Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 4 9237584 9237584 single base substitution A T missense_variant T492S 1474A>T BRCA-EU 4 9238139 9238139 single base substitution G T downstream_gene_variant BRCA-EU 4 9239923 9239923 single base substitution T C downstream_gene_variant BRCA-EU 4 9239950 9239950 single base substitution C A downstream_gene_variant BRCA-EU 4 9240022 9240022 single base substitution C T downstream_gene_variant BRCA-EU 4 9240352 9240352 single base substitution A T downstream_gene_variant BRCA-EU 4 9240634 9240634 single base substitution G T downstream_gene_variant BRCA-EU 4 9240635 9240635 single base substitution G T downstream_gene_variant BRCA-FR 4 9240022 9240022 single base substitution C T downstream_gene_variant BRCA-FR 4 9240603 9240603 single base substitution G A downstream_gene_variant BRCA-FR 4 9240857 9240857 single base substitution T G downstream_gene_variant KIRC-US 4 9241928 9241928 single base substitution G C downstream_gene_variant LAML-KR 4 9231338 9231338 single base substitution C A upstream_gene_variant LAML-KR 4 9231810 9231810 single base substitution A T upstream_gene_variant LAML-KR 4 9232439 9232439 single base substitution G C upstream_gene_variant LAML-KR 4 9233122 9233122 single base substitution G A upstream_gene_variant LAML-KR 4 9233128 9233128 single base substitution A G upstream_gene_variant LAML-KR 4 9233917 9233917 single base substitution T G upstream_gene_variant LAML-KR 4 9234135 9234135 single base substitution G A upstream_gene_variant LAML-KR 4 9235314 9235314 single base substitution T C upstream_gene_variant LAML-KR 4 9235494 9235494 single base substitution C T upstream_gene_variant LAML-KR 4 9235555 9235555 single base substitution G C upstream_gene_variant LAML-KR 4 9235557 9235557 single base substitution G A upstream_gene_variant LAML-KR 4 9235625 9235625 single base substitution G A upstream_gene_variant LAML-KR 4 9235656 9235656 single base substitution A G upstream_gene_variant LAML-KR 4 9235685 9235685 single base substitution C A upstream_gene_variant LAML-KR 4 9235721 9235721 single base substitution G A upstream_gene_variant LAML-KR 4 9235760 9235760 single base substitution C T upstream_gene_variant LAML-KR 4 9235770 9235770 single base substitution A G upstream_gene_variant LAML-KR 4 9235832 9235832 single base substitution C G upstream_gene_variant LAML-KR 4 9235993 9235993 single base substitution A T upstream_gene_variant LAML-KR 4 9236098 9236098 single base substitution C T upstream_gene_variant LAML-KR 4 9237782 9237782 single base substitution G C downstream_gene_variant LAML-KR 4 9237811 9237811 single base substitution C A downstream_gene_variant LAML-KR 4 9237827 9237827 single base substitution T C downstream_gene_variant LAML-KR 4 9239122 9239122 single base substitution G C downstream_gene_variant LAML-KR 4 9239146 9239146 single base substitution A G downstream_gene_variant LAML-KR 4 9239828 9239828 single base substitution C A downstream_gene_variant LAML-KR 4 9240202 9240202 single base substitution A C downstream_gene_variant LAML-KR 4 9240213 9240213 single base substitution G A downstream_gene_variant LAML-KR 4 9240221 9240221 single base substitution G T downstream_gene_variant LAML-KR 4 9240398 9240398 single base substitution A G downstream_gene_variant LAML-KR 4 9240410 9240410 single base substitution C A downstream_gene_variant LAML-KR 4 9240577 9240577 single base substitution C G downstream_gene_variant LAML-KR 4 9240604 9240604 single base substitution C A downstream_gene_variant LAML-KR 4 9240631 9240631 single base substitution C A downstream_gene_variant LAML-KR 4 9240649 9240649 single base substitution A C downstream_gene_variant LAML-KR 4 9240827 9240827 single base substitution C A downstream_gene_variant LAML-KR 4 9240876 9240876 single base substitution C G downstream_gene_variant LAML-KR 4 9240922 9240922 single base substitution T C downstream_gene_variant LAML-KR 4 9240930 9240930 single base substitution A C downstream_gene_variant LAML-KR 4 9241243 9241243 single base substitution G A downstream_gene_variant LAML-KR 4 9241299 9241299 single base substitution A T downstream_gene_variant LAML-KR 4 9241338 9241338 single base substitution C T downstream_gene_variant LAML-KR 4 9242089 9242089 single base substitution C G downstream_gene_variant LAML-KR 4 9242089 9242089 single base substitution C T downstream_gene_variant LAML-KR 4 9242109 9242109 single base substitution C A downstream_gene_variant LAML-KR 4 9242113 9242113 single base substitution T G downstream_gene_variant LAML-KR 4 9242334 9242334 single base substitution C A downstream_gene_variant LAML-KR 4 9242539 9242539 single base substitution C T downstream_gene_variant LICA-FR 4 9239902 9239902 single base substitution G A downstream_gene_variant LICA-FR 4 9240194 9240194 single base substitution A T downstream_gene_variant LICA-FR 4 9240594 9240594 single base substitution A T downstream_gene_variant LICA-FR 4 9240604 9240604 single base substitution C A downstream_gene_variant LICA-FR 4 9240643 9240643 single base substitution C A downstream_gene_variant LUSC-KR 4 9231312 9231312 single base substitution T C upstream_gene_variant LUSC-KR 4 9231375 9231375 single base substitution G C upstream_gene_variant LUSC-KR 4 9232086 9232086 single base substitution G T upstream_gene_variant LUSC-KR 4 9233050 9233050 single base substitution C T upstream_gene_variant LUSC-KR 4 9233215 9233215 single base substitution G A upstream_gene_variant LUSC-KR 4 9235494 9235494 single base substitution C T upstream_gene_variant LUSC-KR 4 9235557 9235557 single base substitution G A upstream_gene_variant LUSC-KR 4 9235616 9235616 single base substitution C A upstream_gene_variant LUSC-KR 4 9235760 9235760 single base substitution C T upstream_gene_variant LUSC-KR 4 9235832 9235832 single base substitution C G upstream_gene_variant LUSC-KR 4 9235832 9235832 single base substitution C T upstream_gene_variant LUSC-KR 4 9235859 9235859 single base substitution C A upstream_gene_variant LUSC-KR 4 9235980 9235980 single base substitution G T upstream_gene_variant LUSC-KR 4 9235993 9235993 single base substitution A T upstream_gene_variant LUSC-KR 4 9236177 9236177 single base substitution T C missense_variant S23P 67T>C LUSC-KR 4 9236554 9236554 single base substitution A T synonymous_variant A148A 444A>T LUSC-KR 4 9237827 9237827 single base substitution T C downstream_gene_variant LUSC-KR 4 9237941 9237941 single base substitution G T downstream_gene_variant LUSC-KR 4 9238000 9238000 single base substitution T C downstream_gene_variant LUSC-KR 4 9239828 9239828 single base substitution C A downstream_gene_variant LUSC-KR 4 9239930 9239930 single base substitution C A downstream_gene_variant LUSC-KR 4 9240370 9240370 single base substitution G T downstream_gene_variant LUSC-KR 4 9240398 9240398 single base substitution A G downstream_gene_variant LUSC-KR 4 9240400 9240400 single base substitution G A downstream_gene_variant LUSC-KR 4 9240402 9240402 single base substitution C G downstream_gene_variant LUSC-KR 4 9240484 9240484 single base substitution G A downstream_gene_variant LUSC-KR 4 9240604 9240604 single base substitution C A downstream_gene_variant LUSC-KR 4 9240649 9240649 single base substitution A C downstream_gene_variant LUSC-KR 4 9240827 9240827 single base substitution C A downstream_gene_variant LUSC-KR 4 9240882 9240882 single base substitution A T downstream_gene_variant LUSC-KR 4 9241014 9241014 single base substitution T C downstream_gene_variant LUSC-KR 4 9241668 9241668 single base substitution C T downstream_gene_variant LUSC-KR 4 9241824 9241824 single base substitution G T downstream_gene_variant LUSC-KR 4 9242089 9242089 single base substitution C T downstream_gene_variant LUSC-KR 4 9242091 9242091 single base substitution C T downstream_gene_variant LUSC-KR 4 9242109 9242109 single base substitution C A downstream_gene_variant LUSC-KR 4 9242113 9242113 single base substitution T G downstream_gene_variant LUSC-KR 4 9242213 9242213 single base substitution G A downstream_gene_variant LUSC-KR 4 9242539 9242539 single base substitution C T downstream_gene_variant LUSC-KR 4 9242574 9242574 single base substitution T C downstream_gene_variant LUSC-KR 4 9242655 9242655 single base substitution G C downstream_gene_variant MELA-AU 4 9240430 9240430 single base substitution C A downstream_gene_variant MELA-AU 4 9240761 9240761 single base substitution G A downstream_gene_variant MELA-AU 4 9241350 9241350 single base substitution C T downstream_gene_variant MELA-AU 4 9241812 9241812 single base substitution C T downstream_gene_variant OV-AU 4 9240290 9240290 single base substitution G T downstream_gene_variant OV-AU 4 9240352 9240352 single base substitution A T downstream_gene_variant PRAD-UK 4 9240634 9240634 single base substitution G T downstream_gene_variant SKCA-BR 4 9232168 9232168 single base substitution A G upstream_gene_variant SKCA-BR 4 9233258 9233258 single base substitution T C upstream_gene_variant SKCA-BR 4 9235379 9235379 single base substitution A G upstream_gene_variant SKCA-BR 4 9235555 9235555 single base substitution G C upstream_gene_variant SKCA-BR 4 9235685 9235685 single base substitution C A upstream_gene_variant SKCA-BR 4 9240166 9240166 single base substitution G T downstream_gene_variant SKCA-BR 4 9240194 9240194 single base substitution A T downstream_gene_variant SKCA-BR 4 9240385 9240385 insertion of <=200bp - AAC downstream_gene_variant SKCA-BR 4 9240919 9240919 single base substitution T C downstream_gene_variant

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.528606;Hs.528615;Hs.528618;Hs.528621 4p16.1