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 8 81399960 81399962 + In_Frame_Del DEL CCT CCT - TCGA-OR-A5KW-01A-11D-A29I-10 TCGA-OR-A5KW-10A-01D-A29L-10 g.chr8:81399960_81399962delCCT c.915_917delCCT c.(913-918)accctc>acc p.L308del ACC 8 81412557 81412557 + Missense_Mutation SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr8:81412557G>T c.1801G>T c.(1801-1803)Gta>Tta p.V601L BLCA 8 81400006 81400006 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr8:81400006G>A c.961G>A c.(961-963)Gcc>Acc p.A321T BLCA 8 81411808 81411828 + In_Frame_Del DEL TGCGACAACTAAATGAACAGA TGCGACAACTAAATGAACAGA - TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr8:81411808_81411828delTGCGACAACTAAATGAACAGA c.1052_1072delTGCGACAACTAAATGAACAGA c.(1051-1074)ctgcgacaactaaatgaacagaga>cga p.LRQLNEQ351del BRCA 8 81399784 81399784 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr8:81399784C>G c.739C>G c.(739-741)Caa>Gaa p.Q247E BRCA 8 81399907 81399907 + Missense_Mutation SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 g.chr8:81399907C>T c.862C>T c.(862-864)Ccc>Tcc p.P288S BRCA 8 81412159 81412159 + Missense_Mutation SNP A A C TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr8:81412159A>C c.1403A>C c.(1402-1404)aAa>aCa p.K468T BRCA 8 81412499 81412499 + Frame_Shift_Del DEL A A - TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 g.chr8:81412499delA c.1743delA c.(1741-1743)acafs p.T581fs BRCA 8 81412521 81412521 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 g.chr8:81412521C>G c.1765C>G c.(1765-1767)Cca>Gca p.P589A CESC 8 81399682 81399682 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr8:81399682G>C c.637G>C c.(637-639)Gat>Cat p.D213H CESC 8 81399769 81399769 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 g.chr8:81399769C>G c.724C>G c.(724-726)Cta>Gta p.L242V CESC 8 81411855 81411855 + Missense_Mutation SNP A A T TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 g.chr8:81411855A>T c.1099A>T c.(1099-1101)Agc>Tgc p.S367C CESC 8 81412100 81412100 + Missense_Mutation SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 g.chr8:81412100G>T c.1344G>T c.(1342-1344)atG>atT p.M448I COAD 8 81399380 81399380 + Missense_Mutation SNP G G C TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr8:81399380G>C c.335G>C c.(334-336)gGc>gCc p.G112A COAD 8 81411802 81411802 + Missense_Mutation SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr8:81411802A>G c.1046A>G c.(1045-1047)cAa>cGa p.Q349R COAD 8 81411959 81411959 + Silent SNP T T G TCGA-AD-6548-01A-11D-1835-10 TCGA-AD-6548-10A-01D-1835-10 g.chr8:81411959T>G c.1203T>G c.(1201-1203)ccT>ccG p.P401P COAD 8 81412201 81412201 + Missense_Mutation SNP G G A TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr8:81412201G>A c.1445G>A c.(1444-1446)aGa>aAa p.R482K COAD 8 81430747 81430747 + Silent SNP T T C TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr8:81430747T>C c.2070T>C c.(2068-2070)ggT>ggC p.G690G COAD 8 81431487 81431487 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:81431487T>G c.2340T>G c.(2338-2340)tgT>tgG p.C780W COADREAD 8 81399380 81399380 + Missense_Mutation SNP G G C TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr8:81399380G>C c.335G>C c.(334-336)gGc>gCc p.G112A COADREAD 8 81411785 81411785 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:81411785G>A c.1029G>A c.(1027-1029)gaG>gaA p.E343E COADREAD 8 81411802 81411802 + Missense_Mutation SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr8:81411802A>G c.1046A>G c.(1045-1047)cAa>cGa p.Q349R COADREAD 8 81411959 81411959 + Silent SNP T T G TCGA-AD-6548-01A-11D-1835-10 TCGA-AD-6548-10A-01D-1835-10 g.chr8:81411959T>G c.1203T>G c.(1201-1203)ccT>ccG p.P401P COADREAD 8 81412187 81412187 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:81412187G>A c.1431G>A c.(1429-1431)gtG>gtA p.V477V COADREAD 8 81412201 81412201 + Missense_Mutation SNP G G A TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr8:81412201G>A c.1445G>A c.(1444-1446)aGa>aAa p.R482K COADREAD 8 81430747 81430747 + Silent SNP T T C TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr8:81430747T>C c.2070T>C c.(2068-2070)ggT>ggC p.G690G COADREAD 8 81431487 81431487 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:81431487T>G c.2340T>G c.(2338-2340)tgT>tgG p.C780W GBM 8 81431744 81431744 + Missense_Mutation SNP G G T TCGA-12-3650-01A-01D-1495-08 TCGA-12-3650-10A-01D-1495-08 g.chr8:81431744G>T c.2597G>T c.(2596-2598)tGt>tTt p.C866F GBMLGG 8 81412269 81412269 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:81412269C>T c.1513C>T c.(1513-1515)Cgg>Tgg p.R505W GBMLGG 8 81431744 81431744 + Missense_Mutation SNP G G T TCGA-12-3650-01A-01D-1495-08 TCGA-12-3650-10A-01D-1495-08 g.chr8:81431744G>T c.2597G>T c.(2596-2598)tGt>tTt p.C866F HNSC 8 81400004 81400004 + Missense_Mutation SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 g.chr8:81400004A>G c.959A>G c.(958-960)gAa>gGa p.E320G HNSC 8 81411836 81411836 + Silent SNP A A G TCGA-UF-A7JF-01A-11D-A34J-08 TCGA-UF-A7JF-10A-01D-A34M-08 g.chr8:81411836A>G c.1080A>G c.(1078-1080)aaA>aaG p.K360K HNSC 8 81431473 81431473 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr8:81431473delA c.2326delA c.(2326-2328)aaafs p.K777fs KIPAN 8 81399773 81399773 + Missense_Mutation SNP T T C TCGA-MH-A854-01A-11D-A34Z-10 TCGA-MH-A854-10A-01D-A34Z-10 g.chr8:81399773T>C c.728T>C c.(727-729)aTg>aCg p.M243T KIPAN 8 81411971 81411971 + Silent SNP T T C TCGA-CZ-5989-01A-11D-1669-08 TCGA-CZ-5989-11A-01D-1669-08 g.chr8:81411971T>C c.1215T>C c.(1213-1215)aaT>aaC p.N405N KIPAN 8 81411997 81411997 + Missense_Mutation SNP T T G TCGA-B9-7268-01A-11D-2136-08 TCGA-B9-7268-10A-01D-2136-08 g.chr8:81411997T>G c.1241T>G c.(1240-1242)gTt>gGt p.V414G KIPAN 8 81412103 81412103 + Silent SNP T T C TCGA-GL-A59R-01A-11D-A26P-10 TCGA-GL-A59R-10A-01D-A26P-10 g.chr8:81412103T>C c.1347T>C c.(1345-1347)agT>agC p.S449S KIRC 8 81411971 81411971 + Silent SNP T T C TCGA-CZ-5989-01A-11D-1669-08 TCGA-CZ-5989-11A-01D-1669-08 g.chr8:81411971T>C c.1215T>C c.(1213-1215)aaT>aaC p.N405N KIRP 8 81399773 81399773 + Missense_Mutation SNP T T C TCGA-MH-A854-01A-11D-A34Z-10 TCGA-MH-A854-10A-01D-A34Z-10 g.chr8:81399773T>C c.728T>C c.(727-729)aTg>aCg p.M243T KIRP 8 81411997 81411997 + Missense_Mutation SNP T T G TCGA-B9-7268-01A-11D-2136-08 TCGA-B9-7268-10A-01D-2136-08 g.chr8:81411997T>G c.1241T>G c.(1240-1242)gTt>gGt p.V414G KIRP 8 81412103 81412103 + Silent SNP T T C TCGA-GL-A59R-01A-11D-A26P-10 TCGA-GL-A59R-10A-01D-A26P-10 g.chr8:81412103T>C c.1347T>C c.(1345-1347)agT>agC p.S449S LGG 8 81412269 81412269 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:81412269C>T c.1513C>T c.(1513-1515)Cgg>Tgg p.R505W LIHC 8 81412172 81412172 + Silent SNP A A G TCGA-EP-A3JL-01A-11D-A20W-10 TCGA-EP-A3JL-10A-01D-A20W-10 g.chr8:81412172A>G c.1416A>G c.(1414-1416)ccA>ccG p.P472P LIHC 8 81412242 81412243 + Frame_Shift_Ins INS - - A TCGA-FV-A3R3-01A-11D-A22F-10 TCGA-FV-A3R3-10A-01D-A22F-10 g.chr8:81412242_81412243insA c.1486_1487insA c.(1486-1488)caafs p.Q496fs LIHC 8 81412438 81412438 + Missense_Mutation SNP A A G TCGA-UB-A7MD-01A-12D-A34Z-10 TCGA-UB-A7MD-10A-01D-A34Z-10 g.chr8:81412438A>G c.1682A>G c.(1681-1683)aAt>aGt p.N561S LUAD 8 81399761 81399761 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 g.chr8:81399761C>A c.716C>A c.(715-717)cCc>cAc p.P239H LUAD 8 81412049 81412049 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 g.chr8:81412049C>T c.1293C>T c.(1291-1293)ctC>ctT p.L431L LUAD 8 81412270 81412270 + Missense_Mutation SNP G G T TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chr8:81412270G>T c.1514G>T c.(1513-1515)cGg>cTg p.R505L LUAD 8 81412348 81412348 + Missense_Mutation SNP A A T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr8:81412348A>T c.1592A>T c.(1591-1593)tAc>tTc p.Y531F LUAD 8 81426180 81426180 + Missense_Mutation SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 g.chr8:81426180G>C c.1897G>C c.(1897-1899)Gat>Cat p.D633H LUAD 8 81426206 81426206 + Missense_Mutation SNP G G T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 g.chr8:81426206G>T c.1923G>T c.(1921-1923)ttG>ttT p.L641F LUAD 8 81431522 81431522 + Missense_Mutation SNP G G T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr8:81431522G>T c.2375G>T c.(2374-2376)aGt>aTt p.S792I LUSC 8 81412419 81412419 + Missense_Mutation SNP A A G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 g.chr8:81412419A>G c.1663A>G c.(1663-1665)Aca>Gca p.T555A LUSC 8 81412556 81412556 + Silent SNP A A G TCGA-21-5784-01A-01D-1632-08 TCGA-21-5784-10A-01D-1632-08 g.chr8:81412556A>G c.1800A>G c.(1798-1800)tcA>tcG p.S600S LUSC 8 81431659 81431659 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr8:81431659G>A c.2512G>A c.(2512-2514)Gaa>Aaa p.E838K OV 8 81430806 81430806 + Nonsense_Mutation SNP G G A TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 g.chr8:81430806G>A c.2129G>A c.(2128-2130)tGg>tAg p.W710* PAAD 8 81399879 81399879 + Silent SNP C C T TCGA-HV-A7OP-01A-11D-A33T-08 TCGA-HV-A7OP-10A-01D-A33W-08 g.chr8:81399879C>T c.834C>T c.(832-834)acC>acT p.T278T READ 8 81411785 81411785 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:81411785G>A c.1029G>A c.(1027-1029)gaG>gaA p.E343E READ 8 81412187 81412187 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:81412187G>A c.1431G>A c.(1429-1431)gtG>gtA p.V477V SKCM 8 81412130 81412130 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr8:81412130C>T c.1374C>T c.(1372-1374)ttC>ttT p.F458F SKCM 8 81412391 81412391 + Missense_Mutation SNP A A T TCGA-DA-A1I0-06A-11D-A20D-08 TCGA-DA-A1I0-10B-01D-A20D-08 g.chr8:81412391A>T c.1635A>T c.(1633-1635)gaA>gaT p.E545D

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 8 81394631 81394631 single base substitution G T upstream_gene_variant BRCA-EU 8 81393953 81393953 single base substitution T C upstream_gene_variant BRCA-EU 8 81393975 81393975 single base substitution C T upstream_gene_variant BRCA-EU 8 81396242 81396242 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 81396396 81396396 single base substitution C T upstream_gene_variant BRCA-EU 8 81397227 81397227 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 81397227 81397227 insertion of <=200bp - T upstream_gene_variant BRCA-EU 8 81397332 81397332 single base substitution C G upstream_gene_variant BRCA-EU 8 81397333 81397333 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 81397384 81397384 single base substitution C G upstream_gene_variant BRCA-EU 8 81397456 81397456 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 81397597 81397597 single base substitution G A upstream_gene_variant BRCA-EU 8 81399330 81399330 single base substitution G A intron_variant BRCA-EU 8 81399330 81399330 single base substitution G A synonymous_variant L95L 285G>A BRCA-EU 8 81399381 81399381 single base substitution C G intron_variant BRCA-EU 8 81399381 81399381 single base substitution C G synonymous_variant G112G 336C>G BRCA-EU 8 81399482 81399482 single base substitution C T intron_variant BRCA-EU 8 81399482 81399482 single base substitution C T missense_variant S146L 437C>T BRCA-EU 8 81400008 81400008 single base substitution C G intron_variant BRCA-EU 8 81400008 81400008 single base substitution C G synonymous_variant A321A 963C>G BRCA-EU 8 81400818 81400818 single base substitution G A intron_variant BRCA-EU 8 81402182 81402182 insertion of <=200bp - C intron_variant BRCA-EU 8 81402246 81402246 single base substitution C G intron_variant BRCA-EU 8 81402472 81402472 single base substitution C T intron_variant BRCA-EU 8 81403366 81403366 single base substitution C T intron_variant BRCA-EU 8 81403448 81403448 single base substitution T G intron_variant BRCA-EU 8 81404666 81404666 insertion of <=200bp - G intron_variant BRCA-EU 8 81405385 81405385 single base substitution C T intron_variant BRCA-EU 8 81405679 81405679 single base substitution T G intron_variant BRCA-EU 8 81406297 81406297 single base substitution C T intron_variant BRCA-EU 8 81406390 81406390 single base substitution A T intron_variant BRCA-EU 8 81406720 81406720 single base substitution C A intron_variant BRCA-EU 8 81406829 81406829 deletion of <=200bp T - intron_variant BRCA-EU 8 81407061 81407061 single base substitution G A intron_variant BRCA-EU 8 81407261 81407261 single base substitution C G intron_variant BRCA-EU 8 81407576 81407576 single base substitution T G intron_variant BRCA-EU 8 81407812 81407812 single base substitution T C intron_variant BRCA-EU 8 81408332 81408332 single base substitution C T intron_variant BRCA-EU 8 81408621 81408621 deletion of <=200bp G - intron_variant BRCA-EU 8 81408902 81408902 single base substitution C G intron_variant BRCA-EU 8 81408995 81408995 single base substitution G A intron_variant BRCA-EU 8 81409175 81409175 single base substitution C T intron_variant BRCA-EU 8 81409623 81409623 single base substitution C G intron_variant BRCA-EU 8 81411464 81411464 single base substitution C A intron_variant BRCA-EU 8 81411810 81411810 single base substitution C G missense_variant R352G 1054C>G BRCA-EU 8 81411810 81411810 single base substitution C G missense_variant R60G 178C>G BRCA-EU 8 81412206 81412206 single base substitution C T missense_variant P192S 574C>T BRCA-EU 8 81412206 81412206 single base substitution C T missense_variant P484S 1450C>T BRCA-EU 8 81412410 81412410 single base substitution G A missense_variant E260K 778G>A BRCA-EU 8 81412410 81412410 single base substitution G A missense_variant E552K 1654G>A BRCA-EU 8 81413146 81413146 single base substitution G C intron_variant BRCA-EU 8 81414171 81414171 single base substitution A G intron_variant BRCA-EU 8 81414434 81414434 single base substitution T A intron_variant BRCA-EU 8 81415019 81415019 single base substitution C G intron_variant BRCA-EU 8 81415169 81415170 deletion of <=200bp AC - intron_variant BRCA-EU 8 81415239 81415239 deletion of <=200bp T - intron_variant BRCA-EU 8 81415271 81415271 single base substitution G A intron_variant BRCA-EU 8 81416201 81416201 single base substitution C T intron_variant BRCA-EU 8 81417672 81417672 deletion of <=200bp T - intron_variant BRCA-EU 8 81417686 81417686 single base substitution G A intron_variant BRCA-EU 8 81417904 81417904 single base substitution A G intron_variant BRCA-EU 8 81418997 81418997 single base substitution C G intron_variant BRCA-EU 8 81419614 81419614 single base substitution G A intron_variant BRCA-EU 8 81419848 81419848 single base substitution C G intron_variant BRCA-EU 8 81420033 81420033 single base substitution G A intron_variant BRCA-EU 8 81420179 81420179 single base substitution G C intron_variant BRCA-EU 8 81420776 81420776 single base substitution A G intron_variant BRCA-EU 8 81421333 81421333 single base substitution G C intron_variant BRCA-EU 8 81421906 81421906 single base substitution C T intron_variant BRCA-EU 8 81422580 81422580 single base substitution C T intron_variant BRCA-EU 8 81424345 81424345 single base substitution G A intron_variant BRCA-EU 8 81425253 81425253 single base substitution C G intron_variant BRCA-EU 8 81426435 81426435 single base substitution G C intron_variant BRCA-EU 8 81427289 81427289 single base substitution A C intron_variant BRCA-EU 8 81427553 81427553 single base substitution C G intron_variant BRCA-EU 8 81427759 81427759 insertion of <=200bp - T intron_variant BRCA-EU 8 81428438 81428438 single base substitution G C intron_variant BRCA-EU 8 81428457 81428457 single base substitution A C intron_variant BRCA-EU 8 81428636 81428636 single base substitution C A intron_variant BRCA-EU 8 81430184 81430184 single base substitution A C intron_variant BRCA-EU 8 81433234 81433234 single base substitution T G 3_prime_UTR_variant BRCA-EU 8 81433234 81433234 single base substitution T G downstream_gene_variant BRCA-EU 8 81434112 81434112 single base substitution T C 3_prime_UTR_variant BRCA-EU 8 81434112 81434112 single base substitution T C downstream_gene_variant BRCA-EU 8 81435243 81435243 single base substitution C G 3_prime_UTR_variant BRCA-EU 8 81435243 81435243 single base substitution C G downstream_gene_variant BRCA-EU 8 81435297 81435297 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 81435297 81435297 single base substitution G A downstream_gene_variant BRCA-EU 8 81435719 81435719 single base substitution T C 3_prime_UTR_variant BRCA-EU 8 81435719 81435719 single base substitution T C downstream_gene_variant BRCA-EU 8 81438150 81438150 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 81438150 81438150 single base substitution G A downstream_gene_variant BRCA-EU 8 81438373 81438373 single base substitution C G 3_prime_UTR_variant BRCA-EU 8 81438373 81438373 single base substitution C G downstream_gene_variant BRCA-EU 8 81438561 81438561 single base substitution C G downstream_gene_variant BRCA-EU 8 81438609 81438609 single base substitution G A downstream_gene_variant BRCA-EU 8 81438682 81438682 single base substitution C G downstream_gene_variant BRCA-EU 8 81438892 81438892 single base substitution A G downstream_gene_variant BRCA-EU 8 81440589 81440589 single base substitution A C downstream_gene_variant BRCA-EU 8 81442327 81442327 single base substitution A C downstream_gene_variant BRCA-EU 8 81443477 81443477 single base substitution G A downstream_gene_variant BRCA-FR 8 81393975 81393975 single base substitution C T upstream_gene_variant BRCA-FR 8 81397597 81397597 single base substitution G A upstream_gene_variant BRCA-FR 8 81403366 81403366 single base substitution C T intron_variant BRCA-FR 8 81403448 81403448 single base substitution T G intron_variant BRCA-FR 8 81408332 81408332 single base substitution C T intron_variant BRCA-FR 8 81411464 81411464 single base substitution C A intron_variant BRCA-FR 8 81419848 81419848 single base substitution C G intron_variant BRCA-FR 8 81420179 81420179 single base substitution G C intron_variant BRCA-FR 8 81428112 81428112 single base substitution T C intron_variant BRCA-FR 8 81433901 81433901 single base substitution C A 3_prime_UTR_variant BRCA-FR 8 81433901 81433901 single base substitution C A downstream_gene_variant BRCA-UK 8 81407812 81407812 single base substitution T C intron_variant BRCA-UK 8 81408995 81408995 single base substitution G A intron_variant BRCA-UK 8 81423624 81423624 single base substitution G A intron_variant BRCA-UK 8 81426000 81426000 single base substitution G A intron_variant BRCA-UK 8 81429945 81429945 single base substitution G C intron_variant BRCA-UK 8 81432894 81432894 single base substitution C T 3_prime_UTR_variant BRCA-UK 8 81432894 81432894 single base substitution C T downstream_gene_variant BRCA-UK 8 81435243 81435243 single base substitution C G 3_prime_UTR_variant BRCA-UK 8 81435243 81435243 single base substitution C G downstream_gene_variant BRCA-US 8 81399784 81399784 single base substitution C G intron_variant BRCA-US 8 81399784 81399784 single base substitution C G missense_variant Q247E 739C>G BRCA-US 8 81399907 81399907 single base substitution C T intron_variant BRCA-US 8 81399907 81399907 single base substitution C T missense_variant P288S 862C>T BRCA-US 8 81412159 81412159 single base substitution A C missense_variant K176T 527A>C BRCA-US 8 81412159 81412159 single base substitution A C missense_variant K468T 1403A>C BRCA-US 8 81412499 81412499 deletion of <=200bp A - frameshift_variant T289 BRCA-US 8 81412499 81412499 deletion of <=200bp A - frameshift_variant T581 BRCA-US 8 81412521 81412521 single base substitution C G missense_variant P297A 889C>G BRCA-US 8 81412521 81412521 single base substitution C G missense_variant P589A 1765C>G BTCA-JP 8 81398168 81398168 single base substitution T C intron_variant BTCA-JP 8 81398168 81398168 single base substitution T C upstream_gene_variant BTCA-JP 8 81399381 81399381 deletion of <=200bp C - frameshift_variant G112 BTCA-JP 8 81399381 81399381 deletion of <=200bp C - intron_variant BTCA-JP 8 81411864 81411864 single base substitution G A missense_variant V370I 1108G>A BTCA-JP 8 81411864 81411864 single base substitution G A missense_variant V78I 232G>A BTCA-JP 8 81412408 81412408 single base substitution C G missense_variant S259C 776C>G BTCA-JP 8 81412408 81412408 single base substitution C G missense_variant S551C 1652C>G BTCA-JP 8 81431920 81431920 single base substitution T A 3_prime_UTR_variant CESC-US 8 81399682 81399682 single base substitution G C intron_variant CESC-US 8 81399682 81399682 single base substitution G C missense_variant D213H 637G>C CESC-US 8 81399769 81399769 single base substitution C G intron_variant CESC-US 8 81399769 81399769 single base substitution C G missense_variant L242V 724C>G CESC-US 8 81411855 81411855 single base substitution A T missense_variant S367C 1099A>T CESC-US 8 81411855 81411855 single base substitution A T missense_variant S75C 223A>T CESC-US 8 81412100 81412100 single base substitution G T missense_variant M156I 468G>T CESC-US 8 81412100 81412100 single base substitution G T missense_variant M448I 1344G>T CLLE-ES 8 81394581 81394581 single base substitution T A upstream_gene_variant CLLE-ES 8 81405906 81405906 single base substitution A C intron_variant CLLE-ES 8 81418754 81418754 single base substitution A G intron_variant COAD-US 8 81399380 81399380 single base substitution G C intron_variant COAD-US 8 81399380 81399380 single base substitution G C missense_variant G112A 335G>C COAD-US 8 81399381 81399381 deletion of <=200bp C - frameshift_variant G112 COAD-US 8 81399381 81399381 deletion of <=200bp C - intron_variant COAD-US 8 81411802 81411802 single base substitution A G missense_variant Q349R 1046A>G COAD-US 8 81411802 81411802 single base substitution A G missense_variant Q57R 170A>G COAD-US 8 81411959 81411959 single base substitution T G synonymous_variant P109P 327T>G COAD-US 8 81411959 81411959 single base substitution T G synonymous_variant P401P 1203T>G COAD-US 8 81412201 81412201 single base substitution G A missense_variant R190K 569G>A COAD-US 8 81412201 81412201 single base substitution G A missense_variant R482K 1445G>A COAD-US 8 81430747 81430747 single base substitution T C splice_region_variant COAD-US 8 81430747 81430747 single base substitution T C synonymous_variant G398G 1194T>C COAD-US 8 81430747 81430747 single base substitution T C synonymous_variant G690G 2070T>C COAD-US 8 81431487 81431487 single base substitution T G missense_variant C488W 1464T>G COAD-US 8 81431487 81431487 single base substitution T G missense_variant C756W 2268T>G COAD-US 8 81431487 81431487 single base substitution T G missense_variant C780W 2340T>G COCA-CN 8 81399033 81399033 single base substitution G A 5_prime_UTR_variant COCA-CN 8 81399033 81399033 single base substitution G A intron_variant COCA-CN 8 81399609 81399609 single base substitution G T intron_variant COCA-CN 8 81399609 81399609 single base substitution G T missense_variant E188D 564G>T COCA-CN 8 81405446 81405446 single base substitution A G intron_variant COCA-CN 8 81407872 81407872 single base substitution C G intron_variant COCA-CN 8 81411849 81411849 single base substitution G C missense_variant D365H 1093G>C COCA-CN 8 81411849 81411849 single base substitution G C missense_variant D73H 217G>C COCA-CN 8 81412401 81412401 single base substitution A C missense_variant N257H 769A>C COCA-CN 8 81412401 81412401 single base substitution A C missense_variant N549H 1645A>C COCA-CN 8 81419372 81419372 single base substitution A G intron_variant COCA-CN 8 81422880 81422880 single base substitution T G intron_variant COCA-CN 8 81422882 81422882 single base substitution T G intron_variant COCA-CN 8 81427403 81427403 single base substitution G A intron_variant COCA-CN 8 81430964 81430964 single base substitution A G intron_variant COCA-CN 8 81431721 81431721 single base substitution A G synonymous_variant R566R 1698A>G COCA-CN 8 81431721 81431721 single base substitution A G synonymous_variant R834R 2502A>G COCA-CN 8 81431721 81431721 single base substitution A G synonymous_variant R858R 2574A>G COCA-CN 8 81441074 81441074 single base substitution A G downstream_gene_variant ESAD-UK 8 81393649 81393649 single base substitution T A upstream_gene_variant ESAD-UK 8 81396043 81396043 single base substitution T C upstream_gene_variant ESAD-UK 8 81400511 81400511 single base substitution T C intron_variant ESAD-UK 8 81401947 81401947 single base substitution C T intron_variant ESAD-UK 8 81403011 81403011 single base substitution C G intron_variant ESAD-UK 8 81405356 81405356 single base substitution G A intron_variant ESAD-UK 8 81406674 81406674 single base substitution G A intron_variant ESAD-UK 8 81407618 81407618 insertion of <=200bp - T intron_variant ESAD-UK 8 81408298 81408298 deletion of <=200bp T - intron_variant ESAD-UK 8 81410222 81410222 single base substitution T C intron_variant ESAD-UK 8 81412803 81412803 single base substitution C G intron_variant ESAD-UK 8 81412986 81412986 single base substitution G A intron_variant ESAD-UK 8 81413535 81413535 single base substitution C A intron_variant ESAD-UK 8 81413598 81413598 single base substitution A T intron_variant ESAD-UK 8 81413961 81413961 single base substitution A G intron_variant ESAD-UK 8 81414692 81414692 single base substitution G A intron_variant ESAD-UK 8 81416112 81416112 single base substitution T C intron_variant ESAD-UK 8 81417672 81417672 deletion of <=200bp T - intron_variant ESAD-UK 8 81421511 81421511 single base substitution T A intron_variant ESAD-UK 8 81423530 81423530 single base substitution T C intron_variant ESAD-UK 8 81423676 81423676 single base substitution T A intron_variant ESAD-UK 8 81424469 81424471 deletion of <=200bp TAA - intron_variant ESAD-UK 8 81424691 81424691 single base substitution A T intron_variant ESAD-UK 8 81424780 81424780 single base substitution T G intron_variant ESAD-UK 8 81424970 81424970 single base substitution C A intron_variant ESAD-UK 8 81425592 81425592 single base substitution G A intron_variant ESAD-UK 8 81426539 81426539 single base substitution T C intron_variant ESAD-UK 8 81427086 81427086 single base substitution T G intron_variant ESAD-UK 8 81427469 81427474 deletion of <=200bp ACATAA - intron_variant ESAD-UK 8 81429923 81429923 single base substitution T C intron_variant ESAD-UK 8 81430470 81430470 single base substitution A G intron_variant ESAD-UK 8 81431491 81431491 single base substitution G A missense_variant V490M 1468G>A ESAD-UK 8 81431491 81431491 single base substitution G A missense_variant V758M 2272G>A ESAD-UK 8 81431491 81431491 single base substitution G A missense_variant V782M 2344G>A ESAD-UK 8 81432232 81432232 single base substitution T A 3_prime_UTR_variant ESAD-UK 8 81432232 81432232 single base substitution T A downstream_gene_variant ESAD-UK 8 81434281 81434281 single base substitution T C 3_prime_UTR_variant ESAD-UK 8 81434281 81434281 single base substitution T C downstream_gene_variant ESAD-UK 8 81434830 81434830 single base substitution A C 3_prime_UTR_variant ESAD-UK 8 81434830 81434830 single base substitution A C downstream_gene_variant ESAD-UK 8 81434842 81434842 single base substitution G C 3_prime_UTR_variant ESAD-UK 8 81434842 81434842 single base substitution G C downstream_gene_variant ESAD-UK 8 81434998 81434998 single base substitution G T 3_prime_UTR_variant ESAD-UK 8 81434998 81434998 single base substitution G T downstream_gene_variant ESAD-UK 8 81438063 81438063 single base substitution C T 3_prime_UTR_variant ESAD-UK 8 81438063 81438063 single base substitution C T downstream_gene_variant ESAD-UK 8 81438104 81438104 single base substitution G T 3_prime_UTR_variant ESAD-UK 8 81438104 81438104 single base substitution G T downstream_gene_variant ESAD-UK 8 81438214 81438214 deletion of <=200bp G - 3_prime_UTR_variant ESAD-UK 8 81438214 81438214 deletion of <=200bp G - downstream_gene_variant ESAD-UK 8 81438216 81438221 deletion of <=200bp TACTGC - 3_prime_UTR_variant ESAD-UK 8 81438216 81438221 deletion of <=200bp TACTGC - downstream_gene_variant ESAD-UK 8 81438968 81438968 single base substitution A G downstream_gene_variant ESAD-UK 8 81439216 81439216 single base substitution A G downstream_gene_variant ESAD-UK 8 81439473 81439473 single base substitution C T downstream_gene_variant ESAD-UK 8 81440605 81440605 single base substitution T C downstream_gene_variant ESAD-UK 8 81442708 81442708 single base substitution T G downstream_gene_variant ESAD-UK 8 81443148 81443148 single base substitution C A downstream_gene_variant ESCA-CN 8 81399512 81399512 single base substitution G A intron_variant ESCA-CN 8 81399512 81399512 single base substitution G A missense_variant R156Q 467G>A ESCA-CN 8 81431591 81431591 single base substitution G C missense_variant G523A 1568G>C ESCA-CN 8 81431591 81431591 single base substitution G C missense_variant G791A 2372G>C ESCA-CN 8 81431591 81431591 single base substitution G C missense_variant G815A 2444G>C GBM-US 8 81431744 81431744 single base substitution G T missense_variant C574F 1721G>T GBM-US 8 81431744 81431744 single base substitution G T missense_variant C842F 2525G>T GBM-US 8 81431744 81431744 single base substitution G T missense_variant C866F 2597G>T KIRC-US 8 81399912 81399913 deletion of <=200bp AG - frameshift_variant PV289 KIRC-US 8 81399912 81399913 deletion of <=200bp AG - intron_variant KIRC-US 8 81411971 81411971 single base substitution T C synonymous_variant N113N 339T>C KIRC-US 8 81411971 81411971 single base substitution T C synonymous_variant N405N 1215T>C KIRP-US 8 81399048 81399050 deletion of <=200bp GTC - inframe_deletion MS1M KIRP-US 8 81399048 81399050 deletion of <=200bp GTC - intron_variant KIRP-US 8 81412103 81412103 single base substitution T C synonymous_variant S157S 471T>C KIRP-US 8 81412103 81412103 single base substitution T C synonymous_variant S449S 1347T>C LIAD-FR 8 81399180 81399180 single base substitution A G intron_variant LIAD-FR 8 81399180 81399180 single base substitution A G synonymous_variant R45R 135A>G LICA-CN 8 81399798 81399798 single base substitution G T intron_variant LICA-CN 8 81399798 81399798 single base substitution G T missense_variant Q251H 753G>T LICA-CN 8 81431190 81431190 single base substitution G T splice_donor_variant LICA-FR 8 81398097 81398097 single base substitution T C 5_prime_UTR_variant LICA-FR 8 81398097 81398097 single base substitution T C missense_variant C27R 79T>C LICA-FR 8 81398097 81398097 single base substitution T C upstream_gene_variant LICA-FR 8 81415553 81415553 single base substitution A T intron_variant LICA-FR 8 81432222 81432222 single base substitution T G 3_prime_UTR_variant LICA-FR 8 81432222 81432222 single base substitution T G downstream_gene_variant LIHC-US 8 81412172 81412172 single base substitution A G synonymous_variant P180P 540A>G LIHC-US 8 81412172 81412172 single base substitution A G synonymous_variant P472P 1416A>G LIHC-US 8 81412242 81412242 insertion of <=200bp - A frameshift_variant Q204T? LIHC-US 8 81412242 81412242 insertion of <=200bp - A frameshift_variant Q496T? LIHC-US 8 81412438 81412438 single base substitution A G missense_variant N269S 806A>G LIHC-US 8 81412438 81412438 single base substitution A G missense_variant N561S 1682A>G LINC-JP 8 81401782 81401782 single base substitution A G intron_variant LINC-JP 8 81409708 81409708 insertion of <=200bp - G intron_variant LINC-JP 8 81413668 81413668 single base substitution C A intron_variant LINC-JP 8 81431087 81431087 single base substitution A G synonymous_variant T444T 1332A>G LINC-JP 8 81431087 81431087 single base substitution A G synonymous_variant T712T 2136A>G LINC-JP 8 81431087 81431087 single base substitution A G synonymous_variant T736T 2208A>G LINC-JP 8 81431530 81431530 single base substitution A G missense_variant I503V 1507A>G LINC-JP 8 81431530 81431530 single base substitution A G missense_variant I771V 2311A>G LINC-JP 8 81431530 81431530 single base substitution A G missense_variant I795V 2383A>G LINC-JP 8 81440031 81440031 single base substitution T C downstream_gene_variant LIRI-JP 8 81393554 81393554 single base substitution T C upstream_gene_variant LIRI-JP 8 81395725 81395725 single base substitution T C upstream_gene_variant LIRI-JP 8 81399767 81399767 single base substitution C G intron_variant LIRI-JP 8 81399767 81399767 single base substitution C G missense_variant S241C 722C>G LIRI-JP 8 81401194 81401194 single base substitution G A intron_variant LIRI-JP 8 81401870 81401870 single base substitution C T intron_variant LIRI-JP 8 81404618 81404618 single base substitution T C intron_variant LIRI-JP 8 81406046 81406046 single base substitution C T intron_variant LIRI-JP 8 81407007 81407007 single base substitution A G intron_variant LIRI-JP 8 81407473 81407473 single base substitution A G intron_variant LIRI-JP 8 81407994 81407994 single base substitution T G intron_variant LIRI-JP 8 81408528 81408528 single base substitution A G intron_variant LIRI-JP 8 81411132 81411132 single base substitution G T intron_variant LIRI-JP 8 81412413 81412413 single base substitution G A missense_variant G261S 781G>A LIRI-JP 8 81412413 81412413 single base substitution G A missense_variant G553S 1657G>A LIRI-JP 8 81412902 81412902 single base substitution C A intron_variant LIRI-JP 8 81413703 81413703 single base substitution T C intron_variant LIRI-JP 8 81414739 81414739 single base substitution G A intron_variant LIRI-JP 8 81414806 81414806 single base substitution A G intron_variant LIRI-JP 8 81415261 81415261 single base substitution A G intron_variant LIRI-JP 8 81415532 81415532 single base substitution A G intron_variant LIRI-JP 8 81415764 81415764 single base substitution T A intron_variant LIRI-JP 8 81416313 81416313 single base substitution A G intron_variant LIRI-JP 8 81416887 81416887 single base substitution A G intron_variant LIRI-JP 8 81425408 81425408 single base substitution C A intron_variant LIRI-JP 8 81427085 81427085 single base substitution A G intron_variant LIRI-JP 8 81429804 81429804 single base substitution C G intron_variant LIRI-JP 8 81431473 81431473 deletion of <=200bp A - frameshift_variant K484 LIRI-JP 8 81431473 81431473 deletion of <=200bp A - frameshift_variant K752 LIRI-JP 8 81431473 81431473 deletion of <=200bp A - frameshift_variant K776 LIRI-JP 8 81431739 81431739 single base substitution A C missense_variant E572D 1716A>C LIRI-JP 8 81431739 81431739 single base substitution A C missense_variant E840D 2520A>C LIRI-JP 8 81431739 81431739 single base substitution A C missense_variant E864D 2592A>C LIRI-JP 8 81432628 81432628 single base substitution A G 3_prime_UTR_variant LIRI-JP 8 81432628 81432628 single base substitution A G downstream_gene_variant LIRI-JP 8 81433674 81433674 single base substitution A G 3_prime_UTR_variant LIRI-JP 8 81433674 81433674 single base substitution A G downstream_gene_variant LIRI-JP 8 81434797 81434797 single base substitution A G 3_prime_UTR_variant LIRI-JP 8 81434797 81434797 single base substitution A G downstream_gene_variant LIRI-JP 8 81436042 81436042 single base substitution A T 3_prime_UTR_variant LIRI-JP 8 81436042 81436042 single base substitution A T downstream_gene_variant LIRI-JP 8 81439229 81439229 single base substitution A C downstream_gene_variant LIRI-JP 8 81439257 81439257 single base substitution A G downstream_gene_variant LIRI-JP 8 81440987 81440987 single base substitution A G downstream_gene_variant LIRI-JP 8 81442049 81442049 single base substitution T G downstream_gene_variant LIRI-JP 8 81442073 81442073 single base substitution C T downstream_gene_variant LIRI-JP 8 81443150 81443150 single base substitution C T downstream_gene_variant LIRI-JP 8 81443162 81443162 single base substitution T G downstream_gene_variant LIRI-JP 8 81443176 81443176 single base substitution G A downstream_gene_variant LUSC-KR 8 81395389 81395389 single base substitution C T upstream_gene_variant LUSC-KR 8 81403938 81403938 single base substitution G T intron_variant LUSC-KR 8 81405711 81405711 single base substitution A G intron_variant LUSC-KR 8 81407139 81407139 single base substitution G A intron_variant LUSC-KR 8 81412868 81412868 single base substitution G T intron_variant LUSC-KR 8 81415963 81415963 single base substitution G T intron_variant LUSC-KR 8 81418819 81418819 single base substitution C T intron_variant LUSC-KR 8 81422319 81422319 single base substitution G A intron_variant LUSC-KR 8 81423163 81423163 single base substitution A G intron_variant LUSC-KR 8 81425402 81425402 single base substitution G C intron_variant LUSC-KR 8 81437271 81437271 single base substitution G A 3_prime_UTR_variant LUSC-KR 8 81437271 81437271 single base substitution G A downstream_gene_variant LUSC-KR 8 81438891 81438891 single base substitution G C downstream_gene_variant LUSC-KR 8 81441613 81441613 single base substitution G A downstream_gene_variant LUSC-US 8 81412419 81412419 single base substitution A G missense_variant T263A 787A>G LUSC-US 8 81412419 81412419 single base substitution A G missense_variant T555A 1663A>G LUSC-US 8 81412556 81412556 single base substitution A G synonymous_variant S308S 924A>G LUSC-US 8 81412556 81412556 single base substitution A G synonymous_variant S600S 1800A>G LUSC-US 8 81431659 81431659 single base substitution G A missense_variant E546K 1636G>A LUSC-US 8 81431659 81431659 single base substitution G A missense_variant E814K 2440G>A LUSC-US 8 81431659 81431659 single base substitution G A missense_variant E838K 2512G>A MALY-DE 8 81395354 81395355 deletion of <=200bp AC - upstream_gene_variant MALY-DE 8 81405907 81405907 single base substitution A C intron_variant MALY-DE 8 81406406 81406406 single base substitution A T intron_variant MALY-DE 8 81407398 81407398 single base substitution T G intron_variant MALY-DE 8 81409453 81409453 deletion of <=200bp T - intron_variant MALY-DE 8 81411090 81411090 single base substitution T A intron_variant MALY-DE 8 81411146 81411146 single base substitution T G intron_variant MALY-DE 8 81415372 81415372 single base substitution C T intron_variant MALY-DE 8 81419675 81419675 single base substitution G A intron_variant MALY-DE 8 81420796 81420796 single base substitution A G intron_variant MALY-DE 8 81422671 81422671 single base substitution A T intron_variant MALY-DE 8 81432538 81432538 single base substitution T A 3_prime_UTR_variant MALY-DE 8 81432538 81432538 single base substitution T A downstream_gene_variant MALY-DE 8 81433554 81433554 single base substitution G A 3_prime_UTR_variant MALY-DE 8 81433554 81433554 single base substitution G A downstream_gene_variant MALY-DE 8 81438854 81438854 single base substitution A T downstream_gene_variant MALY-DE 8 81439337 81439337 single base substitution C A downstream_gene_variant MELA-AU 8 81393049 81393049 single base substitution C T upstream_gene_variant MELA-AU 8 81393060 81393060 single base substitution C T upstream_gene_variant MELA-AU 8 81393319 81393319 single base substitution G A upstream_gene_variant MELA-AU 8 81394330 81394330 single base substitution G A upstream_gene_variant MELA-AU 8 81395090 81395090 single base substitution G A upstream_gene_variant MELA-AU 8 81395587 81395587 single base substitution T C upstream_gene_variant MELA-AU 8 81395688 81395688 single base substitution A G upstream_gene_variant MELA-AU 8 81396534 81396534 single base substitution A T upstream_gene_variant MELA-AU 8 81396966 81396966 single base substitution T A upstream_gene_variant MELA-AU 8 81397682 81397682 single base substitution G C upstream_gene_variant MELA-AU 8 81399473 81399474 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 81399473 81399474 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P143L 428CC>TT MELA-AU 8 81399636 81399636 single base substitution C T intron_variant MELA-AU 8 81399636 81399636 single base substitution C T synonymous_variant S197S 591C>T MELA-AU 8 81401567 81401567 single base substitution C A intron_variant MELA-AU 8 81401711 81401711 single base substitution T A intron_variant MELA-AU 8 81401796 81401796 single base substitution C T intron_variant MELA-AU 8 81402839 81402839 single base substitution G A intron_variant MELA-AU 8 81402928 81402928 single base substitution G A intron_variant MELA-AU 8 81402998 81402998 single base substitution C T intron_variant MELA-AU 8 81403028 81403028 single base substitution G T intron_variant MELA-AU 8 81403987 81403987 single base substitution C T intron_variant MELA-AU 8 81404836 81404836 single base substitution C T intron_variant MELA-AU 8 81404971 81404971 single base substitution G A intron_variant MELA-AU 8 81405429 81405432 deletion of <=200bp CGCG - intron_variant MELA-AU 8 81405442 81405442 single base substitution G A intron_variant MELA-AU 8 81405510 81405510 single base substitution G A intron_variant MELA-AU 8 81405915 81405915 single base substitution C T intron_variant MELA-AU 8 81405949 81405949 single base substitution C T intron_variant MELA-AU 8 81406360 81406360 single base substitution C T intron_variant MELA-AU 8 81406517 81406517 single base substitution C T intron_variant MELA-AU 8 81406720 81406720 single base substitution C T intron_variant MELA-AU 8 81406815 81406815 single base substitution C T intron_variant MELA-AU 8 81407469 81407469 single base substitution G A intron_variant MELA-AU 8 81408384 81408384 single base substitution G A intron_variant MELA-AU 8 81408913 81408913 single base substitution C T intron_variant MELA-AU 8 81409265 81409265 single base substitution A G intron_variant MELA-AU 8 81409299 81409299 single base substitution G A intron_variant MELA-AU 8 81409382 81409382 single base substitution T C intron_variant MELA-AU 8 81409452 81409452 single base substitution G T intron_variant MELA-AU 8 81409791 81409791 single base substitution C T intron_variant MELA-AU 8 81410164 81410164 single base substitution G A intron_variant MELA-AU 8 81410831 81410831 single base substitution T C intron_variant MELA-AU 8 81410979 81410979 single base substitution T C intron_variant MELA-AU 8 81410988 81410988 single base substitution C T intron_variant MELA-AU 8 81411019 81411019 single base substitution G A intron_variant MELA-AU 8 81411629 81411629 single base substitution G A intron_variant MELA-AU 8 81411663 81411663 single base substitution C T intron_variant MELA-AU 8 81411664 81411664 single base substitution C T intron_variant MELA-AU 8 81413629 81413630 deletion of <=200bp TT - intron_variant MELA-AU 8 81414369 81414369 single base substitution T A intron_variant MELA-AU 8 81414689 81414689 single base substitution C A intron_variant MELA-AU 8 81414947 81414947 single base substitution A G intron_variant MELA-AU 8 81414948 81414948 single base substitution T A intron_variant MELA-AU 8 81415016 81415016 single base substitution G A intron_variant MELA-AU 8 81415616 81415616 single base substitution G A intron_variant MELA-AU 8 81416676 81416676 single base substitution T G intron_variant MELA-AU 8 81417400 81417400 single base substitution A T intron_variant MELA-AU 8 81418174 81418174 single base substitution T C intron_variant MELA-AU 8 81418207 81418207 single base substitution G A intron_variant MELA-AU 8 81419340 81419340 single base substitution C T intron_variant MELA-AU 8 81419426 81419426 single base substitution C T intron_variant MELA-AU 8 81419597 81419597 single base substitution C T intron_variant MELA-AU 8 81420444 81420444 single base substitution C T intron_variant MELA-AU 8 81423520 81423520 single base substitution G A intron_variant MELA-AU 8 81424083 81424083 single base substitution T C intron_variant MELA-AU 8 81424299 81424334 deletion of <=200bp ATTTAATGTGGTACCACATTAAATAACATTTACCAC - intron_variant MELA-AU 8 81425068 81425068 single base substitution C T intron_variant MELA-AU 8 81425464 81425465 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 81425603 81425603 single base substitution C A intron_variant MELA-AU 8 81426003 81426004 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 81426774 81426774 single base substitution T C intron_variant MELA-AU 8 81430142 81430142 single base substitution C T intron_variant MELA-AU 8 81430154 81430154 single base substitution C T intron_variant MELA-AU 8 81430377 81430377 single base substitution T A intron_variant MELA-AU 8 81431255 81431255 single base substitution G A intron_variant MELA-AU 8 81431780 81431780 single base substitution C A 3_prime_UTR_variant MELA-AU 8 81432114 81432114 single base substitution T A 3_prime_UTR_variant MELA-AU 8 81432114 81432114 single base substitution T A downstream_gene_variant MELA-AU 8 81432273 81432273 single base substitution T C 3_prime_UTR_variant MELA-AU 8 81432273 81432273 single base substitution T C downstream_gene_variant MELA-AU 8 81433743 81433743 single base substitution C T 3_prime_UTR_variant MELA-AU 8 81433743 81433743 single base substitution C T downstream_gene_variant MELA-AU 8 81434249 81434249 single base substitution C A 3_prime_UTR_variant MELA-AU 8 81434249 81434249 single base substitution C A downstream_gene_variant MELA-AU 8 81435195 81435195 deletion of <=200bp T - 3_prime_UTR_variant MELA-AU 8 81435195 81435195 deletion of <=200bp T - downstream_gene_variant MELA-AU 8 81435228 81435228 single base substitution T C 3_prime_UTR_variant MELA-AU 8 81435228 81435228 single base substitution T C downstream_gene_variant MELA-AU 8 81435252 81435252 single base substitution G A 3_prime_UTR_variant MELA-AU 8 81435252 81435252 single base substitution G A downstream_gene_variant MELA-AU 8 81435383 81435384 deletion of <=200bp AA - 3_prime_UTR_variant MELA-AU 8 81435383 81435384 deletion of <=200bp AA - downstream_gene_variant MELA-AU 8 81435844 81435844 single base substitution A T 3_prime_UTR_variant MELA-AU 8 81435844 81435844 single base substitution A T downstream_gene_variant MELA-AU 8 81436465 81436465 insertion of <=200bp - T 3_prime_UTR_variant MELA-AU 8 81436465 81436465 insertion of <=200bp - T downstream_gene_variant MELA-AU 8 81436608 81436608 single base substitution C T 3_prime_UTR_variant MELA-AU 8 81436608 81436608 single base substitution C T downstream_gene_variant MELA-AU 8 81437036 81437036 single base substitution C T 3_prime_UTR_variant MELA-AU 8 81437036 81437036 single base substitution C T downstream_gene_variant MELA-AU 8 81437142 81437142 single base substitution G A 3_prime_UTR_variant MELA-AU 8 81437142 81437142 single base substitution G A downstream_gene_variant MELA-AU 8 81438864 81438864 single base substitution C T downstream_gene_variant MELA-AU 8 81440236 81440236 single base substitution G A downstream_gene_variant MELA-AU 8 81440239 81440239 single base substitution G T downstream_gene_variant MELA-AU 8 81440375 81440375 single base substitution C T downstream_gene_variant MELA-AU 8 81440537 81440537 single base substitution T A downstream_gene_variant MELA-AU 8 81440796 81440796 single base substitution C T downstream_gene_variant MELA-AU 8 81441081 81441081 single base substitution C T downstream_gene_variant MELA-AU 8 81442229 81442229 single base substitution C T downstream_gene_variant MELA-AU 8 81443065 81443065 single base substitution G A downstream_gene_variant MELA-AU 8 81443449 81443449 single base substitution C T downstream_gene_variant ORCA-IN 8 81399869 81399869 single base substitution G A intron_variant ORCA-IN 8 81399869 81399869 single base substitution G A missense_variant C275Y 824G>A ORCA-IN 8 81411943 81411943 single base substitution C G stop_gained S104* 311C>G ORCA-IN 8 81411943 81411943 single base substitution C G stop_gained S396* 1187C>G ORCA-IN 8 81412066 81412066 single base substitution T C missense_variant I145T 434T>C ORCA-IN 8 81412066 81412066 single base substitution T C missense_variant I437T 1310T>C ORCA-IN 8 81419001 81419001 single base substitution A G intron_variant ORCA-IN 8 81422913 81422913 deletion of <=200bp G - intron_variant ORCA-IN 8 81425389 81425389 deletion of <=200bp C - intron_variant OV-AU 8 81394428 81394428 single base substitution C T upstream_gene_variant OV-AU 8 81399471 81399471 single base substitution C G intron_variant OV-AU 8 81399471 81399471 single base substitution C G synonymous_variant R142R 426C>G OV-AU 8 81399854 81399854 single base substitution T C intron_variant OV-AU 8 81399854 81399854 single base substitution T C missense_variant M270T 809T>C OV-AU 8 81405270 81405270 single base substitution G A intron_variant OV-AU 8 81406673 81406673 single base substitution C T intron_variant OV-AU 8 81409796 81409796 single base substitution A C intron_variant OV-AU 8 81413000 81413000 single base substitution C A intron_variant OV-AU 8 81416142 81416142 single base substitution T G intron_variant OV-AU 8 81424399 81424399 single base substitution C G intron_variant OV-AU 8 81427719 81427719 single base substitution A G intron_variant OV-AU 8 81430799 81430799 single base substitution G T stop_gained E416* 1246G>T OV-AU 8 81430799 81430799 single base substitution G T stop_gained E684* 2050G>T OV-AU 8 81430799 81430799 single base substitution G T stop_gained E708* 2122G>T OV-AU 8 81430800 81430800 single base substitution A T missense_variant E416V 1247A>T OV-AU 8 81430800 81430800 single base substitution A T missense_variant E684V 2051A>T OV-AU 8 81430800 81430800 single base substitution A T missense_variant E708V 2123A>T OV-AU 8 81434090 81434090 single base substitution A G 3_prime_UTR_variant OV-AU 8 81434090 81434090 single base substitution A G downstream_gene_variant OV-AU 8 81437733 81437733 single base substitution G C 3_prime_UTR_variant OV-AU 8 81437733 81437733 single base substitution G C downstream_gene_variant PACA-AU 8 81394534 81394534 single base substitution C T upstream_gene_variant PACA-AU 8 81395727 81395727 single base substitution C T upstream_gene_variant PACA-AU 8 81396399 81396399 single base substitution C G upstream_gene_variant PACA-AU 8 81399231 81399231 single base substitution G A intron_variant PACA-AU 8 81399231 81399231 single base substitution G A synonymous_variant G62G 186G>A PACA-AU 8 81400177 81400177 single base substitution T G intron_variant PACA-AU 8 81402660 81402660 single base substitution G A intron_variant PACA-AU 8 81402985 81402986 deletion of <=200bp AA - intron_variant PACA-AU 8 81408032 81408032 single base substitution G T intron_variant PACA-AU 8 81414497 81414497 single base substitution G T intron_variant PACA-AU 8 81414511 81414511 single base substitution C G intron_variant PACA-AU 8 81421402 81421402 single base substitution G A intron_variant PACA-AU 8 81422886 81422886 single base substitution T G intron_variant PACA-AU 8 81425389 81425389 deletion of <=200bp C - intron_variant PACA-AU 8 81429520 81429520 single base substitution T C intron_variant PACA-AU 8 81431056 81431056 single base substitution A G missense_variant H434R 1301A>G PACA-AU 8 81431056 81431056 single base substitution A G missense_variant H702R 2105A>G PACA-AU 8 81431056 81431056 single base substitution A G missense_variant H726R 2177A>G PACA-AU 8 81431278 81431278 single base substitution T G intron_variant PACA-AU 8 81431438 81431438 deletion of <=200bp T - intron_variant PACA-AU 8 81431549 81431549 single base substitution G A missense_variant R509H 1526G>A PACA-AU 8 81431549 81431549 single base substitution G A missense_variant R777H 2330G>A PACA-AU 8 81431549 81431549 single base substitution G A missense_variant R801H 2402G>A PACA-AU 8 81431701 81431701 single base substitution G C missense_variant D560H 1678G>C PACA-AU 8 81431701 81431701 single base substitution G C missense_variant D828H 2482G>C PACA-AU 8 81431701 81431701 single base substitution G C missense_variant D852H 2554G>C PACA-AU 8 81431704 81431704 single base substitution C T stop_gained Q561* 1681C>T PACA-AU 8 81431704 81431704 single base substitution C T stop_gained Q829* 2485C>T PACA-AU 8 81431704 81431704 single base substitution C T stop_gained Q853* 2557C>T PACA-AU 8 81433646 81433646 single base substitution G A 3_prime_UTR_variant PACA-AU 8 81433646 81433646 single base substitution G A downstream_gene_variant PACA-AU 8 81437469 81437469 single base substitution A G 3_prime_UTR_variant PACA-AU 8 81437469 81437469 single base substitution A G downstream_gene_variant PACA-AU 8 81438274 81438274 single base substitution A T 3_prime_UTR_variant PACA-AU 8 81438274 81438274 single base substitution A T downstream_gene_variant PACA-AU 8 81439028 81439028 single base substitution C G downstream_gene_variant PACA-AU 8 81439033 81439033 single base substitution A T downstream_gene_variant PACA-AU 8 81439041 81439041 single base substitution G T downstream_gene_variant PACA-AU 8 81439992 81439992 single base substitution G A downstream_gene_variant PACA-CA 8 81393051 81393051 single base substitution A G upstream_gene_variant PACA-CA 8 81393634 81393634 single base substitution T A upstream_gene_variant PACA-CA 8 81395184 81395184 deletion of <=200bp G - upstream_gene_variant PACA-CA 8 81395389 81395389 insertion of <=200bp - AT upstream_gene_variant PACA-CA 8 81395389 81395389 single base substitution C T upstream_gene_variant PACA-CA 8 81395391 81395391 single base substitution T C upstream_gene_variant PACA-CA 8 81395826 81395826 single base substitution C T upstream_gene_variant PACA-CA 8 81404442 81404442 single base substitution T C intron_variant PACA-CA 8 81407973 81407973 single base substitution T C intron_variant PACA-CA 8 81408081 81408081 single base substitution T A intron_variant PACA-CA 8 81416042 81416042 single base substitution A C intron_variant PACA-CA 8 81416982 81416982 single base substitution G A intron_variant PACA-CA 8 81419411 81419411 single base substitution C T intron_variant PACA-CA 8 81424781 81424781 single base substitution A G intron_variant PACA-CA 8 81426301 81426301 single base substitution A T intron_variant PACA-CA 8 81427365 81427365 single base substitution C G intron_variant PACA-CA 8 81433349 81433349 single base substitution T A 3_prime_UTR_variant PACA-CA 8 81433349 81433349 single base substitution T A downstream_gene_variant PACA-CA 8 81433776 81433776 single base substitution G C 3_prime_UTR_variant PACA-CA 8 81433776 81433776 single base substitution G C downstream_gene_variant PACA-CA 8 81437085 81437085 single base substitution A G 3_prime_UTR_variant PACA-CA 8 81437085 81437085 single base substitution A G downstream_gene_variant PACA-CA 8 81437408 81437408 single base substitution C A 3_prime_UTR_variant PACA-CA 8 81437408 81437408 single base substitution C A downstream_gene_variant PACA-CA 8 81441582 81441582 deletion of <=200bp T - downstream_gene_variant PAEN-AU 8 81393473 81393473 single base substitution G A upstream_gene_variant PAEN-AU 8 81397207 81397207 insertion of <=200bp - A upstream_gene_variant PAEN-AU 8 81419319 81419319 single base substitution T G intron_variant PBCA-DE 8 81409453 81409453 single base substitution T C intron_variant PBCA-DE 8 81439643 81439643 single base substitution C T downstream_gene_variant PRAD-CA 8 81407061 81407061 single base substitution G C intron_variant PRAD-CA 8 81421576 81421576 single base substitution G A intron_variant PRAD-CA 8 81436788 81436788 single base substitution A T 3_prime_UTR_variant PRAD-CA 8 81436788 81436788 single base substitution A T downstream_gene_variant PRAD-CA 8 81442223 81442223 single base substitution C G downstream_gene_variant PRAD-UK 8 81400502 81400502 deletion of <=200bp A - intron_variant PRAD-UK 8 81400755 81400755 single base substitution G C intron_variant PRAD-UK 8 81411682 81411682 single base substitution A T intron_variant PRAD-UK 8 81419022 81419022 single base substitution G A intron_variant PRAD-UK 8 81429428 81429428 single base substitution T G intron_variant PRAD-UK 8 81443500 81443500 deletion of <=200bp T - downstream_gene_variant RECA-EU 8 81397347 81397347 single base substitution C A upstream_gene_variant RECA-EU 8 81405368 81405368 single base substitution G A intron_variant RECA-EU 8 81408503 81408503 single base substitution G T intron_variant RECA-EU 8 81408757 81408757 single base substitution A C intron_variant RECA-EU 8 81420308 81420308 single base substitution G A intron_variant RECA-EU 8 81423204 81423204 single base substitution T C intron_variant RECA-EU 8 81432508 81432508 single base substitution A T 3_prime_UTR_variant RECA-EU 8 81432508 81432508 single base substitution A T downstream_gene_variant SKCA-BR 8 81395353 81395355 deletion of <=200bp TAC - upstream_gene_variant SKCA-BR 8 81395712 81395712 single base substitution C T upstream_gene_variant SKCA-BR 8 81396568 81396568 single base substitution T G upstream_gene_variant SKCA-BR 8 81397217 81397217 single base substitution T C upstream_gene_variant SKCA-BR 8 81398804 81398804 single base substitution T G 5_prime_UTR_variant SKCA-BR 8 81398804 81398804 single base substitution T G intron_variant SKCA-BR 8 81398807 81398807 single base substitution A G 5_prime_UTR_variant SKCA-BR 8 81398807 81398807 single base substitution A G intron_variant SKCA-BR 8 81399692 81399692 single base substitution A G intron_variant SKCA-BR 8 81399692 81399692 single base substitution A G missense_variant D216G 647A>G SKCA-BR 8 81401222 81401222 single base substitution A C intron_variant SKCA-BR 8 81401241 81401241 single base substitution T G intron_variant SKCA-BR 8 81405440 81405446 deletion of <=200bp GCGCACA - intron_variant SKCA-BR 8 81405442 81405444 deletion of <=200bp GCA - intron_variant SKCA-BR 8 81405444 81405444 single base substitution A G intron_variant SKCA-BR 8 81406976 81406976 single base substitution G A intron_variant SKCA-BR 8 81408604 81408604 single base substitution C T intron_variant SKCA-BR 8 81409010 81409010 single base substitution C T intron_variant SKCA-BR 8 81409375 81409375 single base substitution C T intron_variant SKCA-BR 8 81409707 81409707 insertion of <=200bp - TG intron_variant SKCA-BR 8 81410567 81410567 single base substitution G A intron_variant SKCA-BR 8 81410577 81410577 single base substitution T A intron_variant SKCA-BR 8 81416090 81416090 single base substitution C T intron_variant SKCA-BR 8 81418797 81418797 single base substitution A C intron_variant SKCA-BR 8 81419028 81419028 single base substitution G A intron_variant SKCA-BR 8 81419255 81419255 single base substitution C T intron_variant SKCA-BR 8 81419596 81419596 single base substitution C T intron_variant SKCA-BR 8 81422874 81422874 insertion of <=200bp - AGTGTGG intron_variant SKCA-BR 8 81422876 81422876 insertion of <=200bp - TGTGGGG intron_variant SKCA-BR 8 81422882 81422882 single base substitution T G intron_variant SKCA-BR 8 81423927 81423927 single base substitution C A intron_variant SKCA-BR 8 81429076 81429076 single base substitution G A intron_variant SKCA-BR 8 81438095 81438095 single base substitution T G 3_prime_UTR_variant SKCA-BR 8 81438095 81438095 single base substitution T G downstream_gene_variant SKCA-BR 8 81439407 81439409 deletion of <=200bp CTT - downstream_gene_variant SKCA-BR 8 81440897 81440897 single base substitution C T downstream_gene_variant SKCM-US 8 81412130 81412130 single base substitution C T synonymous_variant F166F 498C>T SKCM-US 8 81412130 81412130 single base substitution C T synonymous_variant F458F 1374C>T SKCM-US 8 81412391 81412391 single base substitution A T missense_variant E253D 759A>T SKCM-US 8 81412391 81412391 single base substitution A T missense_variant E545D 1635A>T STAD-US 8 81399898 81399898 single base substitution G A intron_variant STAD-US 8 81399898 81399898 single base substitution G A missense_variant V285M 853G>A STAD-US 8 81411872 81411872 single base substitution A G synonymous_variant G372G 1116A>G STAD-US 8 81411872 81411872 single base substitution A G synonymous_variant G80G 240A>G STAD-US 8 81412237 81412237 single base substitution G A missense_variant R202Q 605G>A STAD-US 8 81412237 81412237 single base substitution G A missense_variant R494Q 1481G>A STAD-US 8 81431715 81431715 single base substitution C A synonymous_variant P564P 1692C>A STAD-US 8 81431715 81431715 single base substitution C A synonymous_variant P832P 2496C>A STAD-US 8 81431715 81431715 single base substitution C A synonymous_variant P856P 2568C>A UCEC-US 8 81399514 81399514 single base substitution G T intron_variant UCEC-US 8 81399514 81399514 single base substitution G T missense_variant G157W 469G>T UCEC-US 8 81399981 81399981 single base substitution C A intron_variant UCEC-US 8 81399981 81399981 single base substitution C A synonymous_variant V312V 936C>A UCEC-US 8 81411758 81411758 single base substitution C A stop_gained Y334* 1002C>A UCEC-US 8 81411758 81411758 single base substitution C A stop_gained Y42* 126C>A UCEC-US 8 81411875 81411875 single base substitution A C missense_variant K373N 1119A>C UCEC-US 8 81411875 81411875 single base substitution A C missense_variant K81N 243A>C UCEC-US 8 81411923 81411923 insertion of <=200bp - AA frameshift_variant F389L? UCEC-US 8 81411923 81411923 insertion of <=200bp - AA frameshift_variant F97L? UCEC-US 8 81412381 81412381 single base substitution G A missense_variant G250E 749G>A UCEC-US 8 81412381 81412381 single base substitution G A missense_variant G542E 1625G>A UCEC-US 8 81412507 81412507 single base substitution T G missense_variant F292C 875T>G UCEC-US 8 81412507 81412507 single base substitution T G missense_variant F584C 1751T>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-06-0237 COSM2157818 c.820_821insG p.C275fs*19 Insertion - Frameshift 8:80487630-80487631 + CCK81 COSM2876666 c.1525A>T p.N509Y Substitution - Missense 8:80500046-80500046 + TCGA-BR-8360-01 COSM3901702 c.853G>A p.V285M Substitution - Missense 8:80487663-80487663 + TCGA-IR-A3LK-01 COSM4817710 c.637G>C p.D213H Substitution - Missense 8:80487447-80487447 + PD11402a COSM5770095 c.285G>A p.L95L Substitution - coding silent 8:80487095-80487095 + 587222 COSM1233121 c.2215G>T p.E739* Substitution - Nonsense 8:80518931-80518931 + TCGA-EK-A2PI-01 COSM4831197 c.1344G>T p.M448I Substitution - Missense 8:80499865-80499865 + 21T COSM3716048 c.1310T>C p.I437T Substitution - Missense 8:80499831-80499831 + TCGA-A8-A07R-01 COSM454872 c.739C>G p.Q247E Substitution - Missense 8:80487549-80487549 + LUAD-B00859 COSM332502 c.1939A>G p.S647G Substitution - Missense 8:80513987-80513987 + TCGA-DC-5869-01 COSM5076826 c.2066-6T>G p.? Unknown 8:80518776-80518776 + HN_62415 COSM130272 c.1266C>A p.D422E Substitution - Missense 8:80499787-80499787 + TCGA-UB-A7MD-01 COSM4933117 c.1682A>G p.N561S Substitution - Missense 8:80500203-80500203 + CHEWS020 COSM4588212 c.797A>G p.D266G Substitution - Missense 8:80487607-80487607 + SC_9011 COSM5567984 c.888G>A p.S296S Substitution - coding silent 8:80487698-80487698 + HN_62897 COSM130271 c.1265A>G p.D422G Substitution - Missense 8:80499786-80499786 + ESCC_BICR_042T COSM5443898 c.467G>A p.R156Q Substitution - Missense 8:80487277-80487277 + TCGA-AP-A051-01 COSM1101907 c.1625G>A p.G542E Substitution - Missense 8:80500146-80500146 + HCC25 COSM1624207 c.2311A>G p.I771V Substitution - Missense 8:80519295-80519295 + TCGA-GL-A59R-01 COSM3996137 c.1347T>C p.S449S Substitution - coding silent 8:80499868-80499868 + TCGA-12-3650-01 COSM3413130 c.2525G>T p.C842F Substitution - Missense 8:80519509-80519509 + TCGA-CZ-5989-01 COSM486687 c.1215T>C p.N405N Substitution - coding silent 8:80499736-80499736 + AOCS-058-1-5 COSM4151893 c.2050G>T p.E684* Substitution - Nonsense 8:80518564-80518564 + 2492729 COSM5727210 c.2513C>T p.S838L Substitution - Missense 8:80519497-80519497 + BD138T COSM5507148 c.1652C>G p.S551C Substitution - Missense 8:80500173-80500173 + TCGA-B5-A0JY-01 COSM1101903 c.1119A>C p.K373N Substitution - Missense 8:80499640-80499640 + ICGC_0061 COSM1159486 c.2482G>C p.D828H Substitution - Missense 8:80519466-80519466 + T3336 COSM4742064 c.611_613delGCA p.S207delS Deletion - In frame 8:80487421-80487423 + HN_62739 COSM128513 c.2149T>C p.L717L Substitution - coding silent 8:80518865-80518865 + 8062308 COSM2876676 c.2105A>G p.H702R Substitution - Missense 8:80518821-80518821 + HCC38 COSM1624206 c.2136A>G p.T712T Substitution - coding silent 8:80518852-80518852 + ESCC_21 COSM5649659 c.1405T>A p.S469T Substitution - Missense 8:80499926-80499926 + LUAD-S01467 COSM399579 c.1517A>T p.N506I Substitution - Missense 8:80500038-80500038 + 8061185 COSM3395423 c.2330G>A p.R777H Substitution - Missense 8:80519314-80519314 + TCGA-DS-A1OA-01 COSM4843040 c.1099A>T p.S367C Substitution - Missense 8:80499620-80499620 + 2492729 COSM5727208 c.1478C>T p.S493L Substitution - Missense 8:80499999-80499999 + TCGA-21-5784-01 COSM751661 c.1800A>G p.S600S Substitution - coding silent 8:80500321-80500321 + HT115 COSM4638414 c.609C>T p.S203S Substitution - coding silent 8:80487419-80487419 + TCGA-AG-A002-01 COSM264759 c.1029G>A p.E343E Substitution - coding silent 8:80499550-80499550 + CHEWS014 COSM4588215 c.2333A>G p.Y778C Substitution - Missense 8:80519317-80519317 + EW8 COSM4588213 c.1389A>G p.L463L Substitution - coding silent 8:80499910-80499910 + LS411 COSM4614574 c.480_481delTG p.V161fs*132 Deletion - Frameshift 8:80487290-80487291 + TCGA-30-1891-01 COSM118052 c.2057G>A p.W686* Substitution - Nonsense 8:80518571-80518571 + CSCC-38-T COSM4481108 c.2412C>T p.F804F Substitution - coding silent 8:80519396-80519396 + UM-SCC-17B COSM4598994 c.553G>T p.E185* Substitution - Nonsense 8:80487363-80487363 + 36T COSM3716047 c.824G>A p.C275Y Substitution - Missense 8:80487634-80487634 + TCGA-DM-A1DA-01 COSM1458343 c.1998T>C p.G666G Substitution - coding silent 8:80518512-80518512 + PTC-73C COSM5446007 c.5_7delCGT p.S2delS Deletion - In frame 8:80486815-80486817 + RK047_C01 COSM1635877 c.722C>G p.S241C Substitution - Missense 8:80487532-80487532 + SC_9107 COSM5554560 c.390C>G p.G130G Substitution - coding silent 8:80487200-80487200 + PT32 COSM1101907 c.1625G>A p.G542E Substitution - Missense 8:80500146-80500146 + TCGA-EP-A3JL-01 COSM4913885 c.1416A>G p.P472P Substitution - coding silent 8:80499937-80499937 + HCC060T COSM5818146 c.753G>T p.Q251H Substitution - Missense 8:80487563-80487563 + sysucc-882T COSM5447815 c.2502A>G p.R834R Substitution - coding silent 8:80519486-80519486 + TCGA-AX-A05Z-01 COSM1101899 c.936C>A p.V312V Substitution - coding silent 8:80487746-80487746 + TCGA-AG-A002-01 COSM264760 c.1431G>A p.V477V Substitution - coding silent 8:80499952-80499952 + ESCC_BICR_025T COSM5434484 c.2372G>C p.G791A Substitution - Missense 8:80519356-80519356 + 8030032 COSM1159486 c.2482G>C p.D828H Substitution - Missense 8:80519466-80519466 + ESCC_109 COSM5639137 c.2085G>A p.M695I Substitution - Missense 8:80518801-80518801 + TCGA-AN-A046-01 COSM3835054 c.1403A>C p.K468T Substitution - Missense 8:80499924-80499924 + 222 COSM4425345 c.1671G>A p.V557V Substitution - coding silent 8:80500192-80500192 + TCGA-AX-A05Z-01 COSM1101909 c.1751T>G p.F584C Substitution - Missense 8:80500272-80500272 + QC2-39-T2 COSM5655598 c.2129G>A p.R710K Substitution - Missense 8:80518845-80518845 + HCC38T COSM1624206 c.2136A>G p.T712T Substitution - coding silent 8:80518852-80518852 + TCGA-BP-4164-01 COSM1137911 c.995A>G p.E332G Substitution - Missense 8:80499516-80499516 + HCC018T COSM5820166 c.2238+1G>T p.? Unknown 8:80518955-80518955 + pfg043T COSM4758136 c.1250T>G p.F417C Substitution - Missense 8:80499771-80499771 + SC_9096 COSM5554560 c.390C>G p.G130G Substitution - coding silent 8:80487200-80487200 + 8058339 COSM3395422 c.186G>A p.G62G Substitution - coding silent 8:80486996-80486996 + SJMB032 COSM255559 c.1421C>G p.S474C Substitution - Missense 8:80499942-80499942 + sysucc-1972T COSM5480530 c.1093G>C p.D365H Substitution - Missense 8:80499614-80499614 + TCGA-EE-A29D-06 COSM3651238 c.1374C>T p.F458F Substitution - coding silent 8:80499895-80499895 + TCGA-BH-A0HK-01 COSM454873 c.862C>T p.P288S Substitution - Missense 8:80487672-80487672 + PT32 COSM5907507 c.1624G>A p.G542R Substitution - Missense 8:80500145-80500145 + AOCS-114-1-8 COSM4151892 c.809T>C p.M270T Substitution - Missense 8:80487619-80487619 + HCC2998 COSM2876675 c.2008G>T p.D670Y Substitution - Missense 8:80518522-80518522 + TCGA-G4-6588-01 COSM1458340 c.1046A>G p.Q349R Substitution - Missense 8:80499567-80499567 + 587376 COSM1233122 c.1545G>T p.K515N Substitution - Missense 8:80500066-80500066 + HT115 COSM2876647 c.958G>A p.E320K Substitution - Missense 8:80487768-80487768 + 113T COSM1725336 c.1924G>T p.A642S Substitution - Missense 8:80513972-80513972 + sysucc-311T COSM5467501 c.564G>T p.E188D Substitution - Missense 8:80487374-80487374 + BD72T COSM5513948 c.336delC p.L114fs*2 Deletion - Frameshift 8:80487146-80487146 + CSCC-27-T COSM751660 c.2440G>A p.E814K Substitution - Missense 8:80519424-80519424 + 8057501 COSM3395424 c.2485C>T p.Q829* Substitution - Nonsense 8:80519469-80519469 + SC_9047 COSM5547036 c.391delG p.G132fs*19 Deletion - Frameshift 8:80487201-80487201 + PD6684a COSM5791587 c.1654G>A p.E552K Substitution - Missense 8:80500175-80500175 + AOCS-058-1-5 COSM4151894 c.2051A>T p.E684V Substitution - Missense 8:80518565-80518565 + CSCC-44-T COSM4462896 c.1266C>G p.D422E Substitution - Missense 8:80499787-80499787 + TCGA-18-3409-01 COSM751660 c.2440G>A p.E814K Substitution - Missense 8:80519424-80519424 + 259610 COSM3725388 c.1748G>A p.R583K Substitution - Missense 8:80500269-80500269 + TCGA-BR-4362-01 COSM3901703 c.1481G>A p.R494Q Substitution - Missense 8:80500002-80500002 + BD114T COSM5503387 c.1108G>A p.V370I Substitution - Missense 8:80499629-80499629 + TCGA-DG-A2KM-01 COSM4851697 c.724C>G p.L242V Substitution - Missense 8:80487534-80487534 + LC_C25 COSM1187571 c.329C>T p.A110V Substitution - Missense 8:80487139-80487139 + TCGA-43-6647-01 COSM751662 c.1663A>G p.T555A Substitution - Missense 8:80500184-80500184 + HN_62237 COSM128683 c.1810delC p.P604fs*19 Deletion - Frameshift 8:80500331-80500331 + TCGA-B5-A11E-01 COSM1101895 c.469G>T p.G157W Substitution - Missense 8:80487279-80487279 + TCGA-AP-A0LF-01 COSM1101893 c.447C>T p.P149P Substitution - coding silent 8:80487257-80487257 + TCGA-D1-A174-01 COSM1101897 c.471G>A p.G157G Substitution - coding silent 8:80487281-80487281 + ESO-539 COSM1270687 c.2326C>A p.R776R Substitution - coding silent 8:80519310-80519310 + 86567 COSM96295 c.786C>G p.R262R Substitution - coding silent 8:80487596-80487596 + OSCC-GB_00360111 COSM3716047 c.824G>A p.C275Y Substitution - Missense 8:80487634-80487634 + TCGA-CA-6717-01 COSM1458344 c.2268T>G p.C756W Substitution - Missense 8:80519252-80519252 + HCC25T COSM1624207 c.2311A>G p.I771V Substitution - Missense 8:80519295-80519295 + TCGA-D1-A103-01 COSM1101901 c.1002C>A p.Y334* Substitution - Nonsense 8:80499523-80499523 + TCGA-BH-A0HP-01 COSM454874 c.1765C>G p.P589A Substitution - Missense 8:80500286-80500286 + TCGA-DA-A1I0-06 COSM3651239 c.1635A>T p.E545D Substitution - Missense 8:80500156-80500156 + H838 COSM1193158 c.1137G>T p.K379N Substitution - Missense 8:80499658-80499658 + TCGA-CM-4743-01 COSM1458339 c.335G>C p.G112A Substitution - Missense 8:80487145-80487145 + TCGA-A2-A0CS-01 COSM5835571 c.1743delA p.R583fs*14 Deletion - Frameshift 8:80500264-80500264 + TCGA-AD-6548-01 COSM1458341 c.1203T>G p.P401P Substitution - coding silent 8:80499724-80499724 + TCGA-AX-A0IS-01 COSM1101905 c.1167_1168insAA p.T391fs*20 Insertion - Frameshift 8:80499688-80499689 + TCGA-AU-6004-01 COSM5513948 c.336delC p.L114fs*2 Deletion - Frameshift 8:80487146-80487146 + TCGA-CG-5728-01 COSM2876653 c.1116A>G p.G372G Substitution - coding silent 8:80499637-80499637 + 1N26-VS-1T26 COSM4973570 c.1397G>T p.S466I Substitution - Missense 8:80499918-80499918 + TCGA-DM-A1DA-01 COSM1458342 c.1445G>A p.R482K Substitution - Missense 8:80499966-80499966 + RK165_C01 COSM1635878 c.2520A>C p.E840D Substitution - Missense 8:80519504-80519504 + CSCC-47-T COSM4516904 c.2412_2413CC>TT p.P805S Substitution - Missense 8:80519396-80519397 + pfg181T COSM4758135 c.729G>A p.M243I Substitution - Missense 8:80487539-80487539 + pfg143T COSM4747550 c.330delG p.G112fs*4 Deletion - Frameshift 8:80487140-80487140 + CSCC-49-T COSM4530473 c.1700G>A p.G567E Substitution - Missense 8:80500221-80500221 + SJMB032 COSM255559 c.1421C>G p.S474C Substitution - Missense 8:80499942-80499942 + PD4953a COSM5771580 c.963C>G p.A321A Substitution - coding silent 8:80487773-80487773 + RMS112_ COSM4987804 c.2477G>C p.G826A Substitution - Missense 8:80519461-80519461 + PD7215a COSM5218779 c.437C>T p.S146L Substitution - Missense 8:80487247-80487247 + RK243_C01 COSM4779819 c.1657G>A p.G553S Substitution - Missense 8:80500178-80500178 + AOCS-001-1-7 COSM4151891 c.426C>G p.R142R Substitution - coding silent 8:80487236-80487236 + 313 COSM1742070 c.2401G>C p.D801H Substitution - Missense 8:80519385-80519385 + TCGA-BR-6452-01 COSM3901704 c.2496C>A p.P832P Substitution - coding silent 8:80519480-80519480 + 46M COSM5589384 c.997G>A p.G333R Substitution - Missense 8:80499518-80499518 + MU_39 COSM5967117 c.809T>G p.M270R Substitution - Missense 8:80487619-80487619 + TCGA-14-0817 COSM2154786 c.823T>G p.C275G Substitution - Missense 8:80487633-80487633 + OSCC-GB_00210111 COSM3716048 c.1310T>C p.I437T Substitution - Missense 8:80499831-80499831 + HCC2998 COSM4631868 c.510G>A p.G170G Substitution - coding silent 8:80487320-80487320 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.591868 8q13-q21.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - AA Frameshift p.T391Rfs*20 c.1168_1169dupAA 8 81411924 UCEC AG - Frameshift p.V290Gfs*3 c.867_868delAG 8 81399912 RCCC A G IntronicSNV . c.1961-1462A>G 8 81429176 PIA A G Missense p.D422G c.1265A>G 8 81412021 HNSC A G Missense p.E320G c.959A>G 8 81400004 HNSC A G Missense p.T555A c.1663A>G 8 81412419 LUSC A G Synonymous p.G372G c.1116A>G 8 81411872 STAD A G Synonymous p.S600S c.1800A>G 8 81412556 LUSC A T Missense p.E545D c.1635A>T 8 81412391 CM C A Missense p.D422E c.1266C>A 8 81412022 HNSC C A Synonymous p.R800R c.2398C>A 8 81431545 ESCA C A Synonymous p.V419V c.1257C>A 8 81412013 CM C G Missense p.P589A c.1765C>G 8 81412521 BRCA C G Missense p.Q247E c.739C>G 8 81399784 BRCA C G Missense p.S241C c.722C>G 8 81399767 HC C T Missense p.P288S c.862C>T 8 81399907 BRCA C T Missense p.T252I c.755C>T 8 81399800 CM G A Missense p.G520S c.1558G>A 8 81412314 RCCC G A Nonsense p.W710* c.2129G>A 8 81430806 OV G C Missense p.D633H c.1897G>C 8 81426180 LUAD G C Missense p.D852H c.2554G>C 8 81431701 PAAD - G Frameshift p.C275Vfs*19 c.822dupG 8 81399866 BRCA G T Missense p.C866F c.2597G>T 8 81431744 GBM G T Missense p.L641F c.1923G>T 8 81426206 LUAD T C Synonymous p.L741L c.2221T>C 8 81431100 HNSC T C Synonymous p.N405N c.1215T>C 8 81411971 RCCC T C Synonymous p.S313S c.939T>C 8 81399984 RCCC