Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 19 56273293 56273293 single base substitution G A missense_variant D43N 127G>A BRCA-EU 19 56265714 56265714 single base substitution G A upstream_gene_variant BRCA-EU 19 56267275 56267275 single base substitution C T upstream_gene_variant BRCA-EU 19 56268001 56268001 single base substitution T C upstream_gene_variant BRCA-EU 19 56269780 56269780 single base substitution C T upstream_gene_variant BRCA-EU 19 56269805 56269805 single base substitution G T upstream_gene_variant BRCA-EU 19 56270095 56270095 single base substitution C G upstream_gene_variant BRCA-EU 19 56270256 56270256 single base substitution C A upstream_gene_variant BRCA-EU 19 56270530 56270530 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 19 56270655 56270655 single base substitution A T intron_variant BRCA-EU 19 56270763 56270763 single base substitution C T intron_variant BRCA-EU 19 56270887 56270887 single base substitution A G intron_variant BRCA-EU 19 56271359 56271359 single base substitution C T intron_variant BRCA-EU 19 56271876 56271876 single base substitution G A intron_variant BRCA-EU 19 56272499 56272499 single base substitution C T intron_variant BRCA-EU 19 56272520 56272520 single base substitution C G intron_variant BRCA-EU 19 56272767 56272767 single base substitution G A intron_variant BRCA-EU 19 56272852 56272852 single base substitution C G intron_variant BRCA-EU 19 56272991 56272991 single base substitution C G intron_variant BRCA-EU 19 56273349 56273349 single base substitution C G missense_variant I61M 183C>G BRCA-EU 19 56273727 56273727 single base substitution C A intron_variant BRCA-EU 19 56273870 56273870 single base substitution A T intron_variant BRCA-EU 19 56274032 56274032 single base substitution C G missense_variant R119G 355C>G BRCA-EU 19 56274404 56274404 single base substitution G A missense_variant E243K 727G>A BRCA-EU 19 56274525 56274525 single base substitution C T missense_variant S283F 848C>T BRCA-EU 19 56274717 56274717 single base substitution A T downstream_gene_variant BRCA-EU 19 56274841 56274841 single base substitution G A downstream_gene_variant BRCA-EU 19 56274849 56274849 single base substitution G A downstream_gene_variant BRCA-EU 19 56274866 56274866 single base substitution G A downstream_gene_variant BRCA-EU 19 56275338 56275338 single base substitution C G downstream_gene_variant BRCA-EU 19 56275377 56275377 single base substitution C T downstream_gene_variant BRCA-EU 19 56275411 56275411 single base substitution C A downstream_gene_variant BRCA-EU 19 56275726 56275726 deletion of <=200bp A - downstream_gene_variant BRCA-EU 19 56275915 56275915 single base substitution C T downstream_gene_variant BRCA-EU 19 56276016 56276016 single base substitution C T downstream_gene_variant BRCA-EU 19 56276522 56276522 single base substitution G A downstream_gene_variant BRCA-EU 19 56277328 56277328 single base substitution C A downstream_gene_variant BRCA-EU 19 56277450 56277450 single base substitution G C downstream_gene_variant BRCA-EU 19 56277640 56277640 single base substitution G T downstream_gene_variant BRCA-EU 19 56277641 56277641 single base substitution G C downstream_gene_variant BRCA-EU 19 56277953 56277953 single base substitution A G downstream_gene_variant BRCA-EU 19 56278415 56278415 single base substitution G C downstream_gene_variant BRCA-EU 19 56278432 56278432 single base substitution C G downstream_gene_variant BRCA-EU 19 56278802 56278802 single base substitution G A downstream_gene_variant BRCA-EU 19 56278965 56278965 single base substitution G C downstream_gene_variant BRCA-EU 19 56278983 56278983 single base substitution G A downstream_gene_variant BRCA-EU 19 56279239 56279239 single base substitution T G downstream_gene_variant BRCA-FR 19 56269805 56269805 single base substitution G T upstream_gene_variant BRCA-FR 19 56272499 56272499 single base substitution C T intron_variant BRCA-KR 19 56274386 56274386 single base substitution C A missense_variant H237N 709C>A BRCA-UK 19 56267612 56267612 single base substitution T G upstream_gene_variant BRCA-UK 19 56268243 56268243 single base substitution T G upstream_gene_variant BRCA-US 19 56274193 56274193 single base substitution G C synonymous_variant V172V 516G>C BRCA-US 19 56274213 56274213 single base substitution T A missense_variant V179E 536T>A BRCA-US 19 56274382 56274382 single base substitution G T synonymous_variant G235G 705G>T BTCA-JP 19 56270555 56270555 single base substitution T C intron_variant BTCA-JP 19 56270556 56270556 single base substitution A T intron_variant CESC-US 19 56273173 56273173 single base substitution G C missense_variant E3Q 7G>C CLLE-ES 19 56272104 56272104 single base substitution A C intron_variant COCA-CN 19 56269239 56269239 single base substitution G T upstream_gene_variant COCA-CN 19 56269892 56269892 single base substitution G T upstream_gene_variant COCA-CN 19 56270325 56270325 single base substitution C T upstream_gene_variant COCA-CN 19 56270496 56270496 single base substitution T G 5_prime_UTR_variant COCA-CN 19 56270556 56270556 single base substitution A T intron_variant COCA-CN 19 56272921 56272921 single base substitution A T intron_variant COCA-CN 19 56273081 56273081 single base substitution G T intron_variant COCA-CN 19 56273155 56273155 single base substitution T C splice_region_variant COCA-CN 19 56273285 56273285 single base substitution A G missense_variant K40R 119A>G COCA-CN 19 56273293 56273293 single base substitution G A missense_variant D43N 127G>A COCA-CN 19 56273868 56273868 single base substitution G A intron_variant COCA-CN 19 56273870 56273870 single base substitution A T intron_variant COCA-CN 19 56273904 56273904 single base substitution A C intron_variant COCA-CN 19 56273944 56273944 single base substitution C G intron_variant COCA-CN 19 56274193 56274193 single base substitution G C synonymous_variant V172V 516G>C COCA-CN 19 56274213 56274213 single base substitution T A missense_variant V179E 536T>A COCA-CN 19 56274424 56274424 single base substitution C A synonymous_variant P249P 747C>A COCA-CN 19 56274453 56274453 single base substitution G A missense_variant G259E 776G>A COCA-CN 19 56274583 56274583 single base substitution T G downstream_gene_variant COCA-CN 19 56274610 56274610 single base substitution C T downstream_gene_variant COCA-CN 19 56279162 56279162 single base substitution A C downstream_gene_variant ESAD-UK 19 56265741 56265741 single base substitution T C upstream_gene_variant ESAD-UK 19 56266092 56266092 single base substitution C A upstream_gene_variant ESAD-UK 19 56266638 56266638 deletion of <=200bp T - upstream_gene_variant ESAD-UK 19 56266702 56266702 single base substitution A G upstream_gene_variant ESAD-UK 19 56267369 56267369 single base substitution G A upstream_gene_variant ESAD-UK 19 56269074 56269074 single base substitution G A upstream_gene_variant ESAD-UK 19 56271460 56271460 single base substitution C T intron_variant ESAD-UK 19 56271720 56271720 single base substitution G A intron_variant ESAD-UK 19 56271844 56271844 single base substitution G A intron_variant ESAD-UK 19 56272003 56272003 single base substitution T C intron_variant ESAD-UK 19 56272164 56272164 single base substitution C G intron_variant ESAD-UK 19 56272587 56272587 single base substitution T A intron_variant ESAD-UK 19 56272838 56272838 single base substitution A G intron_variant ESAD-UK 19 56276848 56276848 single base substitution G T downstream_gene_variant ESAD-UK 19 56277627 56277627 single base substitution A T downstream_gene_variant ESAD-UK 19 56277886 56277886 single base substitution A C downstream_gene_variant ESAD-UK 19 56278870 56278870 single base substitution G A downstream_gene_variant ESCA-CN 19 56274021 56274021 single base substitution T G missense_variant L115R 344T>G ESCA-CN 19 56274391 56274391 single base substitution C G missense_variant I238M 714C>G KIRC-US 19 56273182 56273182 deletion of <=200bp A - frameshift_variant K6 KIRC-US 19 56274095 56274095 single base substitution G A missense_variant V140I 418G>A LAML-KR 19 56268316 56268316 single base substitution G C upstream_gene_variant LAML-KR 19 56268335 56268335 single base substitution C G upstream_gene_variant LAML-KR 19 56270555 56270555 single base substitution T C intron_variant LAML-KR 19 56270556 56270556 single base substitution A T intron_variant LAML-KR 19 56273285 56273285 single base substitution A G missense_variant K40R 119A>G LAML-KR 19 56273504 56273504 single base substitution T A intron_variant LAML-KR 19 56274086 56274086 single base substitution G A missense_variant A137T 409G>A LAML-KR 19 56274193 56274193 single base substitution G C synonymous_variant V172V 516G>C LAML-KR 19 56274213 56274213 single base substitution T A missense_variant V179E 536T>A LAML-KR 19 56274424 56274424 single base substitution C A synonymous_variant P249P 747C>A LAML-KR 19 56274453 56274453 single base substitution G A missense_variant G259E 776G>A LAML-KR 19 56274460 56274460 single base substitution A G synonymous_variant Q261Q 783A>G LICA-FR 19 56267638 56267638 single base substitution T C upstream_gene_variant LICA-FR 19 56269038 56269038 single base substitution C G upstream_gene_variant LICA-FR 19 56270151 56270151 single base substitution G A upstream_gene_variant LICA-FR 19 56270399 56270399 single base substitution G A 5_prime_UTR_variant LICA-FR 19 56270640 56270640 single base substitution G C intron_variant LICA-FR 19 56270641 56270641 single base substitution G T intron_variant LICA-FR 19 56270791 56270791 single base substitution G T intron_variant LICA-FR 19 56272230 56272230 single base substitution T A intron_variant LICA-FR 19 56272299 56272299 single base substitution A G intron_variant LICA-FR 19 56273728 56273728 single base substitution G A intron_variant LICA-FR 19 56274872 56274872 single base substitution G T downstream_gene_variant LICA-FR 19 56279246 56279246 single base substitution T C downstream_gene_variant LICA-FR 19 56279262 56279262 single base substitution A G downstream_gene_variant LIHC-US 19 56274197 56274197 single base substitution C T stop_gained R174* 520C>T LIHC-US 19 56274316 56274316 single base substitution G T missense_variant L213F 639G>T LINC-JP 19 56266986 56266986 single base substitution A G upstream_gene_variant LINC-JP 19 56272709 56272709 single base substitution A G intron_variant LIRI-JP 19 56266572 56266572 single base substitution G A upstream_gene_variant LIRI-JP 19 56267291 56267291 single base substitution C A upstream_gene_variant LIRI-JP 19 56267612 56267612 single base substitution T G upstream_gene_variant LIRI-JP 19 56267764 56267764 single base substitution C G upstream_gene_variant LIRI-JP 19 56268662 56268662 single base substitution C G upstream_gene_variant LIRI-JP 19 56269193 56269193 single base substitution T C upstream_gene_variant LIRI-JP 19 56269469 56269469 single base substitution A G upstream_gene_variant LIRI-JP 19 56269523 56269523 single base substitution A G upstream_gene_variant LIRI-JP 19 56270337 56270337 single base substitution A C upstream_gene_variant LIRI-JP 19 56272622 56272622 single base substitution A T intron_variant LIRI-JP 19 56272838 56272838 single base substitution A G intron_variant LIRI-JP 19 56276238 56276238 single base substitution C T downstream_gene_variant LIRI-JP 19 56276296 56276296 single base substitution C A downstream_gene_variant LIRI-JP 19 56276424 56276424 single base substitution T A downstream_gene_variant LUSC-KR 19 56267152 56267152 single base substitution A C upstream_gene_variant LUSC-KR 19 56267770 56267770 single base substitution C A upstream_gene_variant LUSC-KR 19 56267966 56267966 single base substitution C G upstream_gene_variant LUSC-KR 19 56268819 56268819 single base substitution A T upstream_gene_variant LUSC-KR 19 56269038 56269038 single base substitution C G upstream_gene_variant LUSC-KR 19 56269185 56269185 single base substitution A G upstream_gene_variant LUSC-KR 19 56269365 56269365 single base substitution T C upstream_gene_variant LUSC-KR 19 56270253 56270253 single base substitution G C upstream_gene_variant LUSC-KR 19 56270442 56270442 single base substitution C G 5_prime_UTR_variant LUSC-KR 19 56270641 56270641 single base substitution G T intron_variant LUSC-KR 19 56271354 56271354 single base substitution T A intron_variant LUSC-KR 19 56272587 56272587 single base substitution T A intron_variant LUSC-KR 19 56272779 56272779 single base substitution C A intron_variant LUSC-KR 19 56272919 56272919 single base substitution C A intron_variant LUSC-KR 19 56273443 56273443 single base substitution A G missense_variant K93E 277A>G LUSC-KR 19 56273870 56273870 single base substitution A T intron_variant LUSC-KR 19 56274086 56274086 single base substitution G A missense_variant A137T 409G>A LUSC-KR 19 56274193 56274193 single base substitution G C synonymous_variant V172V 516G>C LUSC-KR 19 56274424 56274424 single base substitution C A synonymous_variant P249P 747C>A LUSC-KR 19 56274506 56274506 single base substitution G A missense_variant A277T 829G>A LUSC-KR 19 56274525 56274525 single base substitution C A missense_variant S283Y 848C>A LUSC-KR 19 56274746 56274746 single base substitution T A downstream_gene_variant LUSC-KR 19 56275291 56275291 single base substitution A G downstream_gene_variant LUSC-KR 19 56276870 56276870 single base substitution T C downstream_gene_variant LUSC-KR 19 56277759 56277759 single base substitution G C downstream_gene_variant LUSC-KR 19 56279093 56279093 single base substitution A G downstream_gene_variant LUSC-KR 19 56279193 56279193 single base substitution C T downstream_gene_variant LUSC-KR 19 56279365 56279365 single base substitution T C downstream_gene_variant LUSC-KR 19 56279497 56279497 single base substitution T C downstream_gene_variant MALY-DE 19 56270701 56270701 single base substitution G T intron_variant MALY-DE 19 56272587 56272587 single base substitution T A intron_variant MALY-DE 19 56278586 56278586 deletion of <=200bp G - downstream_gene_variant MELA-AU 19 56265437 56265437 single base substitution C T upstream_gene_variant MELA-AU 19 56265467 56265467 single base substitution C T upstream_gene_variant MELA-AU 19 56265608 56265608 single base substitution C T upstream_gene_variant MELA-AU 19 56265655 56265655 single base substitution G A upstream_gene_variant MELA-AU 19 56265657 56265657 single base substitution A G upstream_gene_variant MELA-AU 19 56265708 56265708 single base substitution C T upstream_gene_variant MELA-AU 19 56265741 56265741 single base substitution T C upstream_gene_variant MELA-AU 19 56265810 56265810 single base substitution G A upstream_gene_variant MELA-AU 19 56265814 56265814 single base substitution A C upstream_gene_variant MELA-AU 19 56265844 56265844 single base substitution G A upstream_gene_variant MELA-AU 19 56265880 56265880 single base substitution G A upstream_gene_variant MELA-AU 19 56265949 56265949 single base substitution G A upstream_gene_variant MELA-AU 19 56265951 56265951 single base substitution G A upstream_gene_variant MELA-AU 19 56265969 56265969 single base substitution C T upstream_gene_variant MELA-AU 19 56266016 56266016 single base substitution G A upstream_gene_variant MELA-AU 19 56266063 56266063 single base substitution C T upstream_gene_variant MELA-AU 19 56266078 56266078 single base substitution G A upstream_gene_variant MELA-AU 19 56266166 56266166 single base substitution T G upstream_gene_variant MELA-AU 19 56266255 56266255 single base substitution G A upstream_gene_variant MELA-AU 19 56266404 56266404 single base substitution G A upstream_gene_variant MELA-AU 19 56266429 56266429 single base substitution C T upstream_gene_variant MELA-AU 19 56266517 56266517 single base substitution G A upstream_gene_variant MELA-AU 19 56266562 56266562 single base substitution G A upstream_gene_variant MELA-AU 19 56266619 56266619 single base substitution T C upstream_gene_variant MELA-AU 19 56266620 56266620 single base substitution C T upstream_gene_variant MELA-AU 19 56266652 56266652 single base substitution C T upstream_gene_variant MELA-AU 19 56266704 56266704 single base substitution G A upstream_gene_variant MELA-AU 19 56266745 56266745 single base substitution C T upstream_gene_variant MELA-AU 19 56266819 56266819 single base substitution G A upstream_gene_variant MELA-AU 19 56266956 56266956 single base substitution G A upstream_gene_variant MELA-AU 19 56266985 56266985 single base substitution C T upstream_gene_variant MELA-AU 19 56267038 56267038 single base substitution C T upstream_gene_variant MELA-AU 19 56267195 56267195 single base substitution G A upstream_gene_variant MELA-AU 19 56267283 56267283 single base substitution C T upstream_gene_variant MELA-AU 19 56267286 56267286 single base substitution G A upstream_gene_variant MELA-AU 19 56267291 56267291 single base substitution C T upstream_gene_variant MELA-AU 19 56267347 56267347 single base substitution C T upstream_gene_variant MELA-AU 19 56267431 56267431 single base substitution G A upstream_gene_variant MELA-AU 19 56267463 56267463 single base substitution G A upstream_gene_variant MELA-AU 19 56267549 56267549 single base substitution G A upstream_gene_variant MELA-AU 19 56267613 56267613 single base substitution C T upstream_gene_variant MELA-AU 19 56267749 56267749 single base substitution G A upstream_gene_variant MELA-AU 19 56267771 56267771 single base substitution A C upstream_gene_variant MELA-AU 19 56267781 56267781 single base substitution C T upstream_gene_variant MELA-AU 19 56267908 56267908 single base substitution T G upstream_gene_variant MELA-AU 19 56268003 56268003 single base substitution C T upstream_gene_variant MELA-AU 19 56268016 56268016 single base substitution G A upstream_gene_variant MELA-AU 19 56268053 56268053 single base substitution G A upstream_gene_variant MELA-AU 19 56268070 56268070 single base substitution C T upstream_gene_variant MELA-AU 19 56268175 56268175 single base substitution C T upstream_gene_variant MELA-AU 19 56268222 56268222 single base substitution C T upstream_gene_variant MELA-AU 19 56268258 56268258 single base substitution C T upstream_gene_variant MELA-AU 19 56268259 56268259 single base substitution C T upstream_gene_variant MELA-AU 19 56268293 56268293 single base substitution G A upstream_gene_variant MELA-AU 19 56268304 56268304 single base substitution C T upstream_gene_variant MELA-AU 19 56268309 56268309 single base substitution G A upstream_gene_variant MELA-AU 19 56268393 56268393 single base substitution G A upstream_gene_variant MELA-AU 19 56268418 56268418 single base substitution G A upstream_gene_variant MELA-AU 19 56268540 56268540 single base substitution G A upstream_gene_variant MELA-AU 19 56268561 56268561 single base substitution G A upstream_gene_variant MELA-AU 19 56268566 56268566 single base substitution A G upstream_gene_variant MELA-AU 19 56268611 56268611 single base substitution G A upstream_gene_variant MELA-AU 19 56268711 56268711 single base substitution C A upstream_gene_variant MELA-AU 19 56268789 56268789 single base substitution C T upstream_gene_variant MELA-AU 19 56268841 56268841 single base substitution G A upstream_gene_variant MELA-AU 19 56268927 56268927 single base substitution G A upstream_gene_variant MELA-AU 19 56268938 56268938 single base substitution G A upstream_gene_variant MELA-AU 19 56268991 56268991 single base substitution T C upstream_gene_variant MELA-AU 19 56269038 56269038 single base substitution C T upstream_gene_variant MELA-AU 19 56269097 56269097 single base substitution G A upstream_gene_variant MELA-AU 19 56269107 56269107 single base substitution C T upstream_gene_variant MELA-AU 19 56269202 56269202 single base substitution C T upstream_gene_variant MELA-AU 19 56269246 56269246 single base substitution C T upstream_gene_variant MELA-AU 19 56269261 56269261 single base substitution G A upstream_gene_variant MELA-AU 19 56269290 56269290 single base substitution G A upstream_gene_variant MELA-AU 19 56269319 56269319 single base substitution A G upstream_gene_variant MELA-AU 19 56269559 56269559 single base substitution G A upstream_gene_variant MELA-AU 19 56269631 56269631 single base substitution A G upstream_gene_variant MELA-AU 19 56269933 56269934 multiple base substitution (>=2bp and <=200bp) GG AT upstream_gene_variant MELA-AU 19 56269979 56269979 single base substitution C T upstream_gene_variant MELA-AU 19 56270046 56270046 single base substitution C T upstream_gene_variant MELA-AU 19 56270133 56270133 single base substitution G A upstream_gene_variant MELA-AU 19 56270414 56270414 single base substitution G A 5_prime_UTR_variant MELA-AU 19 56270482 56270482 single base substitution C T 5_prime_UTR_variant MELA-AU 19 56270555 56270556 multiple base substitution (>=2bp and <=200bp) TA CT intron_variant MELA-AU 19 56270596 56270596 single base substitution G A intron_variant MELA-AU 19 56270646 56270646 single base substitution G A intron_variant MELA-AU 19 56270666 56270666 single base substitution G A intron_variant MELA-AU 19 56270791 56270791 single base substitution G A intron_variant MELA-AU 19 56270966 56270966 single base substitution G A intron_variant MELA-AU 19 56271003 56271003 single base substitution G A intron_variant MELA-AU 19 56271008 56271008 single base substitution G A intron_variant MELA-AU 19 56271033 56271033 single base substitution C T intron_variant MELA-AU 19 56271038 56271038 single base substitution C T intron_variant MELA-AU 19 56271303 56271303 single base substitution C T intron_variant MELA-AU 19 56271366 56271366 single base substitution G A intron_variant MELA-AU 19 56271508 56271508 single base substitution C T intron_variant MELA-AU 19 56271518 56271518 single base substitution C T intron_variant MELA-AU 19 56271551 56271551 single base substitution C T intron_variant MELA-AU 19 56271585 56271585 single base substitution G A intron_variant MELA-AU 19 56271643 56271643 single base substitution G A intron_variant MELA-AU 19 56271720 56271720 single base substitution G A intron_variant MELA-AU 19 56271738 56271738 single base substitution G A intron_variant MELA-AU 19 56271808 56271808 single base substitution G A intron_variant MELA-AU 19 56271887 56271887 single base substitution C T intron_variant MELA-AU 19 56271915 56271915 single base substitution T A intron_variant MELA-AU 19 56272069 56272069 single base substitution C T intron_variant MELA-AU 19 56272084 56272084 single base substitution G A intron_variant MELA-AU 19 56272088 56272088 single base substitution C T intron_variant MELA-AU 19 56272240 56272240 single base substitution T G intron_variant MELA-AU 19 56272290 56272290 single base substitution C T intron_variant MELA-AU 19 56272308 56272308 single base substitution G A intron_variant MELA-AU 19 56272596 56272596 single base substitution G A intron_variant MELA-AU 19 56272696 56272696 single base substitution G A intron_variant MELA-AU 19 56272720 56272720 single base substitution C T intron_variant MELA-AU 19 56272737 56272737 single base substitution A G intron_variant MELA-AU 19 56272778 56272778 single base substitution C T intron_variant MELA-AU 19 56272930 56272930 single base substitution C T intron_variant MELA-AU 19 56272934 56272934 single base substitution C T intron_variant MELA-AU 19 56273119 56273119 single base substitution C T intron_variant MELA-AU 19 56273129 56273129 single base substitution C T intron_variant MELA-AU 19 56273190 56273190 single base substitution C T synonymous_variant I8I 24C>T MELA-AU 19 56273468 56273468 single base substitution G A intron_variant MELA-AU 19 56273497 56273497 single base substitution G A intron_variant MELA-AU 19 56273521 56273521 single base substitution C T intron_variant MELA-AU 19 56273543 56273543 single base substitution G A intron_variant MELA-AU 19 56273674 56273674 single base substitution C T intron_variant MELA-AU 19 56273689 56273689 single base substitution G A intron_variant MELA-AU 19 56273702 56273702 single base substitution C T intron_variant MELA-AU 19 56273705 56273705 single base substitution C T intron_variant MELA-AU 19 56273739 56273739 single base substitution C T intron_variant MELA-AU 19 56273941 56273941 single base substitution A G intron_variant MELA-AU 19 56274017 56274017 single base substitution G A missense_variant D114N 340G>A MELA-AU 19 56274031 56274031 single base substitution C T synonymous_variant F118F 354C>T MELA-AU 19 56274041 56274041 single base substitution G A missense_variant D122N 364G>A MELA-AU 19 56274166 56274166 single base substitution G A stop_gained W163* 489G>A MELA-AU 19 56274198 56274198 single base substitution G A missense_variant R174Q 521G>A MELA-AU 19 56274321 56274321 single base substitution G A missense_variant R215K 644G>A MELA-AU 19 56274328 56274328 single base substitution G A synonymous_variant G217G 651G>A MELA-AU 19 56274334 56274334 single base substitution C T synonymous_variant F219F 657C>T MELA-AU 19 56274361 56274361 single base substitution C T synonymous_variant A228A 684C>T MELA-AU 19 56274489 56274489 single base substitution C T missense_variant S271F 812C>T MELA-AU 19 56274741 56274741 single base substitution G A downstream_gene_variant MELA-AU 19 56274777 56274777 single base substitution G A downstream_gene_variant MELA-AU 19 56274853 56274853 single base substitution G A downstream_gene_variant MELA-AU 19 56275697 56275697 single base substitution C T downstream_gene_variant MELA-AU 19 56275725 56275725 single base substitution G A downstream_gene_variant MELA-AU 19 56275792 56275792 single base substitution G A downstream_gene_variant MELA-AU 19 56275796 56275796 single base substitution G A downstream_gene_variant MELA-AU 19 56275811 56275811 single base substitution G A downstream_gene_variant MELA-AU 19 56275824 56275824 single base substitution C T downstream_gene_variant MELA-AU 19 56275826 56275826 single base substitution C T downstream_gene_variant MELA-AU 19 56276282 56276282 single base substitution G A downstream_gene_variant MELA-AU 19 56276309 56276309 single base substitution T A downstream_gene_variant MELA-AU 19 56276317 56276317 single base substitution G A downstream_gene_variant MELA-AU 19 56276412 56276412 single base substitution C T downstream_gene_variant MELA-AU 19 56276433 56276433 single base substitution C T downstream_gene_variant MELA-AU 19 56276507 56276507 single base substitution C T downstream_gene_variant MELA-AU 19 56276546 56276546 single base substitution C T downstream_gene_variant MELA-AU 19 56276572 56276572 single base substitution C T downstream_gene_variant MELA-AU 19 56276625 56276625 single base substitution G A downstream_gene_variant MELA-AU 19 56276704 56276704 single base substitution T G downstream_gene_variant MELA-AU 19 56276808 56276808 single base substitution G A downstream_gene_variant MELA-AU 19 56276813 56276813 single base substitution A T downstream_gene_variant MELA-AU 19 56276851 56276851 single base substitution C T downstream_gene_variant MELA-AU 19 56276959 56276959 single base substitution T G downstream_gene_variant MELA-AU 19 56276977 56276977 single base substitution C T downstream_gene_variant MELA-AU 19 56277012 56277012 single base substitution C T downstream_gene_variant MELA-AU 19 56277019 56277019 single base substitution T G downstream_gene_variant MELA-AU 19 56277071 56277071 single base substitution T A downstream_gene_variant MELA-AU 19 56277158 56277158 single base substitution G A downstream_gene_variant MELA-AU 19 56277174 56277174 single base substitution G A downstream_gene_variant MELA-AU 19 56277228 56277228 single base substitution C T downstream_gene_variant MELA-AU 19 56277229 56277229 single base substitution G A downstream_gene_variant MELA-AU 19 56277234 56277234 single base substitution C T downstream_gene_variant MELA-AU 19 56277412 56277412 single base substitution C T downstream_gene_variant MELA-AU 19 56277423 56277423 single base substitution C T downstream_gene_variant MELA-AU 19 56277456 56277456 single base substitution C T downstream_gene_variant MELA-AU 19 56277492 56277492 single base substitution C T downstream_gene_variant MELA-AU 19 56277689 56277689 single base substitution C T downstream_gene_variant MELA-AU 19 56277709 56277709 single base substitution C T downstream_gene_variant MELA-AU 19 56277960 56277960 single base substitution G A downstream_gene_variant MELA-AU 19 56278068 56278068 single base substitution C T downstream_gene_variant MELA-AU 19 56278076 56278076 single base substitution C T downstream_gene_variant MELA-AU 19 56278141 56278141 single base substitution A G downstream_gene_variant MELA-AU 19 56278185 56278185 single base substitution G A downstream_gene_variant MELA-AU 19 56278197 56278197 single base substitution G A downstream_gene_variant MELA-AU 19 56278286 56278286 single base substitution G A downstream_gene_variant MELA-AU 19 56278302 56278302 single base substitution C T downstream_gene_variant MELA-AU 19 56278367 56278367 single base substitution G A downstream_gene_variant MELA-AU 19 56278430 56278430 single base substitution T A downstream_gene_variant MELA-AU 19 56278432 56278432 single base substitution C T downstream_gene_variant MELA-AU 19 56278459 56278459 single base substitution C T downstream_gene_variant MELA-AU 19 56278490 56278490 single base substitution G A downstream_gene_variant MELA-AU 19 56278504 56278504 single base substitution G A downstream_gene_variant MELA-AU 19 56278556 56278556 single base substitution G A downstream_gene_variant MELA-AU 19 56278597 56278597 single base substitution G A downstream_gene_variant MELA-AU 19 56278788 56278788 single base substitution G A downstream_gene_variant MELA-AU 19 56278869 56278869 single base substitution C T downstream_gene_variant MELA-AU 19 56278877 56278877 single base substitution G A downstream_gene_variant MELA-AU 19 56278969 56278969 single base substitution G A downstream_gene_variant MELA-AU 19 56278998 56278998 single base substitution G A downstream_gene_variant MELA-AU 19 56279013 56279013 single base substitution G A downstream_gene_variant MELA-AU 19 56279127 56279127 single base substitution G A downstream_gene_variant MELA-AU 19 56279193 56279193 single base substitution C T downstream_gene_variant MELA-AU 19 56279202 56279203 multiple base substitution (>=2bp and <=200bp) CC AA downstream_gene_variant ORCA-IN 19 56268966 56268966 single base substitution T C upstream_gene_variant ORCA-IN 19 56272587 56272587 single base substitution T A intron_variant OV-AU 19 56265678 56265678 single base substitution A G upstream_gene_variant OV-AU 19 56269142 56269142 single base substitution C T upstream_gene_variant OV-AU 19 56270990 56270990 single base substitution C A intron_variant OV-AU 19 56277169 56277169 single base substitution C A downstream_gene_variant OV-AU 19 56277586 56277586 single base substitution A G downstream_gene_variant PACA-AU 19 56271612 56271612 single base substitution T G intron_variant PACA-AU 19 56271915 56271915 deletion of <=200bp T - intron_variant PACA-AU 19 56272804 56272804 single base substitution G A intron_variant PACA-AU 19 56274806 56274806 single base substitution C G downstream_gene_variant PACA-AU 19 56276343 56276343 single base substitution A G downstream_gene_variant PACA-CA 19 56266243 56266243 single base substitution C A upstream_gene_variant PACA-CA 19 56266702 56266702 single base substitution A G upstream_gene_variant PACA-CA 19 56267726 56267726 single base substitution C T upstream_gene_variant PACA-CA 19 56267799 56267799 single base substitution C T upstream_gene_variant PACA-CA 19 56268171 56268171 single base substitution C T upstream_gene_variant PACA-CA 19 56269093 56269093 single base substitution G A upstream_gene_variant PACA-CA 19 56271001 56271001 single base substitution C T intron_variant PACA-CA 19 56272587 56272587 single base substitution T A intron_variant PACA-CA 19 56274143 56274143 single base substitution G A missense_variant D156N 466G>A PACA-CA 19 56275338 56275338 single base substitution C T downstream_gene_variant PACA-CA 19 56276780 56276780 single base substitution A C downstream_gene_variant PACA-CA 19 56276831 56276831 single base substitution A G downstream_gene_variant PACA-CA 19 56277521 56277521 single base substitution T G downstream_gene_variant PACA-CA 19 56277772 56277772 single base substitution T G downstream_gene_variant PACA-CA 19 56279271 56279271 single base substitution A C downstream_gene_variant PAEN-AU 19 56269973 56269973 single base substitution G A upstream_gene_variant PAEN-IT 19 56273462 56273462 single base substitution C A intron_variant PBCA-DE 19 56266890 56266890 single base substitution C T upstream_gene_variant PBCA-DE 19 56267098 56267098 single base substitution T C upstream_gene_variant PBCA-DE 19 56273494 56273494 single base substitution T C intron_variant PRAD-CA 19 56268048 56268048 single base substitution C T upstream_gene_variant PRAD-CA 19 56268136 56268136 single base substitution A G upstream_gene_variant PRAD-CA 19 56272921 56272921 single base substitution A T intron_variant PRAD-CA 19 56272934 56272934 single base substitution C T intron_variant PRAD-CA 19 56276944 56276944 single base substitution C G downstream_gene_variant PRAD-CA 19 56278046 56278046 single base substitution T C downstream_gene_variant PRAD-CA 19 56278058 56278058 single base substitution G A downstream_gene_variant PRAD-UK 19 56267995 56267995 single base substitution T A upstream_gene_variant PRAD-UK 19 56271625 56271625 single base substitution G A intron_variant PRAD-UK 19 56273278 56273278 single base substitution C G missense_variant L38V 112C>G RECA-EU 19 56276373 56276373 single base substitution C A downstream_gene_variant RECA-EU 19 56278223 56278223 single base substitution G T downstream_gene_variant SKCA-BR 19 56265558 56265558 single base substitution G A upstream_gene_variant SKCA-BR 19 56265742 56265742 single base substitution C T upstream_gene_variant SKCA-BR 19 56266008 56266008 single base substitution G A upstream_gene_variant SKCA-BR 19 56266203 56266203 single base substitution G A upstream_gene_variant SKCA-BR 19 56267495 56267495 single base substitution G A upstream_gene_variant SKCA-BR 19 56267711 56267711 single base substitution C T upstream_gene_variant SKCA-BR 19 56267996 56267996 single base substitution C T upstream_gene_variant SKCA-BR 19 56268102 56268102 single base substitution G A upstream_gene_variant SKCA-BR 19 56269239 56269239 single base substitution G T upstream_gene_variant SKCA-BR 19 56270088 56270088 single base substitution G C upstream_gene_variant SKCA-BR 19 56270150 56270150 single base substitution C T upstream_gene_variant SKCA-BR 19 56270196 56270196 single base substitution C T upstream_gene_variant SKCA-BR 19 56270536 56270536 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 19 56270555 56270555 single base substitution T C intron_variant SKCA-BR 19 56270556 56270556 single base substitution A T intron_variant SKCA-BR 19 56270595 56270595 single base substitution G A intron_variant SKCA-BR 19 56271110 56271110 single base substitution A C intron_variant SKCA-BR 19 56271409 56271409 single base substitution C T intron_variant SKCA-BR 19 56271460 56271460 single base substitution C T intron_variant SKCA-BR 19 56271683 56271683 single base substitution C T intron_variant SKCA-BR 19 56271879 56271879 single base substitution G A intron_variant SKCA-BR 19 56271887 56271887 single base substitution C T intron_variant SKCA-BR 19 56272130 56272130 single base substitution A C intron_variant SKCA-BR 19 56272696 56272696 single base substitution G A intron_variant SKCA-BR 19 56272921 56272921 single base substitution A T intron_variant SKCA-BR 19 56272935 56272935 single base substitution G A intron_variant SKCA-BR 19 56273143 56273143 insertion of <=200bp - AT intron_variant SKCA-BR 19 56273349 56273349 single base substitution C T synonymous_variant I61I 183C>T SKCA-BR 19 56273382 56273382 single base substitution C T synonymous_variant S72S 216C>T SKCA-BR 19 56273442 56273442 single base substitution G A synonymous_variant R92R 276G>A SKCA-BR 19 56273469 56273469 single base substitution A C intron_variant SKCA-BR 19 56273497 56273497 single base substitution G A intron_variant SKCA-BR 19 56273727 56273727 single base substitution C T intron_variant SKCA-BR 19 56273736 56273736 single base substitution T A intron_variant SKCA-BR 19 56273739 56273739 single base substitution C T intron_variant SKCA-BR 19 56273906 56273906 single base substitution G A intron_variant SKCA-BR 19 56274104 56274104 single base substitution A C missense_variant T143P 427A>C SKCA-BR 19 56274450 56274450 single base substitution G A missense_variant R258H 773G>A SKCA-BR 19 56274570 56274570 single base substitution G A downstream_gene_variant SKCA-BR 19 56275317 56275317 single base substitution C T downstream_gene_variant SKCA-BR 19 56276083 56276083 single base substitution A G downstream_gene_variant SKCA-BR 19 56276546 56276546 single base substitution C T downstream_gene_variant SKCA-BR 19 56276909 56276909 single base substitution C T downstream_gene_variant SKCA-BR 19 56277097 56277097 single base substitution G A downstream_gene_variant SKCA-BR 19 56277591 56277591 single base substitution C T downstream_gene_variant SKCA-BR 19 56278100 56278100 single base substitution G A downstream_gene_variant SKCA-BR 19 56278177 56278177 single base substitution T C downstream_gene_variant SKCA-BR 19 56278391 56278391 single base substitution G A downstream_gene_variant SKCA-BR 19 56278586 56278586 single base substitution G A downstream_gene_variant SKCA-BR 19 56279162 56279162 single base substitution A C downstream_gene_variant SKCA-BR 19 56279193 56279193 single base substitution C T downstream_gene_variant SKCA-BR 19 56279246 56279246 single base substitution T C downstream_gene_variant SKCA-BR 19 56279305 56279305 single base substitution G A downstream_gene_variant SKCA-BR 19 56279373 56279373 single base substitution G A downstream_gene_variant THCA-SA 19 56273285 56273285 single base substitution A G missense_variant K40R 119A>G UCEC-US 19 56274033 56274033 single base substitution G A missense_variant R119Q 356G>A UCEC-US 19 56274265 56274265 single base substitution C A synonymous_variant V196V 588C>A UCEC-US 19 56274406 56274406 single base substitution G A synonymous_variant E243E 729G>A UCEC-US 19 56274480 56274480 single base substitution G A missense_variant S268N 803G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T98G COSM148753 c.127G>A p.D43N Substitution - Missense 19:55761927-55761927 + TCGA-B5-A0JY-01 COSM1001652 c.588C>A p.V196V Substitution - coding silent 19:55762899-55762899 + WSU-HN6 COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + sysucc-1510T COSM148753 c.127G>A p.D43N Substitution - Missense 19:55761927-55761927 + PTC-7C COSM148753 c.127G>A p.D43N Substitution - Missense 19:55761927-55761927 + TCGA-GM-A3NY-01 COSM3835854 c.536T>A p.V179E Substitution - Missense 19:55762847-55762847 + CN-AML-08-T COSM4000969 c.516C>G p.V172V Substitution - coding silent 19:55772831-55772831 + PD11358a COSM5786259 c.848C>T p.S283F Substitution - Missense 19:55763159-55763159 + 680 COSM145047 c.830C>G p.T277S Substitution - Missense 19:55773145-55773145 + UM-SCC-47 COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + SNUH_G10_S1 COSM4000967 c.747C>A p.P249P Substitution - coding silent 19:55763058-55763058 + RMS85_ COSM4132643 c.119A>G p.K40R Substitution - Missense 19:55771923-55771923 + SCC-15 COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + SNUH_G10_S1 COSM4000972 c.776G>C p.G259A Substitution - Missense 19:55773091-55773091 + CPCG0006-F1 COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + CN-AML-CR-48-Dx COSM3766448 c.516G>C p.V172V Substitution - coding silent 19:55762827-55762827 + sysucc-1838T COSM3766448 c.516G>C p.V172V Substitution - coding silent 19:55762827-55762827 + TCGA-DD-A73G-01 COSM4941226 c.639G>T p.L213F Substitution - Missense 19:55762950-55762950 + sysucc-1397T COSM148753 c.127G>A p.D43N Substitution - Missense 19:55761927-55761927 + sysucc-1507T COSM4000969 c.516C>G p.V172V Substitution - coding silent 19:55772831-55772831 + PTC-88C COSM4132640 c.409G>A p.A137T Substitution - Missense 19:55762720-55762720 + TCGA-G3-A25U-01 COSM4910922 c.520C>T p.R174* Substitution - Nonsense 19:55762831-55762831 + GC8_T COSM148753 c.127G>A p.D43N Substitution - Missense 19:55761927-55761927 + SNUH_G45_S1 COSM3835854 c.536T>A p.V179E Substitution - Missense 19:55762847-55762847 + MO_1336 COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + PTC-70C COSM4132644 c.127G>A p.D43N Substitution - Missense 19:55771931-55771931 + RMS106_ COSM4132643 c.119A>G p.K40R Substitution - Missense 19:55771923-55771923 + SNUH_G10_S1 COSM4000970 c.747C>A p.P249P Substitution - coding silent 19:55773062-55773062 + CN-AML-CR-56-Dx COSM148755 c.409G>A p.A137T Substitution - Missense 19:55772724-55772724 + CN-AML-NR-08-Dx COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + SNUH_G46_S1 COSM4000968 c.830C>G p.A277G Substitution - Missense 19:55763141-55763141 + sysucc-731T COSM4000974 c.848C>A p.S283Y Substitution - Missense 19:55773163-55773163 + WSU-HN12 COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + ORL-48 COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + MO_1336 COSM148753 c.127G>A p.D43N Substitution - Missense 19:55761927-55761927 + PD4252a COSM5798684 c.727G>A p.E243K Substitution - Missense 19:55763038-55763038 + UM-SCC-2 COSM148753 c.127G>A p.D43N Substitution - Missense 19:55761927-55761927 + WSU-HN8 COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + sysucc-1510T COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + ESCC_161 COSM2969472 c.740G>C p.C247S Substitution - Missense 19:55773055-55773055 + GC8_T COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + TCGA-C5-A1BQ-01 COSM4000975 c.854A>G p.E285G Substitution - Missense 19:55773169-55773169 + UM-SCC-2 COSM4132640 c.409G>A p.A137T Substitution - Missense 19:55762720-55762720 + TCGA-B5-A0JY-01 COSM1001662 c.588C>A p.V196V Substitution - coding silent 19:55772903-55772903 + CAL33 COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + SNUH_G10_S1 COSM145047 c.830C>G p.T277S Substitution - Missense 19:55773145-55773145 + WSU-HN30 COSM148753 c.127G>A p.D43N Substitution - Missense 19:55761927-55761927 + PTC-10C COSM4132643 c.119A>G p.K40R Substitution - Missense 19:55771923-55771923 + SNUH_G10_S1 COSM4000973 c.826T>G p.S276A Substitution - Missense 19:55773141-55773141 + 2293749 COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + PD4267a COSM5774555 c.84T>C p.Y28Y Substitution - coding silent 19:55771888-55771888 + PTC-46C COSM148755 c.409G>A p.A137T Substitution - Missense 19:55772724-55772724 + PT49 COSM5936526 c.521G>A p.R174Q Substitution - Missense 19:55762832-55762832 + sysucc-1577T COSM3766448 c.516G>C p.V172V Substitution - coding silent 19:55762827-55762827 + PT38 COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + CN-AML-CR-45-Dx COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + B109-Tumor COSM148753 c.127G>A p.D43N Substitution - Missense 19:55761927-55761927 + sysucc-731T COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + CN-AML-CR-8-Dx COSM4000967 c.747C>A p.P249P Substitution - coding silent 19:55763058-55763058 + SCC-9 COSM4597506 c.848C>A p.S283Y Substitution - Missense 19:55763159-55763159 + 2521262 COSM5892394 c.52C>T p.L18F Substitution - Missense 19:55761852-55761852 + sysucc-1240T COSM5765424 c.536A>T p.E179V Substitution - Missense 19:55772851-55772851 + RMS105_ COSM4132643 c.119A>G p.K40R Substitution - Missense 19:55771923-55771923 + RMS10_ COSM4132643 c.119A>G p.K40R Substitution - Missense 19:55771923-55771923 + SNUH_G45_S1 COSM4000973 c.826T>G p.S276A Substitution - Missense 19:55773141-55773141 + CN-AML-NR-08-Dx COSM4000969 c.516C>G p.V172V Substitution - coding silent 19:55772831-55772831 + UM-SCC-47 COSM148753 c.127G>A p.D43N Substitution - Missense 19:55761927-55761927 + CAL33 COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + SNUH_G76_S1 COSM4000967 c.747C>A p.P249P Substitution - coding silent 19:55763058-55763058 + PTC-54C COSM4132645 c.715A>T p.N239Y Substitution - Missense 19:55773030-55773030 + ESCC_BICR_040T COSM5430000 c.714C>G p.I238M Substitution - Missense 19:55763025-55763025 + CAL27 COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + UM-SCC-11B COSM3835854 c.536T>A p.V179E Substitution - Missense 19:55762847-55762847 + T20 COSM5618063 c.418G>A p.V140I Substitution - Missense 19:55772733-55772733 + UPCI:SCC090 COSM4132640 c.409G>A p.A137T Substitution - Missense 19:55762720-55762720 + BICR_22 COSM4132640 c.409G>A p.A137T Substitution - Missense 19:55762720-55762720 + Detroit_562 COSM3835854 c.536T>A p.V179E Substitution - Missense 19:55762847-55762847 + RMS105_ COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + RMS109_ COSM4132643 c.119A>G p.K40R Substitution - Missense 19:55771923-55771923 + ccRCC-82 COSM1663898 c.740G>C p.C247S Substitution - Missense 19:55763051-55763051 + Detroit_562 COSM145047 c.830C>G p.T277S Substitution - Missense 19:55773145-55773145 + ML_77_T_01 COSM4000969 c.516C>G p.V172V Substitution - coding silent 19:55772831-55772831 + SNUH_G76_S1 COSM4000969 c.516C>G p.V172V Substitution - coding silent 19:55772831-55772831 + UM-SCC-47 COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + SCMC_RM2_ COSM4132643 c.119A>G p.K40R Substitution - Missense 19:55771923-55771923 + UM-SCC-17B COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + TCGA-B5-A0JV-01 COSM1001654 c.685T>G p.F229V Substitution - Missense 19:55762996-55762996 + sysucc-1640T COSM5765424 c.536A>T p.E179V Substitution - Missense 19:55772851-55772851 + UM-SCC-2 COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + CN-AML-08-T COSM3835854 c.536T>A p.V179E Substitution - Missense 19:55762847-55762847 + KPOPBR-03-T COSM5965711 c.709C>A p.H237N Substitution - Missense 19:55763020-55763020 + SNUH_G10_S1 COSM4000969 c.516C>G p.V172V Substitution - coding silent 19:55772831-55772831 + TCGA-AX-A0J0-01 COSM1001661 c.417C>T p.C139C Substitution - coding silent 19:55772732-55772732 + TCGA-C5-A1BQ-01 COSM4000973 c.826T>G p.S276A Substitution - Missense 19:55773141-55773141 + AOCS-141-3-2 COSM4000974 c.848C>A p.S283Y Substitution - Missense 19:55773163-55773163 + UM-SCC-17B COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + TCGA-BS-A0UF-01 COSM1001659 c.132G>T p.G44G Substitution - coding silent 19:55771936-55771936 + 345973 COSM3726727 c.315C>T p.A105A Substitution - coding silent 19:55762626-55762626 + SCMC_RM2_ COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + PD11750a COSM5786578 c.355C>G p.R119G Substitution - Missense 19:55762666-55762666 + PTC-77C COSM148755 c.409G>A p.A137T Substitution - Missense 19:55772724-55772724 + CN-AML-CR-50-Dx COSM4000975 c.854A>G p.E285G Substitution - Missense 19:55773169-55773169 + sysucc-731T COSM4000973 c.826T>G p.S276A Substitution - Missense 19:55773141-55773141 + CSCC-27-T COSM2969385 c.300C>T p.F100F Substitution - coding silent 19:55762611-55762611 + GC8_T COSM148755 c.409G>A p.A137T Substitution - Missense 19:55772724-55772724 + U343 COSM148753 c.127G>A p.D43N Substitution - Missense 19:55761927-55761927 + PT54 COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + PTC-50C COSM3835854 c.536T>A p.V179E Substitution - Missense 19:55762847-55762847 + SNUH_G45_S1 COSM4000971 c.776G>A p.G259E Substitution - Missense 19:55773091-55773091 + Detroit_562 COSM4000974 c.848C>A p.S283Y Substitution - Missense 19:55773163-55773163 + sysucc-1878T COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + AML_14y_08_DX COSM4000967 c.747C>A p.P249P Substitution - coding silent 19:55763058-55763058 + Detroit_562 COSM4000975 c.854A>G p.E285G Substitution - Missense 19:55773169-55773169 + CN-AML-CR-17-Dx COSM4132640 c.409G>A p.A137T Substitution - Missense 19:55762720-55762720 + 93VU147T COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + ESCC_133 COSM5424513 c.783A>G p.Q261Q Substitution - coding silent 19:55763094-55763094 + TCGA-AO-A12B-01 COSM440383 c.705G>T p.G235G Substitution - coding silent 19:55763016-55763016 + S00830 COSM5660262 c.697A>T p.S233C Substitution - Missense 19:55763008-55763008 + WSU-HN8 COSM148753 c.127G>A p.D43N Substitution - Missense 19:55761927-55761927 + CHC322T COSM3766448 c.516G>C p.V172V Substitution - coding silent 19:55762827-55762827 + sysucc-627T COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + WSU-HN30 COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + CN-AML-CR-49-Dx COSM4000974 c.848C>A p.S283Y Substitution - Missense 19:55773163-55773163 + NOKSI COSM2969386 c.301G>A p.D101N Substitution - Missense 19:55762612-55762612 + 0076_CRUK_PC_0076_T1_DNA COSM5422729 c.498C>T p.G166G Substitution - coding silent 19:55772813-55772813 + PD24202a COSM5774291 c.287-10C>A p.? Unknown 19:55772592-55772592 + PD4875a COSM5795870 c.39C>G p.V13V Substitution - coding silent 19:55771843-55771843 + pfg060T COSM4755797 c.107A>G p.N36S Substitution - Missense 19:55761907-55761907 + S02322 COSM5691334 c.327C>T p.L109L Substitution - coding silent 19:55762638-55762638 + ITNET_0100_T COSM4963663 c.286+10C>A p.? Unknown 19:55762096-55762096 + HCC017T COSM5815215 c.618T>A p.P206P Substitution - coding silent 19:55772933-55772933 + NOKSI COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + S02244 COSM2969414 c.726C>T p.I242I Substitution - coding silent 19:55763037-55763037 + WSU-HN13 COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + sysucc-1173T COSM4132643 c.119A>G p.K40R Substitution - Missense 19:55771923-55771923 + WSU-HN30 COSM4287810 c.383A>G p.K128R Substitution - Missense 19:55762694-55762694 + PD4875a COSM5785008 c.183C>G p.I61M Substitution - Missense 19:55771987-55771987 + CHC322T COSM148755 c.409G>A p.A137T Substitution - Missense 19:55772724-55772724 + CN-AML-CR-49-Dx COSM145047 c.830C>G p.T277S Substitution - Missense 19:55773145-55773145 + PTC-77C COSM4132640 c.409G>A p.A137T Substitution - Missense 19:55762720-55762720 + PTC-53C COSM4132641 c.829G>A p.A277T Substitution - Missense 19:55763140-55763140 + TCGA-B5-A0JY-01 COSM1001656 c.729G>A p.E243E Substitution - coding silent 19:55763040-55763040 + CN-AML-08-T COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + SCC-9 COSM3835854 c.536T>A p.V179E Substitution - Missense 19:55762847-55762847 + WSU-HN6 COSM4132640 c.409G>A p.A137T Substitution - Missense 19:55762720-55762720 + sysucc-731T COSM4000967 c.747C>A p.P249P Substitution - coding silent 19:55763058-55763058 + CN-AML-CR-49-Dx COSM4000973 c.826T>G p.S276A Substitution - Missense 19:55773141-55773141 + AOCS-090-1-0 COSM4127915 c.355C>T p.R119* Substitution - Nonsense 19:55772670-55772670 + UD-SCC-2 COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + UM-SCC-4 COSM4597506 c.848C>A p.S283Y Substitution - Missense 19:55763159-55763159 + sysucc-823T COSM3835854 c.536T>A p.V179E Substitution - Missense 19:55762847-55762847 + PTC-53C COSM4000967 c.747C>A p.P249P Substitution - coding silent 19:55763058-55763058 + sysucc-1925T COSM4132643 c.119A>G p.K40R Substitution - Missense 19:55771923-55771923 + UM-SCC-4 COSM3835854 c.536T>A p.V179E Substitution - Missense 19:55762847-55762847 + TCGA-B5-A0JY-01 COSM1001660 c.301G>A p.D101N Substitution - Missense 19:55772616-55772616 + sysucc-810T COSM148753 c.127G>A p.D43N Substitution - Missense 19:55761927-55761927 + SNUH_G45_S1 COSM4000967 c.747C>A p.P249P Substitution - coding silent 19:55763058-55763058 + Detroit_562 COSM4000971 c.776G>A p.G259E Substitution - Missense 19:55773091-55773091 + LN229 COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + sysucc-1370T COSM5471119 c.205G>T p.A69S Substitution - Missense 19:55772009-55772009 + RMS85_ COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + ME050T COSM230800 c.668G>A p.G223D Substitution - Missense 19:55762979-55762979 + PCSI_0609_Pa_P_526 COSM2969402 c.466G>A p.D156N Substitution - Missense 19:55762777-55762777 + CN-AML-NR-08-Dx COSM3835854 c.536T>A p.V179E Substitution - Missense 19:55762847-55762847 + WSU-HN30 COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + CN-AML-CR-49-Dx COSM4000975 c.854A>G p.E285G Substitution - Missense 19:55773169-55773169 + 115 COSM5013522 c.759T>A p.F253L Substitution - Missense 19:55763070-55763070 + sysucc-834T COSM4132643 c.119A>G p.K40R Substitution - Missense 19:55771923-55771923 + SCC-15 COSM3835854 c.536T>A p.V179E Substitution - Missense 19:55762847-55762847 + SCC-9 COSM4132642 c.854A>G p.E285G Substitution - Missense 19:55763165-55763165 + PTC-1C COSM4132640 c.409G>A p.A137T Substitution - Missense 19:55762720-55762720 + PTC-28C COSM3835854 c.536T>A p.V179E Substitution - Missense 19:55762847-55762847 + PTC-6C COSM4132642 c.854A>G p.E285G Substitution - Missense 19:55763165-55763165 + CN-AML-NR-08-Dx COSM3766448 c.516G>C p.V172V Substitution - coding silent 19:55762827-55762827 + SNUH_G45_S1 COSM145047 c.830C>G p.T277S Substitution - Missense 19:55773145-55773145 + CHC433T COSM148755 c.409G>A p.A137T Substitution - Missense 19:55772724-55772724 + WSU-HN8 COSM4132640 c.409G>A p.A137T Substitution - Missense 19:55762720-55762720 + CN-AML-08-T COSM4000967 c.747C>A p.P249P Substitution - coding silent 19:55763058-55763058 + UM-SCC-17B COSM4132640 c.409G>A p.A137T Substitution - Missense 19:55762720-55762720 + SCC-25 COSM4132640 c.409G>A p.A137T Substitution - Missense 19:55762720-55762720 + RMS111_ COSM4132643 c.119A>G p.K40R Substitution - Missense 19:55771923-55771923 + CN-AML-CR-27-Dx COSM5424513 c.783A>G p.Q261Q Substitution - coding silent 19:55763094-55763094 + CN-AML-08-T COSM4000970 c.747C>A p.P249P Substitution - coding silent 19:55773062-55773062 + Detroit_562 COSM3766448 c.516G>C p.V172V Substitution - coding silent 19:55762827-55762827 + SNUH_G10_S1 COSM3835854 c.536T>A p.V179E Substitution - Missense 19:55762847-55762847 + CN-AML-CR-14-Dx COSM4000974 c.848C>A p.S283Y Substitution - Missense 19:55773163-55773163 + sysucc-627T COSM3766448 c.516G>C p.V172V Substitution - coding silent 19:55762827-55762827 + sysucc-325T COSM3766448 c.516G>C p.V172V Substitution - coding silent 19:55762827-55762827 + ML_28_T_01 COSM5037793 c.773G>A p.R258H Substitution - Missense 19:55773088-55773088 + RMS109_ COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + TCGA-BS-A0UF-01 COSM1001658 c.803G>A p.S268N Substitution - Missense 19:55763114-55763114 + UM-SCC-17B COSM148753 c.127G>A p.D43N Substitution - Missense 19:55761927-55761927 + RMS111_ COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + TCGA-C5-A1BQ-01 COSM4000974 c.848C>A p.S283Y Substitution - Missense 19:55773163-55773163 + RMS106_ COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + GC5_T COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + NOKSI COSM3835854 c.536T>A p.V179E Substitution - Missense 19:55762847-55762847 + 93VU147T COSM3835854 c.536T>A p.V179E Substitution - Missense 19:55762847-55762847 + Detroit_562 COSM4000970 c.747C>A p.P249P Substitution - coding silent 19:55773062-55773062 + WSU-HN6 COSM148753 c.127G>A p.D43N Substitution - Missense 19:55761927-55761927 + SNUH_G45_S1 COSM4000975 c.854A>G p.E285G Substitution - Missense 19:55773169-55773169 + CAL33 COSM3835854 c.536T>A p.V179E Substitution - Missense 19:55762847-55762847 + PTC-1C COSM3766448 c.516G>C p.V172V Substitution - coding silent 19:55762827-55762827 + PCA17-1 COSM5415558 c.550C>T p.H184Y Substitution - Missense 19:55772865-55772865 + RMS10_ COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + RMS80_ COSM4132643 c.119A>G p.K40R Substitution - Missense 19:55771923-55771923 + UD-SCC-2 COSM4132640 c.409G>A p.A137T Substitution - Missense 19:55762720-55762720 + J80_T COSM2969440 c.286G>T p.V96L Substitution - Missense 19:55772090-55772090 + RMS80_ COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + Detroit_562 COSM4000973 c.826T>G p.S276A Substitution - Missense 19:55773141-55773141 + UM-SCC-11B COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + CAL27 COSM3835854 c.536T>A p.V179E Substitution - Missense 19:55762847-55762847 + CN-AML-NR-08-Dx COSM4000967 c.747C>A p.P249P Substitution - coding silent 19:55763058-55763058 + PTC-70C COSM4132643 c.119A>G p.K40R Substitution - Missense 19:55771923-55771923 + SNUH_G10_S1 COSM4000974 c.848C>A p.S283Y Substitution - Missense 19:55773163-55773163 + PTC_358 COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + sysucc-731T COSM4000975 c.854A>G p.E285G Substitution - Missense 19:55773169-55773169 + sysucc-823T COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + PD4875a COSM5785057 c.183C>G p.I61M Substitution - Missense 19:55761983-55761983 + RMS88_ COSM4132643 c.119A>G p.K40R Substitution - Missense 19:55771923-55771923 + PT49 COSM5936525 c.508G>A p.E170K Substitution - Missense 19:55762819-55762819 + CAL27 COSM4132640 c.409G>A p.A137T Substitution - Missense 19:55762720-55762720 + BHY COSM148753 c.127G>A p.D43N Substitution - Missense 19:55761927-55761927 + 2521243 COSM5887080 c.672G>A p.M224I Substitution - Missense 19:55762983-55762983 + LN18 COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + SCC-9 COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + Detroit_562 COSM4000967 c.747C>A p.P249P Substitution - coding silent 19:55763058-55763058 + CN-AML-CR-50-Dx COSM4000974 c.848C>A p.S283Y Substitution - Missense 19:55773163-55773163 + TCGA-GM-A3NW-01 COSM3766448 c.516G>C p.V172V Substitution - coding silent 19:55762827-55762827 + sysucc-1171T COSM4000969 c.516C>G p.V172V Substitution - coding silent 19:55772831-55772831 + ORL-48 COSM148753 c.127G>A p.D43N Substitution - Missense 19:55761927-55761927 + CSCC-19-T COSM4544061 c.348G>A p.R116R Substitution - coding silent 19:55762659-55762659 + sysucc-731T COSM145047 c.830C>G p.T277S Substitution - Missense 19:55773145-55773145 + 2521262 COSM5892378 c.52C>T p.L18F Substitution - Missense 19:55771856-55771856 + PTC-28C COSM4132645 c.715A>T p.N239Y Substitution - Missense 19:55773030-55773030 + UD-SCC-2 COSM148753 c.127G>A p.D43N Substitution - Missense 19:55761927-55761927 + BHY COSM3835854 c.536T>A p.V179E Substitution - Missense 19:55762847-55762847 + sysucc-823T COSM4000967 c.747C>A p.P249P Substitution - coding silent 19:55763058-55763058 + BICR_22 COSM148753 c.127G>A p.D43N Substitution - Missense 19:55761927-55761927 + TCGA-D1-A16X-01 COSM1001650 c.356G>A p.R119Q Substitution - Missense 19:55762667-55762667 + SNUH_G15_S1 COSM3681070 c.425G>C p.G142A Substitution - Missense 19:55762736-55762736 + WSU-HN13 COSM148753 c.127G>A p.D43N Substitution - Missense 19:55761927-55761927 + CN-AML-NR-08-Dx COSM4000970 c.747C>A p.P249P Substitution - coding silent 19:55773062-55773062 + BHY COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + WSU-HN30 COSM3835854 c.536T>A p.V179E Substitution - Missense 19:55762847-55762847 + ESCC_BICR_060T COSM5434979 c.344T>G p.L115R Substitution - Missense 19:55762655-55762655 + PTC_441 COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + TCGA-B0-5693-01 COSM475319 c.418G>A p.V140I Substitution - Missense 19:55762729-55762729 + PTC-28C COSM4000970 c.747C>A p.P249P Substitution - coding silent 19:55773062-55773062 + CN-AML-08-T COSM3766448 c.516G>C p.V172V Substitution - coding silent 19:55762827-55762827 + CAL33 COSM148753 c.127G>A p.D43N Substitution - Missense 19:55761927-55761927 + BHY COSM148752 c.119A>G p.K40R Substitution - Missense 19:55761919-55761919 + PTC-6C COSM4000969 c.516C>G p.V172V Substitution - coding silent 19:55772831-55772831 + SNUH_G76_S1 COSM3835854 c.536T>A p.V179E Substitution - Missense 19:55762847-55762847 + sysucc-771T COSM5446733 c.833C>A p.A278D Substitution - Missense 19:55773148-55773148 + SNUH_G45_S1 COSM4000970 c.747C>A p.P249P Substitution - coding silent 19:55773062-55773062 + ML_28_T_01 COSM5037772 c.773G>A p.R258H Substitution - Missense 19:55763084-55763084 + UM-SCC-4 COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + AML_14y_08_DX COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + sysucc-627T COSM4000967 c.747C>A p.P249P Substitution - coding silent 19:55763058-55763058 + CN-AML-CR-61-Dx COSM4132643 c.119A>G p.K40R Substitution - Missense 19:55771923-55771923 + PET100T COSM4963663 c.286+10C>A p.? Unknown 19:55762096-55762096 + Detroit_562 COSM4000969 c.516C>G p.V172V Substitution - coding silent 19:55772831-55772831 + WSU-HN30 COSM4132640 c.409G>A p.A137T Substitution - Missense 19:55762720-55762720 + Detroit_562 COSM148754 c.776G>A p.G259E Substitution - Missense 19:55763087-55763087 + UM-SCC-4 COSM4132642 c.854A>G p.E285G Substitution - Missense 19:55763165-55763165 + WSU-HN13 COSM4132640 c.409G>A p.A137T Substitution - Missense 19:55762720-55762720 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.631553 19q13.42 612601

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.1-1063A>C 19 56272104 CLL A - Frameshift p.K6Nfs*10 c.18delA 19 56273182 RCCC C A Missense p.A198D c.593C>A 19 56274270 LUAD G A Missense p.V140I c.418G>A 19 56274095 RCCC G T Synonymous p.G235G c.705G>T 19 56274382 BRCA