Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 17 8296813 8296813 single base substitution G A intron_variant ALL-US 17 8296813 8296813 single base substitution G A upstream_gene_variant BOCA-FR 17 8302507 8302507 single base substitution T A upstream_gene_variant BRCA-EU 17 8290212 8290212 single base substitution G A downstream_gene_variant BRCA-EU 17 8291694 8291695 deletion of <=200bp AT - downstream_gene_variant BRCA-EU 17 8293458 8293458 single base substitution C T downstream_gene_variant BRCA-EU 17 8293585 8293585 single base substitution G A downstream_gene_variant BRCA-EU 17 8293655 8293655 single base substitution T C downstream_gene_variant BRCA-EU 17 8294012 8294012 single base substitution C G downstream_gene_variant BRCA-EU 17 8294428 8294428 single base substitution C A 3_prime_UTR_variant BRCA-EU 17 8298376 8298376 single base substitution T C intron_variant BRCA-EU 17 8298376 8298376 single base substitution T C upstream_gene_variant BRCA-EU 17 8298414 8298414 single base substitution A C intron_variant BRCA-EU 17 8298414 8298414 single base substitution A C upstream_gene_variant BRCA-EU 17 8298987 8298987 single base substitution C G intron_variant BRCA-EU 17 8298987 8298987 single base substitution C G upstream_gene_variant BRCA-EU 17 8299427 8299427 single base substitution T C intron_variant BRCA-EU 17 8299427 8299427 single base substitution T C upstream_gene_variant BRCA-EU 17 8301169 8301169 single base substitution G C upstream_gene_variant BRCA-EU 17 8302717 8302717 single base substitution C A upstream_gene_variant BRCA-EU 17 8305092 8305092 single base substitution C T upstream_gene_variant BRCA-FR 17 8289504 8289504 single base substitution C T downstream_gene_variant BRCA-UK 17 8301169 8301169 single base substitution G C upstream_gene_variant BRCA-US 17 8296596 8296596 single base substitution G A missense_variant P62S 184C>T BTCA-JP 17 8296440 8296440 single base substitution G A missense_variant P114S 340C>T BTCA-JP 17 8296781 8296781 single base substitution G A 5_prime_UTR_variant CLLE-ES 17 8289040 8289040 single base substitution C T downstream_gene_variant CLLE-ES 17 8297494 8297494 single base substitution A C splice_donor_variant CLLE-ES 17 8297494 8297494 single base substitution A C upstream_gene_variant CLLE-ES 17 8303128 8303128 single base substitution C G upstream_gene_variant COAD-US 17 8296383 8296383 single base substitution C T missense_variant A133T 397G>A COAD-US 17 8296440 8296440 single base substitution G A missense_variant P114S 340C>T COAD-US 17 8296701 8296701 single base substitution C T missense_variant A27T 79G>A COCA-CN 17 8296618 8296618 single base substitution C T synonymous_variant Q54Q 162G>A COCA-CN 17 8296709 8296709 single base substitution A G missense_variant L24P 71T>C EOPC-DE 17 8299984 8299984 single base substitution C T intron_variant EOPC-DE 17 8299984 8299984 single base substitution C T upstream_gene_variant ESAD-UK 17 8289951 8289951 single base substitution G A downstream_gene_variant ESAD-UK 17 8292618 8292618 single base substitution G T downstream_gene_variant ESAD-UK 17 8296765 8296765 single base substitution C T synonymous_variant E5E 15G>A ESAD-UK 17 8303212 8303212 single base substitution C G upstream_gene_variant ESAD-UK 17 8304731 8304731 insertion of <=200bp - GATCGATC upstream_gene_variant ESAD-UK 17 8305823 8305823 single base substitution T A upstream_gene_variant ESCA-CN 17 8296581 8296581 single base substitution C T missense_variant V67I 199G>A LICA-FR 17 8297557 8297557 single base substitution G C 5_prime_UTR_variant LICA-FR 17 8297557 8297557 single base substitution G C upstream_gene_variant LINC-JP 17 8296497 8296497 single base substitution G A missense_variant P95S 283C>T LIRI-JP 17 8292030 8292030 single base substitution A C downstream_gene_variant LIRI-JP 17 8294740 8294740 single base substitution C T 3_prime_UTR_variant LIRI-JP 17 8302833 8302833 single base substitution C T upstream_gene_variant LIRI-JP 17 8305223 8305223 single base substitution T C upstream_gene_variant LUSC-KR 17 8295128 8295128 single base substitution A G 3_prime_UTR_variant LUSC-KR 17 8296099 8296099 single base substitution G A 3_prime_UTR_variant LUSC-KR 17 8303151 8303151 single base substitution T A upstream_gene_variant MALY-DE 17 8292094 8292094 single base substitution C T downstream_gene_variant MALY-DE 17 8292747 8292747 deletion of <=200bp C - downstream_gene_variant MALY-DE 17 8298499 8298499 single base substitution G T intron_variant MALY-DE 17 8298499 8298499 single base substitution G T upstream_gene_variant MALY-DE 17 8300002 8300002 single base substitution C T intron_variant MALY-DE 17 8300002 8300002 single base substitution C T upstream_gene_variant MALY-DE 17 8300548 8300548 single base substitution G A intron_variant MALY-DE 17 8300548 8300548 single base substitution G A upstream_gene_variant MALY-DE 17 8304732 8304732 insertion of <=200bp - ATCT upstream_gene_variant MELA-AU 17 8290339 8290339 single base substitution C T downstream_gene_variant MELA-AU 17 8290652 8290652 single base substitution G A downstream_gene_variant MELA-AU 17 8290813 8290813 single base substitution C T downstream_gene_variant MELA-AU 17 8291187 8291187 single base substitution C T downstream_gene_variant MELA-AU 17 8291377 8291377 single base substitution C T downstream_gene_variant MELA-AU 17 8291452 8291452 single base substitution C G downstream_gene_variant MELA-AU 17 8291456 8291456 single base substitution G C downstream_gene_variant MELA-AU 17 8291500 8291500 single base substitution G A downstream_gene_variant MELA-AU 17 8291669 8291670 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 8292239 8292239 single base substitution C T downstream_gene_variant MELA-AU 17 8292271 8292271 single base substitution C T downstream_gene_variant MELA-AU 17 8292753 8292753 single base substitution C T downstream_gene_variant MELA-AU 17 8293103 8293103 single base substitution G C downstream_gene_variant MELA-AU 17 8293635 8293635 single base substitution C T downstream_gene_variant MELA-AU 17 8293870 8293870 single base substitution G A downstream_gene_variant MELA-AU 17 8294046 8294046 single base substitution T C 3_prime_UTR_variant MELA-AU 17 8294550 8294551 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 17 8294620 8294620 single base substitution G A 3_prime_UTR_variant MELA-AU 17 8294805 8294805 single base substitution C T 3_prime_UTR_variant MELA-AU 17 8295662 8295662 single base substitution T C 3_prime_UTR_variant MELA-AU 17 8296127 8296127 single base substitution T C missense_variant K218R 653A>G MELA-AU 17 8296716 8296717 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant FR21FW MELA-AU 17 8297076 8297076 single base substitution C T intron_variant MELA-AU 17 8297076 8297076 single base substitution C T upstream_gene_variant MELA-AU 17 8297523 8297523 single base substitution T G 5_prime_UTR_variant MELA-AU 17 8297523 8297523 single base substitution T G upstream_gene_variant MELA-AU 17 8298037 8298037 single base substitution G A intron_variant MELA-AU 17 8298037 8298037 single base substitution G A upstream_gene_variant MELA-AU 17 8298290 8298290 single base substitution G A intron_variant MELA-AU 17 8298290 8298290 single base substitution G A upstream_gene_variant MELA-AU 17 8298330 8298330 single base substitution T G intron_variant MELA-AU 17 8298330 8298330 single base substitution T G upstream_gene_variant MELA-AU 17 8298525 8298525 single base substitution G A intron_variant MELA-AU 17 8298525 8298525 single base substitution G A upstream_gene_variant MELA-AU 17 8299136 8299136 single base substitution G A intron_variant MELA-AU 17 8299136 8299136 single base substitution G A upstream_gene_variant MELA-AU 17 8299219 8299219 single base substitution C T intron_variant MELA-AU 17 8299219 8299219 single base substitution C T upstream_gene_variant MELA-AU 17 8299763 8299763 single base substitution G A intron_variant MELA-AU 17 8299763 8299763 single base substitution G A upstream_gene_variant MELA-AU 17 8299818 8299818 single base substitution C T intron_variant MELA-AU 17 8299818 8299818 single base substitution C T upstream_gene_variant MELA-AU 17 8299870 8299870 single base substitution C T intron_variant MELA-AU 17 8299870 8299870 single base substitution C T upstream_gene_variant MELA-AU 17 8299871 8299871 single base substitution C T intron_variant MELA-AU 17 8299871 8299871 single base substitution C T upstream_gene_variant MELA-AU 17 8300031 8300031 single base substitution C T intron_variant MELA-AU 17 8300031 8300031 single base substitution C T upstream_gene_variant MELA-AU 17 8300034 8300034 single base substitution C G intron_variant MELA-AU 17 8300034 8300034 single base substitution C G upstream_gene_variant MELA-AU 17 8300286 8300286 single base substitution G A intron_variant MELA-AU 17 8300286 8300286 single base substitution G A upstream_gene_variant MELA-AU 17 8300406 8300406 single base substitution C T intron_variant MELA-AU 17 8300406 8300406 single base substitution C T upstream_gene_variant MELA-AU 17 8300564 8300564 single base substitution C T intron_variant MELA-AU 17 8300564 8300564 single base substitution C T upstream_gene_variant MELA-AU 17 8300630 8300630 single base substitution G A intron_variant MELA-AU 17 8300630 8300630 single base substitution G A upstream_gene_variant MELA-AU 17 8300665 8300665 single base substitution G A intron_variant MELA-AU 17 8300665 8300665 single base substitution G A upstream_gene_variant MELA-AU 17 8301183 8301183 single base substitution C T upstream_gene_variant MELA-AU 17 8301227 8301227 single base substitution G A upstream_gene_variant MELA-AU 17 8301574 8301574 single base substitution A G upstream_gene_variant MELA-AU 17 8301945 8301946 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 8302262 8302262 single base substitution G A upstream_gene_variant MELA-AU 17 8302296 8302296 single base substitution C T upstream_gene_variant MELA-AU 17 8302358 8302358 single base substitution C T upstream_gene_variant MELA-AU 17 8302382 8302382 single base substitution G A upstream_gene_variant MELA-AU 17 8302922 8302922 single base substitution C T upstream_gene_variant MELA-AU 17 8302972 8302972 single base substitution C T upstream_gene_variant MELA-AU 17 8303009 8303009 single base substitution C T upstream_gene_variant MELA-AU 17 8303238 8303238 single base substitution G A upstream_gene_variant MELA-AU 17 8303303 8303303 single base substitution C T upstream_gene_variant MELA-AU 17 8303643 8303643 single base substitution T C upstream_gene_variant MELA-AU 17 8303907 8303907 single base substitution G A upstream_gene_variant MELA-AU 17 8304019 8304019 single base substitution C T upstream_gene_variant MELA-AU 17 8304426 8304426 single base substitution C T upstream_gene_variant MELA-AU 17 8304864 8304864 single base substitution C T upstream_gene_variant MELA-AU 17 8304865 8304865 single base substitution C T upstream_gene_variant MELA-AU 17 8305358 8305358 single base substitution G A upstream_gene_variant MELA-AU 17 8305397 8305397 single base substitution G A upstream_gene_variant MELA-AU 17 8305569 8305569 single base substitution G A upstream_gene_variant MELA-AU 17 8305716 8305716 single base substitution A T upstream_gene_variant MELA-AU 17 8305798 8305799 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 8306080 8306080 single base substitution G A upstream_gene_variant ORCA-IN 17 8291283 8291284 multiple base substitution (>=2bp and <=200bp) TG GC downstream_gene_variant ORCA-IN 17 8291452 8291452 single base substitution C G downstream_gene_variant ORCA-IN 17 8295688 8295688 single base substitution G C 3_prime_UTR_variant OV-AU 17 8291391 8291391 single base substitution A G downstream_gene_variant OV-AU 17 8293779 8293779 single base substitution G A downstream_gene_variant OV-AU 17 8300991 8300991 single base substitution C G intron_variant OV-AU 17 8300991 8300991 single base substitution C G upstream_gene_variant OV-AU 17 8301141 8301141 single base substitution A G 5_prime_UTR_variant OV-AU 17 8301141 8301141 single base substitution A G upstream_gene_variant PACA-AU 17 8293266 8293266 single base substitution G A downstream_gene_variant PACA-AU 17 8303605 8303605 single base substitution C G upstream_gene_variant PACA-AU 17 8303726 8303726 single base substitution A G upstream_gene_variant PACA-AU 17 8305149 8305149 single base substitution A C upstream_gene_variant PACA-CA 17 8295908 8295922 deletion of <=200bp ACACGCGCCGCGCGC - 3_prime_UTR_variant PACA-CA 17 8295913 8295913 single base substitution C T 3_prime_UTR_variant PACA-CA 17 8296230 8296230 single base substitution C T missense_variant A184T 550G>A PACA-CA 17 8296581 8296581 single base substitution C T missense_variant V67I 199G>A PACA-CA 17 8297489 8297489 single base substitution C T splice_region_variant PACA-CA 17 8297489 8297489 single base substitution C T upstream_gene_variant PACA-CA 17 8299468 8299468 single base substitution C T intron_variant PACA-CA 17 8299468 8299468 single base substitution C T upstream_gene_variant PACA-CA 17 8303879 8303879 single base substitution A G upstream_gene_variant PACA-CA 17 8304730 8304730 insertion of <=200bp - GATC upstream_gene_variant PAEN-AU 17 8300437 8300437 single base substitution G T intron_variant PAEN-AU 17 8300437 8300437 single base substitution G T upstream_gene_variant PAEN-IT 17 8290735 8290735 single base substitution T G downstream_gene_variant PAEN-IT 17 8301980 8301980 single base substitution C T upstream_gene_variant PBCA-DE 17 8291281 8291282 deletion of <=200bp TG - downstream_gene_variant PBCA-DE 17 8292314 8292329 deletion of <=200bp CTTCCTTCCTTCCTTC - downstream_gene_variant PBCA-DE 17 8293798 8293798 single base substitution G A downstream_gene_variant PBCA-DE 17 8297264 8297264 single base substitution G A intron_variant PBCA-DE 17 8297264 8297264 single base substitution G A upstream_gene_variant PBCA-DE 17 8299894 8299894 single base substitution G A intron_variant PBCA-DE 17 8299894 8299894 single base substitution G A upstream_gene_variant PRAD-CA 17 8291452 8291452 single base substitution C G downstream_gene_variant PRAD-UK 17 8301147 8301147 single base substitution G A upstream_gene_variant READ-US 17 8296383 8296383 single base substitution C T missense_variant A133T 397G>A READ-US 17 8296440 8296440 single base substitution G A missense_variant P114S 340C>T RECA-EU 17 8304735 8304735 single base substitution T G upstream_gene_variant RECA-EU 17 8304739 8304739 single base substitution T G upstream_gene_variant RECA-EU 17 8305730 8305730 single base substitution G A upstream_gene_variant RECA-EU 17 8305844 8305844 single base substitution C T upstream_gene_variant SKCA-BR 17 8289074 8289074 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 17 8290738 8290759 deletion of <=200bp TTTGAGATGGAGTCTCACTCTG - downstream_gene_variant SKCA-BR 17 8291280 8291282 deletion of <=200bp CTG - downstream_gene_variant SKCA-BR 17 8291436 8291440 deletion of <=200bp GTATC - downstream_gene_variant SKCA-BR 17 8292313 8292325 deletion of <=200bp ACTTCCTTCCTTC - downstream_gene_variant SKCA-BR 17 8292352 8292352 single base substitution T C downstream_gene_variant SKCA-BR 17 8292368 8292368 single base substitution T C downstream_gene_variant SKCA-BR 17 8297756 8297757 deletion of <=200bp GT - intron_variant SKCA-BR 17 8297756 8297757 deletion of <=200bp GT - upstream_gene_variant SKCA-BR 17 8298993 8298993 single base substitution A G intron_variant SKCA-BR 17 8298993 8298993 single base substitution A G upstream_gene_variant SKCA-BR 17 8299895 8299895 single base substitution G A intron_variant SKCA-BR 17 8299895 8299895 single base substitution G A upstream_gene_variant SKCA-BR 17 8300406 8300406 single base substitution C T intron_variant SKCA-BR 17 8300406 8300406 single base substitution C T upstream_gene_variant SKCA-BR 17 8300914 8300914 single base substitution T C intron_variant SKCA-BR 17 8300914 8300914 single base substitution T C upstream_gene_variant SKCA-BR 17 8301684 8301684 single base substitution G A upstream_gene_variant SKCA-BR 17 8301945 8301945 single base substitution C T upstream_gene_variant SKCA-BR 17 8302175 8302175 single base substitution A C upstream_gene_variant SKCA-BR 17 8302505 8302505 single base substitution C T upstream_gene_variant SKCA-BR 17 8304653 8304653 single base substitution A C upstream_gene_variant SKCA-BR 17 8304730 8304730 insertion of <=200bp - AGATC upstream_gene_variant SKCA-BR 17 8304739 8304739 single base substitution T G upstream_gene_variant SKCA-BR 17 8304776 8304776 single base substitution A C upstream_gene_variant SKCA-BR 17 8305075 8305075 single base substitution C T upstream_gene_variant SKCA-BR 17 8305958 8305958 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 17 8305958 8305959 deletion of <=200bp CA - upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand BD87T COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - TCGA-G4-6321-01 COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - Detroit_562 COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - CAL27 COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - TCGA-AH-6644-01 COSM3749428 c.397G>A p.A133T Substitution - Missense 17:8393065-8393065 - ESCC_BICR_032T COSM4962076 c.199G>A p.V67I Substitution - Missense 17:8393263-8393263 - CSCC-11-T COSM4488309 c.330C>T p.A110A Substitution - coding silent 17:8393132-8393132 - TCGA-AY-6196-01 COSM3749428 c.397G>A p.A133T Substitution - Missense 17:8393065-8393065 - BICR_22 COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - SCC-25 COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - NOKSI COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - S02286 COSM5685258 c.374C>T p.P125L Substitution - Missense 17:8393088-8393088 - TCGA-AO-A0J5-01 COSM437872 c.184C>T p.P62S Substitution - Missense 17:8393278-8393278 - HCC142T COSM1611038 c.630G>T p.L210L Substitution - coding silent 17:8392832-8392832 - ORL-48 COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - TCGA-AA-3663-01 COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - TCGA-F5-6863-01 COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - UM-SCC-11B COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - BICR_22 COSM4593264 c.296C>T p.P99L Substitution - Missense 17:8393166-8393166 - SC_9038 COSM5561681 c.45C>T p.P15P Substitution - coding silent 17:8393417-8393417 - TCGA-AZ-4615-01 COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - TCGA-AZ-4615-01 COSM3749428 c.397G>A p.A133T Substitution - Missense 17:8393065-8393065 - WSU-HN8 COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - HCC174 COSM3717801 c.283C>T p.P95S Substitution - Missense 17:8393179-8393179 - 93VU147T COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - HCC174T COSM3717801 c.283C>T p.P95S Substitution - Missense 17:8393179-8393179 - sysucc-880T COSM5462741 c.71T>C p.L24P Substitution - Missense 17:8393391-8393391 - SW620 COSM2882434 c.53A>G p.Y18C Substitution - Missense 17:8393409-8393409 - WSU-HN30 COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - TCGA-CM-5864-01 COSM3749428 c.397G>A p.A133T Substitution - Missense 17:8393065-8393065 - UM-SCC-17B COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - WSU-HN6 COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - SCC-9 COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - WSU-HN12 COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - CAL33 COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - UD-SCC-2 COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - TCGA-AZ-4615-01 COSM3691970 c.79G>A p.A27T Substitution - Missense 17:8393383-8393383 - UPCI:SCC090 COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - UM-SCC-47 COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - UM-SCC-4 COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - pfg181T COSM4746661 c.409delC p.L137fs*80 Deletion - Frameshift 17:8393053-8393053 - PTC-7C COSM4130885 c.44C>T p.P15L Substitution - Missense 17:8393418-8393418 - PCSI_0509_Pa_P_526 COSM4962076 c.199G>A p.V67I Substitution - Missense 17:8393263-8393263 - TCGA-AU-6004-01 COSM3749429 c.340C>T p.P114S Substitution - Missense 17:8393122-8393122 - TCGA-F4-6703-01 COSM3749428 c.397G>A p.A133T Substitution - Missense 17:8393065-8393065 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.526529;Hs.526550 17p13.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C T 3-UTRSNV . c.660+1380G>A 17 8294740 HC G A Missense p.P62S c.184C>T 17 8296596 BRCA