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 missense_variant D462N 1384G>A BRCA-EU 4 9216954 9216954 single base substitution G C downstream_gene_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 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 downstream_gene_variant LAML-KR 4 9215743 9215743 single base substitution G C downstream_gene_variant LAML-KR 4 9215753 9215753 single base substitution A G downstream_gene_variant LAML-KR 4 9215920 9215920 single base substitution G A downstream_gene_variant LAML-KR 4 9216070 9216070 single base substitution T C downstream_gene_variant LAML-KR 4 9216074 9216074 single base substitution T C downstream_gene_variant LAML-KR 4 9216088 9216088 single base substitution C G downstream_gene_variant LAML-KR 4 9216102 9216102 single base substitution C A downstream_gene_variant LAML-KR 4 9216197 9216197 single base substitution T C downstream_gene_variant LAML-KR 4 9216354 9216354 single base substitution A C downstream_gene_variant LAML-KR 4 9216396 9216396 single base substitution G C downstream_gene_variant LAML-KR 4 9216436 9216436 single base substitution C T downstream_gene_variant LAML-KR 4 9216512 9216512 single base substitution T C downstream_gene_variant LAML-KR 4 9216528 9216528 single base substitution G A downstream_gene_variant LAML-KR 4 9216583 9216583 single base substitution G T downstream_gene_variant LAML-KR 4 9216594 9216594 single base substitution C T downstream_gene_variant LAML-KR 4 9216674 9216674 single base substitution G A downstream_gene_variant LAML-KR 4 9216676 9216676 single base substitution G A downstream_gene_variant LAML-KR 4 9216686 9216686 single base substitution C A downstream_gene_variant LAML-KR 4 9216736 9216736 single base substitution C G downstream_gene_variant LAML-KR 4 9216762 9216762 single base substitution T A downstream_gene_variant LAML-KR 4 9216954 9216954 single base substitution G C downstream_gene_variant LAML-KR 4 9217150 9217150 single base substitution A T downstream_gene_variant LAML-KR 4 9217151 9217151 single base substitution C G downstream_gene_variant LAML-KR 4 9217567 9217567 single base substitution C A downstream_gene_variant LAML-KR 4 9218059 9218059 single base substitution C A downstream_gene_variant LAML-KR 4 9218392 9218392 single base substitution A G downstream_gene_variant LAML-KR 4 9218814 9218814 single base substitution C T downstream_gene_variant LAML-KR 4 9218849 9218849 single base substitution T C downstream_gene_variant LICA-FR 4 9216369 9216369 single base substitution A T downstream_gene_variant LICA-FR 4 9216476 9216476 single base substitution A C downstream_gene_variant LICA-FR 4 9216525 9216525 single base substitution T C downstream_gene_variant LICA-FR 4 9216594 9216594 single base substitution C T downstream_gene_variant LICA-FR 4 9216674 9216674 single base substitution G A downstream_gene_variant LICA-FR 4 9216681 9216681 single base substitution C A downstream_gene_variant LICA-FR 4 9217106 9217106 single base substitution C G downstream_gene_variant LICA-FR 4 9217161 9217161 single base substitution G T downstream_gene_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 missense_variant Q430H 1290G>C LUSC-KR 4 9214860 9214860 single base substitution G T downstream_gene_variant LUSC-KR 4 9216049 9216049 single base substitution C A downstream_gene_variant LUSC-KR 4 9216088 9216088 single base substitution C G downstream_gene_variant LUSC-KR 4 9216224 9216224 single base substitution C A downstream_gene_variant LUSC-KR 4 9216366 9216366 single base substitution T C downstream_gene_variant LUSC-KR 4 9216436 9216436 single base substitution C T downstream_gene_variant LUSC-KR 4 9216479 9216479 single base substitution G T downstream_gene_variant LUSC-KR 4 9216487 9216487 single base substitution G A downstream_gene_variant LUSC-KR 4 9216495 9216495 single base substitution G T downstream_gene_variant LUSC-KR 4 9216583 9216583 single base substitution G T downstream_gene_variant LUSC-KR 4 9216954 9216954 single base substitution G C downstream_gene_variant LUSC-KR 4 9217119 9217119 single base substitution G T downstream_gene_variant LUSC-KR 4 9217151 9217151 single base substitution C G downstream_gene_variant LUSC-KR 4 9217197 9217197 single base substitution T C downstream_gene_variant LUSC-KR 4 9217205 9217205 single base substitution C A downstream_gene_variant LUSC-KR 4 9217289 9217289 single base substitution T C downstream_gene_variant LUSC-KR 4 9217685 9217685 single base substitution T G downstream_gene_variant LUSC-KR 4 9218364 9218364 single base substitution C T downstream_gene_variant LUSC-KR 4 9218366 9218366 single base substitution C T downstream_gene_variant LUSC-KR 4 9218590 9218590 single base substitution T A downstream_gene_variant LUSC-KR 4 9218686 9218686 single base substitution A G 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 missense_variant G86E 257G>A MELA-AU 4 9214961 9214961 single base substitution C T downstream_gene_variant MELA-AU 4 9215000 9215000 single base substitution C T downstream_gene_variant MELA-AU 4 9216601 9216601 single base substitution C T downstream_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 downstream_gene_variant PACA-CA 4 9211686 9211686 single base substitution C T upstream_gene_variant PACA-CA 4 9212687 9212687 single base substitution C T missense_variant P102L 305C>T PBCA-DE 4 9211957 9211958 deletion of <=200bp CA - upstream_gene_variant PBCA-DE 4 9214013 9214014 deletion of <=200bp AC - downstream_gene_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 missense_variant E431K 1291G>A SKCA-BR 4 9216382 9216382 single base substitution G A downstream_gene_variant SKCA-BR 4 9218121 9218121 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SNUH_G16_S1 COSM3683329 c.102T>G p.R34R Substitution - coding silent 4:9210758-9210758 + SNUH_G17_S1 COSM3683363 c.1453T>C p.S485P Substitution - Missense 4:9226348-9226348 + SNUH_G16_S1 COSM4003199 c.1091G>A p.S364N Substitution - Missense 4:9225986-9225986 + SNUH_G15_S1 COSM3683354 c.1211C>A p.T404K Substitution - Missense 4:9226106-9226106 + SNUH_G40_S1 COSM3683338 c.387A>C p.Q129H Substitution - Missense 4:9225282-9225282 + SNUH_G10_S1 COSM3683357 c.1236C>T p.H412H Substitution - coding silent 4:9226131-9226131 + SNUH_G17_S1 COSM3683362 c.1451G>C p.S484T Substitution - Missense 4:9226346-9226346 + SNUH_G37_S1 COSM3683327 c.40T>G p.F14V Substitution - Missense 4:9210696-9210696 + SNUH_G21_S1 COSM3683340 c.397A>C p.T133P Substitution - Missense 4:9225292-9225292 + SNUH_G11_S1 COSM3683345 c.760T>G p.C254G Substitution - Missense 4:9225655-9225655 + SNUH_G26_S1 COSM3683351 c.1170A>C p.E390D Substitution - Missense 4:9226065-9226065 + SNUH_G11_S1 COSM3683355 c.1214A>C p.Q405P Substitution - Missense 4:9226109-9226109 + SNUH_G57_S1 COSM3683343 c.473A>G p.Q158R Substitution - Missense 4:9225368-9225368 + SNUH_G10_S1 COSM3683339 c.391C>G p.H131D Substitution - Missense 4:9225286-9225286 + SNUH_G17_S1 COSM3683349 c.1063A>C p.T355P Substitution - Missense 4:9225958-9225958 + Detroit_562 COSM4594750 c.21C>G p.Y7* Substitution - Nonsense 4:9210677-9210677 + SNUH_G10_S1 COSM3683350 c.1069G>C p.A357P Substitution - Missense 4:9225964-9225964 + SNUH_G17_S1 COSM3683359 c.1304A>C p.D435A Substitution - Missense 4:9226199-9226199 + SNUH_G16_S1 COSM3683364 c.1474T>A p.S492T Substitution - Missense 4:9226369-9226369 + SNUH_G10_S1 COSM3683347 c.975C>G p.H325Q Substitution - Missense 4:9225870-9225870 + SNUH_G15_S1 COSM3683336 c.276C>A p.N92K Substitution - Missense 4:9225171-9225171 + SNUH_G17_S1 COSM3683353 c.1201A>G p.R401G Substitution - Missense 4:9226096-9226096 + SNUH_G10_S1 COSM3683337 c.378T>G p.C126W Substitution - Missense 4:9225273-9225273 + PD13418a COSM5776829 c.13T>C p.S5P Substitution - Missense 4:9210669-9210669 + CN-AML-CR-28-Dx COSM5425037 c.159T>C p.D53D Substitution - coding silent 4:9210815-9210815 + CN-AML-CR-59-Dx COSM4908654 c.444A>T p.A148A Substitution - coding silent 4:9225339-9225339 + SNUH_G82_S1 COSM3683323 c.2T>G p.M1R Substitution - Missense 4:9210658-9210658 + SNUH_G10_S1 COSM3683356 c.1220A>C p.E407A Substitution - Missense 4:9226115-9226115 + SNUH_G10_S1 COSM3683346 c.929A>C p.Q310P Substitution - Missense 4:9225824-9225824 + SNUH_G17_S1 COSM3683360 c.1437T>C p.H479H Substitution - coding silent 4:9226332-9226332 + SNUH_G16_S1 COSM3683348 c.1016T>C p.V339A Substitution - Missense 4:9225911-9225911 + SNUH_G10_S1 COSM3683342 c.404C>T p.A135V Substitution - Missense 4:9225299-9225299 + SNUH_G16_S1 COSM3683361 c.1443A>G p.E481E Substitution - coding silent 4:9226338-9226338 + SNUH_G17_S1 COSM3683358 c.1297A>C p.T433P Substitution - Missense 4:9226192-9226192 + SNUH_G16_S1 COSM3683344 c.634G>C p.G212R Substitution - Missense 4:9225529-9225529 + SNUH_G16_S1 COSM4003200 c.1290G>C p.Q430H Substitution - Missense 4:9226185-9226185 + SNUH_G16_S1 COSM3683325 c.20A>C p.Y7S Substitution - Missense 4:9210676-9210676 + SNUH_G15_S1 COSM3683341 c.399A>C p.T133T Substitution - coding silent 4:9225294-9225294 + CN-AML-CR-43-Dx COSM4908654 c.444A>T p.A148A Substitution - coding silent 4:9225339-9225339 + SNUH_G26_S1 COSM3683352 c.1171C>A p.P391T Substitution - Missense 4:9226066-9226066 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.741130 4p16.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.S36Y c.107C>A 4 9212489 HC C T Missense p.P480S c.1438C>T 4 9213820 CM