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 17 7144702 7144702 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 g.chr17:7144702C>T c.247G>A c.(247-249)Gtc>Atc p.V83I BLCA 17 7144969 7144969 + Silent SNP C C G TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chr17:7144969C>G c.120G>C c.(118-120)cgG>cgC p.R40R BRCA 17 7144763 7144763 + Silent SNP G G A TCGA-E9-A1RH-01A-21D-A167-09 TCGA-E9-A1RH-10A-01D-A167-09 g.chr17:7144763G>A c.186C>T c.(184-186)ttC>ttT p.F62F BRCA 17 7145570 7145570 + Missense_Mutation SNP T T C TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 g.chr17:7145570T>C c.80A>G c.(79-81)gAc>gGc p.D27G CESC 17 7144732 7144732 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr17:7144732C>T c.217G>A c.(217-219)Gag>Aag p.E73K LUSC 17 7144663 7144663 + Missense_Mutation SNP G G T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr17:7144663G>T c.286C>A c.(286-288)Cag>Aag p.Q96K SKCM 17 7144739 7144739 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr17:7144739G>A c.210C>T c.(208-210)ctC>ctT p.L70L

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 17 7150494 7150494 single base substitution C T upstream_gene_variant BLCA-US 17 7145647 7145647 single base substitution C T exon_variant BLCA-US 17 7145647 7145647 single base substitution C T start_lost M1I 3G>A BLCA-US 17 7145647 7145647 single base substitution C T upstream_gene_variant BRCA-EU 17 7138443 7138443 single base substitution G C downstream_gene_variant BRCA-EU 17 7143452 7143452 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 17 7143452 7143452 deletion of <=200bp A - downstream_gene_variant BRCA-EU 17 7144996 7144996 single base substitution C A 5_prime_UTR_variant BRCA-EU 17 7144996 7144996 single base substitution C A intron_variant BRCA-EU 17 7144996 7144996 single base substitution C A splice_region_variant BRCA-EU 17 7145400 7145400 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 17 7145400 7145400 single base substitution C A intron_variant BRCA-EU 17 7145400 7145400 single base substitution C A splice_region_variant BRCA-EU 17 7145400 7145400 single base substitution C A upstream_gene_variant BRCA-EU 17 7147133 7147133 single base substitution A T upstream_gene_variant BRCA-EU 17 7150324 7150324 single base substitution G A upstream_gene_variant BRCA-EU 17 7150325 7150325 single base substitution T A upstream_gene_variant BRCA-EU 17 7150972 7150972 single base substitution G A upstream_gene_variant BRCA-FR 17 7142586 7142586 single base substitution T G downstream_gene_variant BRCA-FR 17 7144996 7144996 single base substitution C A 5_prime_UTR_variant BRCA-FR 17 7144996 7144996 single base substitution C A intron_variant BRCA-FR 17 7144996 7144996 single base substitution C A splice_region_variant BRCA-FR 17 7150972 7150972 single base substitution G A upstream_gene_variant BRCA-UK 17 7138996 7138996 single base substitution C A downstream_gene_variant BRCA-UK 17 7139001 7139001 single base substitution C A downstream_gene_variant BRCA-UK 17 7139011 7139011 single base substitution C T downstream_gene_variant BRCA-UK 17 7139504 7139504 single base substitution C G downstream_gene_variant BRCA-UK 17 7144209 7144209 single base substitution G A 3_prime_UTR_variant BRCA-UK 17 7144209 7144209 single base substitution G A downstream_gene_variant BRCA-UK 17 7144209 7144209 single base substitution G A synonymous_variant Y106Y 318C>T BRCA-UK 17 7144209 7144209 single base substitution G A synonymous_variant Y16Y 48C>T BRCA-US 17 7139066 7139066 deletion of <=200bp T - downstream_gene_variant BRCA-US 17 7139710 7139710 single base substitution C T downstream_gene_variant BRCA-US 17 7144763 7144763 single base substitution G A 5_prime_UTR_variant BRCA-US 17 7144763 7144763 single base substitution G A exon_variant BRCA-US 17 7144763 7144763 single base substitution G A synonymous_variant F62F 186C>T BRCA-US 17 7145570 7145570 single base substitution T C 5_prime_UTR_variant BRCA-US 17 7145570 7145570 single base substitution T C exon_variant BRCA-US 17 7145570 7145570 single base substitution T C missense_variant D27G 80A>G BRCA-US 17 7145570 7145570 single base substitution T C upstream_gene_variant BTCA-JP 17 7139638 7139638 single base substitution C T downstream_gene_variant BTCA-JP 17 7139911 7139911 deletion of <=200bp G - downstream_gene_variant BTCA-JP 17 7140930 7140930 single base substitution A G downstream_gene_variant BTCA-JP 17 7147467 7147467 deletion of <=200bp C - upstream_gene_variant CESC-US 17 7140950 7140950 single base substitution G T downstream_gene_variant CESC-US 17 7144732 7144732 single base substitution C T 3_prime_UTR_variant CESC-US 17 7144732 7144732 single base substitution C T 5_prime_UTR_variant CESC-US 17 7144732 7144732 single base substitution C T missense_variant E73K 217G>A CESC-US 17 7147886 7147886 insertion of <=200bp - TGGG upstream_gene_variant CLLE-ES 17 7147744 7147744 single base substitution G A upstream_gene_variant CLLE-ES 17 7149930 7149930 single base substitution C T upstream_gene_variant COAD-US 17 7139085 7139085 single base substitution G T downstream_gene_variant COAD-US 17 7139431 7139431 single base substitution A G downstream_gene_variant COAD-US 17 7139478 7139478 single base substitution C T downstream_gene_variant COAD-US 17 7139520 7139520 deletion of <=200bp G - downstream_gene_variant COAD-US 17 7139764 7139764 deletion of <=200bp G - downstream_gene_variant COAD-US 17 7139911 7139911 deletion of <=200bp G - downstream_gene_variant COAD-US 17 7139955 7139955 single base substitution G T downstream_gene_variant COAD-US 17 7139966 7139966 single base substitution C T downstream_gene_variant COAD-US 17 7149619 7149619 single base substitution T G upstream_gene_variant COCA-CN 17 7142749 7142749 single base substitution A C downstream_gene_variant COCA-CN 17 7149485 7149485 single base substitution C T upstream_gene_variant ESAD-UK 17 7139062 7139062 single base substitution G A downstream_gene_variant ESAD-UK 17 7140305 7140305 single base substitution C T downstream_gene_variant ESAD-UK 17 7145068 7145068 single base substitution G A 5_prime_UTR_variant ESAD-UK 17 7145068 7145068 single base substitution G A intron_variant ESAD-UK 17 7146149 7146149 single base substitution G A upstream_gene_variant ESAD-UK 17 7148001 7148001 single base substitution G C upstream_gene_variant ESAD-UK 17 7149960 7149960 single base substitution G C upstream_gene_variant ESCA-CN 17 7139271 7139271 single base substitution G A downstream_gene_variant ESCA-CN 17 7140606 7140606 single base substitution A G downstream_gene_variant ESCA-CN 17 7147350 7147350 insertion of <=200bp - C upstream_gene_variant GBM-US 17 7139423 7139423 single base substitution G A downstream_gene_variant KIRC-US 17 7139291 7139291 single base substitution C G downstream_gene_variant KIRC-US 17 7147938 7147938 single base substitution G T upstream_gene_variant KIRP-US 17 7139965 7139965 single base substitution G T downstream_gene_variant KIRP-US 17 7147902 7147902 single base substitution A G upstream_gene_variant KIRP-US 17 7149598 7149598 single base substitution A G upstream_gene_variant LGG-US 17 7139547 7139547 single base substitution T C downstream_gene_variant LICA-CN 17 7144752 7144752 single base substitution T A 3_prime_UTR_variant LICA-CN 17 7144752 7144752 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant LICA-CN 17 7144752 7144752 single base substitution T A missense_variant K66M 197A>T LICA-FR 17 7139123 7139123 single base substitution C A downstream_gene_variant LICA-FR 17 7139274 7139274 single base substitution C T downstream_gene_variant LICA-FR 17 7145493 7145493 insertion of <=200bp - A 5_prime_UTR_variant LICA-FR 17 7145493 7145493 insertion of <=200bp - A intron_variant LICA-FR 17 7145493 7145493 insertion of <=200bp - A upstream_gene_variant LICA-FR 17 7146320 7146320 single base substitution C A upstream_gene_variant LICA-FR 17 7150128 7150128 single base substitution C A upstream_gene_variant LIHC-US 17 7139869 7139869 single base substitution G C downstream_gene_variant LIHC-US 17 7150596 7150596 single base substitution C T upstream_gene_variant LINC-JP 17 7140092 7140092 single base substitution A T downstream_gene_variant LINC-JP 17 7146317 7146317 single base substitution A G upstream_gene_variant LIRI-JP 17 7138352 7138352 single base substitution A G downstream_gene_variant LIRI-JP 17 7146469 7146469 single base substitution C T upstream_gene_variant LIRI-JP 17 7147297 7147297 single base substitution G T upstream_gene_variant LIRI-JP 17 7149640 7149640 single base substitution T C upstream_gene_variant LIRI-JP 17 7149930 7149930 single base substitution C A upstream_gene_variant LIRI-JP 17 7150506 7150506 single base substitution A G upstream_gene_variant LUSC-KR 17 7138544 7138544 single base substitution A G downstream_gene_variant LUSC-KR 17 7141823 7141823 single base substitution A C downstream_gene_variant LUSC-KR 17 7141841 7141841 single base substitution C G downstream_gene_variant LUSC-KR 17 7144146 7144146 single base substitution C A 3_prime_UTR_variant LUSC-KR 17 7144146 7144146 single base substitution C A downstream_gene_variant LUSC-KR 17 7146347 7146347 single base substitution G A upstream_gene_variant LUSC-US 17 7139892 7139892 single base substitution A G downstream_gene_variant LUSC-US 17 7139897 7139897 single base substitution A C downstream_gene_variant LUSC-US 17 7144663 7144663 single base substitution G T missense_variant Q6K 16C>A LUSC-US 17 7144663 7144663 single base substitution G T missense_variant Q96K 286C>A LUSC-US 17 7144663 7144663 single base substitution G T splice_region_variant MELA-AU 17 7138522 7138522 single base substitution G A downstream_gene_variant MELA-AU 17 7138955 7138955 single base substitution C A downstream_gene_variant MELA-AU 17 7142697 7142697 single base substitution G A downstream_gene_variant MELA-AU 17 7143013 7143013 single base substitution C T downstream_gene_variant MELA-AU 17 7143052 7143052 single base substitution G A downstream_gene_variant MELA-AU 17 7143053 7143053 single base substitution G A downstream_gene_variant MELA-AU 17 7143059 7143059 single base substitution G A downstream_gene_variant MELA-AU 17 7143091 7143091 single base substitution G A downstream_gene_variant MELA-AU 17 7143101 7143101 single base substitution G A downstream_gene_variant MELA-AU 17 7143174 7143174 single base substitution C T downstream_gene_variant MELA-AU 17 7143179 7143179 single base substitution G A downstream_gene_variant MELA-AU 17 7143707 7143707 single base substitution G A 3_prime_UTR_variant MELA-AU 17 7143707 7143707 single base substitution G A downstream_gene_variant MELA-AU 17 7143835 7143835 single base substitution G A 3_prime_UTR_variant MELA-AU 17 7143835 7143835 single base substitution G A downstream_gene_variant MELA-AU 17 7144097 7144097 single base substitution G A 3_prime_UTR_variant MELA-AU 17 7144097 7144097 single base substitution G A downstream_gene_variant MELA-AU 17 7144359 7144359 single base substitution C T downstream_gene_variant MELA-AU 17 7144359 7144359 single base substitution C T intron_variant MELA-AU 17 7145030 7145030 single base substitution G A 5_prime_UTR_variant MELA-AU 17 7145030 7145030 single base substitution G A intron_variant MELA-AU 17 7145371 7145372 multiple base substitution (>=2bp and <=200bp) CC TA 5_prime_UTR_variant MELA-AU 17 7145371 7145372 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 17 7145371 7145372 multiple base substitution (>=2bp and <=200bp) CC TA upstream_gene_variant MELA-AU 17 7145888 7145888 single base substitution C T 5_prime_UTR_variant MELA-AU 17 7145888 7145888 single base substitution C T upstream_gene_variant MELA-AU 17 7145889 7145889 single base substitution C T 5_prime_UTR_variant MELA-AU 17 7145889 7145889 single base substitution C T upstream_gene_variant MELA-AU 17 7146203 7146203 single base substitution C T upstream_gene_variant MELA-AU 17 7146313 7146313 single base substitution G A upstream_gene_variant MELA-AU 17 7147932 7147932 single base substitution G A upstream_gene_variant MELA-AU 17 7149814 7149815 multiple base substitution (>=2bp and <=200bp) GG AC upstream_gene_variant MELA-AU 17 7149903 7149903 single base substitution G A upstream_gene_variant MELA-AU 17 7150190 7150190 single base substitution G A upstream_gene_variant MELA-AU 17 7150351 7150351 single base substitution G A upstream_gene_variant MELA-AU 17 7150997 7150997 single base substitution T G upstream_gene_variant ORCA-IN 17 7145233 7145233 single base substitution C T 5_prime_UTR_variant ORCA-IN 17 7145233 7145233 single base substitution C T intron_variant ORCA-IN 17 7145233 7145233 single base substitution C T upstream_gene_variant ORCA-IN 17 7150491 7150491 single base substitution C T upstream_gene_variant OV-AU 17 7147026 7147026 single base substitution G A upstream_gene_variant OV-AU 17 7148836 7148836 single base substitution G C upstream_gene_variant OV-AU 17 7148841 7148841 single base substitution G A upstream_gene_variant OV-AU 17 7149303 7149303 single base substitution A C upstream_gene_variant PACA-AU 17 7142278 7142278 single base substitution C T downstream_gene_variant PACA-AU 17 7147558 7147558 single base substitution G A upstream_gene_variant PACA-CA 17 7143879 7143879 single base substitution G T 3_prime_UTR_variant PACA-CA 17 7143879 7143879 single base substitution G T downstream_gene_variant PACA-CA 17 7146020 7146020 single base substitution G T 5_prime_UTR_variant PACA-CA 17 7146020 7146020 single base substitution G T upstream_gene_variant PACA-CA 17 7147774 7147774 single base substitution G A upstream_gene_variant PBCA-DE 17 7147931 7147931 single base substitution A T upstream_gene_variant PBCA-DE 17 7149679 7149679 single base substitution C T upstream_gene_variant PBCA-DE 17 7150115 7150115 single base substitution C A upstream_gene_variant PBCA-DE 17 7150149 7150149 insertion of <=200bp - A upstream_gene_variant PBCA-DE 17 7150155 7150155 insertion of <=200bp - A upstream_gene_variant PBCA-DE 17 7150641 7150641 single base substitution G A upstream_gene_variant PBCA-DE 17 7150650 7150650 single base substitution G A upstream_gene_variant PRAD-CA 17 7145776 7145776 single base substitution C T 5_prime_UTR_variant PRAD-CA 17 7145776 7145776 single base substitution C T upstream_gene_variant PRAD-UK 17 7144243 7144243 single base substitution G A downstream_gene_variant PRAD-UK 17 7144243 7144243 single base substitution G A intron_variant PRAD-UK 17 7144810 7144810 single base substitution C G intron_variant PRAD-US 17 7140001 7140001 single base substitution G A downstream_gene_variant RECA-EU 17 7138866 7138866 single base substitution A G downstream_gene_variant RECA-EU 17 7139238 7139238 single base substitution G A downstream_gene_variant SKCA-BR 17 7138712 7138712 single base substitution G A downstream_gene_variant SKCA-BR 17 7138919 7138919 single base substitution G A downstream_gene_variant SKCA-BR 17 7140782 7140782 single base substitution C A downstream_gene_variant SKCA-BR 17 7142875 7142875 single base substitution T C downstream_gene_variant SKCA-BR 17 7145241 7145241 single base substitution G A 5_prime_UTR_variant SKCA-BR 17 7145241 7145241 single base substitution G A intron_variant SKCA-BR 17 7145241 7145241 single base substitution G A upstream_gene_variant SKCA-BR 17 7145788 7145788 single base substitution A C 5_prime_UTR_variant SKCA-BR 17 7145788 7145788 single base substitution A C upstream_gene_variant SKCA-BR 17 7146559 7146559 single base substitution G A upstream_gene_variant SKCM-US 17 7139346 7139346 single base substitution G A downstream_gene_variant SKCM-US 17 7139776 7139776 single base substitution G A downstream_gene_variant SKCM-US 17 7140086 7140086 single base substitution C A downstream_gene_variant SKCM-US 17 7144739 7144739 single base substitution G A 3_prime_UTR_variant SKCM-US 17 7144739 7144739 single base substitution G A 5_prime_UTR_variant SKCM-US 17 7144739 7144739 single base substitution G A synonymous_variant L70L 210C>T SKCM-US 17 7150120 7150120 single base substitution A C upstream_gene_variant STAD-US 17 7139443 7139443 deletion of <=200bp C - downstream_gene_variant STAD-US 17 7139475 7139475 single base substitution T C downstream_gene_variant STAD-US 17 7139520 7139520 deletion of <=200bp G - downstream_gene_variant STAD-US 17 7139748 7139748 deletion of <=200bp G - downstream_gene_variant STAD-US 17 7139763 7139763 insertion of <=200bp - G downstream_gene_variant STAD-US 17 7139764 7139764 insertion of <=200bp - G downstream_gene_variant STAD-US 17 7139893 7139893 single base substitution C T downstream_gene_variant STAD-US 17 7140733 7140733 single base substitution A G downstream_gene_variant STAD-US 17 7140781 7140781 single base substitution G A downstream_gene_variant STAD-US 17 7147528 7147528 single base substitution G C upstream_gene_variant THCA-US 17 7139630 7139630 single base substitution G C downstream_gene_variant THCA-US 17 7139847 7139847 single base substitution G C downstream_gene_variant UCEC-US 17 7139464 7139466 deletion of <=200bp TCT - downstream_gene_variant UCEC-US 17 7139564 7139564 single base substitution G A downstream_gene_variant UCEC-US 17 7139698 7139698 single base substitution C T downstream_gene_variant UCEC-US 17 7139748 7139748 single base substitution G T downstream_gene_variant UCEC-US 17 7139879 7139879 single base substitution C T downstream_gene_variant UCEC-US 17 7140748 7140748 single base substitution T G downstream_gene_variant UCEC-US 17 7144227 7144227 single base substitution T G 3_prime_UTR_variant UCEC-US 17 7144227 7144227 single base substitution T G downstream_gene_variant UCEC-US 17 7144227 7144227 single base substitution T G missense_variant E100D 300A>C UCEC-US 17 7144227 7144227 single base substitution T G missense_variant E10D 30A>C UCEC-US 17 7149424 7149424 single base substitution C A upstream_gene_variant UCEC-US 17 7149674 7149674 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-55-T COSM4541966 c.30G>A p.P10P Substitution - coding silent 17:7242301-7242301 - 8 COSM5044406 c.341T>G p.V114G Substitution - Missense 17:7240867-7240867 - H1155 COSM1196094 c.238G>A p.V80I Substitution - Missense 17:7241392-7241392 - HCC042T COSM5823811 c.197A>T p.K66M Substitution - Missense 17:7241433-7241433 - HCC73T COSM1610709 c.43C>A p.R15S Substitution - Missense 17:7242288-7242288 - T578 COSM4686061 c.333C>T p.D111D Substitution - coding silent 17:7240875-7240875 - TCGA-37-3789-01 COSM707386 c.286C>A p.Q96K Substitution - Missense 17:7241344-7241344 - TCGA-EE-A2MR-06 COSM3521658 c.210C>T p.L70L Substitution - coding silent 17:7241420-7241420 - TCGA-DK-A1AC-01 COSM1303287 c.3G>A p.M1I Substitution - Missense 17:7242328-7242328 - 0025_CRUK_PC_0025_T1_DNA COSM5421540 c.289-5C>T p.? Unknown 17:7240924-7240924 - CAL27 COSM2976891 c.49G>A p.E17K Substitution - Missense 17:7242282-7242282 - TCGA-IR-A3LA-01 COSM4845568 c.217G>A p.E73K Substitution - Missense 17:7241413-7241413 - TCGA-E9-A1RH-01 COSM1479945 c.186C>T p.F62F Substitution - coding silent 17:7241444-7241444 - TCGA-E2-A15G-01 COSM437280 c.80A>G p.D27G Substitution - Missense 17:7242251-7242251 - PD4093a COSM161190 c.318C>T p.Y106Y Substitution - coding silent 17:7240890-7240890 - TCGA-B5-A11E-01 COSM983895 c.300A>C p.E100D Substitution - Missense 17:7240908-7240908 - CSCC-16-T COSM4567683 c.81_82CC>TT p.R28W Substitution - Missense 17:7242249-7242250 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.647421 17p13.1 605125 2480307|CGAP|BC106748|A/T|non-coding||578|Validated; 2480307|CGAP|BC106749|A/T|non-coding||578|Validated; 1512590|dbSNP|BC106748|G/T|non-coding||426|Confirmed; 1512590|dbSNP|BC106749|G/T|non-coding||426|Confirmed

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer G A Synonymous p.F62F c.186C>T 17 7144763 BRCA G A Synonymous p.Y106Y c.318C>T 17 7144209 BRCA G T Missense p.Q96K c.286C>A 17 7144663 LUSC T C Missense p.D27G c.80A>G 17 7145570 BRCA