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 BRCA 6 127607966 127607966 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr6:127607966C>T c.208C>T c.(208-210)Cgg>Tgg p.R70W BRCA 6 127608175 127608175 + Missense_Mutation SNP A A C TCGA-D8-A27H-01A-11D-A16D-09 TCGA-D8-A27H-10A-01D-A16D-09 g.chr6:127608175A>C c.417A>C c.(415-417)ttA>ttC p.L139F BRCA 6 127608398 127608398 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr6:127608398C>T c.640C>T c.(640-642)Ccc>Tcc p.P214S BRCA 6 127608744 127608744 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr6:127608744C>T c.986C>T c.(985-987)tCg>tTg p.S329L CESC 6 127608557 127608557 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 g.chr6:127608557G>C c.799G>C c.(799-801)Gaa>Caa p.E267Q CESC 6 127608657 127608657 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr6:127608657C>G c.899C>G c.(898-900)tCt>tGt p.S300C COAD 6 127608074 127608074 + Missense_Mutation SNP T T C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr6:127608074T>C c.316T>C c.(316-318)Tgg>Cgg p.W106R COAD 6 127608260 127608260 + Nonsense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:127608260C>T c.502C>T c.(502-504)Cga>Tga p.R168* COAD 6 127608355 127608355 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:127608355C>T c.597C>T c.(595-597)gaC>gaT p.D199D COAD 6 127608423 127608423 + Missense_Mutation SNP T T C TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr6:127608423T>C c.665T>C c.(664-666)cTa>cCa p.L222P COAD 6 127608469 127608469 + Silent SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:127608469T>C c.711T>C c.(709-711)ccT>ccC p.P237P COAD 6 127608566 127608566 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:127608566C>A c.808C>A c.(808-810)Cat>Aat p.H270N COADREAD 6 127608074 127608074 + Missense_Mutation SNP T T C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr6:127608074T>C c.316T>C c.(316-318)Tgg>Cgg p.W106R COADREAD 6 127608260 127608260 + Nonsense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:127608260C>T c.502C>T c.(502-504)Cga>Tga p.R168* COADREAD 6 127608355 127608355 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:127608355C>T c.597C>T c.(595-597)gaC>gaT p.D199D COADREAD 6 127608423 127608423 + Missense_Mutation SNP T T C TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr6:127608423T>C c.665T>C c.(664-666)cTa>cCa p.L222P COADREAD 6 127608469 127608469 + Silent SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:127608469T>C c.711T>C c.(709-711)ccT>ccC p.P237P COADREAD 6 127608566 127608566 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:127608566C>A c.808C>A c.(808-810)Cat>Aat p.H270N ESCA 6 127608469 127608469 + Silent SNP T T C TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 g.chr6:127608469T>C c.711T>C c.(709-711)ccT>ccC p.P237P GBMLGG 6 127607801 127607801 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:127607801C>T c.43C>T c.(43-45)Ctt>Ttt p.L15F GBMLGG 6 127608039 127608039 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:127608039T>C c.281T>C c.(280-282)cTc>cCc p.L94P HNSC 6 127607815 127607815 + Silent SNP G G A TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr6:127607815G>A c.57G>A c.(55-57)agG>agA p.R19R HNSC 6 127607982 127607982 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 g.chr6:127607982G>A c.224G>A c.(223-225)cGa>cAa p.R75Q HNSC 6 127608113 127608116 + Frame_Shift_Del DEL GAGC GAGC - TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 g.chr6:127608113_127608116delGAGC c.355_358delGAGC c.(355-360)gagcgcfs p.ER119fs LGG 6 127607801 127607801 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:127607801C>T c.43C>T c.(43-45)Ctt>Ttt p.L15F LGG 6 127608039 127608039 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:127608039T>C c.281T>C c.(280-282)cTc>cCc p.L94P LIHC 6 127607830 127607830 + Silent SNP C C T TCGA-DD-A3A9-01A-11D-A25V-10 TCGA-DD-A3A9-11A-11D-A25V-10 g.chr6:127607830C>T c.72C>T c.(70-72)tcC>tcT p.S24S LIHC 6 127607967 127607967 + Missense_Mutation SNP G G T TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr6:127607967G>T c.209G>T c.(208-210)cGg>cTg p.R70L LIHC 6 127608258 127608258 + Missense_Mutation SNP A A C TCGA-G3-A3CK-01A-11D-A20W-10 TCGA-G3-A3CK-10A-01D-A20W-10 g.chr6:127608258A>C c.500A>C c.(499-501)aAg>aCg p.K167T LIHC 6 127608496 127608496 + Silent SNP T T C TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr6:127608496T>C c.738T>C c.(736-738)tcT>tcC p.S246S LUSC 6 127608136 127608136 + Silent SNP A A G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 g.chr6:127608136A>G c.378A>G c.(376-378)gaA>gaG p.E126E LUSC 6 127608771 127608771 + Missense_Mutation SNP G G A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 g.chr6:127608771G>A c.1013G>A c.(1012-1014)gGt>gAt p.G338D OV 6 127608348 127608348 + Missense_Mutation SNP C C T TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 g.chr6:127608348C>T c.590C>T c.(589-591)tCt>tTt p.S197F OV 6 127608473 127608473 + Missense_Mutation SNP G G A TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 g.chr6:127608473G>A c.715G>A c.(715-717)Gca>Aca p.A239T PAAD 6 127608109 127608109 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:127608109C>T c.351C>T c.(349-351)taC>taT p.Y117Y PAAD 6 127608756 127608756 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:127608756G>A c.998G>A c.(997-999)cGa>cAa p.R333Q SKCM 6 127607950 127607950 + Silent SNP T T G TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 g.chr6:127607950T>G c.192T>G c.(190-192)gcT>gcG p.A64A SKCM 6 127608556 127608558 + In_Frame_Del DEL AGA AGA - TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 g.chr6:127608556_127608558delAGA c.798_800delAGA c.(796-801)ggagaa>gga p.E268del SKCM 6 127608726 127608726 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr6:127608726C>T c.968C>T c.(967-969)cCc>cTc p.P323L

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 6 127611373 127611373 single base substitution T C downstream_gene_variant BOCA-FR 6 127587640 127587640 single base substitution G A upstream_gene_variant BOCA-FR 6 127607748 127607748 insertion of <=200bp - ATATTTAATATTTAATAA downstream_gene_variant BOCA-FR 6 127607748 127607748 insertion of <=200bp - ATATTTAATATTTAATAA intron_variant BRCA-EU 6 127585025 127585025 single base substitution G C upstream_gene_variant BRCA-EU 6 127586329 127586329 single base substitution A G upstream_gene_variant BRCA-EU 6 127586466 127586466 single base substitution G T upstream_gene_variant BRCA-EU 6 127586524 127586524 single base substitution T C upstream_gene_variant BRCA-EU 6 127587301 127587301 single base substitution A C upstream_gene_variant BRCA-EU 6 127587449 127587449 deletion of <=200bp T - upstream_gene_variant BRCA-EU 6 127587906 127587906 single base substitution C T 5_prime_UTR_variant BRCA-EU 6 127587906 127587906 single base substitution C T upstream_gene_variant BRCA-EU 6 127589386 127589386 single base substitution G A intron_variant BRCA-EU 6 127589536 127589536 single base substitution G C intron_variant BRCA-EU 6 127590259 127590259 single base substitution T C intron_variant BRCA-EU 6 127590945 127590945 deletion of <=200bp T - intron_variant BRCA-EU 6 127590953 127590953 single base substitution G C intron_variant BRCA-EU 6 127592974 127592974 single base substitution T G intron_variant BRCA-EU 6 127593446 127593446 single base substitution T C intron_variant BRCA-EU 6 127594706 127594706 insertion of <=200bp - A intron_variant BRCA-EU 6 127594875 127594875 single base substitution G T intron_variant BRCA-EU 6 127595318 127595318 deletion of <=200bp T - intron_variant BRCA-EU 6 127597189 127597189 single base substitution G C intron_variant BRCA-EU 6 127597751 127597751 single base substitution G T intron_variant BRCA-EU 6 127597772 127597772 single base substitution C T intron_variant BRCA-EU 6 127598893 127598893 single base substitution G T intron_variant BRCA-EU 6 127599212 127599212 single base substitution T C intron_variant BRCA-EU 6 127600116 127600116 single base substitution T C intron_variant BRCA-EU 6 127600989 127600989 single base substitution T G intron_variant BRCA-EU 6 127601063 127601063 single base substitution T G intron_variant BRCA-EU 6 127601343 127601343 single base substitution C T intron_variant BRCA-EU 6 127603098 127603098 single base substitution G A downstream_gene_variant BRCA-EU 6 127603098 127603098 single base substitution G A intron_variant BRCA-EU 6 127604562 127604562 single base substitution C G downstream_gene_variant BRCA-EU 6 127604562 127604562 single base substitution C G intron_variant BRCA-EU 6 127605251 127605251 single base substitution G A downstream_gene_variant BRCA-EU 6 127605251 127605251 single base substitution G A intron_variant BRCA-EU 6 127606531 127606531 single base substitution G A downstream_gene_variant BRCA-EU 6 127606531 127606531 single base substitution G A intron_variant BRCA-EU 6 127606978 127606978 single base substitution A T intron_variant BRCA-EU 6 127607277 127607277 deletion of <=200bp T - 5_prime_UTR_variant BRCA-EU 6 127607277 127607277 deletion of <=200bp T - downstream_gene_variant BRCA-EU 6 127607277 127607277 deletion of <=200bp T - frameshift_variant F29 BRCA-EU 6 127607277 127607277 deletion of <=200bp T - frameshift_variant F31 BRCA-EU 6 127607277 127607277 deletion of <=200bp T - intron_variant BRCA-EU 6 127608392 127608392 single base substitution G C 3_prime_UTR_variant BRCA-EU 6 127608392 127608392 single base substitution G C downstream_gene_variant BRCA-EU 6 127608392 127608392 single base substitution G C missense_variant V211L 631G>C BRCA-EU 6 127608392 127608392 single base substitution G C missense_variant V212L 634G>C BRCA-EU 6 127609860 127609860 single base substitution T A downstream_gene_variant BRCA-EU 6 127610724 127610724 single base substitution A G downstream_gene_variant BRCA-EU 6 127613076 127613076 single base substitution G A downstream_gene_variant BRCA-EU 6 127614482 127614482 single base substitution G A downstream_gene_variant BRCA-EU 6 127614485 127614485 single base substitution G A downstream_gene_variant BRCA-EU 6 127614490 127614490 single base substitution A G downstream_gene_variant BRCA-EU 6 127614536 127614536 single base substitution G T downstream_gene_variant BRCA-EU 6 127614572 127614572 single base substitution G C downstream_gene_variant BRCA-UK 6 127614517 127614517 single base substitution G A downstream_gene_variant BRCA-US 6 127607966 127607966 single base substitution C T 3_prime_UTR_variant BRCA-US 6 127607966 127607966 single base substitution C T downstream_gene_variant BRCA-US 6 127607966 127607966 single base substitution C T exon_variant BRCA-US 6 127607966 127607966 single base substitution C T missense_variant R69W 205C>T BRCA-US 6 127607966 127607966 single base substitution C T missense_variant R70W 208C>T BRCA-US 6 127608175 127608175 single base substitution A C 3_prime_UTR_variant BRCA-US 6 127608175 127608175 single base substitution A C downstream_gene_variant BRCA-US 6 127608175 127608175 single base substitution A C missense_variant L138F 414A>C BRCA-US 6 127608175 127608175 single base substitution A C missense_variant L139F 417A>C BRCA-US 6 127608398 127608398 single base substitution C T 3_prime_UTR_variant BRCA-US 6 127608398 127608398 single base substitution C T downstream_gene_variant BRCA-US 6 127608398 127608398 single base substitution C T missense_variant P213S 637C>T BRCA-US 6 127608398 127608398 single base substitution C T missense_variant P214S 640C>T BRCA-US 6 127608744 127608744 single base substitution C T 3_prime_UTR_variant BRCA-US 6 127608744 127608744 single base substitution C T downstream_gene_variant BRCA-US 6 127608744 127608744 single base substitution C T missense_variant S328L 983C>T BRCA-US 6 127608744 127608744 single base substitution C T missense_variant S329L 986C>T BRCA-US 6 127611347 127611347 single base substitution G T downstream_gene_variant BTCA-JP 6 127601334 127601334 single base substitution A G intron_variant BTCA-JP 6 127607862 127607862 single base substitution C A 3_prime_UTR_variant BTCA-JP 6 127607862 127607862 single base substitution C A downstream_gene_variant BTCA-JP 6 127607862 127607862 single base substitution C A exon_variant BTCA-JP 6 127607862 127607862 single base substitution C A missense_variant P34H 101C>A BTCA-JP 6 127607862 127607862 single base substitution C A missense_variant P35H 104C>A BTCA-JP 6 127608927 127608927 single base substitution C T 3_prime_UTR_variant BTCA-JP 6 127608927 127608927 single base substitution C T downstream_gene_variant CESC-US 6 127608557 127608557 single base substitution G C 3_prime_UTR_variant CESC-US 6 127608557 127608557 single base substitution G C downstream_gene_variant CESC-US 6 127608557 127608557 single base substitution G C missense_variant E266Q 796G>C CESC-US 6 127608557 127608557 single base substitution G C missense_variant E267Q 799G>C CESC-US 6 127608657 127608657 single base substitution C G 3_prime_UTR_variant CESC-US 6 127608657 127608657 single base substitution C G downstream_gene_variant CESC-US 6 127608657 127608657 single base substitution C G missense_variant S299C 896C>G CESC-US 6 127608657 127608657 single base substitution C G missense_variant S300C 899C>G CESC-US 6 127611068 127611068 single base substitution C T downstream_gene_variant CESC-US 6 127611226 127611226 single base substitution C T downstream_gene_variant COAD-US 6 127608074 127608074 single base substitution T C 3_prime_UTR_variant COAD-US 6 127608074 127608074 single base substitution T C downstream_gene_variant COAD-US 6 127608074 127608074 single base substitution T C exon_variant COAD-US 6 127608074 127608074 single base substitution T C missense_variant W105R 313T>C COAD-US 6 127608074 127608074 single base substitution T C missense_variant W106R 316T>C COAD-US 6 127608355 127608355 single base substitution C T 3_prime_UTR_variant COAD-US 6 127608355 127608355 single base substitution C T downstream_gene_variant COAD-US 6 127608355 127608355 single base substitution C T synonymous_variant D198D 594C>T COAD-US 6 127608355 127608355 single base substitution C T synonymous_variant D199D 597C>T COAD-US 6 127608469 127608469 single base substitution T C 3_prime_UTR_variant COAD-US 6 127608469 127608469 single base substitution T C downstream_gene_variant COAD-US 6 127608469 127608469 single base substitution T C synonymous_variant P236P 708T>C COAD-US 6 127608469 127608469 single base substitution T C synonymous_variant P237P 711T>C COAD-US 6 127611273 127611273 deletion of <=200bp T - downstream_gene_variant COAD-US 6 127611345 127611345 single base substitution C A downstream_gene_variant COCA-CN 6 127608820 127608820 single base substitution C T 3_prime_UTR_variant COCA-CN 6 127608820 127608820 single base substitution C T downstream_gene_variant COCA-CN 6 127608820 127608820 single base substitution C T synonymous_variant C353C 1059C>T COCA-CN 6 127608820 127608820 single base substitution C T synonymous_variant C354C 1062C>T COCA-CN 6 127611010 127611010 single base substitution C A downstream_gene_variant COCA-CN 6 127611066 127611066 single base substitution C T downstream_gene_variant ESAD-UK 6 127583438 127583438 single base substitution T G upstream_gene_variant ESAD-UK 6 127584353 127584353 single base substitution G C upstream_gene_variant ESAD-UK 6 127585227 127585227 single base substitution T G upstream_gene_variant ESAD-UK 6 127585609 127585609 single base substitution G A upstream_gene_variant ESAD-UK 6 127586411 127586411 single base substitution A C upstream_gene_variant ESAD-UK 6 127587457 127587457 single base substitution A T upstream_gene_variant ESAD-UK 6 127587979 127587979 single base substitution G C 5_prime_UTR_variant ESAD-UK 6 127587979 127587979 single base substitution G C upstream_gene_variant ESAD-UK 6 127589036 127589036 single base substitution C T intron_variant ESAD-UK 6 127595220 127595220 single base substitution T A intron_variant ESAD-UK 6 127595959 127595959 single base substitution G A intron_variant ESAD-UK 6 127597857 127597857 single base substitution G A intron_variant ESAD-UK 6 127600659 127600659 single base substitution A C intron_variant ESAD-UK 6 127601516 127601516 single base substitution C T exon_variant ESAD-UK 6 127601516 127601516 single base substitution C T intron_variant ESAD-UK 6 127602951 127602951 single base substitution T G downstream_gene_variant ESAD-UK 6 127602951 127602951 single base substitution T G intron_variant ESAD-UK 6 127605385 127605385 single base substitution G A downstream_gene_variant ESAD-UK 6 127605385 127605385 single base substitution G A intron_variant ESAD-UK 6 127607547 127607547 single base substitution T C downstream_gene_variant ESAD-UK 6 127607547 127607547 single base substitution T C intron_variant ESAD-UK 6 127611881 127611881 single base substitution C T downstream_gene_variant ESAD-UK 6 127612359 127612359 single base substitution C T downstream_gene_variant ESAD-UK 6 127614052 127614052 single base substitution T G downstream_gene_variant ESAD-UK 6 127614654 127614654 single base substitution A C downstream_gene_variant KIRC-US 6 127611269 127611269 single base substitution A G downstream_gene_variant KIRP-US 6 127611395 127611395 single base substitution T C downstream_gene_variant LAML-KR 6 127608184 127608184 single base substitution C A 3_prime_UTR_variant LAML-KR 6 127608184 127608184 single base substitution C A downstream_gene_variant LAML-KR 6 127608184 127608184 single base substitution C A synonymous_variant G141G 423C>A LAML-KR 6 127608184 127608184 single base substitution C A synonymous_variant G142G 426C>A LICA-CN 6 127608569 127608569 single base substitution G T 3_prime_UTR_variant LICA-CN 6 127608569 127608569 single base substitution G T downstream_gene_variant LICA-CN 6 127608569 127608569 single base substitution G T stop_gained E270* 808G>T LICA-CN 6 127608569 127608569 single base substitution G T stop_gained E271* 811G>T LICA-FR 6 127585793 127585793 single base substitution C A upstream_gene_variant LICA-FR 6 127593338 127593338 single base substitution G T intron_variant LICA-FR 6 127608269 127608269 single base substitution A G 3_prime_UTR_variant LICA-FR 6 127608269 127608269 single base substitution A G downstream_gene_variant LICA-FR 6 127608269 127608269 single base substitution A G missense_variant I170V 508A>G LICA-FR 6 127608269 127608269 single base substitution A G missense_variant I171V 511A>G LICA-FR 6 127611345 127611345 single base substitution C G downstream_gene_variant LIHC-US 6 127607830 127607830 single base substitution C T 3_prime_UTR_variant LIHC-US 6 127607830 127607830 single base substitution C T downstream_gene_variant LIHC-US 6 127607830 127607830 single base substitution C T exon_variant LIHC-US 6 127607830 127607830 single base substitution C T synonymous_variant S23S 69C>T LIHC-US 6 127607830 127607830 single base substitution C T synonymous_variant S24S 72C>T LIHC-US 6 127608258 127608258 single base substitution A C 3_prime_UTR_variant LIHC-US 6 127608258 127608258 single base substitution A C downstream_gene_variant LIHC-US 6 127608258 127608258 single base substitution A C missense_variant K166T 497A>C LIHC-US 6 127608258 127608258 single base substitution A C missense_variant K167T 500A>C LIHC-US 6 127608496 127608496 single base substitution T C 3_prime_UTR_variant LIHC-US 6 127608496 127608496 single base substitution T C downstream_gene_variant LIHC-US 6 127608496 127608496 single base substitution T C synonymous_variant S245S 735T>C LIHC-US 6 127608496 127608496 single base substitution T C synonymous_variant S246S 738T>C LINC-JP 6 127597708 127597708 single base substitution T C intron_variant LINC-JP 6 127602294 127602294 single base substitution A G downstream_gene_variant LINC-JP 6 127602294 127602294 single base substitution A G intron_variant LINC-JP 6 127608128 127608128 single base substitution G A 3_prime_UTR_variant LINC-JP 6 127608128 127608128 single base substitution G A downstream_gene_variant LINC-JP 6 127608128 127608128 single base substitution G A missense_variant E123K 367G>A LINC-JP 6 127608128 127608128 single base substitution G A missense_variant E124K 370G>A LINC-JP 6 127608160 127608160 single base substitution G A 3_prime_UTR_variant LINC-JP 6 127608160 127608160 single base substitution G A downstream_gene_variant LINC-JP 6 127608160 127608160 single base substitution G A synonymous_variant K133K 399G>A LINC-JP 6 127608160 127608160 single base substitution G A synonymous_variant K134K 402G>A LINC-JP 6 127608170 127608170 single base substitution A C 3_prime_UTR_variant LINC-JP 6 127608170 127608170 single base substitution A C downstream_gene_variant LINC-JP 6 127608170 127608170 single base substitution A C missense_variant M137L 409A>C LINC-JP 6 127608170 127608170 single base substitution A C missense_variant M138L 412A>C LINC-JP 6 127610890 127610890 single base substitution A C downstream_gene_variant LINC-JP 6 127611393 127611393 single base substitution A C downstream_gene_variant LINC-JP 6 127612361 127612361 single base substitution A T downstream_gene_variant LINC-JP 6 127612471 127612471 single base substitution T A downstream_gene_variant LIRI-JP 6 127583459 127583459 single base substitution T C upstream_gene_variant LIRI-JP 6 127584778 127584778 single base substitution A G upstream_gene_variant LIRI-JP 6 127586024 127586024 single base substitution T C upstream_gene_variant LIRI-JP 6 127587891 127587891 single base substitution G A 5_prime_UTR_variant LIRI-JP 6 127587891 127587891 single base substitution G A upstream_gene_variant LIRI-JP 6 127594245 127594245 single base substitution C T intron_variant LIRI-JP 6 127595119 127595119 single base substitution C T intron_variant LIRI-JP 6 127598643 127598643 single base substitution A G intron_variant LIRI-JP 6 127599850 127599850 single base substitution A C intron_variant LIRI-JP 6 127599854 127599854 single base substitution T C intron_variant LIRI-JP 6 127601260 127601260 single base substitution A T intron_variant LIRI-JP 6 127602383 127602384 deletion of <=200bp AT - downstream_gene_variant LIRI-JP 6 127602383 127602384 deletion of <=200bp AT - intron_variant LIRI-JP 6 127607070 127607070 single base substitution C G intron_variant LIRI-JP 6 127609455 127609455 single base substitution T A 3_prime_UTR_variant LIRI-JP 6 127609455 127609455 single base substitution T A downstream_gene_variant LIRI-JP 6 127609680 127609724 deletion of <=200bp TATATAATAAACATGTATGGAAATAAAACTAAAGCCTGTGAGACT - 3_prime_UTR_variant LIRI-JP 6 127609680 127609724 deletion of <=200bp TATATAATAAACATGTATGGAAATAAAACTAAAGCCTGTGAGACT - downstream_gene_variant LIRI-JP 6 127609680 127609724 deletion of <=200bp TATATAATAAACATGTATGGAAATAAAACTAAAGCCTGTGAGACT - intragenic_variant LIRI-JP 6 127609700 127609700 single base substitution A T 3_prime_UTR_variant LIRI-JP 6 127609700 127609700 single base substitution A T downstream_gene_variant LIRI-JP 6 127611103 127611103 single base substitution A C downstream_gene_variant LIRI-JP 6 127611123 127611123 single base substitution T C downstream_gene_variant LIRI-JP 6 127613274 127613274 single base substitution A G downstream_gene_variant LIRI-JP 6 127613333 127613333 single base substitution A T downstream_gene_variant LIRI-JP 6 127613742 127613742 single base substitution G C downstream_gene_variant LUSC-KR 6 127593078 127593078 single base substitution G A intron_variant LUSC-KR 6 127596319 127596319 single base substitution A T intron_variant LUSC-KR 6 127596634 127596634 single base substitution A T intron_variant LUSC-KR 6 127597204 127597204 single base substitution G C intron_variant LUSC-KR 6 127606033 127606033 single base substitution G A downstream_gene_variant LUSC-KR 6 127606033 127606033 single base substitution G A intron_variant LUSC-KR 6 127608379 127608379 single base substitution G A 3_prime_UTR_variant LUSC-KR 6 127608379 127608379 single base substitution G A downstream_gene_variant LUSC-KR 6 127608379 127608379 single base substitution G A synonymous_variant Q206Q 618G>A LUSC-KR 6 127608379 127608379 single base substitution G A synonymous_variant Q207Q 621G>A LUSC-KR 6 127609480 127609480 single base substitution T G 3_prime_UTR_variant LUSC-KR 6 127609480 127609480 single base substitution T G downstream_gene_variant LUSC-KR 6 127611726 127611726 single base substitution C T downstream_gene_variant LUSC-KR 6 127612323 127612323 single base substitution A G downstream_gene_variant LUSC-US 6 127608136 127608136 single base substitution A G 3_prime_UTR_variant LUSC-US 6 127608136 127608136 single base substitution A G downstream_gene_variant LUSC-US 6 127608136 127608136 single base substitution A G synonymous_variant E125E 375A>G LUSC-US 6 127608136 127608136 single base substitution A G synonymous_variant E126E 378A>G LUSC-US 6 127608771 127608771 single base substitution G A 3_prime_UTR_variant LUSC-US 6 127608771 127608771 single base substitution G A downstream_gene_variant LUSC-US 6 127608771 127608771 single base substitution G A missense_variant G337D 1010G>A LUSC-US 6 127608771 127608771 single base substitution G A missense_variant G338D 1013G>A MALY-DE 6 127586538 127586538 single base substitution A G upstream_gene_variant MALY-DE 6 127586692 127586692 single base substitution C G upstream_gene_variant MALY-DE 6 127587520 127587520 single base substitution C G upstream_gene_variant MALY-DE 6 127594858 127594858 single base substitution A G intron_variant MALY-DE 6 127607308 127607308 single base substitution A C 5_prime_UTR_variant MALY-DE 6 127607308 127607308 single base substitution A C downstream_gene_variant MALY-DE 6 127607308 127607308 single base substitution A C intron_variant MALY-DE 6 127607308 127607308 single base substitution A C missense_variant K39T 116A>C MALY-DE 6 127607308 127607308 single base substitution A C missense_variant K41T 122A>C MALY-DE 6 127609671 127609671 single base substitution G A 3_prime_UTR_variant MALY-DE 6 127609671 127609671 single base substitution G A downstream_gene_variant MELA-AU 6 127582808 127582808 single base substitution G A upstream_gene_variant MELA-AU 6 127583007 127583007 single base substitution C A upstream_gene_variant MELA-AU 6 127583076 127583076 single base substitution G A upstream_gene_variant MELA-AU 6 127583093 127583093 single base substitution C T upstream_gene_variant MELA-AU 6 127583119 127583119 single base substitution G A upstream_gene_variant MELA-AU 6 127583236 127583236 single base substitution G A upstream_gene_variant MELA-AU 6 127583398 127583398 single base substitution G A upstream_gene_variant MELA-AU 6 127583781 127583781 single base substitution G A upstream_gene_variant MELA-AU 6 127584148 127584148 single base substitution C T upstream_gene_variant MELA-AU 6 127584418 127584418 single base substitution G A upstream_gene_variant MELA-AU 6 127584528 127584528 single base substitution G C upstream_gene_variant MELA-AU 6 127584753 127584753 single base substitution G A upstream_gene_variant MELA-AU 6 127584875 127584875 single base substitution G C upstream_gene_variant MELA-AU 6 127584885 127584885 single base substitution A G upstream_gene_variant MELA-AU 6 127584925 127584925 single base substitution A C upstream_gene_variant MELA-AU 6 127585386 127585386 single base substitution G A upstream_gene_variant MELA-AU 6 127585728 127585728 single base substitution G A upstream_gene_variant MELA-AU 6 127585772 127585772 single base substitution C T upstream_gene_variant MELA-AU 6 127586273 127586273 single base substitution G A upstream_gene_variant MELA-AU 6 127586356 127586356 single base substitution G A upstream_gene_variant MELA-AU 6 127586672 127586672 single base substitution C T upstream_gene_variant MELA-AU 6 127587320 127587320 single base substitution T C upstream_gene_variant MELA-AU 6 127588004 127588004 single base substitution C T 5_prime_UTR_variant MELA-AU 6 127588004 127588004 single base substitution C T exon_variant MELA-AU 6 127588004 127588004 single base substitution C T upstream_gene_variant MELA-AU 6 127588423 127588423 single base substitution C T intron_variant MELA-AU 6 127590865 127590865 single base substitution T A intron_variant MELA-AU 6 127591210 127591210 single base substitution C T intron_variant MELA-AU 6 127591737 127591737 single base substitution A G intron_variant MELA-AU 6 127593232 127593232 single base substitution T A intron_variant MELA-AU 6 127593532 127593532 single base substitution A T intron_variant MELA-AU 6 127596339 127596339 single base substitution G A intron_variant MELA-AU 6 127599416 127599416 single base substitution T G intron_variant MELA-AU 6 127599811 127599811 single base substitution A G intron_variant MELA-AU 6 127600455 127600455 single base substitution A G intron_variant MELA-AU 6 127600645 127600645 single base substitution C T intron_variant MELA-AU 6 127601300 127601300 single base substitution C T intron_variant MELA-AU 6 127601357 127601357 single base substitution C T intron_variant MELA-AU 6 127601650 127601650 single base substitution C T exon_variant MELA-AU 6 127601650 127601650 single base substitution C T intron_variant MELA-AU 6 127602633 127602633 single base substitution G A downstream_gene_variant MELA-AU 6 127602633 127602633 single base substitution G A intron_variant MELA-AU 6 127603989 127603989 single base substitution C T downstream_gene_variant MELA-AU 6 127603989 127603989 single base substitution C T intron_variant MELA-AU 6 127604626 127604626 single base substitution C T downstream_gene_variant MELA-AU 6 127604626 127604626 single base substitution C T intron_variant MELA-AU 6 127605491 127605491 single base substitution T C downstream_gene_variant MELA-AU 6 127605491 127605491 single base substitution T C intron_variant MELA-AU 6 127607804 127607804 deletion of <=200bp C - 3_prime_UTR_variant MELA-AU 6 127607804 127607804 deletion of <=200bp C - downstream_gene_variant MELA-AU 6 127607804 127607804 deletion of <=200bp C - exon_variant MELA-AU 6 127607804 127607804 deletion of <=200bp C - frameshift_variant P15 MELA-AU 6 127607804 127607804 deletion of <=200bp C - frameshift_variant P16 MELA-AU 6 127607976 127607976 single base substitution T G 3_prime_UTR_variant MELA-AU 6 127607976 127607976 single base substitution T G downstream_gene_variant MELA-AU 6 127607976 127607976 single base substitution T G exon_variant MELA-AU 6 127607976 127607976 single base substitution T G missense_variant L72R 215T>G MELA-AU 6 127607976 127607976 single base substitution T G missense_variant L73R 218T>G MELA-AU 6 127609042 127609042 single base substitution G A 3_prime_UTR_variant MELA-AU 6 127609042 127609042 single base substitution G A downstream_gene_variant MELA-AU 6 127610454 127610454 single base substitution G A downstream_gene_variant MELA-AU 6 127613474 127613476 deletion of <=200bp ATC - downstream_gene_variant MELA-AU 6 127613652 127613652 single base substitution A G downstream_gene_variant ORCA-IN 6 127608822 127608822 single base substitution C A 3_prime_UTR_variant ORCA-IN 6 127608822 127608822 single base substitution C A downstream_gene_variant ORCA-IN 6 127608822 127608822 single base substitution C A missense_variant T354K 1061C>A ORCA-IN 6 127608822 127608822 single base substitution C A missense_variant T355K 1064C>A OV-AU 6 127583786 127583786 single base substitution A G upstream_gene_variant OV-AU 6 127585625 127585625 single base substitution T C upstream_gene_variant OV-AU 6 127588950 127588950 single base substitution G T intron_variant OV-AU 6 127610322 127610322 single base substitution G A downstream_gene_variant PACA-AU 6 127583402 127583402 single base substitution G A upstream_gene_variant PACA-AU 6 127584280 127584280 single base substitution A G upstream_gene_variant PACA-AU 6 127585080 127585080 single base substitution C T upstream_gene_variant PACA-AU 6 127588995 127588995 single base substitution G A intron_variant PACA-AU 6 127593009 127593009 single base substitution T G intron_variant PACA-AU 6 127596526 127596526 single base substitution C A intron_variant PACA-AU 6 127598977 127598979 deletion of <=200bp CTT - intron_variant PACA-AU 6 127606370 127606370 single base substitution G T 5_prime_UTR_variant PACA-AU 6 127606370 127606370 single base substitution G T downstream_gene_variant PACA-AU 6 127606370 127606370 single base substitution G T exon_variant PACA-AU 6 127606370 127606370 single base substitution G T intron_variant PACA-AU 6 127612349 127612349 insertion of <=200bp - T downstream_gene_variant PACA-CA 6 127585822 127585822 single base substitution T G upstream_gene_variant PACA-CA 6 127587457 127587457 single base substitution A T upstream_gene_variant PACA-CA 6 127589342 127589342 single base substitution G A intron_variant PACA-CA 6 127589348 127589348 deletion of <=200bp C - intron_variant PACA-CA 6 127590383 127590383 single base substitution C T intron_variant PACA-CA 6 127592463 127592463 single base substitution A G intron_variant PACA-CA 6 127595544 127595544 deletion of <=200bp A - intron_variant PACA-CA 6 127597316 127597316 single base substitution T A intron_variant PACA-CA 6 127600319 127600319 single base substitution C G intron_variant PACA-CA 6 127600319 127600319 single base substitution C T intron_variant PACA-CA 6 127601910 127601910 deletion of <=200bp T - downstream_gene_variant PACA-CA 6 127601910 127601910 deletion of <=200bp T - intron_variant PACA-CA 6 127603331 127603331 single base substitution C T downstream_gene_variant PACA-CA 6 127603331 127603331 single base substitution C T intron_variant PACA-CA 6 127604470 127604470 single base substitution T A downstream_gene_variant PACA-CA 6 127604470 127604470 single base substitution T A intron_variant PACA-CA 6 127607084 127607084 insertion of <=200bp - T intron_variant PACA-CA 6 127608731 127608731 single base substitution C T 3_prime_UTR_variant PACA-CA 6 127608731 127608731 single base substitution C T downstream_gene_variant PACA-CA 6 127608731 127608731 single base substitution C T stop_gained R324* 970C>T PACA-CA 6 127608731 127608731 single base substitution C T stop_gained R325* 973C>T PACA-CA 6 127613347 127613347 single base substitution G C downstream_gene_variant PAEN-IT 6 127583089 127583089 single base substitution C T upstream_gene_variant PBCA-DE 6 127592681 127592681 single base substitution T G intron_variant PBCA-DE 6 127605380 127605380 single base substitution T C downstream_gene_variant PBCA-DE 6 127605380 127605380 single base substitution T C intron_variant PRAD-UK 6 127594128 127594128 single base substitution G A intron_variant READ-US 6 127608740 127608740 single base substitution C T 3_prime_UTR_variant READ-US 6 127608740 127608740 single base substitution C T downstream_gene_variant READ-US 6 127608740 127608740 single base substitution C T stop_gained R327* 979C>T READ-US 6 127608740 127608740 single base substitution C T stop_gained R328* 982C>T RECA-EU 6 127582875 127582875 single base substitution T A upstream_gene_variant RECA-EU 6 127597109 127597109 single base substitution A T intron_variant RECA-EU 6 127597110 127597110 single base substitution G T intron_variant RECA-EU 6 127598253 127598253 single base substitution G A intron_variant RECA-EU 6 127598344 127598344 single base substitution A G intron_variant RECA-EU 6 127606437 127606437 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant RECA-EU 6 127606437 127606437 single base substitution A T downstream_gene_variant RECA-EU 6 127606437 127606437 single base substitution A T exon_variant RECA-EU 6 127606437 127606437 single base substitution A T intron_variant RECA-EU 6 127608436 127608436 single base substitution T G 3_prime_UTR_variant RECA-EU 6 127608436 127608436 single base substitution T G downstream_gene_variant RECA-EU 6 127608436 127608436 single base substitution T G missense_variant D225E 675T>G RECA-EU 6 127608436 127608436 single base substitution T G missense_variant D226E 678T>G SKCA-BR 6 127582798 127582798 single base substitution G A upstream_gene_variant SKCA-BR 6 127588323 127588323 single base substitution A C intron_variant SKCA-BR 6 127588668 127588676 deletion of <=200bp GGGCGTACA - intron_variant SKCA-BR 6 127608322 127608322 single base substitution T C 3_prime_UTR_variant SKCA-BR 6 127608322 127608322 single base substitution T C downstream_gene_variant SKCA-BR 6 127608322 127608322 single base substitution T C synonymous_variant N187N 561T>C SKCA-BR 6 127608322 127608322 single base substitution T C synonymous_variant N188N 564T>C SKCA-BR 6 127610292 127610292 single base substitution C T downstream_gene_variant SKCA-BR 6 127611567 127611567 single base substitution T G downstream_gene_variant SKCA-BR 6 127612584 127612584 single base substitution G C downstream_gene_variant SKCM-US 6 127607950 127607950 single base substitution T G 3_prime_UTR_variant SKCM-US 6 127607950 127607950 single base substitution T G downstream_gene_variant SKCM-US 6 127607950 127607950 single base substitution T G exon_variant SKCM-US 6 127607950 127607950 single base substitution T G synonymous_variant A63A 189T>G SKCM-US 6 127607950 127607950 single base substitution T G synonymous_variant A64A 192T>G SKCM-US 6 127608556 127608558 deletion of <=200bp AGA - 3_prime_UTR_variant SKCM-US 6 127608556 127608558 deletion of <=200bp AGA - downstream_gene_variant SKCM-US 6 127608556 127608558 deletion of <=200bp AGA - inframe_deletion GE265G SKCM-US 6 127608556 127608558 deletion of <=200bp AGA - inframe_deletion GE266G SKCM-US 6 127608726 127608726 single base substitution C T 3_prime_UTR_variant SKCM-US 6 127608726 127608726 single base substitution C T downstream_gene_variant SKCM-US 6 127608726 127608726 single base substitution C T missense_variant P322L 965C>T SKCM-US 6 127608726 127608726 single base substitution C T missense_variant P323L 968C>T STAD-US 6 127607921 127607921 single base substitution G A 3_prime_UTR_variant STAD-US 6 127607921 127607921 single base substitution G A downstream_gene_variant STAD-US 6 127607921 127607921 single base substitution G A exon_variant STAD-US 6 127607921 127607921 single base substitution G A missense_variant V54I 160G>A STAD-US 6 127607921 127607921 single base substitution G A missense_variant V55I 163G>A STAD-US 6 127608243 127608243 single base substitution G A 3_prime_UTR_variant STAD-US 6 127608243 127608243 single base substitution G A downstream_gene_variant STAD-US 6 127608243 127608243 single base substitution G A missense_variant R161H 482G>A STAD-US 6 127608243 127608243 single base substitution G A missense_variant R162H 485G>A STAD-US 6 127608346 127608346 single base substitution C T 3_prime_UTR_variant STAD-US 6 127608346 127608346 single base substitution C T downstream_gene_variant STAD-US 6 127608346 127608346 single base substitution C T synonymous_variant S195S 585C>T STAD-US 6 127608346 127608346 single base substitution C T synonymous_variant S196S 588C>T STAD-US 6 127608556 127608558 deletion of <=200bp AGA - 3_prime_UTR_variant STAD-US 6 127608556 127608558 deletion of <=200bp AGA - downstream_gene_variant STAD-US 6 127608556 127608558 deletion of <=200bp AGA - inframe_deletion GE265G STAD-US 6 127608556 127608558 deletion of <=200bp AGA - inframe_deletion GE266G STAD-US 6 127608756 127608756 single base substitution G A 3_prime_UTR_variant STAD-US 6 127608756 127608756 single base substitution G A downstream_gene_variant STAD-US 6 127608756 127608756 single base substitution G A missense_variant R332Q 995G>A STAD-US 6 127608756 127608756 single base substitution G A missense_variant R333Q 998G>A STAD-US 6 127608767 127608767 deletion of <=200bp G - 3_prime_UTR_variant STAD-US 6 127608767 127608767 deletion of <=200bp G - downstream_gene_variant STAD-US 6 127608767 127608767 deletion of <=200bp G - frameshift_variant G336 STAD-US 6 127608767 127608767 deletion of <=200bp G - frameshift_variant G337 THCA-SA 6 127608864 127608864 single base substitution C G 3_prime_UTR_variant THCA-SA 6 127608864 127608864 single base substitution C G downstream_gene_variant UCEC-US 6 127608246 127608246 single base substitution G A 3_prime_UTR_variant UCEC-US 6 127608246 127608246 single base substitution G A downstream_gene_variant UCEC-US 6 127608246 127608246 single base substitution G A missense_variant R162H 485G>A UCEC-US 6 127608246 127608246 single base substitution G A missense_variant R163H 488G>A UCEC-US 6 127608586 127608586 single base substitution C T 3_prime_UTR_variant UCEC-US 6 127608586 127608586 single base substitution C T downstream_gene_variant UCEC-US 6 127608586 127608586 single base substitution C T synonymous_variant G275G 825C>T UCEC-US 6 127608586 127608586 single base substitution C T synonymous_variant G276G 828C>T UCEC-US 6 127608617 127608617 single base substitution G A 3_prime_UTR_variant UCEC-US 6 127608617 127608617 single base substitution G A downstream_gene_variant UCEC-US 6 127608617 127608617 single base substitution G A missense_variant E286K 856G>A UCEC-US 6 127608617 127608617 single base substitution G A missense_variant E287K 859G>A UCEC-US 6 127608668 127608668 single base substitution G A 3_prime_UTR_variant UCEC-US 6 127608668 127608668 single base substitution G A downstream_gene_variant UCEC-US 6 127608668 127608668 single base substitution G A missense_variant A303T 907G>A UCEC-US 6 127608668 127608668 single base substitution G A missense_variant A304T 910G>A UCEC-US 6 127608679 127608679 single base substitution C A 3_prime_UTR_variant UCEC-US 6 127608679 127608679 single base substitution C A downstream_gene_variant UCEC-US 6 127608679 127608679 single base substitution C A synonymous_variant S306S 918C>A UCEC-US 6 127608679 127608679 single base substitution C A synonymous_variant S307S 921C>A UCEC-US 6 127608731 127608731 single base substitution C T 3_prime_UTR_variant UCEC-US 6 127608731 127608731 single base substitution C T downstream_gene_variant UCEC-US 6 127608731 127608731 single base substitution C T stop_gained R324* 970C>T UCEC-US 6 127608731 127608731 single base substitution C T stop_gained R325* 973C>T UCEC-US 6 127608740 127608740 single base substitution C T 3_prime_UTR_variant UCEC-US 6 127608740 127608740 single base substitution C T downstream_gene_variant UCEC-US 6 127608740 127608740 single base substitution C T stop_gained R327* 979C>T UCEC-US 6 127608740 127608740 single base substitution C T stop_gained R328* 982C>T UCEC-US 6 127611308 127611308 single base substitution T G downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 3N39-VS-3T39 COSM4981558 c.565G>A p.V189I Substitution - Missense 6:127287181-127287181 + 43 COSM5734033 c.795_797delAGA p.E267delE Deletion - In frame 6:127287411-127287413 + DLD1 COSM1672730 c.1056G>T p.Q352H Substitution - Missense 6:127287672-127287672 + pfg069T COSM4761145 c.784A>G p.R262G Substitution - Missense 6:127287400-127287400 + TCGA-AP-A0LM-01 COSM1072976 c.979C>T p.R327* Substitution - Nonsense 6:127287595-127287595 + Pat_06_A COSM3858069 c.482G>A p.R161H Substitution - Missense 6:127287098-127287098 + PD11372a COSM5767324 c.631G>C p.V211L Substitution - Missense 6:127287247-127287247 + HCC122 COSM1620861 c.399G>A p.K133K Substitution - coding silent 6:127287015-127287015 + TCGA-AA-A010-01 COSM284617 c.499C>T p.R167* Substitution - Nonsense 6:127287115-127287115 + B COSM3728481 c.1039_1040delAG p.R347fs*3 Deletion - Frameshift 6:127287655-127287656 + PD2214a COSM28423 c.663A>G p.L221L Substitution - coding silent 6:127287279-127287279 + TCGA-BR-8680-01 COSM3858071 c.995G>A p.R332Q Substitution - Missense 6:127287611-127287611 + CN-AML-12-T COSM3171857 c.423C>A p.G141G Substitution - coding silent 6:127287039-127287039 + PCSI_0093_Pa_X COSM1072975 c.970C>T p.R324* Substitution - Nonsense 6:127287586-127287586 + P142 COSM1735977 c.22delG p.D8fs*4 Deletion - Frameshift 6:127286638-127286638 + TCGA-D1-A17Q-01 COSM1072972 c.856G>A p.E286K Substitution - Missense 6:127287472-127287472 + TCGA-EK-A3GK-01 COSM4854011 c.896C>G p.S299C Substitution - Missense 6:127287512-127287512 + TCGA-AP-A051-01 COSM1072969 c.485G>A p.R162H Substitution - Missense 6:127287101-127287101 + BN41 COSM1620862 c.409A>C p.M137L Substitution - Missense 6:127287025-127287025 + TCGA-33-4533-01 COSM739317 c.1010G>A p.G337D Substitution - Missense 6:127287626-127287626 + 185T COSM4383408 c.885T>G p.S295R Substitution - Missense 6:127287501-127287501 + ATL017 COSM5709848 c.507_510delAATA p.I169fs*8 Deletion - Frameshift 6:127287123-127287126 + TCGA-24-1614-01 COSM120064 c.712G>A p.A238T Substitution - Missense 6:127287328-127287328 + TCGA-EE-A29D-06 COSM3620186 c.965C>T p.P322L Substitution - Missense 6:127287581-127287581 + Gp2D COSM4628479 c.237G>A p.E79E Substitution - coding silent 6:127286853-127286853 + TCGA-D1-A103-01 COSM1072971 c.825C>T p.G275G Substitution - coding silent 6:127287441-127287441 + TCGA-D8-A27H-01 COSM1487196 c.414A>C p.L138F Substitution - Missense 6:127287030-127287030 + LU-1991 COSM5615596 c.337T>G p.W113G Substitution - Missense 6:127286953-127286953 + TCGA-B5-A0JV-01 COSM1072974 c.918C>A p.S306S Substitution - coding silent 6:127287534-127287534 + CN-AML-NR-12-Dx COSM3171857 c.423C>A p.G141G Substitution - coding silent 6:127287039-127287039 + HCT15 COSM1672730 c.1056G>T p.Q352H Substitution - Missense 6:127287672-127287672 + BN41T COSM1620862 c.409A>C p.M137L Substitution - Missense 6:127287025-127287025 + ESO-539 COSM1264346 c.643G>A p.V215M Substitution - Missense 6:127287259-127287259 + NB07C COSM1236519 c.709G>A p.D237N Substitution - Missense 6:127287325-127287325 + ESCC_141 COSM5649874 c.976G>C p.D326H Substitution - Missense 6:127287592-127287592 + TCGA-EI-6917-01 COSM1072976 c.979C>T p.R327* Substitution - Nonsense 6:127287595-127287595 + HCC122 COSM1620860 c.367G>A p.E123K Substitution - Missense 6:127286983-127286983 + HCT-15 COSM1672730 c.1056G>T p.Q352H Substitution - Missense 6:127287672-127287672 + TCGA-61-1722-01 COSM1329331 c.587C>T p.S196F Substitution - Missense 6:127287203-127287203 + TCGA-AN-A046-01 COSM3828978 c.205C>T p.R69W Substitution - Missense 6:127286821-127286821 + TCGA-DI-A0WH-01 COSM1072968 c.190T>A p.S64T Substitution - Missense 6:127286806-127286806 + P04-594 COSM247060 c.813A>G p.S271S Substitution - coding silent 6:127287429-127287429 + HCT15 COSM3171865 c.653T>C p.V218A Substitution - Missense 6:127287269-127287269 + ICC013T COSM5814089 c.808G>T p.E270* Substitution - Nonsense 6:127287424-127287424 + SC_9047 COSM5568063 c.945T>C p.S315S Substitution - coding silent 6:127287561-127287561 + TCGA-BR-6452-01 COSM3858070 c.585C>T p.S195S Substitution - coding silent 6:127287201-127287201 + 255 COSM3732398 c.1017_1020delAGTG p.V344fs*11 Deletion - Frameshift 6:127287633-127287636 + STC252 COSM1440276 c.594C>T p.D198D Substitution - coding silent 6:127287210-127287210 + TCGA-AD-6964-01 COSM1440275 c.313T>C p.W105R Substitution - Missense 6:127286929-127286929 + OSCC-GB_00920111 COSM4881825 c.1061C>A p.T354K Substitution - Missense 6:127287677-127287677 + TCGA-EA-A43B-01 COSM4821856 c.796G>C p.E266Q Substitution - Missense 6:127287412-127287412 + pfg181T COSM4761144 c.599C>T p.A200V Substitution - Missense 6:127287215-127287215 + C0069T COSM4155966 c.675T>G p.D225E Substitution - Missense 6:127287291-127287291 + T613 COSM4722003 c.35A>G p.N12S Substitution - Missense 6:127286651-127286651 + TCGA-G3-A3CK-01 COSM4922382 c.497A>C p.K166T Substitution - Missense 6:127287113-127287113 + LOVO COSM3171849 c.59C>T p.A20V Substitution - Missense 6:127286675-127286675 + TCGA-DD-A3A9-01 COSM4920890 c.69C>T p.S23S Substitution - coding silent 6:127286685-127286685 + DLD1 COSM3171865 c.653T>C p.V218A Substitution - Missense 6:127287269-127287269 + TCGA-EE-A184-06 COSM3620185 c.189T>G p.A63A Substitution - coding silent 6:127286805-127286805 + TCGA-AP-A056-01 COSM1072973 c.907G>A p.A303T Substitution - Missense 6:127287523-127287523 + TCGA-CA-6717-01 COSM1440278 c.708T>C p.P236P Substitution - coding silent 6:127287324-127287324 + BD57T COSM5510172 c.101C>A p.P34H Substitution - Missense 6:127286717-127286717 + PTC-7C COSM4160172 c.421G>T p.G141C Substitution - Missense 6:127287037-127287037 + TCGA-ES-A2HT-01 COSM4938521 c.735T>C p.S245S Substitution - coding silent 6:127287351-127287351 + HCC122T COSM1620860 c.367G>A p.E123K Substitution - Missense 6:127286983-127286983 + HCC122T COSM1620861 c.399G>A p.K133K Substitution - coding silent 6:127287015-127287015 + TCGA-BH-A18G-01 COSM3828979 c.637C>T p.P213S Substitution - Missense 6:127287253-127287253 + PDA_083 COSM5002581 c.801A>T p.E267D Substitution - Missense 6:127287417-127287417 + PT52 COSM5939595 c.790G>A p.E264K Substitution - Missense 6:127287406-127287406 + TCGA-BS-A0UV-01 COSM1072975 c.970C>T p.R324* Substitution - Nonsense 6:127287586-127287586 + 46M COSM5588822 c.792A>G p.E264E Substitution - coding silent 6:127287408-127287408 + ESO-859 COSM1240074 c.990T>C p.T330T Substitution - coding silent 6:127287606-127287606 + TCGA-BH-A18G-01 COSM3828980 c.983C>T p.S328L Substitution - Missense 6:127287599-127287599 + TCGA-CD-8525-01 COSM3858069 c.482G>A p.R161H Substitution - Missense 6:127287098-127287098 + TCGA-A5-A0G9-01 COSM1072970 c.680A>G p.Q227R Substitution - Missense 6:127287296-127287296 + TCGA-AZ-4315-01 COSM1440276 c.594C>T p.D198D Substitution - coding silent 6:127287210-127287210 + TCGA-HU-A4G8-01 COSM3858068 c.160G>A p.V54I Substitution - Missense 6:127286776-127286776 + SWE-19 COSM1179040 c.287C>G p.A96G Substitution - Missense 6:127286903-127286903 + TCGA-B5-A0JY-01 COSM1072972 c.856G>A p.E286K Substitution - Missense 6:127287472-127287472 + TCGA-66-2766-01 COSM739318 c.375A>G p.E125E Substitution - coding silent 6:127286991-127286991 + CHC2052T COSM4790058 c.508A>G p.I170V Substitution - Missense 6:127287124-127287124 + CSCC-6-T COSM4450700 c.781delC p.H261fs*47 Deletion - Frameshift 6:127287397-127287397 + CHC2052T COSM4790058 c.508A>G p.I170V Substitution - Missense 6:127287124-127287124 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.267120 6q22.1-q22.33 612137

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L139F c.417A>C 6 127608175 BRCA AGA - InFrameDeletion p.E268delE c.804_806delAGA 6 127608556 CM GA CT Missense p.E93L c.277_278delinsCT 6 127608035 THCA G A Missense p.A239T c.715G>A 6 127608473 OV G A Missense p.D238N c.712G>A 6 127608470 NB G A Missense p.G200E c.599G>A 6 127608357 CM G A Missense p.G338D c.1013G>A 6 127608771 LUSC G A Missense p.R75Q c.224G>A 6 127607982 HNSC G A Missense p.V216M c.646G>A 6 127608404 ESCA T G Missense p.W114G c.340T>G 6 127608098 NSCLC