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 9209250 9209250 single base substitution A T upstream_gene_variant BRCA-EU 4 9212342 9212342 single base substitution G C upstream_gene_variant BRCA-EU 4 9212395 9212395 single base substitution T C missense_variant S5P 13T>C BRCA-EU 4 9213766 9213766 single base substitution G A intron_variant BRCA-EU 4 9216954 9216954 single base substitution G C intron_variant ESAD-UK 4 9209028 9209028 single base substitution T G upstream_gene_variant ESAD-UK 4 9210497 9210497 single base substitution G A upstream_gene_variant ESCA-CN 4 9221454 9221454 insertion of <=200bp - CA intron_variant LAML-KR 4 9212541 9212541 single base substitution T C synonymous_variant D53D 159T>C LAML-KR 4 9214899 9214899 single base substitution G C intron_variant LAML-KR 4 9215743 9215743 single base substitution G C intron_variant LAML-KR 4 9215753 9215753 single base substitution A G intron_variant LAML-KR 4 9215920 9215920 single base substitution G A intron_variant LAML-KR 4 9216070 9216070 single base substitution T C intron_variant LAML-KR 4 9216074 9216074 single base substitution T C intron_variant LAML-KR 4 9216088 9216088 single base substitution C G intron_variant LAML-KR 4 9216102 9216102 single base substitution C A intron_variant LAML-KR 4 9216197 9216197 single base substitution T C intron_variant LAML-KR 4 9216354 9216354 single base substitution A C intron_variant LAML-KR 4 9216396 9216396 single base substitution G C intron_variant LAML-KR 4 9216436 9216436 single base substitution C T intron_variant LAML-KR 4 9216512 9216512 single base substitution T C intron_variant LAML-KR 4 9216528 9216528 single base substitution G A intron_variant LAML-KR 4 9216583 9216583 single base substitution G T intron_variant LAML-KR 4 9216594 9216594 single base substitution C T intron_variant LAML-KR 4 9216674 9216674 single base substitution G A intron_variant LAML-KR 4 9216676 9216676 single base substitution G A intron_variant LAML-KR 4 9216686 9216686 single base substitution C A intron_variant LAML-KR 4 9216736 9216736 single base substitution C G intron_variant LAML-KR 4 9216762 9216762 single base substitution T A intron_variant LAML-KR 4 9216954 9216954 single base substitution G C intron_variant LAML-KR 4 9217150 9217150 single base substitution A T intron_variant LAML-KR 4 9217151 9217151 single base substitution C G intron_variant LAML-KR 4 9217567 9217567 single base substitution C A intron_variant LAML-KR 4 9218059 9218059 single base substitution C A intron_variant LAML-KR 4 9218392 9218392 single base substitution A G intron_variant LAML-KR 4 9218814 9218814 single base substitution C T intron_variant LAML-KR 4 9218849 9218849 single base substitution T C intron_variant LAML-KR 4 9219022 9219022 single base substitution T C intron_variant LAML-KR 4 9219287 9219287 single base substitution T A intron_variant LAML-KR 4 9219512 9219512 single base substitution C A intron_variant LAML-KR 4 9220227 9220227 single base substitution T C intron_variant LAML-KR 4 9220675 9220675 single base substitution T C intron_variant LAML-KR 4 9220678 9220678 single base substitution G A intron_variant LAML-KR 4 9221093 9221093 single base substitution C G intron_variant LAML-KR 4 9221153 9221153 single base substitution G C intron_variant LAML-KR 4 9221287 9221287 single base substitution A G intron_variant LAML-KR 4 9221306 9221306 single base substitution T C intron_variant LAML-KR 4 9221349 9221349 single base substitution G T intron_variant LAML-KR 4 9221404 9221404 single base substitution C A intron_variant LAML-KR 4 9221421 9221421 single base substitution G A intron_variant LAML-KR 4 9221426 9221426 single base substitution C A intron_variant LAML-KR 4 9221432 9221432 single base substitution A C intron_variant LAML-KR 4 9221433 9221433 single base substitution C A intron_variant LAML-KR 4 9221446 9221446 single base substitution G A intron_variant LAML-KR 4 9221453 9221453 single base substitution A C intron_variant LAML-KR 4 9221600 9221600 single base substitution C G intron_variant LAML-KR 4 9221627 9221627 single base substitution C A intron_variant LAML-KR 4 9221627 9221627 single base substitution C A upstream_gene_variant LAML-KR 4 9221665 9221665 single base substitution C G intron_variant LAML-KR 4 9221665 9221665 single base substitution C G upstream_gene_variant LAML-KR 4 9221701 9221701 single base substitution G C intron_variant LAML-KR 4 9221701 9221701 single base substitution G C upstream_gene_variant LAML-KR 4 9222036 9222036 single base substitution T C intron_variant LAML-KR 4 9222036 9222036 single base substitution T C upstream_gene_variant LAML-KR 4 9222968 9222968 single base substitution G A intron_variant LAML-KR 4 9222968 9222968 single base substitution G A upstream_gene_variant LAML-KR 4 9223053 9223053 single base substitution A T intron_variant LAML-KR 4 9223053 9223053 single base substitution A T upstream_gene_variant LAML-KR 4 9223167 9223167 single base substitution G C intron_variant LAML-KR 4 9223167 9223167 single base substitution G C upstream_gene_variant LAML-KR 4 9223342 9223342 single base substitution C A intron_variant LAML-KR 4 9223342 9223342 single base substitution C A upstream_gene_variant LAML-KR 4 9223561 9223561 single base substitution C T intron_variant LAML-KR 4 9223561 9223561 single base substitution C T upstream_gene_variant LAML-KR 4 9224975 9224975 single base substitution T C intron_variant LAML-KR 4 9224975 9224975 single base substitution T C upstream_gene_variant LAML-KR 4 9225015 9225015 single base substitution T C intron_variant LAML-KR 4 9225015 9225015 single base substitution T C upstream_gene_variant LAML-KR 4 9225112 9225112 single base substitution T C intron_variant LAML-KR 4 9225112 9225112 single base substitution T C upstream_gene_variant LAML-KR 4 9225248 9225248 single base substitution A G intron_variant LAML-KR 4 9225248 9225248 single base substitution A G upstream_gene_variant LAML-KR 4 9225622 9225622 single base substitution T C intron_variant LAML-KR 4 9225622 9225622 single base substitution T C upstream_gene_variant LAML-KR 4 9225930 9225930 single base substitution C T intron_variant LAML-KR 4 9225930 9225930 single base substitution C T upstream_gene_variant LAML-KR 4 9226006 9226006 single base substitution C T intron_variant LAML-KR 4 9226006 9226006 single base substitution C T upstream_gene_variant LAML-KR 4 9226271 9226271 single base substitution C T intron_variant LAML-KR 4 9226271 9226271 single base substitution C T upstream_gene_variant LAML-KR 4 9226343 9226343 single base substitution C G intron_variant LAML-KR 4 9226343 9226343 single base substitution C G upstream_gene_variant LAML-KR 4 9226630 9226630 single base substitution G C intron_variant LAML-KR 4 9226630 9226630 single base substitution G C missense_variant E3D 9G>C LAML-KR 4 9226696 9226696 single base substitution C A intron_variant LAML-KR 4 9226696 9226696 single base substitution C A synonymous_variant L25L 75C>A LAML-KR 4 9227065 9227065 single base substitution A T synonymous_variant A148A 444A>T LAML-KR 4 9228305 9228305 single base substitution C T downstream_gene_variant LAML-KR 4 9228566 9228566 single base substitution T G downstream_gene_variant LAML-KR 4 9229719 9229719 single base substitution T C downstream_gene_variant LAML-KR 4 9230085 9230085 single base substitution T C downstream_gene_variant LAML-KR 4 9230190 9230190 single base substitution G C downstream_gene_variant LAML-KR 4 9230463 9230463 single base substitution C A downstream_gene_variant LAML-KR 4 9230675 9230675 single base substitution C T downstream_gene_variant LAML-KR 4 9230751 9230751 single base substitution C T downstream_gene_variant LAML-KR 4 9230767 9230767 single base substitution G A downstream_gene_variant LAML-KR 4 9230827 9230827 single base substitution C G downstream_gene_variant LAML-KR 4 9230977 9230977 single base substitution G A downstream_gene_variant LAML-KR 4 9231026 9231026 single base substitution A G downstream_gene_variant LAML-KR 4 9231088 9231088 single base substitution C G downstream_gene_variant LAML-KR 4 9231338 9231338 single base substitution C A downstream_gene_variant LAML-KR 4 9231810 9231810 single base substitution A T downstream_gene_variant LAML-KR 4 9232439 9232439 single base substitution G C downstream_gene_variant LAML-KR 4 9233122 9233122 single base substitution G A downstream_gene_variant LAML-KR 4 9233128 9233128 single base substitution A G downstream_gene_variant LICA-FR 4 9216369 9216369 single base substitution A T intron_variant LICA-FR 4 9216476 9216476 single base substitution A C intron_variant LICA-FR 4 9216525 9216525 single base substitution T C intron_variant LICA-FR 4 9216594 9216594 single base substitution C T intron_variant LICA-FR 4 9216674 9216674 single base substitution G A intron_variant LICA-FR 4 9216681 9216681 single base substitution C A intron_variant LICA-FR 4 9217106 9217106 single base substitution C G intron_variant LICA-FR 4 9217161 9217161 single base substitution G T intron_variant LIRI-JP 4 9209348 9209348 single base substitution C G upstream_gene_variant LIRI-JP 4 9209382 9209382 single base substitution A T upstream_gene_variant LIRI-JP 4 9209387 9209387 single base substitution A G upstream_gene_variant LIRI-JP 4 9212489 9212489 single base substitution C A missense_variant S36Y 107C>A LUSC-KR 4 9213672 9213672 single base substitution G C intron_variant LUSC-KR 4 9214860 9214860 single base substitution G T intron_variant LUSC-KR 4 9216049 9216049 single base substitution C A intron_variant LUSC-KR 4 9216088 9216088 single base substitution C G intron_variant LUSC-KR 4 9216224 9216224 single base substitution C A intron_variant LUSC-KR 4 9216366 9216366 single base substitution T C intron_variant LUSC-KR 4 9216436 9216436 single base substitution C T intron_variant LUSC-KR 4 9216479 9216479 single base substitution G T intron_variant LUSC-KR 4 9216487 9216487 single base substitution G A intron_variant LUSC-KR 4 9216495 9216495 single base substitution G T intron_variant LUSC-KR 4 9216583 9216583 single base substitution G T intron_variant LUSC-KR 4 9216954 9216954 single base substitution G C intron_variant LUSC-KR 4 9217119 9217119 single base substitution G T intron_variant LUSC-KR 4 9217151 9217151 single base substitution C G intron_variant LUSC-KR 4 9217197 9217197 single base substitution T C intron_variant LUSC-KR 4 9217205 9217205 single base substitution C A intron_variant LUSC-KR 4 9217289 9217289 single base substitution T C intron_variant LUSC-KR 4 9217685 9217685 single base substitution T G intron_variant LUSC-KR 4 9218364 9218364 single base substitution C T intron_variant LUSC-KR 4 9218366 9218366 single base substitution C T intron_variant LUSC-KR 4 9218590 9218590 single base substitution T A intron_variant LUSC-KR 4 9218686 9218686 single base substitution A G intron_variant LUSC-KR 4 9219086 9219086 single base substitution C A intron_variant LUSC-KR 4 9219129 9219129 single base substitution C T intron_variant LUSC-KR 4 9221106 9221106 single base substitution T A intron_variant LUSC-KR 4 9221421 9221421 single base substitution G A intron_variant LUSC-KR 4 9221423 9221423 single base substitution G A intron_variant LUSC-KR 4 9221509 9221509 single base substitution T A intron_variant LUSC-KR 4 9221565 9221565 single base substitution T C intron_variant LUSC-KR 4 9221600 9221600 single base substitution C G intron_variant LUSC-KR 4 9222036 9222036 single base substitution T C intron_variant LUSC-KR 4 9222036 9222036 single base substitution T C upstream_gene_variant LUSC-KR 4 9222822 9222822 single base substitution C T intron_variant LUSC-KR 4 9222822 9222822 single base substitution C T upstream_gene_variant LUSC-KR 4 9222956 9222956 single base substitution C T intron_variant LUSC-KR 4 9222956 9222956 single base substitution C T upstream_gene_variant LUSC-KR 4 9223596 9223596 single base substitution T C intron_variant LUSC-KR 4 9223596 9223596 single base substitution T C upstream_gene_variant LUSC-KR 4 9226067 9226067 single base substitution G C intron_variant LUSC-KR 4 9226067 9226067 single base substitution G C upstream_gene_variant LUSC-KR 4 9226082 9226082 single base substitution C G intron_variant LUSC-KR 4 9226082 9226082 single base substitution C G upstream_gene_variant LUSC-KR 4 9226211 9226211 single base substitution G T intron_variant LUSC-KR 4 9226211 9226211 single base substitution G T upstream_gene_variant LUSC-KR 4 9226232 9226232 single base substitution G A intron_variant LUSC-KR 4 9226232 9226232 single base substitution G A upstream_gene_variant LUSC-KR 4 9226271 9226271 single base substitution C T intron_variant LUSC-KR 4 9226271 9226271 single base substitution C T upstream_gene_variant LUSC-KR 4 9226370 9226370 single base substitution C A intron_variant LUSC-KR 4 9226370 9226370 single base substitution C A upstream_gene_variant LUSC-KR 4 9226567 9226567 single base substitution T C intron_variant LUSC-KR 4 9226567 9226567 single base substitution T C upstream_gene_variant LUSC-KR 4 9226593 9226593 single base substitution C A intron_variant LUSC-KR 4 9226593 9226593 single base substitution C A upstream_gene_variant LUSC-KR 4 9227612 9227612 single base substitution C T missense_variant H331Y 991C>T LUSC-KR 4 9227637 9227637 single base substitution T C missense_variant V339A 1016T>C LUSC-KR 4 9227712 9227712 single base substitution G C missense_variant S364T 1091G>C LUSC-KR 4 9227855 9227855 single base substitution C T missense_variant H412Y 1234C>T LUSC-KR 4 9227911 9227911 single base substitution G C missense_variant Q430H 1290G>C LUSC-KR 4 9228081 9228081 single base substitution T A missense_variant L487Q 1460T>A LUSC-KR 4 9228305 9228305 single base substitution C T downstream_gene_variant LUSC-KR 4 9231016 9231016 single base substitution C T downstream_gene_variant LUSC-KR 4 9231026 9231026 single base substitution A G downstream_gene_variant LUSC-KR 4 9231045 9231045 single base substitution A G downstream_gene_variant LUSC-KR 4 9231088 9231088 single base substitution C G downstream_gene_variant LUSC-KR 4 9231088 9231088 single base substitution C T downstream_gene_variant LUSC-KR 4 9231312 9231312 single base substitution T C downstream_gene_variant LUSC-KR 4 9231375 9231375 single base substitution G C downstream_gene_variant LUSC-KR 4 9232086 9232086 single base substitution G T downstream_gene_variant LUSC-KR 4 9233050 9233050 single base substitution C T downstream_gene_variant MELA-AU 4 9207646 9207646 single base substitution A G upstream_gene_variant MELA-AU 4 9207806 9207806 single base substitution G A upstream_gene_variant MELA-AU 4 9209058 9209058 single base substitution G A upstream_gene_variant MELA-AU 4 9209971 9209971 single base substitution G A upstream_gene_variant MELA-AU 4 9210047 9210047 single base substitution T G upstream_gene_variant MELA-AU 4 9210412 9210412 single base substitution G A upstream_gene_variant MELA-AU 4 9210428 9210428 single base substitution C T upstream_gene_variant MELA-AU 4 9211025 9211025 single base substitution C T upstream_gene_variant MELA-AU 4 9211825 9211825 single base substitution A G upstream_gene_variant MELA-AU 4 9212639 9212639 single base substitution G A intron_variant MELA-AU 4 9214961 9214961 single base substitution C T intron_variant MELA-AU 4 9215000 9215000 single base substitution C T intron_variant MELA-AU 4 9216601 9216601 single base substitution C T intron_variant MELA-AU 4 9225456 9225456 single base substitution C T intron_variant MELA-AU 4 9225456 9225456 single base substitution C T upstream_gene_variant PACA-AU 4 9208715 9208715 single base substitution T G upstream_gene_variant PACA-AU 4 9215053 9215053 single base substitution T C intron_variant PACA-CA 4 9211686 9211686 single base substitution C T upstream_gene_variant PACA-CA 4 9212687 9212687 single base substitution C T intron_variant PBCA-DE 4 9211957 9211958 deletion of <=200bp CA - upstream_gene_variant PBCA-DE 4 9214013 9214014 deletion of <=200bp AC - intron_variant PRAD-CA 4 9207867 9207867 single base substitution A C upstream_gene_variant PRAD-UK 4 9211872 9211872 single base substitution T C upstream_gene_variant SKCA-BR 4 9208790 9208790 single base substitution C T upstream_gene_variant SKCA-BR 4 9209653 9209653 single base substitution C T upstream_gene_variant SKCA-BR 4 9212499 9212499 single base substitution G A synonymous_variant E39E 117G>A SKCA-BR 4 9213673 9213673 single base substitution G A intron_variant SKCA-BR 4 9216382 9216382 single base substitution G A intron_variant SKCA-BR 4 9218121 9218121 single base substitution C T intron_variant SKCA-BR 4 9232168 9232168 single base substitution A G downstream_gene_variant

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.741127 4p16.1