Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 3 50645378 50645378 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr3:50645378G>A c.437C>T c.(436-438)tCc>tTc p.S146F BRCA 3 50645186 50645187 + Frame_Shift_Ins INS - - G TCGA-A8-A08S-01A-11W-A050-09 TCGA-A8-A08S-10A-01W-A055-09 g.chr3:50645186_50645187insG c.628_629insC c.(628-630)ctgfs p.L210fs BRCA 3 50645365 50645366 + Frame_Shift_Ins INS - - A TCGA-A8-A06X-01A-21W-A019-09 TCGA-A8-A06X-10A-01W-A021-09 g.chr3:50645365_50645366insA c.449_450insT c.(448-450)atcfs p.I150fs BRCA 3 50645371 50645371 + Silent SNP T T C TCGA-BH-A0E7-01A-11W-A050-09 TCGA-BH-A0E7-10A-01W-A055-09 g.chr3:50645371T>C c.444A>G c.(442-444)ccA>ccG p.P148P BRCA 3 50645374 50645375 + Frame_Shift_Ins INS - - T TCGA-A8-A06X-01A-21W-A019-09 TCGA-A8-A06X-10A-01W-A021-09 g.chr3:50645374_50645375insT c.440_441insA c.(439-441)aggfs p.R147fs COAD 3 50645079 50645079 + Missense_Mutation SNP G G A TCGA-AA-3655-01A-02D-1719-10 TCGA-AA-3655-11A-01D-1719-10 g.chr3:50645079G>A c.736C>T c.(736-738)Cgc>Tgc p.R246C COAD 3 50645162 50645162 + Missense_Mutation SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr3:50645162C>T c.653G>A c.(652-654)aGc>aAc p.S218N COADREAD 3 50645079 50645079 + Missense_Mutation SNP G G A TCGA-AA-3655-01A-02D-1719-10 TCGA-AA-3655-11A-01D-1719-10 g.chr3:50645079G>A c.736C>T c.(736-738)Cgc>Tgc p.R246C COADREAD 3 50645162 50645162 + Missense_Mutation SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr3:50645162C>T c.653G>A c.(652-654)aGc>aAc p.S218N DLBC 3 50645816 50645816 + Missense_Mutation SNP G G T TCGA-GS-A9TZ-01A-11D-A38X-10 TCGA-GS-A9TZ-10A-01D-A38X-10 g.chr3:50645816G>T c.229C>A c.(229-231)Ctt>Att p.L77I GBMLGG 3 50645154 50645154 + Missense_Mutation SNP G G A TCGA-CS-6665-01A-11D-1893-08 TCGA-CS-6665-10A-01D-1893-08 g.chr3:50645154G>A c.661C>T c.(661-663)Cgc>Tgc p.R221C HNSC 3 50645484 50645484 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 g.chr3:50645484G>A c.331C>T c.(331-333)Cac>Tac p.H111Y KIPAN 3 50645554 50645554 + Frame_Shift_Del DEL A A - TCGA-BQ-7045-01A-31D-1961-08 TCGA-BQ-7045-11A-01D-1961-08 g.chr3:50645554delA c.261delT c.(259-261)attfs p.I87fs KIPAN 3 50645901 50645901 + Missense_Mutation SNP C C A TCGA-A4-A5Y0-01A-11D-A31X-10 TCGA-A4-A5Y0-11A-11D-A31X-10 g.chr3:50645901C>A c.144G>T c.(142-144)gaG>gaT p.E48D KIRP 3 50645554 50645554 + Frame_Shift_Del DEL A A - TCGA-BQ-7045-01A-31D-1961-08 TCGA-BQ-7045-11A-01D-1961-08 g.chr3:50645554delA c.261delT c.(259-261)attfs p.I87fs KIRP 3 50645901 50645901 + Missense_Mutation SNP C C A TCGA-A4-A5Y0-01A-11D-A31X-10 TCGA-A4-A5Y0-11A-11D-A31X-10 g.chr3:50645901C>A c.144G>T c.(142-144)gaG>gaT p.E48D LGG 3 50645154 50645154 + Missense_Mutation SNP G G A TCGA-CS-6665-01A-11D-1893-08 TCGA-CS-6665-10A-01D-1893-08 g.chr3:50645154G>A c.661C>T c.(661-663)Cgc>Tgc p.R221C LIHC 3 50645109 50645109 + Frame_Shift_Del DEL C C - TCGA-DD-A11C-01A-11D-A12Z-10 TCGA-DD-A11C-11A-11D-A12Z-10 g.chr3:50645109delC c.706delG c.(706-708)gccfs p.A236fs LIHC 3 50645253 50645253 + Missense_Mutation SNP T T C TCGA-G3-AAV2-01A-11D-A36X-10 TCGA-G3-AAV2-10A-01D-A370-10 g.chr3:50645253T>C c.562A>G c.(562-564)Aag>Gag p.K188E LIHC 3 50645277 50645277 + Missense_Mutation SNP G G A TCGA-WX-AA44-01A-11D-A38X-10 TCGA-WX-AA44-10A-01D-A38X-10 g.chr3:50645277G>A c.538C>T c.(538-540)Ccc>Tcc p.P180S LIHC 3 50645332 50645332 + Missense_Mutation SNP C C A TCGA-ED-A4XI-01A-11D-A25V-10 TCGA-ED-A4XI-10A-01D-A25V-10 g.chr3:50645332C>A c.483G>T c.(481-483)caG>caT p.Q161H LIHC 3 50649061 50649061 + Splice_Site SNP C C T TCGA-2Y-A9H4-01A-11D-A382-10 TCGA-2Y-A9H4-10A-01D-A385-10 g.chr3:50649061C>T c.e1+1 LUAD 3 50645182 50645182 + Silent SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 g.chr3:50645182C>A c.633G>T c.(631-633)gtG>gtT p.V211V LUAD 3 50645412 50645412 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chr3:50645412C>A c.403G>T c.(403-405)Gac>Tac p.D135Y PAAD 3 50645400 50645400 + Missense_Mutation SNP G G C TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 g.chr3:50645400G>C c.415C>G c.(415-417)Cgt>Ggt p.R139G SARC 3 50645127 50645127 + Missense_Mutation SNP C C T TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 g.chr3:50645127C>T c.688G>A c.(688-690)Gtc>Atc p.V230I SARC 3 50645149 50645149 + Missense_Mutation SNP G G T TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 g.chr3:50645149G>T c.666C>A c.(664-666)agC>agA p.S222R SKCM 3 50645375 50645375 + Missense_Mutation SNP C C T TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr3:50645375C>T c.440G>A c.(439-441)aGg>aAg p.R147K SKCM 3 50645401 50645401 + Silent SNP G G A TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr3:50645401G>A c.414C>T c.(412-414)ttC>ttT p.F138F SKCM 3 50645558 50645558 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr3:50645558G>A c.257C>T c.(256-258)tCc>tTc p.S86F SKCM 3 50645938 50645938 + Missense_Mutation SNP G G A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 g.chr3:50645938G>A c.107C>T c.(106-108)cCc>cTc p.P36L SKCM 3 50646016 50646016 + Missense_Mutation SNP G G A TCGA-FR-A44A-06A-11D-A24R-08 TCGA-FR-A44A-10A-01D-A24R-08 g.chr3:50646016G>A c.29C>T c.(28-30)cCt>cTt p.P10L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 3 50645378 50645378 single base substitution G A exon_variant BLCA-US 3 50645378 50645378 single base substitution G A missense_variant S146F 437C>T BLCA-US 3 50645378 50645378 single base substitution G A missense_variant S163F 488C>T BRCA-EU 3 50639666 50639666 single base substitution C G downstream_gene_variant BRCA-EU 3 50640308 50640308 single base substitution C T downstream_gene_variant BRCA-EU 3 50641731 50641731 single base substitution G A downstream_gene_variant BRCA-EU 3 50642123 50642123 single base substitution C T downstream_gene_variant BRCA-EU 3 50642578 50642578 single base substitution G A downstream_gene_variant BRCA-EU 3 50643094 50643094 single base substitution G A downstream_gene_variant BRCA-EU 3 50643121 50643121 single base substitution G C downstream_gene_variant BRCA-EU 3 50643401 50643405 deletion of <=200bp GTTCT - downstream_gene_variant BRCA-EU 3 50645929 50645929 single base substitution G T exon_variant BRCA-EU 3 50645929 50645929 single base substitution G T missense_variant A39D 116C>A BRCA-EU 3 50645929 50645929 single base substitution G T missense_variant A56D 167C>A BRCA-EU 3 50646331 50646331 single base substitution C A exon_variant BRCA-EU 3 50646331 50646331 single base substitution C A intron_variant BRCA-EU 3 50649587 50649587 single base substitution G C upstream_gene_variant BRCA-EU 3 50654099 50654099 single base substitution G C upstream_gene_variant BRCA-FR 3 50641731 50641731 single base substitution G A downstream_gene_variant BRCA-FR 3 50643094 50643094 single base substitution G A downstream_gene_variant BRCA-FR 3 50643121 50643121 single base substitution G C downstream_gene_variant BRCA-UK 3 50645915 50645915 single base substitution C G exon_variant BRCA-UK 3 50645915 50645915 single base substitution C G missense_variant E44Q 130G>C BRCA-UK 3 50645915 50645915 single base substitution C G missense_variant E61Q 181G>C BRCA-US 3 50645186 50645186 insertion of <=200bp - G exon_variant BRCA-US 3 50645186 50645186 insertion of <=200bp - G frameshift_variant L210L? BRCA-US 3 50645186 50645186 insertion of <=200bp - G frameshift_variant L227L? BRCA-US 3 50645365 50645365 insertion of <=200bp - A exon_variant BRCA-US 3 50645365 50645365 insertion of <=200bp - A frameshift_variant I150I? BRCA-US 3 50645365 50645365 insertion of <=200bp - A frameshift_variant I167I? BRCA-US 3 50645371 50645371 single base substitution T C exon_variant BRCA-US 3 50645371 50645371 single base substitution T C synonymous_variant P148P 444A>G BRCA-US 3 50645371 50645371 single base substitution T C synonymous_variant P165P 495A>G BRCA-US 3 50645374 50645374 insertion of <=200bp - T exon_variant BRCA-US 3 50645374 50645374 insertion of <=200bp - T frameshift_variant R147R? BRCA-US 3 50645374 50645374 insertion of <=200bp - T frameshift_variant R164R? CLLE-ES 3 50646245 50646245 single base substitution T C exon_variant CLLE-ES 3 50646245 50646245 single base substitution T C intron_variant COAD-US 3 50645079 50645079 single base substitution G A exon_variant COAD-US 3 50645079 50645079 single base substitution G A missense_variant R246C 736C>T COAD-US 3 50645079 50645079 single base substitution G A missense_variant R263C 787C>T COAD-US 3 50645162 50645162 single base substitution C T exon_variant COAD-US 3 50645162 50645162 single base substitution C T missense_variant S218N 653G>A COAD-US 3 50645162 50645162 single base substitution C T missense_variant S235N 704G>A COCA-CN 3 50645082 50645082 single base substitution G A exon_variant COCA-CN 3 50645082 50645082 single base substitution G A missense_variant R245W 733C>T COCA-CN 3 50645082 50645082 single base substitution G A missense_variant R262W 784C>T ESAD-UK 3 50640522 50640522 single base substitution A C downstream_gene_variant ESAD-UK 3 50641471 50641471 single base substitution T C downstream_gene_variant ESAD-UK 3 50645536 50645536 single base substitution T C exon_variant ESAD-UK 3 50645536 50645536 single base substitution T C synonymous_variant R110R 330A>G ESAD-UK 3 50645536 50645536 single base substitution T C synonymous_variant R93R 279A>G ESAD-UK 3 50645966 50645966 single base substitution G T exon_variant ESAD-UK 3 50645966 50645966 single base substitution G T missense_variant L27M 79C>A ESAD-UK 3 50645966 50645966 single base substitution G T missense_variant L44M 130C>A ESAD-UK 3 50648124 50648124 single base substitution T C exon_variant ESAD-UK 3 50648124 50648124 single base substitution T C intron_variant ESAD-UK 3 50651326 50651326 single base substitution A T upstream_gene_variant ESAD-UK 3 50652341 50652341 single base substitution A G upstream_gene_variant ESAD-UK 3 50652761 50652761 insertion of <=200bp - TGTAAAGGTGTGAC upstream_gene_variant ESAD-UK 3 50653297 50653297 single base substitution T G upstream_gene_variant ESAD-UK 3 50653386 50653386 single base substitution G T upstream_gene_variant ESAD-UK 3 50654019 50654019 single base substitution C T upstream_gene_variant ESCA-CN 3 50645157 50645157 single base substitution C A exon_variant ESCA-CN 3 50645157 50645157 single base substitution C A missense_variant A220S 658G>T ESCA-CN 3 50645157 50645157 single base substitution C A missense_variant A237S 709G>T GACA-CN 3 50645394 50645394 single base substitution C T exon_variant GACA-CN 3 50645394 50645394 single base substitution C T missense_variant D141N 421G>A GACA-CN 3 50645394 50645394 single base substitution C T missense_variant D158N 472G>A KIRP-US 3 50645554 50645554 deletion of <=200bp A - exon_variant KIRP-US 3 50645554 50645554 deletion of <=200bp A - frameshift_variant I104 KIRP-US 3 50645554 50645554 deletion of <=200bp A - frameshift_variant I87 KIRP-US 3 50645901 50645901 single base substitution C A exon_variant KIRP-US 3 50645901 50645901 single base substitution C A missense_variant E48D 144G>T KIRP-US 3 50645901 50645901 single base substitution C A missense_variant E65D 195G>T LGG-US 3 50645154 50645154 single base substitution G A exon_variant LGG-US 3 50645154 50645154 single base substitution G A missense_variant R221C 661C>T LGG-US 3 50645154 50645154 single base substitution G A missense_variant R238C 712C>T LICA-FR 3 50654200 50654200 single base substitution C A upstream_gene_variant LIHC-US 3 50645109 50645109 deletion of <=200bp C - exon_variant LIHC-US 3 50645109 50645109 deletion of <=200bp C - frameshift_variant A236 LIHC-US 3 50645109 50645109 deletion of <=200bp C - frameshift_variant A253 LIHC-US 3 50645332 50645332 single base substitution C A exon_variant LIHC-US 3 50645332 50645332 single base substitution C A missense_variant Q161H 483G>T LIHC-US 3 50645332 50645332 single base substitution C A missense_variant Q178H 534G>T LINC-JP 3 50639982 50639982 single base substitution C T downstream_gene_variant LINC-JP 3 50646427 50646427 single base substitution T C exon_variant LINC-JP 3 50646427 50646427 single base substitution T C intron_variant LINC-JP 3 50647798 50647798 single base substitution G A exon_variant LINC-JP 3 50647798 50647798 single base substitution G A intron_variant LINC-JP 3 50647798 50647798 single base substitution G A splice_region_variant LINC-JP 3 50654200 50654200 single base substitution C A upstream_gene_variant LIRI-JP 3 50639276 50639276 single base substitution C G downstream_gene_variant LIRI-JP 3 50640637 50640637 single base substitution T C downstream_gene_variant LIRI-JP 3 50640646 50640646 single base substitution C A downstream_gene_variant LIRI-JP 3 50642643 50642643 single base substitution G A downstream_gene_variant LIRI-JP 3 50643739 50643743 deletion of <=200bp GAGAG - downstream_gene_variant LIRI-JP 3 50645154 50645154 single base substitution G A exon_variant LIRI-JP 3 50645154 50645154 single base substitution G A missense_variant R221C 661C>T LIRI-JP 3 50645154 50645154 single base substitution G A missense_variant R238C 712C>T LIRI-JP 3 50646518 50646518 single base substitution A C exon_variant LIRI-JP 3 50646518 50646518 single base substitution A C intron_variant LIRI-JP 3 50646634 50646634 single base substitution C T exon_variant LIRI-JP 3 50646634 50646634 single base substitution C T intron_variant LIRI-JP 3 50646780 50646780 single base substitution T C exon_variant LIRI-JP 3 50646780 50646780 single base substitution T C intron_variant LIRI-JP 3 50647836 50647836 single base substitution A C exon_variant LIRI-JP 3 50647836 50647836 single base substitution A C intron_variant LIRI-JP 3 50647836 50647836 single base substitution A C missense_variant D13E 39T>G LIRI-JP 3 50647837 50647837 single base substitution T G exon_variant LIRI-JP 3 50647837 50647837 single base substitution T G intron_variant LIRI-JP 3 50647837 50647837 single base substitution T G missense_variant D13A 38A>C LIRI-JP 3 50648190 50648190 single base substitution A T exon_variant LIRI-JP 3 50648190 50648190 single base substitution A T intron_variant LIRI-JP 3 50649968 50649968 single base substitution C A upstream_gene_variant LIRI-JP 3 50650821 50650834 deletion of <=200bp GGCTTCATGAGTGC - upstream_gene_variant LIRI-JP 3 50651000 50651000 single base substitution C G upstream_gene_variant LIRI-JP 3 50653273 50653273 single base substitution C T upstream_gene_variant LIRI-JP 3 50653804 50653804 deletion of <=200bp C - upstream_gene_variant LUSC-KR 3 50642632 50642632 single base substitution C T downstream_gene_variant LUSC-KR 3 50644134 50644134 single base substitution C T 3_prime_UTR_variant LUSC-KR 3 50644134 50644134 single base substitution C T exon_variant LUSC-KR 3 50645793 50645793 single base substitution C G intron_variant MALY-DE 3 50644086 50644086 single base substitution T C 3_prime_UTR_variant MALY-DE 3 50644086 50644086 single base substitution T C exon_variant MALY-DE 3 50647750 50647750 single base substitution G A exon_variant MALY-DE 3 50647750 50647750 single base substitution G A intron_variant MALY-DE 3 50650077 50650077 single base substitution G A upstream_gene_variant MELA-AU 3 50639431 50639431 single base substitution G A downstream_gene_variant MELA-AU 3 50639912 50639913 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 50640079 50640079 single base substitution C G downstream_gene_variant MELA-AU 3 50640127 50640127 single base substitution C T downstream_gene_variant MELA-AU 3 50640176 50640176 single base substitution C T downstream_gene_variant MELA-AU 3 50640257 50640257 single base substitution G A downstream_gene_variant MELA-AU 3 50640262 50640263 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 50640937 50640937 single base substitution C T downstream_gene_variant MELA-AU 3 50640938 50640938 single base substitution C T downstream_gene_variant MELA-AU 3 50641124 50641124 single base substitution G A downstream_gene_variant MELA-AU 3 50641142 50641142 single base substitution G A downstream_gene_variant MELA-AU 3 50641157 50641157 single base substitution T C downstream_gene_variant MELA-AU 3 50641258 50641258 single base substitution G A downstream_gene_variant MELA-AU 3 50641589 50641589 single base substitution C T downstream_gene_variant MELA-AU 3 50641888 50641888 single base substitution G A downstream_gene_variant MELA-AU 3 50642041 50642041 single base substitution G A downstream_gene_variant MELA-AU 3 50642062 50642062 single base substitution G A downstream_gene_variant MELA-AU 3 50642164 50642164 single base substitution G A downstream_gene_variant MELA-AU 3 50642243 50642243 single base substitution G A downstream_gene_variant MELA-AU 3 50643639 50643639 single base substitution C T downstream_gene_variant MELA-AU 3 50643641 50643641 single base substitution G A downstream_gene_variant MELA-AU 3 50644077 50644077 single base substitution C T 3_prime_UTR_variant MELA-AU 3 50644077 50644077 single base substitution C T exon_variant MELA-AU 3 50644528 50644528 single base substitution G A 3_prime_UTR_variant MELA-AU 3 50644528 50644528 single base substitution G A exon_variant MELA-AU 3 50644742 50644742 single base substitution C G 3_prime_UTR_variant MELA-AU 3 50644742 50644742 single base substitution C G exon_variant MELA-AU 3 50644750 50644750 single base substitution G A 3_prime_UTR_variant MELA-AU 3 50644750 50644750 single base substitution G A exon_variant MELA-AU 3 50644876 50644876 single base substitution C T 3_prime_UTR_variant MELA-AU 3 50644876 50644876 single base substitution C T exon_variant MELA-AU 3 50645538 50645538 single base substitution G A exon_variant MELA-AU 3 50645538 50645538 single base substitution G A stop_gained R110* 328C>T MELA-AU 3 50645538 50645538 single base substitution G A stop_gained R93* 277C>T MELA-AU 3 50645599 50645599 single base substitution G A intron_variant MELA-AU 3 50646793 50646793 single base substitution A G exon_variant MELA-AU 3 50646793 50646793 single base substitution A G intron_variant MELA-AU 3 50647007 50647007 single base substitution G A exon_variant MELA-AU 3 50647007 50647007 single base substitution G A intron_variant MELA-AU 3 50647188 50647188 single base substitution G A exon_variant MELA-AU 3 50647188 50647188 single base substitution G A intron_variant MELA-AU 3 50648868 50648868 single base substitution G A exon_variant MELA-AU 3 50648868 50648868 single base substitution G A intron_variant MELA-AU 3 50649443 50649443 single base substitution G A upstream_gene_variant MELA-AU 3 50649593 50649593 single base substitution G A upstream_gene_variant MELA-AU 3 50650180 50650180 single base substitution C G upstream_gene_variant MELA-AU 3 50650566 50650566 single base substitution C T upstream_gene_variant MELA-AU 3 50651000 50651000 single base substitution C T upstream_gene_variant MELA-AU 3 50651703 50651703 single base substitution C T upstream_gene_variant MELA-AU 3 50651705 50651705 single base substitution C T upstream_gene_variant MELA-AU 3 50651810 50651810 single base substitution C T upstream_gene_variant MELA-AU 3 50652019 50652019 single base substitution C T upstream_gene_variant MELA-AU 3 50652438 50652438 single base substitution C T upstream_gene_variant MELA-AU 3 50652521 50652521 single base substitution C T upstream_gene_variant MELA-AU 3 50652642 50652642 single base substitution G A upstream_gene_variant MELA-AU 3 50653082 50653082 single base substitution C T upstream_gene_variant MELA-AU 3 50653181 50653181 single base substitution G A upstream_gene_variant MELA-AU 3 50654071 50654071 single base substitution G A upstream_gene_variant ORCA-IN 3 50641547 50641547 single base substitution C T downstream_gene_variant OV-AU 3 50643346 50643346 single base substitution G A downstream_gene_variant OV-AU 3 50643458 50643458 single base substitution T C downstream_gene_variant OV-AU 3 50647244 50647244 single base substitution C T exon_variant OV-AU 3 50647244 50647244 single base substitution C T intron_variant OV-AU 3 50651146 50651146 single base substitution C A upstream_gene_variant OV-AU 3 50652759 50652759 single base substitution T C upstream_gene_variant OV-AU 3 50653449 50653449 single base substitution C A upstream_gene_variant PACA-AU 3 50645706 50645706 single base substitution T G intron_variant PACA-AU 3 50649536 50649536 single base substitution G A upstream_gene_variant PACA-AU 3 50651739 50651739 deletion of <=200bp T - upstream_gene_variant PACA-CA 3 50640533 50640533 single base substitution C T downstream_gene_variant PACA-CA 3 50645986 50645986 single base substitution C T exon_variant PACA-CA 3 50645986 50645986 single base substitution C T missense_variant R20Q 59G>A PACA-CA 3 50645986 50645986 single base substitution C T missense_variant R37Q 110G>A PACA-CA 3 50653692 50653692 single base substitution C G upstream_gene_variant PACA-CA 3 50653693 50653693 single base substitution C A upstream_gene_variant PAEN-AU 3 50640555 50640555 single base substitution T G downstream_gene_variant PBCA-DE 3 50647824 50647824 single base substitution G A exon_variant PBCA-DE 3 50647824 50647824 single base substitution G A intron_variant PBCA-DE 3 50647824 50647824 single base substitution G A synonymous_variant A17A 51C>T PBCA-DE 3 50648491 50648491 single base substitution C T exon_variant PBCA-DE 3 50648491 50648491 single base substitution C T intron_variant PRAD-CA 3 50639506 50639506 single base substitution C A downstream_gene_variant PRAD-CA 3 50639510 50639510 single base substitution C A downstream_gene_variant PRAD-CA 3 50644675 50644675 single base substitution C A 3_prime_UTR_variant PRAD-CA 3 50644675 50644675 single base substitution C A exon_variant PRAD-UK 3 50648442 50648442 single base substitution G C exon_variant PRAD-UK 3 50648442 50648442 single base substitution G C intron_variant RECA-EU 3 50644177 50644177 single base substitution T C 3_prime_UTR_variant RECA-EU 3 50644177 50644177 single base substitution T C exon_variant RECA-EU 3 50646345 50646345 single base substitution C T exon_variant RECA-EU 3 50646345 50646345 single base substitution C T intron_variant SKCA-BR 3 50639468 50639468 single base substitution C T downstream_gene_variant SKCA-BR 3 50639506 50639506 single base substitution C A downstream_gene_variant SKCA-BR 3 50640084 50640084 single base substitution T C downstream_gene_variant SKCA-BR 3 50640256 50640256 single base substitution G A downstream_gene_variant SKCA-BR 3 50640741 50640741 single base substitution C T downstream_gene_variant SKCA-BR 3 50645304 50645304 single base substitution T G exon_variant SKCA-BR 3 50645304 50645304 single base substitution T G missense_variant T171P 511A>C SKCA-BR 3 50645304 50645304 single base substitution T G missense_variant T188P 562A>C SKCA-BR 3 50645774 50645774 single base substitution G A intron_variant SKCA-BR 3 50647859 50647859 single base substitution T G exon_variant SKCA-BR 3 50647859 50647859 single base substitution T G intron_variant SKCA-BR 3 50647859 50647859 single base substitution T G missense_variant T6P 16A>C SKCA-BR 3 50651798 50651798 single base substitution T C upstream_gene_variant SKCM-US 3 50645375 50645375 single base substitution C T exon_variant SKCM-US 3 50645375 50645375 single base substitution C T missense_variant R147K 440G>A SKCM-US 3 50645375 50645375 single base substitution C T missense_variant R164K 491G>A SKCM-US 3 50645401 50645401 single base substitution G A exon_variant SKCM-US 3 50645401 50645401 single base substitution G A synonymous_variant F138F 414C>T SKCM-US 3 50645401 50645401 single base substitution G A synonymous_variant F155F 465C>T SKCM-US 3 50645558 50645558 single base substitution G A exon_variant SKCM-US 3 50645558 50645558 single base substitution G A missense_variant S103F 308C>T SKCM-US 3 50645558 50645558 single base substitution G A missense_variant S86F 257C>T SKCM-US 3 50645938 50645938 single base substitution G A exon_variant SKCM-US 3 50645938 50645938 single base substitution G A missense_variant P36L 107C>T SKCM-US 3 50645938 50645938 single base substitution G A missense_variant P53L 158C>T SKCM-US 3 50646016 50646016 single base substitution G A exon_variant SKCM-US 3 50646016 50646016 single base substitution G A missense_variant P10L 29C>T SKCM-US 3 50646016 50646016 single base substitution G A missense_variant P27L 80C>T STAD-US 3 50645243 50645243 single base substitution G A exon_variant STAD-US 3 50645243 50645243 single base substitution G A missense_variant A191V 572C>T STAD-US 3 50645243 50645243 single base substitution G A missense_variant A208V 623C>T STAD-US 3 50645297 50645297 single base substitution C T exon_variant STAD-US 3 50645297 50645297 single base substitution C T missense_variant S173N 518G>A STAD-US 3 50645297 50645297 single base substitution C T missense_variant S190N 569G>A STAD-US 3 50645819 50645821 deletion of <=200bp AGG - disruptive_inframe_deletion SY75Y STAD-US 3 50645819 50645821 deletion of <=200bp AGG - disruptive_inframe_deletion SY92Y STAD-US 3 50645819 50645821 deletion of <=200bp AGG - exon_variant THCA-SA 3 50645158 50645158 single base substitution A G exon_variant THCA-SA 3 50645158 50645158 single base substitution A G synonymous_variant S219S 657T>C THCA-SA 3 50645158 50645158 single base substitution A G synonymous_variant S236S 708T>C THCA-SA 3 50645413 50645413 single base substitution G A exon_variant THCA-SA 3 50645413 50645413 single base substitution G A synonymous_variant A134A 402C>T THCA-SA 3 50645413 50645413 single base substitution G A synonymous_variant A151A 453C>T THCA-SA 3 50647888 50647888 single base substitution T G 5_prime_UTR_variant THCA-SA 3 50647888 50647888 single base substitution T G exon_variant THCA-SA 3 50647888 50647888 single base substitution T G intron_variant UCEC-US 3 50645823 50645823 single base substitution G T exon_variant UCEC-US 3 50645823 50645823 single base substitution G T missense_variant F74L 222C>A UCEC-US 3 50645823 50645823 single base substitution G T missense_variant F91L 273C>A UCEC-US 3 50645878 50645879 deletion of <=200bp CT - exon_variant UCEC-US 3 50645878 50645879 deletion of <=200bp CT - frameshift_variant S56 UCEC-US 3 50645878 50645879 deletion of <=200bp CT - frameshift_variant S73

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-A8-A08S-01 COSM1485339 c.628_629insC p.L210fs*>50 Insertion - Frameshift 3:50607755-50607756 - TCGA-FR-A3YO-06 COSM3595606 c.257C>T p.S86F Substitution - Missense 3:50608127-50608127 - GC3_T COSM149394 c.421G>A p.D141N Substitution - Missense 3:50607963-50607963 - TCGA-FR-A44A-06 COSM3595610 c.29C>T p.P10L Substitution - Missense 3:50608585-50608585 - C086 COSM5528706 c.126C>T p.F42F Substitution - coding silent 3:50608488-50608488 - TCGA-AA-3655-01 COSM1424204 c.736C>T p.R246C Substitution - Missense 3:50607648-50607648 - SA097 COSM213645 c.532C>T p.P178S Substitution - Missense 3:50607852-50607852 - T351 COSM4672478 c.216G>A p.K72K Substitution - coding silent 3:50608398-50608398 - HN_62432 COSM127639 c.721C>T p.L241L Substitution - coding silent 3:50607663-50607663 - TCGA-ED-A4XI-01 COSM4913309 c.483G>T p.Q161H Substitution - Missense 3:50607901-50607901 - ESO-165 COSM1248349 c.681C>T p.C227C Substitution - coding silent 3:50607703-50607703 - 585208 COSM325000 c.106C>T p.P36S Substitution - Missense 3:50608508-50608508 - TCGA-D3-A3ML-06 COSM3595604 c.414C>T p.F138F Substitution - coding silent 3:50607970-50607970 - TCGA-FS-A1ZS-06 COSM3595608 c.107C>T p.P36L Substitution - Missense 3:50608507-50608507 - TCGA-A8-A06X-01 COSM5834703 c.449_450insT p.L151fs*20 Insertion - Frameshift 3:50607934-50607935 - TCGA-AD-5900-01 COSM1424206 c.653G>A p.S218N Substitution - Missense 3:50607731-50607731 - TCGA-BR-6452-01 COSM4118790 c.572C>T p.A191V Substitution - Missense 3:50607812-50607812 - PCSI_0083_Pa_P_526 COSM3781840 c.59G>A p.R20Q Substitution - Missense 3:50608555-50608555 - ZZUFHECRKL-G057T COSM5445572 c.658G>T p.A220S Substitution - Missense 3:50607726-50607726 - TCGA-CD-8527-01 COSM4118792 c.518G>A p.S173N Substitution - Missense 3:50607866-50607866 - TCGA-D1-A17F-01 COSM1046542 c.166_167delAG p.S56fs*1 Deletion - Frameshift 3:50608447-50608448 - ESO-916 COSM1248351 c.195G>T p.E65D Substitution - Missense 3:50608419-50608419 - TCGA-AP-A051-01 COSM1046540 c.222C>A p.F74L Substitution - Missense 3:50608392-50608392 - PD4120a COSM160010 c.130G>C p.E44Q Substitution - Missense 3:50608484-50608484 - CCK81 COSM2851503 c.357A>G p.S119S Substitution - coding silent 3:50608027-50608027 - TCGA-D3-A1Q6-06 COSM3595602 c.440G>A p.R147K Substitution - Missense 3:50607944-50607944 - DLD1 COSM4625145 c.503C>T p.T168I Substitution - Missense 3:50607881-50607881 - sysucc-1450T COSM5480274 c.733C>T p.R245W Substitution - Missense 3:50607651-50607651 - RK308_C01 COSM3767479 c.661C>T p.R221C Substitution - Missense 3:50607723-50607723 - TCGA-A4-A5Y0-01 COSM3993181 c.144G>T p.E48D Substitution - Missense 3:50608470-50608470 - TCGA-CS-6665-01 COSM3767479 c.661C>T p.R221C Substitution - Missense 3:50607723-50607723 - TCGA-BH-A0E7-01 COSM446764 c.444A>G p.P148P Substitution - coding silent 3:50607940-50607940 - TCGA-A8-A06X-01 COSM5834705 c.440_441insA p.P148fs*23 Insertion - Frameshift 3:50607943-50607944 - TCGA-DK-A3IU-01 COSM3775192 c.437C>T p.S146F Substitution - Missense 3:50607947-50607947 - LUAD-CHTN-MAD08-00104 COSM361244 c.529G>T p.D177Y Substitution - Missense 3:50607855-50607855 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.655334 3p21.3 602441

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.72-494T>G 3 50646518 HC C A Missense p.E82D c.246G>T 3 50645850 ESCA C G Missense p.E61Q c.181G>C 3 50645915 BRCA CT - Frameshift p.S73*fs*1 c.217_218delAG 3 50645878 UCEC C T IntronicSNV . c.1-617G>A 3 50648491 MB C T IntronicSNV . c.72-610G>A 3 50646634 HC C T Missense p.R164K c.491G>A 3 50645375 CM C T Missense p.R269Q c.806G>A 3 50645060 CM G A Missense p.H128Y c.382C>T 3 50645484 HNSC G A Missense p.P195S c.583C>T 3 50645283 BRCA G A Missense p.P272L c.815C>T 3 50645051 CM G A Missense p.P53L c.158C>T 3 50645938 CM G A Missense p.P53S c.157C>T 3 50645939 SCLC G A Missense p.R238C c.712C>T 3 50645154 LGG G A Missense p.S163F c.488C>T 3 50645378 BLCA G A Synonymous p.A17A c.51C>T 3 50647824 MB G A Synonymous p.C244C c.732C>T 3 50645134 ESCA G A Synonymous p.F155F c.465C>T 3 50645401 CM G A Synonymous p.L258L c.772C>T 3 50645094 HNSC - G Frameshift p.L227Pfs*60 c.679dupC 3 50645187 BRCA T C IntronicSNV . c.72-756A>G 3 50646780 HC T C Synonymous p.P165P c.495A>G 3 50645371 BRCA