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 1 1002156 1002159 deletion of <=200bp TCCA - downstream_gene_variant BRCA-EU 1 1004755 1004755 single base substitution C T downstream_gene_variant BRCA-EU 1 1007037 1007037 single base substitution C A 3_prime_UTR_variant BRCA-EU 1 1007099 1007099 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 1009155 1009155 single base substitution C A intron_variant BRCA-EU 1 1009710 1009710 single base substitution C G upstream_gene_variant BRCA-EU 1 1009858 1009858 single base substitution T A upstream_gene_variant BRCA-EU 1 1010215 1010215 single base substitution G C upstream_gene_variant BRCA-EU 1 1010326 1010326 single base substitution T C upstream_gene_variant BRCA-EU 1 1011516 1011516 single base substitution G A upstream_gene_variant BRCA-EU 1 1012603 1012603 single base substitution G T upstream_gene_variant BRCA-EU 1 1013130 1013130 single base substitution G C upstream_gene_variant BRCA-EU 1 1013759 1013759 single base substitution G C upstream_gene_variant BRCA-EU 1 1014017 1014017 single base substitution T G upstream_gene_variant BRCA-EU 1 1014185 1014185 single base substitution A T upstream_gene_variant BRCA-EU 1 1014221 1014221 single base substitution A T upstream_gene_variant BRCA-EU 1 1014236 1014236 single base substitution C T upstream_gene_variant BRCA-EU 1 1014296 1014296 single base substitution C T upstream_gene_variant BRCA-EU 1 1014406 1014406 single base substitution A C upstream_gene_variant BRCA-EU 1 1014537 1014537 single base substitution G T upstream_gene_variant BRCA-EU 1 1014661 1014661 single base substitution G C upstream_gene_variant BRCA-FR 1 1001509 1001509 single base substitution C T downstream_gene_variant BTCA-JP 1 1007218 1007218 single base substitution G A synonymous_variant L243L 729C>T BTCA-JP 1 1007489 1007489 single base substitution C T missense_variant R153H 458G>A CLLE-ES 1 1007399 1007399 single base substitution C T missense_variant R183H 548G>A CLLE-ES 1 1012681 1012681 single base substitution C G upstream_gene_variant CLLE-ES 1 1014180 1014181 multiple base substitution (>=2bp and <=200bp) GG CC upstream_gene_variant COCA-CN 1 1004204 1004204 single base substitution G A downstream_gene_variant ESAD-UK 1 1002069 1002069 single base substitution G A downstream_gene_variant ESAD-UK 1 1002800 1002800 single base substitution C T downstream_gene_variant ESAD-UK 1 1003677 1003677 single base substitution T G downstream_gene_variant ESAD-UK 1 1004767 1004767 single base substitution T C downstream_gene_variant ESAD-UK 1 1006618 1006618 single base substitution G C 3_prime_UTR_variant ESAD-UK 1 1007488 1007488 single base substitution G A synonymous_variant R153R 459C>T ESAD-UK 1 1007570 1007570 single base substitution G A missense_variant P126L 377C>T ESAD-UK 1 1010592 1010592 single base substitution G A upstream_gene_variant LAML-KR 1 1011321 1011321 single base substitution T C upstream_gene_variant LAML-KR 1 1011514 1011514 single base substitution C G upstream_gene_variant LAML-KR 1 1014027 1014027 single base substitution G A upstream_gene_variant LGG-US 1 1007253 1007253 deletion of <=200bp G - frameshift_variant R232 LICA-FR 1 1007343 1007343 single base substitution C A missense_variant A202S 604G>T LICA-FR 1 1014300 1014300 single base substitution C G upstream_gene_variant LICA-FR 1 1014301 1014301 single base substitution G C upstream_gene_variant LINC-JP 1 1010802 1010802 single base substitution C A upstream_gene_variant LIRI-JP 1 1010384 1010384 single base substitution C T upstream_gene_variant LUSC-KR 1 1001626 1001626 single base substitution C A downstream_gene_variant LUSC-KR 1 1001745 1001745 single base substitution G T downstream_gene_variant LUSC-KR 1 1002078 1002078 single base substitution C T downstream_gene_variant LUSC-KR 1 1002277 1002277 single base substitution C G downstream_gene_variant LUSC-KR 1 1002497 1002497 single base substitution C G downstream_gene_variant LUSC-KR 1 1002745 1002745 single base substitution C G downstream_gene_variant LUSC-KR 1 1009861 1009861 single base substitution G A upstream_gene_variant LUSC-KR 1 1014330 1014330 single base substitution C A upstream_gene_variant LUSC-KR 1 1014510 1014510 single base substitution C G upstream_gene_variant MALY-DE 1 1002906 1002906 single base substitution A C downstream_gene_variant MALY-DE 1 1003239 1003239 single base substitution G A downstream_gene_variant MALY-DE 1 1010391 1010391 single base substitution G C upstream_gene_variant MALY-DE 1 1012637 1012637 single base substitution T C upstream_gene_variant MELA-AU 1 1001492 1001492 single base substitution G A downstream_gene_variant MELA-AU 1 1001881 1001881 single base substitution G A downstream_gene_variant MELA-AU 1 1002329 1002329 single base substitution G A downstream_gene_variant MELA-AU 1 1002331 1002331 single base substitution G A downstream_gene_variant MELA-AU 1 1002371 1002371 single base substitution A C downstream_gene_variant MELA-AU 1 1002465 1002465 single base substitution G A downstream_gene_variant MELA-AU 1 1002663 1002664 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 1003133 1003133 single base substitution G A downstream_gene_variant MELA-AU 1 1003373 1003373 single base substitution G A downstream_gene_variant MELA-AU 1 1003430 1003430 single base substitution G A downstream_gene_variant MELA-AU 1 1003492 1003492 single base substitution C T downstream_gene_variant MELA-AU 1 1004708 1004708 single base substitution C T downstream_gene_variant MELA-AU 1 1004732 1004732 single base substitution G A downstream_gene_variant MELA-AU 1 1004737 1004737 single base substitution G A downstream_gene_variant MELA-AU 1 1004755 1004755 single base substitution C T downstream_gene_variant MELA-AU 1 1004784 1004784 single base substitution G A downstream_gene_variant MELA-AU 1 1005031 1005031 single base substitution C T downstream_gene_variant MELA-AU 1 1005307 1005308 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 1005583 1005583 single base substitution C T downstream_gene_variant MELA-AU 1 1005617 1005617 single base substitution C T downstream_gene_variant MELA-AU 1 1005702 1005702 single base substitution G A downstream_gene_variant MELA-AU 1 1006003 1006003 single base substitution G A downstream_gene_variant MELA-AU 1 1006269 1006269 single base substitution G A downstream_gene_variant MELA-AU 1 1006292 1006292 single base substitution C T downstream_gene_variant MELA-AU 1 1006334 1006334 single base substitution C T downstream_gene_variant MELA-AU 1 1006691 1006691 single base substitution G T 3_prime_UTR_variant MELA-AU 1 1006701 1006701 single base substitution G A 3_prime_UTR_variant MELA-AU 1 1006936 1006936 single base substitution G A 3_prime_UTR_variant MELA-AU 1 1007371 1007371 single base substitution C T synonymous_variant R192R 576G>A MELA-AU 1 1007888 1007888 single base substitution G A missense_variant S20F 59C>T MELA-AU 1 1008035 1008036 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 1008085 1008085 single base substitution T C intron_variant MELA-AU 1 1008368 1008368 single base substitution G A intron_variant MELA-AU 1 1008617 1008617 single base substitution G A intron_variant MELA-AU 1 1008622 1008622 single base substitution G A intron_variant MELA-AU 1 1008630 1008630 single base substitution G A intron_variant MELA-AU 1 1008791 1008791 single base substitution C T intron_variant MELA-AU 1 1008935 1008935 single base substitution C T intron_variant MELA-AU 1 1009098 1009098 single base substitution C T intron_variant MELA-AU 1 1009316 1009316 single base substitution C T intron_variant MELA-AU 1 1009331 1009331 single base substitution C T intron_variant MELA-AU 1 1009804 1009804 single base substitution G A upstream_gene_variant MELA-AU 1 1009809 1009809 single base substitution G A upstream_gene_variant MELA-AU 1 1010008 1010008 single base substitution C T upstream_gene_variant MELA-AU 1 1010504 1010504 single base substitution C T upstream_gene_variant MELA-AU 1 1010532 1010532 single base substitution G A upstream_gene_variant MELA-AU 1 1010751 1010751 single base substitution C T upstream_gene_variant MELA-AU 1 1010802 1010802 single base substitution C T upstream_gene_variant MELA-AU 1 1010919 1010919 single base substitution G A upstream_gene_variant MELA-AU 1 1010931 1010931 single base substitution G A upstream_gene_variant MELA-AU 1 1010934 1010934 single base substitution G A upstream_gene_variant MELA-AU 1 1011247 1011247 single base substitution G A upstream_gene_variant MELA-AU 1 1011487 1011487 single base substitution G A upstream_gene_variant MELA-AU 1 1012994 1012994 single base substitution C T upstream_gene_variant MELA-AU 1 1013125 1013125 single base substitution C T upstream_gene_variant OV-AU 1 1002242 1002242 single base substitution C T downstream_gene_variant OV-AU 1 1005214 1005214 single base substitution G A downstream_gene_variant OV-AU 1 1010501 1010501 single base substitution G A upstream_gene_variant OV-AU 1 1010850 1010850 single base substitution A T upstream_gene_variant PACA-AU 1 1003755 1003755 single base substitution C T downstream_gene_variant PACA-AU 1 1003845 1003845 single base substitution C T downstream_gene_variant PACA-AU 1 1005306 1005306 single base substitution C A downstream_gene_variant PACA-AU 1 1012513 1012513 single base substitution T G upstream_gene_variant PACA-AU 1 1012566 1012566 single base substitution G T upstream_gene_variant PACA-CA 1 1001512 1001512 single base substitution G A downstream_gene_variant PACA-CA 1 1007883 1007883 single base substitution C T missense_variant A22T 64G>A PBCA-DE 1 1004127 1004127 single base substitution C G downstream_gene_variant PBCA-DE 1 1009545 1009545 single base substitution C T 5_prime_UTR_variant PBCA-DE 1 1010020 1010020 single base substitution A C upstream_gene_variant PBCA-DE 1 1014270 1014270 single base substitution G C upstream_gene_variant PRAD-CA 1 1004202 1004202 single base substitution G A downstream_gene_variant PRAD-CA 1 1004204 1004204 single base substitution G A downstream_gene_variant PRAD-CA 1 1004427 1004427 single base substitution G A downstream_gene_variant PRAD-CA 1 1006643 1006643 single base substitution C T 3_prime_UTR_variant PRAD-UK 1 1004613 1004613 single base substitution C G downstream_gene_variant PRAD-UK 1 1012603 1012603 single base substitution G T upstream_gene_variant PRAD-UK 1 1013010 1013010 single base substitution G C upstream_gene_variant PRAD-UK 1 1014296 1014296 single base substitution C T upstream_gene_variant PRAD-UK 1 1014406 1014406 single base substitution A C upstream_gene_variant SKCA-BR 1 1002414 1002414 single base substitution G A downstream_gene_variant SKCA-BR 1 1003703 1003703 single base substitution A C downstream_gene_variant SKCA-BR 1 1004750 1004750 single base substitution C T downstream_gene_variant SKCA-BR 1 1004751 1004751 single base substitution C T downstream_gene_variant SKCA-BR 1 1006872 1006872 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 1007420 1007420 single base substitution T G missense_variant D176A 527A>C SKCA-BR 1 1007502 1007502 single base substitution T G missense_variant T149P 445A>C SKCA-BR 1 1007748 1007748 single base substitution C T missense_variant E67K 199G>A SKCA-BR 1 1009625 1009625 single base substitution A G 5_prime_UTR_variant SKCA-BR 1 1009638 1009638 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 1 1010655 1010655 single base substitution T C upstream_gene_variant SKCA-BR 1 1010746 1010746 single base substitution C T upstream_gene_variant SKCA-BR 1 1014451 1014451 single base substitution G C upstream_gene_variant SKCA-BR 1 1014493 1014493 single base substitution G T upstream_gene_variant THCA-SA 1 1007559 1007559 single base substitution G C missense_variant R130G 388C>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 61 COSM5735198 c.539G>A p.R180H Substitution - Missense 1:1072028-1072028 - CHC1207T COSM4800089 c.604G>T p.A202S Substitution - Missense 1:1071963-1071963 - CHC1207T COSM4800089 c.604G>T p.A202S Substitution - Missense 1:1071963-1071963 - ML_106_T_01 COSM5038205 c.527A>C p.D176A Substitution - Missense 1:1072040-1072040 - BD72T COSM5511435 c.458G>A p.R153H Substitution - Missense 1:1072109-1072109 - S02290 COSM5686321 c.530C>T p.P177L Substitution - Missense 1:1072037-1072037 - 723-03-2TD COSM5418967 c.548G>A p.R183H Substitution - Missense 1:1072019-1072019 - 2293758 COSM4606898 c.404T>A p.V135E Substitution - Missense 1:1072163-1072163 - PTC-28C COSM4142056 c.725C>A p.P242H Substitution - Missense 1:1071842-1071842 - PCSI_0090_Pa_P COSM3376614 c.64G>A p.A22T Substitution - Missense 1:1072503-1072503 - Au5 COSM5606028 c.84C>T p.P28P Substitution - coding silent 1:1072483-1072483 - PTC-515C COSM4142056 c.725C>A p.P242H Substitution - Missense 1:1071842-1071842 - PTC-53C COSM4142057 c.515C>T p.A172V Substitution - Missense 1:1072052-1072052 - Au4 COSM5604720 c.698C>T p.P233L Substitution - Missense 1:1071869-1071869 - 18 COSM5744647 c.380C>T p.A127V Substitution - Missense 1:1072187-1072187 - PTC_448 COSM5959360 c.388C>G p.R130G Substitution - Missense 1:1072179-1072179 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.568133;Hs.568137 1p36.33