Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 6 111912951 111912951 + Silent SNP G G A TCGA-OR-A5KO-01A-11D-A29I-10 TCGA-OR-A5KO-10A-01D-A29L-10 g.chr6:111912951G>A c.366C>T c.(364-366)gtC>gtT p.V122V BLCA 6 111884237 111884237 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 g.chr6:111884237C>A c.1509G>T c.(1507-1509)caG>caT p.Q503H BLCA 6 111887764 111887764 + Splice_Site SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr6:111887764C>T c.e8-1 BLCA 6 111896845 111896845 + Splice_Site SNP C C A TCGA-PQ-A6FN-01A-11D-A31L-08 TCGA-PQ-A6FN-10A-01D-A31J-08 g.chr6:111896845C>A c.e5+1 BLCA 6 111901575 111901575 + Nonsense_Mutation SNP G G A TCGA-DK-AA6Q-01A-11D-A391-08 TCGA-DK-AA6Q-10A-01D-A394-08 g.chr6:111901575G>A c.874C>T c.(874-876)Cga>Tga p.R292* BLCA 6 111912473 111912473 + Missense_Mutation SNP G G A TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr6:111912473G>A c.844C>T c.(844-846)Cac>Tac p.H282Y BLCA 6 111912578 111912578 + Nonsense_Mutation SNP G G A TCGA-HQ-A5NE-01A-12D-A289-08 TCGA-HQ-A5NE-10A-01D-A289-08 g.chr6:111912578G>A c.739C>T c.(739-741)Cag>Tag p.Q247* BLCA 6 111912853 111912853 + Missense_Mutation SNP G G A TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr6:111912853G>A c.464C>T c.(463-465)tCa>tTa p.S155L BLCA 6 111912967 111912967 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 g.chr6:111912967G>A c.350C>T c.(349-351)tCt>tTt p.S117F BLCA 6 111913005 111913005 + Missense_Mutation SNP G G C TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr6:111913005G>C c.312C>G c.(310-312)ttC>ttG p.F104L BLCA 6 111913025 111913025 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr6:111913025C>T c.292G>A c.(292-294)Gag>Aag p.E98K BLCA 6 111913106 111913106 + Missense_Mutation SNP G G C TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr6:111913106G>C c.211C>G c.(211-213)Caa>Gaa p.Q71E BLCA 6 111913199 111913199 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr6:111913199C>T c.118G>A c.(118-120)Gaa>Aaa p.E40K BLCA 6 111913238 111913238 + Nonsense_Mutation SNP G G A TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr6:111913238G>A c.79C>T c.(79-81)Cag>Tag p.Q27* BLCA 6 111913255 111913255 + Missense_Mutation SNP G G A TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr6:111913255G>A c.62C>T c.(61-63)tCa>tTa p.S21L BRCA 6 111913188 111913188 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr6:111913188T>G c.129A>C c.(127-129)ccA>ccC p.P43P CESC 6 111912597 111912597 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr6:111912597G>C c.720C>G c.(718-720)ctC>ctG p.L240L CESC 6 111913016 111913016 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr6:111913016C>G c.301G>C c.(301-303)Gaa>Caa p.E101Q CESC 6 111913050 111913050 + Silent SNP G G C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 g.chr6:111913050G>C c.267C>G c.(265-267)gtC>gtG p.V89V CHOL 6 111912799 111912799 + Frame_Shift_Del DEL G G - TCGA-W5-AA2Q-01A-11D-A417-09 TCGA-W5-AA2Q-10A-01D-A41A-09 g.chr6:111912799delG c.518delC c.(517-519)cctfs p.P173fs COAD 6 111880659 111880660 + Frame_Shift_Ins INS - - T TCGA-CM-6165-01A-11D-1650-10 TCGA-CM-6165-10A-01D-1650-10 g.chr6:111880659_111880660insT c.1673_1674insA c.(1672-1674)tatfs p.Y558fs COAD 6 111894120 111894120 + Missense_Mutation SNP A A G TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr6:111894120A>G c.1295T>C c.(1294-1296)tTg>tCg p.L432S COAD 6 111913040 111913040 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr6:111913040G>A c.277C>T c.(277-279)Cgc>Tgc p.R93C COAD 6 111913244 111913244 + Missense_Mutation SNP G G T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr6:111913244G>T c.73C>A c.(73-75)Cca>Aca p.P25T COADREAD 6 111880659 111880660 + Frame_Shift_Ins INS - - T TCGA-CM-6165-01A-11D-1650-10 TCGA-CM-6165-10A-01D-1650-10 g.chr6:111880659_111880660insT c.1673_1674insA c.(1672-1674)tatfs p.Y558fs COADREAD 6 111880737 111880737 + Missense_Mutation SNP C C A TCGA-AG-A020-01A-21W-A096-10 TCGA-AG-A020-11A-11W-A096-10 g.chr6:111880737C>A c.1596G>T c.(1594-1596)tgG>tgT p.W532C COADREAD 6 111884188 111884188 + Missense_Mutation SNP G G C TCGA-F5-6813-01A-11D-1826-10 TCGA-F5-6813-10A-01D-1826-10 g.chr6:111884188G>C c.1558C>G c.(1558-1560)Ctc>Gtc p.L520V COADREAD 6 111894120 111894120 + Missense_Mutation SNP A A G TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr6:111894120A>G c.1295T>C c.(1294-1296)tTg>tCg p.L432S COADREAD 6 111913040 111913040 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr6:111913040G>A c.277C>T c.(277-279)Cgc>Tgc p.R93C COADREAD 6 111913115 111913115 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:111913115C>A c.202G>T c.(202-204)Gac>Tac p.D68Y COADREAD 6 111913244 111913244 + Missense_Mutation SNP G G T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr6:111913244G>T c.73C>A c.(73-75)Cca>Aca p.P25T ESCA 6 111884188 111884188 + Missense_Mutation SNP G G A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 g.chr6:111884188G>A c.1558C>T c.(1558-1560)Ctc>Ttc p.L520F ESCA 6 111887731 111887731 + Silent SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 g.chr6:111887731G>T c.1419C>A c.(1417-1419)ccC>ccA p.P473P ESCA 6 111901440 111901440 + Missense_Mutation SNP C C A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 g.chr6:111901440C>A c.1009G>T c.(1009-1011)Gca>Tca p.A337S ESCA 6 111913033 111913033 + Missense_Mutation SNP T T G TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 g.chr6:111913033T>G c.284A>C c.(283-285)cAa>cCa p.Q95P GBM 6 111912560 111912560 + Missense_Mutation SNP A A G TCGA-27-1833-01A-01W-0643-08 TCGA-27-1833-10A-01W-0644-08 g.chr6:111912560A>G c.757T>C c.(757-759)Tat>Cat p.Y253H GBMLGG 6 111887723 111887723 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:111887723T>C c.1427A>G c.(1426-1428)aAa>aGa p.K476R GBMLGG 6 111912560 111912560 + Missense_Mutation SNP A A G TCGA-27-1833-01A-01W-0643-08 TCGA-27-1833-10A-01W-0644-08 g.chr6:111912560A>G c.757T>C c.(757-759)Tat>Cat p.Y253H GBMLGG 6 111912849 111912849 + Silent SNP C C T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 g.chr6:111912849C>T c.468G>A c.(466-468)gcG>gcA p.A156A HNSC 6 111912597 111912597 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 g.chr6:111912597G>A c.720C>T c.(718-720)ctC>ctT p.L240L HNSC 6 111912799 111912799 + Missense_Mutation SNP G G C TCGA-UF-A719-01A-12D-A34J-08 TCGA-UF-A719-10A-01D-A34M-08 g.chr6:111912799G>C c.518C>G c.(517-519)cCt>cGt p.P173R HNSC 6 111913273 111913273 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 g.chr6:111913273G>A c.44C>T c.(43-45)cCt>cTt p.P15L KIPAN 6 111880633 111880633 + Missense_Mutation SNP G G T TCGA-G7-A8LB-01A-11D-A35Z-10 TCGA-G7-A8LB-10A-01D-A35Z-10 g.chr6:111880633G>T c.1700C>A c.(1699-1701)cCc>cAc p.P567H KIPAN 6 111912700 111912700 + Missense_Mutation SNP G G T TCGA-A4-7288-01A-11D-2136-08 TCGA-A4-7288-11A-01D-2136-08 g.chr6:111912700G>T c.617C>A c.(616-618)aCg>aAg p.T206K KIPAN 6 111912795 111912796 + Frame_Shift_Ins INS - - T TCGA-B0-5692-01A-11D-1534-10 TCGA-B0-5692-11A-01D-1534-10 g.chr6:111912795_111912796insT c.521_522insA c.(520-522)aatfs p.N174fs KIPAN 6 111912891 111912891 + Frame_Shift_Del DEL A A - TCGA-GL-A59R-01A-11D-A26P-10 TCGA-GL-A59R-10A-01D-A26P-10 g.chr6:111912891delA c.426delT c.(424-426)tttfs p.F142fs KIPAN 6 111913024 111913024 + Missense_Mutation SNP T T A TCGA-CZ-5454-01A-01D-1501-10 TCGA-CZ-5454-11A-01D-1501-10 g.chr6:111913024T>A c.293A>T c.(292-294)gAg>gTg p.E98V KIRC 6 111912795 111912796 + Frame_Shift_Ins INS - - T TCGA-B0-5692-01A-11D-1534-10 TCGA-B0-5692-11A-01D-1534-10 g.chr6:111912795_111912796insT c.521_522insA c.(520-522)aatfs p.N174fs KIRC 6 111913024 111913024 + Missense_Mutation SNP T T A TCGA-CZ-5454-01A-01D-1501-10 TCGA-CZ-5454-11A-01D-1501-10 g.chr6:111913024T>A c.293A>T c.(292-294)gAg>gTg p.E98V KIRP 6 111880633 111880633 + Missense_Mutation SNP G G T TCGA-G7-A8LB-01A-11D-A35Z-10 TCGA-G7-A8LB-10A-01D-A35Z-10 g.chr6:111880633G>T c.1700C>A c.(1699-1701)cCc>cAc p.P567H KIRP 6 111912700 111912700 + Missense_Mutation SNP G G T TCGA-A4-7288-01A-11D-2136-08 TCGA-A4-7288-11A-01D-2136-08 g.chr6:111912700G>T c.617C>A c.(616-618)aCg>aAg p.T206K KIRP 6 111912891 111912891 + Frame_Shift_Del DEL A A - TCGA-GL-A59R-01A-11D-A26P-10 TCGA-GL-A59R-10A-01D-A26P-10 g.chr6:111912891delA c.426delT c.(424-426)tttfs p.F142fs LGG 6 111887723 111887723 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:111887723T>C c.1427A>G c.(1426-1428)aAa>aGa p.K476R LGG 6 111912849 111912849 + Silent SNP C C T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 g.chr6:111912849C>T c.468G>A c.(466-468)gcG>gcA p.A156A LUAD 6 111896952 111896952 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr6:111896952C>G c.1122G>C c.(1120-1122)ctG>ctC p.L374L LUAD 6 111912597 111912597 + Silent SNP G G C TCGA-78-7143-01A-11D-2036-08 TCGA-78-7143-10A-01D-2036-08 g.chr6:111912597G>C c.720C>G c.(718-720)ctC>ctG p.L240L LUAD 6 111912617 111912617 + Missense_Mutation SNP G G C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 g.chr6:111912617G>C c.700C>G c.(700-702)Cag>Gag p.Q234E LUSC 6 111887689 111887689 + Silent SNP G G A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 g.chr6:111887689G>A c.1461C>T c.(1459-1461)gaC>gaT p.D487D LUSC 6 111901417 111901417 + Silent SNP C C A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 g.chr6:111901417C>A c.1032G>T c.(1030-1032)ccG>ccT p.P344P OV 6 111901531 111901531 + Silent SNP C C T TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 g.chr6:111901531C>T c.918G>A c.(916-918)caG>caA p.Q306Q OV 6 111912676 111912676 + Missense_Mutation SNP T T G TCGA-13-0905-01B-01W-0492-08 TCGA-13-0905-10A-01W-0492-08 g.chr6:111912676T>G c.641A>C c.(640-642)gAt>gCt p.D214A PAAD 6 111880692 111880693 + Frame_Shift_Ins INS - - T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 g.chr6:111880692_111880693insT c.1640_1641insA c.(1639-1641)aacfs p.N547fs PAAD 6 111880692 111880693 + Frame_Shift_Ins INS - - T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 g.chr6:111880692_111880693insT c.1640_1641insA c.(1639-1641)aacfs p.N547fs PAAD 6 111880693 111880693 + Frame_Shift_Del DEL T T - TCGA-3A-A9IB-01A-21D-A397-08 TCGA-3A-A9IB-10A-01D-A39A-08 g.chr6:111880693delT c.1640delA c.(1639-1641)aacfs p.N547fs PAAD 6 111913040 111913040 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 g.chr6:111913040G>A c.277C>T c.(277-279)Cgc>Tgc p.R93C PRAD 6 111880685 111880685 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr6:111880685G>A c.1648C>T c.(1648-1650)Ctg>Ttg p.L550L PRAD 6 111888850 111888850 + Missense_Mutation SNP A A T TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 g.chr6:111888850A>T c.1363T>A c.(1363-1365)Tgg>Agg p.W455R PRAD 6 111888871 111888871 + Nonsense_Mutation SNP G G A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 g.chr6:111888871G>A c.1342C>T c.(1342-1344)Cga>Tga p.R448* PRAD 6 111896846 111896846 + Splice_Site SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr6:111896846G>A c.1228C>T c.(1228-1230)Cgg>Tgg p.R410W PRAD 6 111912533 111912533 + Missense_Mutation SNP G G T TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 g.chr6:111912533G>T c.784C>A c.(784-786)Ccc>Acc p.P262T READ 6 111880737 111880737 + Missense_Mutation SNP C C A TCGA-AG-A020-01A-21W-A096-10 TCGA-AG-A020-11A-11W-A096-10 g.chr6:111880737C>A c.1596G>T c.(1594-1596)tgG>tgT p.W532C READ 6 111884188 111884188 + Missense_Mutation SNP G G C TCGA-F5-6813-01A-11D-1826-10 TCGA-F5-6813-10A-01D-1826-10 g.chr6:111884188G>C c.1558C>G c.(1558-1560)Ctc>Gtc p.L520V READ 6 111913115 111913115 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:111913115C>A c.202G>T c.(202-204)Gac>Tac p.D68Y

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 6 111887778 111887778 single base substitution G C downstream_gene_variant BLCA-CN 6 111887778 111887778 single base substitution G C intron_variant BLCA-CN 6 111887778 111887778 single base substitution G C upstream_gene_variant BLCA-CN 6 111912688 111912688 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BLCA-CN 6 111912688 111912688 single base substitution G C exon_variant BLCA-CN 6 111912688 111912688 single base substitution G C missense_variant S201C 602C>G BLCA-CN 6 111912688 111912688 single base substitution G C missense_variant S210C 629C>G BLCA-US 6 111912967 111912967 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 6 111912967 111912967 single base substitution G A exon_variant BLCA-US 6 111912967 111912967 single base substitution G A missense_variant S108F 323C>T BLCA-US 6 111912967 111912967 single base substitution G A missense_variant S117F 350C>T BLCA-US 6 111913025 111913025 single base substitution C T 5_prime_UTR_variant BLCA-US 6 111913025 111913025 single base substitution C T exon_variant BLCA-US 6 111913025 111913025 single base substitution C T missense_variant E89K 265G>A BLCA-US 6 111913025 111913025 single base substitution C T missense_variant E98K 292G>A BLCA-US 6 111913199 111913199 single base substitution C T 5_prime_UTR_variant BLCA-US 6 111913199 111913199 single base substitution C T exon_variant BLCA-US 6 111913199 111913199 single base substitution C T missense_variant E31K 91G>A BLCA-US 6 111913199 111913199 single base substitution C T missense_variant E40K 118G>A BRCA-EU 6 111872762 111872762 single base substitution C G downstream_gene_variant BRCA-EU 6 111873258 111873258 single base substitution G C downstream_gene_variant BRCA-EU 6 111874001 111874001 single base substitution G C downstream_gene_variant BRCA-EU 6 111875139 111875139 single base substitution T A downstream_gene_variant BRCA-EU 6 111875381 111875381 single base substitution C G downstream_gene_variant BRCA-EU 6 111875529 111875529 single base substitution G A downstream_gene_variant BRCA-EU 6 111875984 111875984 single base substitution G A downstream_gene_variant BRCA-EU 6 111876452 111876452 single base substitution A T downstream_gene_variant BRCA-EU 6 111879233 111879233 single base substitution A G 3_prime_UTR_variant BRCA-EU 6 111879233 111879233 single base substitution A G downstream_gene_variant BRCA-EU 6 111882817 111882817 single base substitution C A downstream_gene_variant BRCA-EU 6 111882817 111882817 single base substitution C A intron_variant BRCA-EU 6 111883057 111883057 single base substitution G A downstream_gene_variant BRCA-EU 6 111883057 111883057 single base substitution G A intron_variant BRCA-EU 6 111883839 111883839 single base substitution G A downstream_gene_variant BRCA-EU 6 111883839 111883839 single base substitution G A intron_variant BRCA-EU 6 111886044 111886044 single base substitution C G downstream_gene_variant BRCA-EU 6 111886044 111886044 single base substitution C G intron_variant BRCA-EU 6 111887131 111887131 single base substitution A T downstream_gene_variant BRCA-EU 6 111887131 111887131 single base substitution A T intron_variant BRCA-EU 6 111888732 111888732 single base substitution A C exon_variant BRCA-EU 6 111888732 111888732 single base substitution A C intron_variant BRCA-EU 6 111888732 111888732 single base substitution A C upstream_gene_variant BRCA-EU 6 111891413 111891413 single base substitution C A downstream_gene_variant BRCA-EU 6 111891413 111891413 single base substitution C A intron_variant BRCA-EU 6 111891413 111891413 single base substitution C A upstream_gene_variant BRCA-EU 6 111893083 111893083 single base substitution A G downstream_gene_variant BRCA-EU 6 111893083 111893083 single base substitution A G intron_variant BRCA-EU 6 111893083 111893083 single base substitution A G upstream_gene_variant BRCA-EU 6 111894669 111894669 single base substitution G T intron_variant BRCA-EU 6 111896427 111896427 single base substitution T G intron_variant BRCA-EU 6 111896427 111896427 single base substitution T G upstream_gene_variant BRCA-EU 6 111897607 111897607 single base substitution T C intron_variant BRCA-EU 6 111897607 111897607 single base substitution T C upstream_gene_variant BRCA-EU 6 111900012 111900012 single base substitution G C intron_variant BRCA-EU 6 111900012 111900012 single base substitution G C upstream_gene_variant BRCA-EU 6 111900146 111900146 single base substitution A G intron_variant BRCA-EU 6 111900146 111900146 single base substitution A G upstream_gene_variant BRCA-EU 6 111900807 111900807 single base substitution T C intron_variant BRCA-EU 6 111901684 111901684 single base substitution G C intron_variant BRCA-EU 6 111902337 111902337 single base substitution G A intron_variant BRCA-EU 6 111902657 111902657 single base substitution T C intron_variant BRCA-EU 6 111903187 111903187 insertion of <=200bp - A intron_variant BRCA-EU 6 111907256 111907256 insertion of <=200bp - A intron_variant BRCA-EU 6 111909853 111909853 single base substitution A G intron_variant BRCA-EU 6 111909881 111909881 single base substitution T C intron_variant BRCA-EU 6 111910103 111910103 single base substitution G C intron_variant BRCA-EU 6 111911754 111911754 deletion of <=200bp T - intron_variant BRCA-EU 6 111912056 111912056 single base substitution A C intron_variant BRCA-EU 6 111913257 111913257 single base substitution T C 5_prime_UTR_variant BRCA-EU 6 111913257 111913257 single base substitution T C exon_variant BRCA-EU 6 111913257 111913257 single base substitution T C synonymous_variant E11E 33A>G BRCA-EU 6 111913257 111913257 single base substitution T C synonymous_variant E20E 60A>G BRCA-EU 6 111913412 111913412 deletion of <=200bp C - intron_variant BRCA-EU 6 111915195 111915195 single base substitution G A intron_variant BRCA-EU 6 111918699 111918700 deletion of <=200bp AT - intron_variant BRCA-EU 6 111919316 111919316 deletion of <=200bp C - intron_variant BRCA-EU 6 111919370 111919424 deletion of <=200bp GTATTTTTGTTTATTGTATGTAAAATACTAGTGTATTTTTGTTTAAGTCTCACAG - intron_variant BRCA-EU 6 111919575 111919575 single base substitution G A intron_variant BRCA-EU 6 111920903 111920903 single base substitution G A intron_variant BRCA-EU 6 111921288 111921288 single base substitution G A intron_variant BRCA-EU 6 111921418 111921418 single base substitution G C intron_variant BRCA-EU 6 111922880 111922880 single base substitution C T intron_variant BRCA-EU 6 111925476 111925476 single base substitution C T intron_variant BRCA-EU 6 111926736 111926736 single base substitution A T intron_variant BRCA-EU 6 111927174 111927174 single base substitution G C 5_prime_UTR_variant BRCA-EU 6 111927174 111927174 single base substitution G C upstream_gene_variant BRCA-EU 6 111927819 111927819 insertion of <=200bp - G upstream_gene_variant BRCA-EU 6 111929151 111929151 single base substitution C T upstream_gene_variant BRCA-EU 6 111929820 111929820 single base substitution C G upstream_gene_variant BRCA-EU 6 111931324 111931324 single base substitution G A upstream_gene_variant BRCA-EU 6 111931590 111931590 single base substitution G C upstream_gene_variant BRCA-FR 6 111883057 111883057 single base substitution G A downstream_gene_variant BRCA-FR 6 111883057 111883057 single base substitution G A intron_variant BRCA-FR 6 111919694 111919694 single base substitution A G intron_variant BRCA-FR 6 111920903 111920903 single base substitution G A intron_variant BRCA-FR 6 111921288 111921288 single base substitution G A intron_variant BRCA-US 6 111913188 111913188 single base substitution T G 5_prime_UTR_variant BRCA-US 6 111913188 111913188 single base substitution T G exon_variant BRCA-US 6 111913188 111913188 single base substitution T G synonymous_variant P34P 102A>C BRCA-US 6 111913188 111913188 single base substitution T G synonymous_variant P43P 129A>C BTCA-JP 6 111915748 111915748 insertion of <=200bp - A intron_variant BTCA-JP 6 111919028 111919028 deletion of <=200bp T - intron_variant BTCA-JP 6 111922607 111922607 single base substitution A G intron_variant CESC-US 6 111912597 111912597 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant CESC-US 6 111912597 111912597 single base substitution G C exon_variant CESC-US 6 111912597 111912597 single base substitution G C synonymous_variant L231L 693C>G CESC-US 6 111912597 111912597 single base substitution G C synonymous_variant L240L 720C>G CESC-US 6 111913016 111913016 single base substitution C G 5_prime_UTR_variant CESC-US 6 111913016 111913016 single base substitution C G exon_variant CESC-US 6 111913016 111913016 single base substitution C G missense_variant E101Q 301G>C CESC-US 6 111913016 111913016 single base substitution C G missense_variant E92Q 274G>C CESC-US 6 111913050 111913050 single base substitution G C 5_prime_UTR_variant CESC-US 6 111913050 111913050 single base substitution G C exon_variant CESC-US 6 111913050 111913050 single base substitution G C synonymous_variant V80V 240C>G CESC-US 6 111913050 111913050 single base substitution G C synonymous_variant V89V 267C>G CLLE-ES 6 111918607 111918607 single base substitution G C intron_variant COAD-US 6 111880659 111880659 insertion of <=200bp - T downstream_gene_variant COAD-US 6 111880659 111880659 insertion of <=200bp - T exon_variant COAD-US 6 111880659 111880659 insertion of <=200bp - T frameshift_variant Y137Y? COAD-US 6 111880659 111880659 insertion of <=200bp - T frameshift_variant Y548Y? COAD-US 6 111880659 111880659 insertion of <=200bp - T frameshift_variant Y549Y? COAD-US 6 111880659 111880659 insertion of <=200bp - T frameshift_variant Y558Y? COAD-US 6 111880659 111880659 insertion of <=200bp - T frameshift_variant Y93Y? COAD-US 6 111913070 111913070 single base substitution G A 5_prime_UTR_variant COAD-US 6 111913070 111913070 single base substitution G A exon_variant COAD-US 6 111913070 111913070 single base substitution G A missense_variant R74W 220C>T COAD-US 6 111913070 111913070 single base substitution G A missense_variant R83W 247C>T COAD-US 6 111913262 111913262 single base substitution C T 5_prime_UTR_variant COAD-US 6 111913262 111913262 single base substitution C T exon_variant COAD-US 6 111913262 111913262 single base substitution C T missense_variant D10N 28G>A COAD-US 6 111913262 111913262 single base substitution C T missense_variant D19N 55G>A COCA-CN 6 111888849 111888849 single base substitution C A exon_variant COCA-CN 6 111888849 111888849 single base substitution C A missense_variant W34L 101G>T COCA-CN 6 111888849 111888849 single base substitution C A missense_variant W446L 1337G>T COCA-CN 6 111888849 111888849 single base substitution C A missense_variant W455L 1364G>T COCA-CN 6 111888849 111888849 single base substitution C A upstream_gene_variant COCA-CN 6 111915008 111915008 single base substitution C A intron_variant COCA-CN 6 111926334 111926334 single base substitution T C intron_variant EOPC-DE 6 111875514 111875514 single base substitution G A downstream_gene_variant ESAD-UK 6 111873162 111873162 single base substitution G C downstream_gene_variant ESAD-UK 6 111874077 111874077 single base substitution T C downstream_gene_variant ESAD-UK 6 111874392 111874392 single base substitution G T downstream_gene_variant ESAD-UK 6 111874659 111874659 single base substitution G A downstream_gene_variant ESAD-UK 6 111875287 111875287 single base substitution C T downstream_gene_variant ESAD-UK 6 111875308 111875309 deletion of <=200bp TG - downstream_gene_variant ESAD-UK 6 111877417 111877417 insertion of <=200bp - GT downstream_gene_variant ESAD-UK 6 111878217 111878217 single base substitution C G 3_prime_UTR_variant ESAD-UK 6 111878217 111878217 single base substitution C G downstream_gene_variant ESAD-UK 6 111879727 111879727 single base substitution C T 3_prime_UTR_variant ESAD-UK 6 111879727 111879727 single base substitution C T downstream_gene_variant ESAD-UK 6 111882226 111882226 single base substitution C T downstream_gene_variant ESAD-UK 6 111882226 111882226 single base substitution C T intron_variant ESAD-UK 6 111886861 111886861 single base substitution C T downstream_gene_variant ESAD-UK 6 111886861 111886861 single base substitution C T intron_variant ESAD-UK 6 111887487 111887487 single base substitution G A downstream_gene_variant ESAD-UK 6 111887487 111887487 single base substitution G A intron_variant ESAD-UK 6 111891144 111891144 single base substitution T C downstream_gene_variant ESAD-UK 6 111891144 111891144 single base substitution T C intron_variant ESAD-UK 6 111891144 111891144 single base substitution T C upstream_gene_variant ESAD-UK 6 111894289 111894289 single base substitution G A intron_variant ESAD-UK 6 111895591 111895591 single base substitution G A intron_variant ESAD-UK 6 111895591 111895591 single base substitution G A upstream_gene_variant ESAD-UK 6 111896085 111896085 single base substitution A G intron_variant ESAD-UK 6 111896085 111896085 single base substitution A G upstream_gene_variant ESAD-UK 6 111896195 111896195 single base substitution C T intron_variant ESAD-UK 6 111896195 111896195 single base substitution C T upstream_gene_variant ESAD-UK 6 111898230 111898230 single base substitution T C intron_variant ESAD-UK 6 111898230 111898230 single base substitution T C upstream_gene_variant ESAD-UK 6 111899803 111899803 single base substitution G A intron_variant ESAD-UK 6 111899803 111899803 single base substitution G A upstream_gene_variant ESAD-UK 6 111901143 111901143 single base substitution G A intron_variant ESAD-UK 6 111906305 111906305 single base substitution C G intron_variant ESAD-UK 6 111911084 111911084 single base substitution C G intron_variant ESAD-UK 6 111912484 111912484 single base substitution C T 5_prime_UTR_variant ESAD-UK 6 111912484 111912484 single base substitution C T exon_variant ESAD-UK 6 111912484 111912484 single base substitution C T missense_variant G269E 806G>A ESAD-UK 6 111912484 111912484 single base substitution C T missense_variant G278E 833G>A ESAD-UK 6 111913070 111913070 single base substitution G A 5_prime_UTR_variant ESAD-UK 6 111913070 111913070 single base substitution G A exon_variant ESAD-UK 6 111913070 111913070 single base substitution G A missense_variant R74W 220C>T ESAD-UK 6 111913070 111913070 single base substitution G A missense_variant R83W 247C>T ESAD-UK 6 111913707 111913707 single base substitution T A intron_variant ESAD-UK 6 111913883 111913883 single base substitution T A intron_variant ESAD-UK 6 111915449 111915449 single base substitution A T intron_variant ESAD-UK 6 111917904 111917904 single base substitution G A intron_variant ESAD-UK 6 111919064 111919064 single base substitution G T intron_variant ESAD-UK 6 111919728 111919728 single base substitution T C intron_variant ESAD-UK 6 111921615 111921615 single base substitution C A intron_variant ESAD-UK 6 111926527 111926527 single base substitution C T intron_variant ESAD-UK 6 111927209 111927209 single base substitution C T 5_prime_UTR_variant ESAD-UK 6 111927209 111927209 single base substitution C T upstream_gene_variant ESAD-UK 6 111927576 111927576 single base substitution G T upstream_gene_variant ESAD-UK 6 111928114 111928114 insertion of <=200bp - AG upstream_gene_variant ESAD-UK 6 111929296 111929296 single base substitution C A upstream_gene_variant ESAD-UK 6 111932384 111932384 single base substitution C T upstream_gene_variant GBM-US 6 111912560 111912560 single base substitution A G 5_prime_UTR_variant GBM-US 6 111912560 111912560 single base substitution A G exon_variant GBM-US 6 111912560 111912560 single base substitution A G missense_variant Y244H 730T>C GBM-US 6 111912560 111912560 single base substitution A G missense_variant Y253H 757T>C KIRC-US 6 111912795 111912795 insertion of <=200bp - T 5_prime_UTR_variant KIRC-US 6 111912795 111912795 insertion of <=200bp - T exon_variant KIRC-US 6 111912795 111912795 insertion of <=200bp - T frameshift_variant N165N? KIRC-US 6 111912795 111912795 insertion of <=200bp - T frameshift_variant N174N? KIRC-US 6 111913024 111913024 single base substitution T A 5_prime_UTR_variant KIRC-US 6 111913024 111913024 single base substitution T A exon_variant KIRC-US 6 111913024 111913024 single base substitution T A missense_variant E89V 266A>T KIRC-US 6 111913024 111913024 single base substitution T A missense_variant E98V 293A>T KIRP-US 6 111912700 111912700 single base substitution G T 5_prime_UTR_variant KIRP-US 6 111912700 111912700 single base substitution G T exon_variant KIRP-US 6 111912700 111912700 single base substitution G T missense_variant T197K 590C>A KIRP-US 6 111912700 111912700 single base substitution G T missense_variant T206K 617C>A KIRP-US 6 111912891 111912891 deletion of <=200bp A - 5_prime_UTR_variant KIRP-US 6 111912891 111912891 deletion of <=200bp A - exon_variant KIRP-US 6 111912891 111912891 deletion of <=200bp A - frameshift_variant F133 KIRP-US 6 111912891 111912891 deletion of <=200bp A - frameshift_variant F142 LAML-KR 6 111896777 111896777 single base substitution C T intron_variant LAML-KR 6 111896777 111896777 single base substitution C T upstream_gene_variant LICA-FR 6 111910275 111910275 insertion of <=200bp - T intron_variant LICA-FR 6 111917031 111917032 deletion of <=200bp AA - intron_variant LICA-FR 6 111918845 111918845 single base substitution T C intron_variant LINC-JP 6 111884681 111884681 single base substitution A G downstream_gene_variant LINC-JP 6 111884681 111884681 single base substitution A G intron_variant LINC-JP 6 111886914 111886914 single base substitution G A downstream_gene_variant LINC-JP 6 111886914 111886914 single base substitution G A intron_variant LINC-JP 6 111888844 111888844 single base substitution C T exon_variant LINC-JP 6 111888844 111888844 single base substitution C T missense_variant E36K 106G>A LINC-JP 6 111888844 111888844 single base substitution C T missense_variant E448K 1342G>A LINC-JP 6 111888844 111888844 single base substitution C T missense_variant E457K 1369G>A LINC-JP 6 111888844 111888844 single base substitution C T upstream_gene_variant LINC-JP 6 111889062 111889062 single base substitution T C downstream_gene_variant LINC-JP 6 111889062 111889062 single base substitution T C intron_variant LINC-JP 6 111889062 111889062 single base substitution T C upstream_gene_variant LINC-JP 6 111894801 111894805 deletion of <=200bp TTGAA - exon_variant LINC-JP 6 111894801 111894805 deletion of <=200bp TTGAA - intron_variant LINC-JP 6 111894867 111894880 deletion of <=200bp CTTAGAGCAGCAGA - exon_variant LINC-JP 6 111894867 111894880 deletion of <=200bp CTTAGAGCAGCAGA - intron_variant LINC-JP 6 111901204 111901204 single base substitution T C intron_variant LINC-JP 6 111905139 111905139 single base substitution G T intron_variant LINC-JP 6 111911291 111911291 deletion of <=200bp A - intron_variant LINC-JP 6 111912298 111912298 single base substitution T C intron_variant LINC-JP 6 111912972 111912972 single base substitution G T 5_prime_UTR_variant LINC-JP 6 111912972 111912972 single base substitution G T exon_variant LINC-JP 6 111912972 111912972 single base substitution G T missense_variant F106L 318C>A LINC-JP 6 111912972 111912972 single base substitution G T missense_variant F115L 345C>A LINC-JP 6 111913193 111913193 single base substitution C G 5_prime_UTR_variant LINC-JP 6 111913193 111913193 single base substitution C G exon_variant LINC-JP 6 111913193 111913193 single base substitution C G missense_variant E33Q 97G>C LINC-JP 6 111913193 111913193 single base substitution C G missense_variant E42Q 124G>C LINC-JP 6 111915483 111915483 single base substitution G T intron_variant LINC-JP 6 111915559 111915559 single base substitution T G intron_variant LINC-JP 6 111915624 111915624 single base substitution T C intron_variant LIRI-JP 6 111873455 111873455 single base substitution T C downstream_gene_variant LIRI-JP 6 111874603 111874603 single base substitution C A downstream_gene_variant LIRI-JP 6 111885200 111885200 single base substitution A C downstream_gene_variant LIRI-JP 6 111885200 111885200 single base substitution A C intron_variant LIRI-JP 6 111888864 111888864 single base substitution A G exon_variant LIRI-JP 6 111888864 111888864 single base substitution A G missense_variant I29T 86T>C LIRI-JP 6 111888864 111888864 single base substitution A G missense_variant I441T 1322T>C LIRI-JP 6 111888864 111888864 single base substitution A G missense_variant I450T 1349T>C LIRI-JP 6 111888864 111888864 single base substitution A G upstream_gene_variant LIRI-JP 6 111889742 111889742 single base substitution T C downstream_gene_variant LIRI-JP 6 111889742 111889742 single base substitution T C intron_variant LIRI-JP 6 111889742 111889742 single base substitution T C upstream_gene_variant LIRI-JP 6 111891924 111891924 single base substitution G C downstream_gene_variant LIRI-JP 6 111891924 111891924 single base substitution G C intron_variant LIRI-JP 6 111891924 111891924 single base substitution G C upstream_gene_variant LIRI-JP 6 111892972 111892972 single base substitution A G downstream_gene_variant LIRI-JP 6 111892972 111892972 single base substitution A G intron_variant LIRI-JP 6 111892972 111892972 single base substitution A G upstream_gene_variant LIRI-JP 6 111896000 111896000 single base substitution C A intron_variant LIRI-JP 6 111896000 111896000 single base substitution C A upstream_gene_variant LIRI-JP 6 111896976 111896976 single base substitution C A 5_prime_UTR_variant LIRI-JP 6 111896976 111896976 single base substitution C A exon_variant LIRI-JP 6 111896976 111896976 single base substitution C A missense_variant E357D 1071G>T LIRI-JP 6 111896976 111896976 single base substitution C A missense_variant E366D 1098G>T LIRI-JP 6 111896976 111896976 single base substitution C A upstream_gene_variant LIRI-JP 6 111897894 111897894 single base substitution T C intron_variant LIRI-JP 6 111897894 111897894 single base substitution T C upstream_gene_variant LIRI-JP 6 111898957 111898957 single base substitution C T intron_variant LIRI-JP 6 111898957 111898957 single base substitution C T upstream_gene_variant LIRI-JP 6 111902006 111902006 single base substitution A G intron_variant LIRI-JP 6 111904937 111904937 single base substitution A C intron_variant LIRI-JP 6 111904942 111904942 single base substitution A G intron_variant LIRI-JP 6 111906193 111906193 single base substitution C T intron_variant LIRI-JP 6 111906204 111906204 single base substitution T C intron_variant LIRI-JP 6 111907793 111907793 single base substitution A C intron_variant LIRI-JP 6 111912798 111912798 single base substitution A C 5_prime_UTR_variant LIRI-JP 6 111912798 111912798 single base substitution A C exon_variant LIRI-JP 6 111912798 111912798 single base substitution A C synonymous_variant P164P 492T>G LIRI-JP 6 111912798 111912798 single base substitution A C synonymous_variant P173P 519T>G LIRI-JP 6 111913039 111913039 single base substitution C T 5_prime_UTR_variant LIRI-JP 6 111913039 111913039 single base substitution C T exon_variant LIRI-JP 6 111913039 111913039 single base substitution C T missense_variant R84H 251G>A LIRI-JP 6 111913039 111913039 single base substitution C T missense_variant R93H 278G>A LIRI-JP 6 111913363 111913363 single base substitution G C intron_variant LIRI-JP 6 111916142 111916142 single base substitution A G intron_variant LIRI-JP 6 111917988 111917988 single base substitution G T intron_variant LIRI-JP 6 111919702 111919702 single base substitution T G intron_variant LIRI-JP 6 111921803 111921803 single base substitution A G intron_variant LIRI-JP 6 111923204 111923204 single base substitution C T intron_variant LIRI-JP 6 111923775 111923775 single base substitution T C intron_variant LIRI-JP 6 111925104 111925104 single base substitution A G intron_variant LIRI-JP 6 111926310 111926311 deletion of <=200bp TA - intron_variant LIRI-JP 6 111928515 111928515 single base substitution A G upstream_gene_variant LUSC-KR 6 111873342 111873342 single base substitution C T downstream_gene_variant LUSC-KR 6 111876998 111876998 single base substitution C G downstream_gene_variant LUSC-KR 6 111877364 111877364 single base substitution C T downstream_gene_variant LUSC-KR 6 111877880 111877880 single base substitution C G 3_prime_UTR_variant LUSC-KR 6 111877880 111877880 single base substitution C G downstream_gene_variant LUSC-KR 6 111877921 111877921 single base substitution C T 3_prime_UTR_variant LUSC-KR 6 111877921 111877921 single base substitution C T downstream_gene_variant LUSC-KR 6 111878651 111878651 single base substitution G T 3_prime_UTR_variant LUSC-KR 6 111878651 111878651 single base substitution G T downstream_gene_variant LUSC-KR 6 111878884 111878884 single base substitution C T 3_prime_UTR_variant LUSC-KR 6 111878884 111878884 single base substitution C T downstream_gene_variant LUSC-KR 6 111879278 111879278 single base substitution C T 3_prime_UTR_variant LUSC-KR 6 111879278 111879278 single base substitution C T downstream_gene_variant LUSC-KR 6 111882253 111882253 single base substitution C T downstream_gene_variant LUSC-KR 6 111882253 111882253 single base substitution C T intron_variant LUSC-KR 6 111882858 111882858 single base substitution G C downstream_gene_variant LUSC-KR 6 111882858 111882858 single base substitution G C intron_variant LUSC-KR 6 111883025 111883025 single base substitution G C downstream_gene_variant LUSC-KR 6 111883025 111883025 single base substitution G C intron_variant LUSC-KR 6 111895785 111895785 single base substitution G A intron_variant LUSC-KR 6 111895785 111895785 single base substitution G A upstream_gene_variant LUSC-KR 6 111897971 111897971 single base substitution G A intron_variant LUSC-KR 6 111897971 111897971 single base substitution G A upstream_gene_variant LUSC-KR 6 111901022 111901022 single base substitution A G intron_variant LUSC-KR 6 111907086 111907086 single base substitution G T intron_variant LUSC-KR 6 111909691 111909691 single base substitution G A intron_variant LUSC-KR 6 111912578 111912578 single base substitution G A 5_prime_UTR_variant LUSC-KR 6 111912578 111912578 single base substitution G A exon_variant LUSC-KR 6 111912578 111912578 single base substitution G A stop_gained Q238* 712C>T LUSC-KR 6 111912578 111912578 single base substitution G A stop_gained Q247* 739C>T LUSC-KR 6 111913514 111913514 single base substitution G A intron_variant LUSC-KR 6 111914735 111914735 single base substitution C T intron_variant LUSC-KR 6 111915350 111915350 single base substitution T A intron_variant LUSC-KR 6 111922713 111922713 single base substitution T A intron_variant LUSC-KR 6 111922799 111922799 single base substitution C T intron_variant LUSC-KR 6 111929442 111929442 single base substitution T A upstream_gene_variant LUSC-US 6 111887689 111887689 single base substitution G A downstream_gene_variant LUSC-US 6 111887689 111887689 single base substitution G A exon_variant LUSC-US 6 111887689 111887689 single base substitution G A synonymous_variant D22D 66C>T LUSC-US 6 111887689 111887689 single base substitution G A synonymous_variant D477D 1431C>T LUSC-US 6 111887689 111887689 single base substitution G A synonymous_variant D478D 1434C>T LUSC-US 6 111887689 111887689 single base substitution G A synonymous_variant D487D 1461C>T LUSC-US 6 111887689 111887689 single base substitution G A synonymous_variant D66D 198C>T LUSC-US 6 111901417 111901417 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LUSC-US 6 111901417 111901417 single base substitution C A exon_variant LUSC-US 6 111901417 111901417 single base substitution C A synonymous_variant P335P 1005G>T LUSC-US 6 111901417 111901417 single base substitution C A synonymous_variant P344P 1032G>T MALY-DE 6 111876562 111876562 single base substitution G A downstream_gene_variant MALY-DE 6 111877417 111877418 deletion of <=200bp GT - downstream_gene_variant MALY-DE 6 111885368 111885369 deletion of <=200bp CA - downstream_gene_variant MALY-DE 6 111885368 111885369 deletion of <=200bp CA - intron_variant MALY-DE 6 111886935 111886935 single base substitution G A downstream_gene_variant MALY-DE 6 111886935 111886935 single base substitution G A intron_variant MALY-DE 6 111895935 111895935 single base substitution G A intron_variant MALY-DE 6 111895935 111895935 single base substitution G A upstream_gene_variant MALY-DE 6 111901529 111901529 single base substitution G A 5_prime_UTR_variant MALY-DE 6 111901529 111901529 single base substitution G A exon_variant MALY-DE 6 111901529 111901529 single base substitution G A missense_variant P298L 893C>T MALY-DE 6 111901529 111901529 single base substitution G A missense_variant P307L 920C>T MALY-DE 6 111902647 111902647 single base substitution G A intron_variant MALY-DE 6 111919643 111919643 single base substitution C G intron_variant MELA-AU 6 111873463 111873464 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 6 111873717 111873717 single base substitution G A downstream_gene_variant MELA-AU 6 111873921 111873921 single base substitution G A downstream_gene_variant MELA-AU 6 111874352 111874352 single base substitution G A downstream_gene_variant MELA-AU 6 111875378 111875378 single base substitution C T downstream_gene_variant MELA-AU 6 111876292 111876292 single base substitution C T downstream_gene_variant MELA-AU 6 111877209 111877210 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 6 111877666 111877666 single base substitution T C 3_prime_UTR_variant MELA-AU 6 111877666 111877666 single base substitution T C downstream_gene_variant MELA-AU 6 111881060 111881060 single base substitution G T downstream_gene_variant MELA-AU 6 111881060 111881060 single base substitution G T intron_variant MELA-AU 6 111881110 111881110 single base substitution C T downstream_gene_variant MELA-AU 6 111881110 111881110 single base substitution C T intron_variant MELA-AU 6 111884181 111884181 single base substitution G A downstream_gene_variant MELA-AU 6 111884181 111884181 single base substitution G A exon_variant MELA-AU 6 111884181 111884181 single base substitution G A intron_variant MELA-AU 6 111884181 111884181 single base substitution G A missense_variant P101L 302C>T MELA-AU 6 111884181 111884181 single base substitution G A missense_variant P512L 1535C>T MELA-AU 6 111884181 111884181 single base substitution G A missense_variant P513L 1538C>T MELA-AU 6 111884181 111884181 single base substitution G A missense_variant P522L 1565C>T MELA-AU 6 111884181 111884181 single base substitution G A missense_variant P57L 170C>T MELA-AU 6 111886219 111886219 single base substitution T A downstream_gene_variant MELA-AU 6 111886219 111886219 single base substitution T A intron_variant MELA-AU 6 111890081 111890081 single base substitution C T downstream_gene_variant MELA-AU 6 111890081 111890081 single base substitution C T intron_variant MELA-AU 6 111890081 111890081 single base substitution C T upstream_gene_variant MELA-AU 6 111890226 111890226 single base substitution G A downstream_gene_variant MELA-AU 6 111890226 111890226 single base substitution G A intron_variant MELA-AU 6 111890226 111890226 single base substitution G A upstream_gene_variant MELA-AU 6 111890515 111890515 single base substitution G A downstream_gene_variant MELA-AU 6 111890515 111890515 single base substitution G A intron_variant MELA-AU 6 111890515 111890515 single base substitution G A upstream_gene_variant MELA-AU 6 111891298 111891298 single base substitution C T downstream_gene_variant MELA-AU 6 111891298 111891298 single base substitution C T intron_variant MELA-AU 6 111891298 111891298 single base substitution C T upstream_gene_variant MELA-AU 6 111893206 111893206 single base substitution T C downstream_gene_variant MELA-AU 6 111893206 111893206 single base substitution T C intron_variant MELA-AU 6 111893206 111893206 single base substitution T C upstream_gene_variant MELA-AU 6 111894020 111894021 deletion of <=200bp AC - exon_variant MELA-AU 6 111894020 111894021 deletion of <=200bp AC - intron_variant MELA-AU 6 111895106 111895107 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 6 111895106 111895107 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 111896355 111896355 single base substitution A G intron_variant MELA-AU 6 111896355 111896355 single base substitution A G upstream_gene_variant MELA-AU 6 111896567 111896568 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 6 111896567 111896568 multiple base substitution (>=2bp and <=200bp) GG TA upstream_gene_variant MELA-AU 6 111898692 111898693 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 111898692 111898693 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 6 111899868 111899868 single base substitution G A intron_variant MELA-AU 6 111899868 111899868 single base substitution G A upstream_gene_variant MELA-AU 6 111902027 111902027 single base substitution C T intron_variant MELA-AU 6 111903613 111903613 single base substitution G C intron_variant MELA-AU 6 111905150 111905150 single base substitution G T intron_variant MELA-AU 6 111906123 111906123 single base substitution C T intron_variant MELA-AU 6 111907767 111907767 single base substitution C T intron_variant MELA-AU 6 111909100 111909100 single base substitution T A intron_variant MELA-AU 6 111909551 111909551 single base substitution A C intron_variant MELA-AU 6 111909554 111909554 single base substitution G C intron_variant MELA-AU 6 111911433 111911433 single base substitution G A intron_variant MELA-AU 6 111911926 111911926 single base substitution C T intron_variant MELA-AU 6 111912006 111912006 single base substitution T A intron_variant MELA-AU 6 111912243 111912243 single base substitution G A intron_variant MELA-AU 6 111912451 111912451 single base substitution G A intron_variant MELA-AU 6 111913085 111913085 single base substitution G A 5_prime_UTR_variant MELA-AU 6 111913085 111913085 single base substitution G A exon_variant MELA-AU 6 111913085 111913085 single base substitution G A missense_variant L69F 205C>T MELA-AU 6 111913085 111913085 single base substitution G A missense_variant L78F 232C>T MELA-AU 6 111914399 111914399 single base substitution C T intron_variant MELA-AU 6 111914494 111914495 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 111919834 111919834 single base substitution C A intron_variant MELA-AU 6 111920330 111920330 single base substitution C T intron_variant MELA-AU 6 111920596 111920596 single base substitution A T intron_variant MELA-AU 6 111922180 111922180 single base substitution C G intron_variant MELA-AU 6 111924570 111924570 single base substitution A G intron_variant MELA-AU 6 111926385 111926385 single base substitution T C intron_variant MELA-AU 6 111927911 111927911 single base substitution G A upstream_gene_variant MELA-AU 6 111929263 111929263 single base substitution G A upstream_gene_variant MELA-AU 6 111929308 111929309 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 6 111929320 111929321 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 6 111929446 111929446 single base substitution C T upstream_gene_variant MELA-AU 6 111930148 111930148 single base substitution G A upstream_gene_variant MELA-AU 6 111930271 111930271 single base substitution C T upstream_gene_variant MELA-AU 6 111930904 111930904 single base substitution C T upstream_gene_variant MELA-AU 6 111931064 111931064 single base substitution C T upstream_gene_variant MELA-AU 6 111931144 111931144 single base substitution G A upstream_gene_variant MELA-AU 6 111931573 111931573 single base substitution T G upstream_gene_variant MELA-AU 6 111931931 111931931 single base substitution C T upstream_gene_variant MELA-AU 6 111931954 111931954 single base substitution G A upstream_gene_variant MELA-AU 6 111932019 111932019 single base substitution G A upstream_gene_variant ORCA-IN 6 111897019 111897019 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant ORCA-IN 6 111897019 111897019 single base substitution T A exon_variant ORCA-IN 6 111897019 111897019 single base substitution T A missense_variant Q343L 1028A>T ORCA-IN 6 111897019 111897019 single base substitution T A missense_variant Q352L 1055A>T ORCA-IN 6 111897019 111897019 single base substitution T A upstream_gene_variant ORCA-IN 6 111916731 111916731 single base substitution G C intron_variant OV-AU 6 111873533 111873533 single base substitution C T downstream_gene_variant OV-AU 6 111875139 111875139 single base substitution T A downstream_gene_variant OV-AU 6 111876218 111876218 single base substitution G C downstream_gene_variant OV-AU 6 111877819 111877819 single base substitution C T 3_prime_UTR_variant OV-AU 6 111877819 111877819 single base substitution C T downstream_gene_variant OV-AU 6 111882190 111882190 single base substitution G C downstream_gene_variant OV-AU 6 111882190 111882190 single base substitution G C intron_variant OV-AU 6 111905295 111905295 single base substitution C A intron_variant OV-AU 6 111915009 111915009 single base substitution C T intron_variant OV-AU 6 111925565 111925565 single base substitution C T intron_variant OV-AU 6 111929743 111929743 single base substitution C A upstream_gene_variant PACA-AU 6 111874670 111874670 single base substitution G A downstream_gene_variant PACA-AU 6 111881284 111881284 single base substitution G A downstream_gene_variant PACA-AU 6 111881284 111881284 single base substitution G A intron_variant PACA-AU 6 111899955 111899955 single base substitution G C intron_variant PACA-AU 6 111899955 111899955 single base substitution G C upstream_gene_variant PACA-AU 6 111902613 111902613 single base substitution A T intron_variant PACA-AU 6 111909219 111909219 single base substitution C A intron_variant PACA-AU 6 111911380 111911380 single base substitution G A intron_variant PACA-AU 6 111915667 111915667 single base substitution G A intron_variant PACA-AU 6 111915668 111915668 single base substitution C G intron_variant PACA-AU 6 111919782 111919782 single base substitution A G intron_variant PACA-CA 6 111873885 111873885 single base substitution C A downstream_gene_variant PACA-CA 6 111878373 111878373 single base substitution C T 3_prime_UTR_variant PACA-CA 6 111878373 111878373 single base substitution C T downstream_gene_variant PACA-CA 6 111883230 111883230 single base substitution T C downstream_gene_variant PACA-CA 6 111883230 111883230 single base substitution T C intron_variant PACA-CA 6 111883729 111883729 single base substitution T C downstream_gene_variant PACA-CA 6 111883729 111883729 single base substitution T C intron_variant PACA-CA 6 111884590 111884590 single base substitution G A downstream_gene_variant PACA-CA 6 111884590 111884590 single base substitution G A intron_variant PACA-CA 6 111891239 111891239 deletion of <=200bp A - downstream_gene_variant PACA-CA 6 111891239 111891239 deletion of <=200bp A - intron_variant PACA-CA 6 111891239 111891239 deletion of <=200bp A - upstream_gene_variant PACA-CA 6 111894444 111894444 single base substitution C T intron_variant PACA-CA 6 111896413 111896413 single base substitution G A intron_variant PACA-CA 6 111896413 111896413 single base substitution G A upstream_gene_variant PACA-CA 6 111897779 111897779 single base substitution A G intron_variant PACA-CA 6 111897779 111897779 single base substitution A G upstream_gene_variant PACA-CA 6 111899017 111899017 single base substitution C T intron_variant PACA-CA 6 111899017 111899017 single base substitution C T upstream_gene_variant PACA-CA 6 111900400 111900400 single base substitution C T intron_variant PACA-CA 6 111912592 111912592 single base substitution G T 5_prime_UTR_variant PACA-CA 6 111912592 111912592 single base substitution G T exon_variant PACA-CA 6 111912592 111912592 single base substitution G T missense_variant S233Y 698C>A PACA-CA 6 111912592 111912592 single base substitution G T missense_variant S242Y 725C>A PACA-CA 6 111914708 111914708 single base substitution G C intron_variant PACA-CA 6 111915227 111915227 single base substitution A C intron_variant PACA-CA 6 111924185 111924185 single base substitution A C intron_variant PACA-CA 6 111931021 111931021 single base substitution A G upstream_gene_variant PAEN-AU 6 111896797 111896797 single base substitution A G intron_variant PAEN-AU 6 111896797 111896797 single base substitution A G upstream_gene_variant PBCA-DE 6 111886203 111886203 single base substitution C A downstream_gene_variant PBCA-DE 6 111886203 111886203 single base substitution C A intron_variant PBCA-DE 6 111919370 111919370 single base substitution G A intron_variant PBCA-DE 6 111923739 111923739 single base substitution T C intron_variant PBCA-DE 6 111931483 111931483 single base substitution G A upstream_gene_variant PRAD-CA 6 111917848 111917848 single base substitution A G intron_variant PRAD-CA 6 111917948 111917948 single base substitution C A intron_variant PRAD-CA 6 111928920 111928920 single base substitution C T upstream_gene_variant PRAD-CA 6 111930047 111930047 single base substitution A C upstream_gene_variant PRAD-CA 6 111931328 111931328 single base substitution A C upstream_gene_variant PRAD-CA 6 111932349 111932349 single base substitution G A upstream_gene_variant PRAD-CA 6 111932384 111932384 single base substitution C T upstream_gene_variant PRAD-UK 6 111874433 111874433 single base substitution G A downstream_gene_variant PRAD-UK 6 111877347 111877347 deletion of <=200bp G - downstream_gene_variant PRAD-UK 6 111898281 111898281 single base substitution A G intron_variant PRAD-UK 6 111898281 111898281 single base substitution A G upstream_gene_variant PRAD-US 6 111912533 111912533 single base substitution G T 5_prime_UTR_variant PRAD-US 6 111912533 111912533 single base substitution G T exon_variant PRAD-US 6 111912533 111912533 single base substitution G T missense_variant P253T 757C>A PRAD-US 6 111912533 111912533 single base substitution G T missense_variant P262T 784C>A READ-US 6 111888876 111888876 single base substitution C A exon_variant READ-US 6 111888876 111888876 single base substitution C A missense_variant R25I 74G>T READ-US 6 111888876 111888876 single base substitution C A missense_variant R437I 1310G>T READ-US 6 111888876 111888876 single base substitution C A missense_variant R446I 1337G>T READ-US 6 111888876 111888876 single base substitution C A upstream_gene_variant RECA-EU 6 111873283 111873283 single base substitution A C downstream_gene_variant RECA-EU 6 111874148 111874148 single base substitution T A downstream_gene_variant RECA-EU 6 111874362 111874362 single base substitution A T downstream_gene_variant RECA-EU 6 111890010 111890010 single base substitution C T downstream_gene_variant RECA-EU 6 111890010 111890010 single base substitution C T intron_variant RECA-EU 6 111890010 111890010 single base substitution C T upstream_gene_variant RECA-EU 6 111894952 111894952 single base substitution T C exon_variant RECA-EU 6 111894952 111894952 single base substitution T C intron_variant RECA-EU 6 111917568 111917568 single base substitution T A intron_variant RECA-EU 6 111923101 111923101 single base substitution T A intron_variant RECA-EU 6 111927135 111927135 single base substitution A C 5_prime_UTR_variant RECA-EU 6 111927135 111927135 single base substitution A C exon_variant RECA-EU 6 111927135 111927135 single base substitution A C upstream_gene_variant RECA-EU 6 111927248 111927248 single base substitution G T 5_prime_UTR_variant RECA-EU 6 111927248 111927248 single base substitution G T upstream_gene_variant SKCA-BR 6 111873732 111873732 single base substitution T C downstream_gene_variant SKCA-BR 6 111874433 111874433 single base substitution G C downstream_gene_variant SKCA-BR 6 111876985 111876985 single base substitution T C downstream_gene_variant SKCA-BR 6 111877305 111877307 deletion of <=200bp CAA - downstream_gene_variant SKCA-BR 6 111896792 111896792 single base substitution A G intron_variant SKCA-BR 6 111896792 111896792 single base substitution A G upstream_gene_variant SKCA-BR 6 111900519 111900522 deletion of <=200bp CAAA - intron_variant SKCA-BR 6 111904499 111904499 single base substitution C T intron_variant SKCA-BR 6 111905912 111905912 insertion of <=200bp - CT intron_variant SKCA-BR 6 111916855 111916855 single base substitution A C intron_variant SKCA-BR 6 111917669 111917669 single base substitution T C intron_variant SKCA-BR 6 111931668 111931668 single base substitution G A upstream_gene_variant STAD-US 6 111880693 111880693 deletion of <=200bp T - downstream_gene_variant STAD-US 6 111880693 111880693 deletion of <=200bp T - exon_variant STAD-US 6 111880693 111880693 deletion of <=200bp T - frameshift_variant N126 STAD-US 6 111880693 111880693 deletion of <=200bp T - frameshift_variant N537 STAD-US 6 111880693 111880693 deletion of <=200bp T - frameshift_variant N538 STAD-US 6 111880693 111880693 deletion of <=200bp T - frameshift_variant N547 STAD-US 6 111880693 111880693 deletion of <=200bp T - frameshift_variant N82 STAD-US 6 111884186 111884186 single base substitution G A downstream_gene_variant STAD-US 6 111884186 111884186 single base substitution G A exon_variant STAD-US 6 111884186 111884186 single base substitution G A intron_variant STAD-US 6 111884186 111884186 single base substitution G A synonymous_variant L510L 1530C>T STAD-US 6 111884186 111884186 single base substitution G A synonymous_variant L511L 1533C>T STAD-US 6 111884186 111884186 single base substitution G A synonymous_variant L520L 1560C>T STAD-US 6 111884186 111884186 single base substitution G A synonymous_variant L55L 165C>T STAD-US 6 111884186 111884186 single base substitution G A synonymous_variant L99L 297C>T STAD-US 6 111896928 111896928 single base substitution C T 5_prime_UTR_variant STAD-US 6 111896928 111896928 single base substitution C T exon_variant STAD-US 6 111896928 111896928 single base substitution C T synonymous_variant P373P 1119G>A STAD-US 6 111896928 111896928 single base substitution C T synonymous_variant P382P 1146G>A STAD-US 6 111896928 111896928 single base substitution C T upstream_gene_variant STAD-US 6 111901440 111901440 single base substitution C T 5_prime_UTR_variant STAD-US 6 111901440 111901440 single base substitution C T exon_variant STAD-US 6 111901440 111901440 single base substitution C T missense_variant A328T 982G>A STAD-US 6 111901440 111901440 single base substitution C T missense_variant A337T 1009G>A STAD-US 6 111912543 111912543 single base substitution C T 5_prime_UTR_variant STAD-US 6 111912543 111912543 single base substitution C T exon_variant STAD-US 6 111912543 111912543 single base substitution C T synonymous_variant Q249Q 747G>A STAD-US 6 111912543 111912543 single base substitution C T synonymous_variant Q258Q 774G>A STAD-US 6 111912880 111912880 single base substitution C T 5_prime_UTR_variant STAD-US 6 111912880 111912880 single base substitution C T exon_variant STAD-US 6 111912880 111912880 single base substitution C T missense_variant R137H 410G>A STAD-US 6 111912880 111912880 single base substitution C T missense_variant R146H 437G>A UCEC-US 6 111901456 111901456 single base substitution G A 5_prime_UTR_variant UCEC-US 6 111901456 111901456 single base substitution G A exon_variant UCEC-US 6 111901456 111901456 single base substitution G A synonymous_variant D322D 966C>T UCEC-US 6 111901456 111901456 single base substitution G A synonymous_variant D331D 993C>T UCEC-US 6 111901500 111901500 single base substitution G T 5_prime_UTR_variant UCEC-US 6 111901500 111901500 single base substitution G T exon_variant UCEC-US 6 111901500 111901500 single base substitution G T missense_variant H308N 922C>A UCEC-US 6 111901500 111901500 single base substitution G T missense_variant H317N 949C>A UCEC-US 6 111901546 111901546 single base substitution C T 5_prime_UTR_variant UCEC-US 6 111901546 111901546 single base substitution C T exon_variant UCEC-US 6 111901546 111901546 single base substitution C T synonymous_variant P292P 876G>A UCEC-US 6 111901546 111901546 single base substitution C T synonymous_variant P301P 903G>A UCEC-US 6 111912592 111912592 single base substitution G A 5_prime_UTR_variant UCEC-US 6 111912592 111912592 single base substitution G A exon_variant UCEC-US 6 111912592 111912592 single base substitution G A missense_variant S233F 698C>T UCEC-US 6 111912592 111912592 single base substitution G A missense_variant S242F 725C>T UCEC-US 6 111912627 111912627 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 6 111912627 111912627 single base substitution C A exon_variant UCEC-US 6 111912627 111912627 single base substitution C A synonymous_variant V221V 663G>T UCEC-US 6 111912627 111912627 single base substitution C A synonymous_variant V230V 690G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand RK048_C01 COSM1634436 c.1071G>T p.E357D Substitution - Missense 6:111575773-111575773 - TCGA-AP-A0LM-01 COSM1072230 c.922C>A p.H308N Substitution - Missense 6:111580297-111580297 - TCGA-A8-A0A6-01 COSM3828841 c.102A>C p.P34P Substitution - coding silent 6:111591985-111591985 - RK217_C01 COSM3766894 c.1322T>C p.I441T Substitution - Missense 6:111567661-111567661 - pfg022T COSM4760176 c.1223C>A p.S408* Substitution - Nonsense 6:111572962-111572962 - T3080 COSM4735710 c.1201C>T p.R401W Substitution - Missense 6:111575643-111575643 - TCGA-BS-A0UL-01 COSM1072246 c.663G>T p.V221V Substitution - coding silent 6:111591424-111591424 - TCGA-AP-A059-01 COSM1072232 c.876G>A p.P292P Substitution - coding silent 6:111580343-111580343 - PD6650a COSM3720600 c.668_669insG p.Y223fs*1 Insertion - Frameshift 6:111591418-111591419 - PCSI_0090_Pa_X COSM3381356 c.698C>A p.S233Y Substitution - Missense 6:111591389-111591389 - TCGA-39-5024-01 COSM739626 c.1005G>T p.P335P Substitution - coding silent 6:111580214-111580214 - LC_S51 COSM1187139 c.640A>G p.R214G Substitution - Missense 6:111591447-111591447 - TCGA-13-0905-01 COSM73055 c.614A>C p.D205A Substitution - Missense 6:111591473-111591473 - TCGA-AP-A0LH-01 COSM1072228 c.966C>T p.D322D Substitution - coding silent 6:111580253-111580253 - S02402 COSM5700247 c.364G>A p.V122I Substitution - Missense 6:111591723-111591723 - TCGA-Q1-A73O-01 COSM4834484 c.693C>G p.L231L Substitution - coding silent 6:111591394-111591394 - HCC90 COSM3662083 c.97G>C p.E33Q Substitution - Missense 6:111591990-111591990 - TCGA-27-1833-01 COSM3410535 c.730T>C p.Y244H Substitution - Missense 6:111591357-111591357 - STC297 COSM5061340 c.83C>T p.P28L Substitution - Missense 6:111592004-111592004 - TCGA-FU-A3WB-01 COSM4843870 c.240C>G p.V80V Substitution - coding silent 6:111591847-111591847 - TCGA-CZ-5454-01 COSM483283 c.266A>T p.E89V Substitution - Missense 6:111591821-111591821 - 1428_T COSM3947894 c.1298T>C p.I433T Substitution - Missense 6:111567685-111567685 - TCGA-B5-A0JR-01 COSM1072244 c.698C>T p.S233F Substitution - Missense 6:111591389-111591389 - I2L-P19Ta-Tumor-Biopsy COSM5356997 c.1124delC p.P375fs*17 Deletion - Frameshift 6:111575720-111575720 - HCC105 COSM1620787 c.318C>A p.F106L Substitution - Missense 6:111591769-111591769 - SM-4B296 COSM4411568 c.806G>A p.G269E Substitution - Missense 6:111591281-111591281 - TLE67 COSM4168099 c.88G>A p.E30K Substitution - Missense 6:111591999-111591999 - C91 COSM4445029 c.95C>T p.S32L Substitution - Missense 6:111591992-111591992 - TCGA-EI-6917-01 COSM3429888 c.1310G>T p.R437I Substitution - Missense 6:111567673-111567673 - I2L-P19Ta-Tumor-Organoid COSM1268457 c.1408G>A p.V470M Substitution - Missense 6:111566512-111566512 - ESO-1608 COSM1268456 c.1201+1G>A p.? Unknown 6:111575642-111575642 - CSCC-7-T COSM4515892 c.1410_1411GG>TA p.E471K Substitution - Missense 6:111566509-111566510 - TCGA-F1-A448-01 COSM1072226 c.982G>A p.A328T Substitution - Missense 6:111580237-111580237 - HCC90T COSM3662083 c.97G>C p.E33Q Substitution - Missense 6:111591990-111591990 - PD11755a COSM5770181 c.33A>G p.E11E Substitution - coding silent 6:111592054-111592054 - SNU-175 COSM1072226 c.982G>A p.A328T Substitution - Missense 6:111580237-111580237 - HCT15 COSM1672683 c.491C>A p.P164H Substitution - Missense 6:111591596-111591596 - TCGA-A3-3316-01 COSM1496222 c.1551+2T>A p.? Unknown 6:111562963-111562963 - ESCC_168 COSM5648799 c.724C>T p.Q242* Substitution - Nonsense 6:111591363-111591363 - SNUH_G26_S1 COSM3683946 c.814G>A p.D272N Substitution - Missense 6:111591273-111591273 - TCGA-G9-6377-01 COSM3674523 c.1066G>T p.G356W Substitution - Missense 6:111575778-111575778 - SW1222 COSM4654930 c.424G>A p.V142I Substitution - Missense 6:111591663-111591663 - BRC13 COSM5026615 c.60G>A p.L20L Substitution - coding silent 6:111592027-111592027 - 587376 COSM1230211 c.1103A>C p.Q368P Substitution - Missense 6:111575741-111575741 - Br27P COSM39911 c.1626G>A p.R542R Substitution - coding silent 6:111559477-111559477 - ESCC_123 COSM5640932 c.1583A>T p.H528L Substitution - Missense 6:111559520-111559520 - HCT-15 COSM1672683 c.491C>A p.P164H Substitution - Missense 6:111591596-111591596 - OSCC-GB_00500111 COSM3715298 c.1028A>T p.Q343L Substitution - Missense 6:111575816-111575816 - 19 COSM5746625 c.328T>C p.C110R Substitution - Missense 6:111591759-111591759 - RK229_C01 COSM4780330 c.492T>G p.P164P Substitution - coding silent 6:111591595-111591595 - TCGA-EJ-5514-01 COSM1132056 c.757C>A p.P253T Substitution - Missense 6:111591330-111591330 - TCGA-AM-5820-01 COSM3736398 c.28G>A p.D10N Substitution - Missense 6:111592059-111592059 - I2L-P19Ta-Tumor-Organoid COSM5356997 c.1124delC p.P375fs*17 Deletion - Frameshift 6:111575720-111575720 - RK136_C01 COSM3766895 c.251G>A p.R84H Substitution - Missense 6:111591836-111591836 - LP6007546-DNA_A01 COSM3736397 c.220C>T p.R74W Substitution - Missense 6:111591867-111591867 - YUBAN COSM1697762 c.659C>T p.S220F Substitution - Missense 6:111591428-111591428 - TCGA-BR-8081-01 COSM3857598 c.1119G>A p.P373P Substitution - coding silent 6:111575725-111575725 - TCGA-BR-4257-01 COSM3857614 c.747G>A p.Q249Q Substitution - coding silent 6:111591340-111591340 - TCGA-A4-7288-01 COSM3994559 c.590C>A p.T197K Substitution - Missense 6:111591497-111591497 - 2293763 COSM4607033 c.86A>T p.E29V Substitution - Missense 6:111592001-111592001 - 347 COSM3723962 c.1209C>A p.V403V Substitution - coding silent 6:111572976-111572976 - 07-058 COSM3736398 c.28G>A p.D10N Substitution - Missense 6:111592059-111592059 - 50T COSM3715298 c.1028A>T p.Q343L Substitution - Missense 6:111575816-111575816 - SC_9047 COSM5568970 c.272G>T p.S91I Substitution - Missense 6:111591815-111591815 - A1 COSM3662083 c.97G>C p.E33Q Substitution - Missense 6:111591990-111591990 - TCGA-BR-8487-01 COSM3857597 c.1533C>T p.L511L Substitution - coding silent 6:111562983-111562983 - TCGA-66-2744-01 COSM739627 c.1434C>T p.D478D Substitution - coding silent 6:111566486-111566486 - TCGA-BR-4361-01 COSM3857615 c.410G>A p.R137H Substitution - Missense 6:111591677-111591677 - HCC105T COSM1620787 c.318C>A p.F106L Substitution - Missense 6:111591769-111591769 - 2293763 COSM4607034 c.85G>T p.E29* Substitution - Nonsense 6:111592002-111592002 - TCGA-AG-A020-01 COSM290346 c.1569G>T p.W523C Substitution - Missense 6:111559534-111559534 - RMS112_ COSM3736398 c.28G>A p.D10N Substitution - Missense 6:111592059-111592059 - Pat_41_B COSM5869117 c.733C>T p.P245S Substitution - Missense 6:111591354-111591354 - LC_C32 COSM1187138 c.1297A>G p.I433V Substitution - Missense 6:111567686-111567686 - BN17T COSM1620786 c.1342G>A p.E448K Substitution - Missense 6:111567641-111567641 - TCGA-CM-6165-01 COSM1439835 c.1646_1647insA p.Y549fs*1 Insertion - Frameshift 6:111559456-111559457 - TCGA-AM-5820-01 COSM3736397 c.220C>T p.R74W Substitution - Missense 6:111591867-111591867 - TCGA-BT-A3PJ-01 COSM3777030 c.91G>A p.E31K Substitution - Missense 6:111591996-111591996 - YUSCA COSM5404171 c.660C>A p.S220S Substitution - coding silent 6:111591427-111591427 - RMS110_ COSM3736398 c.28G>A p.D10N Substitution - Missense 6:111592059-111592059 - tumor_4147968 COSM5946792 c.893C>T p.P298L Substitution - Missense 6:111580326-111580326 - ESO-887 COSM1268457 c.1408G>A p.V470M Substitution - Missense 6:111566512-111566512 - RMS110_ COSM3736397 c.220C>T p.R74W Substitution - Missense 6:111591867-111591867 - 07-058 COSM3736397 c.220C>T p.R74W Substitution - Missense 6:111591867-111591867 - S00842 COSM5662294 c.100C>A p.P34T Substitution - Missense 6:111591987-111591987 - B96 COSM1754431 c.602C>G p.S201C Substitution - Missense 6:111591485-111591485 - RK048_C COSM1634436 c.1071G>T p.E357D Substitution - Missense 6:111575773-111575773 - TARGET-30-PASFGG COSM1288608 c.82C>T p.P28S Substitution - Missense 6:111592005-111592005 - BN17 COSM1620786 c.1342G>A p.E448K Substitution - Missense 6:111567641-111567641 - HCC2998 COSM3156506 c.391T>C p.F131L Substitution - Missense 6:111591696-111591696 - 18698 COSM4834484 c.693C>G p.L231L Substitution - coding silent 6:111591394-111591394 - TCGA-25-2396-01 COSM80672 c.891G>A p.Q297Q Substitution - coding silent 6:111580328-111580328 - TCGA-FD-A3SN-01 COSM3777029 c.323C>T p.S108F Substitution - Missense 6:111591764-111591764 - TCGA-DK-A1A3-01 COSM421106 c.265G>A p.E89K Substitution - Missense 6:111591822-111591822 - B96-Tumor COSM1754431 c.602C>G p.S201C Substitution - Missense 6:111591485-111591485 - DLD1 COSM4625650 c.662T>C p.V221A Substitution - Missense 6:111591425-111591425 - TCGA-AP-A05P-01 COSM1072226 c.982G>A p.A328T Substitution - Missense 6:111580237-111580237 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.561514 6q21 607043 1512151|dbSNP|BC002823|A/C|coding|Gln323His|1058|Validated Hs.740602 6q21 607043 1512151|dbSNP|BC002823|A/C|coding|Gln323His|1058|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.Y244H c.730T>C 6 111912560 GBM C A IntronicSNV . c.1201+846G>T 6 111896000 HC C A Missense p.A43S c.127G>T 6 111913163 LUAD C A Missense p.E357D c.1071G>T 6 111896976 HC C A Missense p.G356W c.1066G>T 6 111896981 PRAD C A Missense p.W523C c.1569G>T 6 111880737 COREAD C A Synonymous p.P335P c.1005G>T 6 111901417 LUSC C A Synonymous p.V221V c.663G>T 6 111912627 UCEC C G Synonymous p.S408S c.1224G>C 6 111894164 STAD C T Missense p.E30K c.88G>A 6 111913202 ALL C T Missense p.E31K c.91G>A 6 111913199 BLCA C T Missense p.E324K c.970G>A 6 111901452 CM C T Missense p.E89K c.265G>A 6 111913025 BLCA C T Missense p.G198R c.592G>A 6 111912698 HNSC C T Missense p.S270N c.809G>A 6 111912481 STAD C T Missense p.V470M c.1408G>A 6 111887715 ESCA C T Synonymous p.L20L c.60G>A 6 111913230 BRCA C T Synonymous p.Q249Q c.747G>A 6 111912543 STAD C T Synonymous p.Q297Q c.891G>A 6 111901531 OV G A Missense p.P28S c.82C>T 6 111913208 NB G A Missense p.P6L c.17C>T 6 111913273 HNSC G A Missense p.S233F c.698C>T 6 111912592 UCEC G A Synonymous p.D322D c.966C>T 6 111901456 UCEC G A Synonymous p.D478D c.1434C>T 6 111887689 LUSC G A Synonymous p.L231L c.693C>T 6 111912597 HNSC G T Missense p.P253T c.757C>A 6 111912533 PRAD T - 3-UTRDeletion . c.1695+235delA 6 111880376 RCCC T A Missense p.E89V c.266A>T 6 111913024 RCCC - T Frameshift p.N165Kfs*10 c.494dupA 6 111912796 RCCC T G Missense p.D205A c.614A>C 6 111912676 OV