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 11995166 11995166 single base substitution A G upstream_gene_variant BLCA-CN 8 11995274 11995274 single base substitution G A upstream_gene_variant BLCA-CN 8 11995325 11995325 single base substitution A G upstream_gene_variant BLCA-US 8 11995859 11995859 single base substitution G A upstream_gene_variant BLCA-US 8 11996072 11996072 single base substitution C T upstream_gene_variant BRCA-EU 8 11985840 11985840 single base substitution A T downstream_gene_variant BRCA-EU 8 11986637 11986637 single base substitution G C downstream_gene_variant BRCA-EU 8 11986814 11986814 single base substitution G A downstream_gene_variant BRCA-EU 8 11987236 11987236 insertion of <=200bp - GT downstream_gene_variant BRCA-EU 8 11987628 11987628 single base substitution A G downstream_gene_variant BRCA-EU 8 11987979 11987979 single base substitution C T downstream_gene_variant BRCA-EU 8 11987982 11987982 single base substitution C G downstream_gene_variant BRCA-EU 8 11988349 11988349 single base substitution C A downstream_gene_variant BRCA-EU 8 11988351 11988351 single base substitution G A downstream_gene_variant BRCA-EU 8 11991657 11991657 single base substitution G A exon_variant BRCA-EU 8 11991657 11991657 single base substitution G A upstream_gene_variant BRCA-EU 8 11991697 11991697 single base substitution A G exon_variant BRCA-EU 8 11991697 11991697 single base substitution A G upstream_gene_variant BRCA-EU 8 11992650 11992650 single base substitution A G upstream_gene_variant BRCA-EU 8 11994064 11994064 single base substitution C G upstream_gene_variant BRCA-EU 8 11994579 11994579 insertion of <=200bp - TG upstream_gene_variant BRCA-EU 8 11994579 11994580 deletion of <=200bp TG - upstream_gene_variant BRCA-FR 8 11985477 11985477 single base substitution A G downstream_gene_variant BRCA-FR 8 11988713 11988713 single base substitution T C downstream_gene_variant BRCA-US 8 11995160 11995160 single base substitution G C upstream_gene_variant BRCA-US 8 11996086 11996086 single base substitution G A upstream_gene_variant CESC-US 8 11995421 11995421 single base substitution G C upstream_gene_variant CESC-US 8 11995785 11995785 single base substitution T A upstream_gene_variant CESC-US 8 11995849 11995849 single base substitution G A upstream_gene_variant CESC-US 8 11995989 11995989 insertion of <=200bp - A upstream_gene_variant CESC-US 8 11996239 11996239 single base substitution C G upstream_gene_variant COAD-US 8 11994818 11994818 single base substitution G A upstream_gene_variant COAD-US 8 11994917 11994917 single base substitution G A upstream_gene_variant COAD-US 8 11995248 11995248 single base substitution G A upstream_gene_variant COAD-US 8 11995276 11995276 single base substitution C T upstream_gene_variant COCA-CN 8 11988713 11988713 single base substitution T C downstream_gene_variant COCA-CN 8 11989212 11989212 single base substitution A T downstream_gene_variant COCA-CN 8 11991948 11991948 single base substitution G C exon_variant COCA-CN 8 11991948 11991948 single base substitution G C upstream_gene_variant COCA-CN 8 11992188 11992188 single base substitution C G upstream_gene_variant COCA-CN 8 11996691 11996691 single base substitution G C upstream_gene_variant ESAD-UK 8 11986021 11986021 single base substitution G A downstream_gene_variant ESAD-UK 8 11987273 11987273 single base substitution C T downstream_gene_variant ESAD-UK 8 11988477 11988477 single base substitution G A downstream_gene_variant ESAD-UK 8 11988713 11988713 single base substitution T C downstream_gene_variant ESAD-UK 8 11989024 11989024 single base substitution G A downstream_gene_variant ESAD-UK 8 11989495 11989495 single base substitution A C downstream_gene_variant ESAD-UK 8 11989562 11989562 single base substitution C T downstream_gene_variant ESAD-UK 8 11989700 11989700 single base substitution A C downstream_gene_variant ESAD-UK 8 11989703 11989703 single base substitution T G downstream_gene_variant ESAD-UK 8 11990345 11990345 single base substitution T C exon_variant ESAD-UK 8 11990674 11990674 single base substitution C G exon_variant ESAD-UK 8 11991381 11991381 single base substitution C T exon_variant ESAD-UK 8 11994020 11994020 single base substitution G A upstream_gene_variant ESAD-UK 8 11994041 11994041 single base substitution G A upstream_gene_variant ESAD-UK 8 11994360 11994360 single base substitution T A upstream_gene_variant ESAD-UK 8 11994458 11994458 single base substitution T G upstream_gene_variant ESAD-UK 8 11994658 11994658 single base substitution G T upstream_gene_variant ESAD-UK 8 11994672 11994672 single base substitution T G upstream_gene_variant ESAD-UK 8 11994789 11994789 single base substitution C T upstream_gene_variant ESAD-UK 8 11994832 11994832 single base substitution G T upstream_gene_variant ESCA-CN 8 11994435 11994435 single base substitution C T upstream_gene_variant ESCA-CN 8 11994458 11994458 single base substitution T G upstream_gene_variant GBM-US 8 11995987 11995987 single base substitution G A upstream_gene_variant KIRC-US 8 11995803 11995803 single base substitution C T upstream_gene_variant KIRC-US 8 11995987 11995987 single base substitution G A upstream_gene_variant LAML-KR 8 11991655 11991655 single base substitution G A exon_variant LAML-KR 8 11991655 11991655 single base substitution G A upstream_gene_variant LAML-KR 8 11991962 11991962 single base substitution G T upstream_gene_variant LAML-KR 8 11995433 11995433 single base substitution G T upstream_gene_variant LAML-KR 8 11995439 11995439 single base substitution G A upstream_gene_variant LAML-KR 8 11996034 11996034 single base substitution C T upstream_gene_variant LAML-KR 8 11996715 11996715 single base substitution T G upstream_gene_variant LICA-FR 8 11986879 11986879 single base substitution G C downstream_gene_variant LICA-FR 8 11989628 11989628 single base substitution C G downstream_gene_variant LICA-FR 8 11995161 11995161 single base substitution A T upstream_gene_variant LICA-FR 8 11995723 11995723 single base substitution C G upstream_gene_variant LICA-FR 8 11995733 11995733 single base substitution G C upstream_gene_variant LIHC-US 8 11995368 11995368 single base substitution A G upstream_gene_variant LINC-JP 8 11986480 11986480 single base substitution C A downstream_gene_variant LINC-JP 8 11989494 11989494 single base substitution C A downstream_gene_variant LINC-JP 8 11990315 11990315 single base substitution G T exon_variant LIRI-JP 8 11989657 11989657 single base substitution C G downstream_gene_variant LUSC-KR 8 11985719 11985719 single base substitution A T downstream_gene_variant LUSC-KR 8 11985833 11985833 single base substitution C T downstream_gene_variant LUSC-KR 8 11986299 11986299 single base substitution C T downstream_gene_variant LUSC-KR 8 11986416 11986416 single base substitution G A downstream_gene_variant LUSC-KR 8 11986539 11986539 single base substitution G A downstream_gene_variant LUSC-KR 8 11986664 11986664 single base substitution C T downstream_gene_variant LUSC-KR 8 11986719 11986719 single base substitution G C downstream_gene_variant LUSC-KR 8 11986849 11986849 single base substitution C T downstream_gene_variant LUSC-KR 8 11986862 11986862 single base substitution G A downstream_gene_variant LUSC-KR 8 11987299 11987299 single base substitution T C downstream_gene_variant LUSC-KR 8 11990047 11990047 single base substitution G A exon_variant LUSC-KR 8 11990882 11990882 single base substitution C T exon_variant LUSC-KR 8 11991037 11991037 single base substitution G C exon_variant LUSC-KR 8 11992510 11992510 single base substitution G A upstream_gene_variant LUSC-KR 8 11994957 11994957 single base substitution T C upstream_gene_variant LUSC-KR 8 11995433 11995433 single base substitution G T upstream_gene_variant LUSC-KR 8 11995439 11995439 single base substitution G A upstream_gene_variant LUSC-KR 8 11995475 11995475 single base substitution C G upstream_gene_variant LUSC-KR 8 11995484 11995484 single base substitution C T upstream_gene_variant LUSC-KR 8 11995791 11995791 single base substitution T C upstream_gene_variant LUSC-KR 8 11996261 11996261 single base substitution G A upstream_gene_variant LUSC-US 8 11995031 11995031 single base substitution G C upstream_gene_variant LUSC-US 8 11995293 11995293 single base substitution G A upstream_gene_variant LUSC-US 8 11995788 11995788 single base substitution G T upstream_gene_variant MALY-DE 8 11996690 11996691 deletion of <=200bp TG - upstream_gene_variant MELA-AU 8 11985493 11985493 single base substitution C T downstream_gene_variant MELA-AU 8 11985808 11985808 single base substitution C T downstream_gene_variant MELA-AU 8 11985852 11985852 single base substitution G A downstream_gene_variant MELA-AU 8 11985869 11985869 single base substitution C T downstream_gene_variant MELA-AU 8 11986007 11986007 single base substitution A G downstream_gene_variant MELA-AU 8 11986271 11986271 single base substitution C T downstream_gene_variant MELA-AU 8 11986670 11986670 single base substitution T A downstream_gene_variant MELA-AU 8 11986690 11986690 single base substitution C T downstream_gene_variant MELA-AU 8 11986872 11986872 single base substitution C T downstream_gene_variant MELA-AU 8 11986876 11986876 single base substitution C A downstream_gene_variant MELA-AU 8 11987006 11987006 single base substitution G A downstream_gene_variant MELA-AU 8 11987341 11987341 single base substitution C T downstream_gene_variant MELA-AU 8 11987440 11987440 single base substitution G A downstream_gene_variant MELA-AU 8 11987450 11987451 multiple base substitution (>=2bp and <=200bp) CC TA downstream_gene_variant MELA-AU 8 11987461 11987461 single base substitution C T downstream_gene_variant MELA-AU 8 11987633 11987633 single base substitution G T downstream_gene_variant MELA-AU 8 11987674 11987674 single base substitution C T downstream_gene_variant MELA-AU 8 11987676 11987676 single base substitution G A downstream_gene_variant MELA-AU 8 11987872 11987872 single base substitution T A downstream_gene_variant MELA-AU 8 11987874 11987874 single base substitution C T downstream_gene_variant MELA-AU 8 11988012 11988013 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 11988317 11988317 single base substitution G A downstream_gene_variant MELA-AU 8 11988349 11988349 single base substitution C T downstream_gene_variant MELA-AU 8 11988686 11988686 single base substitution C T downstream_gene_variant MELA-AU 8 11988747 11988747 single base substitution C T downstream_gene_variant MELA-AU 8 11989259 11989259 single base substitution C T downstream_gene_variant MELA-AU 8 11989315 11989315 single base substitution C T downstream_gene_variant MELA-AU 8 11989471 11989471 single base substitution G A downstream_gene_variant MELA-AU 8 11989804 11989804 single base substitution G A downstream_gene_variant MELA-AU 8 11989927 11989927 single base substitution C T downstream_gene_variant MELA-AU 8 11989927 11989927 single base substitution C T exon_variant MELA-AU 8 11989957 11989957 single base substitution T C exon_variant MELA-AU 8 11989990 11989990 single base substitution C T exon_variant MELA-AU 8 11989997 11989997 single base substitution G A exon_variant MELA-AU 8 11990033 11990033 single base substitution C T exon_variant MELA-AU 8 11990078 11990078 single base substitution C T exon_variant MELA-AU 8 11990181 11990181 single base substitution C T exon_variant MELA-AU 8 11990208 11990208 single base substitution C T exon_variant MELA-AU 8 11990228 11990228 single base substitution C T exon_variant MELA-AU 8 11990229 11990229 single base substitution C T exon_variant MELA-AU 8 11990264 11990264 single base substitution C T exon_variant MELA-AU 8 11990270 11990270 single base substitution C T exon_variant MELA-AU 8 11991065 11991065 single base substitution C T exon_variant MELA-AU 8 11991377 11991378 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 8 11991515 11991515 single base substitution C T exon_variant MELA-AU 8 11991878 11991878 single base substitution T G exon_variant MELA-AU 8 11991878 11991878 single base substitution T G upstream_gene_variant MELA-AU 8 11992882 11992882 single base substitution G A upstream_gene_variant MELA-AU 8 11992995 11992995 single base substitution C T upstream_gene_variant MELA-AU 8 11993147 11993147 single base substitution G A upstream_gene_variant MELA-AU 8 11993231 11993231 single base substitution C T upstream_gene_variant MELA-AU 8 11993381 11993381 single base substitution C T upstream_gene_variant MELA-AU 8 11993422 11993422 single base substitution G C upstream_gene_variant MELA-AU 8 11993759 11993759 single base substitution C T upstream_gene_variant MELA-AU 8 11994064 11994064 single base substitution C T upstream_gene_variant MELA-AU 8 11994087 11994087 single base substitution C T upstream_gene_variant MELA-AU 8 11994169 11994169 single base substitution G C upstream_gene_variant MELA-AU 8 11994257 11994257 single base substitution C T upstream_gene_variant MELA-AU 8 11994324 11994324 single base substitution C T upstream_gene_variant MELA-AU 8 11994467 11994467 single base substitution C T upstream_gene_variant MELA-AU 8 11994741 11994741 single base substitution C T upstream_gene_variant MELA-AU 8 11994979 11994979 single base substitution C T upstream_gene_variant MELA-AU 8 11995417 11995417 single base substitution C T upstream_gene_variant MELA-AU 8 11996013 11996013 single base substitution C T upstream_gene_variant MELA-AU 8 11996110 11996110 single base substitution C T upstream_gene_variant MELA-AU 8 11996422 11996422 single base substitution C T upstream_gene_variant MELA-AU 8 11996717 11996717 single base substitution G T upstream_gene_variant ORCA-IN 8 11989588 11989588 single base substitution G A downstream_gene_variant OV-AU 8 11990838 11990838 single base substitution G T exon_variant OV-AU 8 11991035 11991035 single base substitution G A exon_variant OV-AU 8 11991968 11991968 single base substitution G T upstream_gene_variant OV-AU 8 11994599 11994599 single base substitution C T upstream_gene_variant PACA-AU 8 11985364 11985364 single base substitution A G downstream_gene_variant PACA-AU 8 11985894 11985894 single base substitution C A downstream_gene_variant PACA-AU 8 11987721 11987721 single base substitution T A downstream_gene_variant PACA-AU 8 11988588 11988588 single base substitution A T downstream_gene_variant PACA-AU 8 11989853 11989853 single base substitution G A downstream_gene_variant PACA-AU 8 11991172 11991172 single base substitution G A exon_variant PACA-AU 8 11994075 11994075 single base substitution G A upstream_gene_variant PACA-AU 8 11994355 11994355 single base substitution G A upstream_gene_variant PACA-CA 8 11988695 11988695 single base substitution G A downstream_gene_variant PACA-CA 8 11992764 11992764 single base substitution C T upstream_gene_variant PACA-CA 8 11996683 11996683 insertion of <=200bp - TCTC upstream_gene_variant PAEN-AU 8 11992795 11992795 single base substitution G A upstream_gene_variant PAEN-AU 8 11996713 11996713 single base substitution G T upstream_gene_variant PBCA-DE 8 11987236 11987237 deletion of <=200bp GT - downstream_gene_variant PBCA-DE 8 11988355 11988355 single base substitution C T downstream_gene_variant PRAD-CA 8 11986862 11986862 single base substitution G A downstream_gene_variant PRAD-CA 8 11989146 11989146 single base substitution G T downstream_gene_variant PRAD-CA 8 11990314 11990314 single base substitution G C exon_variant PRAD-CA 8 11994111 11994111 single base substitution C T upstream_gene_variant PRAD-CA 8 11995041 11995041 single base substitution C A upstream_gene_variant PRAD-CA 8 11996715 11996715 single base substitution T G upstream_gene_variant PRAD-UK 8 11986333 11986333 single base substitution T A downstream_gene_variant PRAD-UK 8 11986664 11986664 single base substitution C T downstream_gene_variant PRAD-UK 8 11990166 11990166 single base substitution G A exon_variant PRAD-US 8 11986016 11986016 single base substitution C A downstream_gene_variant PRAD-US 8 11990647 11990647 insertion of <=200bp - GTTTGTT exon_variant PRAD-US 8 11994626 11994627 deletion of <=200bp GT - upstream_gene_variant READ-US 8 11994798 11994798 single base substitution G A upstream_gene_variant RECA-EU 8 11989736 11989736 single base substitution C T downstream_gene_variant RECA-EU 8 11996788 11996788 single base substitution T C upstream_gene_variant SKCA-BR 8 11986545 11986545 single base substitution T G downstream_gene_variant SKCA-BR 8 11986612 11986612 single base substitution C T downstream_gene_variant SKCA-BR 8 11986807 11986807 single base substitution G A downstream_gene_variant SKCA-BR 8 11986881 11986881 single base substitution G A downstream_gene_variant SKCA-BR 8 11987495 11987495 single base substitution A G downstream_gene_variant SKCA-BR 8 11988708 11988708 single base substitution C T downstream_gene_variant SKCA-BR 8 11988820 11988820 single base substitution C T downstream_gene_variant SKCA-BR 8 11990181 11990181 single base substitution C T exon_variant SKCA-BR 8 11990202 11990202 single base substitution G A exon_variant SKCA-BR 8 11991374 11991374 single base substitution A C exon_variant SKCA-BR 8 11991461 11991461 insertion of <=200bp - GT exon_variant SKCA-BR 8 11991934 11991944 deletion of <=200bp CTGTGTGTGTG - exon_variant SKCA-BR 8 11991934 11991944 deletion of <=200bp CTGTGTGTGTG - upstream_gene_variant SKCA-BR 8 11991968 11991980 deletion of <=200bp GTGTGTGTGTGTT - upstream_gene_variant SKCA-BR 8 11993140 11993140 single base substitution G C upstream_gene_variant SKCA-BR 8 11993196 11993199 deletion of <=200bp GGAT - upstream_gene_variant SKCA-BR 8 11993204 11993204 single base substitution G T upstream_gene_variant SKCA-BR 8 11993348 11993348 single base substitution G A upstream_gene_variant SKCA-BR 8 11993433 11993433 single base substitution G A upstream_gene_variant SKCA-BR 8 11993450 11993450 single base substitution G A upstream_gene_variant SKCA-BR 8 11993463 11993463 single base substitution C T upstream_gene_variant SKCA-BR 8 11993572 11993572 insertion of <=200bp - GTT upstream_gene_variant SKCA-BR 8 11994435 11994435 single base substitution C T upstream_gene_variant SKCA-BR 8 11994669 11994669 single base substitution C T upstream_gene_variant SKCA-BR 8 11994904 11994904 single base substitution C T upstream_gene_variant SKCA-BR 8 11995407 11995407 single base substitution C T upstream_gene_variant SKCA-BR 8 11995433 11995433 single base substitution G T upstream_gene_variant SKCA-BR 8 11995439 11995439 single base substitution G A upstream_gene_variant SKCA-BR 8 11995484 11995484 single base substitution C T upstream_gene_variant SKCA-BR 8 11995601 11995601 single base substitution G A upstream_gene_variant SKCA-BR 8 11995785 11995785 single base substitution T A upstream_gene_variant SKCA-BR 8 11996683 11996683 insertion of <=200bp - ATC upstream_gene_variant SKCM-US 8 11994678 11994678 single base substitution C T upstream_gene_variant SKCM-US 8 11994698 11994698 single base substitution C T upstream_gene_variant SKCM-US 8 11994738 11994738 single base substitution C T upstream_gene_variant SKCM-US 8 11994741 11994741 single base substitution C T upstream_gene_variant SKCM-US 8 11994778 11994778 single base substitution C T upstream_gene_variant SKCM-US 8 11994844 11994844 single base substitution T C upstream_gene_variant SKCM-US 8 11994845 11994845 single base substitution C T upstream_gene_variant SKCM-US 8 11994871 11994871 single base substitution G A upstream_gene_variant SKCM-US 8 11994895 11994895 single base substitution G A upstream_gene_variant SKCM-US 8 11994955 11994955 single base substitution A G upstream_gene_variant SKCM-US 8 11994959 11994959 single base substitution C T upstream_gene_variant SKCM-US 8 11994994 11994994 single base substitution C T upstream_gene_variant SKCM-US 8 11995065 11995065 single base substitution C G upstream_gene_variant SKCM-US 8 11995072 11995072 single base substitution C T upstream_gene_variant SKCM-US 8 11995102 11995102 single base substitution C T upstream_gene_variant SKCM-US 8 11995136 11995136 single base substitution C T upstream_gene_variant SKCM-US 8 11995223 11995223 single base substitution C T upstream_gene_variant SKCM-US 8 11995285 11995285 single base substitution T A upstream_gene_variant SKCM-US 8 11995287 11995287 single base substitution C T upstream_gene_variant SKCM-US 8 11995291 11995291 single base substitution C T upstream_gene_variant SKCM-US 8 11995377 11995377 single base substitution G A upstream_gene_variant SKCM-US 8 11995636 11995636 single base substitution C T upstream_gene_variant SKCM-US 8 11995798 11995798 single base substitution G A upstream_gene_variant SKCM-US 8 11996013 11996013 single base substitution C T upstream_gene_variant SKCM-US 8 11996035 11996035 single base substitution C T upstream_gene_variant SKCM-US 8 11996046 11996046 single base substitution G A upstream_gene_variant SKCM-US 8 11996051 11996051 single base substitution C T upstream_gene_variant SKCM-US 8 11996079 11996079 single base substitution G A upstream_gene_variant STAD-US 8 11994773 11994773 single base substitution G A upstream_gene_variant STAD-US 8 11994792 11994792 single base substitution G T upstream_gene_variant STAD-US 8 11994797 11994797 single base substitution C T upstream_gene_variant STAD-US 8 11995092 11995092 single base substitution G A upstream_gene_variant STAD-US 8 11995172 11995172 single base substitution C A upstream_gene_variant STAD-US 8 11995417 11995417 single base substitution C A upstream_gene_variant STAD-US 8 11995964 11995964 single base substitution C T upstream_gene_variant STAD-US 8 11996191 11996191 single base substitution C T upstream_gene_variant THCA-SA 8 11985719 11985719 single base substitution A T downstream_gene_variant THCA-SA 8 11985833 11985833 single base substitution C T downstream_gene_variant THCA-SA 8 11994957 11994957 single base substitution T C upstream_gene_variant THCA-SA 8 11995484 11995484 single base substitution C T upstream_gene_variant THCA-SA 8 11995823 11995823 single base substitution C T upstream_gene_variant UCEC-US 8 11989954 11989954 single base substitution C A exon_variant UCEC-US 8 11990137 11990137 single base substitution G A exon_variant UCEC-US 8 11990295 11990295 single base substitution G C exon_variant UCEC-US 8 11990849 11990849 single base substitution C T exon_variant UCEC-US 8 11990851 11990851 single base substitution A T exon_variant UCEC-US 8 11991178 11991178 single base substitution G A exon_variant UCEC-US 8 11995199 11995199 single base substitution A G upstream_gene_variant UCEC-US 8 11995979 11995979 single base substitution G T upstream_gene_variant

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.741132 8p23.1