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 11 107917046 107917046 + Missense_Mutation SNP C C A TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr11:107917046C>A c.184C>A c.(184-186)Cat>Aat p.H62N BLCA 11 107917093 107917093 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr11:107917093G>A c.231G>A c.(229-231)caG>caA p.Q77Q BLCA 11 107925384 107925384 + Silent SNP T T C TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr11:107925384T>C c.564T>C c.(562-564)tgT>tgC p.C188C BLCA 11 107959270 107959270 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr11:107959270C>G c.1195C>G c.(1195-1197)Cag>Gag p.Q399E BLCA 11 107965541 107965541 + Missense_Mutation SNP G G A TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr11:107965541G>A c.1570G>A c.(1570-1572)Gat>Aat p.D524N BLCA 11 107968457 107968457 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr11:107968457C>T c.2000C>T c.(1999-2001)tCa>tTa p.S667L BLCA 11 107974953 107974953 + Missense_Mutation SNP A A G TCGA-BT-A2LA-01A-11D-A18F-08 TCGA-BT-A2LA-11A-11D-A18F-08 g.chr11:107974953A>G c.2185A>G c.(2185-2187)Att>Gtt p.I729V BRCA 11 107925435 107925435 + Silent SNP A A G TCGA-BH-A18N-01A-11D-A12B-09 TCGA-BH-A18N-11A-43D-A12B-09 g.chr11:107925435A>G c.615A>G c.(613-615)gcA>gcG p.A205A BRCA 11 107944202 107944202 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr11:107944202G>A c.1091G>A c.(1090-1092)cGa>cAa p.R364Q BRCA 11 107959361 107959361 + Frame_Shift_Del DEL A A - TCGA-OL-A66J-01A-11D-A29N-09 TCGA-OL-A66J-10A-01D-A29N-09 g.chr11:107959361delA c.1286delA c.(1285-1287)gagfs p.E429fs BRCA 11 107965237 107965237 + Silent SNP A A G TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr11:107965237A>G c.1563A>G c.(1561-1563)ttA>ttG p.L521L BRCA 11 107965573 107965573 + Silent SNP C C T TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 g.chr11:107965573C>T c.1602C>T c.(1600-1602)ggC>ggT p.G534G BRCA 11 107965648 107965648 + Silent SNP A A G TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 g.chr11:107965648A>G c.1677A>G c.(1675-1677)gaA>gaG p.E559E BRCA 11 107968417 107968417 + Missense_Mutation SNP G G A TCGA-AN-A0AT-01A-11D-A045-09 TCGA-AN-A0AT-10A-01W-A055-09 g.chr11:107968417G>A c.1960G>A c.(1960-1962)Gtc>Atc p.V654I BRCA 11 107975024 107975024 + Missense_Mutation SNP G G C TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 g.chr11:107975024G>C c.2256G>C c.(2254-2256)atG>atC p.M752I CESC 11 107943062 107943062 + Nonsense_Mutation SNP T T G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 g.chr11:107943062T>G c.878T>G c.(877-879)tTa>tGa p.L293* CESC 11 107965208 107965208 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 g.chr11:107965208G>A c.1534G>A c.(1534-1536)Gaa>Aaa p.E512K CESC 11 107968424 107968424 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr11:107968424C>T c.1967C>T c.(1966-1968)tCa>tTa p.S656L COAD 11 107917000 107917000 + Silent SNP T T C TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr11:107917000T>C c.138T>C c.(136-138)gaT>gaC p.D46D COAD 11 107920751 107920751 + Silent SNP C C T TCGA-AA-3979-01A-01W-0995-10 TCGA-AA-3979-10A-01W-0999-10 g.chr11:107920751C>T c.369C>T c.(367-369)ggC>ggT p.G123G COAD 11 107923519 107923519 + Nonsense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr11:107923519G>T c.544G>T c.(544-546)Gaa>Taa p.E182* COAD 11 107925382 107925382 + Missense_Mutation SNP T T C TCGA-A6-6651-01A-21D-1835-10 TCGA-A6-6651-10A-01D-1835-10 g.chr11:107925382T>C c.562T>C c.(562-564)Tgt>Cgt p.C188R COAD 11 107925384 107925384 + Silent SNP T T C TCGA-AA-3502-01A-01D-1408-10 TCGA-AA-3502-11A-01D-1408-10 g.chr11:107925384T>C c.564T>C c.(562-564)tgT>tgC p.C188C COAD 11 107925384 107925384 + Silent SNP T T C TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr11:107925384T>C c.564T>C c.(562-564)tgT>tgC p.C188C COAD 11 107925384 107925384 + Silent SNP T T C TCGA-AZ-6607-01A-11D-1835-10 TCGA-AZ-6607-11A-01D-1835-10 g.chr11:107925384T>C c.564T>C c.(562-564)tgT>tgC p.C188C COAD 11 107925384 107925384 + Silent SNP T T C TCGA-D5-6922-01A-11D-1924-10 TCGA-D5-6922-10A-01D-1924-10 g.chr11:107925384T>C c.564T>C c.(562-564)tgT>tgC p.C188C COAD 11 107925384 107925384 + Silent SNP T T C TCGA-DM-A1D0-01A-11D-A152-10 TCGA-DM-A1D0-10A-01D-A152-10 g.chr11:107925384T>C c.564T>C c.(562-564)tgT>tgC p.C188C COAD 11 107925480 107925480 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr11:107925480G>A c.660G>A c.(658-660)tcG>tcA p.S220S COAD 11 107925499 107925499 + Missense_Mutation SNP G G C TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr11:107925499G>C c.679G>C c.(679-681)Gta>Cta p.V227L COAD 11 107925674 107925674 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr11:107925674G>A c.772G>A c.(772-774)Gtt>Att p.V258I COAD 11 107959388 107959388 + Splice_Site SNP T T C TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr11:107959388T>C c.e12+2 COAD 11 107969165 107969165 + Missense_Mutation SNP T T A TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr11:107969165T>A c.2057T>A c.(2056-2058)aTc>aAc p.I686N COAD 11 107974989 107974989 + Missense_Mutation SNP A A G TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr11:107974989A>G c.2221A>G c.(2221-2223)Att>Gtt p.I741V COADREAD 11 107917000 107917000 + Silent SNP T T C TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr11:107917000T>C c.138T>C c.(136-138)gaT>gaC p.D46D COADREAD 11 107920751 107920751 + Silent SNP C C T TCGA-AA-3979-01A-01W-0995-10 TCGA-AA-3979-10A-01W-0999-10 g.chr11:107920751C>T c.369C>T c.(367-369)ggC>ggT p.G123G COADREAD 11 107923519 107923519 + Nonsense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr11:107923519G>T c.544G>T c.(544-546)Gaa>Taa p.E182* COADREAD 11 107925382 107925382 + Missense_Mutation SNP T T C TCGA-A6-6651-01A-21D-1835-10 TCGA-A6-6651-10A-01D-1835-10 g.chr11:107925382T>C c.562T>C c.(562-564)Tgt>Cgt p.C188R COADREAD 11 107925384 107925384 + Silent SNP T T C TCGA-AA-3502-01A-01D-1408-10 TCGA-AA-3502-11A-01D-1408-10 g.chr11:107925384T>C c.564T>C c.(562-564)tgT>tgC p.C188C COADREAD 11 107925384 107925384 + Silent SNP T T C TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr11:107925384T>C c.564T>C c.(562-564)tgT>tgC p.C188C COADREAD 11 107925384 107925384 + Silent SNP T T C TCGA-AZ-6607-01A-11D-1835-10 TCGA-AZ-6607-11A-01D-1835-10 g.chr11:107925384T>C c.564T>C c.(562-564)tgT>tgC p.C188C COADREAD 11 107925384 107925384 + Silent SNP T T C TCGA-D5-6922-01A-11D-1924-10 TCGA-D5-6922-10A-01D-1924-10 g.chr11:107925384T>C c.564T>C c.(562-564)tgT>tgC p.C188C COADREAD 11 107925384 107925384 + Silent SNP T T C TCGA-DM-A1D0-01A-11D-A152-10 TCGA-DM-A1D0-10A-01D-A152-10 g.chr11:107925384T>C c.564T>C c.(562-564)tgT>tgC p.C188C COADREAD 11 107925480 107925480 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr11:107925480G>A c.660G>A c.(658-660)tcG>tcA p.S220S COADREAD 11 107925499 107925499 + Missense_Mutation SNP G G C TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr11:107925499G>C c.679G>C c.(679-681)Gta>Cta p.V227L COADREAD 11 107925641 107925641 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr11:107925641C>T c.739C>T c.(739-741)Cgt>Tgt p.R247C COADREAD 11 107925674 107925674 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr11:107925674G>A c.772G>A c.(772-774)Gtt>Att p.V258I COADREAD 11 107959388 107959388 + Splice_Site SNP T T C TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr11:107959388T>C c.e12+2 COADREAD 11 107965671 107965672 + Missense_Mutation DNP GT GT AG TCGA-AG-3726-01A-02W-0899-10 TCGA-AG-3726-10A-01W-0901-10 g.chr11:107965671_107965672GT>AG c.1700_1701GT>AG c.(1699-1701)aGT>aAG p.S567K COADREAD 11 107969165 107969165 + Missense_Mutation SNP T T A TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr11:107969165T>A c.2057T>A c.(2056-2058)aTc>aAc p.I686N COADREAD 11 107974989 107974989 + Missense_Mutation SNP A A G TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr11:107974989A>G c.2221A>G c.(2221-2223)Att>Gtt p.I741V DLBC 11 107943124 107943124 + Silent SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr11:107943124T>C c.940T>C c.(940-942)Ttg>Ctg p.L314L DLBC 11 107965639 107965639 + Silent SNP G G A TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr11:107965639G>A c.1668G>A c.(1666-1668)ccG>ccA p.P556P ESCA 11 107920757 107920758 + Frame_Shift_Ins INS - - A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 g.chr11:107920757_107920758insA c.375_376insA c.(376-378)aaafs p.K126fs ESCA 11 107966314 107966314 + Missense_Mutation SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 g.chr11:107966314G>A c.1801G>A c.(1801-1803)Gct>Act p.A601T GBMLGG 11 107944162 107944162 + Missense_Mutation SNP T T C TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 g.chr11:107944162T>C c.1051T>C c.(1051-1053)Ttt>Ctt p.F351L GBMLGG 11 107944222 107944222 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:107944222A>G c.1111A>G c.(1111-1113)Aag>Gag p.K371E GBMLGG 11 107948957 107948957 + Missense_Mutation SNP A A G TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 g.chr11:107948957A>G c.1168A>G c.(1168-1170)Aag>Gag p.K390E GBMLGG 11 107965640 107965640 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:107965640G>A c.1669G>A c.(1669-1671)Gaa>Aaa p.E557K HNSC 11 107925516 107925516 + Missense_Mutation SNP A A T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 g.chr11:107925516A>T c.696A>T c.(694-696)aaA>aaT p.K232N HNSC 11 107965182 107965182 + Missense_Mutation SNP C C A TCGA-QK-AA3J-01A-11D-A391-08 TCGA-QK-AA3J-10A-01D-A394-08 g.chr11:107965182C>A c.1508C>A c.(1507-1509)tCt>tAt p.S503Y HNSC 11 107965658 107965658 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr11:107965658delA c.1687delA c.(1687-1689)aaafs p.K564fs HNSC 11 107975080 107975080 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr11:107975080C>G c.2312C>G c.(2311-2313)tCt>tGt p.S771C KIPAN 11 107940858 107940859 + Frame_Shift_Del DEL AT AT - TCGA-A3-3313-01A-01D-0966-08 TCGA-A3-3313-11A-01D-0966-08 g.chr11:107940858_107940859delAT c.816_817delAT c.(814-819)tcatttfs p.F273fs KIRC 11 107940858 107940859 + Frame_Shift_Del DEL AT AT - TCGA-A3-3313-01A-01D-0966-08 TCGA-A3-3313-11A-01D-0966-08 g.chr11:107940858_107940859delAT c.816_817delAT c.(814-819)tcatttfs p.F273fs LGG 11 107944162 107944162 + Missense_Mutation SNP T T C TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 g.chr11:107944162T>C c.1051T>C c.(1051-1053)Ttt>Ctt p.F351L LGG 11 107944222 107944222 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:107944222A>G c.1111A>G c.(1111-1113)Aag>Gag p.K371E LGG 11 107948957 107948957 + Missense_Mutation SNP A A G TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 g.chr11:107948957A>G c.1168A>G c.(1168-1170)Aag>Gag p.K390E LGG 11 107965640 107965640 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:107965640G>A c.1669G>A c.(1669-1671)Gaa>Aaa p.E557K LIHC 11 107920728 107920728 + Missense_Mutation SNP A A T TCGA-BW-A5NO-01A-11D-A27I-10 TCGA-BW-A5NO-10A-01D-A27I-10 g.chr11:107920728A>T c.346A>T c.(346-348)Att>Ttt p.I116F LIHC 11 107923507 107923507 + Missense_Mutation SNP A A G TCGA-DD-A73C-01A-12D-A33K-10 TCGA-DD-A73C-10A-01D-A33K-10 g.chr11:107923507A>G c.532A>G c.(532-534)Att>Gtt p.I178V LUAD 11 107904543 107904543 + Nonsense_Mutation SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 g.chr11:107904543C>T c.40C>T c.(40-42)Cag>Tag p.Q14* LUAD 11 107917073 107917073 + Missense_Mutation SNP G G C TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr11:107917073G>C c.211G>C c.(211-213)Gag>Cag p.E71Q LUAD 11 107965125 107965125 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr11:107965125G>A c.1451G>A c.(1450-1452)gGt>gAt p.G484D LUAD 11 107965677 107965677 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr11:107965677G>T c.1706G>T c.(1705-1707)aGa>aTa p.R569I LUAD 11 107969145 107969145 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr11:107969145G>A c.2037G>A c.(2035-2037)aaG>aaA p.K679K LUAD 11 107975024 107975024 + Missense_Mutation SNP G G C TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr11:107975024G>C c.2256G>C c.(2254-2256)atG>atC p.M752I LUSC 11 107920638 107920638 + Missense_Mutation SNP G G A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 g.chr11:107920638G>A c.256G>A c.(256-258)Gat>Aat p.D86N LUSC 11 107920721 107920721 + Silent SNP A A G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 g.chr11:107920721A>G c.339A>G c.(337-339)caA>caG p.Q113Q LUSC 11 107923528 107923528 + Splice_Site SNP G G A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chr11:107923528G>A c.553G>A c.(553-555)Gtt>Att p.V185I LUSC 11 107959295 107959295 + Missense_Mutation SNP T T A TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr11:107959295T>A c.1220T>A c.(1219-1221)cTg>cAg p.L407Q LUSC 11 107966404 107966404 + Missense_Mutation SNP A A T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr11:107966404A>T c.1891A>T c.(1891-1893)Agg>Tgg p.R631W OV 11 107925383 107925383 + Missense_Mutation SNP G G T TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 g.chr11:107925383G>T c.563G>T c.(562-564)tGt>tTt p.C188F PAAD 11 107923465 107923465 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:107923465C>T c.490C>T c.(490-492)Cat>Tat p.H164Y PRAD 11 107920642 107920642 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr11:107920642C>T c.260C>T c.(259-261)aCg>aTg p.T87M PRAD 11 107968473 107968473 + Silent SNP C C T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 g.chr11:107968473C>T c.2016C>T c.(2014-2016)ttC>ttT p.F672F PRAD 11 107969215 107969215 + Missense_Mutation SNP G G C TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 g.chr11:107969215G>C c.2107G>C c.(2107-2109)Gag>Cag p.E703Q READ 11 107925641 107925641 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr11:107925641C>T c.739C>T c.(739-741)Cgt>Tgt p.R247C READ 11 107965671 107965672 + Missense_Mutation DNP GT GT AG TCGA-AG-3726-01A-02W-0899-10 TCGA-AG-3726-10A-01W-0901-10 g.chr11:107965671_107965672GT>AG c.1700_1701GT>AG c.(1699-1701)aGT>aAG p.S567K SKCM 11 107917082 107917082 + Missense_Mutation SNP A A G TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr11:107917082A>G c.220A>G c.(220-222)Aag>Gag p.K74E SKCM 11 107920788 107920788 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr11:107920788C>T c.406C>T c.(406-408)Cga>Tga p.R136* SKCM 11 107920793 107920793 + Splice_Site SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 g.chr11:107920793G>A c.411G>A c.(409-411)aaG>aaA p.K137K SKCM 11 107925391 107925391 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr11:107925391C>T c.571C>T c.(571-573)Cct>Tct p.P191S SKCM 11 107959385 107959385 + Splice_Site SNP T T C TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 g.chr11:107959385T>C c.1310T>C c.(1309-1311)gTg>gCg p.V437A SKCM 11 107965175 107965176 + In_Frame_Ins INS - - AAGTATCTG TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 g.chr11:107965175_107965176insAAGTATCTG c.1501_1502insAAGTATCTG c.(1501-1503)aaa>aAAGTATCTGaa p.504_505insVSE SKCM 11 107965615 107965615 + Silent SNP T T A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 g.chr11:107965615T>A c.1644T>A c.(1642-1644)ccT>ccA p.P548P SKCM 11 107965645 107965645 + Silent SNP A A T TCGA-D3-A1Q5-06A-11D-A196-08 TCGA-D3-A1Q5-10A-01D-A198-08 g.chr11:107965645A>T c.1674A>T c.(1672-1674)gtA>gtT p.V558V SKCM 11 107966294 107966300 + Frame_Shift_Del DEL AGGTAAC AGGTAAC - TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr11:107966294_107966300delAGGTAAC c.1781_1787delAGGTAAC c.(1780-1788)gaggtaaccfs p.EVT594fs SKCM 11 107966389 107966389 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr11:107966389C>G c.1876C>G c.(1876-1878)Cct>Gct p.P626A

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 11 107917070 107917070 single base substitution C G exon_variant BLCA-CN 11 107917070 107917070 single base substitution C G intron_variant BLCA-CN 11 107917070 107917070 single base substitution C G missense_variant L25V 73C>G BLCA-CN 11 107917070 107917070 single base substitution C G missense_variant L70V 208C>G BLCA-CN 11 107925394 107925394 single base substitution G A 3_prime_UTR_variant BLCA-CN 11 107925394 107925394 single base substitution G A exon_variant BLCA-CN 11 107925394 107925394 single base substitution G A missense_variant E192K 574G>A BLCA-CN 11 107925394 107925394 single base substitution G A missense_variant E88K 262G>A BLCA-CN 11 107975001 107975001 single base substitution A T exon_variant BLCA-CN 11 107975001 107975001 single base substitution A T missense_variant M745L 2233A>T BLCA-US 11 107959270 107959270 single base substitution C G exon_variant BLCA-US 11 107959270 107959270 single base substitution C G missense_variant Q399E 1195C>G BLCA-US 11 107968457 107968457 single base substitution C T exon_variant BLCA-US 11 107968457 107968457 single base substitution C T missense_variant S667L 2000C>T BRCA-EU 11 107874813 107874813 deletion of <=200bp C - upstream_gene_variant BRCA-EU 11 107876029 107876029 single base substitution G A upstream_gene_variant BRCA-EU 11 107876834 107876834 single base substitution G A upstream_gene_variant BRCA-EU 11 107876957 107876957 deletion of <=200bp A - upstream_gene_variant BRCA-EU 11 107877127 107877127 single base substitution A T upstream_gene_variant BRCA-EU 11 107877902 107877902 single base substitution G T upstream_gene_variant BRCA-EU 11 107878057 107878057 single base substitution G A upstream_gene_variant BRCA-EU 11 107878132 107878132 single base substitution G A upstream_gene_variant BRCA-EU 11 107878793 107878793 single base substitution G A upstream_gene_variant BRCA-EU 11 107878912 107878912 single base substitution C A upstream_gene_variant BRCA-EU 11 107879529 107879529 single base substitution G C 5_prime_UTR_variant BRCA-EU 11 107879529 107879529 single base substitution G C upstream_gene_variant BRCA-EU 11 107879583 107879583 single base substitution G C 5_prime_UTR_variant BRCA-EU 11 107879583 107879583 single base substitution G C upstream_gene_variant BRCA-EU 11 107879592 107879592 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 11 107879592 107879592 single base substitution C T upstream_gene_variant BRCA-EU 11 107880536 107880536 single base substitution C G intron_variant BRCA-EU 11 107881226 107881226 single base substitution C T intron_variant BRCA-EU 11 107881597 107881597 single base substitution G T intron_variant BRCA-EU 11 107882517 107882517 single base substitution C G intron_variant BRCA-EU 11 107882798 107882798 single base substitution T C intron_variant BRCA-EU 11 107883676 107883676 single base substitution C T intron_variant BRCA-EU 11 107883874 107883874 single base substitution C A intron_variant BRCA-EU 11 107884411 107884411 single base substitution A T intron_variant BRCA-EU 11 107885767 107885767 single base substitution G T intron_variant BRCA-EU 11 107886356 107886356 single base substitution T C intron_variant BRCA-EU 11 107886642 107886642 single base substitution G T intron_variant BRCA-EU 11 107886842 107886842 single base substitution A G intron_variant BRCA-EU 11 107887374 107887374 single base substitution A G intron_variant BRCA-EU 11 107887982 107887982 single base substitution G T intron_variant BRCA-EU 11 107889411 107889411 single base substitution G A intron_variant BRCA-EU 11 107890380 107890380 single base substitution G A intron_variant BRCA-EU 11 107890439 107890439 single base substitution A G intron_variant BRCA-EU 11 107891524 107891524 deletion of <=200bp A - intron_variant BRCA-EU 11 107891698 107891698 single base substitution A G intron_variant BRCA-EU 11 107893989 107893989 deletion of <=200bp A - intron_variant BRCA-EU 11 107894772 107894772 single base substitution C G intron_variant BRCA-EU 11 107895398 107895398 single base substitution T A intron_variant BRCA-EU 11 107895509 107895509 deletion of <=200bp A - intron_variant BRCA-EU 11 107895509 107895509 single base substitution A T intron_variant BRCA-EU 11 107896325 107896325 single base substitution C T intron_variant BRCA-EU 11 107897483 107897483 single base substitution G A intron_variant BRCA-EU 11 107897867 107897867 single base substitution A G intron_variant BRCA-EU 11 107898433 107898433 single base substitution C G intron_variant BRCA-EU 11 107900196 107900196 single base substitution A G intron_variant BRCA-EU 11 107901007 107901007 single base substitution G C intron_variant BRCA-EU 11 107902543 107902543 single base substitution C A intron_variant BRCA-EU 11 107903150 107903150 single base substitution C T intron_variant BRCA-EU 11 107903511 107903511 single base substitution T A intron_variant BRCA-EU 11 107903839 107903839 single base substitution A G intron_variant BRCA-EU 11 107905149 107905149 single base substitution C T intron_variant BRCA-EU 11 107905762 107905762 single base substitution G A intron_variant BRCA-EU 11 107905798 107905798 single base substitution G C intron_variant BRCA-EU 11 107905854 107905854 single base substitution G C intron_variant BRCA-EU 11 107905855 107905855 single base substitution G T intron_variant BRCA-EU 11 107906971 107906971 single base substitution C T intron_variant BRCA-EU 11 107907151 107907151 single base substitution G C intron_variant BRCA-EU 11 107910310 107910310 single base substitution C T intron_variant BRCA-EU 11 107910422 107910422 single base substitution C T intron_variant BRCA-EU 11 107910469 107910469 deletion of <=200bp T - intron_variant BRCA-EU 11 107912223 107912223 single base substitution C T intron_variant BRCA-EU 11 107912223 107912223 single base substitution C T upstream_gene_variant BRCA-EU 11 107913588 107913588 single base substitution C G intron_variant BRCA-EU 11 107913588 107913588 single base substitution C G upstream_gene_variant BRCA-EU 11 107914792 107914792 single base substitution C G intron_variant BRCA-EU 11 107914792 107914792 single base substitution C G upstream_gene_variant BRCA-EU 11 107918474 107918474 single base substitution G T downstream_gene_variant BRCA-EU 11 107918474 107918474 single base substitution G T intron_variant BRCA-EU 11 107920268 107920268 single base substitution C T downstream_gene_variant BRCA-EU 11 107920268 107920268 single base substitution C T intron_variant BRCA-EU 11 107920758 107920758 single base substitution A G 3_prime_UTR_variant BRCA-EU 11 107920758 107920758 single base substitution A G downstream_gene_variant BRCA-EU 11 107920758 107920758 single base substitution A G exon_variant BRCA-EU 11 107920758 107920758 single base substitution A G intron_variant BRCA-EU 11 107920758 107920758 single base substitution A G missense_variant K126E 376A>G BRCA-EU 11 107922174 107922174 single base substitution G T downstream_gene_variant BRCA-EU 11 107922174 107922174 single base substitution G T intron_variant BRCA-EU 11 107922553 107922553 single base substitution T A intron_variant BRCA-EU 11 107922906 107922906 single base substitution G A intron_variant BRCA-EU 11 107925185 107925185 single base substitution T C intron_variant BRCA-EU 11 107925192 107925192 single base substitution C T intron_variant BRCA-EU 11 107927523 107927523 single base substitution G T downstream_gene_variant BRCA-EU 11 107927523 107927523 single base substitution G T intron_variant BRCA-EU 11 107928058 107928058 single base substitution A G downstream_gene_variant BRCA-EU 11 107928058 107928058 single base substitution A G intron_variant BRCA-EU 11 107928174 107928174 single base substitution C T downstream_gene_variant BRCA-EU 11 107928174 107928174 single base substitution C T intron_variant BRCA-EU 11 107928850 107928850 single base substitution C G downstream_gene_variant BRCA-EU 11 107928850 107928850 single base substitution C G intron_variant BRCA-EU 11 107928914 107928914 single base substitution C A downstream_gene_variant BRCA-EU 11 107928914 107928914 single base substitution C A intron_variant BRCA-EU 11 107931118 107931118 single base substitution G A intron_variant BRCA-EU 11 107932767 107932767 single base substitution G A intron_variant BRCA-EU 11 107935081 107935081 single base substitution T G intron_variant BRCA-EU 11 107935771 107935771 single base substitution G A intron_variant BRCA-EU 11 107936247 107936247 single base substitution C G intron_variant BRCA-EU 11 107937027 107937027 single base substitution C T intron_variant BRCA-EU 11 107937037 107937037 single base substitution C T intron_variant BRCA-EU 11 107937744 107937744 single base substitution C T intron_variant BRCA-EU 11 107938888 107938888 single base substitution G T intron_variant BRCA-EU 11 107938891 107938891 single base substitution C T intron_variant BRCA-EU 11 107941166 107941166 insertion of <=200bp - T intron_variant BRCA-EU 11 107941166 107941166 insertion of <=200bp - T upstream_gene_variant BRCA-EU 11 107943195 107943195 deletion of <=200bp T - splice_region_variant BRCA-EU 11 107943195 107943195 deletion of <=200bp T - upstream_gene_variant BRCA-EU 11 107943824 107943824 single base substitution G A intron_variant BRCA-EU 11 107943824 107943824 single base substitution G A upstream_gene_variant BRCA-EU 11 107949777 107949777 single base substitution T G downstream_gene_variant BRCA-EU 11 107949777 107949777 single base substitution T G intron_variant BRCA-EU 11 107950140 107950140 deletion of <=200bp T - intron_variant BRCA-EU 11 107950546 107950546 single base substitution G C intron_variant BRCA-EU 11 107951337 107951337 single base substitution G A intron_variant BRCA-EU 11 107951405 107951405 single base substitution G A intron_variant BRCA-EU 11 107952340 107952340 single base substitution G A intron_variant BRCA-EU 11 107952549 107952549 single base substitution A G intron_variant BRCA-EU 11 107953179 107953179 insertion of <=200bp - T intron_variant BRCA-EU 11 107956815 107956825 deletion of <=200bp AGAGCATAGAA - intron_variant BRCA-EU 11 107958738 107958738 single base substitution A G intron_variant BRCA-EU 11 107958950 107958950 deletion of <=200bp A - intron_variant BRCA-EU 11 107963798 107963798 single base substitution C T intron_variant BRCA-EU 11 107963992 107963992 single base substitution A G intron_variant BRCA-EU 11 107963998 107963998 single base substitution G C intron_variant BRCA-EU 11 107964417 107964417 single base substitution T C intron_variant BRCA-EU 11 107966731 107966731 single base substitution G A intron_variant BRCA-EU 11 107967625 107967625 single base substitution C G intron_variant BRCA-EU 11 107973160 107973160 single base substitution C G intron_variant BRCA-EU 11 107973586 107973586 single base substitution G C intron_variant BRCA-EU 11 107974181 107974181 single base substitution A G intron_variant BRCA-EU 11 107974632 107974632 single base substitution C T intron_variant BRCA-EU 11 107975428 107975428 single base substitution G T 3_prime_UTR_variant BRCA-EU 11 107976643 107976643 single base substitution G A 3_prime_UTR_variant BRCA-EU 11 107976643 107976643 single base substitution G A intron_variant BRCA-EU 11 107977858 107977858 single base substitution C T 3_prime_UTR_variant BRCA-EU 11 107977858 107977858 single base substitution C T downstream_gene_variant BRCA-EU 11 107978095 107978095 single base substitution G A 3_prime_UTR_variant BRCA-EU 11 107978095 107978095 single base substitution G A downstream_gene_variant BRCA-EU 11 107979290 107979290 single base substitution C T downstream_gene_variant BRCA-EU 11 107979312 107979312 single base substitution C T downstream_gene_variant BRCA-EU 11 107981241 107981241 single base substitution G A downstream_gene_variant BRCA-EU 11 107981422 107981422 single base substitution G A downstream_gene_variant BRCA-EU 11 107981821 107981821 single base substitution C A downstream_gene_variant BRCA-FR 11 107891698 107891698 single base substitution A G intron_variant BRCA-FR 11 107894772 107894772 single base substitution C G intron_variant BRCA-FR 11 107898433 107898433 single base substitution C G intron_variant BRCA-FR 11 107901007 107901007 single base substitution G C intron_variant BRCA-FR 11 107902543 107902543 single base substitution C A intron_variant BRCA-FR 11 107903150 107903150 single base substitution C T intron_variant BRCA-FR 11 107906971 107906971 single base substitution C T intron_variant BRCA-FR 11 107913326 107913326 single base substitution C G intron_variant BRCA-FR 11 107913326 107913326 single base substitution C G upstream_gene_variant BRCA-FR 11 107922906 107922906 single base substitution G A intron_variant BRCA-FR 11 107930107 107930107 single base substitution A G downstream_gene_variant BRCA-FR 11 107930107 107930107 single base substitution A G intron_variant BRCA-FR 11 107931118 107931118 single base substitution G A intron_variant BRCA-FR 11 107932293 107932293 single base substitution C T intron_variant BRCA-FR 11 107936247 107936247 single base substitution C G intron_variant BRCA-FR 11 107937027 107937027 single base substitution C T intron_variant BRCA-FR 11 107937744 107937744 single base substitution C T intron_variant BRCA-FR 11 107958188 107958188 single base substitution G T intron_variant BRCA-UK 11 107876371 107876371 single base substitution C A upstream_gene_variant BRCA-UK 11 107902804 107902804 single base substitution G A intron_variant BRCA-UK 11 107935771 107935771 single base substitution G A intron_variant BRCA-UK 11 107963239 107963239 single base substitution G A intron_variant BRCA-UK 11 107975428 107975428 single base substitution G T 3_prime_UTR_variant BRCA-US 11 107925435 107925435 single base substitution A G 3_prime_UTR_variant BRCA-US 11 107925435 107925435 single base substitution A G exon_variant BRCA-US 11 107925435 107925435 single base substitution A G synonymous_variant A101A 303A>G BRCA-US 11 107925435 107925435 single base substitution A G synonymous_variant A205A 615A>G BRCA-US 11 107944202 107944202 single base substitution G A exon_variant BRCA-US 11 107944202 107944202 single base substitution G A missense_variant R364Q 1091G>A BRCA-US 11 107959361 107959361 deletion of <=200bp A - exon_variant BRCA-US 11 107959361 107959361 deletion of <=200bp A - frameshift_variant E429 BRCA-US 11 107965237 107965237 single base substitution A G exon_variant BRCA-US 11 107965237 107965237 single base substitution A G synonymous_variant L521L 1563A>G BRCA-US 11 107965573 107965573 single base substitution C T exon_variant BRCA-US 11 107965573 107965573 single base substitution C T synonymous_variant G534G 1602C>T BRCA-US 11 107965648 107965648 single base substitution A G exon_variant BRCA-US 11 107965648 107965648 single base substitution A G synonymous_variant E559E 1677A>G BRCA-US 11 107968417 107968417 single base substitution G A exon_variant BRCA-US 11 107968417 107968417 single base substitution G A missense_variant V654I 1960G>A BRCA-US 11 107975024 107975024 single base substitution G C exon_variant BRCA-US 11 107975024 107975024 single base substitution G C missense_variant M752I 2256G>C BTCA-JP 11 107879973 107879973 single base substitution G A 5_prime_UTR_variant BTCA-JP 11 107879973 107879973 single base substitution G A exon_variant BTCA-JP 11 107879973 107879973 single base substitution G A upstream_gene_variant BTCA-JP 11 107917065 107917065 single base substitution A T exon_variant BTCA-JP 11 107917065 107917065 single base substitution A T intron_variant BTCA-JP 11 107917065 107917065 single base substitution A T missense_variant D23V 68A>T BTCA-JP 11 107917065 107917065 single base substitution A T missense_variant D68V 203A>T BTCA-JP 11 107940724 107940724 deletion of <=200bp T - intron_variant BTCA-JP 11 107940724 107940724 deletion of <=200bp T - upstream_gene_variant BTCA-JP 11 107943286 107943286 single base substitution G A intron_variant BTCA-JP 11 107943286 107943286 single base substitution G A upstream_gene_variant BTCA-JP 11 107960156 107960156 single base substitution G A intron_variant BTCA-JP 11 107960288 107960288 single base substitution C T exon_variant BTCA-JP 11 107960288 107960288 single base substitution C T missense_variant R461C 1381C>T BTCA-JP 11 107969318 107969318 single base substitution T A intron_variant BTCA-JP 11 107969321 107969321 single base substitution A T intron_variant CESC-US 11 107943062 107943062 single base substitution T G exon_variant CESC-US 11 107943062 107943062 single base substitution T G stop_gained L293* 878T>G CESC-US 11 107943062 107943062 single base substitution T G upstream_gene_variant CESC-US 11 107965208 107965208 single base substitution G A exon_variant CESC-US 11 107965208 107965208 single base substitution G A missense_variant E512K 1534G>A CESC-US 11 107968424 107968424 single base substitution C T exon_variant CESC-US 11 107968424 107968424 single base substitution C T missense_variant S656L 1967C>T CLLE-ES 11 107885522 107885523 deletion of <=200bp AT - intron_variant CLLE-ES 11 107929876 107929876 single base substitution A G downstream_gene_variant CLLE-ES 11 107929876 107929876 single base substitution A G intron_variant CLLE-ES 11 107956004 107956004 single base substitution A G intron_variant CLLE-ES 11 107966491 107966491 single base substitution A G intron_variant COAD-US 11 107880080 107880080 single base substitution G A exon_variant COAD-US 11 107880080 107880080 single base substitution G A synonymous_variant A2A 6G>A COAD-US 11 107959388 107959388 single base substitution T C splice_donor_variant COAD-US 11 107974989 107974989 single base substitution A G exon_variant COAD-US 11 107974989 107974989 single base substitution A G missense_variant I741V 2221A>G COCA-CN 11 107877193 107877193 single base substitution T A upstream_gene_variant COCA-CN 11 107916953 107916953 single base substitution C A intron_variant COCA-CN 11 107916953 107916953 single base substitution C A upstream_gene_variant COCA-CN 11 107933585 107933585 single base substitution T C intron_variant COCA-CN 11 107940902 107940902 single base substitution G A exon_variant COCA-CN 11 107940902 107940902 single base substitution G A missense_variant R287K 860G>A COCA-CN 11 107940902 107940902 single base substitution G A upstream_gene_variant COCA-CN 11 107959978 107959978 single base substitution C G intron_variant COCA-CN 11 107968403 107968403 single base substitution T A exon_variant COCA-CN 11 107968403 107968403 single base substitution T A stop_gained L649* 1946T>A EOPC-DE 11 107924851 107924851 single base substitution G T intron_variant EOPC-DE 11 107960102 107960102 single base substitution A G intron_variant ESAD-UK 11 107876614 107876614 single base substitution C G upstream_gene_variant ESAD-UK 11 107876973 107876973 single base substitution A T upstream_gene_variant ESAD-UK 11 107877538 107877538 single base substitution G A upstream_gene_variant ESAD-UK 11 107878444 107878444 single base substitution C T upstream_gene_variant ESAD-UK 11 107879939 107879939 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 11 107879939 107879939 single base substitution C T exon_variant ESAD-UK 11 107879939 107879939 single base substitution C T upstream_gene_variant ESAD-UK 11 107881560 107881560 single base substitution C G intron_variant ESAD-UK 11 107882618 107882618 single base substitution C T intron_variant ESAD-UK 11 107882959 107882959 single base substitution A G intron_variant ESAD-UK 11 107886959 107886959 insertion of <=200bp - TTCTC intron_variant ESAD-UK 11 107887523 107887523 single base substitution C A intron_variant ESAD-UK 11 107889328 107889328 single base substitution G A intron_variant ESAD-UK 11 107890149 107890149 single base substitution C T intron_variant ESAD-UK 11 107891302 107891302 single base substitution C A intron_variant ESAD-UK 11 107892231 107892231 single base substitution G A intron_variant ESAD-UK 11 107893989 107893989 insertion of <=200bp - A intron_variant ESAD-UK 11 107895531 107895531 single base substitution T C intron_variant ESAD-UK 11 107897354 107897354 single base substitution C G intron_variant ESAD-UK 11 107898747 107898747 single base substitution G A intron_variant ESAD-UK 11 107899229 107899229 single base substitution C G intron_variant ESAD-UK 11 107901436 107901436 single base substitution G A intron_variant ESAD-UK 11 107901965 107901965 single base substitution G A intron_variant ESAD-UK 11 107905001 107905001 single base substitution C T intron_variant ESAD-UK 11 107905187 107905187 single base substitution A G intron_variant ESAD-UK 11 107906200 107906200 single base substitution C T intron_variant ESAD-UK 11 107907819 107907819 single base substitution G A intron_variant ESAD-UK 11 107908424 107908424 single base substitution C T intron_variant ESAD-UK 11 107908501 107908501 single base substitution C T intron_variant ESAD-UK 11 107910879 107910879 single base substitution T A intron_variant ESAD-UK 11 107913900 107913900 single base substitution A T intron_variant ESAD-UK 11 107913900 107913900 single base substitution A T upstream_gene_variant ESAD-UK 11 107914878 107914878 single base substitution G T intron_variant ESAD-UK 11 107914878 107914878 single base substitution G T upstream_gene_variant ESAD-UK 11 107916649 107916649 single base substitution T A intron_variant ESAD-UK 11 107916649 107916649 single base substitution T A upstream_gene_variant ESAD-UK 11 107917019 107917019 single base substitution T A exon_variant ESAD-UK 11 107917019 107917019 single base substitution T A intron_variant ESAD-UK 11 107917019 107917019 single base substitution T A missense_variant W53R 157T>A ESAD-UK 11 107917019 107917019 single base substitution T A missense_variant W8R 22T>A ESAD-UK 11 107920258 107920258 single base substitution T C downstream_gene_variant ESAD-UK 11 107920258 107920258 single base substitution T C intron_variant ESAD-UK 11 107921902 107921902 single base substitution G A downstream_gene_variant ESAD-UK 11 107921902 107921902 single base substitution G A intron_variant ESAD-UK 11 107924107 107924107 single base substitution A T intron_variant ESAD-UK 11 107925457 107925459 deletion of <=200bp TTT - 3_prime_UTR_variant ESAD-UK 11 107925457 107925459 deletion of <=200bp TTT - exon_variant ESAD-UK 11 107925457 107925459 deletion of <=200bp TTT - inframe_deletion F109 ESAD-UK 11 107925457 107925459 deletion of <=200bp TTT - inframe_deletion F213 ESAD-UK 11 107926864 107926864 single base substitution T A downstream_gene_variant ESAD-UK 11 107926864 107926864 single base substitution T A intron_variant ESAD-UK 11 107926865 107926865 single base substitution T A downstream_gene_variant ESAD-UK 11 107926865 107926865 single base substitution T A intron_variant ESAD-UK 11 107932167 107932167 single base substitution A G intron_variant ESAD-UK 11 107934487 107934487 single base substitution G T intron_variant ESAD-UK 11 107934962 107934962 single base substitution G A intron_variant ESAD-UK 11 107935259 107935259 single base substitution A T intron_variant ESAD-UK 11 107935273 107935273 deletion of <=200bp A - intron_variant ESAD-UK 11 107935694 107935694 single base substitution T C intron_variant ESAD-UK 11 107936378 107936378 single base substitution C T intron_variant ESAD-UK 11 107938664 107938664 single base substitution T C intron_variant ESAD-UK 11 107939412 107939412 single base substitution T C intron_variant ESAD-UK 11 107939412 107939412 single base substitution T C upstream_gene_variant ESAD-UK 11 107939458 107939458 single base substitution A G intron_variant ESAD-UK 11 107939458 107939458 single base substitution A G upstream_gene_variant ESAD-UK 11 107940157 107940157 single base substitution C G intron_variant ESAD-UK 11 107940157 107940157 single base substitution C G upstream_gene_variant ESAD-UK 11 107941109 107941109 single base substitution T G intron_variant ESAD-UK 11 107941109 107941109 single base substitution T G upstream_gene_variant ESAD-UK 11 107941556 107941556 single base substitution C A intron_variant ESAD-UK 11 107941556 107941556 single base substitution C A upstream_gene_variant ESAD-UK 11 107942358 107942358 single base substitution C T intron_variant ESAD-UK 11 107942358 107942358 single base substitution C T upstream_gene_variant ESAD-UK 11 107943554 107943554 single base substitution T C intron_variant ESAD-UK 11 107943554 107943554 single base substitution T C upstream_gene_variant ESAD-UK 11 107943797 107943797 single base substitution C T intron_variant ESAD-UK 11 107943797 107943797 single base substitution C T upstream_gene_variant ESAD-UK 11 107944107 107944107 single base substitution T A intron_variant ESAD-UK 11 107944107 107944107 single base substitution T A upstream_gene_variant ESAD-UK 11 107945263 107945263 single base substitution G T downstream_gene_variant ESAD-UK 11 107945263 107945263 single base substitution G T intron_variant ESAD-UK 11 107946012 107946012 single base substitution A T downstream_gene_variant ESAD-UK 11 107946012 107946012 single base substitution A T intron_variant ESAD-UK 11 107946145 107946145 single base substitution G T downstream_gene_variant ESAD-UK 11 107946145 107946145 single base substitution G T intron_variant ESAD-UK 11 107946948 107946948 single base substitution A C downstream_gene_variant ESAD-UK 11 107946948 107946948 single base substitution A C intron_variant ESAD-UK 11 107948344 107948344 single base substitution G A downstream_gene_variant ESAD-UK 11 107948344 107948344 single base substitution G A intron_variant ESAD-UK 11 107949039 107949039 single base substitution C A downstream_gene_variant ESAD-UK 11 107949039 107949039 single base substitution C A intron_variant ESAD-UK 11 107950165 107950165 single base substitution T G intron_variant ESAD-UK 11 107951238 107951238 single base substitution T A intron_variant ESAD-UK 11 107951677 107951677 single base substitution A C intron_variant ESAD-UK 11 107952092 107952092 single base substitution T A intron_variant ESAD-UK 11 107952557 107952557 single base substitution C A intron_variant ESAD-UK 11 107954209 107954209 single base substitution G T intron_variant ESAD-UK 11 107957014 107957014 single base substitution A T intron_variant ESAD-UK 11 107958332 107958332 single base substitution T A intron_variant ESAD-UK 11 107960934 107960934 single base substitution G T intron_variant ESAD-UK 11 107962022 107962022 single base substitution C T intron_variant ESAD-UK 11 107962215 107962215 single base substitution G C intron_variant ESAD-UK 11 107965791 107965791 single base substitution A T intron_variant ESAD-UK 11 107969047 107969047 deletion of <=200bp A - intron_variant ESAD-UK 11 107973982 107973982 single base substitution T G intron_variant ESAD-UK 11 107974697 107974697 single base substitution C T intron_variant ESAD-UK 11 107976685 107976685 single base substitution C G 3_prime_UTR_variant ESAD-UK 11 107976685 107976685 single base substitution C G intron_variant ESAD-UK 11 107976947 107976947 single base substitution G A 3_prime_UTR_variant ESAD-UK 11 107977012 107977012 single base substitution T A 3_prime_UTR_variant ESAD-UK 11 107978526 107978526 single base substitution A G downstream_gene_variant ESAD-UK 11 107978814 107978814 single base substitution C A downstream_gene_variant ESAD-UK 11 107980078 107980078 single base substitution C T downstream_gene_variant ESAD-UK 11 107983268 107983268 single base substitution C G downstream_gene_variant ESCA-CN 11 107920625 107920625 single base substitution G C downstream_gene_variant ESCA-CN 11 107920625 107920625 single base substitution G C exon_variant ESCA-CN 11 107920625 107920625 single base substitution G C intron_variant ESCA-CN 11 107920625 107920625 single base substitution G C synonymous_variant L81L 243G>C ESCA-CN 11 107944353 107944353 single base substitution C T intron_variant KIRC-US 11 107974931 107974931 single base substitution A G exon_variant KIRC-US 11 107974931 107974931 single base substitution A G synonymous_variant Q721Q 2163A>G LAML-KR 11 107904467 107904467 single base substitution A G intron_variant LAML-KR 11 107951887 107951887 single base substitution T C intron_variant LAML-KR 11 107951888 107951888 single base substitution G A intron_variant LAML-KR 11 107971021 107971021 single base substitution G A intron_variant LICA-CN 11 107920717 107920717 single base substitution G T 3_prime_UTR_variant LICA-CN 11 107920717 107920717 single base substitution G T downstream_gene_variant LICA-CN 11 107920717 107920717 single base substitution G T exon_variant LICA-CN 11 107920717 107920717 single base substitution G T intron_variant LICA-CN 11 107920717 107920717 single base substitution G T missense_variant C112F 335G>T LICA-FR 11 107878454 107878454 single base substitution T C upstream_gene_variant LICA-FR 11 107889231 107889231 insertion of <=200bp - A intron_variant LICA-FR 11 107899379 107899379 single base substitution A G intron_variant LICA-FR 11 107904574 107904574 single base substitution C G exon_variant LICA-FR 11 107904574 107904574 single base substitution C G missense_variant P24R 71C>G LICA-FR 11 107924773 107924773 single base substitution A G intron_variant LICA-FR 11 107928578 107928578 single base substitution T A downstream_gene_variant LICA-FR 11 107928578 107928578 single base substitution T A intron_variant LICA-FR 11 107931821 107931821 single base substitution A G intron_variant LICA-FR 11 107943181 107943181 single base substitution A G exon_variant LICA-FR 11 107943181 107943181 single base substitution A G missense_variant I333V 997A>G LICA-FR 11 107943181 107943181 single base substitution A G upstream_gene_variant LICA-FR 11 107944436 107944436 single base substitution A C intron_variant LICA-FR 11 107962423 107962423 insertion of <=200bp - CACA intron_variant LICA-FR 11 107978519 107978519 single base substitution C G downstream_gene_variant LICA-FR 11 107979153 107979153 single base substitution T A downstream_gene_variant LICA-FR 11 107979181 107979181 single base substitution A G downstream_gene_variant LIHC-US 11 107920728 107920728 single base substitution A T 3_prime_UTR_variant LIHC-US 11 107920728 107920728 single base substitution A T downstream_gene_variant LIHC-US 11 107920728 107920728 single base substitution A T exon_variant LIHC-US 11 107920728 107920728 single base substitution A T intron_variant LIHC-US 11 107920728 107920728 single base substitution A T missense_variant I116F 346A>T LIHC-US 11 107923507 107923507 single base substitution A G 3_prime_UTR_variant LIHC-US 11 107923507 107923507 single base substitution A G exon_variant LIHC-US 11 107923507 107923507 single base substitution A G missense_variant I178V 532A>G LIHC-US 11 107923507 107923507 single base substitution A G missense_variant I74V 220A>G LINC-JP 11 107876524 107876524 single base substitution A G upstream_gene_variant LINC-JP 11 107885516 107885516 single base substitution A G intron_variant LINC-JP 11 107888469 107888469 single base substitution G A intron_variant LINC-JP 11 107892716 107892716 single base substitution A G intron_variant LINC-JP 11 107905009 107905009 single base substitution A T intron_variant LINC-JP 11 107908821 107908821 single base substitution G T intron_variant LINC-JP 11 107917226 107917226 single base substitution A G downstream_gene_variant LINC-JP 11 107917226 107917226 single base substitution A G intron_variant LINC-JP 11 107918119 107918119 single base substitution A G downstream_gene_variant LINC-JP 11 107918119 107918119 single base substitution A G intron_variant LINC-JP 11 107921252 107921252 single base substitution C A downstream_gene_variant LINC-JP 11 107921252 107921252 single base substitution C A intron_variant LINC-JP 11 107923396 107923396 single base substitution G A 3_prime_UTR_variant LINC-JP 11 107923396 107923396 single base substitution G A exon_variant LINC-JP 11 107923396 107923396 single base substitution G A missense_variant D141N 421G>A LINC-JP 11 107923396 107923396 single base substitution G A missense_variant D37N 109G>A LINC-JP 11 107944245 107944245 deletion of <=200bp A - intron_variant LINC-JP 11 107946727 107946727 single base substitution A G downstream_gene_variant LINC-JP 11 107946727 107946727 single base substitution A G intron_variant LINC-JP 11 107947778 107947778 single base substitution A G downstream_gene_variant LINC-JP 11 107947778 107947778 single base substitution A G intron_variant LINC-JP 11 107965207 107965207 single base substitution G C exon_variant LINC-JP 11 107965207 107965207 single base substitution G C missense_variant K511N 1533G>C LINC-JP 11 107966287 107966287 single base substitution G T exon_variant LINC-JP 11 107966287 107966287 single base substitution G T missense_variant D592Y 1774G>T LINC-JP 11 107967074 107967074 single base substitution C A intron_variant LINC-JP 11 107967216 107967216 single base substitution A T intron_variant LINC-JP 11 107969164 107969164 single base substitution A G exon_variant LINC-JP 11 107969164 107969164 single base substitution A G missense_variant I686V 2056A>G LINC-JP 11 107975064 107975064 single base substitution A C exon_variant LINC-JP 11 107975064 107975064 single base substitution A C missense_variant I766L 2296A>C LIRI-JP 11 107874644 107874644 single base substitution C T upstream_gene_variant LIRI-JP 11 107876904 107876904 single base substitution G C upstream_gene_variant LIRI-JP 11 107876907 107876907 single base substitution C T upstream_gene_variant LIRI-JP 11 107877683 107877683 single base substitution T C upstream_gene_variant LIRI-JP 11 107881721 107881721 single base substitution A T intron_variant LIRI-JP 11 107882773 107882773 single base substitution A T intron_variant LIRI-JP 11 107885516 107885516 single base substitution A G intron_variant LIRI-JP 11 107889029 107889029 single base substitution A G intron_variant LIRI-JP 11 107892534 107892534 single base substitution G T intron_variant LIRI-JP 11 107892908 107892908 single base substitution A G intron_variant LIRI-JP 11 107893836 107893836 single base substitution G A intron_variant LIRI-JP 11 107894795 107894795 single base substitution A G intron_variant LIRI-JP 11 107894901 107894901 single base substitution G C intron_variant LIRI-JP 11 107895537 107895537 deletion of <=200bp G - intron_variant LIRI-JP 11 107896959 107896959 single base substitution C T intron_variant LIRI-JP 11 107899121 107899121 single base substitution A T intron_variant LIRI-JP 11 107901222 107901222 single base substitution G T intron_variant LIRI-JP 11 107901223 107901223 single base substitution C A intron_variant LIRI-JP 11 107904594 107904594 single base substitution C T exon_variant LIRI-JP 11 107904594 107904594 single base substitution C T missense_variant R31C 91C>T LIRI-JP 11 107908424 107908424 single base substitution C G intron_variant LIRI-JP 11 107909110 107909110 single base substitution A G intron_variant LIRI-JP 11 107909718 107909718 single base substitution A G intron_variant LIRI-JP 11 107909792 107909792 single base substitution G A intron_variant LIRI-JP 11 107911659 107911659 deletion of <=200bp C - intron_variant LIRI-JP 11 107913173 107913173 single base substitution A C intron_variant LIRI-JP 11 107913173 107913173 single base substitution A C upstream_gene_variant LIRI-JP 11 107917483 107917483 single base substitution A G downstream_gene_variant LIRI-JP 11 107917483 107917483 single base substitution A G intron_variant LIRI-JP 11 107920045 107920045 single base substitution G A downstream_gene_variant LIRI-JP 11 107920045 107920045 single base substitution G A intron_variant LIRI-JP 11 107920726 107920726 single base substitution A G 3_prime_UTR_variant LIRI-JP 11 107920726 107920726 single base substitution A G downstream_gene_variant LIRI-JP 11 107920726 107920726 single base substitution A G exon_variant LIRI-JP 11 107920726 107920726 single base substitution A G intron_variant LIRI-JP 11 107920726 107920726 single base substitution A G missense_variant E115G 344A>G LIRI-JP 11 107921158 107921158 single base substitution C T downstream_gene_variant LIRI-JP 11 107921158 107921158 single base substitution C T intron_variant LIRI-JP 11 107921419 107921419 single base substitution A G downstream_gene_variant LIRI-JP 11 107921419 107921419 single base substitution A G intron_variant LIRI-JP 11 107924312 107924312 single base substitution C G intron_variant LIRI-JP 11 107926218 107926218 single base substitution G T downstream_gene_variant LIRI-JP 11 107926218 107926218 single base substitution G T intron_variant LIRI-JP 11 107927729 107927729 single base substitution G A downstream_gene_variant LIRI-JP 11 107927729 107927729 single base substitution G A intron_variant LIRI-JP 11 107928166 107928166 single base substitution A T downstream_gene_variant LIRI-JP 11 107928166 107928166 single base substitution A T intron_variant LIRI-JP 11 107928279 107928279 single base substitution T C downstream_gene_variant LIRI-JP 11 107928279 107928279 single base substitution T C intron_variant LIRI-JP 11 107929879 107929879 single base substitution G T downstream_gene_variant LIRI-JP 11 107929879 107929879 single base substitution G T intron_variant LIRI-JP 11 107929881 107929881 single base substitution A T downstream_gene_variant LIRI-JP 11 107929881 107929881 single base substitution A T intron_variant LIRI-JP 11 107930576 107930576 single base substitution G A downstream_gene_variant LIRI-JP 11 107930576 107930576 single base substitution G A intron_variant LIRI-JP 11 107931835 107931835 single base substitution G T intron_variant LIRI-JP 11 107933624 107933624 single base substitution G A intron_variant LIRI-JP 11 107934009 107934009 single base substitution A G intron_variant LIRI-JP 11 107934202 107934202 single base substitution A G intron_variant LIRI-JP 11 107940296 107940296 single base substitution A G intron_variant LIRI-JP 11 107940296 107940296 single base substitution A G upstream_gene_variant LIRI-JP 11 107940605 107940605 single base substitution A G intron_variant LIRI-JP 11 107940605 107940605 single base substitution A G upstream_gene_variant LIRI-JP 11 107941182 107941182 single base substitution A G intron_variant LIRI-JP 11 107941182 107941182 single base substitution A G upstream_gene_variant LIRI-JP 11 107941278 107941278 single base substitution T C intron_variant LIRI-JP 11 107941278 107941278 single base substitution T C upstream_gene_variant LIRI-JP 11 107941406 107941407 deletion of <=200bp TA - intron_variant LIRI-JP 11 107941406 107941407 deletion of <=200bp TA - upstream_gene_variant LIRI-JP 11 107941669 107941669 insertion of <=200bp - TG intron_variant LIRI-JP 11 107941669 107941669 insertion of <=200bp - TG upstream_gene_variant LIRI-JP 11 107943084 107943084 single base substitution G A exon_variant LIRI-JP 11 107943084 107943084 single base substitution G A missense_variant M300I 900G>A LIRI-JP 11 107943084 107943084 single base substitution G A upstream_gene_variant LIRI-JP 11 107946526 107946526 single base substitution C T downstream_gene_variant LIRI-JP 11 107946526 107946526 single base substitution C T intron_variant LIRI-JP 11 107947357 107947357 single base substitution G A downstream_gene_variant LIRI-JP 11 107947357 107947357 single base substitution G A intron_variant LIRI-JP 11 107947358 107947358 single base substitution G T downstream_gene_variant LIRI-JP 11 107947358 107947358 single base substitution G T intron_variant LIRI-JP 11 107947517 107947517 single base substitution T G downstream_gene_variant LIRI-JP 11 107947517 107947517 single base substitution T G intron_variant LIRI-JP 11 107951526 107951526 single base substitution T G intron_variant LIRI-JP 11 107954015 107954015 single base substitution A G intron_variant LIRI-JP 11 107955106 107955106 single base substitution G C intron_variant LIRI-JP 11 107956144 107956144 single base substitution G C intron_variant LIRI-JP 11 107956549 107956549 single base substitution G C intron_variant LIRI-JP 11 107956550 107956550 single base substitution G T intron_variant LIRI-JP 11 107961575 107961575 single base substitution A G intron_variant LIRI-JP 11 107963662 107963662 single base substitution G A intron_variant LIRI-JP 11 107964488 107964488 single base substitution G A intron_variant LIRI-JP 11 107964983 107964983 single base substitution G A intron_variant LIRI-JP 11 107965026 107965026 single base substitution A G intron_variant LIRI-JP 11 107968856 107968856 single base substitution A G intron_variant LIRI-JP 11 107969235 107969235 single base substitution A T exon_variant LIRI-JP 11 107969235 107969235 single base substitution A T missense_variant Q709H 2127A>T LIRI-JP 11 107969780 107969780 single base substitution A G intron_variant LIRI-JP 11 107972380 107972380 single base substitution A G intron_variant LIRI-JP 11 107973619 107973619 single base substitution C T intron_variant LIRI-JP 11 107973996 107973996 single base substitution A T intron_variant LIRI-JP 11 107974139 107974139 deletion of <=200bp G - intron_variant LIRI-JP 11 107975383 107975383 single base substitution G C 3_prime_UTR_variant LIRI-JP 11 107976292 107976292 single base substitution G A 3_prime_UTR_variant LIRI-JP 11 107976292 107976292 single base substitution G A intron_variant LIRI-JP 11 107976448 107976448 single base substitution C T 3_prime_UTR_variant LIRI-JP 11 107976448 107976448 single base substitution C T intron_variant LIRI-JP 11 107976610 107976610 single base substitution T G 3_prime_UTR_variant LIRI-JP 11 107976610 107976610 single base substitution T G intron_variant LIRI-JP 11 107978063 107978063 single base substitution G C 3_prime_UTR_variant LIRI-JP 11 107978063 107978063 single base substitution G C downstream_gene_variant LIRI-JP 11 107979482 107979482 single base substitution A G downstream_gene_variant LIRI-JP 11 107981585 107981585 single base substitution A G downstream_gene_variant LIRI-JP 11 107982036 107982036 single base substitution A G downstream_gene_variant LUSC-KR 11 107875884 107875884 single base substitution G A upstream_gene_variant LUSC-KR 11 107887834 107887834 single base substitution G T intron_variant LUSC-KR 11 107889756 107889756 single base substitution C G intron_variant LUSC-KR 11 107897066 107897066 single base substitution C G intron_variant LUSC-KR 11 107901745 107901745 single base substitution T G intron_variant LUSC-KR 11 107902426 107902426 single base substitution G T intron_variant LUSC-KR 11 107903500 107903500 single base substitution T A intron_variant LUSC-KR 11 107908575 107908575 single base substitution C G intron_variant LUSC-KR 11 107910517 107910517 single base substitution T A intron_variant LUSC-KR 11 107912209 107912209 single base substitution G C intron_variant LUSC-KR 11 107912209 107912209 single base substitution G C upstream_gene_variant LUSC-KR 11 107912965 107912965 single base substitution G T intron_variant LUSC-KR 11 107912965 107912965 single base substitution G T upstream_gene_variant LUSC-KR 11 107914774 107914774 single base substitution T A intron_variant LUSC-KR 11 107914774 107914774 single base substitution T A upstream_gene_variant LUSC-KR 11 107917021 107917021 single base substitution G T exon_variant LUSC-KR 11 107917021 107917021 single base substitution G T intron_variant LUSC-KR 11 107917021 107917021 single base substitution G T missense_variant W53C 159G>T LUSC-KR 11 107917021 107917021 single base substitution G T missense_variant W8C 24G>T LUSC-KR 11 107925453 107925453 single base substitution G T 3_prime_UTR_variant LUSC-KR 11 107925453 107925453 single base substitution G T exon_variant LUSC-KR 11 107925453 107925453 single base substitution G T missense_variant E107D 321G>T LUSC-KR 11 107925453 107925453 single base substitution G T missense_variant E211D 633G>T LUSC-KR 11 107925729 107925729 single base substitution G A downstream_gene_variant LUSC-KR 11 107925729 107925729 single base substitution G A intron_variant LUSC-KR 11 107926314 107926314 single base substitution G T downstream_gene_variant LUSC-KR 11 107926314 107926314 single base substitution G T intron_variant LUSC-KR 11 107926315 107926315 single base substitution G T downstream_gene_variant LUSC-KR 11 107926315 107926315 single base substitution G T intron_variant LUSC-KR 11 107928839 107928839 single base substitution G C downstream_gene_variant LUSC-KR 11 107928839 107928839 single base substitution G C intron_variant LUSC-KR 11 107934279 107934279 single base substitution C A intron_variant LUSC-KR 11 107940296 107940296 single base substitution A C intron_variant LUSC-KR 11 107940296 107940296 single base substitution A C upstream_gene_variant LUSC-KR 11 107957674 107957674 single base substitution A G intron_variant LUSC-KR 11 107959634 107959634 single base substitution T A intron_variant LUSC-KR 11 107960527 107960527 single base substitution G T intron_variant LUSC-KR 11 107960532 107960532 single base substitution C T intron_variant LUSC-KR 11 107963201 107963201 single base substitution T C intron_variant LUSC-KR 11 107964592 107964592 single base substitution A T intron_variant LUSC-KR 11 107972115 107972115 single base substitution C T intron_variant LUSC-KR 11 107974671 107974671 single base substitution G T intron_variant LUSC-KR 11 107976450 107976450 single base substitution C T 3_prime_UTR_variant LUSC-KR 11 107976450 107976450 single base substitution C T intron_variant LUSC-KR 11 107977059 107977059 single base substitution T C 3_prime_UTR_variant LUSC-KR 11 107977238 107977238 single base substitution C A 3_prime_UTR_variant LUSC-KR 11 107981453 107981453 single base substitution G A downstream_gene_variant LUSC-US 11 107920638 107920638 single base substitution G A 3_prime_UTR_variant LUSC-US 11 107920638 107920638 single base substitution G A downstream_gene_variant LUSC-US 11 107920638 107920638 single base substitution G A exon_variant LUSC-US 11 107920638 107920638 single base substitution G A intron_variant LUSC-US 11 107920638 107920638 single base substitution G A missense_variant D86N 256G>A LUSC-US 11 107920721 107920721 single base substitution A G 3_prime_UTR_variant LUSC-US 11 107920721 107920721 single base substitution A G downstream_gene_variant LUSC-US 11 107920721 107920721 single base substitution A G exon_variant LUSC-US 11 107920721 107920721 single base substitution A G intron_variant LUSC-US 11 107920721 107920721 single base substitution A G synonymous_variant Q113Q 339A>G LUSC-US 11 107923528 107923528 single base substitution G A missense_variant V185I 553G>A LUSC-US 11 107923528 107923528 single base substitution G A missense_variant V81I 241G>A LUSC-US 11 107923528 107923528 single base substitution G A splice_region_variant LUSC-US 11 107959295 107959295 single base substitution T A exon_variant LUSC-US 11 107959295 107959295 single base substitution T A missense_variant L407Q 1220T>A LUSC-US 11 107966404 107966404 single base substitution A T exon_variant LUSC-US 11 107966404 107966404 single base substitution A T missense_variant R631W 1891A>T MALY-DE 11 107875756 107875756 single base substitution C T upstream_gene_variant MALY-DE 11 107880249 107880249 single base substitution G A intron_variant MALY-DE 11 107913121 107913121 insertion of <=200bp - T intron_variant MALY-DE 11 107913121 107913121 insertion of <=200bp - T upstream_gene_variant MALY-DE 11 107918084 107918084 single base substitution G A downstream_gene_variant MALY-DE 11 107918084 107918084 single base substitution G A intron_variant MALY-DE 11 107921002 107921002 single base substitution A G downstream_gene_variant MALY-DE 11 107921002 107921002 single base substitution A G intron_variant MALY-DE 11 107926190 107926190 single base substitution A G downstream_gene_variant MALY-DE 11 107926190 107926190 single base substitution A G intron_variant MALY-DE 11 107926668 107926668 insertion of <=200bp - T downstream_gene_variant MALY-DE 11 107926668 107926668 insertion of <=200bp - T intron_variant MALY-DE 11 107934056 107934056 single base substitution A C intron_variant MALY-DE 11 107937288 107937288 single base substitution C T intron_variant MALY-DE 11 107941899 107941899 single base substitution G A intron_variant MALY-DE 11 107941899 107941899 single base substitution G A upstream_gene_variant MALY-DE 11 107942936 107942936 single base substitution A G intron_variant MALY-DE 11 107942936 107942936 single base substitution A G upstream_gene_variant MALY-DE 11 107944652 107944652 single base substitution A G exon_variant MALY-DE 11 107944652 107944652 single base substitution A G intron_variant MALY-DE 11 107944799 107944802 deletion of <=200bp GTTA - downstream_gene_variant MALY-DE 11 107944799 107944802 deletion of <=200bp GTTA - intron_variant MALY-DE 11 107978214 107978214 single base substitution C A 3_prime_UTR_variant MALY-DE 11 107978214 107978214 single base substitution C A downstream_gene_variant MELA-AU 11 107874572 107874572 single base substitution C T upstream_gene_variant MELA-AU 11 107874889 107874889 single base substitution A T upstream_gene_variant MELA-AU 11 107875655 107875655 single base substitution G A upstream_gene_variant MELA-AU 11 107876052 107876052 single base substitution C T upstream_gene_variant MELA-AU 11 107876151 107876151 single base substitution G A upstream_gene_variant MELA-AU 11 107876422 107876422 single base substitution G A upstream_gene_variant MELA-AU 11 107876423 107876423 single base substitution G A upstream_gene_variant MELA-AU 11 107876442 107876442 single base substitution G A upstream_gene_variant MELA-AU 11 107876516 107876516 single base substitution G A upstream_gene_variant MELA-AU 11 107876606 107876606 single base substitution C T upstream_gene_variant MELA-AU 11 107876956 107876956 single base substitution G A upstream_gene_variant MELA-AU 11 107877164 107877164 single base substitution G A upstream_gene_variant MELA-AU 11 107877393 107877393 single base substitution C T upstream_gene_variant MELA-AU 11 107878258 107878258 single base substitution T C upstream_gene_variant MELA-AU 11 107878782 107878782 single base substitution G A upstream_gene_variant MELA-AU 11 107879591 107879591 single base substitution C T 5_prime_UTR_variant MELA-AU 11 107879591 107879591 single base substitution C T upstream_gene_variant MELA-AU 11 107881031 107881031 single base substitution C T intron_variant MELA-AU 11 107882085 107882085 single base substitution G T intron_variant MELA-AU 11 107882573 107882573 single base substitution C T intron_variant MELA-AU 11 107883571 107883571 single base substitution C T intron_variant MELA-AU 11 107884087 107884087 single base substitution C T intron_variant MELA-AU 11 107886281 107886282 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 107890175 107890175 single base substitution T A intron_variant MELA-AU 11 107892387 107892387 single base substitution A T intron_variant MELA-AU 11 107892854 107892854 single base substitution T G intron_variant MELA-AU 11 107892975 107892975 single base substitution C T intron_variant MELA-AU 11 107893340 107893340 single base substitution C T intron_variant MELA-AU 11 107894489 107894489 single base substitution C T intron_variant MELA-AU 11 107895399 107895399 single base substitution C T intron_variant MELA-AU 11 107895671 107895671 single base substitution C T intron_variant MELA-AU 11 107896237 107896238 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 107897976 107897976 single base substitution A C intron_variant MELA-AU 11 107898628 107898628 single base substitution C T intron_variant MELA-AU 11 107899297 107899297 single base substitution G A intron_variant MELA-AU 11 107900440 107900440 single base substitution C T intron_variant MELA-AU 11 107900923 107900923 single base substitution C T intron_variant MELA-AU 11 107901014 107901014 single base substitution G A intron_variant MELA-AU 11 107901317 107901317 single base substitution C T intron_variant MELA-AU 11 107902380 107902380 single base substitution T C intron_variant MELA-AU 11 107902382 107902382 single base substitution C T intron_variant MELA-AU 11 107902453 107902453 single base substitution C T intron_variant MELA-AU 11 107903059 107903059 single base substitution C G intron_variant MELA-AU 11 107903820 107903820 single base substitution G A intron_variant MELA-AU 11 107904309 107904309 single base substitution C T intron_variant MELA-AU 11 107904315 107904315 single base substitution C T intron_variant MELA-AU 11 107904637 107904637 single base substitution C T missense_variant S45L 134C>T MELA-AU 11 107904637 107904637 single base substitution C T splice_region_variant MELA-AU 11 107904831 107904831 single base substitution C T intron_variant MELA-AU 11 107905348 107905348 single base substitution G A intron_variant MELA-AU 11 107905350 107905350 single base substitution G A intron_variant MELA-AU 11 107905643 107905643 single base substitution C T intron_variant MELA-AU 11 107905955 107905956 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 107906429 107906429 single base substitution C T intron_variant MELA-AU 11 107907383 107907383 single base substitution C T intron_variant MELA-AU 11 107908089 107908089 single base substitution C T intron_variant MELA-AU 11 107908221 107908221 single base substitution G A intron_variant MELA-AU 11 107909627 107909628 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 107910102 107910102 single base substitution C T intron_variant MELA-AU 11 107910364 107910364 single base substitution C T intron_variant MELA-AU 11 107910396 107910396 single base substitution C G intron_variant MELA-AU 11 107910531 107910531 single base substitution T C intron_variant MELA-AU 11 107910580 107910580 single base substitution C T intron_variant MELA-AU 11 107910612 107910612 single base substitution C T intron_variant MELA-AU 11 107910930 107910930 single base substitution G A intron_variant MELA-AU 11 107910966 107910966 single base substitution G A intron_variant MELA-AU 11 107911298 107911298 single base substitution C T intron_variant MELA-AU 11 107912577 107912577 single base substitution C T intron_variant MELA-AU 11 107912577 107912577 single base substitution C T upstream_gene_variant MELA-AU 11 107913182 107913182 single base substitution C T intron_variant MELA-AU 11 107913182 107913182 single base substitution C T upstream_gene_variant MELA-AU 11 107914626 107914626 single base substitution T G intron_variant MELA-AU 11 107914626 107914626 single base substitution T G upstream_gene_variant MELA-AU 11 107915036 107915037 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 107915036 107915037 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 107915067 107915067 single base substitution A T intron_variant MELA-AU 11 107915067 107915067 single base substitution A T upstream_gene_variant MELA-AU 11 107915324 107915324 single base substitution T A intron_variant MELA-AU 11 107915324 107915324 single base substitution T A upstream_gene_variant MELA-AU 11 107915739 107915739 single base substitution C T intron_variant MELA-AU 11 107915739 107915739 single base substitution C T upstream_gene_variant MELA-AU 11 107916351 107916351 single base substitution G A intron_variant MELA-AU 11 107916351 107916351 single base substitution G A upstream_gene_variant MELA-AU 11 107916781 107916781 single base substitution G T intron_variant MELA-AU 11 107916781 107916781 single base substitution G T upstream_gene_variant MELA-AU 11 107917488 107917488 single base substitution A G downstream_gene_variant MELA-AU 11 107917488 107917488 single base substitution A G intron_variant MELA-AU 11 107917545 107917545 single base substitution C T downstream_gene_variant MELA-AU 11 107917545 107917545 single base substitution C T intron_variant MELA-AU 11 107917684 107917684 single base substitution T C downstream_gene_variant MELA-AU 11 107917684 107917684 single base substitution T C intron_variant MELA-AU 11 107918805 107918805 single base substitution A G downstream_gene_variant MELA-AU 11 107918805 107918805 single base substitution A G intron_variant MELA-AU 11 107918916 107918916 single base substitution C T downstream_gene_variant MELA-AU 11 107918916 107918916 single base substitution C T intron_variant MELA-AU 11 107918957 107918957 single base substitution T C downstream_gene_variant MELA-AU 11 107918957 107918957 single base substitution T C intron_variant MELA-AU 11 107919369 107919369 single base substitution C T downstream_gene_variant MELA-AU 11 107919369 107919369 single base substitution C T intron_variant MELA-AU 11 107919405 107919405 single base substitution T C downstream_gene_variant MELA-AU 11 107919405 107919405 single base substitution T C intron_variant MELA-AU 11 107919750 107919750 single base substitution C T downstream_gene_variant MELA-AU 11 107919750 107919750 single base substitution C T intron_variant MELA-AU 11 107922000 107922000 deletion of <=200bp T - downstream_gene_variant MELA-AU 11 107922000 107922000 deletion of <=200bp T - intron_variant MELA-AU 11 107922557 107922557 single base substitution C T intron_variant MELA-AU 11 107923559 107923559 single base substitution C T intron_variant MELA-AU 11 107923707 107923707 single base substitution C T intron_variant MELA-AU 11 107923757 107923757 single base substitution C T intron_variant MELA-AU 11 107924435 107924435 single base substitution T G intron_variant MELA-AU 11 107924894 107924894 single base substitution G A intron_variant MELA-AU 11 107924913 107924913 single base substitution G A intron_variant MELA-AU 11 107925045 107925045 single base substitution C T intron_variant MELA-AU 11 107925560 107925560 single base substitution C T downstream_gene_variant MELA-AU 11 107925560 107925560 single base substitution C T intron_variant MELA-AU 11 107925600 107925600 single base substitution A T downstream_gene_variant MELA-AU 11 107925600 107925600 single base substitution A T splice_acceptor_variant MELA-AU 11 107925672 107925672 single base substitution C T 3_prime_UTR_variant MELA-AU 11 107925672 107925672 single base substitution C T downstream_gene_variant MELA-AU 11 107925672 107925672 single base substitution C T exon_variant MELA-AU 11 107925672 107925672 single base substitution C T missense_variant S257F 770C>T MELA-AU 11 107926020 107926020 single base substitution C T downstream_gene_variant MELA-AU 11 107926020 107926020 single base substitution C T intron_variant MELA-AU 11 107926342 107926343 deletion of <=200bp AT - downstream_gene_variant MELA-AU 11 107926342 107926343 deletion of <=200bp AT - intron_variant MELA-AU 11 107926594 107926594 single base substitution G A downstream_gene_variant MELA-AU 11 107926594 107926594 single base substitution G A intron_variant MELA-AU 11 107926960 107926960 single base substitution C T downstream_gene_variant MELA-AU 11 107926960 107926960 single base substitution C T intron_variant MELA-AU 11 107927385 107927385 single base substitution C T downstream_gene_variant MELA-AU 11 107927385 107927385 single base substitution C T intron_variant MELA-AU 11 107928733 107928733 single base substitution C T downstream_gene_variant MELA-AU 11 107928733 107928733 single base substitution C T intron_variant MELA-AU 11 107929004 107929004 single base substitution C T downstream_gene_variant MELA-AU 11 107929004 107929004 single base substitution C T intron_variant MELA-AU 11 107929135 107929135 single base substitution C T downstream_gene_variant MELA-AU 11 107929135 107929135 single base substitution C T intron_variant MELA-AU 11 107930031 107930031 insertion of <=200bp - TT downstream_gene_variant MELA-AU 11 107930031 107930031 insertion of <=200bp - TT intron_variant MELA-AU 11 107931766 107931766 single base substitution G C intron_variant MELA-AU 11 107931858 107931858 single base substitution C T intron_variant MELA-AU 11 107932026 107932026 single base substitution C A intron_variant MELA-AU 11 107932463 107932463 single base substitution C T intron_variant MELA-AU 11 107933127 107933127 single base substitution C T intron_variant MELA-AU 11 107933956 107933956 single base substitution C T intron_variant MELA-AU 11 107934020 107934020 single base substitution C T intron_variant MELA-AU 11 107934434 107934434 single base substitution C T intron_variant MELA-AU 11 107934442 107934442 single base substitution C G intron_variant MELA-AU 11 107934531 107934531 single base substitution A G intron_variant MELA-AU 11 107934875 107934875 single base substitution T C intron_variant MELA-AU 11 107934923 107934923 single base substitution C T intron_variant MELA-AU 11 107935770 107935770 single base substitution T C intron_variant MELA-AU 11 107936173 107936173 deletion of <=200bp C - intron_variant MELA-AU 11 107937040 107937040 single base substitution C T intron_variant MELA-AU 11 107937114 107937114 single base substitution A G intron_variant MELA-AU 11 107937334 107937334 single base substitution A T intron_variant MELA-AU 11 107937336 107937336 single base substitution C A intron_variant MELA-AU 11 107937534 107937534 single base substitution C T intron_variant MELA-AU 11 107937915 107937915 single base substitution C T intron_variant MELA-AU 11 107938342 107938343 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 107938448 107938448 single base substitution C T intron_variant MELA-AU 11 107938452 107938452 single base substitution T A intron_variant MELA-AU 11 107939021 107939021 single base substitution G A intron_variant MELA-AU 11 107939155 107939155 single base substitution C T intron_variant MELA-AU 11 107939155 107939155 single base substitution C T upstream_gene_variant MELA-AU 11 107939175 107939175 single base substitution C T intron_variant MELA-AU 11 107939175 107939175 single base substitution C T upstream_gene_variant MELA-AU 11 107939697 107939697 single base substitution C T intron_variant MELA-AU 11 107939697 107939697 single base substitution C T upstream_gene_variant MELA-AU 11 107940030 107940030 single base substitution C T intron_variant MELA-AU 11 107940030 107940030 single base substitution C T upstream_gene_variant MELA-AU 11 107941172 107941172 single base substitution C T intron_variant MELA-AU 11 107941172 107941172 single base substitution C T upstream_gene_variant MELA-AU 11 107941299 107941299 single base substitution C T intron_variant MELA-AU 11 107941299 107941299 single base substitution C T upstream_gene_variant MELA-AU 11 107941581 107941581 single base substitution C T intron_variant MELA-AU 11 107941581 107941581 single base substitution C T upstream_gene_variant MELA-AU 11 107942610 107942610 single base substitution A T intron_variant MELA-AU 11 107942610 107942610 single base substitution A T upstream_gene_variant MELA-AU 11 107944104 107944104 single base substitution C T intron_variant MELA-AU 11 107944104 107944104 single base substitution C T upstream_gene_variant MELA-AU 11 107944373 107944373 single base substitution C T intron_variant MELA-AU 11 107944577 107944577 single base substitution C T exon_variant MELA-AU 11 107944577 107944577 single base substitution C T intron_variant MELA-AU 11 107944814 107944814 single base substitution T G downstream_gene_variant MELA-AU 11 107944814 107944814 single base substitution T G intron_variant MELA-AU 11 107944837 107944837 single base substitution C T downstream_gene_variant MELA-AU 11 107944837 107944837 single base substitution C T intron_variant MELA-AU 11 107944902 107944902 single base substitution T A downstream_gene_variant MELA-AU 11 107944902 107944902 single base substitution T A intron_variant MELA-AU 11 107945012 107945012 single base substitution C T downstream_gene_variant MELA-AU 11 107945012 107945012 single base substitution C T intron_variant MELA-AU 11 107945075 107945075 single base substitution C T downstream_gene_variant MELA-AU 11 107945075 107945075 single base substitution C T intron_variant MELA-AU 11 107945487 107945487 single base substitution C T downstream_gene_variant MELA-AU 11 107945487 107945487 single base substitution C T intron_variant MELA-AU 11 107945492 107945492 single base substitution C T downstream_gene_variant MELA-AU 11 107945492 107945492 single base substitution C T intron_variant MELA-AU 11 107946458 107946458 single base substitution A G downstream_gene_variant MELA-AU 11 107946458 107946458 single base substitution A G intron_variant MELA-AU 11 107946711 107946711 single base substitution T C downstream_gene_variant MELA-AU 11 107946711 107946711 single base substitution T C intron_variant MELA-AU 11 107948028 107948028 single base substitution G A downstream_gene_variant MELA-AU 11 107948028 107948028 single base substitution G A intron_variant MELA-AU 11 107948294 107948294 single base substitution T C downstream_gene_variant MELA-AU 11 107948294 107948294 single base substitution T C intron_variant MELA-AU 11 107948499 107948499 single base substitution C T downstream_gene_variant MELA-AU 11 107948499 107948499 single base substitution C T intron_variant MELA-AU 11 107948989 107948989 deletion of <=200bp T - downstream_gene_variant MELA-AU 11 107948989 107948989 deletion of <=200bp T - intron_variant MELA-AU 11 107949215 107949215 single base substitution C T downstream_gene_variant MELA-AU 11 107949215 107949215 single base substitution C T intron_variant MELA-AU 11 107949217 107949217 single base substitution C T downstream_gene_variant MELA-AU 11 107949217 107949217 single base substitution C T intron_variant MELA-AU 11 107949547 107949547 single base substitution G A downstream_gene_variant MELA-AU 11 107949547 107949547 single base substitution G A intron_variant MELA-AU 11 107949921 107949921 single base substitution C A intron_variant MELA-AU 11 107950029 107950029 single base substitution C T intron_variant MELA-AU 11 107950433 107950433 single base substitution C T intron_variant MELA-AU 11 107950436 107950436 single base substitution C T intron_variant MELA-AU 11 107950687 107950687 single base substitution C T intron_variant MELA-AU 11 107950994 107950994 single base substitution C T intron_variant MELA-AU 11 107951634 107951634 single base substitution C T intron_variant MELA-AU 11 107951840 107951840 single base substitution C T intron_variant MELA-AU 11 107951929 107951929 single base substitution C T intron_variant MELA-AU 11 107952190 107952190 single base substitution C T intron_variant MELA-AU 11 107952686 107952686 single base substitution C T intron_variant MELA-AU 11 107952937 107952938 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 107952946 107952946 single base substitution C T intron_variant MELA-AU 11 107953229 107953229 single base substitution C T intron_variant MELA-AU 11 107953361 107953361 single base substitution A G intron_variant MELA-AU 11 107953812 107953812 single base substitution C T intron_variant MELA-AU 11 107954056 107954056 single base substitution T G intron_variant MELA-AU 11 107954622 107954622 single base substitution C T intron_variant MELA-AU 11 107954941 107954941 single base substitution C T intron_variant MELA-AU 11 107955000 107955000 single base substitution C T intron_variant MELA-AU 11 107955308 107955308 single base substitution C T intron_variant MELA-AU 11 107956017 107956017 single base substitution A T intron_variant MELA-AU 11 107956237 107956237 single base substitution G A intron_variant MELA-AU 11 107956644 107956644 single base substitution T C intron_variant MELA-AU 11 107956907 107956907 single base substitution C T intron_variant MELA-AU 11 107957470 107957470 single base substitution C T intron_variant MELA-AU 11 107958142 107958142 single base substitution C T intron_variant MELA-AU 11 107958651 107958651 single base substitution C T intron_variant MELA-AU 11 107959247 107959247 single base substitution T A splice_region_variant MELA-AU 11 107959920 107959920 single base substitution G A intron_variant MELA-AU 11 107960353 107960353 single base substitution A T splice_region_variant MELA-AU 11 107960359 107960359 single base substitution A G intron_variant MELA-AU 11 107960371 107960371 single base substitution A G intron_variant MELA-AU 11 107961453 107961453 single base substitution C T intron_variant MELA-AU 11 107961485 107961485 single base substitution C T intron_variant MELA-AU 11 107962166 107962166 single base substitution C T intron_variant MELA-AU 11 107963653 107963653 single base substitution C T intron_variant MELA-AU 11 107963870 107963870 single base substitution G A intron_variant MELA-AU 11 107965004 107965004 single base substitution G A intron_variant MELA-AU 11 107965576 107965576 single base substitution C T exon_variant MELA-AU 11 107965576 107965576 single base substitution C T synonymous_variant A535A 1605C>T MELA-AU 11 107965893 107965893 single base substitution C T intron_variant MELA-AU 11 107966239 107966239 single base substitution C T intron_variant MELA-AU 11 107968998 107968998 single base substitution T C intron_variant MELA-AU 11 107969013 107969014 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 11 107969588 107969588 single base substitution T A intron_variant MELA-AU 11 107970002 107970002 single base substitution G A intron_variant MELA-AU 11 107970196 107970196 single base substitution A T intron_variant MELA-AU 11 107970198 107970198 single base substitution A C intron_variant MELA-AU 11 107970200 107970200 single base substitution A C intron_variant MELA-AU 11 107971005 107971005 single base substitution C T intron_variant MELA-AU 11 107971355 107971355 single base substitution C G intron_variant MELA-AU 11 107971481 107971481 single base substitution G A intron_variant MELA-AU 11 107971562 107971562 single base substitution C T intron_variant MELA-AU 11 107971829 107971829 single base substitution T A intron_variant MELA-AU 11 107971928 107971928 single base substitution C T intron_variant MELA-AU 11 107972839 107972839 single base substitution C T intron_variant MELA-AU 11 107973059 107973059 single base substitution T A intron_variant MELA-AU 11 107973161 107973161 single base substitution C T intron_variant MELA-AU 11 107974139 107974139 deletion of <=200bp G - intron_variant MELA-AU 11 107974610 107974610 single base substitution C T intron_variant MELA-AU 11 107974910 107974910 single base substitution C T intron_variant MELA-AU 11 107974910 107974910 single base substitution C T splice_region_variant MELA-AU 11 107975494 107975494 single base substitution C T 3_prime_UTR_variant MELA-AU 11 107976429 107976429 single base substitution C T 3_prime_UTR_variant MELA-AU 11 107976429 107976429 single base substitution C T intron_variant MELA-AU 11 107978755 107978755 single base substitution C T downstream_gene_variant MELA-AU 11 107979421 107979421 single base substitution C A downstream_gene_variant MELA-AU 11 107979456 107979456 single base substitution C T downstream_gene_variant MELA-AU 11 107979512 107979512 single base substitution C T downstream_gene_variant MELA-AU 11 107980469 107980469 single base substitution C T downstream_gene_variant MELA-AU 11 107981381 107981381 single base substitution C T downstream_gene_variant MELA-AU 11 107981423 107981423 single base substitution T G downstream_gene_variant MELA-AU 11 107981543 107981543 single base substitution G A downstream_gene_variant MELA-AU 11 107981822 107981822 single base substitution C T downstream_gene_variant MELA-AU 11 107982351 107982351 single base substitution C T downstream_gene_variant MELA-AU 11 107982578 107982578 single base substitution C T downstream_gene_variant MELA-AU 11 107982798 107982798 single base substitution C A downstream_gene_variant MELA-AU 11 107982852 107982852 single base substitution C T downstream_gene_variant MELA-AU 11 107983068 107983068 single base substitution C G downstream_gene_variant ORCA-IN 11 107909664 107909664 single base substitution A G intron_variant ORCA-IN 11 107923433 107923433 single base substitution A G 3_prime_UTR_variant ORCA-IN 11 107923433 107923433 single base substitution A G exon_variant ORCA-IN 11 107923433 107923433 single base substitution A G missense_variant N153S 458A>G ORCA-IN 11 107923433 107923433 single base substitution A G missense_variant N49S 146A>G ORCA-IN 11 107932627 107932627 single base substitution A G intron_variant ORCA-IN 11 107944968 107944968 single base substitution C T downstream_gene_variant ORCA-IN 11 107944968 107944968 single base substitution C T intron_variant ORCA-IN 11 107950857 107950857 single base substitution G C intron_variant ORCA-IN 11 107959964 107959964 single base substitution C T intron_variant ORCA-IN 11 107977265 107977265 deletion of <=200bp C - 3_prime_UTR_variant OV-AU 11 107875354 107875354 single base substitution G T upstream_gene_variant OV-AU 11 107877476 107877476 single base substitution G A upstream_gene_variant OV-AU 11 107904786 107904786 single base substitution A G intron_variant OV-AU 11 107905557 107905557 single base substitution A G intron_variant OV-AU 11 107920279 107920279 single base substitution A T downstream_gene_variant OV-AU 11 107920279 107920279 single base substitution A T intron_variant OV-AU 11 107920706 107920706 single base substitution A C 3_prime_UTR_variant OV-AU 11 107920706 107920706 single base substitution A C downstream_gene_variant OV-AU 11 107920706 107920706 single base substitution A C exon_variant OV-AU 11 107920706 107920706 single base substitution A C intron_variant OV-AU 11 107920706 107920706 single base substitution A C synonymous_variant P108P 324A>C OV-AU 11 107920990 107920990 single base substitution C A downstream_gene_variant OV-AU 11 107920990 107920990 single base substitution C A intron_variant OV-AU 11 107922505 107922505 single base substitution C A intron_variant OV-AU 11 107922968 107922968 single base substitution G A intron_variant OV-AU 11 107924737 107924737 single base substitution T G intron_variant OV-AU 11 107926365 107926365 single base substitution C G downstream_gene_variant OV-AU 11 107926365 107926365 single base substitution C G intron_variant OV-AU 11 107929470 107929470 single base substitution G C downstream_gene_variant OV-AU 11 107929470 107929470 single base substitution G C intron_variant OV-AU 11 107930815 107930815 single base substitution T C intron_variant OV-AU 11 107930816 107930816 single base substitution A T intron_variant OV-AU 11 107933058 107933058 single base substitution A G intron_variant OV-AU 11 107947251 107947251 single base substitution G T downstream_gene_variant OV-AU 11 107947251 107947251 single base substitution G T intron_variant OV-AU 11 107948089 107948089 single base substitution G A downstream_gene_variant OV-AU 11 107948089 107948089 single base substitution G A intron_variant OV-AU 11 107951506 107951506 single base substitution G T intron_variant OV-AU 11 107954257 107954257 single base substitution C T intron_variant OV-AU 11 107954309 107954309 single base substitution C G intron_variant OV-AU 11 107961903 107961903 single base substitution T C intron_variant OV-AU 11 107964691 107964691 single base substitution A G intron_variant OV-AU 11 107980875 107980875 single base substitution A C downstream_gene_variant OV-US 11 107925383 107925383 single base substitution G T 3_prime_UTR_variant OV-US 11 107925383 107925383 single base substitution G T exon_variant OV-US 11 107925383 107925383 single base substitution G T missense_variant C188F 563G>T OV-US 11 107925383 107925383 single base substitution G T missense_variant C84F 251G>T PACA-AU 11 107874494 107874494 single base substitution C T upstream_gene_variant PACA-AU 11 107876863 107876863 single base substitution G A upstream_gene_variant PACA-AU 11 107877411 107877411 single base substitution C T upstream_gene_variant PACA-AU 11 107879944 107879944 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 11 107879944 107879944 single base substitution C G exon_variant PACA-AU 11 107879944 107879944 single base substitution C G upstream_gene_variant PACA-AU 11 107886983 107886983 single base substitution T C intron_variant PACA-AU 11 107899534 107899534 single base substitution A G intron_variant PACA-AU 11 107906676 107906676 single base substitution C T intron_variant PACA-AU 11 107907540 107907558 deletion of <=200bp AGCAGTAAATTCAGTGTTT - intron_variant PACA-AU 11 107912942 107912942 single base substitution A G intron_variant PACA-AU 11 107912942 107912942 single base substitution A G upstream_gene_variant PACA-AU 11 107915495 107915495 single base substitution T C intron_variant PACA-AU 11 107915495 107915495 single base substitution T C upstream_gene_variant PACA-AU 11 107917229 107917229 single base substitution A C downstream_gene_variant PACA-AU 11 107917229 107917229 single base substitution A C intron_variant PACA-AU 11 107930266 107930266 single base substitution G A downstream_gene_variant PACA-AU 11 107930266 107930266 single base substitution G A intron_variant PACA-AU 11 107934442 107934442 single base substitution C G intron_variant PACA-AU 11 107939046 107939046 single base substitution G T intron_variant PACA-AU 11 107939222 107939222 single base substitution T C intron_variant PACA-AU 11 107939222 107939222 single base substitution T C upstream_gene_variant PACA-AU 11 107940869 107940869 single base substitution C G exon_variant PACA-AU 11 107940869 107940869 single base substitution C G missense_variant T276S 827C>G PACA-AU 11 107940869 107940869 single base substitution C G upstream_gene_variant PACA-AU 11 107944060 107944060 deletion of <=200bp T - intron_variant PACA-AU 11 107944060 107944060 deletion of <=200bp T - upstream_gene_variant PACA-AU 11 107944245 107944245 deletion of <=200bp A - intron_variant PACA-AU 11 107946162 107946162 single base substitution G A downstream_gene_variant PACA-AU 11 107946162 107946162 single base substitution G A intron_variant PACA-AU 11 107951248 107951248 single base substitution G C intron_variant PACA-AU 11 107952472 107952472 single base substitution C T intron_variant PACA-AU 11 107953735 107953735 single base substitution T C intron_variant PACA-AU 11 107960461 107960461 single base substitution T A intron_variant PACA-AU 11 107960955 107960955 single base substitution C G intron_variant PACA-AU 11 107961497 107961498 deletion of <=200bp GA - intron_variant PACA-AU 11 107961646 107961647 deletion of <=200bp TT - intron_variant PACA-AU 11 107969174 107969174 single base substitution T C exon_variant PACA-AU 11 107969174 107969174 single base substitution T C missense_variant I689T 2066T>C PACA-AU 11 107969196 107969196 single base substitution A T exon_variant PACA-AU 11 107969196 107969196 single base substitution A T synonymous_variant T696T 2088A>T PACA-AU 11 107969580 107969580 single base substitution A C intron_variant PACA-AU 11 107971574 107971574 single base substitution G C intron_variant PACA-AU 11 107979512 107979512 single base substitution C T downstream_gene_variant PACA-AU 11 107981141 107981141 single base substitution T C downstream_gene_variant PACA-AU 11 107982482 107982482 single base substitution C G downstream_gene_variant PACA-CA 11 107874745 107874745 single base substitution C T upstream_gene_variant PACA-CA 11 107876688 107876688 single base substitution G A upstream_gene_variant PACA-CA 11 107885634 107885634 single base substitution T A intron_variant PACA-CA 11 107887059 107887059 single base substitution C T intron_variant PACA-CA 11 107893577 107893577 deletion of <=200bp A - intron_variant PACA-CA 11 107893989 107893989 deletion of <=200bp A - intron_variant PACA-CA 11 107897535 107897535 single base substitution C T intron_variant PACA-CA 11 107901154 107901154 single base substitution G A intron_variant PACA-CA 11 107902810 107902810 single base substitution G C intron_variant PACA-CA 11 107907473 107907473 single base substitution G A intron_variant PACA-CA 11 107908816 107908816 single base substitution T G intron_variant PACA-CA 11 107909633 107909633 single base substitution T C intron_variant PACA-CA 11 107910622 107910622 single base substitution T C intron_variant PACA-CA 11 107912759 107912759 single base substitution A G intron_variant PACA-CA 11 107912759 107912759 single base substitution A G upstream_gene_variant PACA-CA 11 107915833 107915833 single base substitution C T intron_variant PACA-CA 11 107915833 107915833 single base substitution C T upstream_gene_variant PACA-CA 11 107919163 107919163 single base substitution A G downstream_gene_variant PACA-CA 11 107919163 107919163 single base substitution A G intron_variant PACA-CA 11 107920385 107920385 single base substitution G A downstream_gene_variant PACA-CA 11 107920385 107920385 single base substitution G A intron_variant PACA-CA 11 107920474 107920474 single base substitution T G downstream_gene_variant PACA-CA 11 107920474 107920474 single base substitution T G intron_variant PACA-CA 11 107920624 107920624 single base substitution T C downstream_gene_variant PACA-CA 11 107920624 107920624 single base substitution T C exon_variant PACA-CA 11 107920624 107920624 single base substitution T C intron_variant PACA-CA 11 107920624 107920624 single base substitution T C missense_variant L81P 242T>C PACA-CA 11 107921036 107921036 single base substitution C A downstream_gene_variant PACA-CA 11 107921036 107921036 single base substitution C A intron_variant PACA-CA 11 107921111 107921111 single base substitution T A downstream_gene_variant PACA-CA 11 107921111 107921111 single base substitution T A intron_variant PACA-CA 11 107922971 107922971 single base substitution T C intron_variant PACA-CA 11 107923475 107923475 single base substitution G C 3_prime_UTR_variant PACA-CA 11 107923475 107923475 single base substitution G C exon_variant PACA-CA 11 107923475 107923475 single base substitution G C missense_variant R167T 500G>C PACA-CA 11 107923475 107923475 single base substitution G C missense_variant R63T 188G>C PACA-CA 11 107929222 107929222 single base substitution G A downstream_gene_variant PACA-CA 11 107929222 107929222 single base substitution G A intron_variant PACA-CA 11 107930311 107930311 single base substitution A T downstream_gene_variant PACA-CA 11 107930311 107930311 single base substitution A T intron_variant PACA-CA 11 107935297 107935297 single base substitution C T intron_variant PACA-CA 11 107935745 107935745 single base substitution T A intron_variant PACA-CA 11 107936102 107936102 single base substitution A C intron_variant PACA-CA 11 107940731 107940731 single base substitution T G intron_variant PACA-CA 11 107940731 107940731 single base substitution T G upstream_gene_variant PACA-CA 11 107941773 107941773 single base substitution C T intron_variant PACA-CA 11 107941773 107941773 single base substitution C T upstream_gene_variant PACA-CA 11 107946436 107946436 single base substitution A T downstream_gene_variant PACA-CA 11 107946436 107946436 single base substitution A T intron_variant PACA-CA 11 107946694 107946694 single base substitution G A downstream_gene_variant PACA-CA 11 107946694 107946694 single base substitution G A intron_variant PACA-CA 11 107953086 107953086 single base substitution C A intron_variant PACA-CA 11 107956247 107956247 single base substitution C T intron_variant PACA-CA 11 107959830 107959830 deletion of <=200bp A - intron_variant PACA-CA 11 107959891 107959891 deletion of <=200bp A - intron_variant PACA-CA 11 107963607 107963607 single base substitution G A intron_variant PACA-CA 11 107967093 107967093 single base substitution G T intron_variant PACA-CA 11 107968414 107968414 single base substitution C A exon_variant PACA-CA 11 107968414 107968414 single base substitution C A missense_variant Q653K 1957C>A PACA-CA 11 107979019 107979019 single base substitution C T downstream_gene_variant PAEN-AU 11 107903248 107903248 single base substitution A G intron_variant PAEN-AU 11 107905073 107905073 single base substitution A G intron_variant PAEN-AU 11 107940978 107940981 deletion of <=200bp ACTT - intron_variant PAEN-AU 11 107940978 107940981 deletion of <=200bp ACTT - upstream_gene_variant PAEN-AU 11 107957493 107957493 single base substitution C T intron_variant PAEN-AU 11 107960753 107960753 single base substitution T G intron_variant PAEN-AU 11 107973085 107973085 single base substitution A C intron_variant PAEN-IT 11 107978095 107978095 single base substitution G C 3_prime_UTR_variant PAEN-IT 11 107978095 107978095 single base substitution G C downstream_gene_variant PBCA-DE 11 107876974 107876974 insertion of <=200bp - T upstream_gene_variant PBCA-DE 11 107899401 107899401 insertion of <=200bp - A intron_variant PBCA-DE 11 107908178 107908180 deletion of <=200bp TAC - intron_variant PBCA-DE 11 107926654 107926654 single base substitution G A downstream_gene_variant PBCA-DE 11 107926654 107926654 single base substitution G A intron_variant PBCA-DE 11 107929283 107929283 deletion of <=200bp T - downstream_gene_variant PBCA-DE 11 107929283 107929283 deletion of <=200bp T - intron_variant PBCA-DE 11 107931209 107931209 deletion of <=200bp T - intron_variant PBCA-DE 11 107932622 107932623 deletion of <=200bp GA - intron_variant PBCA-DE 11 107950140 107950140 deletion of <=200bp T - intron_variant PBCA-DE 11 107960312 107960312 single base substitution G A exon_variant PBCA-DE 11 107960312 107960312 single base substitution G A missense_variant D469N 1405G>A PBCA-DE 11 107970878 107970878 insertion of <=200bp - A intron_variant PRAD-CA 11 107880053 107880053 single base substitution G C 5_prime_UTR_variant PRAD-CA 11 107880053 107880053 single base substitution G C exon_variant PRAD-CA 11 107891275 107891275 single base substitution G T intron_variant PRAD-CA 11 107950854 107950854 single base substitution T C intron_variant PRAD-CA 11 107967216 107967216 single base substitution A T intron_variant PRAD-CA 11 107973991 107973991 single base substitution T G intron_variant PRAD-CA 11 107974360 107974360 single base substitution A G intron_variant PRAD-UK 11 107885491 107885491 single base substitution T C intron_variant PRAD-UK 11 107895744 107895744 single base substitution G T intron_variant PRAD-UK 11 107905676 107905676 single base substitution G A intron_variant PRAD-UK 11 107923747 107923747 single base substitution C T intron_variant PRAD-UK 11 107925269 107925269 single base substitution T C intron_variant PRAD-UK 11 107940447 107940447 single base substitution G A intron_variant PRAD-UK 11 107940447 107940447 single base substitution G A upstream_gene_variant PRAD-UK 11 107952262 107952262 single base substitution A T intron_variant PRAD-UK 11 107953420 107953420 single base substitution G T intron_variant PRAD-UK 11 107965548 107965548 single base substitution T G exon_variant PRAD-UK 11 107965548 107965548 single base substitution T G missense_variant V526G 1577T>G PRAD-UK 11 107978117 107978117 single base substitution A T 3_prime_UTR_variant PRAD-UK 11 107978117 107978117 single base substitution A T downstream_gene_variant PRAD-US 11 107965657 107965657 insertion of <=200bp - A exon_variant PRAD-US 11 107965657 107965657 insertion of <=200bp - A frameshift_variant Y562*? RECA-EU 11 107888198 107888198 single base substitution G T intron_variant RECA-EU 11 107890510 107890510 single base substitution T A intron_variant RECA-EU 11 107892446 107892446 single base substitution T C intron_variant RECA-EU 11 107912538 107912538 single base substitution C G intron_variant RECA-EU 11 107912538 107912538 single base substitution C G upstream_gene_variant RECA-EU 11 107913157 107913157 single base substitution T C intron_variant RECA-EU 11 107913157 107913157 single base substitution T C upstream_gene_variant RECA-EU 11 107914785 107914785 single base substitution A T intron_variant RECA-EU 11 107914785 107914785 single base substitution A T upstream_gene_variant RECA-EU 11 107920670 107920670 single base substitution A G 3_prime_UTR_variant RECA-EU 11 107920670 107920670 single base substitution A G downstream_gene_variant RECA-EU 11 107920670 107920670 single base substitution A G exon_variant RECA-EU 11 107920670 107920670 single base substitution A G intron_variant RECA-EU 11 107920670 107920670 single base substitution A G synonymous_variant E96E 288A>G RECA-EU 11 107933907 107933907 single base substitution C A intron_variant RECA-EU 11 107938280 107938280 single base substitution T G intron_variant RECA-EU 11 107941822 107941822 single base substitution T G intron_variant RECA-EU 11 107941822 107941822 single base substitution T G upstream_gene_variant RECA-EU 11 107942234 107942234 single base substitution C G intron_variant RECA-EU 11 107942234 107942234 single base substitution C G upstream_gene_variant RECA-EU 11 107956784 107956784 single base substitution A T intron_variant RECA-EU 11 107959614 107959614 single base substitution G C intron_variant RECA-EU 11 107960367 107960367 single base substitution A T intron_variant RECA-EU 11 107964353 107964353 single base substitution C T intron_variant SKCA-BR 11 107877316 107877332 deletion of <=200bp CATATATATATATATAT - upstream_gene_variant SKCA-BR 11 107877347 107877347 insertion of <=200bp - ATATATATATG upstream_gene_variant SKCA-BR 11 107880880 107880880 single base substitution C T intron_variant SKCA-BR 11 107882992 107882992 single base substitution C T intron_variant SKCA-BR 11 107886397 107886397 single base substitution A C intron_variant SKCA-BR 11 107889935 107889935 single base substitution T G intron_variant SKCA-BR 11 107890149 107890149 single base substitution C T intron_variant SKCA-BR 11 107892557 107892557 single base substitution C T intron_variant SKCA-BR 11 107893744 107893744 single base substitution G A intron_variant SKCA-BR 11 107897999 107898000 deletion of <=200bp AT - intron_variant SKCA-BR 11 107899831 107899831 single base substitution C T intron_variant SKCA-BR 11 107905783 107905783 single base substitution G A intron_variant SKCA-BR 11 107906300 107906301 deletion of <=200bp TA - intron_variant SKCA-BR 11 107912376 107912376 single base substitution A G intron_variant SKCA-BR 11 107912376 107912376 single base substitution A G upstream_gene_variant SKCA-BR 11 107915140 107915140 single base substitution G A intron_variant SKCA-BR 11 107915140 107915140 single base substitution G A upstream_gene_variant SKCA-BR 11 107919628 107919628 single base substitution G A downstream_gene_variant SKCA-BR 11 107919628 107919628 single base substitution G A intron_variant SKCA-BR 11 107930975 107930975 single base substitution G A intron_variant SKCA-BR 11 107938267 107938268 deletion of <=200bp AT - intron_variant SKCA-BR 11 107945097 107945097 single base substitution T G downstream_gene_variant SKCA-BR 11 107945097 107945097 single base substitution T G intron_variant SKCA-BR 11 107945138 107945138 single base substitution T G downstream_gene_variant SKCA-BR 11 107945138 107945138 single base substitution T G intron_variant SKCA-BR 11 107948649 107948649 single base substitution C T downstream_gene_variant SKCA-BR 11 107948649 107948649 single base substitution C T intron_variant SKCA-BR 11 107950854 107950854 insertion of <=200bp - TTC intron_variant SKCA-BR 11 107953428 107953428 single base substitution A G intron_variant SKCA-BR 11 107953797 107953797 single base substitution C T intron_variant SKCA-BR 11 107958907 107958907 single base substitution C T intron_variant SKCA-BR 11 107960766 107960766 insertion of <=200bp - CA intron_variant SKCA-BR 11 107963710 107963710 single base substitution A T intron_variant SKCA-BR 11 107970832 107970832 insertion of <=200bp - GT intron_variant SKCA-BR 11 107971532 107971532 single base substitution T G intron_variant SKCA-BR 11 107972344 107972344 single base substitution T G intron_variant SKCA-BR 11 107979141 107979141 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 11 107981209 107981209 single base substitution C T downstream_gene_variant SKCM-US 11 107917082 107917082 single base substitution A G exon_variant SKCM-US 11 107917082 107917082 single base substitution A G intron_variant SKCM-US 11 107917082 107917082 single base substitution A G missense_variant K29E 85A>G SKCM-US 11 107917082 107917082 single base substitution A G missense_variant K74E 220A>G SKCM-US 11 107920788 107920788 single base substitution C T 3_prime_UTR_variant SKCM-US 11 107920788 107920788 single base substitution C T downstream_gene_variant SKCM-US 11 107920788 107920788 single base substitution C T exon_variant SKCM-US 11 107920788 107920788 single base substitution C T intron_variant SKCM-US 11 107920788 107920788 single base substitution C T stop_gained R136* 406C>T SKCM-US 11 107920793 107920793 single base substitution G A downstream_gene_variant SKCM-US 11 107920793 107920793 single base substitution G A intron_variant SKCM-US 11 107920793 107920793 single base substitution G A splice_region_variant SKCM-US 11 107925391 107925391 single base substitution C T 3_prime_UTR_variant SKCM-US 11 107925391 107925391 single base substitution C T exon_variant SKCM-US 11 107925391 107925391 single base substitution C T missense_variant P191S 571C>T SKCM-US 11 107925391 107925391 single base substitution C T missense_variant P87S 259C>T SKCM-US 11 107959385 107959385 single base substitution T C missense_variant V437A 1310T>C SKCM-US 11 107959385 107959385 single base substitution T C splice_region_variant SKCM-US 11 107965175 107965175 insertion of <=200bp - AAGTATCTG exon_variant SKCM-US 11 107965175 107965175 insertion of <=200bp - AAGTATCTG inframe_insertion K501KYLK SKCM-US 11 107965615 107965615 single base substitution T A exon_variant SKCM-US 11 107965615 107965615 single base substitution T A synonymous_variant P548P 1644T>A SKCM-US 11 107965645 107965645 single base substitution A T exon_variant SKCM-US 11 107965645 107965645 single base substitution A T synonymous_variant V558V 1674A>T SKCM-US 11 107966294 107966300 deletion of <=200bp AGGTAAC - exon_variant SKCM-US 11 107966294 107966300 deletion of <=200bp AGGTAAC - frameshift_variant EVT594 SKCM-US 11 107966389 107966389 single base substitution C G exon_variant SKCM-US 11 107966389 107966389 single base substitution C G missense_variant P626A 1876C>G STAD-US 11 107917013 107917013 insertion of <=200bp - A exon_variant STAD-US 11 107917013 107917013 insertion of <=200bp - A frameshift_variant C51M? STAD-US 11 107917013 107917013 insertion of <=200bp - A frameshift_variant C6M? STAD-US 11 107917013 107917013 insertion of <=200bp - A intron_variant STAD-US 11 107917050 107917050 single base substitution A G exon_variant STAD-US 11 107917050 107917050 single base substitution A G intron_variant STAD-US 11 107917050 107917050 single base substitution A G missense_variant Q18R 53A>G STAD-US 11 107917050 107917050 single base substitution A G missense_variant Q63R 188A>G STAD-US 11 107920682 107920682 single base substitution C A 3_prime_UTR_variant STAD-US 11 107920682 107920682 single base substitution C A downstream_gene_variant STAD-US 11 107920682 107920682 single base substitution C A exon_variant STAD-US 11 107920682 107920682 single base substitution C A intron_variant STAD-US 11 107920682 107920682 single base substitution C A missense_variant F100L 300C>A STAD-US 11 107920713 107920713 single base substitution T C 3_prime_UTR_variant STAD-US 11 107920713 107920713 single base substitution T C downstream_gene_variant STAD-US 11 107920713 107920713 single base substitution T C exon_variant STAD-US 11 107920713 107920713 single base substitution T C intron_variant STAD-US 11 107920713 107920713 single base substitution T C missense_variant F111L 331T>C STAD-US 11 107925631 107925631 single base substitution A T 3_prime_UTR_variant STAD-US 11 107925631 107925631 single base substitution A T downstream_gene_variant STAD-US 11 107925631 107925631 single base substitution A T exon_variant STAD-US 11 107925631 107925631 single base substitution A T missense_variant K243N 729A>T STAD-US 11 107925673 107925673 single base substitution C T 3_prime_UTR_variant STAD-US 11 107925673 107925673 single base substitution C T downstream_gene_variant STAD-US 11 107925673 107925673 single base substitution C T exon_variant STAD-US 11 107925673 107925673 single base substitution C T synonymous_variant S257S 771C>T STAD-US 11 107944205 107944207 deletion of <=200bp TTC - exon_variant STAD-US 11 107944205 107944207 deletion of <=200bp TTC - inframe_deletion FL365F STAD-US 11 107959318 107959318 single base substitution T C exon_variant STAD-US 11 107959318 107959318 single base substitution T C synonymous_variant L415L 1243T>C STAD-US 11 107960253 107960253 deletion of <=200bp T - exon_variant STAD-US 11 107960253 107960253 deletion of <=200bp T - frameshift_variant V449 STAD-US 11 107960310 107960310 single base substitution C T exon_variant STAD-US 11 107960310 107960310 single base substitution C T missense_variant A468V 1403C>T STAD-US 11 107965145 107965145 single base substitution A G exon_variant STAD-US 11 107965145 107965145 single base substitution A G missense_variant N491D 1471A>G STAD-US 11 107965548 107965548 single base substitution T C exon_variant STAD-US 11 107965548 107965548 single base substitution T C missense_variant V526A 1577T>C STAD-US 11 107965658 107965658 deletion of <=200bp A - exon_variant STAD-US 11 107965658 107965658 deletion of <=200bp A - frameshift_variant K563 STAD-US 11 107968391 107968391 single base substitution G A exon_variant STAD-US 11 107968391 107968391 single base substitution G A missense_variant R645Q 1934G>A STAD-US 11 107968446 107968446 single base substitution T C exon_variant STAD-US 11 107968446 107968446 single base substitution T C synonymous_variant G663G 1989T>C STAD-US 11 107969212 107969212 single base substitution G T exon_variant STAD-US 11 107969212 107969212 single base substitution G T stop_gained E702* 2104G>T STAD-US 11 107975052 107975052 single base substitution G A exon_variant STAD-US 11 107975052 107975052 single base substitution G A missense_variant E762K 2284G>A THCA-SA 11 107880043 107880043 single base substitution G T 5_prime_UTR_variant THCA-SA 11 107880043 107880043 single base substitution G T exon_variant THCA-SA 11 107917087 107917087 single base substitution A G exon_variant THCA-SA 11 107917087 107917087 single base substitution A G intron_variant THCA-SA 11 107917087 107917087 single base substitution A G synonymous_variant Q30Q 90A>G THCA-SA 11 107917087 107917087 single base substitution A G synonymous_variant Q75Q 225A>G THCA-SA 11 107975933 107975933 single base substitution T C 3_prime_UTR_variant THCA-SA 11 107975933 107975933 single base substitution T C intron_variant UCEC-US 11 107925453 107925453 single base substitution G T 3_prime_UTR_variant UCEC-US 11 107925453 107925453 single base substitution G T exon_variant UCEC-US 11 107925453 107925453 single base substitution G T missense_variant E107D 321G>T UCEC-US 11 107925453 107925453 single base substitution G T missense_variant E211D 633G>T UCEC-US 11 107925636 107925636 single base substitution C T 3_prime_UTR_variant UCEC-US 11 107925636 107925636 single base substitution C T downstream_gene_variant UCEC-US 11 107925636 107925636 single base substitution C T exon_variant UCEC-US 11 107925636 107925636 single base substitution C T missense_variant A245V 734C>T UCEC-US 11 107925642 107925642 single base substitution G A 3_prime_UTR_variant UCEC-US 11 107925642 107925642 single base substitution G A downstream_gene_variant UCEC-US 11 107925642 107925642 single base substitution G A exon_variant UCEC-US 11 107925642 107925642 single base substitution G A missense_variant R247H 740G>A UCEC-US 11 107925660 107925660 single base substitution G A 3_prime_UTR_variant UCEC-US 11 107925660 107925660 single base substitution G A downstream_gene_variant UCEC-US 11 107925660 107925660 single base substitution G A exon_variant UCEC-US 11 107925660 107925660 single base substitution G A missense_variant R253Q 758G>A UCEC-US 11 107943190 107943190 insertion of <=200bp - T splice_donor_variant UCEC-US 11 107943190 107943190 insertion of <=200bp - T upstream_gene_variant UCEC-US 11 107960288 107960288 single base substitution C T exon_variant UCEC-US 11 107960288 107960288 single base substitution C T missense_variant R461C 1381C>T UCEC-US 11 107965643 107965643 single base substitution G A exon_variant UCEC-US 11 107965643 107965643 single base substitution G A missense_variant V558I 1672G>A UCEC-US 11 107966303 107966303 single base substitution C T exon_variant UCEC-US 11 107966303 107966303 single base substitution C T missense_variant T597M 1790C>T UCEC-US 11 107966366 107966366 single base substitution A C exon_variant UCEC-US 11 107966366 107966366 single base substitution A C missense_variant N618T 1853A>C UCEC-US 11 107969240 107969240 single base substitution G A exon_variant UCEC-US 11 107969240 107969240 single base substitution G A missense_variant R711Q 2132G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BH-A18N-01 COSM428344 c.615A>G p.A205A Substitution - coding silent 11:108054708-108054708 + TCGA-AX-A0J1-01 COSM922648 c.734C>T p.A245V Substitution - Missense 11:108054909-108054909 + OSCC-GB_00850111 COSM4891523 c.458A>G p.N153S Substitution - Missense 11:108052706-108052706 + 18 COSM5745138 c.2025delA p.N677fs*12 Deletion - Frameshift 11:108098406-108098406 + TCGA-BS-A0UF-01 COSM922647 c.633G>T p.E211D Substitution - Missense 11:108054726-108054726 + C0045T COSM4165634 c.288A>G p.E96E Substitution - coding silent 11:108049943-108049943 + TCGA-EE-A29E-06 COSM3443110 c.220A>G p.K74E Substitution - Missense 11:108046355-108046355 + TCGA-DA-A1I5-06 COSM3443116 c.1644T>A p.P548P Substitution - coding silent 11:108094888-108094888 + TCGA-33-4566-01 COSM685610 c.1891A>T p.R631W Substitution - Missense 11:108095677-108095677 + TCGA-BR-6452-01 COSM4017575 c.188A>G p.Q63R Substitution - Missense 11:108046323-108046323 + S02292 COSM5687265 c.857A>G p.K286R Substitution - Missense 11:108070172-108070172 + ESCC_109 COSM5638849 c.1873C>T p.L625F Substitution - Missense 11:108095659-108095659 + TCGA-D5-6930-01 COSM3687074 c.6G>A p.A2A Substitution - coding silent 11:108009354-108009354 + BN05 COSM1604033 c.2296A>C p.I766L Substitution - Missense 11:108104337-108104337 + 0124_CRUK_PC_0124_T1_DNA COSM5420974 c.1577T>G p.V526G Substitution - Missense 11:108094821-108094821 + T2384 COSM4675603 c.1226C>T p.A409V Substitution - Missense 11:108088574-108088574 + TCGA-B5-A0JY-01 COSM922659 c.2132G>A p.R711Q Substitution - Missense 11:108098513-108098513 + TCGA-JX-A3Q0-01 COSM4824708 c.1967C>T p.S656L Substitution - Missense 11:108097697-108097697 + B104-0-Tumor COSM1746013 c.208C>G p.L70V Substitution - Missense 11:108046343-108046343 + PCSI_0076_Pa_X COSM3375592 c.1957C>A p.Q653K Substitution - Missense 11:108097687-108097687 + T2940 COSM2110173 c.1687delA p.N565fs*18 Deletion - Frameshift 11:108094931-108094931 + TCGA-46-6026-01 COSM685615 c.339A>G p.Q113Q Substitution - coding silent 11:108049994-108049994 + CRC-8 COSM304518 c.1123G>C p.A375P Substitution - Missense 11:108078185-108078185 + 034T COSM1728514 c.874+1G>A p.? Unknown 11:108070190-108070190 + TCGA-BG-A0LX-01 COSM922652 c.1005+1_1005+2insT p.? Unknown 11:108072463-108072464 + TCGA-DD-A73C-01 COSM4916652 c.532A>G p.I178V Substitution - Missense 11:108052780-108052780 + HCC55 COSM1604029 c.1533G>C p.K511N Substitution - Missense 11:108094480-108094480 + T3724 COSM2110173 c.1687delA p.N565fs*18 Deletion - Frameshift 11:108094931-108094931 + TCGA-AP-A05A-01 COSM922655 c.1776T>G p.D592E Substitution - Missense 11:108095562-108095562 + 1_RESISTANT COSM1718547 c.2181G>A p.K727K Substitution - coding silent 11:108104222-108104222 + HCC73T COSM1604030 c.2056A>G p.I686V Substitution - Missense 11:108098437-108098437 + Gp2D COSM2110169 c.1515T>C p.D505D Substitution - coding silent 11:108094462-108094462 + LP6008031-DNA_B01 COSM5952934 c.637_639delTTT p.F213delF Deletion - In frame 11:108054730-108054732 + pfg181T COSM2110173 c.1687delA p.N565fs*18 Deletion - Frameshift 11:108094931-108094931 + TCGA-BT-A2LA-01 COSM1297596 c.2185A>G p.I729V Substitution - Missense 11:108104226-108104226 + TCGA-AP-A051-01 COSM922653 c.1381C>T p.R461C Substitution - Missense 11:108089561-108089561 + HCC2998 COSM230687 c.1189A>C p.K397Q Substitution - Missense 11:108088537-108088537 + PD6594a COSM3719830 c.1178+1G>T p.? Unknown 11:108078241-108078241 + TCGA-GN-A266-06 COSM3443114 c.571C>T p.P191S Substitution - Missense 11:108054664-108054664 + TCGA-66-2754-01 COSM685612 c.1220T>A p.L407Q Substitution - Missense 11:108088568-108088568 + TCGA-LP-A4AV-01 COSM4825576 c.1534G>A p.E512K Substitution - Missense 11:108094481-108094481 + Gp2D COSM4626736 c.2141G>A p.R714K Substitution - Missense 11:108098522-108098522 + LUAD-S01331 COSM396363 c.426A>G p.T142T Substitution - coding silent 11:108052674-108052674 + 46M COSM1704531 c.910C>T p.P304S Substitution - Missense 11:108072367-108072367 + PD4976a COSM5774575 c.376A>G p.K126E Substitution - Missense 11:108050031-108050031 + B71 COSM1746014 c.574G>A p.E192K Substitution - Missense 11:108054667-108054667 + YUZINO COSM1704532 c.1718G>A p.W573* Substitution - Nonsense 11:108094962-108094962 + TCGA-BR-4361-01 COSM4017588 c.1989T>C p.G663G Substitution - coding silent 11:108097719-108097719 + Gp2D COSM2110162 c.1319T>C p.V440A Substitution - Missense 11:108089499-108089499 + LIM2405 COSM4613235 c.636_637insT p.Y214fs*2 Insertion - Frameshift 11:108054729-108054730 + TCGA-EE-A2MQ-06 COSM2110161 c.1310T>C p.V437A Substitution - Missense 11:108088658-108088658 + S02293 COSM5688398 c.500G>T p.R167I Substitution - Missense 11:108052748-108052748 + TCGA-AD-5900-01 COSM1350692 c.2221A>G p.I741V Substitution - Missense 11:108104262-108104262 + 8014396 COSM1158653 c.2088A>T p.T696T Substitution - coding silent 11:108098469-108098469 + TCGA-A3-3316-01 COSM466260 c.2163A>G p.Q721Q Substitution - coding silent 11:108104204-108104204 + T3024 COSM2110173 c.1687delA p.N565fs*18 Deletion - Frameshift 11:108094931-108094931 + TCGA-FP-A4BE-01 COSM4017590 c.2284G>A p.E762K Substitution - Missense 11:108104325-108104325 + BD72T COSM5512849 c.203A>T p.D68V Substitution - Missense 11:108046338-108046338 + HCC2998 COSM230687 c.1189A>C p.K397Q Substitution - Missense 11:108088537-108088537 + 8069463 COSM4406801 c.2066T>C p.I689T Substitution - Missense 11:108098447-108098447 + TCGA-AA-A010-01 COSM280230 c.660G>A p.S220S Substitution - coding silent 11:108054753-108054753 + TP_2054 COSM5558766 c.526C>A p.L176M Substitution - Missense 11:108052774-108052774 + TCGA-AP-A0LM-01 COSM1585375 c.758G>A p.R253Q Substitution - Missense 11:108054933-108054933 + RK075_C01 COSM1627749 c.900G>A p.M300I Substitution - Missense 11:108072357-108072357 + TCGA-B5-A11E-01 COSM922654 c.1672G>A p.V558I Substitution - Missense 11:108094916-108094916 + ESCC_BICR_040T COSM5429730 c.243G>C p.L81L Substitution - coding silent 11:108049898-108049898 + I2L-P10-Tumor-Organoid COSM5360472 c.1588A>C p.I530L Substitution - Missense 11:108094832-108094832 + C086 COSM2110131 c.406C>T p.R136* Substitution - Nonsense 11:108050061-108050061 + HCC46T COSM3666070 c.1774G>T p.D592Y Substitution - Missense 11:108095560-108095560 + T2950 COSM4675602 c.407G>A p.R136Q Substitution - Missense 11:108050062-108050062 + B104-0 COSM1746013 c.208C>G p.L70V Substitution - Missense 11:108046343-108046343 + S02285 COSM5684436 c.410A>C p.K137T Substitution - Missense 11:108050065-108050065 + TCGA-B5-A0JY-01 COSM922656 c.1790C>T p.T597M Substitution - Missense 11:108095576-108095576 + TCGA-BR-7722-01 COSM4017584 c.1403C>T p.A468V Substitution - Missense 11:108089583-108089583 + TCGA-BR-7707-01 COSM4017583 c.1243T>C p.L415L Substitution - coding silent 11:108088591-108088591 + 360_T COSM3979071 c.1091G>T p.R364L Substitution - Missense 11:108073475-108073475 + ICGC_0010 COSM1158653 c.2088A>T p.T696T Substitution - coding silent 11:108098469-108098469 + TCGA-EE-A2GI-06 COSM2110131 c.406C>T p.R136* Substitution - Nonsense 11:108050061-108050061 + CHC1040T COSM4799573 c.997A>G p.I333V Substitution - Missense 11:108072454-108072454 + Pat_32_A COSM5837730 c.2072G>A p.R691H Substitution - Missense 11:108098453-108098453 + PCSI_0124_Pa_P COSM3375591 c.500G>C p.R167T Substitution - Missense 11:108052748-108052748 + CHC1040T COSM4799573 c.997A>G p.I333V Substitution - Missense 11:108072454-108072454 + AOCS-080-1-9 COSM3981263 c.324A>C p.P108P Substitution - coding silent 11:108049979-108049979 + I2L-P7-Tumor-Organoid COSM5361012 c.1154T>C p.L385P Substitution - Missense 11:108078216-108078216 + HCC116T COSM1604028 c.421G>A p.D141N Substitution - Missense 11:108052669-108052669 + TCGA-BR-4184-01 COSM4017576 c.300C>A p.F100L Substitution - Missense 11:108049955-108049955 + PCSI_0124_Pa_X COSM3375591 c.500G>C p.R167T Substitution - Missense 11:108052748-108052748 + Pat_14_B COSM5837729 c.786G>A p.M262I Substitution - Missense 11:108070101-108070101 + HCC73 COSM1604030 c.2056A>G p.I686V Substitution - Missense 11:108098437-108098437 + MO_1012 COSM5565564 c.92G>A p.R31H Substitution - Missense 11:108033869-108033869 + RK308_C01 COSM3738847 c.91C>T p.R31C Substitution - Missense 11:108033868-108033868 + TCGA-BR-4257-01 COSM4017579 c.771C>T p.S257S Substitution - coding silent 11:108054946-108054946 + PT19_2 COSM5371578 c.1199C>T p.P400L Substitution - Missense 11:108088547-108088547 + YUKAT COSM5371579 c.1600G>A p.G534S Substitution - Missense 11:108094844-108094844 + TCGA-D3-A1Q5-06 COSM3443117 c.1674A>T p.V558V Substitution - coding silent 11:108094918-108094918 + B105-0 COSM1756727 c.2233A>T p.M745L Substitution - Missense 11:108104274-108104274 + TCGA-D1-A103-01 COSM922649 c.740G>A p.R247H Substitution - Missense 11:108054915-108054915 + B105-0-Tumor COSM1756727 c.2233A>T p.M745L Substitution - Missense 11:108104274-108104274 + PCSI_0090_Pa_X COSM3375636 c.242T>C p.L81P Substitution - Missense 11:108049897-108049897 + LUAD-CHTN-Z4716A COSM361619 c.2018G>T p.S673I Substitution - Missense 11:108097748-108097748 + S02093 COSM5673059 c.784A>G p.M262V Substitution - Missense 11:108070099-108070099 + TCGA-BR-8680-01 COSM4017589 c.2104G>T p.E702* Substitution - Nonsense 11:108098485-108098485 + TCGA-DK-A3X1-01 COSM3791145 c.1195C>G p.Q399E Substitution - Missense 11:108088543-108088543 + HCC116 COSM1604028 c.421G>A p.D141N Substitution - Missense 11:108052669-108052669 + TCGA-46-6026-01 COSM685616 c.256G>A p.D86N Substitution - Missense 11:108049911-108049911 + TCGA-DK-A1AC-01 COSM1297595 c.2000C>T p.S667L Substitution - Missense 11:108097730-108097730 + TCGA-C5-A1M6-01 COSM4826658 c.878T>G p.L293* Substitution - Nonsense 11:108072335-108072335 + TCGA-HU-A4GN-01 COSM4017577 c.331T>C p.F111L Substitution - Missense 11:108049986-108049986 + TCGA-D7-8572-01 COSM4017585 c.1471A>G p.N491D Substitution - Missense 11:108094418-108094418 + 8064157 COSM3383171 c.827C>G p.T276S Substitution - Missense 11:108070142-108070142 + TCGA-AY-6197-01 COSM1350687 c.1311+2T>C p.? Unknown 11:108088661-108088661 + TCGA-OL-A66J-01 COSM5831655 c.1286delA p.E429fs*23 Deletion - Frameshift 11:108088634-108088634 + RK022_C01 COSM1627750 c.2127A>T p.Q709H Substitution - Missense 11:108098508-108098508 + TCGA-ER-A19P-06 COSM3443118 c.1876C>G p.P626A Substitution - Missense 11:108095662-108095662 + AMO1 COSM1236004 c.473G>C p.S158T Substitution - Missense 11:108052721-108052721 + BRC11 COSM5027487 c.1156G>C p.E386Q Substitution - Missense 11:108078218-108078218 + TCGA-AA-3979-01 COSM297669 c.369C>T p.G123G Substitution - coding silent 11:108050024-108050024 + Gp5D COSM2110162 c.1319T>C p.V440A Substitution - Missense 11:108089499-108089499 + TCGA-CG-5721-01 COSM4017586 c.1577T>C p.V526A Substitution - Missense 11:108094821-108094821 + TCGA-AN-A046-01 COSM3808266 c.1091G>A p.R364Q Substitution - Missense 11:108073475-108073475 + TCGA-BH-A1EV-01 COSM428347 c.2256G>C p.M752I Substitution - Missense 11:108104297-108104297 + PTC-7C COSM4145206 c.1127T>G p.V376G Substitution - Missense 11:108078189-108078189 + T2269 COSM4675601 c.199G>T p.E67* Substitution - Nonsense 11:108046334-108046334 + 1_PRE-TREATMENT COSM1718547 c.2181G>A p.K727K Substitution - coding silent 11:108104222-108104222 + TCGA-D7-6528-01 COSM4017578 c.729A>T p.K243N Substitution - Missense 11:108054904-108054904 + SNU-C4 COSM2110142 c.731G>A p.R244Q Substitution - Missense 11:108054906-108054906 + HCA7 COSM2110173 c.1687delA p.N565fs*18 Deletion - Frameshift 11:108094931-108094931 + BD124T COSM922653 c.1381C>T p.R461C Substitution - Missense 11:108089561-108089561 + B71-Tumor COSM1746014 c.574G>A p.E192K Substitution - Missense 11:108054667-108054667 + TARGET-30-PASWVY COSM1284363 c.560T>G p.L187R Substitution - Missense 11:108054653-108054653 + T3262 COSM428345 c.1602C>T p.G534G Substitution - coding silent 11:108094846-108094846 + sysucc-1150T COSM5452396 c.1946T>A p.L649* Substitution - Nonsense 11:108097676-108097676 + TCGA-D3-A3MV-06 COSM3443112 c.411G>A p.K137K Substitution - coding silent 11:108050066-108050066 + TCGA-B5-A0K6-01 COSM922657 c.1836G>A p.E612E Substitution - coding silent 11:108095622-108095622 + TCGA-23-1022-01 COSM74294 c.563G>T p.C188F Substitution - Missense 11:108054656-108054656 + HT115 COSM2110193 c.2316T>C p.D772D Substitution - coding silent 11:108104357-108104357 + TCGA-AA-A00N-01 COSM274705 c.544G>T p.E182* Substitution - Nonsense 11:108052792-108052792 + Patient_1 COSM5044603 c.1630T>G p.F544V Substitution - Missense 11:108094874-108094874 + TCGA-JL-A3YW-01 COSM3808269 c.1677A>G p.E559E Substitution - coding silent 11:108094921-108094921 + TCGA-AG-3726-01 COSM290879 c.1700_1701GT>AG p.S567K Substitution - Missense 11:108094944-108094945 + D18 COSM5007312 c.860G>A p.R287K Substitution - Missense 11:108070175-108070175 + HCC55T COSM1604029 c.1533G>C p.K511N Substitution - Missense 11:108094480-108094480 + TCGA-AX-A0J0-01 COSM922658 c.1853A>C p.N618T Substitution - Missense 11:108095639-108095639 + 234 COSM3731353 c.235-10delT p.? Unknown 11:108049880-108049880 + YUKAT COSM5371578 c.1199C>T p.P400L Substitution - Missense 11:108088547-108088547 + TCGA-AN-A046-01 COSM3808268 c.1563A>G p.L521L Substitution - coding silent 11:108094510-108094510 + BN05T COSM1604033 c.2296A>C p.I766L Substitution - Missense 11:108104337-108104337 + YUDEXA COSM1704531 c.910C>T p.P304S Substitution - Missense 11:108072367-108072367 + CHC1775T COSM4800941 c.71C>G p.P24R Substitution - Missense 11:108033848-108033848 + L01 COSM5368447 c.1369C>G p.H457D Substitution - Missense 11:108089549-108089549 + TCGA-39-5030-01 COSM685614 c.553G>A p.V185I Substitution - Missense 11:108052801-108052801 + LC_S17 COSM1188383 c.733G>C p.A245P Substitution - Missense 11:108054908-108054908 + pfg068T COSM2110173 c.1687delA p.N565fs*18 Deletion - Frameshift 11:108094931-108094931 + PA285 COSM1162924 c.917G>T p.G306V Substitution - Missense 11:108072374-108072374 + TCGA-HU-A4GQ-01 COSM4017587 c.1934G>A p.R645Q Substitution - Missense 11:108097664-108097664 + 74 COSM4777831 c.1488_1489insG p.F497fs*8 Insertion - Frameshift 11:108094435-108094436 + TCGA-BW-A5NO-01 COSM4933180 c.346A>T p.I116F Substitution - Missense 11:108050001-108050001 + P00-000450 COSM243916 c.1755G>C p.K585N Substitution - Missense 11:108095541-108095541 + pfg043T COSM4759931 c.478A>C p.M160L Substitution - Missense 11:108052726-108052726 + RK035_C01 COSM1627748 c.344A>G p.E115G Substitution - Missense 11:108049999-108049999 + YUQUEST COSM5371576 c.1088C>T p.P363L Substitution - Missense 11:108073472-108073472 + HCC46 COSM3666070 c.1774G>T p.D592Y Substitution - Missense 11:108095560-108095560 + RKO COSM4614645 c.375_376insA p.S128fs*14 Insertion - Frameshift 11:108050030-108050031 + pfg019T COSM1638729 c.25-4delC p.? Unknown 11:108033798-108033798 + CCK81 COSM2110173 c.1687delA p.N565fs*18 Deletion - Frameshift 11:108094931-108094931 + CR108 COSM4994702 c.1783G>A p.V595I Substitution - Missense 11:108095569-108095569 + HCC093T COSM5810842 c.335G>T p.C112F Substitution - Missense 11:108049990-108049990 + TCGA-AN-A0AT-01 COSM428346 c.1960G>A p.V654I Substitution - Missense 11:108097690-108097690 + 1517_CLM COSM5753582 c.866A>G p.E289G Substitution - Missense 11:108070181-108070181 + CHC1775T COSM4800941 c.71C>G p.P24R Substitution - Missense 11:108033848-108033848 + RPMI-8226 COSM1676415 c.521C>T p.S174F Substitution - Missense 11:108052769-108052769 + TCGA-E2-A14N-01 COSM428345 c.1602C>T p.G534G Substitution - coding silent 11:108094846-108094846 + ME050T COSM230687 c.1189A>C p.K397Q Substitution - Missense 11:108088537-108088537 + Gp5D COSM2110169 c.1515T>C p.D505D Substitution - coding silent 11:108094462-108094462 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.440320 11q22.3 601741 2403314|CGAP|BC063306|A/G|non-coding||5148|Validated; 1529104|dbSNP|BC063306|C/G|non-coding||5089|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - AAGTATCTG Frameshift p.V502Sfs*3 c.1503_1504insAGTATCTGA 11 107965176 CM A C Missense p.K397Q c.1189A>C 11 107959264 CM - A Frameshift p.N565Kfs*3 c.1694dupA 11 107965658 PRAD A G Missense p.E115G c.344A>G 11 107920726 HC A G Missense p.I729V c.2185A>G 11 107974953 BLCA A G Synonymous p.A205A c.615A>G 11 107925435 BRCA A G Synonymous p.Q113Q c.339A>G 11 107920721 LUSC A G Synonymous p.Q721Q c.2163A>G 11 107974931 RCCC A T Missense p.K232N c.696A>T 11 107925516 HNSC A T Missense p.K243N c.729A>T 11 107925631 STAD A T Missense p.Q709H c.2127A>T 11 107969235 HC A T Synonymous p.T696T c.2088A>T 11 107969196 PAAD A T Synonymous p.V558V c.1674A>T 11 107965645 CM C G Missense p.N186K c.558C>G 11 107925378 CM C G Missense p.P626A c.1876C>G 11 107966389 CM C G Missense p.S771C c.2312C>G 11 107975080 HNSC C - IntronicDeletion . c.25-4delC 11 107904524 STAD C T 3-UTRSNV . c.2340+1340C>T 11 107976448 HC C T Nonsense p.Q14* c.40C>T 11 107904543 LUAD C T Nonsense p.Q360* c.1078C>T 11 107944189 CM C T Nonsense p.R136* c.406C>T 11 107920788 CM C T Synonymous p.G123G c.369C>T 11 107920751 COREAD C T Synonymous p.G534G c.1602C>T 11 107965573 BRCA C T Synonymous p.S257S c.771C>T 11 107925673 STAD G A Missense p.D86N c.256G>A 11 107920638 LUSC G A Missense p.G484D c.1451G>A 11 107965125 LUAD G A Missense p.M300I c.900G>A 11 107943084 HC G A Missense p.V185I c.553G>A 11 107923528 LUSC G A Missense p.V654I c.1960G>A 11 107968417 BRCA G A Synonymous p.K137K c.411G>A 11 107920793 CM G C 3-UTRSNV . c.2340+2955G>C 11 107978063 HC G C Missense p.E386Q c.1156G>C 11 107948945 BRCA G C Missense p.E71Q c.211G>C 11 107917073 LUAD G C Missense p.M752I c.2256G>C 11 107975024 BRCA G C Missense p.M752I c.2256G>C 11 107975024 LUAD GT AG Missense p.S567K c.1700_1701delinsAG 11 107965671 COREAD G T Missense p.C188F c.563G>T 11 107925383 OV G T Missense p.M1I c.3G>T 11 107880077 CM G T Nonsense p.E594* c.1780G>T 11 107966293 CM T A Missense p.L407Q c.1220T>A 11 107959295 LUSC T A Synonymous p.P548P c.1644T>A 11 107965615 CM T C Missense p.V437A c.1310T>C 11 107959385 CM T C Synonymous p.L554L c.1660T>C 11 107965631 STAD T G Missense p.L187R c.560T>G 11 107925380 NB - T SpliceDonorInsertion . c.1005+2dupT 11 107943191 UCEC