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 13 30997584 30997584 deletion of <=200bp A - upstream_gene_variant BRCA-EU 13 30998186 30998186 single base substitution G C upstream_gene_variant BRCA-EU 13 31001062 31001062 deletion of <=200bp A - upstream_gene_variant BRCA-EU 13 31001517 31001517 single base substitution G C upstream_gene_variant BRCA-EU 13 31001783 31001783 deletion of <=200bp A - upstream_gene_variant BRCA-EU 13 31002603 31002603 single base substitution G A downstream_gene_variant BRCA-EU 13 31002603 31002603 single base substitution G A exon_variant BRCA-EU 13 31003694 31003694 single base substitution C A downstream_gene_variant BRCA-EU 13 31006632 31006632 single base substitution T C downstream_gene_variant BRCA-FR 13 31002603 31002603 single base substitution G A downstream_gene_variant BRCA-FR 13 31002603 31002603 single base substitution G A exon_variant BRCA-UK 13 31003694 31003694 single base substitution C A downstream_gene_variant CLLE-ES 13 31006491 31006491 single base substitution A C downstream_gene_variant EOPC-DE 13 30997286 30997286 single base substitution C G upstream_gene_variant ESAD-UK 13 30997584 30997584 insertion of <=200bp - A upstream_gene_variant ESAD-UK 13 30998144 30998144 single base substitution G A upstream_gene_variant ESAD-UK 13 31000017 31000017 single base substitution C T upstream_gene_variant ESAD-UK 13 31000332 31000332 single base substitution C A upstream_gene_variant ESAD-UK 13 31000489 31000489 single base substitution C A upstream_gene_variant ESAD-UK 13 31001354 31001354 single base substitution A C upstream_gene_variant ESAD-UK 13 31001354 31001354 single base substitution A G upstream_gene_variant ESAD-UK 13 31001628 31001628 single base substitution A T upstream_gene_variant ESAD-UK 13 31002249 31002249 single base substitution C A exon_variant ESAD-UK 13 31003231 31003231 single base substitution A C downstream_gene_variant ESAD-UK 13 31005593 31005593 single base substitution A G downstream_gene_variant ESAD-UK 13 31005702 31005702 single base substitution C T downstream_gene_variant ESAD-UK 13 31005799 31005799 single base substitution A T downstream_gene_variant ESAD-UK 13 31006106 31006106 single base substitution C A downstream_gene_variant ESAD-UK 13 31006331 31006331 single base substitution A C downstream_gene_variant ESAD-UK 13 31006355 31006355 single base substitution T A downstream_gene_variant ESAD-UK 13 31007263 31007263 deletion of <=200bp A - downstream_gene_variant LINC-JP 13 30997286 30997286 single base substitution C G upstream_gene_variant LINC-JP 13 31005476 31005476 single base substitution C A downstream_gene_variant LIRI-JP 13 30997360 30997367 deletion of <=200bp AAATCTCC - upstream_gene_variant LIRI-JP 13 30999027 30999027 single base substitution C T upstream_gene_variant LIRI-JP 13 30999265 30999265 single base substitution G A upstream_gene_variant LIRI-JP 13 30999764 30999764 single base substitution A G upstream_gene_variant LIRI-JP 13 31001612 31001612 single base substitution G T upstream_gene_variant LIRI-JP 13 31004207 31004207 deletion of <=200bp G - downstream_gene_variant LIRI-JP 13 31006365 31006365 single base substitution A G downstream_gene_variant LUSC-KR 13 30998263 30998263 single base substitution G T upstream_gene_variant LUSC-KR 13 30998437 30998437 single base substitution C G upstream_gene_variant LUSC-KR 13 31001757 31001757 single base substitution T G upstream_gene_variant MALY-DE 13 30997286 30997286 single base substitution C G upstream_gene_variant MALY-DE 13 30999011 30999011 single base substitution C A upstream_gene_variant MALY-DE 13 31000475 31000475 single base substitution G A upstream_gene_variant MALY-DE 13 31002744 31002744 single base substitution A T downstream_gene_variant MALY-DE 13 31003786 31003786 single base substitution G C downstream_gene_variant MALY-DE 13 31004354 31004354 single base substitution G A downstream_gene_variant MALY-DE 13 31004955 31004955 single base substitution A C downstream_gene_variant MALY-DE 13 31005704 31005704 single base substitution A G downstream_gene_variant MALY-DE 13 31005827 31005827 single base substitution A G downstream_gene_variant MELA-AU 13 30997832 30997832 single base substitution G A upstream_gene_variant MELA-AU 13 30998499 30998499 single base substitution A T upstream_gene_variant MELA-AU 13 30998688 30998688 single base substitution C T upstream_gene_variant MELA-AU 13 30999138 30999138 single base substitution C T upstream_gene_variant MELA-AU 13 30999228 30999228 single base substitution C T upstream_gene_variant MELA-AU 13 30999348 30999348 single base substitution A T upstream_gene_variant MELA-AU 13 30999777 30999777 single base substitution C T upstream_gene_variant MELA-AU 13 30999987 30999987 single base substitution C T upstream_gene_variant MELA-AU 13 31000019 31000019 single base substitution G C upstream_gene_variant MELA-AU 13 31000035 31000035 single base substitution C T upstream_gene_variant MELA-AU 13 31000119 31000119 single base substitution C T upstream_gene_variant MELA-AU 13 31000195 31000195 single base substitution C T upstream_gene_variant MELA-AU 13 31000207 31000207 single base substitution G A upstream_gene_variant MELA-AU 13 31000362 31000362 single base substitution C T upstream_gene_variant MELA-AU 13 31000577 31000577 single base substitution C T upstream_gene_variant MELA-AU 13 31000654 31000654 single base substitution C T upstream_gene_variant MELA-AU 13 31001878 31001878 single base substitution T C upstream_gene_variant MELA-AU 13 31002236 31002236 single base substitution G A exon_variant MELA-AU 13 31002287 31002287 single base substitution G A exon_variant MELA-AU 13 31002378 31002378 single base substitution A G exon_variant MELA-AU 13 31002447 31002447 single base substitution C T exon_variant MELA-AU 13 31002571 31002572 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 13 31003307 31003307 single base substitution A C downstream_gene_variant MELA-AU 13 31003387 31003387 single base substitution A C downstream_gene_variant MELA-AU 13 31003627 31003627 single base substitution C T downstream_gene_variant MELA-AU 13 31003706 31003706 single base substitution G A downstream_gene_variant MELA-AU 13 31003777 31003777 single base substitution T A downstream_gene_variant MELA-AU 13 31003798 31003798 single base substitution C T downstream_gene_variant MELA-AU 13 31004012 31004012 single base substitution G A downstream_gene_variant MELA-AU 13 31004275 31004275 single base substitution G A downstream_gene_variant MELA-AU 13 31004574 31004574 single base substitution G A downstream_gene_variant MELA-AU 13 31004610 31004610 single base substitution C T downstream_gene_variant MELA-AU 13 31004734 31004734 single base substitution C T downstream_gene_variant MELA-AU 13 31005031 31005031 single base substitution C T downstream_gene_variant MELA-AU 13 31005481 31005481 single base substitution G A downstream_gene_variant MELA-AU 13 31005730 31005730 single base substitution A C downstream_gene_variant MELA-AU 13 31006051 31006051 single base substitution G A downstream_gene_variant MELA-AU 13 31006531 31006531 single base substitution C T downstream_gene_variant MELA-AU 13 31006991 31006991 single base substitution C T downstream_gene_variant MELA-AU 13 31007004 31007004 single base substitution G A downstream_gene_variant MELA-AU 13 31007090 31007090 single base substitution C T downstream_gene_variant MELA-AU 13 31007188 31007188 single base substitution G A downstream_gene_variant MELA-AU 13 31007491 31007491 single base substitution C G downstream_gene_variant MELA-AU 13 31007557 31007557 single base substitution G A downstream_gene_variant ORCA-IN 13 31002872 31002872 single base substitution G T downstream_gene_variant OV-AU 13 31000364 31000364 single base substitution C A upstream_gene_variant PACA-AU 13 30998246 30998246 single base substitution C T upstream_gene_variant PACA-AU 13 30998298 30998298 single base substitution G A upstream_gene_variant PACA-AU 13 31000656 31000656 single base substitution T G upstream_gene_variant PACA-CA 13 31000173 31000173 single base substitution C T upstream_gene_variant PACA-CA 13 31000398 31000398 single base substitution A T upstream_gene_variant PACA-CA 13 31001768 31001768 single base substitution C G upstream_gene_variant PACA-CA 13 31003684 31003684 single base substitution T C downstream_gene_variant PACA-CA 13 31004304 31004304 single base substitution A T downstream_gene_variant PACA-CA 13 31004664 31004664 deletion of <=200bp G - downstream_gene_variant PBCA-DE 13 30997286 30997286 single base substitution C G upstream_gene_variant PBCA-DE 13 31002287 31002287 single base substitution G A exon_variant PBCA-DE 13 31003420 31003420 insertion of <=200bp - C downstream_gene_variant PBCA-DE 13 31004116 31004116 single base substitution T A downstream_gene_variant RECA-EU 13 30997630 30997630 single base substitution C T upstream_gene_variant RECA-EU 13 31006894 31006894 single base substitution G T downstream_gene_variant SKCA-BR 13 30999907 30999907 single base substitution C A upstream_gene_variant SKCA-BR 13 31000859 31000859 single base substitution C T upstream_gene_variant SKCA-BR 13 31001988 31001988 single base substitution C G upstream_gene_variant SKCA-BR 13 31003646 31003646 single base substitution C T downstream_gene_variant SKCA-BR 13 31003866 31003866 single base substitution G A downstream_gene_variant