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 16 74330812 74330812 + De_novo_Start_InFrame SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chr16:74330812G>A BLCA 16 74339276 74339276 + Missense_Mutation SNP A A G TCGA-UY-A78N-01A-12D-A339-08 TCGA-UY-A78N-10A-01D-A339-08 g.chr16:74339276A>G c.620A>G c.(619-621)gAt>gGt p.D207G BLCA 16 74339435 74339435 + Missense_Mutation SNP T T A TCGA-5N-A9KM-01A-11D-A42E-08 TCGA-5N-A9KM-10A-01D-A42H-08 g.chr16:74339435T>A c.779T>A c.(778-780)gTg>gAg p.V260E BRCA 16 74334086 74334086 + Missense_Mutation SNP G G A TCGA-AR-A1AI-01A-11D-A12Q-09 TCGA-AR-A1AI-10A-01D-A12Q-09 g.chr16:74334086G>A c.148G>A c.(148-150)Gta>Ata p.V50I COAD 16 74335475 74335475 + Nonsense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr16:74335475G>A c.282G>A c.(280-282)tgG>tgA p.W94* COAD 16 74338233 74338233 + Silent SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr16:74338233C>T c.471C>T c.(469-471)caC>caT p.H157H COAD 16 74339391 74339391 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr16:74339391C>T c.735C>T c.(733-735)ttC>ttT p.F245F COAD 16 74339609 74339617 + In_Frame_Del DEL AGGAGAAAA AGGAGAAAA - TCGA-AA-3975-01A-01W-0995-10 TCGA-AA-3975-10A-01W-0999-10 g.chr16:74339609_74339617delAGGAGAAAA c.953_961delAGGAGAAAA c.(952-963)gaggagaaaaag>gag p.EKK322del COADREAD 16 74335475 74335475 + Nonsense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr16:74335475G>A c.282G>A c.(280-282)tgG>tgA p.W94* COADREAD 16 74338233 74338233 + Silent SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr16:74338233C>T c.471C>T c.(469-471)caC>caT p.H157H COADREAD 16 74339391 74339391 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr16:74339391C>T c.735C>T c.(733-735)ttC>ttT p.F245F COADREAD 16 74339609 74339617 + In_Frame_Del DEL AGGAGAAAA AGGAGAAAA - TCGA-AA-3975-01A-01W-0995-10 TCGA-AA-3975-10A-01W-0999-10 g.chr16:74339609_74339617delAGGAGAAAA c.953_961delAGGAGAAAA c.(952-963)gaggagaaaaag>gag p.EKK322del DLBC 16 74334016 74334016 + Silent SNP C C T TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr16:74334016C>T c.78C>T c.(76-78)atC>atT p.I26I KIPAN 16 74334042 74334042 + Missense_Mutation SNP T T G TCGA-AK-3460-01A-02D-1361-10 TCGA-AK-3460-10A-01D-1361-10 g.chr16:74334042T>G c.104T>G c.(103-105)gTt>gGt p.V35G KIPAN 16 74335517 74335517 + Missense_Mutation SNP C C G TCGA-Y8-A896-01A-11D-A35Z-10 TCGA-Y8-A896-10A-01D-A35Z-10 g.chr16:74335517C>G c.324C>G c.(322-324)atC>atG p.I108M KIRC 16 74334042 74334042 + Missense_Mutation SNP T T G TCGA-AK-3460-01A-02D-1361-10 TCGA-AK-3460-10A-01D-1361-10 g.chr16:74334042T>G c.104T>G c.(103-105)gTt>gGt p.V35G KIRP 16 74335517 74335517 + Missense_Mutation SNP C C G TCGA-Y8-A896-01A-11D-A35Z-10 TCGA-Y8-A896-10A-01D-A35Z-10 g.chr16:74335517C>G c.324C>G c.(322-324)atC>atG p.I108M LUAD 16 74336183 74336183 + Missense_Mutation SNP T T A TCGA-17-Z028-01A-01W-0746-08 TCGA-17-Z028-11A-01W-0746-08 g.chr16:74336183T>A c.431T>A c.(430-432)gTc>gAc p.V144D LUAD 16 74339302 74339302 + Missense_Mutation SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 g.chr16:74339302G>A c.646G>A c.(646-648)Gcc>Acc p.A216T LUAD 16 74339560 74339560 + Missense_Mutation SNP G G A TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr16:74339560G>A c.904G>A c.(904-906)Gag>Aag p.E302K LUSC 16 74338292 74338292 + Splice_Site SNP G G A TCGA-66-2763-01A-01D-1522-08 TCGA-66-2763-11A-01D-1522-08 g.chr16:74338292G>A c.530G>A c.(529-531)cGa>cAa p.R177Q LUSC 16 74339275 74339275 + Missense_Mutation SNP G G C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 g.chr16:74339275G>C c.619G>C c.(619-621)Gat>Cat p.D207H LUSC 16 74339345 74339345 + Missense_Mutation SNP T T A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr16:74339345T>A c.689T>A c.(688-690)cTg>cAg p.L230Q OV 16 74336158 74336158 + Missense_Mutation SNP G G A TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 g.chr16:74336158G>A c.406G>A c.(406-408)Gaa>Aaa p.E136K PRAD 16 74334038 74334038 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:74334038C>T c.100C>T c.(100-102)Cgt>Tgt p.R34C PRAD 16 74336163 74336163 + Silent SNP G G A TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 g.chr16:74336163G>A c.411G>A c.(409-411)gcG>gcA p.A137A SARC 16 74339214 74339214 + Silent SNP T T A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 g.chr16:74339214T>A c.558T>A c.(556-558)acT>acA p.T186T SKCM 16 74330842 74330842 + Silent SNP G G C TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr16:74330842G>C c.30G>C c.(28-30)gtG>gtC p.V10V SKCM 16 74335514 74335514 + Silent SNP C C A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr16:74335514C>A c.321C>A c.(319-321)gcC>gcA p.A107A SKCM 16 74336181 74336181 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr16:74336181A>C c.429A>C c.(427-429)gaA>gaC p.E143D

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 16 74339242 74339242 single base substitution C T 3_prime_UTR_variant BLCA-CN 16 74339242 74339242 single base substitution C T downstream_gene_variant BLCA-CN 16 74339242 74339242 single base substitution C T exon_variant BLCA-CN 16 74339242 74339242 single base substitution C T intron_variant BLCA-CN 16 74339242 74339242 single base substitution C T missense_variant H119Y 355C>T BLCA-CN 16 74339242 74339242 single base substitution C T missense_variant H196Y 586C>T BOCA-FR 16 74330390 74330390 single base substitution G C upstream_gene_variant BRCA-EU 16 74326909 74326909 single base substitution A T upstream_gene_variant BRCA-EU 16 74327656 74327656 single base substitution C T upstream_gene_variant BRCA-EU 16 74329802 74329802 single base substitution G A upstream_gene_variant BRCA-EU 16 74330758 74330758 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 16 74330758 74330758 single base substitution C A exon_variant BRCA-EU 16 74332697 74332697 single base substitution G C intron_variant BRCA-EU 16 74333198 74333198 single base substitution C T intron_variant BRCA-EU 16 74333198 74333198 single base substitution C T upstream_gene_variant BRCA-EU 16 74334558 74334558 single base substitution G C downstream_gene_variant BRCA-EU 16 74334558 74334558 single base substitution G C intron_variant BRCA-EU 16 74334558 74334558 single base substitution G C upstream_gene_variant BRCA-EU 16 74335041 74335041 single base substitution T A downstream_gene_variant BRCA-EU 16 74335041 74335041 single base substitution T A missense_variant N86K 258T>A BRCA-EU 16 74335041 74335041 single base substitution T A missense_variant N9K 27T>A BRCA-EU 16 74335041 74335041 single base substitution T A splice_region_variant BRCA-EU 16 74335041 74335041 single base substitution T A upstream_gene_variant BRCA-EU 16 74335936 74335936 single base substitution A G downstream_gene_variant BRCA-EU 16 74335936 74335936 single base substitution A G intron_variant BRCA-EU 16 74335936 74335936 single base substitution A G upstream_gene_variant BRCA-EU 16 74336762 74336762 single base substitution A C downstream_gene_variant BRCA-EU 16 74336762 74336762 single base substitution A C intron_variant BRCA-EU 16 74336762 74336762 single base substitution A C upstream_gene_variant BRCA-EU 16 74337076 74337076 single base substitution G C downstream_gene_variant BRCA-EU 16 74337076 74337076 single base substitution G C intron_variant BRCA-EU 16 74337076 74337076 single base substitution G C upstream_gene_variant BRCA-EU 16 74338749 74338749 single base substitution C G downstream_gene_variant BRCA-EU 16 74338749 74338749 single base substitution C G intron_variant BRCA-EU 16 74339447 74339447 single base substitution C T 3_prime_UTR_variant BRCA-EU 16 74339447 74339447 single base substitution C T downstream_gene_variant BRCA-EU 16 74339447 74339447 single base substitution C T exon_variant BRCA-EU 16 74339447 74339447 single base substitution C T missense_variant S187L 560C>T BRCA-EU 16 74339447 74339447 single base substitution C T missense_variant S264L 791C>T BRCA-EU 16 74342479 74342479 single base substitution G A downstream_gene_variant BRCA-EU 16 74343198 74343198 single base substitution G A downstream_gene_variant BRCA-EU 16 74343732 74343732 single base substitution G C downstream_gene_variant BRCA-FR 16 74327658 74327658 single base substitution C T upstream_gene_variant BRCA-FR 16 74332697 74332697 single base substitution G C intron_variant BRCA-FR 16 74337621 74337621 single base substitution A C downstream_gene_variant BRCA-FR 16 74337621 74337621 single base substitution A C intron_variant BRCA-FR 16 74337621 74337621 single base substitution A C upstream_gene_variant BRCA-FR 16 74338749 74338749 single base substitution C G downstream_gene_variant BRCA-FR 16 74338749 74338749 single base substitution C G intron_variant BRCA-FR 16 74339447 74339447 single base substitution C T 3_prime_UTR_variant BRCA-FR 16 74339447 74339447 single base substitution C T downstream_gene_variant BRCA-FR 16 74339447 74339447 single base substitution C T exon_variant BRCA-FR 16 74339447 74339447 single base substitution C T missense_variant S187L 560C>T BRCA-FR 16 74339447 74339447 single base substitution C T missense_variant S264L 791C>T BRCA-FR 16 74343732 74343732 single base substitution G C downstream_gene_variant BRCA-US 16 74334086 74334086 single base substitution G A 3_prime_UTR_variant BRCA-US 16 74334086 74334086 single base substitution G A 5_prime_UTR_variant BRCA-US 16 74334086 74334086 single base substitution G A exon_variant BRCA-US 16 74334086 74334086 single base substitution G A missense_variant V50I 148G>A BRCA-US 16 74334086 74334086 single base substitution G A upstream_gene_variant BTCA-JP 16 74338306 74338306 single base substitution A G 3_prime_UTR_variant BTCA-JP 16 74338306 74338306 single base substitution A G downstream_gene_variant BTCA-JP 16 74338306 74338306 single base substitution A G intron_variant COAD-US 16 74338233 74338233 single base substitution C T 3_prime_UTR_variant COAD-US 16 74338233 74338233 single base substitution C T downstream_gene_variant COAD-US 16 74338233 74338233 single base substitution C T exon_variant COAD-US 16 74338233 74338233 single base substitution C T synonymous_variant H157H 471C>T COAD-US 16 74338233 74338233 single base substitution C T synonymous_variant H80H 240C>T COCA-CN 16 74330835 74330835 single base substitution A C 5_prime_UTR_variant COCA-CN 16 74330835 74330835 single base substitution A C exon_variant COCA-CN 16 74330835 74330835 single base substitution A C missense_variant K8T 23A>C COCA-CN 16 74338157 74338157 single base substitution C T downstream_gene_variant COCA-CN 16 74338157 74338157 single base substitution C T exon_variant COCA-CN 16 74338157 74338157 single base substitution C T intron_variant ESAD-UK 16 74328236 74328236 single base substitution G A upstream_gene_variant ESAD-UK 16 74329073 74329073 single base substitution G C upstream_gene_variant ESAD-UK 16 74330351 74330351 single base substitution A C upstream_gene_variant ESAD-UK 16 74330593 74330593 single base substitution T C upstream_gene_variant ESAD-UK 16 74334935 74334935 single base substitution T C downstream_gene_variant ESAD-UK 16 74334935 74334935 single base substitution T C intron_variant ESAD-UK 16 74334935 74334935 single base substitution T C upstream_gene_variant ESAD-UK 16 74336010 74336010 single base substitution G A downstream_gene_variant ESAD-UK 16 74336010 74336010 single base substitution G A intron_variant ESAD-UK 16 74336010 74336010 single base substitution G A upstream_gene_variant ESAD-UK 16 74337393 74337393 single base substitution A G downstream_gene_variant ESAD-UK 16 74337393 74337393 single base substitution A G intron_variant ESAD-UK 16 74337393 74337393 single base substitution A G upstream_gene_variant ESAD-UK 16 74341817 74341817 single base substitution A G downstream_gene_variant ESAD-UK 16 74342298 74342298 insertion of <=200bp - AT downstream_gene_variant ESAD-UK 16 74343117 74343117 single base substitution A G downstream_gene_variant KIRC-US 16 74334042 74334042 single base substitution T G 3_prime_UTR_variant KIRC-US 16 74334042 74334042 single base substitution T G 5_prime_UTR_variant KIRC-US 16 74334042 74334042 single base substitution T G exon_variant KIRC-US 16 74334042 74334042 single base substitution T G missense_variant V35G 104T>G KIRC-US 16 74334042 74334042 single base substitution T G upstream_gene_variant LICA-FR 16 74330339 74330339 single base substitution T C upstream_gene_variant LICA-FR 16 74331591 74331591 single base substitution A T intron_variant LICA-FR 16 74331969 74331969 single base substitution T C intron_variant LICA-FR 16 74339471 74339471 single base substitution T G 3_prime_UTR_variant LICA-FR 16 74339471 74339471 single base substitution T G downstream_gene_variant LICA-FR 16 74339471 74339471 single base substitution T G exon_variant LICA-FR 16 74339471 74339471 single base substitution T G missense_variant L195R 584T>G LICA-FR 16 74339471 74339471 single base substitution T G missense_variant L272R 815T>G LICA-FR 16 74340539 74340539 single base substitution A G downstream_gene_variant LICA-FR 16 74340624 74340624 single base substitution A G downstream_gene_variant LINC-JP 16 74333982 74333982 single base substitution A G intron_variant LINC-JP 16 74333982 74333982 single base substitution A G upstream_gene_variant LINC-JP 16 74339020 74339020 single base substitution T G downstream_gene_variant LINC-JP 16 74339020 74339020 single base substitution T G intron_variant LINC-JP 16 74339460 74339460 single base substitution C T 3_prime_UTR_variant LINC-JP 16 74339460 74339460 single base substitution C T downstream_gene_variant LINC-JP 16 74339460 74339460 single base substitution C T exon_variant LINC-JP 16 74339460 74339460 single base substitution C T synonymous_variant S191S 573C>T LINC-JP 16 74339460 74339460 single base substitution C T synonymous_variant S268S 804C>T LIRI-JP 16 74329348 74329348 single base substitution T C upstream_gene_variant LIRI-JP 16 74329456 74329456 single base substitution C G upstream_gene_variant LIRI-JP 16 74329540 74329540 single base substitution G A upstream_gene_variant LIRI-JP 16 74331380 74331380 single base substitution C A intron_variant LIRI-JP 16 74332535 74332535 single base substitution C T intron_variant LIRI-JP 16 74333492 74333492 single base substitution A C 5_prime_UTR_variant LIRI-JP 16 74333492 74333492 single base substitution A C exon_variant LIRI-JP 16 74333492 74333492 single base substitution A C intron_variant LIRI-JP 16 74333492 74333492 single base substitution A C upstream_gene_variant LIRI-JP 16 74335190 74335190 single base substitution A T downstream_gene_variant LIRI-JP 16 74335190 74335190 single base substitution A T intron_variant LIRI-JP 16 74335190 74335190 single base substitution A T upstream_gene_variant LIRI-JP 16 74336512 74336512 single base substitution A G downstream_gene_variant LIRI-JP 16 74336512 74336512 single base substitution A G intron_variant LIRI-JP 16 74336512 74336512 single base substitution A G upstream_gene_variant LIRI-JP 16 74336779 74336779 single base substitution G A downstream_gene_variant LIRI-JP 16 74336779 74336779 single base substitution G A intron_variant LIRI-JP 16 74336779 74336779 single base substitution G A upstream_gene_variant LIRI-JP 16 74339949 74339949 single base substitution A C 3_prime_UTR_variant LIRI-JP 16 74339949 74339949 single base substitution A C downstream_gene_variant LIRI-JP 16 74341370 74341370 insertion of <=200bp - TAGGAAAT downstream_gene_variant LIRI-JP 16 74343369 74343369 single base substitution T C downstream_gene_variant LIRI-JP 16 74345080 74345080 single base substitution T C downstream_gene_variant LUSC-KR 16 74325919 74325919 single base substitution A C upstream_gene_variant LUSC-KR 16 74327345 74327345 single base substitution G T upstream_gene_variant LUSC-KR 16 74340254 74340254 single base substitution C G downstream_gene_variant LUSC-KR 16 74340359 74340359 single base substitution C A downstream_gene_variant LUSC-KR 16 74344775 74344775 single base substitution G A downstream_gene_variant LUSC-US 16 74338292 74338292 single base substitution G A downstream_gene_variant LUSC-US 16 74338292 74338292 single base substitution G A missense_variant R100Q 299G>A LUSC-US 16 74338292 74338292 single base substitution G A missense_variant R177H 530G>A LUSC-US 16 74338292 74338292 single base substitution G A missense_variant R177Q 530G>A LUSC-US 16 74338292 74338292 single base substitution G A splice_region_variant LUSC-US 16 74339275 74339275 single base substitution G C 3_prime_UTR_variant LUSC-US 16 74339275 74339275 single base substitution G C downstream_gene_variant LUSC-US 16 74339275 74339275 single base substitution G C exon_variant LUSC-US 16 74339275 74339275 single base substitution G C intron_variant LUSC-US 16 74339275 74339275 single base substitution G C missense_variant D130H 388G>C LUSC-US 16 74339275 74339275 single base substitution G C missense_variant D207H 619G>C LUSC-US 16 74339345 74339345 single base substitution T A 3_prime_UTR_variant LUSC-US 16 74339345 74339345 single base substitution T A downstream_gene_variant LUSC-US 16 74339345 74339345 single base substitution T A exon_variant LUSC-US 16 74339345 74339345 single base substitution T A missense_variant C178S 532T>A LUSC-US 16 74339345 74339345 single base substitution T A missense_variant L153Q 458T>A LUSC-US 16 74339345 74339345 single base substitution T A missense_variant L230Q 689T>A MALY-DE 16 74328364 74328364 single base substitution C A upstream_gene_variant MALY-DE 16 74328617 74328617 single base substitution T C upstream_gene_variant MALY-DE 16 74341927 74341927 single base substitution G T downstream_gene_variant MELA-AU 16 74325690 74325690 single base substitution G A upstream_gene_variant MELA-AU 16 74326412 74326412 single base substitution C T upstream_gene_variant MELA-AU 16 74327067 74327067 single base substitution G A upstream_gene_variant MELA-AU 16 74327419 74327419 single base substitution G A upstream_gene_variant MELA-AU 16 74327694 74327694 single base substitution G A upstream_gene_variant MELA-AU 16 74327775 74327775 single base substitution G A upstream_gene_variant MELA-AU 16 74327968 74327968 single base substitution G A upstream_gene_variant MELA-AU 16 74328870 74328870 single base substitution G A upstream_gene_variant MELA-AU 16 74329310 74329310 single base substitution G A upstream_gene_variant MELA-AU 16 74329636 74329636 single base substitution C T upstream_gene_variant MELA-AU 16 74329646 74329646 single base substitution C T upstream_gene_variant MELA-AU 16 74329889 74329889 single base substitution G A upstream_gene_variant MELA-AU 16 74329981 74329981 single base substitution A G upstream_gene_variant MELA-AU 16 74330236 74330236 single base substitution C G upstream_gene_variant MELA-AU 16 74330544 74330544 single base substitution C T upstream_gene_variant MELA-AU 16 74330683 74330683 single base substitution G A 5_prime_UTR_variant MELA-AU 16 74330683 74330683 single base substitution G A upstream_gene_variant MELA-AU 16 74330712 74330713 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 16 74330712 74330713 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 74330713 74330713 single base substitution G A 5_prime_UTR_variant MELA-AU 16 74330713 74330713 single base substitution G A exon_variant MELA-AU 16 74330713 74330713 single base substitution G A upstream_gene_variant MELA-AU 16 74330716 74330716 single base substitution G A 5_prime_UTR_variant MELA-AU 16 74330716 74330716 single base substitution G A exon_variant MELA-AU 16 74330716 74330716 single base substitution G A upstream_gene_variant MELA-AU 16 74331272 74331272 single base substitution C T intron_variant MELA-AU 16 74331604 74331604 single base substitution C T intron_variant MELA-AU 16 74332903 74332903 single base substitution C A intron_variant MELA-AU 16 74332903 74332903 single base substitution C A upstream_gene_variant MELA-AU 16 74333586 74333586 single base substitution C T 3_prime_UTR_variant MELA-AU 16 74333586 74333586 single base substitution C T 5_prime_UTR_variant MELA-AU 16 74333586 74333586 single base substitution C T intron_variant MELA-AU 16 74333586 74333586 single base substitution C T upstream_gene_variant MELA-AU 16 74336233 74336233 single base substitution T C downstream_gene_variant MELA-AU 16 74336233 74336233 single base substitution T C intron_variant MELA-AU 16 74336233 74336233 single base substitution T C upstream_gene_variant MELA-AU 16 74336511 74336511 single base substitution C T downstream_gene_variant MELA-AU 16 74336511 74336511 single base substitution C T intron_variant MELA-AU 16 74336511 74336511 single base substitution C T upstream_gene_variant MELA-AU 16 74343350 74343350 single base substitution G A downstream_gene_variant MELA-AU 16 74343727 74343727 single base substitution G A downstream_gene_variant MELA-AU 16 74344488 74344488 single base substitution C T downstream_gene_variant MELA-AU 16 74345184 74345184 single base substitution G A downstream_gene_variant ORCA-IN 16 74341940 74341940 single base substitution T A downstream_gene_variant OV-AU 16 74327933 74327933 single base substitution G A upstream_gene_variant OV-AU 16 74335729 74335729 single base substitution G A downstream_gene_variant OV-AU 16 74335729 74335729 single base substitution G A intron_variant OV-AU 16 74335729 74335729 single base substitution G A upstream_gene_variant OV-AU 16 74339816 74339816 single base substitution G A 3_prime_UTR_variant OV-AU 16 74339816 74339816 single base substitution G A downstream_gene_variant PACA-CA 16 74333838 74333838 single base substitution G A intron_variant PACA-CA 16 74333838 74333838 single base substitution G A upstream_gene_variant PACA-CA 16 74335775 74335775 single base substitution G A downstream_gene_variant PACA-CA 16 74335775 74335775 single base substitution G A intron_variant PACA-CA 16 74335775 74335775 single base substitution G A upstream_gene_variant PACA-CA 16 74339461 74339461 single base substitution G A 3_prime_UTR_variant PACA-CA 16 74339461 74339461 single base substitution G A downstream_gene_variant PACA-CA 16 74339461 74339461 single base substitution G A exon_variant PACA-CA 16 74339461 74339461 single base substitution G A missense_variant V192M 574G>A PACA-CA 16 74339461 74339461 single base substitution G A missense_variant V269M 805G>A PACA-CA 16 74344375 74344375 single base substitution G T downstream_gene_variant PBCA-DE 16 74326560 74326560 insertion of <=200bp - T upstream_gene_variant PBCA-DE 16 74334445 74334445 single base substitution C T downstream_gene_variant PBCA-DE 16 74334445 74334445 single base substitution C T intron_variant PBCA-DE 16 74334445 74334445 single base substitution C T upstream_gene_variant PRAD-UK 16 74330439 74330439 single base substitution T G upstream_gene_variant PRAD-UK 16 74337347 74337347 single base substitution T G downstream_gene_variant PRAD-UK 16 74337347 74337347 single base substitution T G intron_variant PRAD-UK 16 74337347 74337347 single base substitution T G upstream_gene_variant PRAD-US 16 74336163 74336163 single base substitution G A 3_prime_UTR_variant PRAD-US 16 74336163 74336163 single base substitution G A downstream_gene_variant PRAD-US 16 74336163 74336163 single base substitution G A synonymous_variant A137A 411G>A PRAD-US 16 74336163 74336163 single base substitution G A synonymous_variant A60A 180G>A PRAD-US 16 74336163 74336163 single base substitution G A upstream_gene_variant READ-US 16 74339301 74339301 single base substitution C T 3_prime_UTR_variant READ-US 16 74339301 74339301 single base substitution C T downstream_gene_variant READ-US 16 74339301 74339301 single base substitution C T exon_variant READ-US 16 74339301 74339301 single base substitution C T intron_variant READ-US 16 74339301 74339301 single base substitution C T synonymous_variant V138V 414C>T READ-US 16 74339301 74339301 single base substitution C T synonymous_variant V215V 645C>T RECA-EU 16 74327970 74327970 single base substitution T A upstream_gene_variant RECA-EU 16 74329432 74329432 single base substitution A C upstream_gene_variant RECA-EU 16 74333929 74333929 single base substitution T C intron_variant RECA-EU 16 74333929 74333929 single base substitution T C upstream_gene_variant RECA-EU 16 74338254 74338254 single base substitution A G 3_prime_UTR_variant RECA-EU 16 74338254 74338254 single base substitution A G downstream_gene_variant RECA-EU 16 74338254 74338254 single base substitution A G exon_variant RECA-EU 16 74338254 74338254 single base substitution A G synonymous_variant A164A 492A>G RECA-EU 16 74338254 74338254 single base substitution A G synonymous_variant A87A 261A>G RECA-EU 16 74343395 74343395 single base substitution A C downstream_gene_variant SKCA-BR 16 74325763 74325763 single base substitution A G upstream_gene_variant SKCA-BR 16 74330452 74330452 single base substitution T G upstream_gene_variant SKCA-BR 16 74331789 74331789 single base substitution C T intron_variant SKCA-BR 16 74332883 74332883 single base substitution G A intron_variant SKCA-BR 16 74333344 74333344 single base substitution T A intron_variant SKCA-BR 16 74333344 74333344 single base substitution T A upstream_gene_variant SKCA-BR 16 74335886 74335886 single base substitution C T downstream_gene_variant SKCA-BR 16 74335886 74335886 single base substitution C T intron_variant SKCA-BR 16 74335886 74335886 single base substitution C T upstream_gene_variant SKCA-BR 16 74343525 74343525 single base substitution T A downstream_gene_variant SKCM-US 16 74330842 74330842 single base substitution G C 5_prime_UTR_variant SKCM-US 16 74330842 74330842 single base substitution G C exon_variant SKCM-US 16 74330842 74330842 single base substitution G C synonymous_variant V10V 30G>C SKCM-US 16 74336181 74336181 single base substitution A C 3_prime_UTR_variant SKCM-US 16 74336181 74336181 single base substitution A C downstream_gene_variant SKCM-US 16 74336181 74336181 single base substitution A C missense_variant E143D 429A>C SKCM-US 16 74336181 74336181 single base substitution A C missense_variant E66D 198A>C SKCM-US 16 74336181 74336181 single base substitution A C upstream_gene_variant STAD-US 16 74330861 74330861 single base substitution C T 5_prime_UTR_variant STAD-US 16 74330861 74330861 single base substitution C T exon_variant STAD-US 16 74330861 74330861 single base substitution C T missense_variant L17F 49C>T STAD-US 16 74334090 74334090 single base substitution C T 3_prime_UTR_variant STAD-US 16 74334090 74334090 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant STAD-US 16 74334090 74334090 single base substitution C T exon_variant STAD-US 16 74334090 74334090 single base substitution C T missense_variant S51L 152C>T STAD-US 16 74334090 74334090 single base substitution C T upstream_gene_variant STAD-US 16 74334988 74334988 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 16 74334988 74334988 deletion of <=200bp T - 5_prime_UTR_variant STAD-US 16 74334988 74334988 deletion of <=200bp T - downstream_gene_variant STAD-US 16 74334988 74334988 deletion of <=200bp T - frameshift_variant F69 STAD-US 16 74334988 74334988 deletion of <=200bp T - upstream_gene_variant STAD-US 16 74335456 74335456 insertion of <=200bp - G 3_prime_UTR_variant STAD-US 16 74335456 74335456 insertion of <=200bp - G downstream_gene_variant STAD-US 16 74335456 74335456 insertion of <=200bp - G frameshift_variant R11R? STAD-US 16 74335456 74335456 insertion of <=200bp - G frameshift_variant R88R? STAD-US 16 74335456 74335456 insertion of <=200bp - G upstream_gene_variant STAD-US 16 74339301 74339301 single base substitution C T 3_prime_UTR_variant STAD-US 16 74339301 74339301 single base substitution C T downstream_gene_variant STAD-US 16 74339301 74339301 single base substitution C T exon_variant STAD-US 16 74339301 74339301 single base substitution C T intron_variant STAD-US 16 74339301 74339301 single base substitution C T synonymous_variant V138V 414C>T STAD-US 16 74339301 74339301 single base substitution C T synonymous_variant V215V 645C>T UCEC-US 16 74334017 74334017 single base substitution G A 3_prime_UTR_variant UCEC-US 16 74334017 74334017 single base substitution G A 5_prime_UTR_variant UCEC-US 16 74334017 74334017 single base substitution G A exon_variant UCEC-US 16 74334017 74334017 single base substitution G A missense_variant G27S 79G>A UCEC-US 16 74334017 74334017 single base substitution G A upstream_gene_variant UCEC-US 16 74334091 74334091 single base substitution G A 3_prime_UTR_variant UCEC-US 16 74334091 74334091 single base substitution G A 5_prime_UTR_variant UCEC-US 16 74334091 74334091 single base substitution G A exon_variant UCEC-US 16 74334091 74334091 single base substitution G A synonymous_variant S51S 153G>A UCEC-US 16 74334091 74334091 single base substitution G A upstream_gene_variant UCEC-US 16 74334950 74334950 single base substitution T C downstream_gene_variant UCEC-US 16 74334950 74334950 single base substitution T C missense_variant V56A 167T>C UCEC-US 16 74334950 74334950 single base substitution T C splice_region_variant UCEC-US 16 74334950 74334950 single base substitution T C upstream_gene_variant UCEC-US 16 74338218 74338218 single base substitution G A 3_prime_UTR_variant UCEC-US 16 74338218 74338218 single base substitution G A downstream_gene_variant UCEC-US 16 74338218 74338218 single base substitution G A exon_variant UCEC-US 16 74338218 74338218 single base substitution G A synonymous_variant S152S 456G>A UCEC-US 16 74338218 74338218 single base substitution G A synonymous_variant S75S 225G>A UCEC-US 16 74338294 74338294 single base substitution T C downstream_gene_variant UCEC-US 16 74338294 74338294 single base substitution T C splice_donor_variant UCEC-US 16 74338294 74338294 single base substitution T C stop_lost *178R 532T>C UCEC-US 16 74339317 74339317 single base substitution C T 3_prime_UTR_variant UCEC-US 16 74339317 74339317 single base substitution C T downstream_gene_variant UCEC-US 16 74339317 74339317 single base substitution C T exon_variant UCEC-US 16 74339317 74339317 single base substitution C T intron_variant UCEC-US 16 74339317 74339317 single base substitution C T missense_variant P144S 430C>T UCEC-US 16 74339317 74339317 single base substitution C T missense_variant P221S 661C>T UCEC-US 16 74339547 74339547 single base substitution A C 3_prime_UTR_variant UCEC-US 16 74339547 74339547 single base substitution A C downstream_gene_variant UCEC-US 16 74339547 74339547 single base substitution A C missense_variant K220N 660A>C UCEC-US 16 74339547 74339547 single base substitution A C missense_variant K297N 891A>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand C0021T COSM4151406 c.492A>G p.A164A Substitution - coding silent 16:74304356-74304356 + TCGA-BR-4361-01 COSM4062757 c.49C>T p.L17F Substitution - Missense 16:74296963-74296963 + YUKAT COSM5385371 c.395G>A p.G132E Substitution - Missense 16:74302249-74302249 + TCGA-BP-4164-01 COSM1135826 c.380A>G p.K127R Substitution - Missense 16:74302234-74302234 + sysucc-783T COSM5484047 c.23A>C p.K8T Substitution - Missense 16:74296937-74296937 + HCT-15 COSM1679267 c.35A>G p.H12R Substitution - Missense 16:74296949-74296949 + TCGA-22-5473-01 COSM704160 c.689T>A p.L230Q Substitution - Missense 16:74305447-74305447 + TCGA-AD-5900-01 COSM1379746 c.471C>T p.H157H Substitution - coding silent 16:74304335-74304335 + TCGA-AP-A0LI-01 COSM973600 c.508G>C p.V170L Substitution - Missense 16:74304372-74304372 + CHC1209T COSM4804673 c.815T>G p.L272R Substitution - Missense 16:74305573-74305573 + PD14462a COSM5773727 c.258T>A p.N86K Substitution - Missense 16:74301143-74301143 + YUKAT COSM5385373 c.931G>A p.E311K Substitution - Missense 16:74305689-74305689 + EV001-R3 COSM1161902 c.357+1G>A p.? Unknown 16:74301653-74301653 + SA208 COSM213805 c.559C>A p.L187M Substitution - Missense 16:74305317-74305317 + TCGA-A5-A0G9-01 COSM973603 c.705C>T p.N235N Substitution - coding silent 16:74305463-74305463 + T2269 COSM195779 c.735C>T p.F245F Substitution - coding silent 16:74305493-74305493 + HCT15 COSM1679267 c.35A>G p.H12R Substitution - Missense 16:74296949-74296949 + 001 COSM1161902 c.357+1G>A p.? Unknown 16:74301653-74301653 + RKO COSM4647961 c.768G>C p.Q256H Substitution - Missense 16:74305526-74305526 + ESCC_114 COSM5639664 c.603G>A p.L201L Substitution - coding silent 16:74305361-74305361 + TCGA-BR-6452-01 COSM4062758 c.152C>T p.S51L Substitution - Missense 16:74300192-74300192 + CSCC-10-T COSM4558141 c.756G>A p.K252K Substitution - coding silent 16:74305514-74305514 + TCGA-AR-A1AI-01 COSM435766 c.148G>A p.V50I Substitution - Missense 16:74300188-74300188 + TCGA-BS-A0UF-01 COSM973598 c.167T>C p.V56A Substitution - Missense 16:74301052-74301052 + TCGA-G9-6336-01 COSM1128885 c.411G>A p.A137A Substitution - coding silent 16:74302265-74302265 + U2940 COSM5621619 c.907G>A p.D303N Substitution - Missense 16:74305665-74305665 + TCGA-AP-A0LP-01 COSM973596 c.79G>A p.G27S Substitution - Missense 16:74300119-74300119 + B84 COSM1749777 c.586C>T p.H196Y Substitution - Missense 16:74305344-74305344 + EV001-R2 COSM1161902 c.357+1G>A p.? Unknown 16:74301653-74301653 + TCGA-AP-A0LM-01 COSM973602 c.661C>T p.P221S Substitution - Missense 16:74305419-74305419 + TCGA-AX-A05Z-01 COSM973597 c.153G>A p.S51S Substitution - coding silent 16:74300193-74300193 + CSCC-32-T COSM4471288 c.170C>T p.P57L Substitution - Missense 16:74301055-74301055 + EV001-R8 COSM1161902 c.357+1G>A p.? Unknown 16:74301653-74301653 + BN24 COSM1609653 c.804C>T p.S268S Substitution - coding silent 16:74305562-74305562 + TCGA-AA-3975-01 COSM297455 c.953_961delAGGAGAAAA p.E322_K324delEKK Deletion - In frame 16:74305711-74305719 + YUKAT COSM5385372 c.898A>G p.R300G Substitution - Missense 16:74305656-74305656 + Gp2D COSM2690568 c.971A>G p.K324R Substitution - Missense 16:74305729-74305729 + TCGA-AK-3460-01 COSM3361893 c.104T>G p.V35G Substitution - Missense 16:74300144-74300144 + TK10 COSM1679268 c.814C>A p.L272M Substitution - Missense 16:74305572-74305572 + TCGA-BR-4363-01 COSM3421156 c.645C>T p.V215V Substitution - coding silent 16:74305403-74305403 + TCGA-BS-A0UF-01 COSM973604 c.891A>C p.K297N Substitution - Missense 16:74305649-74305649 + TCGA-EE-A2A2-06 COSM3512121 c.30G>C p.V10V Substitution - coding silent 16:74296944-74296944 + TCGA-D1-A16X-01 COSM973597 c.153G>A p.S51S Substitution - coding silent 16:74300193-74300193 + B84-Tumor COSM1749777 c.586C>T p.H196Y Substitution - Missense 16:74305344-74305344 + EV001-R1 COSM1161902 c.357+1G>A p.? Unknown 16:74301653-74301653 + EV001-R9 COSM1161902 c.357+1G>A p.? Unknown 16:74301653-74301653 + B104-0 COSM1749776 c.69C>A p.F23L Substitution - Missense 16:74296983-74296983 + 081T COSM1730821 c.236A>G p.Y79C Substitution - Missense 16:74301121-74301121 + 420 COSM4432053 c.518A>G p.E173G Substitution - Missense 16:74304382-74304382 + Pat_44_B COSM5851468 c.410C>T p.A137V Substitution - Missense 16:74302264-74302264 + TCGA-D9-A6EC-06 COSM4402233 c.429A>C p.E143D Substitution - Missense 16:74302283-74302283 + TCGA-66-2763-01 COSM704162 c.530G>A p.R177Q Substitution - Missense 16:74304394-74304394 + PCSI_0312_Pa_P_526 COSM3787225 c.805G>A p.V269M Substitution - Missense 16:74305563-74305563 + TCGA-61-1900-01 COSM1324273 c.406G>A p.E136K Substitution - Missense 16:74302260-74302260 + DLD1 COSM1679267 c.35A>G p.H12R Substitution - Missense 16:74296949-74296949 + TCGA-EI-6917-01 COSM3421156 c.645C>T p.V215V Substitution - coding silent 16:74305403-74305403 + EV001-R5 COSM1161902 c.357+1G>A p.? Unknown 16:74301653-74301653 + CHC1209T COSM4804673 c.815T>G p.L272R Substitution - Missense 16:74305573-74305573 + TCGA-AP-A056-01 COSM973599 c.456G>A p.S152S Substitution - coding silent 16:74304320-74304320 + BN24T COSM1609653 c.804C>T p.S268S Substitution - coding silent 16:74305562-74305562 + TCGA-66-2758-01 COSM704161 c.619G>C p.D207H Substitution - Missense 16:74305377-74305377 + TCGA-DI-A0WH-01 COSM973601 c.530+2T>C p.? Unknown 16:74304396-74304396 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.440604 16q22.3 157970

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AGGAGAAAA - InFrameDeletion p.K321_K323delKEK c.964_972delGAGAAAAAG 16 74339609 COREAD C A Missense p.L187M c.559C>A 16 74339215 BRCA C T Synonymous p.V215V c.645C>T 16 74339301 STAD G A 5-UTRSNV . c.1-133G>A 16 74330680 CM G A 5-UTRSNV . c.1-1G>A 16 74330812 CM G A Missense p.G27S c.79G>A 16 74334017 UCEC G A Missense p.G37S c.109G>A 16 74334047 STAD G A Missense p.R177Q c.530G>A 16 74338292 LUSC G A Missense p.V50I c.148G>A 16 74334086 BRCA G A Synonymous p.A137A c.411G>A 16 74336163 PRAD G C Missense p.D207H c.619G>C 16 74339275 LUSC G C Synonymous p.V10V c.30G>C 16 74330842 CM G T Missense p.M112I c.336G>T 16 74335529 CM T A Missense p.L230Q c.689T>A 16 74339345 LUSC T A Missense p.V144D c.431T>A 16 74336183 LUAD T C Missense p.Y79H c.235T>C 16 74335018 CM T C SpliceDonorSNV . c.530+2T>C 16 74338294 UCEC T G Missense p.V35G c.104T>G 16 74334042 RCCC