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 67695000 67695000 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 g.chr16:67695000G>C c.59G>C c.(58-60)aGc>aCc p.S20T BLCA 16 67695381 67695381 + Missense_Mutation SNP C C A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 g.chr16:67695381C>A c.87C>A c.(85-87)ttC>ttA p.F29L BLCA 16 67695398 67695398 + Nonsense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 g.chr16:67695398C>A c.104C>A c.(103-105)tCg>tAg p.S35* BLCA 16 67695399 67695399 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 g.chr16:67695399G>A c.105G>A c.(103-105)tcG>tcA p.S35S BLCA 16 67696109 67696109 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 g.chr16:67696109G>C c.600G>C c.(598-600)ggG>ggC p.G200G BLCA 16 67696116 67696116 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 g.chr16:67696116G>A c.607G>A c.(607-609)Gct>Act p.A203T BLCA 16 67696119 67696119 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 g.chr16:67696119G>A c.610G>A c.(610-612)Gag>Aag p.E204K BLCA 16 67696156 67696156 + Missense_Mutation SNP T T C TCGA-K4-A5RI-01A-11D-A289-08 TCGA-K4-A5RI-10A-01D-A289-08 g.chr16:67696156T>C c.647T>C c.(646-648)cTc>cCc p.L216P BLCA 16 67696371 67696371 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 g.chr16:67696371G>A c.862G>A c.(862-864)Gag>Aag p.E288K BLCA 16 67696467 67696467 + Silent SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 g.chr16:67696467C>T c.958C>T c.(958-960)Ctg>Ttg p.L320L BRCA 16 67695950 67695950 + Silent SNP C C T TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 g.chr16:67695950C>T c.441C>T c.(439-441)gaC>gaT p.D147D BRCA 16 67696312 67696312 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr16:67696312C>G c.803C>G c.(802-804)tCt>tGt p.S268C CESC 16 67696338 67696338 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr16:67696338G>C c.829G>C c.(829-831)Gat>Cat p.D277H COAD 16 67696271 67696271 + Silent SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr16:67696271C>T c.762C>T c.(760-762)aaC>aaT p.N254N COAD 16 67696293 67696293 + Missense_Mutation SNP C C T TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr16:67696293C>T c.784C>T c.(784-786)Cgt>Tgt p.R262C COADREAD 16 67696050 67696050 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr16:67696050G>A c.541G>A c.(541-543)Gtg>Atg p.V181M COADREAD 16 67696271 67696271 + Silent SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr16:67696271C>T c.762C>T c.(760-762)aaC>aaT p.N254N COADREAD 16 67696293 67696293 + Missense_Mutation SNP C C T TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr16:67696293C>T c.784C>T c.(784-786)Cgt>Tgt p.R262C ESCA 16 67695843 67695843 + Missense_Mutation SNP C C T TCGA-V5-AASW-01A-11D-A403-09 TCGA-V5-AASW-10A-01D-A403-09 g.chr16:67695843C>T c.334C>T c.(334-336)Cgg>Tgg p.R112W GBMLGG 16 67696030 67696030 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:67696030G>A c.521G>A c.(520-522)cGa>cAa p.R174Q LGG 16 67696030 67696030 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:67696030G>A c.521G>A c.(520-522)cGa>cAa p.R174Q LUAD 16 67695394 67695394 + Missense_Mutation SNP G G T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 g.chr16:67695394G>T c.100G>T c.(100-102)Gct>Tct p.A34S LUSC 16 67695950 67695950 + Missense_Mutation SNP C C G TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 g.chr16:67695950C>G c.441C>G c.(439-441)gaC>gaG p.D147E OV 16 67696293 67696293 + Missense_Mutation SNP C C T TCGA-13-1505-01A-01D-0472-08 TCGA-13-1505-10A-01D-0472-08 g.chr16:67696293C>T c.784C>T c.(784-786)Cgt>Tgt p.R262C PAAD 16 67695975 67695975 + Nonsense_Mutation SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 g.chr16:67695975C>T c.466C>T c.(466-468)Cga>Tga p.R156* PRAD 16 67694962 67694962 + Silent SNP T T C TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 g.chr16:67694962T>C c.21T>C c.(19-21)acT>acC p.T7T READ 16 67696050 67696050 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr16:67696050G>A c.541G>A c.(541-543)Gtg>Atg p.V181M SKCM 16 67696356 67696356 + Missense_Mutation SNP A A C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr16:67696356A>C c.847A>C c.(847-849)Agt>Cgt p.S283R

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 67692007 67692007 single base substitution G A upstream_gene_variant BLCA-CN 16 67692063 67692063 single base substitution G A upstream_gene_variant BLCA-CN 16 67692100 67692100 single base substitution T G upstream_gene_variant BLCA-CN 16 67693685 67693685 single base substitution A C upstream_gene_variant BLCA-CN 16 67694295 67694295 single base substitution C T upstream_gene_variant BLCA-US 16 67691914 67691914 single base substitution C T upstream_gene_variant BLCA-US 16 67692069 67692069 single base substitution C T upstream_gene_variant BLCA-US 16 67692470 67692470 single base substitution G T upstream_gene_variant BLCA-US 16 67693135 67693135 single base substitution C T upstream_gene_variant BLCA-US 16 67694244 67694244 single base substitution A G upstream_gene_variant BLCA-US 16 67695381 67695381 single base substitution C A exon_variant BLCA-US 16 67695381 67695381 single base substitution C A missense_variant F29L 87C>A BLCA-US 16 67695398 67695398 single base substitution C A exon_variant BLCA-US 16 67695398 67695398 single base substitution C A stop_gained S35* 104C>A BLCA-US 16 67695399 67695399 single base substitution G A exon_variant BLCA-US 16 67695399 67695399 single base substitution G A synonymous_variant S35S 105G>A BLCA-US 16 67696109 67696109 single base substitution G C exon_variant BLCA-US 16 67696109 67696109 single base substitution G C synonymous_variant G170G 510G>C BLCA-US 16 67696109 67696109 single base substitution G C synonymous_variant G199G 597G>C BLCA-US 16 67696109 67696109 single base substitution G C synonymous_variant G200G 600G>C BLCA-US 16 67696116 67696116 single base substitution G A exon_variant BLCA-US 16 67696116 67696116 single base substitution G A missense_variant A173T 517G>A BLCA-US 16 67696116 67696116 single base substitution G A missense_variant A202T 604G>A BLCA-US 16 67696116 67696116 single base substitution G A missense_variant A203T 607G>A BLCA-US 16 67696467 67696467 single base substitution C T exon_variant BLCA-US 16 67696467 67696467 single base substitution C T synonymous_variant L290L 868C>T BLCA-US 16 67696467 67696467 single base substitution C T synonymous_variant L319L 955C>T BLCA-US 16 67696467 67696467 single base substitution C T synonymous_variant L320L 958C>T BOCA-FR 16 67694316 67694316 single base substitution C T upstream_gene_variant BOCA-FR 16 67696105 67696105 single base substitution G A exon_variant BOCA-FR 16 67696105 67696105 single base substitution G A missense_variant R169H 506G>A BOCA-FR 16 67696105 67696105 single base substitution G A missense_variant R198H 593G>A BOCA-FR 16 67696105 67696105 single base substitution G A missense_variant R199H 596G>A BRCA-EU 16 67690412 67690412 single base substitution C G upstream_gene_variant BRCA-EU 16 67690760 67690760 single base substitution G C upstream_gene_variant BRCA-EU 16 67691443 67691443 single base substitution G A upstream_gene_variant BRCA-EU 16 67692973 67692973 deletion of <=200bp A - upstream_gene_variant BRCA-EU 16 67694794 67694794 single base substitution C T upstream_gene_variant BRCA-EU 16 67695466 67695466 single base substitution C G exon_variant BRCA-EU 16 67695466 67695466 single base substitution C G missense_variant L58V 172C>G BRCA-EU 16 67696920 67696920 single base substitution A C downstream_gene_variant BRCA-EU 16 67698184 67698184 single base substitution C T downstream_gene_variant BRCA-EU 16 67699615 67699615 single base substitution C T downstream_gene_variant BRCA-EU 16 67699620 67699620 single base substitution C A downstream_gene_variant BRCA-EU 16 67699675 67699675 single base substitution C T downstream_gene_variant BRCA-EU 16 67699699 67699699 single base substitution C G downstream_gene_variant BRCA-EU 16 67700028 67700028 single base substitution C T downstream_gene_variant BRCA-EU 16 67701363 67701363 single base substitution G C downstream_gene_variant BRCA-EU 16 67701431 67701431 single base substitution G A downstream_gene_variant BRCA-FR 16 67690771 67690771 single base substitution C G upstream_gene_variant BRCA-FR 16 67699675 67699675 single base substitution C T downstream_gene_variant BRCA-FR 16 67700028 67700028 single base substitution C T downstream_gene_variant BRCA-KR 16 67695381 67695381 single base substitution C T exon_variant BRCA-KR 16 67695381 67695381 single base substitution C T synonymous_variant F29F 87C>T BRCA-UK 16 67697149 67697149 single base substitution G C downstream_gene_variant BRCA-US 16 67694153 67694153 single base substitution G C upstream_gene_variant BRCA-US 16 67695950 67695950 single base substitution C T exon_variant BRCA-US 16 67695950 67695950 single base substitution C T synonymous_variant D117D 351C>T BRCA-US 16 67695950 67695950 single base substitution C T synonymous_variant D146D 438C>T BRCA-US 16 67695950 67695950 single base substitution C T synonymous_variant D147D 441C>T BRCA-US 16 67696312 67696312 single base substitution C G exon_variant BRCA-US 16 67696312 67696312 single base substitution C G missense_variant S238C 713C>G BRCA-US 16 67696312 67696312 single base substitution C G missense_variant S267C 800C>G BRCA-US 16 67696312 67696312 single base substitution C G missense_variant S268C 803C>G BRCA-US 16 67697208 67697208 single base substitution C A downstream_gene_variant BRCA-US 16 67697662 67697662 insertion of <=200bp - G downstream_gene_variant BTCA-JP 16 67695093 67695093 single base substitution C G intron_variant BTCA-JP 16 67695093 67695093 single base substitution C G upstream_gene_variant BTCA-JP 16 67696277 67696277 single base substitution G A exon_variant BTCA-JP 16 67696277 67696277 single base substitution G A synonymous_variant V226V 678G>A BTCA-JP 16 67696277 67696277 single base substitution G A synonymous_variant V255V 765G>A BTCA-JP 16 67696277 67696277 single base substitution G A synonymous_variant V256V 768G>A BTCA-JP 16 67701433 67701433 deletion of <=200bp G - downstream_gene_variant CESC-US 16 67692539 67692539 single base substitution C T upstream_gene_variant CESC-US 16 67692860 67692860 single base substitution G A upstream_gene_variant CESC-US 16 67696338 67696338 single base substitution G C exon_variant CESC-US 16 67696338 67696338 single base substitution G C missense_variant D247H 739G>C CESC-US 16 67696338 67696338 single base substitution G C missense_variant D276H 826G>C CESC-US 16 67696338 67696338 single base substitution G C missense_variant D277H 829G>C CESC-US 16 67697103 67697103 single base substitution G C downstream_gene_variant CESC-US 16 67700140 67700140 single base substitution C T downstream_gene_variant CESC-US 16 67700945 67700945 single base substitution G A downstream_gene_variant CLLE-ES 16 67694635 67694635 single base substitution T C upstream_gene_variant COAD-US 16 67691194 67691194 single base substitution C T upstream_gene_variant COAD-US 16 67691515 67691515 single base substitution C A upstream_gene_variant COAD-US 16 67691944 67691944 single base substitution G A upstream_gene_variant COAD-US 16 67691948 67691948 single base substitution G A upstream_gene_variant COAD-US 16 67692136 67692136 single base substitution C T upstream_gene_variant COAD-US 16 67693652 67693652 single base substitution G A upstream_gene_variant COAD-US 16 67696271 67696271 single base substitution C T exon_variant COAD-US 16 67696271 67696271 single base substitution C T synonymous_variant N224N 672C>T COAD-US 16 67696271 67696271 single base substitution C T synonymous_variant N253N 759C>T COAD-US 16 67696271 67696271 single base substitution C T synonymous_variant N254N 762C>T COAD-US 16 67697068 67697068 single base substitution T C downstream_gene_variant COAD-US 16 67697449 67697449 single base substitution G A downstream_gene_variant COAD-US 16 67697663 67697663 deletion of <=200bp G - downstream_gene_variant COAD-US 16 67699995 67699995 single base substitution C A downstream_gene_variant COAD-US 16 67700001 67700001 single base substitution A C downstream_gene_variant COAD-US 16 67701268 67701268 single base substitution C T downstream_gene_variant COCA-CN 16 67690506 67690506 single base substitution C A upstream_gene_variant COCA-CN 16 67690739 67690739 single base substitution C T upstream_gene_variant COCA-CN 16 67693137 67693137 single base substitution T C upstream_gene_variant COCA-CN 16 67695314 67695314 single base substitution G A exon_variant COCA-CN 16 67695314 67695314 single base substitution G A intron_variant COCA-CN 16 67696346 67696346 single base substitution C T exon_variant COCA-CN 16 67696346 67696346 single base substitution C T synonymous_variant D249D 747C>T COCA-CN 16 67696346 67696346 single base substitution C T synonymous_variant D278D 834C>T COCA-CN 16 67696346 67696346 single base substitution C T synonymous_variant D279D 837C>T COCA-CN 16 67701053 67701053 single base substitution A T downstream_gene_variant COCA-CN 16 67701301 67701301 single base substitution C G downstream_gene_variant ESAD-UK 16 67690074 67690074 deletion of <=200bp T - upstream_gene_variant ESAD-UK 16 67691642 67691642 single base substitution T C upstream_gene_variant ESAD-UK 16 67692585 67692585 single base substitution G A upstream_gene_variant ESAD-UK 16 67692672 67692672 single base substitution C G upstream_gene_variant ESAD-UK 16 67697782 67697782 insertion of <=200bp - C downstream_gene_variant ESCA-CN 16 67694249 67694249 single base substitution C T upstream_gene_variant KIRC-US 16 67690372 67690372 single base substitution C T upstream_gene_variant KIRC-US 16 67692130 67692130 single base substitution G A upstream_gene_variant KIRC-US 16 67694268 67694268 insertion of <=200bp - G upstream_gene_variant KIRC-US 16 67695546 67695546 insertion of <=200bp - C exon_variant KIRC-US 16 67695546 67695546 insertion of <=200bp - C frameshift_variant G84G? KIRC-US 16 67695546 67695546 insertion of <=200bp - C intron_variant KIRC-US 16 67697841 67697841 single base substitution T G downstream_gene_variant KIRP-US 16 67695546 67695546 insertion of <=200bp - C exon_variant KIRP-US 16 67695546 67695546 insertion of <=200bp - C frameshift_variant G84G? KIRP-US 16 67695546 67695546 insertion of <=200bp - C intron_variant LGG-US 16 67694142 67694142 single base substitution C T upstream_gene_variant LGG-US 16 67700039 67700039 single base substitution C T downstream_gene_variant LICA-CN 16 67694969 67694969 single base substitution C T missense_variant R10C 28C>T LICA-CN 16 67694969 67694969 single base substitution C T upstream_gene_variant LICA-CN 16 67697174 67697174 single base substitution A T downstream_gene_variant LICA-FR 16 67695843 67695843 single base substitution C T exon_variant LICA-FR 16 67695843 67695843 single base substitution C T missense_variant R111W 331C>T LICA-FR 16 67695843 67695843 single base substitution C T missense_variant R112W 334C>T LICA-FR 16 67695843 67695843 single base substitution C T missense_variant R82W 244C>T LICA-FR 16 67696294 67696294 single base substitution G A exon_variant LICA-FR 16 67696294 67696294 single base substitution G A missense_variant R232H 695G>A LICA-FR 16 67696294 67696294 single base substitution G A missense_variant R261H 782G>A LICA-FR 16 67696294 67696294 single base substitution G A missense_variant R262H 785G>A LIHC-US 16 67697652 67697652 single base substitution G A downstream_gene_variant LINC-JP 16 67690135 67690135 single base substitution C A upstream_gene_variant LINC-JP 16 67697918 67697918 single base substitution C G downstream_gene_variant LIRI-JP 16 67698273 67698273 single base substitution T C downstream_gene_variant LIRI-JP 16 67698926 67698926 single base substitution C T downstream_gene_variant LIRI-JP 16 67699257 67699257 single base substitution A T downstream_gene_variant LIRI-JP 16 67700048 67700048 single base substitution C T downstream_gene_variant LUSC-KR 16 67690514 67690514 single base substitution C T upstream_gene_variant LUSC-KR 16 67693987 67693987 single base substitution C G upstream_gene_variant LUSC-KR 16 67700740 67700740 single base substitution C A downstream_gene_variant LUSC-US 16 67691204 67691204 single base substitution C G upstream_gene_variant LUSC-US 16 67694088 67694088 single base substitution C T upstream_gene_variant LUSC-US 16 67694091 67694091 single base substitution G A upstream_gene_variant LUSC-US 16 67694322 67694322 single base substitution T A upstream_gene_variant LUSC-US 16 67695950 67695950 single base substitution C G exon_variant LUSC-US 16 67695950 67695950 single base substitution C G missense_variant D117E 351C>G LUSC-US 16 67695950 67695950 single base substitution C G missense_variant D146E 438C>G LUSC-US 16 67695950 67695950 single base substitution C G missense_variant D147E 441C>G LUSC-US 16 67698949 67698949 single base substitution G A downstream_gene_variant LUSC-US 16 67700143 67700143 single base substitution C T downstream_gene_variant MALY-DE 16 67690678 67690678 single base substitution A G upstream_gene_variant MALY-DE 16 67691534 67691534 single base substitution G A upstream_gene_variant MALY-DE 16 67691694 67691694 single base substitution C T upstream_gene_variant MELA-AU 16 67690569 67690569 single base substitution C T upstream_gene_variant MELA-AU 16 67691794 67691794 single base substitution G A upstream_gene_variant MELA-AU 16 67691934 67691934 single base substitution G A upstream_gene_variant MELA-AU 16 67692001 67692001 single base substitution G A upstream_gene_variant MELA-AU 16 67692265 67692265 single base substitution C T upstream_gene_variant MELA-AU 16 67692277 67692277 single base substitution G A upstream_gene_variant MELA-AU 16 67693559 67693559 single base substitution G A upstream_gene_variant MELA-AU 16 67694175 67694176 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 67694198 67694198 single base substitution G A upstream_gene_variant MELA-AU 16 67694201 67694201 single base substitution G A upstream_gene_variant MELA-AU 16 67694211 67694211 single base substitution C T upstream_gene_variant MELA-AU 16 67694226 67694226 single base substitution G A upstream_gene_variant MELA-AU 16 67694229 67694229 single base substitution G A upstream_gene_variant MELA-AU 16 67694242 67694242 single base substitution C T upstream_gene_variant MELA-AU 16 67694728 67694728 single base substitution G A upstream_gene_variant MELA-AU 16 67694783 67694784 multiple base substitution (>=2bp and <=200bp) CC TA upstream_gene_variant MELA-AU 16 67695202 67695202 single base substitution G A exon_variant MELA-AU 16 67695202 67695202 single base substitution G A intron_variant MELA-AU 16 67695480 67695480 single base substitution G A exon_variant MELA-AU 16 67695480 67695480 single base substitution G A synonymous_variant T62T 186G>A MELA-AU 16 67695514 67695514 single base substitution G A exon_variant MELA-AU 16 67695514 67695514 single base substitution G A intron_variant MELA-AU 16 67695514 67695514 single base substitution G A missense_variant D74N 220G>A MELA-AU 16 67696607 67696607 single base substitution C A 3_prime_UTR_variant MELA-AU 16 67696607 67696607 single base substitution C A exon_variant MELA-AU 16 67696984 67696984 single base substitution G A downstream_gene_variant MELA-AU 16 67697479 67697479 single base substitution G A downstream_gene_variant MELA-AU 16 67697744 67697744 single base substitution G A downstream_gene_variant MELA-AU 16 67698125 67698125 single base substitution G A downstream_gene_variant MELA-AU 16 67698144 67698144 single base substitution G A downstream_gene_variant MELA-AU 16 67699097 67699097 single base substitution T A downstream_gene_variant MELA-AU 16 67699377 67699377 single base substitution A G downstream_gene_variant MELA-AU 16 67701240 67701240 single base substitution G A downstream_gene_variant ORCA-IN 16 67691737 67691737 single base substitution C A upstream_gene_variant ORCA-IN 16 67700040 67700040 single base substitution G T downstream_gene_variant OV-AU 16 67692609 67692609 single base substitution C A upstream_gene_variant OV-AU 16 67692610 67692610 single base substitution C A upstream_gene_variant OV-AU 16 67694257 67694257 single base substitution G A upstream_gene_variant OV-AU 16 67700661 67700661 single base substitution G A downstream_gene_variant PACA-AU 16 67690805 67690805 single base substitution G A upstream_gene_variant PACA-AU 16 67691253 67691253 single base substitution C A upstream_gene_variant PACA-AU 16 67696264 67696264 single base substitution G A exon_variant PACA-AU 16 67696264 67696264 single base substitution G A missense_variant R222H 665G>A PACA-AU 16 67696264 67696264 single base substitution G A missense_variant R251H 752G>A PACA-AU 16 67696264 67696264 single base substitution G A missense_variant R252H 755G>A PACA-AU 16 67699456 67699456 single base substitution G A downstream_gene_variant PACA-AU 16 67701566 67701566 single base substitution G C downstream_gene_variant PACA-CA 16 67690731 67690731 single base substitution C T upstream_gene_variant PACA-CA 16 67692268 67692270 deletion of <=200bp GAG - upstream_gene_variant PACA-CA 16 67693328 67693328 deletion of <=200bp A - upstream_gene_variant PACA-CA 16 67695338 67695338 single base substitution C T exon_variant PACA-CA 16 67695338 67695338 single base substitution C T intron_variant PACA-CA 16 67695867 67695867 single base substitution C T exon_variant PACA-CA 16 67695867 67695867 single base substitution C T missense_variant R119W 355C>T PACA-CA 16 67695867 67695867 single base substitution C T missense_variant R120W 358C>T PACA-CA 16 67695867 67695867 single base substitution C T missense_variant R90W 268C>T PACA-CA 16 67700592 67700592 single base substitution G A downstream_gene_variant PAEN-AU 16 67701397 67701397 single base substitution C T downstream_gene_variant PBCA-DE 16 67694303 67694303 single base substitution C T upstream_gene_variant PRAD-CA 16 67700552 67700552 single base substitution G A downstream_gene_variant PRAD-US 16 67694962 67694962 single base substitution T C synonymous_variant T7T 21T>C PRAD-US 16 67694962 67694962 single base substitution T C upstream_gene_variant PRAD-US 16 67700164 67700164 single base substitution T C downstream_gene_variant READ-US 16 67695552 67695552 single base substitution G A exon_variant READ-US 16 67695552 67695552 single base substitution G A intron_variant READ-US 16 67695552 67695552 single base substitution G A synonymous_variant P86P 258G>A RECA-EU 16 67693378 67693378 single base substitution G T upstream_gene_variant SKCA-BR 16 67689887 67689887 single base substitution T G upstream_gene_variant SKCA-BR 16 67691546 67691546 single base substitution A C upstream_gene_variant SKCA-BR 16 67691550 67691550 single base substitution G A upstream_gene_variant SKCA-BR 16 67694198 67694198 single base substitution G A upstream_gene_variant SKCA-BR 16 67698144 67698144 single base substitution G A downstream_gene_variant SKCA-BR 16 67701528 67701528 single base substitution T C downstream_gene_variant SKCM-US 16 67690334 67690334 single base substitution C T upstream_gene_variant SKCM-US 16 67692058 67692058 single base substitution G A upstream_gene_variant SKCM-US 16 67692482 67692482 single base substitution G T upstream_gene_variant SKCM-US 16 67694047 67694047 single base substitution G A upstream_gene_variant SKCM-US 16 67694180 67694180 single base substitution C T upstream_gene_variant SKCM-US 16 67694194 67694194 single base substitution G A upstream_gene_variant SKCM-US 16 67694195 67694195 single base substitution G A upstream_gene_variant SKCM-US 16 67694198 67694198 single base substitution G A upstream_gene_variant SKCM-US 16 67694201 67694201 single base substitution G A upstream_gene_variant SKCM-US 16 67694215 67694215 single base substitution G A upstream_gene_variant SKCM-US 16 67694229 67694229 single base substitution G A upstream_gene_variant SKCM-US 16 67694231 67694231 single base substitution G A upstream_gene_variant SKCM-US 16 67694967 67694967 single base substitution C T missense_variant A9V 26C>T SKCM-US 16 67694967 67694967 single base substitution C T upstream_gene_variant SKCM-US 16 67696356 67696356 single base substitution A C exon_variant SKCM-US 16 67696356 67696356 single base substitution A C missense_variant S253R 757A>C SKCM-US 16 67696356 67696356 single base substitution A C missense_variant S282R 844A>C SKCM-US 16 67696356 67696356 single base substitution A C missense_variant S283R 847A>C SKCM-US 16 67697082 67697082 single base substitution G A downstream_gene_variant SKCM-US 16 67698988 67698988 single base substitution G T downstream_gene_variant SKCM-US 16 67699046 67699046 single base substitution C T downstream_gene_variant SKCM-US 16 67700148 67700148 single base substitution T G downstream_gene_variant STAD-US 16 67691166 67691166 deletion of <=200bp C - upstream_gene_variant STAD-US 16 67691889 67691889 single base substitution C A upstream_gene_variant STAD-US 16 67691945 67691945 single base substitution G A upstream_gene_variant STAD-US 16 67692248 67692248 single base substitution C T upstream_gene_variant STAD-US 16 67692931 67692931 single base substitution T C upstream_gene_variant STAD-US 16 67693469 67693469 single base substitution C A upstream_gene_variant STAD-US 16 67694125 67694125 single base substitution C A upstream_gene_variant STAD-US 16 67694161 67694161 single base substitution T C upstream_gene_variant STAD-US 16 67695812 67695812 single base substitution C T exon_variant STAD-US 16 67695812 67695812 single base substitution C T synonymous_variant S100S 300C>T STAD-US 16 67695812 67695812 single base substitution C T synonymous_variant S101S 303C>T STAD-US 16 67695812 67695812 single base substitution C T synonymous_variant S71S 213C>T STAD-US 16 67695846 67695846 single base substitution C T exon_variant STAD-US 16 67695846 67695846 single base substitution C T missense_variant R112C 334C>T STAD-US 16 67695846 67695846 single base substitution C T missense_variant R113C 337C>T STAD-US 16 67695846 67695846 single base substitution C T missense_variant R83C 247C>T STAD-US 16 67697179 67697179 single base substitution G A downstream_gene_variant STAD-US 16 67697207 67697207 single base substitution G A downstream_gene_variant STAD-US 16 67697400 67697400 single base substitution G A downstream_gene_variant STAD-US 16 67697558 67697558 single base substitution A G downstream_gene_variant STAD-US 16 67697911 67697911 single base substitution G A downstream_gene_variant STAD-US 16 67699037 67699037 single base substitution C T downstream_gene_variant STAD-US 16 67700086 67700086 single base substitution G A downstream_gene_variant STAD-US 16 67701280 67701280 single base substitution G A downstream_gene_variant THCA-US 16 67692859 67692859 single base substitution T C upstream_gene_variant THCA-US 16 67697198 67697198 single base substitution C T downstream_gene_variant THCA-US 16 67701334 67701334 single base substitution C G downstream_gene_variant UCEC-US 16 67690327 67690327 insertion of <=200bp - C upstream_gene_variant UCEC-US 16 67691181 67691181 single base substitution G A upstream_gene_variant UCEC-US 16 67691532 67691532 single base substitution C A upstream_gene_variant UCEC-US 16 67692203 67692203 single base substitution G A upstream_gene_variant UCEC-US 16 67692860 67692860 deletion of <=200bp G - upstream_gene_variant UCEC-US 16 67693628 67693628 single base substitution C T upstream_gene_variant UCEC-US 16 67694228 67694228 single base substitution G T upstream_gene_variant UCEC-US 16 67696085 67696085 single base substitution C A exon_variant UCEC-US 16 67696085 67696085 single base substitution C A synonymous_variant I162I 486C>A UCEC-US 16 67696085 67696085 single base substitution C A synonymous_variant I191I 573C>A UCEC-US 16 67696085 67696085 single base substitution C A synonymous_variant I192I 576C>A UCEC-US 16 67697371 67697371 single base substitution G A downstream_gene_variant UCEC-US 16 67700043 67700043 single base substitution G C downstream_gene_variant UCEC-US 16 67701400 67701400 single base substitution C T downstream_gene_variant UCEC-US 16 67701560 67701560 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand BD57T COSM5510826 c.768G>A p.V256V Substitution - coding silent 16:67662374-67662374 + TCGA-AD-5900-01 COSM1378977 c.762C>T p.N254N Substitution - coding silent 16:67662368-67662368 + ccRCC-40 COSM1665650 c.647delT p.L216fs*8 Deletion - Frameshift 16:67662253-67662253 + TCGA-CG-5719-01 COSM4061944 c.337C>T p.R113C Substitution - Missense 16:67661943-67661943 + TCGA-AF-2690-01 COSM3421093 c.258G>A p.P86P Substitution - coding silent 16:67661649-67661649 + TCGA-AC-A23H-01 COSM3818285 c.803C>G p.S268C Substitution - Missense 16:67662409-67662409 + TCGA-EJ-7786-01 COSM1470821 c.21T>C p.T7T Substitution - coding silent 16:67661059-67661059 + 8015139 COSM1168823 c.289_290insGAG p.A96_E97insG Insertion - In frame 16:67661895-67661896 + TCGA-GV-A3QK-01 COSM3795015 c.105G>A p.S35S Substitution - coding silent 16:67661496-67661496 + Pat_11_A COSM5851248 c.331C>T p.Q111* Substitution - Nonsense 16:67661937-67661937 + 6115117 COSM5565225 c.770G>A p.R257Q Substitution - Missense 16:67662376-67662376 + TCGA-13-1505-01 COSM72071 c.784C>T p.R262C Substitution - Missense 16:67662390-67662390 + PT33 COSM5909527 c.674G>A p.G225E Substitution - Missense 16:67662280-67662280 + HCC126T COSM5818786 c.28C>T p.R10C Substitution - Missense 16:67661066-67661066 + CHC303T COSM4950541 c.785G>A p.R262H Substitution - Missense 16:67662391-67662391 + 2250248 COSM5030024 c.596G>A p.R199H Substitution - Missense 16:67662202-67662202 + TCGA-BS-A0UF-01 COSM972548 c.576C>A p.I192I Substitution - coding silent 16:67662182-67662182 + 6115117 COSM5553216 c.862G>T p.E288* Substitution - Nonsense 16:67662468-67662468 + KPOPBR-07-T COSM4977868 c.87C>T p.F29F Substitution - coding silent 16:67661478-67661478 + PCSI_0083_Pa_P_526 COSM3377930 c.358C>T p.R120W Substitution - Missense 16:67661964-67661964 + TCGA-18-4086-01 COSM703836 c.441C>G p.D147E Substitution - Missense 16:67662047-67662047 + TCGA-FD-A3SM-01 COSM3795016 c.607G>A p.A203T Substitution - Missense 16:67662213-67662213 + 6115117 COSM5548291 c.1040G>C p.*347S Nonstop extension 16:67662646-67662646 + LIM2405 COSM4642042 c.538C>T p.R180C Substitution - Missense 16:67662144-67662144 + sysucc-274T COSM5475887 c.837C>T p.D279D Substitution - coding silent 16:67662443-67662443 + TCGA-27-1835 COSM2157246 c.250_252delGGG p.G84delG Deletion - In frame 16:67661641-67661643 + 01-P131 COSM4579175 c.198C>T p.G66G Substitution - coding silent 16:67661589-67661589 + TCGA-EE-A3JD-06 COSM4394194 c.847A>C p.S283R Substitution - Missense 16:67662453-67662453 + Pat_58_B COSM5851249 c.915G>A p.W305* Substitution - Nonsense 16:67662521-67662521 + 10-P083 COSM2995469 c.755G>A p.R252H Substitution - Missense 16:67662361-67662361 + PCSI_0083_Pa_P COSM3377930 c.358C>T p.R120W Substitution - Missense 16:67661964-67661964 + S02139 COSM1470821 c.21T>C p.T7T Substitution - coding silent 16:67661059-67661059 + 19 COSM5747752 c.473T>C p.V158A Substitution - Missense 16:67662079-67662079 + PT50 COSM5937693 c.908C>T p.P303L Substitution - Missense 16:67662514-67662514 + TCGA-C8-A138-01 COSM435544 c.441C>T p.D147D Substitution - coding silent 16:67662047-67662047 + DU-145 COSM1679188 c.734C>T p.T245I Substitution - Missense 16:67662340-67662340 + BCM683T COSM4799370 c.334C>T p.R112W Substitution - Missense 16:67661940-67661940 + RKO COSM2995465 c.533G>A p.S178N Substitution - Missense 16:67662139-67662139 + ESO-1872 COSM1260922 c.142G>T p.A48S Substitution - Missense 16:67661533-67661533 + Pat_24_A COSM5851247 c.139C>T p.R47W Substitution - Missense 16:67661530-67661530 + 8016470 COSM2995469 c.755G>A p.R252H Substitution - Missense 16:67662361-67662361 + PTC-14C COSM4129221 c.453G>T p.L151L Substitution - coding silent 16:67662059-67662059 + TCGA-G2-A2EC-01 COSM1302138 c.958C>T p.L320L Substitution - coding silent 16:67662564-67662564 + TCGA-CF-A1HS-01 COSM417318 c.104C>A p.S35* Substitution - Nonsense 16:67661495-67661495 + TCGA-FD-A3SR-01 COSM3795014 c.87C>A p.F29L Substitution - Missense 16:67661478-67661478 + MD-318 COSM302859 c.809G>A p.G270E Substitution - Missense 16:67662415-67662415 + PD6626a COSM3719882 c.562C>T p.R188W Substitution - Missense 16:67662168-67662168 + TCGA-CF-A1HS-01 COSM417317 c.600G>C p.G200G Substitution - coding silent 16:67662206-67662206 + BCM683T COSM4799370 c.334C>T p.R112W Substitution - Missense 16:67661940-67661940 + T2225 COSM4711134 c.266G>A p.R89H Substitution - Missense 16:67661657-67661657 + LIM2405 COSM4642041 c.384G>A p.R128R Substitution - coding silent 16:67661990-67661990 + PCSI_0083_Pa_X COSM3377930 c.358C>T p.R120W Substitution - Missense 16:67661964-67661964 + PT37 COSM5921018 c.571G>A p.G191R Substitution - Missense 16:67662177-67662177 + CSCC-18-T COSM4479687 c.234C>T p.H78H Substitution - coding silent 16:67661625-67661625 + T263 COSM4711133 c.119_121delAGG p.E41delE Deletion - In frame 16:67661510-67661512 + ESO-859 COSM1239703 c.630G>A p.A210A Substitution - coding silent 16:67662236-67662236 + TCGA-EB-A3Y7-01 COSM3511077 c.26C>T p.A9V Substitution - Missense 16:67661064-67661064 + CHC303T COSM4950541 c.785G>A p.R262H Substitution - Missense 16:67662391-67662391 + CSCC-44-T COSM4499757 c.549C>T p.P183P Substitution - coding silent 16:67662155-67662155 + 1N62-VS-1T62 COSM4977868 c.87C>T p.F29F Substitution - coding silent 16:67661478-67661478 + ICGC_0033 COSM1158975 c.290_291insGAG p.E97_A98insR Insertion - In frame 16:67661896-67661897 + 587376 COSM1219283 c.1012C>T p.R338* Substitution - Nonsense 16:67662618-67662618 + TCGA-CD-A4MG-01 COSM4061943 c.303C>T p.S101S Substitution - coding silent 16:67661909-67661909 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.112932;Hs.112933 16q22.1 607484

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.S283R c.847A>C 16 67696356 CM C A Nonsense p.S35* c.104C>A 16 67695398 BLCA - C Frameshift p.P87Afs*13 c.257dupC 16 67695547 RCCC C G Missense p.D147E c.441C>G 16 67695950 LUSC C T Missense p.P8S c.22C>T 16 67694963 CM C T Missense p.R262C c.784C>T 16 67696293 OV C T Missense p.S143F c.428C>T 16 67695937 CM C T Missense p.S295F c.884C>T 16 67696393 CM C T Synonymous p.D147D c.441C>T 16 67695950 BRCA C T Synonymous p.L320L c.958C>T 16 67696467 BLCA G A Missense p.G258E c.773G>A 16 67696282 CM G C Missense p.M1I c.3G>C 16 67694944 HNSC G C Synonymous p.G200G c.600G>C 16 67696109 BLCA G T Missense p.A48S c.142G>T 16 67695436 ESCA T C Synonymous p.T7T c.21T>C 16 67694962 PRAD