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 9254594 9254594 single base substitution T C upstream_gene_variant BRCA-EU 4 9254807 9254807 single base substitution C T upstream_gene_variant BRCA-UK 4 9250386 9250386 single base substitution G T upstream_gene_variant COCA-CN 4 9250376 9250376 single base substitution C G upstream_gene_variant KIRC-US 4 9250368 9250368 single base substitution T C upstream_gene_variant LAML-KR 4 9250104 9250104 single base substitution C A upstream_gene_variant LAML-KR 4 9250181 9250181 single base substitution T C upstream_gene_variant LAML-KR 4 9250210 9250210 single base substitution T G upstream_gene_variant LAML-KR 4 9250238 9250238 single base substitution A T upstream_gene_variant LAML-KR 4 9250430 9250430 single base substitution C A upstream_gene_variant LAML-KR 4 9250606 9250606 single base substitution A T upstream_gene_variant LAML-KR 4 9250640 9250640 single base substitution G A upstream_gene_variant LAML-KR 4 9250903 9250903 single base substitution T C upstream_gene_variant LAML-KR 4 9251284 9251284 single base substitution C A upstream_gene_variant LAML-KR 4 9251589 9251589 single base substitution C T upstream_gene_variant LAML-KR 4 9252039 9252039 single base substitution C T upstream_gene_variant LAML-KR 4 9252111 9252111 single base substitution G A upstream_gene_variant LAML-KR 4 9252117 9252117 single base substitution A G upstream_gene_variant LAML-KR 4 9253463 9253463 single base substitution T C upstream_gene_variant LAML-KR 4 9253465 9253465 single base substitution A C upstream_gene_variant LAML-KR 4 9254539 9254539 single base substitution C A upstream_gene_variant LAML-KR 4 9254629 9254629 single base substitution C A upstream_gene_variant LAML-KR 4 9254694 9254694 single base substitution T G upstream_gene_variant LAML-KR 4 9254732 9254732 single base substitution T G upstream_gene_variant LAML-KR 4 9254802 9254802 single base substitution A G upstream_gene_variant LAML-KR 4 9254826 9254826 single base substitution C G upstream_gene_variant LAML-KR 4 9254927 9254927 single base substitution G C upstream_gene_variant LAML-KR 4 9255178 9255178 single base substitution C A synonymous_variant P25P 75C>A LAML-KR 4 9255262 9255262 single base substitution T C synonymous_variant D53D 159T>C LAML-KR 4 9255547 9255547 single base substitution A T synonymous_variant A148A 444A>T LAML-KR 4 9255651 9255651 single base substitution T C missense_variant V183A 548T>C LAML-KR 4 9256337 9256337 single base substitution C T missense_variant H412Y 1234C>T LAML-KR 4 9256582 9256582 single base substitution C A synonymous_variant T493T 1479C>A LAML-KR 4 9256787 9256787 single base substitution C T downstream_gene_variant LAML-KR 4 9257187 9257187 single base substitution A G downstream_gene_variant LAML-KR 4 9257601 9257601 single base substitution G T downstream_gene_variant LAML-KR 4 9258141 9258141 single base substitution A G downstream_gene_variant LAML-KR 4 9258180 9258180 single base substitution A C downstream_gene_variant LAML-KR 4 9258261 9258261 single base substitution G T downstream_gene_variant LAML-KR 4 9258464 9258464 single base substitution G C downstream_gene_variant LAML-KR 4 9258558 9258558 single base substitution A G downstream_gene_variant LAML-KR 4 9258567 9258567 single base substitution T C downstream_gene_variant LAML-KR 4 9258626 9258626 single base substitution T G downstream_gene_variant LAML-KR 4 9258641 9258641 single base substitution G A downstream_gene_variant LAML-KR 4 9258982 9258982 single base substitution G A downstream_gene_variant LAML-KR 4 9259017 9259017 single base substitution C T downstream_gene_variant LAML-KR 4 9259157 9259157 single base substitution C T downstream_gene_variant LAML-KR 4 9259233 9259233 single base substitution C T downstream_gene_variant LAML-KR 4 9259355 9259355 single base substitution C A downstream_gene_variant LAML-KR 4 9259364 9259364 single base substitution G A downstream_gene_variant LAML-KR 4 9259460 9259460 single base substitution G A downstream_gene_variant LAML-KR 4 9259499 9259499 single base substitution C T downstream_gene_variant LAML-KR 4 9259504 9259504 single base substitution A T downstream_gene_variant LAML-KR 4 9260008 9260008 single base substitution T C downstream_gene_variant LAML-KR 4 9260293 9260293 single base substitution A T downstream_gene_variant LAML-KR 4 9260940 9260940 single base substitution G A downstream_gene_variant LAML-KR 4 9261139 9261139 single base substitution G C downstream_gene_variant LICA-FR 4 9250257 9250257 single base substitution C A upstream_gene_variant LICA-FR 4 9250386 9250386 single base substitution G T upstream_gene_variant LICA-FR 4 9250437 9250437 single base substitution G T upstream_gene_variant LICA-FR 4 9254851 9254851 single base substitution G A upstream_gene_variant LIRI-JP 4 9250257 9250257 single base substitution C A upstream_gene_variant LIRI-JP 4 9250274 9250274 single base substitution G A upstream_gene_variant LUSC-KR 4 9250112 9250112 single base substitution G C upstream_gene_variant LUSC-KR 4 9250119 9250119 single base substitution T A upstream_gene_variant LUSC-KR 4 9250151 9250151 single base substitution T C upstream_gene_variant LUSC-KR 4 9250178 9250178 single base substitution G C upstream_gene_variant LUSC-KR 4 9250182 9250182 single base substitution G T upstream_gene_variant LUSC-KR 4 9250430 9250430 single base substitution C A upstream_gene_variant LUSC-KR 4 9250478 9250478 single base substitution A G upstream_gene_variant LUSC-KR 4 9250514 9250514 single base substitution T C upstream_gene_variant LUSC-KR 4 9250606 9250606 single base substitution A T upstream_gene_variant LUSC-KR 4 9250662 9250662 single base substitution C T upstream_gene_variant LUSC-KR 4 9250736 9250736 single base substitution G T upstream_gene_variant LUSC-KR 4 9250799 9250799 single base substitution A T upstream_gene_variant LUSC-KR 4 9251589 9251589 single base substitution C T upstream_gene_variant LUSC-KR 4 9251815 9251815 single base substitution T A upstream_gene_variant LUSC-KR 4 9254826 9254826 single base substitution C G upstream_gene_variant LUSC-KR 4 9254940 9254940 single base substitution C T upstream_gene_variant LUSC-KR 4 9255178 9255178 single base substitution C A synonymous_variant P25P 75C>A LUSC-KR 4 9255262 9255262 single base substitution T C synonymous_variant D53D 159T>C LUSC-KR 4 9255484 9255484 single base substitution G T synonymous_variant T127T 381G>T LUSC-KR 4 9255547 9255547 single base substitution A T synonymous_variant A148A 444A>T LUSC-KR 4 9256337 9256337 single base substitution C T missense_variant H412Y 1234C>T LUSC-KR 4 9259355 9259355 single base substitution C A downstream_gene_variant LUSC-KR 4 9259439 9259439 single base substitution G T downstream_gene_variant LUSC-KR 4 9259666 9259666 single base substitution T A downstream_gene_variant LUSC-KR 4 9259916 9259916 single base substitution T C downstream_gene_variant LUSC-KR 4 9259916 9259916 single base substitution T G downstream_gene_variant LUSC-KR 4 9259924 9259924 single base substitution C A downstream_gene_variant LUSC-KR 4 9260008 9260008 single base substitution T C downstream_gene_variant LUSC-KR 4 9260794 9260794 single base substitution C T downstream_gene_variant MELA-AU 4 9250189 9250189 single base substitution C T upstream_gene_variant MELA-AU 4 9250224 9250224 single base substitution G A upstream_gene_variant MELA-AU 4 9250287 9250287 single base substitution G A upstream_gene_variant PACA-AU 4 9250276 9250276 single base substitution A G upstream_gene_variant PRAD-UK 4 9250152 9250152 single base substitution C T upstream_gene_variant PRAD-UK 4 9254846 9254846 single base substitution C T upstream_gene_variant PRAD-UK 4 9254853 9254853 single base substitution C A upstream_gene_variant RECA-EU 4 9254658 9254658 single base substitution A C upstream_gene_variant SKCA-BR 4 9250178 9250178 single base substitution G C upstream_gene_variant SKCA-BR 4 9250226 9250226 single base substitution A T upstream_gene_variant SKCA-BR 4 9250376 9250376 single base substitution C G upstream_gene_variant SKCA-BR 4 9250430 9250430 single base substitution C A upstream_gene_variant SKCA-BR 4 9257187 9257187 single base substitution A G downstream_gene_variant

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.741137 4p16.1