Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 150970638 150970638 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 g.chr1:150970638G>A c.1093C>T c.(1093-1095)Cac>Tac p.H365Y BLCA 1 150971904 150971904 + Missense_Mutation SNP C C T TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr1:150971904C>T c.922G>A c.(922-924)Gag>Aag p.E308K BLCA 1 150972348 150972348 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 g.chr1:150972348G>A c.828C>T c.(826-828)ctC>ctT p.L276L BLCA 1 150972380 150972380 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr1:150972380T>C c.796A>G c.(796-798)Atc>Gtc p.I266V BLCA 1 150972408 150972408 + Silent SNP C C G TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr1:150972408C>G c.768G>C c.(766-768)ctG>ctC p.L256L BLCA 1 150973046 150973046 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 g.chr1:150973046G>T c.622C>A c.(622-624)Ctg>Atg p.L208M BLCA 1 150974656 150974656 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr1:150974656G>A c.438C>T c.(436-438)ctC>ctT p.L146L BLCA 1 150974766 150974766 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr1:150974766C>T c.328G>A c.(328-330)Gag>Aag p.E110K BLCA 1 150974810 150974810 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr1:150974810G>A c.284C>T c.(283-285)tCc>tTc p.S95F BLCA 1 150974829 150974829 + Missense_Mutation SNP C C G TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 g.chr1:150974829C>G c.265G>C c.(265-267)Gag>Cag p.E89Q BRCA 1 150969810 150969810 + Missense_Mutation SNP C C T TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 g.chr1:150969810C>T c.1363G>A c.(1363-1365)Gag>Aag p.E455K BRCA 1 150970156 150970156 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr1:150970156G>C c.1273C>G c.(1273-1275)Caa>Gaa p.Q425E BRCA 1 150972391 150972391 + Missense_Mutation SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr1:150972391A>C c.785T>G c.(784-786)gTg>gGg p.V262G BRCA 1 150972941 150972941 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr1:150972941C>T c.727G>A c.(727-729)Gat>Aat p.D243N BRCA 1 150973769 150973769 + Missense_Mutation SNP T T A TCGA-BH-A0HW-01A-11W-A050-09 TCGA-BH-A0HW-10A-01W-A055-09 g.chr1:150973769T>A c.533A>T c.(532-534)aAg>aTg p.K178M CESC 1 150974870 150974870 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr1:150974870G>C c.224C>G c.(223-225)tCa>tGa p.S75* CESC 1 150975116 150975116 + 5'UTR SNP G G C TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 g.chr1:150975116G>C COAD 1 150970119 150970119 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr1:150970119G>A c.1310C>T c.(1309-1311)aCg>aTg p.T437M COAD 1 150970609 150970609 + Silent SNP A A G TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr1:150970609A>G c.1122T>C c.(1120-1122)ccT>ccC p.P374P COAD 1 150970635 150970635 + Missense_Mutation SNP G G T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr1:150970635G>T c.1096C>A c.(1096-1098)Ctg>Atg p.L366M COAD 1 150974652 150974652 + Missense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:150974652G>T c.442C>A c.(442-444)Ctt>Att p.L148I COADREAD 1 150970119 150970119 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr1:150970119G>A c.1310C>T c.(1309-1311)aCg>aTg p.T437M COADREAD 1 150970609 150970609 + Silent SNP A A G TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr1:150970609A>G c.1122T>C c.(1120-1122)ccT>ccC p.P374P COADREAD 1 150970635 150970635 + Missense_Mutation SNP G G T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr1:150970635G>T c.1096C>A c.(1096-1098)Ctg>Atg p.L366M COADREAD 1 150972986 150972986 + Missense_Mutation SNP C C A TCGA-DY-A1DD-01A-21D-A152-10 TCGA-DY-A1DD-10A-01D-A152-10 g.chr1:150972986C>A c.682G>T c.(682-684)Gtc>Ttc p.V228F COADREAD 1 150974652 150974652 + Missense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:150974652G>T c.442C>A c.(442-444)Ctt>Att p.L148I COADREAD 1 150974949 150974949 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:150974949C>A c.145G>T c.(145-147)Gaa>Taa p.E49* ESCA 1 150975149 150975149 + 5'UTR SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 g.chr1:150975149T>C ESCA 1 150978592 150978592 + Intron SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 g.chr1:150978592G>T ESCA 1 150978596 150978596 + Intron SNP C C T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 g.chr1:150978596C>T HNSC 1 150972984 150972984 + Silent SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 g.chr1:150972984G>C c.684C>G c.(682-684)gtC>gtG p.V228V HNSC 1 150974779 150974779 + Missense_Mutation SNP C C G TCGA-CV-5978-01A-11D-1683-08 TCGA-CV-5978-11A-01D-1683-08 g.chr1:150974779C>G c.315G>C c.(313-315)agG>agC p.R105S HNSC 1 150974945 150974945 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chr1:150974945C>A c.149G>T c.(148-150)cGg>cTg p.R50L LIHC 1 150974245 150974245 + Frame_Shift_Del DEL G G - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr1:150974245delG c.467delC c.(466-468)ccgfs p.P156fs LIHC 1 150974678 150974679 + In_Frame_Ins INS - - GAG TCGA-DD-A1EI-01A-11D-A12Z-10 TCGA-DD-A1EI-11A-11D-A12Z-10 g.chr1:150974678_150974679insGAG c.415_416insCTC c.(415-417)ctc>cCTCtc p.138_139insP LUAD 1 150970641 150970644 + Frame_Shift_Del DEL AGTC AGTC - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 g.chr1:150970641_150970644delAGTC c.1087_1090delGACT c.(1087-1092)gactttfs p.DF363fs LUAD 1 150974245 150974245 + Missense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 g.chr1:150974245G>A c.467C>T c.(466-468)cCg>cTg p.P156L LUSC 1 150970185 150970185 + Missense_Mutation SNP A A T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 g.chr1:150970185A>T c.1244T>A c.(1243-1245)cTg>cAg p.L415Q LUSC 1 150971880 150971880 + Nonsense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr1:150971880G>A c.946C>T c.(946-948)Cga>Tga p.R316* LUSC 1 150971905 150971905 + Silent SNP C C T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 g.chr1:150971905C>T c.921G>A c.(919-921)aaG>aaA p.K307K LUSC 1 150971965 150971965 + Silent SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr1:150971965C>T c.861G>A c.(859-861)ctG>ctA p.L287L LUSC 1 150971968 150971968 + Silent SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr1:150971968G>A c.858C>T c.(856-858)ttC>ttT p.F286F LUSC 1 150974945 150974945 + Missense_Mutation SNP C C T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chr1:150974945C>T c.149G>A c.(148-150)cGg>cAg p.R50Q OV 1 150970610 150970610 + Missense_Mutation SNP G G A TCGA-04-1367-01A-01W-0492-08 TCGA-04-1367-10A-01W-0492-08 g.chr1:150970610G>A c.1121C>T c.(1120-1122)cCt>cTt p.P374L PAAD 1 150971955 150971955 + Missense_Mutation SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 g.chr1:150971955C>T c.871G>A c.(871-873)Gcg>Acg p.A291T PCPG 1 150975138 150975138 + 5'UTR SNP C C A TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 g.chr1:150975138C>A PRAD 1 150974945 150974945 + Missense_Mutation SNP C C T TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 g.chr1:150974945C>T c.149G>A c.(148-150)cGg>cAg p.R50Q READ 1 150972986 150972986 + Missense_Mutation SNP C C A TCGA-DY-A1DD-01A-21D-A152-10 TCGA-DY-A1DD-10A-01D-A152-10 g.chr1:150972986C>A c.682G>T c.(682-684)Gtc>Ttc p.V228F READ 1 150974949 150974949 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:150974949C>A c.145G>T c.(145-147)Gaa>Taa p.E49* SKCM 1 150971860 150971860 + Silent SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr1:150971860G>A c.966C>T c.(964-966)acC>acT p.T322T SKCM 1 150971957 150971957 + Missense_Mutation SNP G G A TCGA-ER-A19B-06A-11D-A196-08 TCGA-ER-A19B-10A-01D-A198-08 g.chr1:150971957G>A c.869C>T c.(868-870)aCc>aTc p.T290I SKCM 1 150971967 150971967 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 g.chr1:150971967G>A c.859C>T c.(859-861)Ctg>Ttg p.L287L SKCM 1 150972934 150972934 + Splice_Site SNP T T C TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr1:150972934T>C c.734A>G c.(733-735)cAg>cGg p.Q245R SKCM 1 150975030 150975030 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr1:150975030G>A c.64C>T c.(64-66)Cct>Tct p.P22S SKCM 1 150975031 150975031 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr1:150975031G>A c.63C>T c.(61-63)atC>atT p.I21I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 1 150972348 150972348 single base substitution G A exon_variant BLCA-US 1 150972348 150972348 single base substitution G A synonymous_variant L134L 402C>T BLCA-US 1 150972348 150972348 single base substitution G A synonymous_variant L181L 543C>T BLCA-US 1 150972348 150972348 single base substitution G A synonymous_variant L276L 828C>T BLCA-US 1 150972348 150972348 single base substitution G A synonymous_variant L324L 972C>T BLCA-US 1 150972348 150972348 single base substitution G A upstream_gene_variant BLCA-US 1 150972380 150972380 single base substitution T C exon_variant BLCA-US 1 150972380 150972380 single base substitution T C missense_variant I124V 370A>G BLCA-US 1 150972380 150972380 single base substitution T C missense_variant I171V 511A>G BLCA-US 1 150972380 150972380 single base substitution T C missense_variant I266V 796A>G BLCA-US 1 150972380 150972380 single base substitution T C missense_variant I314V 940A>G BLCA-US 1 150972380 150972380 single base substitution T C upstream_gene_variant BLCA-US 1 150973046 150973046 single base substitution G T intron_variant BLCA-US 1 150973046 150973046 single base substitution G T missense_variant L113M 337C>A BLCA-US 1 150973046 150973046 single base substitution G T missense_variant L208M 622C>A BLCA-US 1 150973046 150973046 single base substitution G T missense_variant L256M 766C>A BLCA-US 1 150973046 150973046 single base substitution G T missense_variant L66M 196C>A BLCA-US 1 150973046 150973046 single base substitution G T upstream_gene_variant BLCA-US 1 150974829 150974829 single base substitution C G 5_prime_UTR_variant BLCA-US 1 150974829 150974829 single base substitution C G intron_variant BLCA-US 1 150974829 150974829 single base substitution C G missense_variant E137Q 409G>C BLCA-US 1 150974829 150974829 single base substitution C G missense_variant E89Q 265G>C BLCA-US 1 150974829 150974829 single base substitution C G upstream_gene_variant BLCA-US 1 150981133 150981133 single base substitution C G upstream_gene_variant BRCA-EU 1 150964167 150964167 single base substitution G A downstream_gene_variant BRCA-EU 1 150964831 150964831 single base substitution G T downstream_gene_variant BRCA-EU 1 150966558 150966558 single base substitution G A downstream_gene_variant BRCA-EU 1 150967354 150967354 single base substitution G A downstream_gene_variant BRCA-EU 1 150968372 150968372 single base substitution C G downstream_gene_variant BRCA-EU 1 150969020 150969020 single base substitution G C downstream_gene_variant BRCA-EU 1 150969341 150969341 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 150969341 150969341 single base substitution C G downstream_gene_variant BRCA-EU 1 150969507 150969507 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 150969507 150969507 single base substitution T C downstream_gene_variant BRCA-EU 1 150971353 150971353 single base substitution C A downstream_gene_variant BRCA-EU 1 150971353 150971353 single base substitution C A intron_variant BRCA-EU 1 150971353 150971353 single base substitution C A upstream_gene_variant BRCA-EU 1 150973102 150973102 deletion of <=200bp A - intron_variant BRCA-EU 1 150973102 150973102 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 150973441 150973441 deletion of <=200bp T - intron_variant BRCA-EU 1 150973441 150973441 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 150973764 150973764 single base substitution G C exon_variant BRCA-EU 1 150973764 150973764 single base substitution G C missense_variant Q180E 538C>G BRCA-EU 1 150973764 150973764 single base substitution G C missense_variant Q228E 682C>G BRCA-EU 1 150973764 150973764 single base substitution G C missense_variant Q38E 112C>G BRCA-EU 1 150973764 150973764 single base substitution G C missense_variant Q85E 253C>G BRCA-EU 1 150973764 150973764 single base substitution G C upstream_gene_variant BRCA-EU 1 150974160 150974160 single base substitution G T intron_variant BRCA-EU 1 150974160 150974160 single base substitution G T upstream_gene_variant BRCA-EU 1 150974424 150974424 single base substitution G A intron_variant BRCA-EU 1 150974424 150974424 single base substitution G A upstream_gene_variant BRCA-EU 1 150975213 150975213 single base substitution G A 5_prime_UTR_variant BRCA-EU 1 150975213 150975213 single base substitution G A intron_variant BRCA-EU 1 150975213 150975213 single base substitution G A upstream_gene_variant BRCA-EU 1 150975404 150975404 single base substitution G A 5_prime_UTR_variant BRCA-EU 1 150975404 150975404 single base substitution G A intron_variant BRCA-EU 1 150975404 150975404 single base substitution G A upstream_gene_variant BRCA-EU 1 150977517 150977517 single base substitution G A intron_variant BRCA-EU 1 150977539 150977539 single base substitution C T intron_variant BRCA-EU 1 150979283 150979283 single base substitution C T 5_prime_UTR_variant BRCA-EU 1 150979283 150979283 single base substitution C T exon_variant BRCA-EU 1 150979283 150979283 single base substitution C T intron_variant BRCA-EU 1 150979283 150979283 single base substitution C T upstream_gene_variant BRCA-EU 1 150979438 150979438 single base substitution A T intron_variant BRCA-EU 1 150979438 150979438 single base substitution A T upstream_gene_variant BRCA-EU 1 150981877 150981877 single base substitution A G upstream_gene_variant BRCA-EU 1 150982517 150982517 single base substitution A C upstream_gene_variant BRCA-EU 1 150982588 150982588 single base substitution A T upstream_gene_variant BRCA-EU 1 150983598 150983598 single base substitution T A upstream_gene_variant BRCA-EU 1 150983802 150983802 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 150984051 150984051 single base substitution C T upstream_gene_variant BRCA-EU 1 150984893 150984893 single base substitution C T upstream_gene_variant BRCA-FR 1 150974424 150974424 single base substitution G A intron_variant BRCA-FR 1 150974424 150974424 single base substitution G A upstream_gene_variant BRCA-UK 1 150975203 150975203 single base substitution C T 5_prime_UTR_variant BRCA-UK 1 150975203 150975203 single base substitution C T intron_variant BRCA-UK 1 150975203 150975203 single base substitution C T upstream_gene_variant BRCA-US 1 150967079 150967079 single base substitution G A downstream_gene_variant BRCA-US 1 150969810 150969810 single base substitution C T downstream_gene_variant BRCA-US 1 150969810 150969810 single base substitution C T missense_variant E313K 937G>A BRCA-US 1 150969810 150969810 single base substitution C T missense_variant E360K 1078G>A BRCA-US 1 150969810 150969810 single base substitution C T missense_variant E455K 1363G>A BRCA-US 1 150969810 150969810 single base substitution C T missense_variant E503K 1507G>A BRCA-US 1 150970156 150970156 single base substitution G C downstream_gene_variant BRCA-US 1 150970156 150970156 single base substitution G C missense_variant Q283E 847C>G BRCA-US 1 150970156 150970156 single base substitution G C missense_variant Q330E 988C>G BRCA-US 1 150970156 150970156 single base substitution G C missense_variant Q425E 1273C>G BRCA-US 1 150970156 150970156 single base substitution G C missense_variant Q473E 1417C>G BRCA-US 1 150970156 150970156 single base substitution G C missense_variant Q63E 187C>G BRCA-US 1 150972391 150972391 single base substitution A C exon_variant BRCA-US 1 150972391 150972391 single base substitution A C missense_variant V120G 359T>G BRCA-US 1 150972391 150972391 single base substitution A C missense_variant V167G 500T>G BRCA-US 1 150972391 150972391 single base substitution A C missense_variant V262G 785T>G BRCA-US 1 150972391 150972391 single base substitution A C missense_variant V310G 929T>G BRCA-US 1 150972391 150972391 single base substitution A C upstream_gene_variant BRCA-US 1 150972941 150972941 single base substitution C T intron_variant BRCA-US 1 150972941 150972941 single base substitution C T missense_variant D101N 301G>A BRCA-US 1 150972941 150972941 single base substitution C T missense_variant D148N 442G>A BRCA-US 1 150972941 150972941 single base substitution C T missense_variant D243N 727G>A BRCA-US 1 150972941 150972941 single base substitution C T missense_variant D291N 871G>A BRCA-US 1 150972941 150972941 single base substitution C T upstream_gene_variant BRCA-US 1 150973769 150973769 single base substitution T A exon_variant BRCA-US 1 150973769 150973769 single base substitution T A missense_variant K178M 533A>T BRCA-US 1 150973769 150973769 single base substitution T A missense_variant K226M 677A>T BRCA-US 1 150973769 150973769 single base substitution T A missense_variant K36M 107A>T BRCA-US 1 150973769 150973769 single base substitution T A missense_variant K83M 248A>T BRCA-US 1 150973769 150973769 single base substitution T A upstream_gene_variant BTCA-JP 1 150970247 150970247 single base substitution C T downstream_gene_variant BTCA-JP 1 150970247 150970247 single base substitution C T synonymous_variant L252L 756G>A BTCA-JP 1 150970247 150970247 single base substitution C T synonymous_variant L299L 897G>A BTCA-JP 1 150970247 150970247 single base substitution C T synonymous_variant L32L 96G>A BTCA-JP 1 150970247 150970247 single base substitution C T synonymous_variant L394L 1182G>A BTCA-JP 1 150970247 150970247 single base substitution C T synonymous_variant L442L 1326G>A BTCA-JP 1 150971838 150971838 single base substitution G A downstream_gene_variant BTCA-JP 1 150971838 150971838 single base substitution G A splice_region_variant BTCA-JP 1 150971838 150971838 single base substitution G A upstream_gene_variant CESC-US 1 150974870 150974870 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant CESC-US 1 150974870 150974870 single base substitution G C intron_variant CESC-US 1 150974870 150974870 single base substitution G C stop_gained S123* 368C>G CESC-US 1 150974870 150974870 single base substitution G C stop_gained S75* 224C>G CESC-US 1 150974870 150974870 single base substitution G C upstream_gene_variant CESC-US 1 150975116 150975116 single base substitution G C 5_prime_UTR_variant CESC-US 1 150975116 150975116 single base substitution G C intron_variant CESC-US 1 150975116 150975116 single base substitution G C missense_variant P41R 122C>G CESC-US 1 150975116 150975116 single base substitution G C upstream_gene_variant COAD-US 1 150970635 150970635 single base substitution G T downstream_gene_variant COAD-US 1 150970635 150970635 single base substitution G T missense_variant L224M 670C>A COAD-US 1 150970635 150970635 single base substitution G T missense_variant L271M 811C>A COAD-US 1 150970635 150970635 single base substitution G T missense_variant L366M 1096C>A COAD-US 1 150970635 150970635 single base substitution G T missense_variant L414M 1240C>A COAD-US 1 150970635 150970635 single base substitution G T missense_variant L4M 10C>A COAD-US 1 150974971 150974971 single base substitution T A intron_variant COAD-US 1 150974971 150974971 single base substitution T A missense_variant R41S 123A>T COAD-US 1 150974971 150974971 single base substitution T A missense_variant R89S 267A>T COAD-US 1 150974971 150974971 single base substitution T A upstream_gene_variant COCA-CN 1 150970122 150970122 single base substitution C T downstream_gene_variant COCA-CN 1 150970122 150970122 single base substitution C T missense_variant R294Q 881G>A COCA-CN 1 150970122 150970122 single base substitution C T missense_variant R341Q 1022G>A COCA-CN 1 150970122 150970122 single base substitution C T missense_variant R436Q 1307G>A COCA-CN 1 150970122 150970122 single base substitution C T missense_variant R484Q 1451G>A COCA-CN 1 150970122 150970122 single base substitution C T missense_variant R74Q 221G>A COCA-CN 1 150970273 150970273 single base substitution T C downstream_gene_variant COCA-CN 1 150970273 150970273 single base substitution T C intron_variant COCA-CN 1 150970323 150970323 single base substitution A C downstream_gene_variant COCA-CN 1 150970323 150970323 single base substitution A C intron_variant COCA-CN 1 150981165 150981165 single base substitution G A upstream_gene_variant EOPC-DE 1 150977251 150977251 single base substitution A T intron_variant ESAD-UK 1 150965487 150965487 single base substitution A G downstream_gene_variant ESAD-UK 1 150967209 150967209 single base substitution A G downstream_gene_variant ESAD-UK 1 150970512 150970512 single base substitution C G downstream_gene_variant ESAD-UK 1 150970512 150970512 single base substitution C G intron_variant ESAD-UK 1 150973557 150973557 single base substitution G A intron_variant ESAD-UK 1 150973557 150973557 single base substitution G A upstream_gene_variant ESAD-UK 1 150975216 150975216 single base substitution A G 5_prime_UTR_variant ESAD-UK 1 150975216 150975216 single base substitution A G intron_variant ESAD-UK 1 150975216 150975216 single base substitution A G upstream_gene_variant ESAD-UK 1 150975332 150975332 single base substitution G A 5_prime_UTR_variant ESAD-UK 1 150975332 150975332 single base substitution G A intron_variant ESAD-UK 1 150975332 150975332 single base substitution G A upstream_gene_variant ESAD-UK 1 150976157 150976157 single base substitution G T intron_variant ESAD-UK 1 150976276 150976276 single base substitution A T intron_variant ESAD-UK 1 150976352 150976352 single base substitution A G intron_variant ESAD-UK 1 150976517 150976517 single base substitution G T intron_variant ESAD-UK 1 150976788 150976788 single base substitution C T intron_variant ESAD-UK 1 150979813 150979813 single base substitution C T intron_variant ESAD-UK 1 150979813 150979813 single base substitution C T upstream_gene_variant ESAD-UK 1 150981006 150981006 single base substitution C G upstream_gene_variant ESAD-UK 1 150981059 150981059 single base substitution C T upstream_gene_variant ESAD-UK 1 150981298 150981298 single base substitution A T upstream_gene_variant ESAD-UK 1 150982195 150982198 deletion of <=200bp AATT - upstream_gene_variant ESAD-UK 1 150985606 150985606 single base substitution G T upstream_gene_variant ESCA-CN 1 150974719 150974719 single base substitution C T 5_prime_UTR_variant ESCA-CN 1 150974719 150974719 single base substitution C T intron_variant ESCA-CN 1 150974719 150974719 single base substitution C T synonymous_variant Q125Q 375G>A ESCA-CN 1 150974719 150974719 single base substitution C T synonymous_variant Q173Q 519G>A ESCA-CN 1 150974719 150974719 single base substitution C T synonymous_variant Q30Q 90G>A ESCA-CN 1 150974719 150974719 single base substitution C T upstream_gene_variant ESCA-CN 1 150975090 150975090 single base substitution C T intron_variant ESCA-CN 1 150975090 150975090 single base substitution C T missense_variant E2K 4G>A ESCA-CN 1 150975090 150975090 single base substitution C T missense_variant E50K 148G>A ESCA-CN 1 150975090 150975090 single base substitution C T upstream_gene_variant GBM-US 1 150974995 150974995 single base substitution C T intron_variant GBM-US 1 150974995 150974995 single base substitution C T synonymous_variant E33E 99G>A GBM-US 1 150974995 150974995 single base substitution C T synonymous_variant E81E 243G>A GBM-US 1 150974995 150974995 single base substitution C T upstream_gene_variant KIRC-US 1 150981137 150981137 insertion of <=200bp - TGCT upstream_gene_variant LAML-KR 1 150964299 150964299 single base substitution A G downstream_gene_variant LAML-KR 1 150972102 150972102 single base substitution C A intron_variant LAML-KR 1 150972102 150972102 single base substitution C A upstream_gene_variant LGG-US 1 150967084 150967084 single base substitution G A downstream_gene_variant LICA-FR 1 150966913 150966913 single base substitution C T downstream_gene_variant LICA-FR 1 150967439 150967439 single base substitution G A downstream_gene_variant LICA-FR 1 150983148 150983148 deletion of <=200bp T - upstream_gene_variant LIHC-US 1 150974678 150974678 insertion of <=200bp - GAG 5_prime_UTR_variant LIHC-US 1 150974678 150974678 insertion of <=200bp - GAG inframe_insertion L139LS LIHC-US 1 150974678 150974678 insertion of <=200bp - GAG inframe_insertion L187LS LIHC-US 1 150974678 150974678 insertion of <=200bp - GAG inframe_insertion L44LS LIHC-US 1 150974678 150974678 insertion of <=200bp - GAG intron_variant LIHC-US 1 150974678 150974678 insertion of <=200bp - GAG upstream_gene_variant LIHC-US 1 150975098 150975098 single base substitution A G 5_prime_UTR_variant LIHC-US 1 150975098 150975098 single base substitution A G intron_variant LIHC-US 1 150975098 150975098 single base substitution A G missense_variant L47S 140T>C LIHC-US 1 150975098 150975098 single base substitution A G upstream_gene_variant LINC-JP 1 150969848 150969848 single base substitution A G 3_prime_UTR_variant LINC-JP 1 150969848 150969848 single base substitution A G downstream_gene_variant LINC-JP 1 150969848 150969848 single base substitution A G intron_variant LINC-JP 1 150972383 150972383 single base substitution T C exon_variant LINC-JP 1 150972383 150972383 single base substitution T C missense_variant I123V 367A>G LINC-JP 1 150972383 150972383 single base substitution T C missense_variant I170V 508A>G LINC-JP 1 150972383 150972383 single base substitution T C missense_variant I265V 793A>G LINC-JP 1 150972383 150972383 single base substitution T C missense_variant I313V 937A>G LINC-JP 1 150972383 150972383 single base substitution T C upstream_gene_variant LINC-JP 1 150972953 150972953 single base substitution C G intron_variant LINC-JP 1 150972953 150972953 single base substitution C G missense_variant G144R 430G>C LINC-JP 1 150972953 150972953 single base substitution C G missense_variant G239R 715G>C LINC-JP 1 150972953 150972953 single base substitution C G missense_variant G287R 859G>C LINC-JP 1 150972953 150972953 single base substitution C G missense_variant G97R 289G>C LINC-JP 1 150972953 150972953 single base substitution C G upstream_gene_variant LINC-JP 1 150972965 150972965 single base substitution G A intron_variant LINC-JP 1 150972965 150972965 single base substitution G A missense_variant P140S 418C>T LINC-JP 1 150972965 150972965 single base substitution G A missense_variant P235S 703C>T LINC-JP 1 150972965 150972965 single base substitution G A missense_variant P283S 847C>T LINC-JP 1 150972965 150972965 single base substitution G A missense_variant P93S 277C>T LINC-JP 1 150972965 150972965 single base substitution G A upstream_gene_variant LINC-JP 1 150974465 150974465 deletion of <=200bp T - intron_variant LINC-JP 1 150974465 150974465 deletion of <=200bp T - upstream_gene_variant LIRI-JP 1 150964902 150964902 single base substitution G A downstream_gene_variant LIRI-JP 1 150969316 150969316 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 150969316 150969316 single base substitution G A downstream_gene_variant LIRI-JP 1 150970815 150970815 single base substitution T G downstream_gene_variant LIRI-JP 1 150970815 150970815 single base substitution T G intron_variant LIRI-JP 1 150970815 150970815 single base substitution T G upstream_gene_variant LIRI-JP 1 150971456 150971456 single base substitution T C downstream_gene_variant LIRI-JP 1 150971456 150971456 single base substitution T C intron_variant LIRI-JP 1 150971456 150971456 single base substitution T C upstream_gene_variant LIRI-JP 1 150972984 150972984 single base substitution G C intron_variant LIRI-JP 1 150972984 150972984 single base substitution G C synonymous_variant V133V 399C>G LIRI-JP 1 150972984 150972984 single base substitution G C synonymous_variant V228V 684C>G LIRI-JP 1 150972984 150972984 single base substitution G C synonymous_variant V276V 828C>G LIRI-JP 1 150972984 150972984 single base substitution G C synonymous_variant V86V 258C>G LIRI-JP 1 150972984 150972984 single base substitution G C upstream_gene_variant LIRI-JP 1 150973861 150973861 single base substitution A T intron_variant LIRI-JP 1 150973861 150973861 single base substitution A T upstream_gene_variant LIRI-JP 1 150976023 150976023 single base substitution T A intron_variant LIRI-JP 1 150981813 150981813 single base substitution A T upstream_gene_variant LIRI-JP 1 150982019 150982019 deletion of <=200bp C - upstream_gene_variant LIRI-JP 1 150982086 150982086 single base substitution T G upstream_gene_variant LIRI-JP 1 150982807 150982807 single base substitution G T upstream_gene_variant LIRI-JP 1 150984473 150984473 single base substitution T G upstream_gene_variant LIRI-JP 1 150985340 150985340 single base substitution C T upstream_gene_variant LUSC-KR 1 150969072 150969072 single base substitution G A 3_prime_UTR_variant LUSC-KR 1 150969072 150969072 single base substitution G A downstream_gene_variant LUSC-KR 1 150969073 150969073 single base substitution C T 3_prime_UTR_variant LUSC-KR 1 150969073 150969073 single base substitution C T downstream_gene_variant LUSC-KR 1 150971170 150971170 single base substitution G A downstream_gene_variant LUSC-KR 1 150971170 150971170 single base substitution G A intron_variant LUSC-KR 1 150971170 150971170 single base substitution G A upstream_gene_variant LUSC-KR 1 150977496 150977496 single base substitution G C intron_variant LUSC-KR 1 150980897 150980897 single base substitution G C upstream_gene_variant LUSC-US 1 150970185 150970185 single base substitution A T downstream_gene_variant LUSC-US 1 150970185 150970185 single base substitution A T missense_variant L273Q 818T>A LUSC-US 1 150970185 150970185 single base substitution A T missense_variant L320Q 959T>A LUSC-US 1 150970185 150970185 single base substitution A T missense_variant L415Q 1244T>A LUSC-US 1 150970185 150970185 single base substitution A T missense_variant L463Q 1388T>A LUSC-US 1 150970185 150970185 single base substitution A T missense_variant L53Q 158T>A LUSC-US 1 150971880 150971880 single base substitution G A downstream_gene_variant LUSC-US 1 150971880 150971880 single base substitution G A stop_gained R174* 520C>T LUSC-US 1 150971880 150971880 single base substitution G A stop_gained R221* 661C>T LUSC-US 1 150971880 150971880 single base substitution G A stop_gained R316* 946C>T LUSC-US 1 150971880 150971880 single base substitution G A stop_gained R364* 1090C>T LUSC-US 1 150971880 150971880 single base substitution G A upstream_gene_variant LUSC-US 1 150971905 150971905 single base substitution C T exon_variant LUSC-US 1 150971905 150971905 single base substitution C T synonymous_variant K165K 495G>A LUSC-US 1 150971905 150971905 single base substitution C T synonymous_variant K212K 636G>A LUSC-US 1 150971905 150971905 single base substitution C T synonymous_variant K307K 921G>A LUSC-US 1 150971905 150971905 single base substitution C T synonymous_variant K355K 1065G>A LUSC-US 1 150971905 150971905 single base substitution C T upstream_gene_variant LUSC-US 1 150971965 150971965 single base substitution C T exon_variant LUSC-US 1 150971965 150971965 single base substitution C T synonymous_variant L145L 435G>A LUSC-US 1 150971965 150971965 single base substitution C T synonymous_variant L192L 576G>A LUSC-US 1 150971965 150971965 single base substitution C T synonymous_variant L287L 861G>A LUSC-US 1 150971965 150971965 single base substitution C T synonymous_variant L335L 1005G>A LUSC-US 1 150971965 150971965 single base substitution C T upstream_gene_variant LUSC-US 1 150971968 150971968 single base substitution G A exon_variant LUSC-US 1 150971968 150971968 single base substitution G A synonymous_variant F144F 432C>T LUSC-US 1 150971968 150971968 single base substitution G A synonymous_variant F191F 573C>T LUSC-US 1 150971968 150971968 single base substitution G A synonymous_variant F286F 858C>T LUSC-US 1 150971968 150971968 single base substitution G A synonymous_variant F334F 1002C>T LUSC-US 1 150971968 150971968 single base substitution G A upstream_gene_variant LUSC-US 1 150974945 150974945 single base substitution C T intron_variant LUSC-US 1 150974945 150974945 single base substitution C T missense_variant R50Q 149G>A LUSC-US 1 150974945 150974945 single base substitution C T missense_variant R98Q 293G>A LUSC-US 1 150974945 150974945 single base substitution C T upstream_gene_variant MALY-DE 1 150970413 150970413 single base substitution A G downstream_gene_variant MALY-DE 1 150970413 150970413 single base substitution A G intron_variant MALY-DE 1 150972781 150972781 single base substitution T A intron_variant MALY-DE 1 150972781 150972781 single base substitution T A upstream_gene_variant MALY-DE 1 150973614 150973614 single base substitution G T intron_variant MALY-DE 1 150973614 150973614 single base substitution G T upstream_gene_variant MALY-DE 1 150979648 150979648 single base substitution T A intron_variant MALY-DE 1 150979648 150979648 single base substitution T A upstream_gene_variant MALY-DE 1 150981638 150981638 single base substitution C G upstream_gene_variant MELA-AU 1 150964033 150964033 single base substitution C T downstream_gene_variant MELA-AU 1 150965104 150965104 single base substitution G A downstream_gene_variant MELA-AU 1 150965116 150965116 single base substitution C T downstream_gene_variant MELA-AU 1 150966295 150966295 single base substitution G A downstream_gene_variant MELA-AU 1 150966624 150966624 single base substitution G A downstream_gene_variant MELA-AU 1 150967106 150967106 single base substitution G A downstream_gene_variant MELA-AU 1 150967574 150967574 single base substitution G A downstream_gene_variant MELA-AU 1 150968216 150968216 single base substitution C T downstream_gene_variant MELA-AU 1 150969089 150969089 single base substitution G A 3_prime_UTR_variant MELA-AU 1 150969089 150969089 single base substitution G A downstream_gene_variant MELA-AU 1 150969344 150969344 single base substitution G A 3_prime_UTR_variant MELA-AU 1 150969344 150969344 single base substitution G A downstream_gene_variant MELA-AU 1 150969811 150969811 single base substitution C T downstream_gene_variant MELA-AU 1 150969811 150969811 single base substitution C T synonymous_variant G312G 936G>A MELA-AU 1 150969811 150969811 single base substitution C T synonymous_variant G359G 1077G>A MELA-AU 1 150969811 150969811 single base substitution C T synonymous_variant G454G 1362G>A MELA-AU 1 150969811 150969811 single base substitution C T synonymous_variant G502G 1506G>A MELA-AU 1 150969927 150969927 single base substitution G A downstream_gene_variant MELA-AU 1 150969927 150969927 single base substitution G A intron_variant MELA-AU 1 150969927 150969927 single base substitution G A missense_variant S139F 416C>T MELA-AU 1 150970072 150970072 single base substitution G C downstream_gene_variant MELA-AU 1 150970072 150970072 single base substitution G C intron_variant MELA-AU 1 150970072 150970072 single base substitution G C missense_variant P91A 271C>G MELA-AU 1 150970457 150970457 single base substitution G A downstream_gene_variant MELA-AU 1 150970457 150970457 single base substitution G A intron_variant MELA-AU 1 150970908 150970909 multiple base substitution (>=2bp and <=200bp) GC TT downstream_gene_variant MELA-AU 1 150970908 150970909 multiple base substitution (>=2bp and <=200bp) GC TT intron_variant MELA-AU 1 150970908 150970909 multiple base substitution (>=2bp and <=200bp) GC TT upstream_gene_variant MELA-AU 1 150972008 150972008 single base substitution G A intron_variant MELA-AU 1 150972008 150972008 single base substitution G A upstream_gene_variant MELA-AU 1 150972456 150972456 single base substitution G A intron_variant MELA-AU 1 150972456 150972456 single base substitution G A upstream_gene_variant MELA-AU 1 150973010 150973010 single base substitution A T intron_variant MELA-AU 1 150973010 150973010 single base substitution A T missense_variant F125I 373T>A MELA-AU 1 150973010 150973010 single base substitution A T missense_variant F220I 658T>A MELA-AU 1 150973010 150973010 single base substitution A T missense_variant F268I 802T>A MELA-AU 1 150973010 150973010 single base substitution A T missense_variant F78I 232T>A MELA-AU 1 150973010 150973010 single base substitution A T upstream_gene_variant MELA-AU 1 150973964 150973964 single base substitution G A intron_variant MELA-AU 1 150973964 150973964 single base substitution G A upstream_gene_variant MELA-AU 1 150974178 150974178 single base substitution C T intron_variant MELA-AU 1 150974178 150974178 single base substitution C T upstream_gene_variant MELA-AU 1 150974462 150974462 single base substitution C T intron_variant MELA-AU 1 150974462 150974462 single base substitution C T upstream_gene_variant MELA-AU 1 150974526 150974526 single base substitution G A intron_variant MELA-AU 1 150974526 150974526 single base substitution G A upstream_gene_variant MELA-AU 1 150974590 150974590 single base substitution G A intron_variant MELA-AU 1 150974590 150974590 single base substitution G A upstream_gene_variant MELA-AU 1 150974668 150974668 single base substitution G A 5_prime_UTR_variant MELA-AU 1 150974668 150974668 single base substitution G A intron_variant MELA-AU 1 150974668 150974668 single base substitution G A synonymous_variant I142I 426C>T MELA-AU 1 150974668 150974668 single base substitution G A synonymous_variant I190I 570C>T MELA-AU 1 150974668 150974668 single base substitution G A synonymous_variant I47I 141C>T MELA-AU 1 150974668 150974668 single base substitution G A upstream_gene_variant MELA-AU 1 150974736 150974736 single base substitution G A 5_prime_UTR_variant MELA-AU 1 150974736 150974736 single base substitution G A intron_variant MELA-AU 1 150974736 150974736 single base substitution G A missense_variant P120S 358C>T MELA-AU 1 150974736 150974736 single base substitution G A missense_variant P168S 502C>T MELA-AU 1 150974736 150974736 single base substitution G A missense_variant P25S 73C>T MELA-AU 1 150974736 150974736 single base substitution G A upstream_gene_variant MELA-AU 1 150974835 150974835 single base substitution C T 5_prime_UTR_variant MELA-AU 1 150974835 150974835 single base substitution C T intron_variant MELA-AU 1 150974835 150974835 single base substitution C T missense_variant E135K 403G>A MELA-AU 1 150974835 150974835 single base substitution C T missense_variant E87K 259G>A MELA-AU 1 150974835 150974835 single base substitution C T upstream_gene_variant MELA-AU 1 150975022 150975022 single base substitution G A intron_variant MELA-AU 1 150975022 150975022 single base substitution G A synonymous_variant N24N 72C>T MELA-AU 1 150975022 150975022 single base substitution G A synonymous_variant N72N 216C>T MELA-AU 1 150975022 150975022 single base substitution G A upstream_gene_variant MELA-AU 1 150975094 150975094 single base substitution G A 5_prime_UTR_variant MELA-AU 1 150975094 150975094 single base substitution G A intron_variant MELA-AU 1 150975094 150975094 single base substitution G A synonymous_variant T48T 144C>T MELA-AU 1 150975094 150975094 single base substitution G A upstream_gene_variant MELA-AU 1 150975350 150975350 single base substitution A G 5_prime_UTR_variant MELA-AU 1 150975350 150975350 single base substitution A G intron_variant MELA-AU 1 150975350 150975350 single base substitution A G upstream_gene_variant MELA-AU 1 150975921 150975921 single base substitution G A intron_variant MELA-AU 1 150976669 150976669 single base substitution G A intron_variant MELA-AU 1 150976818 150976818 single base substitution A G intron_variant MELA-AU 1 150976895 150976895 single base substitution A G intron_variant MELA-AU 1 150977251 150977251 single base substitution A T intron_variant MELA-AU 1 150978391 150978391 single base substitution T C intron_variant MELA-AU 1 150978943 150978943 single base substitution A C 5_prime_UTR_variant MELA-AU 1 150978943 150978943 single base substitution A C exon_variant MELA-AU 1 150978943 150978943 single base substitution A C intron_variant MELA-AU 1 150979176 150979177 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 1 150979176 150979177 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 1 150979176 150979177 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 150979176 150979177 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 150979578 150979578 single base substitution C T intron_variant MELA-AU 1 150979578 150979578 single base substitution C T upstream_gene_variant MELA-AU 1 150980086 150980086 single base substitution C T intron_variant MELA-AU 1 150980086 150980086 single base substitution C T upstream_gene_variant MELA-AU 1 150980231 150980231 single base substitution T A intron_variant MELA-AU 1 150980231 150980231 single base substitution T A upstream_gene_variant MELA-AU 1 150980600 150980600 single base substitution T A intron_variant MELA-AU 1 150980600 150980600 single base substitution T A upstream_gene_variant MELA-AU 1 150980827 150980827 single base substitution C T 5_prime_UTR_variant MELA-AU 1 150980827 150980827 single base substitution C T upstream_gene_variant MELA-AU 1 150980851 150980851 single base substitution A C 5_prime_UTR_variant MELA-AU 1 150980851 150980851 single base substitution A C upstream_gene_variant MELA-AU 1 150980851 150980851 single base substitution A G 5_prime_UTR_variant MELA-AU 1 150980851 150980851 single base substitution A G upstream_gene_variant MELA-AU 1 150980852 150980852 single base substitution G A upstream_gene_variant MELA-AU 1 150980918 150980918 single base substitution C T upstream_gene_variant MELA-AU 1 150980992 150980992 single base substitution C T upstream_gene_variant MELA-AU 1 150981012 150981012 single base substitution C T upstream_gene_variant MELA-AU 1 150981020 150981020 single base substitution C T upstream_gene_variant MELA-AU 1 150981993 150981993 single base substitution A G upstream_gene_variant MELA-AU 1 150982721 150982721 single base substitution G A upstream_gene_variant MELA-AU 1 150983004 150983004 single base substitution A T upstream_gene_variant MELA-AU 1 150983019 150983019 single base substitution C G upstream_gene_variant MELA-AU 1 150983489 150983489 single base substitution C T upstream_gene_variant MELA-AU 1 150983818 150983818 single base substitution A G upstream_gene_variant MELA-AU 1 150984159 150984159 single base substitution C T upstream_gene_variant MELA-AU 1 150984330 150984330 single base substitution C T upstream_gene_variant MELA-AU 1 150985194 150985194 single base substitution C T upstream_gene_variant MELA-AU 1 150985339 150985339 single base substitution C T upstream_gene_variant MELA-AU 1 150985432 150985432 single base substitution T C upstream_gene_variant MELA-AU 1 150985623 150985623 single base substitution C T upstream_gene_variant MELA-AU 1 150985624 150985624 single base substitution A T upstream_gene_variant MELA-AU 1 150985823 150985823 single base substitution C T upstream_gene_variant ORCA-IN 1 150964120 150964120 single base substitution C T downstream_gene_variant ORCA-IN 1 150974997 150974997 single base substitution C G intron_variant ORCA-IN 1 150974997 150974997 single base substitution C G missense_variant E33Q 97G>C ORCA-IN 1 150974997 150974997 single base substitution C G missense_variant E81Q 241G>C ORCA-IN 1 150974997 150974997 single base substitution C G upstream_gene_variant OV-AU 1 150971283 150971283 single base substitution T A downstream_gene_variant OV-AU 1 150971283 150971283 single base substitution T A intron_variant OV-AU 1 150971283 150971283 single base substitution T A upstream_gene_variant OV-AU 1 150974379 150974379 single base substitution T A intron_variant OV-AU 1 150974379 150974379 single base substitution T A upstream_gene_variant PACA-AU 1 150964931 150964933 deletion of <=200bp AGG - downstream_gene_variant PACA-AU 1 150965883 150965883 single base substitution C G downstream_gene_variant PACA-AU 1 150969813 150969813 single base substitution C A downstream_gene_variant PACA-AU 1 150969813 150969813 single base substitution C A missense_variant G312W 934G>T PACA-AU 1 150969813 150969813 single base substitution C A missense_variant G359W 1075G>T PACA-AU 1 150969813 150969813 single base substitution C A missense_variant G454W 1360G>T PACA-AU 1 150969813 150969813 single base substitution C A missense_variant G502W 1504G>T PACA-AU 1 150974927 150974927 single base substitution G C intron_variant PACA-AU 1 150974927 150974927 single base substitution G C missense_variant A104G 311C>G PACA-AU 1 150974927 150974927 single base substitution G C missense_variant A56G 167C>G PACA-AU 1 150974927 150974927 single base substitution G C upstream_gene_variant PACA-AU 1 150977256 150977256 single base substitution A T intron_variant PACA-AU 1 150977685 150977685 single base substitution T C intron_variant PACA-AU 1 150979458 150979459 deletion of <=200bp CT - intron_variant PACA-AU 1 150979458 150979459 deletion of <=200bp CT - upstream_gene_variant PACA-AU 1 150982535 150982535 deletion of <=200bp C - upstream_gene_variant PACA-CA 1 150964220 150964220 single base substitution G A downstream_gene_variant PACA-CA 1 150966991 150966991 single base substitution T G downstream_gene_variant PACA-CA 1 150967946 150967946 deletion of <=200bp T - downstream_gene_variant PACA-CA 1 150970936 150970936 single base substitution T C downstream_gene_variant PACA-CA 1 150970936 150970936 single base substitution T C intron_variant PACA-CA 1 150970936 150970936 single base substitution T C upstream_gene_variant PACA-CA 1 150985174 150985174 single base substitution G A upstream_gene_variant PBCA-DE 1 150974527 150974527 single base substitution G A intron_variant PBCA-DE 1 150974527 150974527 single base substitution G A upstream_gene_variant PBCA-DE 1 150977251 150977251 single base substitution A T intron_variant PBCA-DE 1 150978126 150978126 single base substitution C T intron_variant READ-US 1 150972986 150972986 single base substitution C A intron_variant READ-US 1 150972986 150972986 single base substitution C A missense_variant V133F 397G>T READ-US 1 150972986 150972986 single base substitution C A missense_variant V228F 682G>T READ-US 1 150972986 150972986 single base substitution C A missense_variant V276F 826G>T READ-US 1 150972986 150972986 single base substitution C A missense_variant V86F 256G>T READ-US 1 150972986 150972986 single base substitution C A upstream_gene_variant RECA-EU 1 150967397 150967397 single base substitution G A downstream_gene_variant RECA-EU 1 150972770 150972770 single base substitution T C intron_variant RECA-EU 1 150972770 150972770 single base substitution T C upstream_gene_variant RECA-EU 1 150977381 150977381 single base substitution G A intron_variant RECA-EU 1 150979062 150979062 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant RECA-EU 1 150979062 150979062 single base substitution G A exon_variant RECA-EU 1 150979062 150979062 single base substitution G A intron_variant RECA-EU 1 150979062 150979062 single base substitution G A upstream_gene_variant RECA-EU 1 150979497 150979497 single base substitution C T intron_variant RECA-EU 1 150979497 150979497 single base substitution C T upstream_gene_variant SKCA-BR 1 150964126 150964126 single base substitution T C downstream_gene_variant SKCA-BR 1 150964862 150964862 single base substitution C T downstream_gene_variant SKCA-BR 1 150965217 150965217 single base substitution G A downstream_gene_variant SKCA-BR 1 150966197 150966197 single base substitution G A downstream_gene_variant SKCA-BR 1 150966624 150966624 single base substitution G A downstream_gene_variant SKCA-BR 1 150967195 150967195 single base substitution T C downstream_gene_variant SKCA-BR 1 150973363 150973363 single base substitution T C intron_variant SKCA-BR 1 150973363 150973363 single base substitution T C upstream_gene_variant SKCA-BR 1 150978810 150978810 single base substitution C T 5_prime_UTR_variant SKCA-BR 1 150978810 150978810 single base substitution C T exon_variant SKCA-BR 1 150978810 150978810 single base substitution C T intron_variant SKCA-BR 1 150980835 150980835 single base substitution C T 5_prime_UTR_variant SKCA-BR 1 150980835 150980835 single base substitution C T upstream_gene_variant SKCA-BR 1 150980839 150980839 single base substitution G C 5_prime_UTR_variant SKCA-BR 1 150980839 150980839 single base substitution G C upstream_gene_variant SKCA-BR 1 150980851 150980851 single base substitution A C 5_prime_UTR_variant SKCA-BR 1 150980851 150980851 single base substitution A C upstream_gene_variant SKCA-BR 1 150980852 150980852 single base substitution G A upstream_gene_variant SKCA-BR 1 150982287 150982287 single base substitution C T upstream_gene_variant SKCM-US 1 150971860 150971860 single base substitution G A downstream_gene_variant SKCM-US 1 150971860 150971860 single base substitution G A synonymous_variant T180T 540C>T SKCM-US 1 150971860 150971860 single base substitution G A synonymous_variant T227T 681C>T SKCM-US 1 150971860 150971860 single base substitution G A synonymous_variant T322T 966C>T SKCM-US 1 150971860 150971860 single base substitution G A synonymous_variant T370T 1110C>T SKCM-US 1 150971860 150971860 single base substitution G A upstream_gene_variant SKCM-US 1 150971957 150971957 single base substitution G A exon_variant SKCM-US 1 150971957 150971957 single base substitution G A missense_variant T148I 443C>T SKCM-US 1 150971957 150971957 single base substitution G A missense_variant T195I 584C>T SKCM-US 1 150971957 150971957 single base substitution G A missense_variant T290I 869C>T SKCM-US 1 150971957 150971957 single base substitution G A missense_variant T338I 1013C>T SKCM-US 1 150971957 150971957 single base substitution G A upstream_gene_variant SKCM-US 1 150971967 150971967 single base substitution G A exon_variant SKCM-US 1 150971967 150971967 single base substitution G A synonymous_variant L145L 433C>T SKCM-US 1 150971967 150971967 single base substitution G A synonymous_variant L192L 574C>T SKCM-US 1 150971967 150971967 single base substitution G A synonymous_variant L287L 859C>T SKCM-US 1 150971967 150971967 single base substitution G A synonymous_variant L335L 1003C>T SKCM-US 1 150971967 150971967 single base substitution G A upstream_gene_variant STAD-US 1 150970118 150970118 single base substitution C T downstream_gene_variant STAD-US 1 150970118 150970118 single base substitution C T synonymous_variant T295T 885G>A STAD-US 1 150970118 150970118 single base substitution C T synonymous_variant T342T 1026G>A STAD-US 1 150970118 150970118 single base substitution C T synonymous_variant T437T 1311G>A STAD-US 1 150970118 150970118 single base substitution C T synonymous_variant T485T 1455G>A STAD-US 1 150970118 150970118 single base substitution C T synonymous_variant T75T 225G>A STAD-US 1 150970742 150970742 single base substitution A G downstream_gene_variant STAD-US 1 150970742 150970742 single base substitution A G missense_variant L188S 563T>C STAD-US 1 150970742 150970742 single base substitution A G missense_variant L235S 704T>C STAD-US 1 150970742 150970742 single base substitution A G missense_variant L330S 989T>C STAD-US 1 150970742 150970742 single base substitution A G missense_variant L378S 1133T>C STAD-US 1 150970742 150970742 single base substitution A G upstream_gene_variant STAD-US 1 150971889 150971889 single base substitution C T exon_variant STAD-US 1 150971889 150971889 single base substitution C T missense_variant V171I 511G>A STAD-US 1 150971889 150971889 single base substitution C T missense_variant V218I 652G>A STAD-US 1 150971889 150971889 single base substitution C T missense_variant V313I 937G>A STAD-US 1 150971889 150971889 single base substitution C T missense_variant V361I 1081G>A STAD-US 1 150971889 150971889 single base substitution C T upstream_gene_variant STAD-US 1 150973067 150973067 single base substitution G A intron_variant STAD-US 1 150973067 150973067 single base substitution G A synonymous_variant L106L 316C>T STAD-US 1 150973067 150973067 single base substitution G A synonymous_variant L201L 601C>T STAD-US 1 150973067 150973067 single base substitution G A synonymous_variant L249L 745C>T STAD-US 1 150973067 150973067 single base substitution G A synonymous_variant L59L 175C>T STAD-US 1 150973067 150973067 single base substitution G A upstream_gene_variant STAD-US 1 150973770 150973770 single base substitution T C exon_variant STAD-US 1 150973770 150973770 single base substitution T C missense_variant K178E 532A>G STAD-US 1 150973770 150973770 single base substitution T C missense_variant K226E 676A>G STAD-US 1 150973770 150973770 single base substitution T C missense_variant K36E 106A>G STAD-US 1 150973770 150973770 single base substitution T C missense_variant K83E 247A>G STAD-US 1 150973770 150973770 single base substitution T C upstream_gene_variant STAD-US 1 150974704 150974704 single base substitution G A 5_prime_UTR_variant STAD-US 1 150974704 150974704 single base substitution G A intron_variant STAD-US 1 150974704 150974704 single base substitution G A synonymous_variant T130T 390C>T STAD-US 1 150974704 150974704 single base substitution G A synonymous_variant T178T 534C>T STAD-US 1 150974704 150974704 single base substitution G A synonymous_variant T35T 105C>T STAD-US 1 150974704 150974704 single base substitution G A upstream_gene_variant STAD-US 1 150975200 150975200 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant STAD-US 1 150975200 150975200 single base substitution A C intron_variant STAD-US 1 150975200 150975200 single base substitution A C upstream_gene_variant UCEC-US 1 150967083 150967083 single base substitution C T downstream_gene_variant UCEC-US 1 150969844 150969844 single base substitution C T 3_prime_UTR_variant UCEC-US 1 150969844 150969844 single base substitution C T downstream_gene_variant UCEC-US 1 150969844 150969844 single base substitution C T splice_acceptor_variant UCEC-US 1 150970249 150970249 single base substitution G T downstream_gene_variant UCEC-US 1 150970249 150970249 single base substitution G T missense_variant L252M 754C>A UCEC-US 1 150970249 150970249 single base substitution G T missense_variant L299M 895C>A UCEC-US 1 150970249 150970249 single base substitution G T missense_variant L32M 94C>A UCEC-US 1 150970249 150970249 single base substitution G T missense_variant L394M 1180C>A UCEC-US 1 150970249 150970249 single base substitution G T missense_variant L442M 1324C>A UCEC-US 1 150971864 150971864 single base substitution C A downstream_gene_variant UCEC-US 1 150971864 150971864 single base substitution C A missense_variant S179I 536G>T UCEC-US 1 150971864 150971864 single base substitution C A missense_variant S226I 677G>T UCEC-US 1 150971864 150971864 single base substitution C A missense_variant S321I 962G>T UCEC-US 1 150971864 150971864 single base substitution C A missense_variant S369I 1106G>T UCEC-US 1 150971864 150971864 single base substitution C A upstream_gene_variant UCEC-US 1 150972430 150972430 single base substitution G A exon_variant UCEC-US 1 150972430 150972430 single base substitution G A missense_variant A107V 320C>T UCEC-US 1 150972430 150972430 single base substitution G A missense_variant A154V 461C>T UCEC-US 1 150972430 150972430 single base substitution G A missense_variant A249V 746C>T UCEC-US 1 150972430 150972430 single base substitution G A missense_variant A297V 890C>T UCEC-US 1 150972430 150972430 single base substitution G A upstream_gene_variant UCEC-US 1 150974841 150974841 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 1 150974841 150974841 single base substitution G T intron_variant UCEC-US 1 150974841 150974841 single base substitution G T missense_variant L133M 397C>A UCEC-US 1 150974841 150974841 single base substitution G T missense_variant L85M 253C>A UCEC-US 1 150974841 150974841 single base substitution G T upstream_gene_variant UCEC-US 1 150975079 150975079 single base substitution C T intron_variant UCEC-US 1 150975079 150975079 single base substitution C T synonymous_variant Q53Q 159G>A UCEC-US 1 150975079 150975079 single base substitution C T synonymous_variant Q5Q 15G>A UCEC-US 1 150975079 150975079 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-ER-A19B-06 COSM3473556 c.869C>T p.T290I Substitution - Missense 1:150999481-150999481 - TCGA-A6-5665-01 COSM1333911 c.1096C>A p.L366M Substitution - Missense 1:150998159-150998159 - TCGA-18-3409-01 COSM675510 c.946C>T p.R316* Substitution - Nonsense 1:150999404-150999404 - BD10T COSM5514482 c.981+7C>T p.? Unknown 1:150999362-150999362 - 585208 COSM325319 c.548C>T p.S183L Substitution - Missense 1:151001278-151001278 - RH30SJ_ COSM3750348 c.123A>T p.R41S Substitution - Missense 1:151002495-151002495 - CSCC-55-T COSM4510165 c.684C>T p.V228V Substitution - coding silent 1:151000508-151000508 - TCGA-B5-A0K9-01 COSM895662 c.1370G>A p.R457Q Substitution - Missense 1:150997327-150997327 - TCGA-BT-A2LB-01 COSM3788661 c.796A>G p.I266V Substitution - Missense 1:150999904-150999904 - HCC61T COSM1600779 c.703C>T p.P235S Substitution - Missense 1:151000489-151000489 - TCGA-18-3409-01 COSM675508 c.861G>A p.L287L Substitution - coding silent 1:150999489-150999489 - TCGA-AP-A0LF-01 COSM895663 c.1330-1G>A p.? Unknown 1:150997368-150997368 - 2497779 COSM5750675 c.1234G>T p.D412Y Substitution - Missense 1:150997719-150997719 - TCGA-EE-A181-06 COSM3473555 c.966C>T p.T322T Substitution - coding silent 1:150999384-150999384 - SNUH_G26_S1 COSM3996914 c.227C>T p.A76V Substitution - Missense 1:151002391-151002391 - HCC121T COSM1600778 c.715G>C p.G239R Substitution - Missense 1:151000477-151000477 - TCGA-39-5030-01 COSM675506 c.149G>A p.R50Q Substitution - Missense 1:151002469-151002469 - TCGA-BR-8487-01 COSM4022099 c.601C>T p.L201L Substitution - coding silent 1:151000591-151000591 - TCGA-AX-A0J1-01 COSM895668 c.253C>A p.L85M Substitution - Missense 1:151002365-151002365 - OSCC-GB_00730111 COSM4889050 c.97G>C p.E33Q Substitution - Missense 1:151002521-151002521 - LC_C21 COSM1185590 c.1300C>T p.R434W Substitution - Missense 1:150997653-150997653 - ESO-157 COSM1251940 c.518G>A p.C173Y Substitution - Missense 1:151001308-151001308 - HCT116 COSM2182896 c.711C>T p.Y237Y Substitution - coding silent 1:151000481-151000481 - TCGA-BR-8487-01 COSM1251941 c.1311G>A p.T437T Substitution - coding silent 1:150997642-150997642 - TCGA-BT-A20Q-01 COSM414078 c.265G>C p.E89Q Substitution - Missense 1:151002353-151002353 - 8066500 COSM3771447 c.1360G>T p.G454W Substitution - Missense 1:150997337-150997337 - S00947 COSM311074 c.1117G>T p.G373W Substitution - Missense 1:150998138-150998138 - TCGA-AC-A23H-01 COSM3801786 c.727G>A p.D243N Substitution - Missense 1:151000465-151000465 - ESCC-153T COSM3934084 c.375G>A p.Q125Q Substitution - coding silent 1:151002243-151002243 - 8068554 COSM4387893 c.167C>G p.A56G Substitution - Missense 1:151002451-151002451 - TCGA-CD-A4MG-01 COSM4022100 c.532A>G p.K178E Substitution - Missense 1:151001294-151001294 - TCGA-AP-A051-01 COSM895666 c.746C>T p.A249V Substitution - Missense 1:150999954-150999954 - TCGA-A2-A0T5-01 COSM3801785 c.785T>G p.V262G Substitution - Missense 1:150999915-150999915 - ESCC_43 COSM2182884 c.1221G>A p.P407P Substitution - coding silent 1:150997732-150997732 - ESO-838 COSM1251941 c.1311G>A p.T437T Substitution - coding silent 1:150997642-150997642 - TCGA-18-3409-01 COSM675507 c.858C>T p.F286F Substitution - coding silent 1:150999492-150999492 - T3090 COSM4683115 c.384C>T p.I128I Substitution - coding silent 1:151002234-151002234 - TCGA-CD-A4MG-01 COSM4022097 c.989T>C p.L330S Substitution - Missense 1:150998266-150998266 - 2492708 COSM5718335 c.505C>T p.H169Y Substitution - Missense 1:151001731-151001731 - TCGA-FD-A3SO-01 COSM3788660 c.828C>T p.L276L Substitution - coding silent 1:150999872-150999872 - TCGA-BH-A0HW-01 COSM423799 c.533A>T p.K178M Substitution - Missense 1:151001293-151001293 - TCGA-66-2777-01 COSM675509 c.921G>A p.K307K Substitution - coding silent 1:150999429-150999429 - TCGA-04-1367-01 COSM70721 c.1121C>T p.P374L Substitution - Missense 1:150998134-150998134 - PAPNNX COSM5004950 c.468G>A p.P156P Substitution - coding silent 1:151001768-151001768 - NB-2074 COSM1284856 c.1023G>T p.Q341H Substitution - Missense 1:150998232-150998232 - TCGA-CG-5728-01 COSM4022098 c.937G>A p.V313I Substitution - Missense 1:150999413-150999413 - 587376 COSM1206406 c.945C>A p.F315L Substitution - Missense 1:150999405-150999405 - 61 COSM5735631 c.594G>T p.M198I Substitution - Missense 1:151000598-151000598 - HCC121 COSM1600778 c.715G>C p.G239R Substitution - Missense 1:151000477-151000477 - PT32 COSM5907141 c.358C>T p.P120S Substitution - Missense 1:151002260-151002260 - 2492709 COSM5718335 c.505C>T p.H169Y Substitution - Missense 1:151001731-151001731 - RMS110_ COSM3750348 c.123A>T p.R41S Substitution - Missense 1:151002495-151002495 - YUMUL COSM5377575 c.1308G>A p.R436R Substitution - coding silent 1:150997645-150997645 - TCGA-D1-A103-01 COSM895669 c.15G>A p.Q5Q Substitution - coding silent 1:151002603-151002603 - TCGA-D3-A3MV-06 COSM3473557 c.859C>T p.L287L Substitution - coding silent 1:150999491-150999491 - sysucc-1370T COSM5469620 c.1307G>A p.R436Q Substitution - Missense 1:150997646-150997646 - HCC137T COSM1600777 c.793A>G p.I265V Substitution - Missense 1:150999907-150999907 - ESCC_BICR_042T COSM5443600 c.4G>A p.E2K Substitution - Missense 1:151002614-151002614 - TCGA-D8-A1JA-01 COSM3801784 c.1273C>G p.Q425E Substitution - Missense 1:150997680-150997680 - TCGA-06-0211-02 COSM2150738 c.99G>A p.E33E Substitution - coding silent 1:151002519-151002519 - SC_9083 COSM5570949 c.649G>A p.V217I Substitution - Missense 1:151000543-151000543 - TCGA-22-4601-01 COSM675511 c.1244T>A p.L415Q Substitution - Missense 1:150997709-150997709 - HN_62807 COSM123028 c.1036G>C p.V346L Substitution - Missense 1:150998219-150998219 - HCC61 COSM1600779 c.703C>T p.P235S Substitution - Missense 1:151000489-151000489 - HCC137 COSM1600777 c.793A>G p.I265V Substitution - Missense 1:150999907-150999907 - TCGA-06-0211 COSM2150738 c.99G>A p.E33E Substitution - coding silent 1:151002519-151002519 - LC_C15 COSM1185591 c.320G>A p.R107Q Substitution - Missense 1:151002298-151002298 - TCGA-AA-A010-01 COSM281003 c.453+9A>G p.? Unknown 1:151002156-151002156 - TCGA-AM-5821-01 COSM3750348 c.123A>T p.R41S Substitution - Missense 1:151002495-151002495 - TCGA-D1-A103-01 COSM895665 c.962G>T p.S321I Substitution - Missense 1:150999388-150999388 - TCGA-BS-A0U7-01 COSM895667 c.402C>T p.N134N Substitution - coding silent 1:151002216-151002216 - TCGA-E9-A1R5-01 COSM1472593 c.1363G>A p.E455K Substitution - Missense 1:150997334-150997334 - 1N65-VS-1T65 COSM4978106 c.1311G>C p.T437T Substitution - coding silent 1:150997642-150997642 - 1517_PT COSM2182895 c.735G>T p.Q245H Substitution - Missense 1:151000457-151000457 - 2492710 COSM5718335 c.505C>T p.H169Y Substitution - Missense 1:151001731-151001731 - 1517_PT COSM5754194 c.428T>C p.M143T Substitution - Missense 1:151002190-151002190 - HCC60T COSM1600776 c.1330-5T>C p.? Unknown 1:150997372-150997372 - TCGA-HF-7133-01 COSM4022101 c.390C>T p.T130T Substitution - coding silent 1:151002228-151002228 - RK090_C01 COSM3700482 c.684C>G p.V228V Substitution - coding silent 1:151000508-151000508 - TCGA-CF-A1HS-01 COSM414079 c.622C>A p.L208M Substitution - Missense 1:151000570-151000570 - HCC60 COSM1600776 c.1330-5T>C p.? Unknown 1:150997372-150997372 - YUKAT COSM5377577 c.1147C>T p.P383S Substitution - Missense 1:150998108-150998108 - YUMER COSM1688507 c.527C>T p.S176F Substitution - Missense 1:151001299-151001299 - TCGA-D1-A103-01 COSM895664 c.1180C>A p.L394M Substitution - Missense 1:150997773-150997773 - BN50T COSM1600776 c.1330-5T>C p.? Unknown 1:150997372-150997372 - S00947 COSM311074 c.1117G>T p.G373W Substitution - Missense 1:150998138-150998138 - TCGA-DY-A1DD-01 COSM1560005 c.682G>T p.V228F Substitution - Missense 1:151000510-151000510 - PTC-14C COSM4142607 c.1046G>T p.S349I Substitution - Missense 1:150998209-150998209 - 1517_CLM COSM2182895 c.735G>T p.Q245H Substitution - Missense 1:151000457-151000457 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.3346 1q21.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.1-671T>G 1 150979302 PIA AG GA IntronicBlockSubstitution . c.1474-42_1474-41delinsTC 1 150969884 CM AGTC - Frameshift p.D411Ffs*3 c.1231_1234delGACT 1 150970641 LUAD A T Missense p.L463Q c.1388T>A 1 150970185 LUSC C A Missense p.G421W c.1261G>T 1 150970614 SCLC C A Missense p.Q389H c.1167G>T 1 150970708 NB C A Missense p.R98L c.293G>T 1 150974945 HNSC C G Missense p.E137Q c.409G>C 1 150974829 BLCA C G Missense p.R153S c.459G>C 1 150974779 HNSC C G Missense p.V394L c.1180G>C 1 150970695 HNSC C T Missense p.E503K c.1507G>A 1 150969810 BRCA C T Missense p.R98Q c.293G>A 1 150974945 LUSC C T Missense p.V361I c.1081G>A 1 150971889 STAD C T SpliceAcceptorSNV . c.1474-1G>A 1 150969844 UCEC C T Synonymous p.E81E c.243G>A 1 150974995 GBM C T Synonymous p.K355K c.1065G>A 1 150971905 LUSC C T Synonymous p.T485T c.1455G>A 1 150970118 ESCA G A IntronicSNV . c.1473+12C>T 1 150970088 CM G A Missense p.P422L c.1265C>T 1 150970610 OV G A Missense p.P500L c.1499C>T 1 150969818 GBM G A Missense p.R504C c.1510C>T 1 150969807 HNSC G A Missense p.S231L c.692C>T 1 150973754 SCLC G A Missense p.T129I c.386C>T 1 150974852 CM G A Missense p.T338I c.1013C>T 1 150971957 CM G A Synonymous p.L335L c.1003C>T 1 150971967 CM G A Synonymous p.T370T c.1110C>T 1 150971860 CM G C Synonymous p.V276V c.828C>G 1 150972984 HNSC GG AA Missense p.P70S c.207_208delinsTT 1 150975030 CM G T Missense p.L256M c.766C>A 1 150973046 BLCA G T Missense p.P431Q c.1292C>A 1 150970583 CM T A Missense p.K226M c.677A>T 1 150973769 BRCA T C Missense p.I314V c.940A>G 1 150972380 BLCA T C Missense p.Q293R c.878A>G 1 150972934 CM