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 9249652 9249652 single base substitution C T upstream_gene_variant BRCA-EU 4 9249705 9249705 single base substitution G T upstream_gene_variant BRCA-EU 4 9249724 9249724 single base substitution T G upstream_gene_variant BRCA-EU 4 9249958 9249958 single base substitution T A upstream_gene_variant BRCA-EU 4 9254594 9254594 single base substitution T C downstream_gene_variant BRCA-EU 4 9254807 9254807 single base substitution C T downstream_gene_variant BRCA-FR 4 9249518 9249518 single base substitution C T upstream_gene_variant BRCA-FR 4 9249619 9249619 single base substitution A G upstream_gene_variant BRCA-FR 4 9249682 9249682 single base substitution G T upstream_gene_variant BRCA-FR 4 9249733 9249733 single base substitution A T upstream_gene_variant BRCA-FR 4 9250050 9250050 single base substitution C T upstream_gene_variant BRCA-FR 4 9250095 9250095 single base substitution T C upstream_gene_variant BRCA-UK 4 9250386 9250386 single base substitution G T stop_gained E11* 31G>T COCA-CN 4 9249568 9249568 single base substitution C G upstream_gene_variant COCA-CN 4 9249789 9249789 single base substitution C A upstream_gene_variant COCA-CN 4 9250376 9250376 single base substitution C G stop_gained Y7* 21C>G KIRC-US 4 9250368 9250368 single base substitution T C missense_variant S5P 13T>C LAML-KR 4 9245427 9245427 single base substitution G C upstream_gene_variant LAML-KR 4 9245763 9245763 single base substitution T C upstream_gene_variant LAML-KR 4 9245855 9245855 single base substitution A T upstream_gene_variant LAML-KR 4 9246838 9246838 single base substitution C T upstream_gene_variant LAML-KR 4 9246858 9246858 single base substitution C A upstream_gene_variant LAML-KR 4 9246862 9246862 single base substitution T G upstream_gene_variant LAML-KR 4 9247288 9247288 single base substitution C T upstream_gene_variant LAML-KR 4 9247688 9247688 single base substitution A G upstream_gene_variant LAML-KR 4 9248102 9248102 single base substitution G T upstream_gene_variant LAML-KR 4 9248599 9248599 single base substitution G T upstream_gene_variant LAML-KR 4 9249020 9249020 single base substitution G C upstream_gene_variant LAML-KR 4 9249142 9249142 single base substitution G A upstream_gene_variant LAML-KR 4 9249173 9249173 single base substitution G C upstream_gene_variant LAML-KR 4 9249241 9249241 single base substitution C T upstream_gene_variant LAML-KR 4 9249274 9249274 single base substitution A G upstream_gene_variant LAML-KR 4 9249298 9249298 single base substitution T C upstream_gene_variant LAML-KR 4 9249310 9249310 single base substitution C G upstream_gene_variant LAML-KR 4 9249568 9249568 single base substitution C G upstream_gene_variant LAML-KR 4 9249748 9249748 single base substitution A G upstream_gene_variant LAML-KR 4 9249789 9249789 single base substitution C A upstream_gene_variant LAML-KR 4 9249879 9249879 single base substitution A C upstream_gene_variant LAML-KR 4 9249898 9249898 single base substitution G A upstream_gene_variant LAML-KR 4 9249921 9249921 single base substitution G A upstream_gene_variant LAML-KR 4 9249986 9249986 single base substitution T A upstream_gene_variant LAML-KR 4 9250053 9250053 single base substitution A G upstream_gene_variant LAML-KR 4 9250077 9250077 single base substitution C G 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 synonymous_variant P25P 75C>A LAML-KR 4 9250606 9250606 single base substitution A T missense_variant N84I 251A>T LAML-KR 4 9250640 9250640 single base substitution G A synonymous_variant L95L 285G>A LAML-KR 4 9250903 9250903 single base substitution T C missense_variant V183A 548T>C LAML-KR 4 9251284 9251284 single base substitution C A missense_variant T310K 929C>A LAML-KR 4 9251589 9251589 single base substitution C T missense_variant H412Y 1234C>T LAML-KR 4 9252039 9252039 single base substitution C T downstream_gene_variant LAML-KR 4 9252111 9252111 single base substitution G A downstream_gene_variant LAML-KR 4 9252117 9252117 single base substitution A G downstream_gene_variant LAML-KR 4 9253463 9253463 single base substitution T C downstream_gene_variant LAML-KR 4 9253465 9253465 single base substitution A C downstream_gene_variant LAML-KR 4 9254539 9254539 single base substitution C A downstream_gene_variant LAML-KR 4 9254629 9254629 single base substitution C A downstream_gene_variant LAML-KR 4 9254694 9254694 single base substitution T G downstream_gene_variant LAML-KR 4 9254732 9254732 single base substitution T G downstream_gene_variant LAML-KR 4 9254802 9254802 single base substitution A G downstream_gene_variant LAML-KR 4 9254826 9254826 single base substitution C G downstream_gene_variant LAML-KR 4 9254927 9254927 single base substitution G C downstream_gene_variant LAML-KR 4 9255178 9255178 single base substitution C A downstream_gene_variant LAML-KR 4 9255262 9255262 single base substitution T C downstream_gene_variant LAML-KR 4 9255547 9255547 single base substitution A T downstream_gene_variant LAML-KR 4 9255651 9255651 single base substitution T C downstream_gene_variant LAML-KR 4 9256337 9256337 single base substitution C T downstream_gene_variant LAML-KR 4 9256582 9256582 single base substitution C A downstream_gene_variant LAML-KR 4 9256787 9256787 single base substitution C T downstream_gene_variant LICA-FR 4 9245400 9245400 single base substitution T C upstream_gene_variant LICA-FR 4 9249517 9249517 single base substitution A C upstream_gene_variant LICA-FR 4 9249581 9249581 single base substitution T A upstream_gene_variant LICA-FR 4 9249691 9249691 single base substitution T C upstream_gene_variant LICA-FR 4 9249750 9249750 single base substitution G A upstream_gene_variant LICA-FR 4 9249816 9249816 single base substitution T C upstream_gene_variant LICA-FR 4 9249824 9249824 single base substitution G T upstream_gene_variant LICA-FR 4 9250053 9250053 single base substitution A G upstream_gene_variant LICA-FR 4 9250102 9250102 single base substitution G A upstream_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 stop_gained E11* 31G>T LICA-FR 4 9250437 9250437 single base substitution G T missense_variant A28S 82G>T LICA-FR 4 9254851 9254851 single base substitution G A downstream_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 9245361 9245361 single base substitution G C upstream_gene_variant LUSC-KR 4 9245370 9245370 single base substitution C T upstream_gene_variant LUSC-KR 4 9245380 9245380 single base substitution A C upstream_gene_variant LUSC-KR 4 9245427 9245427 single base substitution G C upstream_gene_variant LUSC-KR 4 9245550 9245550 single base substitution T C upstream_gene_variant LUSC-KR 4 9245568 9245568 single base substitution C A upstream_gene_variant LUSC-KR 4 9245631 9245631 single base substitution A T upstream_gene_variant LUSC-KR 4 9245671 9245671 single base substitution T G upstream_gene_variant LUSC-KR 4 9245743 9245743 single base substitution A T upstream_gene_variant LUSC-KR 4 9245763 9245763 single base substitution T C upstream_gene_variant LUSC-KR 4 9246222 9246222 single base substitution G C upstream_gene_variant LUSC-KR 4 9246554 9246554 single base substitution A G upstream_gene_variant LUSC-KR 4 9246573 9246573 single base substitution G T upstream_gene_variant LUSC-KR 4 9246595 9246595 single base substitution C T upstream_gene_variant LUSC-KR 4 9246838 9246838 single base substitution C T upstream_gene_variant LUSC-KR 4 9246840 9246840 single base substitution C T upstream_gene_variant LUSC-KR 4 9247083 9247083 single base substitution C A upstream_gene_variant LUSC-KR 4 9247404 9247404 single base substitution G C upstream_gene_variant LUSC-KR 4 9249142 9249142 single base substitution G A upstream_gene_variant LUSC-KR 4 9249233 9249233 single base substitution C T upstream_gene_variant LUSC-KR 4 9249290 9249290 single base substitution T A upstream_gene_variant LUSC-KR 4 9249397 9249397 single base substitution C T upstream_gene_variant LUSC-KR 4 9249427 9249427 single base substitution G A upstream_gene_variant LUSC-KR 4 9249554 9249554 single base substitution T G upstream_gene_variant LUSC-KR 4 9249581 9249581 single base substitution T A upstream_gene_variant LUSC-KR 4 9249610 9249610 single base substitution C G upstream_gene_variant LUSC-KR 4 9249800 9249800 single base substitution C A upstream_gene_variant LUSC-KR 4 9249879 9249879 single base substitution A C upstream_gene_variant LUSC-KR 4 9249906 9249906 single base substitution C A upstream_gene_variant LUSC-KR 4 9249921 9249921 single base substitution G A upstream_gene_variant LUSC-KR 4 9250053 9250053 single base substitution A G upstream_gene_variant LUSC-KR 4 9250077 9250077 single base substitution C G 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 synonymous_variant P25P 75C>A LUSC-KR 4 9250478 9250478 single base substitution A G synonymous_variant S41S 123A>G LUSC-KR 4 9250514 9250514 single base substitution T C synonymous_variant D53D 159T>C LUSC-KR 4 9250606 9250606 single base substitution A T missense_variant N84I 251A>T LUSC-KR 4 9250662 9250662 single base substitution C T missense_variant P103S 307C>T LUSC-KR 4 9250736 9250736 single base substitution G T synonymous_variant T127T 381G>T LUSC-KR 4 9250799 9250799 single base substitution A T synonymous_variant A148A 444A>T LUSC-KR 4 9251589 9251589 single base substitution C T missense_variant H412Y 1234C>T LUSC-KR 4 9251815 9251815 single base substitution T A missense_variant L487Q 1460T>A LUSC-KR 4 9254826 9254826 single base substitution C G downstream_gene_variant LUSC-KR 4 9254940 9254940 single base substitution C T downstream_gene_variant LUSC-KR 4 9255178 9255178 single base substitution C A downstream_gene_variant LUSC-KR 4 9255262 9255262 single base substitution T C downstream_gene_variant LUSC-KR 4 9255484 9255484 single base substitution G T downstream_gene_variant LUSC-KR 4 9255547 9255547 single base substitution A T downstream_gene_variant LUSC-KR 4 9256337 9256337 single base substitution C T downstream_gene_variant MELA-AU 4 9249956 9249956 single base substitution C T upstream_gene_variant MELA-AU 4 9249960 9249960 single base substitution C T upstream_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 OV-AU 4 9249897 9249897 single base substitution C G upstream_gene_variant PACA-AU 4 9249765 9249765 single base substitution A G upstream_gene_variant PACA-AU 4 9249789 9249789 single base substitution C A upstream_gene_variant PACA-AU 4 9249908 9249908 single base substitution C T upstream_gene_variant PACA-AU 4 9250276 9250276 single base substitution A G upstream_gene_variant PACA-CA 4 9249898 9249898 single base substitution G A upstream_gene_variant PAEN-AU 4 9249813 9249813 single base substitution G C upstream_gene_variant PAEN-AU 4 9250013 9250013 single base substitution C T 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 downstream_gene_variant PRAD-UK 4 9254853 9254853 single base substitution C A downstream_gene_variant PRAD-US 4 9245880 9245880 deletion of <=200bp C - upstream_gene_variant RECA-EU 4 9254658 9254658 single base substitution A C downstream_gene_variant SKCA-BR 4 9248155 9248155 single base substitution T G upstream_gene_variant SKCA-BR 4 9249576 9249576 single base substitution C A upstream_gene_variant SKCA-BR 4 9249781 9249781 single base substitution T C upstream_gene_variant SKCA-BR 4 9249789 9249789 single base substitution C A upstream_gene_variant SKCA-BR 4 9249879 9249879 single base substitution A C upstream_gene_variant SKCA-BR 4 9249921 9249921 single base substitution G A 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 stop_gained Y7* 21C>G SKCA-BR 4 9250430 9250430 single base substitution C A synonymous_variant P25P 75C>A

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.741138 4p16.1