Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 8 7190531 7190531 single base substitution T A upstream_gene_variant BLCA-CN 8 7191030 7191030 single base substitution G C upstream_gene_variant BLCA-CN 8 7196084 7196084 single base substitution A G exon_variant BRCA-EU 8 7189736 7189736 single base substitution T G upstream_gene_variant BRCA-EU 8 7189772 7189772 single base substitution C T upstream_gene_variant BRCA-EU 8 7190448 7190448 single base substitution C A upstream_gene_variant BRCA-EU 8 7192114 7192114 single base substitution C T upstream_gene_variant BRCA-EU 8 7192143 7192143 single base substitution C T upstream_gene_variant BRCA-EU 8 7193761 7193761 single base substitution T A upstream_gene_variant BRCA-EU 8 7197930 7197930 single base substitution A T downstream_gene_variant BRCA-EU 8 7198376 7198376 single base substitution A G downstream_gene_variant BRCA-EU 8 7198419 7198419 single base substitution A G downstream_gene_variant BRCA-FR 8 7189736 7189736 single base substitution T G upstream_gene_variant BRCA-FR 8 7190904 7190904 single base substitution C T upstream_gene_variant BRCA-FR 8 7192143 7192143 single base substitution C T upstream_gene_variant BRCA-UK 8 7196551 7196551 single base substitution G A downstream_gene_variant COAD-US 8 7190987 7190987 single base substitution T C upstream_gene_variant COCA-CN 8 7193556 7193556 single base substitution G A upstream_gene_variant COCA-CN 8 7193563 7193563 single base substitution T C upstream_gene_variant COCA-CN 8 7193596 7193596 single base substitution G T upstream_gene_variant COCA-CN 8 7193826 7193826 single base substitution G A upstream_gene_variant COCA-CN 8 7199738 7199738 single base substitution C T downstream_gene_variant ESAD-UK 8 7191583 7191584 deletion of <=200bp AC - upstream_gene_variant ESCA-CN 8 7194640 7194640 single base substitution G C exon_variant ESCA-CN 8 7195862 7195862 single base substitution A T exon_variant ESCA-CN 8 7196263 7196264 deletion of <=200bp AC - downstream_gene_variant LAML-KR 8 7189673 7189673 single base substitution C T upstream_gene_variant LAML-KR 8 7190157 7190157 single base substitution G C upstream_gene_variant LAML-KR 8 7191516 7191516 single base substitution C T upstream_gene_variant LAML-KR 8 7191766 7191766 single base substitution C T upstream_gene_variant LAML-KR 8 7192578 7192578 single base substitution G A upstream_gene_variant LAML-KR 8 7194219 7194219 single base substitution G C upstream_gene_variant LAML-KR 8 7194277 7194277 single base substitution A G upstream_gene_variant LAML-KR 8 7194499 7194499 single base substitution C G upstream_gene_variant LAML-KR 8 7197802 7197802 single base substitution C T downstream_gene_variant LAML-KR 8 7198953 7198953 single base substitution A G downstream_gene_variant LAML-KR 8 7198988 7198988 single base substitution A G downstream_gene_variant LICA-FR 8 7190757 7190757 single base substitution C T upstream_gene_variant LICA-FR 8 7199852 7199852 single base substitution T A downstream_gene_variant LIHC-US 8 7190945 7190945 single base substitution G C upstream_gene_variant LIRI-JP 8 7191869 7191869 single base substitution G T upstream_gene_variant LIRI-JP 8 7193818 7193818 single base substitution C T upstream_gene_variant LUSC-KR 8 7190129 7190129 single base substitution G C upstream_gene_variant LUSC-KR 8 7190157 7190157 single base substitution G C upstream_gene_variant LUSC-KR 8 7190213 7190213 single base substitution T C upstream_gene_variant LUSC-KR 8 7190739 7190739 single base substitution C T upstream_gene_variant LUSC-KR 8 7190745 7190745 single base substitution C A upstream_gene_variant LUSC-KR 8 7190818 7190818 single base substitution C G upstream_gene_variant LUSC-KR 8 7191503 7191503 single base substitution C T upstream_gene_variant LUSC-KR 8 7191516 7191516 single base substitution C T upstream_gene_variant LUSC-KR 8 7191766 7191766 single base substitution C T upstream_gene_variant LUSC-KR 8 7191803 7191803 single base substitution C G upstream_gene_variant LUSC-KR 8 7194499 7194499 single base substitution C G upstream_gene_variant LUSC-KR 8 7194857 7194857 single base substitution G C exon_variant LUSC-KR 8 7194885 7194885 single base substitution G C exon_variant LUSC-KR 8 7194941 7194941 single base substitution T C exon_variant LUSC-KR 8 7195467 7195467 single base substitution C T exon_variant LUSC-KR 8 7195473 7195473 single base substitution C A exon_variant LUSC-KR 8 7195495 7195495 single base substitution G A exon_variant LUSC-KR 8 7195924 7195924 single base substitution G C exon_variant LUSC-KR 8 7196369 7196369 single base substitution C T downstream_gene_variant LUSC-KR 8 7196372 7196372 single base substitution C A downstream_gene_variant LUSC-KR 8 7197921 7197921 single base substitution C A downstream_gene_variant LUSC-KR 8 7197922 7197922 single base substitution C T downstream_gene_variant LUSC-KR 8 7199223 7199223 single base substitution A G downstream_gene_variant LUSC-KR 8 7199353 7199353 single base substitution G C downstream_gene_variant LUSC-KR 8 7199418 7199418 single base substitution G A downstream_gene_variant LUSC-KR 8 7199490 7199490 single base substitution G A downstream_gene_variant LUSC-KR 8 7199652 7199652 single base substitution T C downstream_gene_variant LUSC-KR 8 7199738 7199738 single base substitution C T downstream_gene_variant LUSC-KR 8 7200138 7200138 single base substitution G A downstream_gene_variant LUSC-KR 8 7200318 7200318 single base substitution A G downstream_gene_variant MALY-DE 8 7191540 7191541 deletion of <=200bp CA - upstream_gene_variant MALY-DE 8 7196263 7196264 deletion of <=200bp AC - downstream_gene_variant MELA-AU 8 7190395 7190395 single base substitution G A upstream_gene_variant MELA-AU 8 7190440 7190440 single base substitution C T upstream_gene_variant MELA-AU 8 7190956 7190956 single base substitution G A upstream_gene_variant MELA-AU 8 7190970 7190970 single base substitution C T upstream_gene_variant MELA-AU 8 7191274 7191274 single base substitution G A upstream_gene_variant MELA-AU 8 7191686 7191686 single base substitution G A upstream_gene_variant MELA-AU 8 7191736 7191736 single base substitution G A upstream_gene_variant MELA-AU 8 7191795 7191795 single base substitution G A upstream_gene_variant MELA-AU 8 7191897 7191897 single base substitution C T upstream_gene_variant MELA-AU 8 7191901 7191901 single base substitution C T upstream_gene_variant MELA-AU 8 7192182 7192182 single base substitution C T upstream_gene_variant MELA-AU 8 7192204 7192204 single base substitution G A upstream_gene_variant MELA-AU 8 7193483 7193483 single base substitution C T upstream_gene_variant MELA-AU 8 7193863 7193863 single base substitution C T upstream_gene_variant MELA-AU 8 7194255 7194255 single base substitution C T upstream_gene_variant MELA-AU 8 7194470 7194470 single base substitution C T upstream_gene_variant MELA-AU 8 7194483 7194483 single base substitution G A upstream_gene_variant MELA-AU 8 7194487 7194487 single base substitution G A upstream_gene_variant MELA-AU 8 7195663 7195663 single base substitution G A exon_variant MELA-AU 8 7196246 7196246 single base substitution G A downstream_gene_variant MELA-AU 8 7196335 7196335 single base substitution G A downstream_gene_variant MELA-AU 8 7197467 7197467 single base substitution G A downstream_gene_variant MELA-AU 8 7197553 7197553 single base substitution C T downstream_gene_variant MELA-AU 8 7197922 7197922 single base substitution C T downstream_gene_variant MELA-AU 8 7198213 7198213 single base substitution C T downstream_gene_variant MELA-AU 8 7198948 7198948 single base substitution C T downstream_gene_variant MELA-AU 8 7199126 7199126 single base substitution G A downstream_gene_variant MELA-AU 8 7199174 7199174 single base substitution G A downstream_gene_variant MELA-AU 8 7199266 7199266 single base substitution G A downstream_gene_variant MELA-AU 8 7199594 7199594 single base substitution C T downstream_gene_variant MELA-AU 8 7199702 7199702 single base substitution C T downstream_gene_variant MELA-AU 8 7199881 7199881 single base substitution C T downstream_gene_variant OV-AU 8 7194188 7194188 single base substitution A G upstream_gene_variant OV-AU 8 7197509 7197509 single base substitution G C downstream_gene_variant PACA-AU 8 7190965 7190965 single base substitution G A upstream_gene_variant PACA-AU 8 7191516 7191516 single base substitution C T upstream_gene_variant PACA-AU 8 7192145 7192145 single base substitution C T upstream_gene_variant PACA-CA 8 7194472 7194472 single base substitution C T upstream_gene_variant PACA-CA 8 7196300 7196300 single base substitution C T downstream_gene_variant PBCA-DE 8 7191540 7191541 deletion of <=200bp CA - upstream_gene_variant PBCA-DE 8 7194185 7194186 deletion of <=200bp CA - upstream_gene_variant PRAD-UK 8 7192139 7192139 deletion of <=200bp G - upstream_gene_variant PRAD-UK 8 7192221 7192221 single base substitution A G upstream_gene_variant PRAD-UK 8 7194439 7194442 deletion of <=200bp TTAA - upstream_gene_variant PRAD-US 8 7190821 7190825 deletion of <=200bp CCATA - upstream_gene_variant PRAD-US 8 7191540 7191541 deletion of <=200bp CA - upstream_gene_variant PRAD-US 8 7191583 7191584 deletion of <=200bp AC - upstream_gene_variant PRAD-US 8 7196263 7196264 deletion of <=200bp AC - downstream_gene_variant READ-US 8 7190965 7190965 single base substitution G A upstream_gene_variant READ-US 8 7191006 7191006 single base substitution G T upstream_gene_variant RECA-EU 8 7191947 7191947 single base substitution C T upstream_gene_variant SKCA-BR 8 7190543 7190543 single base substitution G A upstream_gene_variant SKCA-BR 8 7190682 7190682 single base substitution C T upstream_gene_variant SKCA-BR 8 7191092 7191092 single base substitution G A upstream_gene_variant SKCA-BR 8 7191124 7191124 single base substitution G A upstream_gene_variant SKCA-BR 8 7191873 7191873 single base substitution C T upstream_gene_variant SKCA-BR 8 7191929 7191929 single base substitution G A upstream_gene_variant SKCA-BR 8 7191954 7191954 single base substitution G A upstream_gene_variant SKCA-BR 8 7192294 7192294 single base substitution T C upstream_gene_variant SKCA-BR 8 7192363 7192363 single base substitution C T upstream_gene_variant SKCA-BR 8 7192483 7192483 single base substitution C T upstream_gene_variant SKCA-BR 8 7194174 7194174 single base substitution C A upstream_gene_variant SKCA-BR 8 7194184 7194186 deletion of <=200bp GCA - upstream_gene_variant SKCA-BR 8 7194498 7194498 single base substitution C T upstream_gene_variant SKCA-BR 8 7196246 7196246 single base substitution G A downstream_gene_variant SKCA-BR 8 7196651 7196651 single base substitution G A downstream_gene_variant SKCA-BR 8 7198651 7198651 single base substitution C T downstream_gene_variant SKCA-BR 8 7198653 7198653 single base substitution C T downstream_gene_variant SKCA-BR 8 7199311 7199311 single base substitution C T downstream_gene_variant UCEC-US 8 7190680 7190680 single base substitution C A upstream_gene_variant UCEC-US 8 7190721 7190721 single base substitution T G upstream_gene_variant UCEC-US 8 7190831 7190831 single base substitution C T upstream_gene_variant UCEC-US 8 7190976 7190976 single base substitution C T upstream_gene_variant UCEC-US 8 7191381 7191381 single base substitution G A upstream_gene_variant

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.741134 8p23.1