T missense_variant P350H 1049C>A UCEC-US X 54037560 54037560 single base substitution G T missense_variant P77H 230C>A UCEC-US X 54037692 54037692 single base substitution C T exon_variant UCEC-US X 54037692 54037692 single base substitution C T missense_variant R173H 518G>A UCEC-US X 54037692 54037692 single base substitution C T missense_variant R270H 809G>A UCEC-US X 54037692 54037692 single base substitution C T missense_variant R306H 917G>A UCEC-US X 54037692 54037692 single base substitution C T missense_variant R33H 98G>A UCEC-US X 54037692 54037692 single base substitution C T upstream_gene_variant UCEC-US X 54043099 54043099 single base substitution A G downstream_gene_variant UCEC-US X 54043099 54043099 single base substitution A G synonymous_variant F175F 525T>C UCEC-US X 54043099 54043099 single base substitution A G synonymous_variant F211F 633T>C UCEC-US X 54043099 54043099 single base substitution A G synonymous_variant F78F 234T>C UCEC-US X 54043099 54043099 single base substitution A G upstream_gene_variant UCEC-US X 54044120 54044120 single base substitution G A downstream_gene_variant UCEC-US X 54044120 54044120 single base substitution G A missense_variant T143I 428C>T UCEC-US X 54044120 54044120 single base substitution G A missense_variant T179I 536C>T UCEC-US X 54044120 54044120 single base substitution G A missense_variant T46I 137C>T UCEC-US X 54044120 54044120 single base substitution G A upstream_gene_variant UCEC-US X 54044223 54044223 single base substitution T G downstream_gene_variant UCEC-US X 54044223 54044223 single base substitution T G missense_variant N109H 325A>C UCEC-US X 54044223 54044223 single base substitution T G missense_variant N12H 34A>C UCEC-US X 54044223 54044223 single base substitution T G missense_variant N145H 433A>C UCEC-US X 54044223 54044223 single base substitution T G upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ASHPC_0019_Pa_P COSM4806556 c.3023C>T p.P1008L Substitution - Missense 23:53940251-53940251 - TCGA-CG-5721-01 COSM4110231 c.1431+2T>C p.? Unknown 23:53995691-53995691 - TCGA-AN-A046-01 COSM3845077 c.2728G>A p.D910N Substitution - Missense 23:53940438-53940438 - pfg008T COSM1724608 c.2491_2493delGAG p.E831delE Deletion - In frame 23:53984972-53984974 - TCGA-AA-3821-01 COSM294700 c.620C>T p.P207L Substitution - Missense 23:54014540-54014540 - CHC892T COSM4794046 c.2247G>A p.G749G Substitution - coding silent 23:53985110-53985110 - TCGA-BR-6452-01 COSM4110247 c.1032A>G p.G344G Substitution - coding silent 23:54011144-54011144 - 46M COSM5588625 c.2977C>T p.R993C Substitution - Missense 23:53940297-53940297 - 19M COSM5579311 c.2823G>A p.Q941Q Substitution - coding silent 23:53940451-53940451 - TCGA-B5-A0JN-01 COSM1123279 c.489C>A p.T163T Substitution - coding silent 23:54016702-54016702 - TCGA-AC-A23H-01 COSM3845090 c.466G>C p.E156Q Substitution - Missense 23:54016725-54016725 - 587398 COSM1220386 c.2318G>A p.R773H Substitution - Missense 23:53985039-53985039 - YURAY COSM5412867 c.1176C>T p.Y392Y Substitution - coding silent 23:53999927-53999927 - TCGA-Q1-A6DT-01 COSM4850815 c.667G>A p.E223K Substitution - Missense 23:54014493-54014493 - C0075T COSM4154983 c.660G>A p.W220* Substitution - Nonsense 23:54014500-54014500 - TCGA-AQ-A04L-01 COSM1491110 c.1111_1112delTT p.L371fs*4 Deletion - Frameshift 23:54002625-54002626 - 19M COSM5579312 c.2715G>A p.Q905Q Substitution - coding silent 23:53940451-53940451 - TCGA-HJ-7597-01 COSM4110240 c.1138C>T p.R380C Substitution - Missense 23:54002158-54002158 - CSCC-56-T COSM4514688 c.984C>T p.F328F Substitution - coding silent 23:54011192-54011192 - TCGA-HU-A4GT-01 COSM4110209 c.2399A>G p.D800G Substitution - Missense 23:53984958-53984958 - TCGA-CG-5730-01 COSM4110251 c.599G>A p.R200H Substitution - Missense 23:54016700-54016700 - TCGA-A5-A0GA-01 COSM1123279 c.489C>A p.T163T Substitution - coding silent 23:54016702-54016702 - SW403 COSM4379724 c.210G>T p.K70N Substitution - Missense 23:54022342-54022342 - 587374 COSM1220389 c.2937G>C p.L979F Substitution - Missense 23:53940229-53940229 - TCGA-BR-6452-01 COSM4110224 c.1768G>A p.D590N Substitution - Missense 23:53992806-53992806 - TCGA-AN-A046-01 COSM3845076 c.2836G>A p.D946N Substitution - Missense 23:53940438-53940438 - TCGA-BF-A1Q0-01 COSM3562428 c.2204C>T p.S735L Substitution - Missense 23:53985153-53985153 - S00539 COSM5658974 c.2308G>T p.A770S Substitution - Missense 23:53985049-53985049 - 4_RESISTANT COSM1724608 c.2491_2493delGAG p.E831delE Deletion - In frame 23:53984972-53984974 - TCGA-D1-A0ZN-01 COSM1599567 c.2701C>T p.R901W Substitution - Missense 23:53944190-53944190 - TCGA-AN-A046-01 COSM3845074 c.2934C>T p.F978F Substitution - coding silent 23:53940232-53940232 - Pat_40_B COSM1724609 c.2383_2385delGAG p.E795delE Deletion - In frame 23:53984972-53984974 - TCGA-D3-A3C8-06 COSM3562440 c.1517G>A p.R506Q Substitution - Missense 23:53993710-53993710 - TCGA-29-2436-01 COSM1331788 c.3057C>T p.R1019R Substitution - coding silent 23:53940217-53940217 - DLD1 COSM3092580 c.128C>T p.A43V Substitution - Missense 23:54022814-54022814 - T3182 COSM1724608 c.2491_2493delGAG p.E831delE Deletion - In frame 23:53984972-53984974 - RK308_C01 COSM3767002 c.3005G>A p.G1002D Substitution - Missense 23:53939228-53939228 - HCC64 COSM3708676 c.2445C>G p.I815M Substitution - Missense 23:53962938-53962938 - TCGA-D1-A0ZN-01 COSM1123265 c.2593C>T p.R865W Substitution - Missense 23:53944190-53944190 - Pat_40_B COSM1724608 c.2491_2493delGAG p.E831delE Deletion - In frame 23:53984972-53984974 - ACC-1 COSM3786754 c.1352C>T p.T451M Substitution - Missense 23:53993875-53993875 - TCGA-AA-A00N-01 COSM276730 c.2130C>T p.T710T Substitution - coding silent 23:53985227-53985227 - B80 COSM1756622 c.1038C>A p.A346A Substitution - coding silent 23:54002258-54002258 - BRC19 COSM5028932 c.2407G>A p.D803N Substitution - Missense 23:53984950-53984950 - TCGA-34-5231-01 COSM756872 c.2071A>G p.I691V Substitution - Missense 23:53985874-53985874 - pfg008T COSM1724609 c.2383_2385delGAG p.E795delE Deletion - In frame 23:53984972-53984974 - TCGA-EE-A29M-06 COSM3092558 c.1044C>T p.F348F Substitution - coding silent 23:54011132-54011132 - DLD1 COSM3092579 c.236C>T p.A79V Substitution - Missense 23:54022814-54022814 - 46M COSM5588628 c.1710G>A p.K570K Substitution - coding silent 23:53993625-53993625 - RKO COSM3092497 c.1702G>A p.A568T Substitution - Missense 23:53993633-53993633 - TCGA-BR-6454-01 COSM4110221 c.1827C>T p.D609D Substitution - coding silent 23:53987848-53987848 - TCGA-G4-6588-01 COSM1220386 c.2318G>A p.R773H Substitution - Missense 23:53985039-53985039 - Pat_29_B COSM1724609 c.2383_2385delGAG p.E795delE Deletion - In frame 23:53984972-53984974 - T3479 COSM1724609 c.2383_2385delGAG p.E795delE Deletion - In frame 23:53984972-53984974 - TCGA-B5-A0JY-01 COSM1599548 c.433A>C p.N145H Substitution - Missense 23:54017790-54017790 - CHC892T COSM4794046 c.2247G>A p.G749G Substitution - coding silent 23:53985110-53985110 - TCGA-EE-A3AG-06 COSM3562445 c.1345C>T p.L449L Substitution - coding silent 23:53995779-53995779 - KPOPBR-03-T COSM5965578 c.1818G>T p.V606V Substitution - coding silent 23:53987857-53987857 - TCGA-B5-A11V-01 COSM1123280 c.428C>T p.T143I Substitution - Missense 23:54017687-54017687 - 538 COSM5611559 c.339G>T p.V113V Substitution - coding silent 23:54017776-54017776 - TCGA-FS-A4FD-06 COSM3562450 c.914T>C p.I305T Substitution - Missense 23:54011262-54011262 - TCGA-FU-A3HZ-01 COSM4840027 c.3010C>T p.R1004C Substitution - Missense 23:53940264-53940264 - TCGA-DD-A3A4-01 COSM4929032 c.410T>G p.L137R Substitution - Missense 23:54017705-54017705 - 46M COSM5588626 c.2869C>T p.R957C Substitution - Missense 23:53940297-53940297 - PCSI_0073_Pa_X COSM3379658 c.3026G>A p.R1009K Substitution - Missense 23:53939207-53939207 - ML_103_T_01 COSM5033867 c.1838+7T>G p.? Unknown 23:53992729-53992729 - TCGA-AN-A046-01 COSM3845093 c.536C>A p.T179N Substitution - Missense 23:54017687-54017687 - TCGA-ER-A19D-06 COSM3562432 c.1828G>A p.E610K Substitution - Missense 23:53987847-53987847 - HCC64T COSM3708675 c.2553C>G p.I851M Substitution - Missense 23:53962938-53962938 - TCGA-C5-A1BK-01 COSM4826262 c.1249G>A p.E417K Substitution - Missense 23:53995767-53995767 - 2530678 COSM1724608 c.2491_2493delGAG p.E831delE Deletion - In frame 23:53984972-53984974 - TCGA-AP-A0LD-01 COSM1123277 c.809G>A p.R270H Substitution - Missense 23:54011259-54011259 - tumor_4159421 COSM5946752 c.1133T>G p.I378S Substitution - Missense 23:54002163-54002163 - TCGA-36-2548-01 COSM1331786 c.2524C>A p.P842T Substitution - Missense 23:53962859-53962859 - T3058 COSM4714027 c.2334C>T p.S778S Substitution - coding silent 23:53985131-53985131 - PCSI_0357_Pa_P_5263 COSM4806557 c.2915C>T p.P972L Substitution - Missense 23:53940251-53940251 - TCGA-BF-A1Q0-01 COSM3562427 c.2312C>T p.S771L Substitution - Missense 23:53985153-53985153 - TCGA-A6-6650-01 COSM3694652 c.1599G>T p.L533L Substitution - coding silent 23:53993628-53993628 - OSCC-GB_00810111 COSM4891221 c.875G>T p.W292L Substitution - Missense 23:54014393-54014393 - 8015299 COSM3780518 c.1919G>A p.R640Q Substitution - Missense 23:53987154-53987154 - TCGA-AA-3555-01 COSM292328 c.1279G>A p.V427I Substitution - Missense 23:53995737-53995737 - TCGA-A5-A0G5-01 COSM292328 c.1279G>A p.V427I Substitution - Missense 23:53995737-53995737 - PTC-14C COSM4156914 c.2689C>T p.R897C Substitution - Missense 23:53944202-53944202 - TCGA-GN-A268-06 COSM3562423 c.2366G>A p.R789Q Substitution - Missense 23:53985099-53985099 - TCGA-B5-A0JY-01 COSM1123263 c.2845C>A p.L949I Substitution - Missense 23:53940321-53940321 - CH-109-T2 COSM5650699 c.365C>T p.T122M Substitution - Missense 23:54022295-54022295 - TCGA-B5-A0JY-01 COSM1599562 c.2154T>C p.L718L Substitution - coding silent 23:53985899-53985899 - Pat_76_B COSM5878066 c.43G>A p.D15N Substitution - Missense 23:54042686-54042686 - PCSI_0357_Pa_P_526 COSM4806556 c.3023C>T p.P1008L Substitution - Missense 23:53940251-53940251 - HCC103 COSM3708679 c.1388T>C p.V463A Substitution - Missense 23:53995736-53995736 - TCGA-D8-A145-01 COSM457761 c.1141G>A p.G381S Substitution - Missense 23:54002155-54002155 - CHC2034T COSM4789782 c.2811G>A p.K937K Substitution - coding silent 23:53940463-53940463 - ASHPC_0001_Pa_P_2 COSM3786754 c.1352C>T p.T451M Substitution - Missense 23:53993875-53993875 - TCGA-BH-A0AW-01 COSM457763 c.57C>T p.F19F Substitution - coding silent 23:54042672-54042672 - HX17T COSM1625993 c.616A>G p.M206V Substitution - Missense 23:54016683-54016683 - Pat_53_A COSM1724608 c.2491_2493delGAG p.E831delE Deletion - In frame 23:53984972-53984974 - tAML-02 COSM211491 c.2444-1G>A p.? Unknown 23:53962940-53962940 - TCGA-BR-7707-01 COSM4110256 c.445C>T p.H149Y Substitution - Missense 23:54017670-54017670 - TCGA-34-5231-01 COSM1648299 c.2179A>G p.I727V Substitution - Missense 23:53985874-53985874 - PCSI_0112_Pa_P COSM3379704 c.631C>T p.R211* Substitution - Nonsense 23:54014529-54014529 - STC297 COSM5064763 c.1624C>T p.R542* Substitution - Nonsense 23:53993711-53993711 - TCGA-G2-A2EC-01 COSM4812708 c.1368C>T p.I456I Substitution - coding silent 23:53995756-53995756 - sysucc-1317T COSM5450656 c.232G>A p.A78T Substitution - Missense 23:54022818-54022818 - 46M COSM5588629 c.1602G>A p.K534K Substitution - coding silent 23:53993625-53993625 - TCGA-AN-A046-01 COSM3845073 c.3042C>T p.F1014F Substitution - coding silent 23:53940232-53940232 - TCGA-A6-6781-01 COSM1468632 c.1666G>T p.D556Y Substitution - Missense 23:53992800-53992800 - T2955 COSM1724609 c.2383_2385delGAG p.E795delE Deletion - In frame 23:53984972-53984974 - TCGA-BS-A0UF-01 COSM1599558 c.1768G>T p.D590Y Substitution - Missense 23:53992806-53992806 - TCGA-EE-A3AG-06 COSM3562446 c.1237C>T p.L413L Substitution - coding silent 23:53995779-53995779 - BD54T COSM5501979 c.99-3C>T p.? Unknown 23:54022846-54022846 - Pat_53_B COSM1724608 c.2491_2493delGAG p.E831delE Deletion - In frame 23:53984972-53984974 - CHC2034T COSM4789783 c.2703G>A p.K901K Substitution - coding silent 23:53940463-53940463 - TCGA-GN-A26A-06 COSM3562442 c.1623G>A p.E541E Substitution - coding silent 23:53993712-53993712 - TCGA-BR-6454-01 COSM4110220 c.1935C>T p.D645D Substitution - coding silent 23:53987848-53987848 - T3111 COSM4714016 c.3072_3073delCC p.Q1025fs*>36 Deletion - Frameshift 23:53940201-53940202 - TCGA-A5-A0G5-01 COSM3092536 c.1387G>A p.V463I Substitution - Missense 23:53995737-53995737 - SJBALL021047_D1 COSM4993961 c.604G>A p.A202T Substitution - Missense 23:54016695-54016695 - T3080 COSM4714035 c.524C>T p.S175L Substitution - Missense 23:54017699-54017699 - TCGA-CG-4440-01 COSM4110229 c.1607G>C p.G536A Substitution - Missense 23:53993620-53993620 - S02139 COSM5674741 c.398T>A p.L133* Substitution - Nonsense 23:54017717-54017717 - YUFIT COSM5412862 c.1766C>T p.S589L Substitution - Missense 23:53992808-53992808 - T1844 COSM1724609 c.2383_2385delGAG p.E795delE Deletion - In frame 23:53984972-53984974 - T3021 COSM3786753 c.1460C>T p.T487M Substitution - Missense 23:53993875-53993875 - Case3 COSM5711839 c.2870G>A p.R957H Substitution - Missense 23:53940296-53940296 - TCGA-AC-A23H-01 COSM3845089 c.574G>C p.E192Q Substitution - Missense 23:54016725-54016725 - TCGA-D7-A4Z0-01 COSM4110244 c.938T>C p.I313T Substitution - Missense 23:54011130-54011130 - TCGA-BR-8382-01 COSM4110205 c.2835A>T p.Q945H Substitution - Missense 23:53940439-53940439 - Pat_53_B COSM1724609 c.2383_2385delGAG p.E795delE Deletion - In frame 23:53984972-53984974 - TCGA-D3-A3C8-06 COSM3562439 c.1625G>A p.R542Q Substitution - Missense 23:53993710-53993710 - TCGA-13-0886-01 COSM72169 c.1231G>A p.E411K Substitution - Missense 23:53999872-53999872 - T3610 COSM1724609 c.2383_2385delGAG p.E795delE Deletion - In frame 23:53984972-53984974 - TCGA-EK-A3GK-01 COSM3562428 c.2204C>T p.S735L Substitution - Missense 23:53985153-53985153 - TCGA-D1-A167-01 COSM1599571 c.3100C>T p.R1034C Substitution - Missense 23:53939241-53939241 - TCGA-D1-A167-01 COSM1123262 c.2992C>T p.R998C Substitution - Missense 23:53939241-53939241 - HCC64T COSM3708676 c.2445C>G p.I815M Substitution - Missense 23:53962938-53962938 - T3182 COSM1724609 c.2383_2385delGAG p.E795delE Deletion - In frame 23:53984972-53984974 - TCGA-EM-A3O6-01 COSM3372297 c.293+1G>T p.? Unknown 23:54022258-54022258 - CHC2206T COSM4956909 c.2715G>T p.Q905H Substitution - Missense 23:53940451-53940451 - HCC103 COSM3708680 c.1280T>C p.V427A Substitution - Missense 23:53995736-53995736 - TCGA-DA-A1HV-06 COSM3562417 c.3147C>T p.I1049I Substitution - coding silent 23:53939194-53939194 - HCC068T COSM5824234 c.1084G>T p.D362Y Substitution - Missense 23:54002653-54002653 - HCT15 COSM3092579 c.236C>T p.A79V Substitution - Missense 23:54022814-54022814 - TCGA-B5-A11G-01 COSM1599550 c.633T>C p.F211F Substitution - coding silent 23:54016666-54016666 - Pat_36_B COSM1724608 c.2491_2493delGAG p.E831delE Deletion - In frame 23:53984972-53984974 - ESCC_136 COSM5643078 c.1074G>T p.L358L Substitution - coding silent 23:54002663-54002663 - STC232 COSM5064766 c.1378G>A p.V460M Substitution - Missense 23:53995746-53995746 - CSCC-20-T COSM4526928 c.1429G>A p.E477K Substitution - Missense 23:53995695-53995695 - ESCC_136 COSM5643079 c.966G>T p.L322L Substitution - coding silent 23:54002663-54002663 - Pat_70_A COSM1724608 c.2491_2493delGAG p.E831delE Deletion - In frame 23:53984972-53984974 - 8015299 COSM3780521 c.1255C>T p.R419* Substitution - Nonsense 23:53999956-53999956 - T3111 COSM4714017 c.2964_2965delCC p.Q989fs*>36 Deletion - Frameshift 23:53940201-53940202 - TCGA-B2-5641-01 COSM488487 c.428C>A p.T143N Substitution - Missense 23:54017687-54017687 - TCGA-DM-A0XF-01 COSM1468629 c.1733C>T p.T578M Substitution - Missense 23:53987942-53987942 - T2955 COSM1724608 c.2491_2493delGAG p.E831delE Deletion - In frame 23:53984972-53984974 - CSCC-16-T COSM4486288 c.2925C>G p.P975P Substitution - coding silent 23:53940241-53940241 - HCC103T COSM3708680 c.1280T>C p.V427A Substitution - Missense 23:53995736-53995736 - HT55 COSM2968679 c.2525C>A p.P842Q Substitution - Missense 23:53962858-53962858 - TCGA-AG-3892-01 COSM257721 c.632G>A p.R211Q Substitution - Missense 23:54014528-54014528 - TCGA-29-1691-01 COSM1331782 c.563-20_563-1del20 p.? Unknown 23:54016737-54016756 - TCGA-BS-A0UJ-01 COSM1123271 c.1897A>G p.I633V Substitution - Missense 23:53987778-53987778 - TCGA-AP-A051-01 COSM1123273 c.1141G>C p.G381R Substitution - Missense 23:54002155-54002155 - ESCC-233T COSM3940050 c.1055-1G>A p.? Unknown 23:54002683-54002683 - 8014741 COSM4946556 c.2119G>C p.D707H Substitution - Missense 23:53985934-53985934 - HCT8 COSM3092579 c.236C>T p.A79V Substitution - Missense 23:54022814-54022814 - 587376 COSM1220388 c.2667A>C p.Q889H Substitution - Missense 23:53940499-53940499 - TCGA-66-2782-01 COSM756870 c.160G>T p.E54* Substitution - Nonsense 23:54022782-54022782 - TCGA-DI-A0WH-01 COSM1123268 c.2090C>T p.A697V Substitution - Missense 23:53985855-53985855 - S01539 COSM4387350 c.1531A>G p.S511G Substitution - Missense 23:53993696-53993696 - TCGA-EK-A2RJ-01 COSM4832149 c.1363G>A p.E455K Substitution - Missense 23:53995761-53995761 - TCGA-AQ-A04L-01 COSM457762 c.1003_1004delTT p.L335fs*4 Deletion - Frameshift 23:54002625-54002626 - TCGA-B5-A11V-01 COSM4873889 c.536C>T p.T179I Substitution - Missense 23:54017687-54017687 - TCGA-EK-A2RJ-01 COSM4832150 c.1255G>A p.E419K Substitution - Missense 23:53995761-53995761 - RK308_C01 COSM3767008 c.1451T>C p.V484A Substitution - Missense 23:53993884-53993884 - T3058 COSM4714028 c.2226C>T p.S742S Substitution - coding silent 23:53985131-53985131 - CSCC-20-T COSM4526929 c.1321G>A p.E441K Substitution - Missense 23:53995695-53995695 - ASHPC_0001_Pa_P_2 COSM3786753 c.1460C>T p.T487M Substitution - Missense 23:53993875-53993875 - TCGA-HP-A5N0-01 COSM4942269 c.2306C>T p.P769L Substitution - Missense 23:53985051-53985051 - TCGA-34-5240-01 COSM1648298 c.1354C>T p.H452Y Substitution - Missense 23:53995770-53995770 - TCGA-BS-A0UJ-01 COSM1599560 c.2005A>G p.I669V Substitution - Missense 23:53987778-53987778 - TCGA-C5-A1BK-01 COSM4826261 c.1357G>A p.E453K Substitution - Missense 23:53995767-53995767 - SW620 COSM2968664 c.2838C>A p.D946E Substitution - Missense 23:53940436-53940436 - CRC-02T COSM5455901 c.294-10C>T p.? Unknown 23:54017831-54017831 - B80-Tumor COSM1756621 c.1146C>A p.A382A Substitution - coding silent 23:54002258-54002258 - TCGA-D1-A103-01 COSM1123261 c.3070C>A p.L1024M Substitution - Missense 23:53939163-53939163 - TCGA-CG-5721-01 COSM4110232 c.1323+2T>C p.? Unknown 23:53995691-53995691 - TCGA-AN-A046-01 COSM3845080 c.2074C>A p.L692I Substitution - Missense 23:53985871-53985871 - OSCC-GB_00840111 COSM4887403 c.174G>T p.G58G Substitution - coding silent 23:54022768-54022768 - TCGA-EE-A29M-06 COSM3092559 c.936C>T p.F312F Substitution - coding silent 23:54011132-54011132 - ACINAR01 COSM1734871 c.2414C>A p.P805H Substitution - Missense 23:53985051-53985051 - BD175T COSM5507958 c.2849C>T p.A950V Substitution - Missense 23:53940317-53940317 - TCGA-34-5240-01 COSM756871 c.1246C>T p.H416Y Substitution - Missense 23:53995770-53995770 - TCGA-B5-A0JY-01 COSM1123281 c.325A>C p.N109H Substitution - Missense 23:54017790-54017790 - TCGA-AP-A0LD-01 COSM4874307 c.917G>A p.R306H Substitution - Missense 23:54011259-54011259 - TCGA-BR-6452-01 COSM4110225 c.1660G>A p.D554N Substitution - Missense 23:53992806-53992806 - CHC2206T COSM4956908 c.2823G>T p.Q941H Substitution - Missense 23:53940451-53940451 - TCGA-HC-7231-01 COSM1472216 c.1096T>G p.F366V Substitution - Missense 23:54002641-54002641 - CHC892T COSM4794045 c.2355G>A p.G785G Substitution - coding silent 23:53985110-53985110 - TCGA-AA-3821-01 COSM294699 c.1126C>A p.L376M Substitution - Missense 23:54002170-54002170 - TCGA-BR-8361-01 COSM4110213 c.2284C>T p.L762L Substitution - coding silent 23:53985073-53985073 - TCGA-D1-A103-01 COSM1599554 c.1248C>T p.R416R Substitution - coding silent 23:54002156-54002156 - TCGA-E9-A3Q9-01 COSM3845083 c.1435A>G p.M479V Substitution - Missense 23:53993792-53993792 - T3724 COSM4714032 c.1727G>A p.G576D Substitution - Missense 23:53992739-53992739 - HN_62532 COSM121545 c.2904C>T p.R968R Substitution - coding silent 23:53940262-53940262 - TCGA-F4-6570-01 COSM1468635 c.186C>T p.C62C Substitution - coding silent 23:54042651-54042651 - T3724 COSM4714031 c.1835G>A p.G612D Substitution - Missense 23:53992739-53992739 - S01539 COSM4387349 c.1639A>G p.S547G Substitution - Missense 23:53993696-53993696 - OSCC-GB_00990111 COSM4885676 c.563G>T p.G188V Substitution - Missense 23:54016736-54016736 - SJBALL021047_D1 COSM4993962 c.496G>A p.A166T Substitution - Missense 23:54016695-54016695 - TCGA-BS-A0UF-01 COSM1123272 c.1660G>T p.D554Y Substitution - Missense 23:53992806-53992806 - HX17T COSM1625994 c.508A>G p.M170V Substitution - Missense 23:54016683-54016683 - CHC1044T COSM4790968 c.19A>G p.I7V Substitution - Missense 23:54042818-54042818 - TCGA-HU-A4GT-01 COSM4110208 c.2507A>G p.D836G Substitution - Missense 23:53984958-53984958 - TCGA-GI-A2C8-01 COSM1491098 c.2854A>T p.T952S Substitution - Missense 23:53940420-53940420 - TCGA-AN-A0FJ-01 COSM457760 c.1834G>C p.D612H Substitution - Missense 23:53987841-53987841 - 4_RESISTANT COSM1724609 c.2383_2385delGAG p.E795delE Deletion - In frame 23:53984972-53984974 - PCSI_0357_Pa_P_5263 COSM4806556 c.3023C>T p.P1008L Substitution - Missense 23:53940251-53940251 - TCGA-D8-A145-01 COSM1491108 c.1249G>A p.G417S Substitution - Missense 23:54002155-54002155 - CHC2206T COSM4956909 c.2715G>T p.Q905H Substitution - Missense 23:53940451-53940451 - S01023 COSM5666907 c.104C>A p.A35E Substitution - Missense 23:54042733-54042733 - CSCC-32-T COSM4461060 c.1191C>T p.F397F Substitution - coding silent 23:54002213-54002213 - S02139 COSM5674740 c.506T>A p.L169* Substitution - Nonsense 23:54017717-54017717 - RK308_C01 COSM3767009 c.1343T>C p.V448A Substitution - Missense 23:53993884-53993884 - BD54T COSM5501978 c.207-3C>T p.? Unknown 23:54022846-54022846 - C0075T COSM4154982 c.768G>A p.W256* Substitution - Nonsense 23:54014500-54014500 - TCGA-A6-6650-01 COSM3694651 c.1707G>T p.L569L Substitution - coding silent 23:53993628-53993628 - 8015299 COSM3780517 c.2027G>A p.R676Q Substitution - Missense 23:53987154-53987154 - TCGA-F4-6570-01 COSM1468636 c.78C>T p.C26C Substitution - coding silent 23:54042651-54042651 - 4436_CLM COSM5757556 c.1906C>T p.P636S Substitution - Missense 23:53987769-53987769 - RK144_C01 COSM3767004 c.1828T>A p.S610T Substitution - Missense 23:53992746-53992746 - ACINAR01 COSM1734872 c.2306C>A p.P769H Substitution - Missense 23:53985051-53985051 - YULAPE COSM1715010 c.922_923GG>AA p.G308K Substitution - Missense 23:54011145-54011146 - Pat_70_B COSM1724608 c.2491_2493delGAG p.E831delE Deletion - In frame 23:53984972-53984974 - Pat_29_A COSM1724609 c.2383_2385delGAG p.E795delE Deletion - In frame 23:53984972-53984974 - TCGA-GN-A262-06 COSM3562462 c.369C>T p.F123F Substitution - coding silent 23:54022291-54022291 - Pat_76_A COSM5878066 c.43G>A p.D15N Substitution - Missense 23:54042686-54042686 - TCGA-EM-A3O6-01 COSM3372296 c.401+1G>T p.? Unknown 23:54022258-54022258 - Pat_76_A COSM5878065 c.151G>A p.D51N Substitution - Missense 23:54042686-54042686 - cSCCP5 COSM138155 c.1626+1G>A p.? Unknown 23:53993600-53993600 - ATL001 COSM5711711 c.2542C>T p.R848C Substitution - Missense 23:53944241-53944241 - TCGA-BR-6452-01 COSM3562432 c.1828G>A p.E610K Substitution - Missense 23:53987847-53987847 - TCGA-DD-A1EL-01 COSM4926013 c.1265A>G p.E422G Substitution - Missense 23:53995751-53995751 - TCGA-DD-A3A4-01 COSM4929031 c.518T>G p.L173R Substitution - Missense 23:54017705-54017705 - STC232 COSM5064771 c.544G>A p.G182R Substitution - Missense 23:54016647-54016647 - OSCC-GB_00990111 COSM4885677 c.455G>T p.G152V Substitution - Missense 23:54016736-54016736 - OSCC-GB_00840111 COSM4887402 c.282G>T p.G94G Substitution - coding silent 23:54022768-54022768 - TCGA-AR-A24Q-01 COSM1491102 c.1645G>A p.A549T Substitution - Missense 23:53993690-53993690 - T3021 COSM3786754 c.1352C>T p.T451M Substitution - Missense 23:53993875-53993875 - TCGA-EE-A2MJ-06 COSM3562459 c.289G>T p.D97Y Substitution - Missense 23:54022263-54022263 - TCGA-BS-A0UV-01 COSM1599565 c.2473G>A p.E825K Substitution - Missense 23:53984992-53984992 - TCGA-FW-A3R5-06 COSM3562463 c.261C>T p.F87F Substitution - coding silent 23:54022291-54022291 - TCGA-BP-4998-01 COSM488488 c.267A>G p.R89R Substitution - coding silent 23:54022285-54022285 - PCSI_0073_Pa_P_526 COSM3379658 c.3026G>A p.R1009K Substitution - Missense 23:53939207-53939207 - LUAD-RT-S01813 COSM383647 c.376C>A p.L126M Substitution - Missense 23:54017739-54017739 - TCGA-B5-A11G-01 COSM1123278 c.525T>C p.F175F Substitution - coding silent 23:54016666-54016666 - TCGA-29-2436-01 COSM1331789 c.2949C>T p.R983R Substitution - coding silent 23:53940217-53940217 - TCGA-B8-4154-01 COSM4857383 c.1816G>T p.A606S Substitution - Missense 23:53992758-53992758 - CRC-06T COSM3092530 c.1497C>T p.A499A Substitution - coding silent 23:53993838-53993838 - TCGA-EE-A3AG-06 COSM3562420 c.2909C>T p.P970L Substitution - Missense 23:53940365-53940365 - TCGA-HJ-7597-01 COSM4110239 c.1246C>T p.R416C Substitution - Missense 23:54002158-54002158 - T3080 COSM4714036 c.416C>T p.S139L Substitution - Missense 23:54017699-54017699 - STC297 COSM5064764 c.1516C>T p.R506* Substitution - Nonsense 23:53993711-53993711 - ACC-1 COSM3786753 c.1460C>T p.T487M Substitution - Missense 23:53993875-53993875 - PCSI_0073_Pa_P_526 COSM3379657 c.3134G>A p.R1045K Substitution - Missense 23:53939207-53939207 - RK308_C01 COSM3767001 c.3113G>A p.G1038D Substitution - Missense 23:53939228-53939228 - CRC-06T COSM3092531 c.1389C>T p.A463A Substitution - coding silent 23:53993838-53993838 - TCGA-GN-A26A-06 COSM3562443 c.1515G>A p.E505E Substitution - coding silent 23:53993712-53993712 - RK144_C01 COSM3767005 c.1720T>A p.S574T Substitution - Missense 23:53992746-53992746 - sysucc-1370T COSM5472894 c.2457G>T p.L819L Substitution - coding silent 23:53962926-53962926 - 4436_CLM COSM5757555 c.2014C>T p.P672S Substitution - Missense 23:53987769-53987769 - T1844 COSM1724608 c.2491_2493delGAG p.E831delE Deletion - In frame 23:53984972-53984974 - BRC19 COSM5028931 c.2515G>A p.D839N Substitution - Missense 23:53984950-53984950 - TCGA-DM-A0XF-01 COSM1468628 c.1841C>T p.T614M Substitution - Missense 23:53987942-53987942 - 538 COSM5611558 c.447G>T p.V149V Substitution - coding silent 23:54017776-54017776 - TCGA-B5-A11E-01 COSM1599552 c.1137G>T p.Q379H Substitution - Missense 23:54002600-54002600 - TCGA-BR-8368-01 COSM4110235 c.1324G>T p.A442S Substitution - Missense 23:53999887-53999887 - TCGA-B5-A0JY-01 COSM1599572 c.3178C>A p.L1060M Substitution - Missense 23:53939163-53939163 - TCGA-GI-A2C8-01 COSM1491099 c.2746A>T p.T916S Substitution - Missense 23:53940420-53940420 - TCGA-D1-A103-01 COSM1123274 c.1140C>T p.R380R Substitution - coding silent 23:54002156-54002156 - TCGA-G2-A3IE-01 COSM1468634 c.304C>T p.R102C Substitution - Missense 23:54022356-54022356 - TCGA-EK-A3GK-01 COSM3562427 c.2312C>T p.S771L Substitution - Missense 23:53985153-53985153 - TCGA-BR-8382-01 COSM4110206 c.2727A>T p.Q909H Substitution - Missense 23:53940439-53940439 - TCGA-LP-A4AV-01 COSM4825436 c.203C>T p.S68F Substitution - Missense 23:54022349-54022349 - S00539 COSM5658973 c.2416G>T p.A806S Substitution - Missense 23:53985049-53985049 - HCA46 COSM4629617 c.864C>G p.G288G Substitution - coding silent 23:54014404-54014404 - TCGA-AR-A24Q-01 COSM1491103 c.1537G>A p.A513T Substitution - Missense 23:53993690-53993690 - TCGA-ER-A19D-06 COSM3562431 c.1936G>A p.E646K Substitution - Missense 23:53987847-53987847 - TCGA-DD-A1EL-01 COSM4926012 c.1373A>G p.E458G Substitution - Missense 23:53995751-53995751 - TCGA-B0-5400-01 COSM4857548 c.563-2A>G p.? Unknown 23:54016738-54016738 - TCGA-29-1691-01 COSM1331783 c.455-20_455-1del20 p.? Unknown 23:54016737-54016756 - CSCC-32-T COSM4461061 c.1083C>T p.F361F Substitution - coding silent 23:54002213-54002213 - TCGA-HC-7231-01 COSM1472217 c.988T>G p.F330V Substitution - Missense 23:54002641-54002641 - TCGA-BH-A0HF-01 COSM3845085 c.990G>A p.G330G Substitution - coding silent 23:54011186-54011186 - SW1463 COSM3092485 c.1833C>T p.N611N Substitution - coding silent 23:53992741-53992741 - TCGA-BR-4184-01 COSM4110217 c.1889C>T p.A630V Substitution - Missense 23:53987786-53987786 - OSCC-GB_00620111 COSM4881508 c.538G>T p.V180L Substitution - Missense 23:54017685-54017685 - BD175T COSM5507957 c.2957C>T p.A986V Substitution - Missense 23:53940317-53940317 - TCGA-AA-3696-01 COSM268512 c.1918C>T p.R640W Substitution - Missense 23:53987155-53987155 - CSCC-54-T COSM4523658 c.1119G>A p.K373K Substitution - coding silent 23:54002177-54002177 - TCGA-AP-A051-01 COSM1599556 c.1249G>C p.G417R Substitution - Missense 23:54002155-54002155 - TCGA-FS-A4FD-06 COSM3562451 c.806T>C p.I269T Substitution - Missense 23:54011262-54011262 - Pat_29_A COSM1724608 c.2491_2493delGAG p.E831delE Deletion - In frame 23:53984972-53984974 - T3049 COSM4714039 c.101G>A p.R34Q Substitution - Missense 23:54042736-54042736 - CHC2034T COSM4789782 c.2811G>A p.K937K Substitution - coding silent 23:53940463-53940463 - TCGA-BR-8361-01 COSM4110212 c.2392C>T p.L798L Substitution - coding silent 23:53985073-53985073 - TCGA-B5-A0JY-01 COSM1123261 c.3070C>A p.L1024M Substitution - Missense 23:53939163-53939163 - Pat_36_B COSM1724609 c.2383_2385delGAG p.E795delE Deletion - In frame 23:53984972-53984974 - PTC-14C COSM4156915 c.2581C>T p.R861C Substitution - Missense 23:53944202-53944202 - CSCC-29-T COSM4564347 c.1145_1146CC>TT p.A382V Substitution - Missense 23:54002258-54002259 - TCGA-GN-A262-06 COSM3562463 c.261C>T p.F87F Substitution - coding silent 23:54022291-54022291 - tAML-02 COSM211021 c.2444-1C>T p.? Unknown SW1463 COSM3092486 c.1725C>T p.N575N Substitution - coding silent 23:53992741-53992741 - STC232 COSM5064767 c.1270G>A p.V424M Substitution - Missense 23:53995746-53995746 - TCGA-AN-A0FJ-01 COSM1491100 c.1942G>C p.D648H Substitution - Missense 23:53987841-53987841 - TCGA-E9-A3Q9-01 COSM3845082 c.1543A>G p.M515V Substitution - Missense 23:53993792-53993792 - sysucc-1317T COSM5450657 c.124G>A p.A42T Substitution - Missense 23:54022818-54022818 - PT34 COSM5911155 c.344C>G p.P115R Substitution - Missense 23:54022316-54022316 - RKO COSM3092498 c.1594G>A p.A532T Substitution - Missense 23:53993633-53993633 - TCGA-BR-7707-01 COSM4110255 c.553C>T p.H185Y Substitution - Missense 23:54017670-54017670 - C0011T COSM4154987 c.104T>A p.V35D Substitution - Missense 23:54022838-54022838 - Pat_41_B COSM1724609 c.2383_2385delGAG p.E795delE Deletion - In frame 23:53984972-53984974 - TCGA-BR-6566-01 COSM4110259 c.138C>T p.C46C Substitution - coding silent 23:54042699-54042699 - YURAY COSM5412866 c.1284C>T p.Y428Y Substitution - coding silent 23:53999927-53999927 - T3535 COSM4714020 c.2796C>T p.S932S Substitution - coding silent 23:53940370-53940370 - NCI-H835 COSM3092570 c.461A>G p.E154G Substitution - Missense 23:54017762-54017762 - TCGA-C8-A1HK-01 COSM1491105 c.1256G>A p.R419Q Substitution - Missense 23:53999955-53999955 - TCGA-BS-A0TG-01 COSM1123279 c.489C>A p.T163T Substitution - coding silent 23:54016702-54016702 - TCGA-AP-A059-01 COSM1599569 c.2808G>A p.L936L Substitution - coding silent 23:53940466-53940466 - TCGA-BR-8368-01 COSM4110236 c.1216G>T p.A406S Substitution - Missense 23:53999887-53999887 - TCGA-BH-A0HF-01 COSM3845086 c.882G>A p.G294G Substitution - coding silent 23:54011186-54011186 - TCGA-BH-A0AW-01 COSM1491112 c.165C>T p.F55F Substitution - coding silent 23:54042672-54042672 - CSCC-54-T COSM4523657 c.1227G>A p.K409K Substitution - coding silent 23:54002177-54002177 - TCGA-F4-6570-01 COSM1468627 c.2108delG p.G703fs*126 Deletion - Frameshift 23:53985837-53985837 - HCC64 COSM3708675 c.2553C>G p.I851M Substitution - Missense 23:53962938-53962938 - TCGA-BR-4184-01 COSM4110216 c.1997C>T p.A666V Substitution - Missense 23:53987786-53987786 - B80-Tumor COSM1756622 c.1038C>A p.A346A Substitution - coding silent 23:54002258-54002258 - TCGA-36-2548-01 COSM1331785 c.2632C>A p.P878T Substitution - Missense 23:53962859-53962859 - C0011T COSM4154986 c.212T>A p.V71D Substitution - Missense 23:54022838-54022838 - TCGA-DD-A4NF-01 COSM4912756 c.1317G>A p.L439L Substitution - coding silent 23:53995699-53995699 - CHC892T COSM4794045 c.2355G>A p.G785G Substitution - coding silent 23:53985110-53985110 - Pat_41_A COSM1724609 c.2383_2385delGAG p.E795delE Deletion - In frame 23:53984972-53984974 - 585208 COSM326141 c.2020A>T p.M674L Substitution - Missense 23:53985925-53985925 - ATL001 COSM5711710 c.2650C>T p.R884C Substitution - Missense 23:53944241-53944241 - cSCCP4 COSM139243 c.2576C>T p.P859L Substitution - Missense 23:53944207-53944207 - PCSI_0357_Pa_P_526 COSM4806557 c.2915C>T p.P972L Substitution - Missense 23:53940251-53940251 - ASHPC_0019_Pa_P COSM4806557 c.2915C>T p.P972L Substitution - Missense 23:53940251-53940251 - Pat_76_B COSM5878065 c.151G>A p.D51N Substitution - Missense 23:54042686-54042686 - ESCC-015T COSM3940054 c.681T>C p.I227I Substitution - coding silent 23:54016618-54016618 - TCGA-DI-A0WH-01 COSM1123276 c.941C>A p.P314H Substitution - Missense 23:54011127-54011127 - tumor_4159421 COSM5946751 c.1241T>G p.I414S Substitution - Missense 23:54002163-54002163 - TCGA-FU-A3HZ-01 COSM4840028 c.2902C>T p.R968C Substitution - Missense 23:53940264-53940264 - TCGA-BP-4998-01 COSM4858012 c.375A>G p.R125R Substitution - coding silent 23:54022285-54022285 - TCGA-DI-A0WH-01 COSM4870853 c.1049C>A p.P350H Substitution - Missense 23:54011127-54011127 - TCGA-LP-A4AV-01 COSM4825435 c.311C>T p.S104F Substitution - Missense 23:54022349-54022349 - TCGA-AP-A0LO-01 COSM1123279 c.489C>A p.T163T Substitution - coding silent 23:54016702-54016702 - TCGA-FW-A3TU-06 COSM3562435 c.1847G>C p.R616T Substitution - Missense 23:53987936-53987936 - LUAD-B00859 COSM355691 c.873G>A p.M291I Substitution - Missense 23:54011195-54011195 - TCGA-FW-A3R5-06 COSM3562462 c.369C>T p.F123F Substitution - coding silent 23:54022291-54022291 - T3479 COSM1724608 c.2491_2493delGAG p.E831delE Deletion - In frame 23:53984972-53984974 - Pat_41_A COSM1724608 c.2491_2493delGAG p.E831delE Deletion - In frame 23:53984972-53984974 - TCGA-G4-6588-01 COSM1468625 c.2426G>A p.R809H Substitution - Missense 23:53985039-53985039 - TCGA-B0-5400-01 COSM488486 c.455-2A>G p.? Unknown 23:54016738-54016738 - KPOPBR-03-T COSM5965577 c.1926G>T p.V642V Substitution - coding silent 23:53987857-53987857 - 0038_CRUK_PC_0038_T1_DNA COSM5423008 c.1739A>G p.N580S Substitution - Missense 23:53992835-53992835 - T3535 COSM4714023 c.2587G>A p.G863R Substitution - Missense 23:53944196-53944196 - SW620 COSM2968665 c.2730C>A p.D910E Substitution - Missense 23:53940436-53940436 - Pat_70_B COSM1724609 c.2383_2385delGAG p.E795delE Deletion - In frame 23:53984972-53984974 - CSCC-16-T COSM4486287 c.3033C>G p.P1011P Substitution - coding silent 23:53940241-53940241 - TCGA-B8-4154-01 COSM488485 c.1708G>T p.A570S Substitution - Missense 23:53992758-53992758 - STC232 COSM5064770 c.652G>A p.G218R Substitution - Missense 23:54016647-54016647 - HCT8 COSM3092580 c.128C>T p.A43V Substitution - Missense 23:54022814-54022814 - CHC2034T COSM4789783 c.2703G>A p.K901K Substitution - coding silent 23:53940463-53940463 - CRC-02T COSM5455900 c.402-10C>T p.? Unknown 23:54017831-54017831 - 0038_CRUK_PC_0038_T1_DNA COSM5423009 c.1631A>G p.N544S Substitution - Missense 23:53992835-53992835 - Case3 COSM5711838 c.2978G>A p.R993H Substitution - Missense 23:53940296-53940296 - TCGA-B5-A0JY-01 COSM1123270 c.2046T>C p.L682L Substitution - coding silent 23:53985899-53985899 - TCGA-G2-A2EC-01 COSM1315602 c.1260C>T p.I420I Substitution - coding silent 23:53995756-53995756 - TCGA-HP-A5N0-01 COSM4942268 c.2414C>T p.P805L Substitution - Missense 23:53985051-53985051 - Pat_70_A COSM1724609 c.2383_2385delGAG p.E795delE Deletion - In frame 23:53984972-53984974 - PD7274a COSM3720037 c.2043G>A p.A681A Substitution - coding silent 23:53987138-53987138 - TCGA-FW-A3TU-06 COSM3562436 c.1739G>C p.R580T Substitution - Missense 23:53987936-53987936 - TCGA-EE-A3AG-06 COSM3562421 c.2801C>T p.P934L Substitution - Missense 23:53940365-53940365 - B80 COSM1756621 c.1146C>A p.A382A Substitution - coding silent 23:54002258-54002258 - ML_103_T_01 COSM5033868 c.1730+7T>G p.? Unknown 23:53992729-53992729 - PCSI_0112_Pa_P COSM3379703 c.739C>T p.R247* Substitution - Nonsense 23:54014529-54014529 - TCGA-D7-A4Z0-01 COSM4110243 c.1046T>C p.I349T Substitution - Missense 23:54011130-54011130 - TCGA-CG-5730-01 COSM4110252 c.491G>A p.R164H Substitution - Missense 23:54016700-54016700 - OSCC-GB_00620111 COSM4881509 c.430G>T p.V144L Substitution - Missense 23:54017685-54017685 - SW403 COSM4379723 c.318G>T p.K106N Substitution - Missense 23:54022342-54022342 - Pat_41_B COSM1724608 c.2491_2493delGAG p.E831delE Deletion - In frame 23:53984972-53984974 - HCT15 COSM3092580 c.128C>T p.A43V Substitution - Missense 23:54022814-54022814 - PALIBN COSM1169364 c.281G>C p.R94T Substitution - Missense 23:54022271-54022271 - TCGA-AN-A046-01 COSM488487 c.428C>A p.T143N Substitution - Missense 23:54017687-54017687 - T3610 COSM1724608 c.2491_2493delGAG p.E831delE Deletion - In frame 23:53984972-53984974 - TCGA-BT-A2LA-01 COSM1315606 c.69G>C p.T23T Substitution - coding silent 23:54042768-54042768 - NCI-H835 COSM3092571 c.353A>G p.E118G Substitution - Missense 23:54017762-54017762 - TCGA-B2-5641-01 COSM3845093 c.536C>A p.T179N Substitution - Missense 23:54017687-54017687 - CSCC-56-T COSM4514689 c.876C>T p.F292F Substitution - coding silent 23:54011192-54011192 - Pat_29_B COSM1724608 c.2491_2493delGAG p.E831delE Deletion - In frame 23:53984972-53984974 - HCC068T COSM5824235 c.976G>T p.D326Y Substitution - Missense 23:54002653-54002653 - TCGA-24-2289-01 COSM115817 c.1732A>G p.T578A Substitution - Missense 23:53987943-53987943 - OSCC-GB_00810111 COSM4891222 c.767G>T p.W256L Substitution - Missense 23:54014393-54014393 - LUAD-D02085 COSM363470 c.1092T>G p.F364L Substitution - Missense 23:54002204-54002204 - PCSI_0073_Pa_X COSM3379657 c.3134G>A p.R1045K Substitution - Missense 23:53939207-53939207 - TCGA-EE-A3AE-06 COSM3562455 c.306G>A p.V102V Substitution - coding silent 23:54017809-54017809 - TCGA-DD-A4NF-01 COSM4912755 c.1425G>A p.L475L Substitution - coding silent 23:53995699-53995699 - TCGA-04-1644-01 COSM1331781 c.51C>T p.P17P Substitution - coding silent 23:54042786-54042786 - PD7274a COSM3720038 c.1935G>A p.A645A Substitution - coding silent 23:53987138-53987138 - HT55 COSM2968678 c.2633C>A p.P878Q Substitution - Missense 23:53962858-53962858 - TCGA-DA-A1HV-06 COSM3562418 c.3039C>T p.I1013I Substitution - coding silent 23:53939194-53939194 - 2530678 COSM1724609 c.2383_2385delGAG p.E795delE Deletion - In frame 23:53984972-53984974 - PT34 COSM5911156 c.236C>G p.P79R Substitution - Missense 23:54022316-54022316 - TCGA-EE-A3AE-06 COSM3562454 c.414G>A p.V138V Substitution - coding silent 23:54017809-54017809 - Patient_1 COSM5044687 c.1624C>A p.R542R Substitution - coding silent 23:53993711-53993711 - Pat_53_A COSM1724609 c.2383_2385delGAG p.E795delE Deletion - In frame 23:53984972-53984974 - T3535 COSM4714019 c.2904C>T p.S968S Substitution - coding silent 23:53940370-53940370 - sysucc-1370T COSM5472893 c.2565G>T p.L855L Substitution - coding silent 23:53962926-53962926 - CSCC-29-T COSM4564348 c.1037_1038CC>TT p.A346V Substitution - Missense 23:54002258-54002259 - TCGA-B5-A11E-01 COSM1123275 c.1029G>T p.Q343H Substitution - Missense 23:54002600-54002600 - TCGA-GN-A268-06 COSM3562424 c.2258G>A p.R753Q Substitution - Missense 23:53985099-53985099 - TCGA-AN-A046-01 COSM3845079 c.2182C>A p.L728I Substitution - Missense 23:53985871-53985871 - SC_9099 COSM5570403 c.2554A>G p.T852A Substitution - Missense 23:53944229-53944229 - TCGA-EE-A2MJ-06 COSM3562458 c.397G>T p.D133Y Substitution - Missense 23:54022263-54022263 - TCGA-BR-6566-01 COSM4110260 c.30C>T p.C10C Substitution - coding silent 23:54042699-54042699 - SC_9099 COSM5570402 c.2662A>G p.T888A Substitution - Missense 23:53944229-53944229 - TCGA-BR-6452-01 COSM4110248 c.924A>G p.G308G Substitution - coding silent 23:54011144-54011144 - Patient_1 COSM5044688 c.1516C>A p.R506R Substitution - coding silent 23:53993711-53993711 - TCGA-B5-A11E-01 COSM1123269 c.2083C>T p.L695F Substitution - Missense 23:53985862-53985862 - TCGA-B5-A11E-01 COSM1599564 c.2191C>T p.L731F Substitution - Missense 23:53985862-53985862 - TCGA-66-2782-01 COSM1648297 c.268G>T p.E90* Substitution - Nonsense 23:54022782-54022782 - TCGA-AP-A059-01 COSM1123264 c.2700G>A p.L900L Substitution - coding silent 23:53940466-53940466 - TCGA-B5-A0JY-01 COSM1599570 c.2953C>A p.L985I Substitution - Missense 23:53940321-53940321 - TCGA-09-2044-01 COSM72168 c.1337A>G p.Q446R Substitution - Missense 23:53993890-53993890 - TCGA-BS-A0UV-01 COSM1123266 c.2365G>A p.E789K Substitution - Missense 23:53984992-53984992 - TCGA-AC-A3YJ-01 COSM3845095 c.45G>A p.P15P Substitution - coding silent 23:54042792-54042792 - ESCC-015T COSM3940055 c.573T>C p.I191I Substitution - coding silent 23:54016618-54016618 - TCGA-G2-A3IE-01 COSM1315604 c.196C>T p.R66C Substitution - Missense 23:54022356-54022356 - TCGA-28-5207-01 COSM3406484 c.928G>C p.A310P Substitution - Missense 23:54011248-54011248 - YUFIT COSM5412863 c.1658C>T p.S553L Substitution - Missense 23:53992808-53992808 - YULAPE COSM1715009 c.1030_1031GG>AA p.G344K Substitution - Missense 23:54011145-54011146 - T3535 COSM4714022 c.2695G>A p.G899R Substitution - Missense 23:53944196-53944196 - TCGA-F4-6570-01 COSM1468626 c.2216delG p.G739fs*126 Deletion - Frameshift 23:53985837-53985837 - TCGA-28-5207-01 COSM3406485 c.820G>C p.A274P Substitution - Missense 23:54011248-54011248 - ESCC-233T COSM3940051 c.947-1G>A p.? Unknown 23:54002683-54002683 - ICGC_0048 COSM219034 c.2011G>C p.D671H Substitution - Missense 23:53985934-53985934 - CH-109-T2 COSM5650700 c.257C>T p.T86M Substitution - Missense 23:54022295-54022295 - HCA46 COSM4629618 c.756C>G p.G252G Substitution - coding silent 23:54014404-54014404 - HCC103T COSM3708679 c.1388T>C p.V463A Substitution - Missense 23:53995736-53995736 - TCGA-CG-4440-01 COSM4110228 c.1715G>C p.G572A Substitution - Missense 23:53993620-53993620 - CHC1044T COSM4790968 c.19A>G p.I7V Substitution - Missense 23:54042818-54042818 - TCGA-A6-6781-01 COSM1468631 c.1774G>T p.D592Y Substitution - Missense 23:53992800-53992800 - TCGA-C8-A1HK-01 COSM1491106 c.1148G>A p.R383Q Substitution - Missense 23:53999955-53999955 - TCGA-Q1-A6DT-01 COSM4850814 c.775G>A p.E259K Substitution - Missense 23:54014493-54014493 - TCGA-D1-A103-01 COSM1599572 c.3178C>A p.L1060M Substitution - Missense 23:53939163-53939163 - TCGA-24-0979-01 COSM72167 c.2358G>C p.W786C Substitution - Missense 23:53984999-53984999 - CHC2206T COSM4956908 c.2823G>T p.Q941H Substitution - Missense 23:53940451-53940451 - TCGA-BR-6452-01 COSM3562431 c.1936G>A p.E646K Substitution - Missense 23:53987847-53987847 - 8014741 COSM219034 c.2011G>C p.D671H Substitution - Missense 23:53985934-53985934 - 8015299 COSM3780522 c.1147C>T p.R383* Substitution - Nonsense 23:53999956-53999956 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.731707 Xp11.22 300560

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AA - Frameshift p.L371Tfs*4 c.1111_1112delTT X 54029058 BRCA A C Missense p.F366V c.1096T>G X 54029074 PRAD A G IntronicSNV . c.2648-2359T>C X 53973035 CLL A G Synonymous p.F211F c.633T>C X 54043099 UCEC A T 3-UTRSNV . c.3180+1655T>A X 53963939 MB C A Missense p.A606S c.1816G>T X 54019191 RCCC C A Missense p.D133Y c.397G>T X 54048696 CM C A Nonsense p.E90* c.268G>T X 54049215 LUSC C A SpliceDonorSNV . c.401+1G>T X 54048691 THCA C A Synonymous p.G812G c.2436G>T X 54011462 BRCA C A Synonymous p.T359T c.1077G>T X 54029093 LUAD C G Missense p.A310P c.928G>C X 54037681 GBM C G Missense p.D648H c.1942G>C X 54014274 BRCA C G Missense p.D707H c.2119G>C X 54012367 PAAD C G Missense p.G572A c.1715G>C X 54020053 STAD C G Missense p.W822C c.2466G>C X 54011432 OV C G Synonymous p.T23T c.69G>C X 54069201 BLCA CTC - InFrameDeletion p.E831delE c.2491_2493delGAG X 54011405 PRAD CTC - InFrameDeletion p.E831delE c.2491_2493delGAG X 54011405 THCA C T IntronicSNV . c.207-6609G>A X 54055885 CLL C T Missense p.A549T c.1645G>A X 54020123 BRCA C T Missense p.D839N c.2515G>A X 54011383 BRCA C T Missense p.E447K c.1339G>A X 54026305 OV C T Missense p.E646K c.1936G>A X 54014280 CM C T Missense p.G1032E c.3095G>A X 53965679 CM C T Missense p.G417S c.1249G>A X 54028588 BRCA C T Missense p.G525S c.1573G>A X 54020195 LUAD C T Missense p.R102H c.305G>A X 54048788 MM C T Missense p.R200H c.599G>A X 54043133 STAD C T Missense p.R306H c.917G>A X 54037692 UCEC C T Missense p.R419Q c.1256G>A X 54026388 BRCA C T Missense p.R542Q c.1625G>A X 54020143 CM C T Missense p.R789Q c.2366G>A X 54011532 CM C T Missense p.V463I c.1387G>A X 54022170 UCEC C T Synonymous p.E541E c.1623G>A X 54020145 CM C T Synonymous p.K915K c.2745G>A X 53970579 GBM C T Synonymous p.L556L c.1668G>A X 54020100 CM C T Synonymous p.V138V c.414G>A X 54044242 CM G A IntronicSNV . c.2551+606C>T X 54010741 CLL G A IntronicSNV . c.2647+5769C>T X 53983508 PIA G A Missense p.H355Y c.1063C>T X 54029107 LUAD G A Missense p.H452Y c.1354C>T X 54022203 LUSC G A Missense p.P887L c.2660C>T X 53970664 CM G A Missense p.P970L c.2909C>T X 53966798 CM G A Missense p.R102C c.304C>T X 54048789 BLCA G A Missense p.R676W c.2026C>T X 54013588 COREAD G A Missense p.R901W c.2701C>T X 53970623 UCEC G A Missense p.S771L c.2312C>T X 54011586 CM G A Missense p.T179I c.536C>T X 54044120 UCEC G A Synonymous p.A38A c.114C>T X 54069156 BRCA G A Synonymous p.D645D c.1935C>T X 54014281 STAD G A Synonymous p.F123F c.369C>T X 54048724 CM G A Synonymous p.F348F c.1044C>T X 54037565 CM G A Synonymous p.F55F c.165C>T X 54069105 BRCA G A Synonymous p.I1049I c.3147C>T X 53965627 CM G A Synonymous p.I456I c.1368C>T X 54022189 BLCA G A Synonymous p.L449L c.1345C>T X 54022212 CM G A Synonymous p.N483N c.1449C>T X 54020319 ALL G A Synonymous p.R1004R c.3012C>T X 53966695 HNSC G T Missense p.L730M c.2188C>A X 54012298 LUAD G T Missense p.P350H c.1049C>A X 54037560 UCEC G T Missense p.T179N c.536C>A X 54044120 RCCC T A Missense p.M710L c.2128A>T X 54012358 SCLC T A Missense p.T952S c.2854A>T X 53966853 BRCA T C Missense p.I727V c.2179A>G X 54012307 LUSC T C Missense p.Q482R c.1445A>G X 54020323 OV T C Missense p.T614A c.1840A>G X 54014376 OV T C SpliceAcceptorSNV . c.563-2A>G X 54043171 RCCC T C Synonymous p.R125R c.375A>G X 54048718 RCCC T G Missense p.K891T c.2672A>C X 53970652 COREAD