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 27245536 27245536 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr16:27245536C>G c.309G>C c.(307-309)gaG>gaC p.E103D BLCA 16 27245562 27245562 + Missense_Mutation SNP A A C TCGA-KQ-A41N-01A-11D-A339-08 TCGA-KQ-A41N-10D-01D-A339-08 g.chr16:27245562A>C c.283T>G c.(283-285)Tcc>Gcc p.S95A BLCA 16 27246532 27246532 + Silent SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr16:27246532G>A c.225C>T c.(223-225)gtC>gtT p.V75V BLCA 16 27246536 27246536 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 g.chr16:27246536C>T c.221G>A c.(220-222)gGa>gAa p.G74E BLCA 16 27246541 27246541 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr16:27246541C>T c.216G>A c.(214-216)aaG>aaA p.K72K BLCA 16 27246561 27246561 + Missense_Mutation SNP A A T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 g.chr16:27246561A>T c.196T>A c.(196-198)Tcc>Acc p.S66T BLCA 16 27268804 27268804 + Missense_Mutation SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 g.chr16:27268804C>T c.88G>A c.(88-90)Gaa>Aaa p.E30K BRCA 16 27238062 27238062 + Silent SNP G G A TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 g.chr16:27238062G>A c.579C>T c.(577-579)atC>atT p.I193I BRCA 16 27238139 27238139 + Silent SNP G G A TCGA-BH-A0W7-01A-11D-A10Y-09 TCGA-BH-A0W7-10A-01D-A110-09 g.chr16:27238139G>A c.502C>T c.(502-504)Ctg>Ttg p.L168L COAD 16 27236512 27236512 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr16:27236512G>A c.767C>T c.(766-768)tCg>tTg p.S256L COAD 16 27268813 27268813 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr16:27268813C>T c.79G>A c.(79-81)Gtg>Atg p.V27M COADREAD 16 27236512 27236512 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr16:27236512G>A c.767C>T c.(766-768)tCg>tTg p.S256L COADREAD 16 27236549 27236549 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:27236549C>T c.730G>A c.(730-732)Gac>Aac p.D244N COADREAD 16 27268813 27268813 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr16:27268813C>T c.79G>A c.(79-81)Gtg>Atg p.V27M ESCA 16 27237089 27237089 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 g.chr16:27237089G>A c.679C>T c.(679-681)Cgc>Tgc p.R227C ESCA 16 27238129 27238129 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 g.chr16:27238129C>T c.512G>A c.(511-513)cGg>cAg p.R171Q ESCA 16 27268847 27268847 + Silent SNP G G A TCGA-V5-AASW-01A-11D-A403-09 TCGA-V5-AASW-10A-01D-A403-09 g.chr16:27268847G>A c.45C>T c.(43-45)caC>caT p.H15H ESCA 16 27268881 27268881 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 g.chr16:27268881C>T c.11G>A c.(10-12)aGc>aAc p.S4N GBMLGG 16 27268844 27268844 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:27268844C>T c.48G>A c.(46-48)cgG>cgA p.R16R HNSC 16 27237111 27237111 + Silent SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 g.chr16:27237111G>A c.657C>T c.(655-657)taC>taT p.Y219Y HNSC 16 27238046 27238046 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr16:27238046T>C c.595A>G c.(595-597)Atc>Gtc p.I199V LGG 16 27268844 27268844 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:27268844C>T c.48G>A c.(46-48)cgG>cgA p.R16R LIHC 16 27268833 27268833 + Missense_Mutation SNP T T C TCGA-CC-A7IH-01A-11D-A33K-10 TCGA-CC-A7IH-10A-01D-A33K-10 g.chr16:27268833T>C c.59A>G c.(58-60)cAg>cGg p.Q20R LUAD 16 27238081 27238081 + Missense_Mutation SNP G G A TCGA-62-A46U-01A-11D-A24D-08 TCGA-62-A46U-10A-01D-A24F-08 g.chr16:27238081G>A c.560C>T c.(559-561)gCg>gTg p.A187V LUSC 16 27238086 27238086 + Silent SNP G G A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 g.chr16:27238086G>A c.555C>T c.(553-555)ccC>ccT p.P185P LUSC 16 27246603 27246603 + Nonsense_Mutation SNP T T A TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr16:27246603T>A c.154A>T c.(154-156)Aag>Tag p.K52* LUSC 16 27268767 27268767 + Missense_Mutation SNP T T C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 g.chr16:27268767T>C c.125A>G c.(124-126)aAg>aGg p.K42R READ 16 27236549 27236549 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:27236549C>T c.730G>A c.(730-732)Gac>Aac p.D244N SKCM 16 27238131 27238131 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 g.chr16:27238131G>A c.510C>T c.(508-510)ggC>ggT p.G170G SKCM 16 27244394 27244394 + Silent SNP T T C TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr16:27244394T>C c.411A>G c.(409-411)aaA>aaG p.K137K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 16 27246536 27246536 single base substitution C T 3_prime_UTR_variant BLCA-US 16 27246536 27246536 single base substitution C T downstream_gene_variant BLCA-US 16 27246536 27246536 single base substitution C T exon_variant BLCA-US 16 27246536 27246536 single base substitution C T missense_variant G74E 221G>A BLCA-US 16 27246536 27246536 single base substitution C T synonymous_variant ?74 BLCA-US 16 27246536 27246536 single base substitution C T upstream_gene_variant BLCA-US 16 27246541 27246541 single base substitution C T 3_prime_UTR_variant BLCA-US 16 27246541 27246541 single base substitution C T exon_variant BLCA-US 16 27246541 27246541 single base substitution C T synonymous_variant K72K 216G>A BLCA-US 16 27246541 27246541 single base substitution C T upstream_gene_variant BLCA-US 16 27268804 27268804 single base substitution C T exon_variant BLCA-US 16 27268804 27268804 single base substitution C T missense_variant E30K 88G>A BOCA-FR 16 27244233 27244234 multiple base substitution (>=2bp and <=200bp) AC CA downstream_gene_variant BOCA-FR 16 27244233 27244234 multiple base substitution (>=2bp and <=200bp) AC CA intron_variant BOCA-FR 16 27244233 27244234 multiple base substitution (>=2bp and <=200bp) AC CA upstream_gene_variant BOCA-FR 16 27270764 27270764 single base substitution T C intron_variant BOCA-FR 16 27270764 27270764 single base substitution T C upstream_gene_variant BRCA-EU 16 27231868 27231868 single base substitution C T downstream_gene_variant BRCA-EU 16 27234374 27234374 single base substitution G C downstream_gene_variant BRCA-EU 16 27235029 27235029 single base substitution G A downstream_gene_variant BRCA-EU 16 27237503 27237503 deletion of <=200bp A - downstream_gene_variant BRCA-EU 16 27237503 27237503 deletion of <=200bp A - exon_variant BRCA-EU 16 27237503 27237503 deletion of <=200bp A - intron_variant BRCA-EU 16 27238310 27238310 single base substitution T A intron_variant BRCA-EU 16 27239060 27239060 single base substitution T G intron_variant BRCA-EU 16 27240872 27240872 single base substitution G C downstream_gene_variant BRCA-EU 16 27240872 27240872 single base substitution G C intron_variant BRCA-EU 16 27241369 27241369 insertion of <=200bp - T downstream_gene_variant BRCA-EU 16 27241369 27241369 insertion of <=200bp - T intron_variant BRCA-EU 16 27241922 27241922 single base substitution G A downstream_gene_variant BRCA-EU 16 27241922 27241922 single base substitution G A exon_variant BRCA-EU 16 27241922 27241922 single base substitution G A intron_variant BRCA-EU 16 27241976 27241976 single base substitution T C downstream_gene_variant BRCA-EU 16 27241976 27241976 single base substitution T C exon_variant BRCA-EU 16 27241976 27241976 single base substitution T C intron_variant BRCA-EU 16 27242496 27242496 single base substitution G T downstream_gene_variant BRCA-EU 16 27242496 27242496 single base substitution G T intron_variant BRCA-EU 16 27242496 27242496 single base substitution G T upstream_gene_variant BRCA-EU 16 27242721 27242721 single base substitution G A downstream_gene_variant BRCA-EU 16 27242721 27242721 single base substitution G A intron_variant BRCA-EU 16 27242721 27242721 single base substitution G A upstream_gene_variant BRCA-EU 16 27244050 27244050 single base substitution C T downstream_gene_variant BRCA-EU 16 27244050 27244050 single base substitution C T intron_variant BRCA-EU 16 27244050 27244050 single base substitution C T upstream_gene_variant BRCA-EU 16 27244097 27244097 single base substitution C T downstream_gene_variant BRCA-EU 16 27244097 27244097 single base substitution C T intron_variant BRCA-EU 16 27244097 27244097 single base substitution C T upstream_gene_variant BRCA-EU 16 27244977 27244977 single base substitution C G downstream_gene_variant BRCA-EU 16 27244977 27244977 single base substitution C G intron_variant BRCA-EU 16 27244977 27244977 single base substitution C G upstream_gene_variant BRCA-EU 16 27245202 27245202 single base substitution G A downstream_gene_variant BRCA-EU 16 27245202 27245202 single base substitution G A intron_variant BRCA-EU 16 27245202 27245202 single base substitution G A upstream_gene_variant BRCA-EU 16 27246871 27246871 single base substitution C T intron_variant BRCA-EU 16 27246871 27246871 single base substitution C T upstream_gene_variant BRCA-EU 16 27247743 27247743 single base substitution G A intron_variant BRCA-EU 16 27247743 27247743 single base substitution G A upstream_gene_variant BRCA-EU 16 27249262 27249262 single base substitution C T intron_variant BRCA-EU 16 27249262 27249262 single base substitution C T upstream_gene_variant BRCA-EU 16 27249388 27249388 single base substitution G A intron_variant BRCA-EU 16 27249388 27249388 single base substitution G A upstream_gene_variant BRCA-EU 16 27250528 27250528 single base substitution C G intron_variant BRCA-EU 16 27251579 27251579 single base substitution G T intron_variant BRCA-EU 16 27251962 27251962 single base substitution G T intron_variant BRCA-EU 16 27252767 27252767 single base substitution G T 3_prime_UTR_variant BRCA-EU 16 27252767 27252767 single base substitution G T intron_variant BRCA-EU 16 27255355 27255355 single base substitution G A intron_variant BRCA-EU 16 27256562 27256596 deletion of <=200bp GTAAAAGAACTTTCCCCAGACCCTGGAAGAAACAG - intron_variant BRCA-EU 16 27257334 27257334 single base substitution C G intron_variant BRCA-EU 16 27257365 27257365 single base substitution G C intron_variant BRCA-EU 16 27258039 27258039 single base substitution G C intron_variant BRCA-EU 16 27259143 27259143 single base substitution G A intron_variant BRCA-EU 16 27259412 27259412 single base substitution T A intron_variant BRCA-EU 16 27260596 27260596 single base substitution A C intron_variant BRCA-EU 16 27263816 27263816 single base substitution G A downstream_gene_variant BRCA-EU 16 27263816 27263816 single base substitution G A intron_variant BRCA-EU 16 27263906 27263906 single base substitution C A downstream_gene_variant BRCA-EU 16 27263906 27263906 single base substitution C A intron_variant BRCA-EU 16 27264278 27264278 single base substitution C T downstream_gene_variant BRCA-EU 16 27264278 27264278 single base substitution C T intron_variant BRCA-EU 16 27265166 27265166 single base substitution C T downstream_gene_variant BRCA-EU 16 27265166 27265166 single base substitution C T intron_variant BRCA-EU 16 27268648 27268648 single base substitution C T downstream_gene_variant BRCA-EU 16 27268648 27268648 single base substitution C T intron_variant BRCA-EU 16 27271090 27271090 single base substitution A G intron_variant BRCA-EU 16 27271090 27271090 single base substitution A G upstream_gene_variant BRCA-EU 16 27271383 27271383 single base substitution C T intron_variant BRCA-EU 16 27271383 27271383 single base substitution C T upstream_gene_variant BRCA-EU 16 27271690 27271690 single base substitution C A intron_variant BRCA-EU 16 27271690 27271690 single base substitution C A upstream_gene_variant BRCA-EU 16 27272677 27272677 single base substitution G C downstream_gene_variant BRCA-EU 16 27272677 27272677 single base substitution G C intron_variant BRCA-EU 16 27272677 27272677 single base substitution G C upstream_gene_variant BRCA-EU 16 27273010 27273010 single base substitution G A downstream_gene_variant BRCA-EU 16 27273010 27273010 single base substitution G A intron_variant BRCA-EU 16 27273010 27273010 single base substitution G A upstream_gene_variant BRCA-EU 16 27273839 27273839 single base substitution T G downstream_gene_variant BRCA-EU 16 27273839 27273839 single base substitution T G intron_variant BRCA-EU 16 27273839 27273839 single base substitution T G upstream_gene_variant BRCA-EU 16 27275109 27275109 single base substitution G A downstream_gene_variant BRCA-EU 16 27275109 27275109 single base substitution G A intron_variant BRCA-EU 16 27276670 27276670 single base substitution T G downstream_gene_variant BRCA-EU 16 27276670 27276670 single base substitution T G intron_variant BRCA-EU 16 27277944 27277944 single base substitution A G intron_variant BRCA-EU 16 27278093 27278093 single base substitution C G intron_variant BRCA-EU 16 27278513 27278513 single base substitution C G intron_variant BRCA-EU 16 27278698 27278698 single base substitution G A intron_variant BRCA-EU 16 27278946 27278946 single base substitution G A intron_variant BRCA-EU 16 27280168 27280168 single base substitution C T upstream_gene_variant BRCA-EU 16 27280251 27280251 single base substitution A T upstream_gene_variant BRCA-EU 16 27280729 27280729 deletion of <=200bp A - upstream_gene_variant BRCA-EU 16 27281561 27281561 single base substitution G C upstream_gene_variant BRCA-EU 16 27281855 27281855 single base substitution A C upstream_gene_variant BRCA-EU 16 27281909 27281909 single base substitution T C upstream_gene_variant BRCA-EU 16 27281994 27281994 single base substitution T C upstream_gene_variant BRCA-EU 16 27283635 27283635 single base substitution C T upstream_gene_variant BRCA-EU 16 27284356 27284356 insertion of <=200bp - C upstream_gene_variant BRCA-EU 16 27284477 27284477 insertion of <=200bp - A upstream_gene_variant BRCA-FR 16 27245202 27245202 single base substitution G A downstream_gene_variant BRCA-FR 16 27245202 27245202 single base substitution G A intron_variant BRCA-FR 16 27245202 27245202 single base substitution G A upstream_gene_variant BRCA-FR 16 27251962 27251962 single base substitution G T intron_variant BRCA-FR 16 27257365 27257365 single base substitution G C intron_variant BRCA-FR 16 27257811 27257811 single base substitution G A intron_variant BRCA-FR 16 27262341 27262341 single base substitution T G intron_variant BRCA-FR 16 27281994 27281994 single base substitution T C upstream_gene_variant BRCA-KR 16 27246525 27246525 single base substitution C G 3_prime_UTR_variant BRCA-KR 16 27246525 27246525 single base substitution C G downstream_gene_variant BRCA-KR 16 27246525 27246525 single base substitution C G exon_variant BRCA-KR 16 27246525 27246525 single base substitution C G missense_variant D78H 232G>C BRCA-KR 16 27246525 27246525 single base substitution C G upstream_gene_variant BRCA-US 16 27238062 27238062 single base substitution G A 3_prime_UTR_variant BRCA-US 16 27238062 27238062 single base substitution G A exon_variant BRCA-US 16 27238062 27238062 single base substitution G A synonymous_variant I192I 576C>T BRCA-US 16 27238062 27238062 single base substitution G A synonymous_variant I193I 579C>T BRCA-US 16 27238062 27238062 single base substitution G A synonymous_variant I58I 174C>T BRCA-US 16 27238139 27238139 single base substitution G A 3_prime_UTR_variant BRCA-US 16 27238139 27238139 single base substitution G A exon_variant BRCA-US 16 27238139 27238139 single base substitution G A synonymous_variant L167L 499C>T BRCA-US 16 27238139 27238139 single base substitution G A synonymous_variant L168L 502C>T BRCA-US 16 27238139 27238139 single base substitution G A synonymous_variant L33L 97C>T BTCA-JP 16 27236579 27236579 single base substitution A C downstream_gene_variant BTCA-JP 16 27236579 27236579 single base substitution A C intron_variant CLLE-ES 16 27232696 27232696 single base substitution C A downstream_gene_variant CLLE-ES 16 27244966 27244966 single base substitution G A downstream_gene_variant CLLE-ES 16 27244966 27244966 single base substitution G A intron_variant CLLE-ES 16 27244966 27244966 single base substitution G A upstream_gene_variant CLLE-ES 16 27262514 27262514 single base substitution T A intron_variant COAD-US 16 27232004 27232004 single base substitution G A downstream_gene_variant COAD-US 16 27236512 27236512 single base substitution G A 3_prime_UTR_variant COAD-US 16 27236512 27236512 single base substitution G A downstream_gene_variant COAD-US 16 27236512 27236512 single base substitution G A exon_variant COAD-US 16 27236512 27236512 single base substitution G A missense_variant S256L 767C>T COAD-US 16 27237089 27237089 single base substitution G A 3_prime_UTR_variant COAD-US 16 27237089 27237089 single base substitution G A downstream_gene_variant COAD-US 16 27237089 27237089 single base substitution G A exon_variant COAD-US 16 27237089 27237089 single base substitution G A intron_variant COAD-US 16 27237089 27237089 single base substitution G A missense_variant R227C 679C>T COAD-US 16 27268779 27268779 single base substitution G C exon_variant COAD-US 16 27268779 27268779 single base substitution G C missense_variant T38R 113C>G COAD-US 16 27268813 27268813 single base substitution C T exon_variant COAD-US 16 27268813 27268813 single base substitution C T missense_variant V27M 79G>A COCA-CN 16 27232004 27232004 single base substitution G A downstream_gene_variant COCA-CN 16 27237023 27237023 single base substitution A G downstream_gene_variant COCA-CN 16 27237023 27237023 single base substitution A G intron_variant COCA-CN 16 27238236 27238236 single base substitution A G intron_variant COCA-CN 16 27244129 27244129 single base substitution C T downstream_gene_variant COCA-CN 16 27244129 27244129 single base substitution C T intron_variant COCA-CN 16 27244129 27244129 single base substitution C T upstream_gene_variant COCA-CN 16 27245549 27245549 single base substitution G A 3_prime_UTR_variant COCA-CN 16 27245549 27245549 single base substitution G A downstream_gene_variant COCA-CN 16 27245549 27245549 single base substitution G A exon_variant COCA-CN 16 27245549 27245549 single base substitution G A missense_variant T99M 296C>T COCA-CN 16 27245549 27245549 single base substitution G A upstream_gene_variant COCA-CN 16 27245580 27245580 single base substitution G T 3_prime_UTR_variant COCA-CN 16 27245580 27245580 single base substitution G T downstream_gene_variant COCA-CN 16 27245580 27245580 single base substitution G T exon_variant COCA-CN 16 27245580 27245580 single base substitution G T missense_variant L89I 265C>A COCA-CN 16 27245580 27245580 single base substitution G T upstream_gene_variant COCA-CN 16 27253315 27253315 single base substitution C A intron_variant EOPC-DE 16 27238179 27238179 single base substitution G A intron_variant EOPC-DE 16 27265827 27265827 single base substitution C T downstream_gene_variant EOPC-DE 16 27265827 27265827 single base substitution C T intron_variant EOPC-DE 16 27280978 27280978 single base substitution G C upstream_gene_variant ESAD-UK 16 27236700 27236700 single base substitution C T downstream_gene_variant ESAD-UK 16 27236700 27236700 single base substitution C T intron_variant ESAD-UK 16 27238587 27238587 single base substitution C T intron_variant ESAD-UK 16 27239487 27239487 single base substitution G A downstream_gene_variant ESAD-UK 16 27239487 27239487 single base substitution G A intron_variant ESAD-UK 16 27241759 27241759 single base substitution C T downstream_gene_variant ESAD-UK 16 27241759 27241759 single base substitution C T intron_variant ESAD-UK 16 27246681 27246681 single base substitution C T intron_variant ESAD-UK 16 27246681 27246681 single base substitution C T upstream_gene_variant ESAD-UK 16 27249348 27249348 single base substitution G A intron_variant ESAD-UK 16 27249348 27249348 single base substitution G A upstream_gene_variant ESAD-UK 16 27250805 27250805 single base substitution G A intron_variant ESAD-UK 16 27251428 27251428 single base substitution C T intron_variant ESAD-UK 16 27253537 27253537 single base substitution G A intron_variant ESAD-UK 16 27254405 27254405 single base substitution A G intron_variant ESAD-UK 16 27255583 27255583 single base substitution C T intron_variant ESAD-UK 16 27256922 27256922 single base substitution A G intron_variant ESAD-UK 16 27259262 27259262 single base substitution A T intron_variant ESAD-UK 16 27260546 27260546 single base substitution T C intron_variant ESAD-UK 16 27263113 27263113 single base substitution A C intron_variant ESAD-UK 16 27263285 27263285 single base substitution G A intron_variant ESAD-UK 16 27263934 27263934 single base substitution G A downstream_gene_variant ESAD-UK 16 27263934 27263934 single base substitution G A intron_variant ESAD-UK 16 27264239 27264239 deletion of <=200bp A - downstream_gene_variant ESAD-UK 16 27264239 27264239 deletion of <=200bp A - intron_variant ESAD-UK 16 27264393 27264393 single base substitution G A downstream_gene_variant ESAD-UK 16 27264393 27264393 single base substitution G A intron_variant ESAD-UK 16 27265539 27265539 single base substitution T G downstream_gene_variant ESAD-UK 16 27265539 27265539 single base substitution T G intron_variant ESAD-UK 16 27274601 27274601 single base substitution C G downstream_gene_variant ESAD-UK 16 27274601 27274601 single base substitution C G intron_variant ESAD-UK 16 27277028 27277028 single base substitution G A downstream_gene_variant ESAD-UK 16 27277028 27277028 single base substitution G A intron_variant ESAD-UK 16 27277965 27277965 single base substitution A T intron_variant ESAD-UK 16 27281071 27281071 single base substitution G A upstream_gene_variant ESAD-UK 16 27282690 27282690 single base substitution A C upstream_gene_variant LAML-KR 16 27239952 27239952 single base substitution T C downstream_gene_variant LAML-KR 16 27239952 27239952 single base substitution T C intron_variant LAML-KR 16 27267364 27267364 single base substitution T C downstream_gene_variant LAML-KR 16 27267364 27267364 single base substitution T C intron_variant LICA-FR 16 27231762 27231762 single base substitution G A downstream_gene_variant LICA-FR 16 27237213 27237213 single base substitution A G downstream_gene_variant LICA-FR 16 27237213 27237213 single base substitution A G exon_variant LICA-FR 16 27237213 27237213 single base substitution A G intron_variant LICA-FR 16 27244374 27244374 single base substitution T C 3_prime_UTR_variant LICA-FR 16 27244374 27244374 single base substitution T C downstream_gene_variant LICA-FR 16 27244374 27244374 single base substitution T C exon_variant LICA-FR 16 27244374 27244374 single base substitution T C missense_variant K144R 431A>G LICA-FR 16 27244374 27244374 single base substitution T C missense_variant K9R 26A>G LICA-FR 16 27244374 27244374 single base substitution T C upstream_gene_variant LICA-FR 16 27249821 27249821 single base substitution C T intron_variant LIHC-US 16 27232040 27232040 single base substitution T C downstream_gene_variant LIHC-US 16 27238075 27238075 single base substitution T C 3_prime_UTR_variant LIHC-US 16 27238075 27238075 single base substitution T C exon_variant LIHC-US 16 27238075 27238075 single base substitution T C missense_variant K188R 563A>G LIHC-US 16 27238075 27238075 single base substitution T C missense_variant K189R 566A>G LIHC-US 16 27238075 27238075 single base substitution T C missense_variant K54R 161A>G LIHC-US 16 27268833 27268833 single base substitution T C exon_variant LIHC-US 16 27268833 27268833 single base substitution T C missense_variant Q20R 59A>G LINC-JP 16 27236634 27236634 single base substitution C A downstream_gene_variant LINC-JP 16 27236634 27236634 single base substitution C A intron_variant LINC-JP 16 27237051 27237051 single base substitution G A 3_prime_UTR_variant LINC-JP 16 27237051 27237051 single base substitution G A downstream_gene_variant LINC-JP 16 27237051 27237051 single base substitution G A exon_variant LINC-JP 16 27237051 27237051 single base substitution G A intron_variant LINC-JP 16 27237051 27237051 single base substitution G A synonymous_variant I239I 717C>T LINC-JP 16 27247093 27247093 single base substitution C T intron_variant LINC-JP 16 27247093 27247093 single base substitution C T upstream_gene_variant LIRI-JP 16 27234097 27234097 single base substitution G C downstream_gene_variant LIRI-JP 16 27235781 27235781 single base substitution G A downstream_gene_variant LIRI-JP 16 27236422 27236422 single base substitution A G 3_prime_UTR_variant LIRI-JP 16 27236422 27236422 single base substitution A G downstream_gene_variant LIRI-JP 16 27236422 27236422 single base substitution A G exon_variant LIRI-JP 16 27245577 27245577 single base substitution C T 3_prime_UTR_variant LIRI-JP 16 27245577 27245577 single base substitution C T downstream_gene_variant LIRI-JP 16 27245577 27245577 single base substitution C T exon_variant LIRI-JP 16 27245577 27245577 single base substitution C T missense_variant A90T 268G>A LIRI-JP 16 27245577 27245577 single base substitution C T upstream_gene_variant LIRI-JP 16 27246378 27246378 single base substitution T C downstream_gene_variant LIRI-JP 16 27246378 27246378 single base substitution T C intron_variant LIRI-JP 16 27246378 27246378 single base substitution T C upstream_gene_variant LIRI-JP 16 27246856 27246856 single base substitution T C intron_variant LIRI-JP 16 27246856 27246856 single base substitution T C upstream_gene_variant LIRI-JP 16 27249451 27249451 single base substitution C T intron_variant LIRI-JP 16 27251600 27251600 single base substitution T C intron_variant LIRI-JP 16 27256974 27256974 single base substitution A G intron_variant LIRI-JP 16 27257771 27257771 single base substitution T C intron_variant LIRI-JP 16 27257908 27257908 single base substitution T G intron_variant LIRI-JP 16 27258429 27258429 single base substitution T C intron_variant LIRI-JP 16 27259421 27259421 single base substitution C T intron_variant LIRI-JP 16 27259797 27259797 single base substitution T C intron_variant LIRI-JP 16 27263344 27263344 single base substitution A G intron_variant LIRI-JP 16 27263591 27263591 single base substitution C T intron_variant LIRI-JP 16 27265877 27265877 single base substitution G A downstream_gene_variant LIRI-JP 16 27265877 27265877 single base substitution G A intron_variant LIRI-JP 16 27269929 27269929 single base substitution C A intron_variant LIRI-JP 16 27269929 27269929 single base substitution C A upstream_gene_variant LIRI-JP 16 27270797 27270797 single base substitution T A intron_variant LIRI-JP 16 27270797 27270797 single base substitution T A upstream_gene_variant LIRI-JP 16 27272109 27272109 single base substitution G A intron_variant LIRI-JP 16 27272109 27272109 single base substitution G A upstream_gene_variant LIRI-JP 16 27277427 27277427 single base substitution T C downstream_gene_variant LIRI-JP 16 27277427 27277427 single base substitution T C intron_variant LIRI-JP 16 27284394 27284394 single base substitution A G upstream_gene_variant LUSC-KR 16 27239904 27239904 single base substitution A C downstream_gene_variant LUSC-KR 16 27239904 27239904 single base substitution A C intron_variant LUSC-KR 16 27245646 27245646 single base substitution G T downstream_gene_variant LUSC-KR 16 27245646 27245646 single base substitution G T intron_variant LUSC-KR 16 27245646 27245646 single base substitution G T upstream_gene_variant LUSC-KR 16 27246898 27246898 single base substitution T G intron_variant LUSC-KR 16 27246898 27246898 single base substitution T G upstream_gene_variant LUSC-KR 16 27247915 27247915 single base substitution G A intron_variant LUSC-KR 16 27247915 27247915 single base substitution G A upstream_gene_variant LUSC-KR 16 27259247 27259247 single base substitution C A intron_variant LUSC-KR 16 27260444 27260444 single base substitution C A intron_variant LUSC-US 16 27238086 27238086 single base substitution G A 3_prime_UTR_variant LUSC-US 16 27238086 27238086 single base substitution G A exon_variant LUSC-US 16 27238086 27238086 single base substitution G A synonymous_variant P184P 552C>T LUSC-US 16 27238086 27238086 single base substitution G A synonymous_variant P185P 555C>T LUSC-US 16 27238086 27238086 single base substitution G A synonymous_variant P50P 150C>T LUSC-US 16 27246603 27246603 single base substitution T A 3_prime_UTR_variant LUSC-US 16 27246603 27246603 single base substitution T A exon_variant LUSC-US 16 27246603 27246603 single base substitution T A stop_gained K52* 154A>T LUSC-US 16 27246603 27246603 single base substitution T A upstream_gene_variant LUSC-US 16 27268767 27268767 single base substitution T C exon_variant LUSC-US 16 27268767 27268767 single base substitution T C missense_variant K42R 125A>G MALY-DE 16 27231782 27231782 single base substitution G A downstream_gene_variant MALY-DE 16 27234557 27234557 single base substitution C A downstream_gene_variant MALY-DE 16 27236057 27236058 deletion of <=200bp TG - downstream_gene_variant MALY-DE 16 27243036 27243036 single base substitution G C downstream_gene_variant MALY-DE 16 27243036 27243036 single base substitution G C intron_variant MALY-DE 16 27243036 27243036 single base substitution G C upstream_gene_variant MALY-DE 16 27247118 27247118 single base substitution C A intron_variant MALY-DE 16 27247118 27247118 single base substitution C A upstream_gene_variant MALY-DE 16 27253487 27253487 single base substitution A G intron_variant MALY-DE 16 27264433 27264433 insertion of <=200bp - A downstream_gene_variant MALY-DE 16 27264433 27264433 insertion of <=200bp - A intron_variant MALY-DE 16 27277964 27277964 single base substitution T A intron_variant MALY-DE 16 27279578 27279578 single base substitution G T 5_prime_UTR_variant MALY-DE 16 27279578 27279578 single base substitution G T exon_variant MALY-DE 16 27279578 27279578 single base substitution G T intron_variant MALY-DE 16 27280003 27280003 single base substitution C A intron_variant MALY-DE 16 27280003 27280003 single base substitution C A upstream_gene_variant MALY-DE 16 27280021 27280021 single base substitution A T intron_variant MALY-DE 16 27280021 27280021 single base substitution A T upstream_gene_variant MALY-DE 16 27281006 27281006 single base substitution C T upstream_gene_variant MALY-DE 16 27281570 27281570 single base substitution C A upstream_gene_variant MELA-AU 16 27231515 27231515 single base substitution C T downstream_gene_variant MELA-AU 16 27231600 27231600 single base substitution G T downstream_gene_variant MELA-AU 16 27231881 27231881 single base substitution C T downstream_gene_variant MELA-AU 16 27232021 27232021 single base substitution G A downstream_gene_variant MELA-AU 16 27232188 27232189 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 27232462 27232462 single base substitution C T downstream_gene_variant MELA-AU 16 27233424 27233425 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 27234092 27234092 single base substitution G A downstream_gene_variant MELA-AU 16 27235369 27235369 single base substitution G A downstream_gene_variant MELA-AU 16 27235466 27235466 single base substitution G A downstream_gene_variant MELA-AU 16 27235659 27235659 single base substitution C T downstream_gene_variant MELA-AU 16 27235785 27235785 single base substitution G A downstream_gene_variant MELA-AU 16 27235958 27235958 single base substitution G A downstream_gene_variant MELA-AU 16 27236498 27236498 single base substitution G T 3_prime_UTR_variant MELA-AU 16 27236498 27236498 single base substitution G T downstream_gene_variant MELA-AU 16 27236498 27236498 single base substitution G T exon_variant MELA-AU 16 27236498 27236498 single base substitution G T missense_variant L261M 781C>A MELA-AU 16 27237245 27237245 single base substitution G A downstream_gene_variant MELA-AU 16 27237245 27237245 single base substitution G A exon_variant MELA-AU 16 27237245 27237245 single base substitution G A intron_variant MELA-AU 16 27237806 27237806 single base substitution G A downstream_gene_variant MELA-AU 16 27237806 27237806 single base substitution G A exon_variant MELA-AU 16 27237806 27237806 single base substitution G A intron_variant MELA-AU 16 27238632 27238632 single base substitution G A intron_variant MELA-AU 16 27238727 27238727 single base substitution G A intron_variant MELA-AU 16 27238753 27238753 single base substitution C A intron_variant MELA-AU 16 27238756 27238756 single base substitution G A intron_variant MELA-AU 16 27238873 27238873 single base substitution G A intron_variant MELA-AU 16 27239837 27239837 single base substitution C T downstream_gene_variant MELA-AU 16 27239837 27239837 single base substitution C T intron_variant MELA-AU 16 27239838 27239838 single base substitution G A downstream_gene_variant MELA-AU 16 27239838 27239838 single base substitution G A intron_variant MELA-AU 16 27240570 27240570 single base substitution C T downstream_gene_variant MELA-AU 16 27240570 27240570 single base substitution C T intron_variant MELA-AU 16 27240651 27240651 single base substitution A C downstream_gene_variant MELA-AU 16 27240651 27240651 single base substitution A C intron_variant MELA-AU 16 27240720 27240720 single base substitution G A downstream_gene_variant MELA-AU 16 27240720 27240720 single base substitution G A intron_variant MELA-AU 16 27240769 27240769 single base substitution G A downstream_gene_variant MELA-AU 16 27240769 27240769 single base substitution G A intron_variant MELA-AU 16 27240961 27240961 single base substitution G A downstream_gene_variant MELA-AU 16 27240961 27240961 single base substitution G A intron_variant MELA-AU 16 27241881 27241881 single base substitution G A downstream_gene_variant MELA-AU 16 27241881 27241881 single base substitution G A intron_variant MELA-AU 16 27242120 27242120 single base substitution C T downstream_gene_variant MELA-AU 16 27242120 27242120 single base substitution C T exon_variant MELA-AU 16 27242120 27242120 single base substitution C T intron_variant MELA-AU 16 27242232 27242232 single base substitution G A downstream_gene_variant MELA-AU 16 27242232 27242232 single base substitution G A intron_variant MELA-AU 16 27242232 27242232 single base substitution G A upstream_gene_variant MELA-AU 16 27242233 27242233 single base substitution G A downstream_gene_variant MELA-AU 16 27242233 27242233 single base substitution G A intron_variant MELA-AU 16 27242233 27242233 single base substitution G A upstream_gene_variant MELA-AU 16 27242721 27242721 single base substitution G A downstream_gene_variant MELA-AU 16 27242721 27242721 single base substitution G A intron_variant MELA-AU 16 27242721 27242721 single base substitution G A upstream_gene_variant MELA-AU 16 27242987 27242987 single base substitution G A downstream_gene_variant MELA-AU 16 27242987 27242987 single base substitution G A intron_variant MELA-AU 16 27242987 27242987 single base substitution G A upstream_gene_variant MELA-AU 16 27243340 27243340 single base substitution G A downstream_gene_variant MELA-AU 16 27243340 27243340 single base substitution G A intron_variant MELA-AU 16 27243340 27243340 single base substitution G A upstream_gene_variant MELA-AU 16 27243624 27243624 single base substitution G A downstream_gene_variant MELA-AU 16 27243624 27243624 single base substitution G A intron_variant MELA-AU 16 27243624 27243624 single base substitution G A upstream_gene_variant MELA-AU 16 27243905 27243905 single base substitution C T downstream_gene_variant MELA-AU 16 27243905 27243905 single base substitution C T intron_variant MELA-AU 16 27243905 27243905 single base substitution C T upstream_gene_variant MELA-AU 16 27244227 27244227 single base substitution C T downstream_gene_variant MELA-AU 16 27244227 27244227 single base substitution C T intron_variant MELA-AU 16 27244227 27244227 single base substitution C T upstream_gene_variant MELA-AU 16 27244394 27244394 single base substitution T C 3_prime_UTR_variant MELA-AU 16 27244394 27244394 single base substitution T C downstream_gene_variant MELA-AU 16 27244394 27244394 single base substitution T C exon_variant MELA-AU 16 27244394 27244394 single base substitution T C synonymous_variant K137K 411A>G MELA-AU 16 27244394 27244394 single base substitution T C synonymous_variant K2K 6A>G MELA-AU 16 27244394 27244394 single base substitution T C upstream_gene_variant MELA-AU 16 27244472 27244472 single base substitution G A downstream_gene_variant MELA-AU 16 27244472 27244472 single base substitution G A intron_variant MELA-AU 16 27244472 27244472 single base substitution G A splice_region_variant MELA-AU 16 27244472 27244472 single base substitution G A upstream_gene_variant MELA-AU 16 27244503 27244503 single base substitution A C downstream_gene_variant MELA-AU 16 27244503 27244503 single base substitution A C intron_variant MELA-AU 16 27244503 27244503 single base substitution A C upstream_gene_variant MELA-AU 16 27244631 27244631 single base substitution G A downstream_gene_variant MELA-AU 16 27244631 27244631 single base substitution G A intron_variant MELA-AU 16 27244631 27244631 single base substitution G A upstream_gene_variant MELA-AU 16 27244821 27244821 single base substitution C T downstream_gene_variant MELA-AU 16 27244821 27244821 single base substitution C T intron_variant MELA-AU 16 27244821 27244821 single base substitution C T upstream_gene_variant MELA-AU 16 27244908 27244908 single base substitution G A downstream_gene_variant MELA-AU 16 27244908 27244908 single base substitution G A intron_variant MELA-AU 16 27244908 27244908 single base substitution G A upstream_gene_variant MELA-AU 16 27245177 27245177 single base substitution G A downstream_gene_variant MELA-AU 16 27245177 27245177 single base substitution G A intron_variant MELA-AU 16 27245177 27245177 single base substitution G A upstream_gene_variant MELA-AU 16 27245726 27245726 single base substitution G A downstream_gene_variant MELA-AU 16 27245726 27245726 single base substitution G A intron_variant MELA-AU 16 27245726 27245726 single base substitution G A upstream_gene_variant MELA-AU 16 27245812 27245812 single base substitution G A downstream_gene_variant MELA-AU 16 27245812 27245812 single base substitution G A intron_variant MELA-AU 16 27245812 27245812 single base substitution G A upstream_gene_variant MELA-AU 16 27246169 27246169 single base substitution G A downstream_gene_variant MELA-AU 16 27246169 27246169 single base substitution G A intron_variant MELA-AU 16 27246169 27246169 single base substitution G A upstream_gene_variant MELA-AU 16 27247055 27247055 single base substitution T C intron_variant MELA-AU 16 27247055 27247055 single base substitution T C upstream_gene_variant MELA-AU 16 27247133 27247133 single base substitution A C intron_variant MELA-AU 16 27247133 27247133 single base substitution A C upstream_gene_variant MELA-AU 16 27247505 27247505 single base substitution C T intron_variant MELA-AU 16 27247505 27247505 single base substitution C T upstream_gene_variant MELA-AU 16 27247575 27247575 single base substitution G A intron_variant MELA-AU 16 27247575 27247575 single base substitution G A upstream_gene_variant MELA-AU 16 27247943 27247943 single base substitution G A intron_variant MELA-AU 16 27247943 27247943 single base substitution G A upstream_gene_variant MELA-AU 16 27248173 27248173 single base substitution G A intron_variant MELA-AU 16 27248173 27248173 single base substitution G A upstream_gene_variant MELA-AU 16 27248701 27248701 single base substitution G A intron_variant MELA-AU 16 27248701 27248701 single base substitution G A upstream_gene_variant MELA-AU 16 27249084 27249084 single base substitution G A intron_variant MELA-AU 16 27249084 27249084 single base substitution G A upstream_gene_variant MELA-AU 16 27249162 27249162 single base substitution C T intron_variant MELA-AU 16 27249162 27249162 single base substitution C T upstream_gene_variant MELA-AU 16 27250384 27250384 single base substitution G A intron_variant MELA-AU 16 27250653 27250653 single base substitution G A intron_variant MELA-AU 16 27251070 27251070 single base substitution G A intron_variant MELA-AU 16 27251425 27251425 single base substitution G A intron_variant MELA-AU 16 27251727 27251727 single base substitution G A intron_variant MELA-AU 16 27252523 27252523 single base substitution G A intron_variant MELA-AU 16 27252777 27252777 single base substitution G A 3_prime_UTR_variant MELA-AU 16 27252777 27252777 single base substitution G A intron_variant MELA-AU 16 27254472 27254472 single base substitution C T intron_variant MELA-AU 16 27254750 27254750 deletion of <=200bp A - intron_variant MELA-AU 16 27254992 27254992 single base substitution G A intron_variant MELA-AU 16 27255745 27255746 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 27255790 27255790 single base substitution G A intron_variant MELA-AU 16 27255861 27255861 single base substitution A G intron_variant MELA-AU 16 27256093 27256093 single base substitution G A intron_variant MELA-AU 16 27256319 27256319 single base substitution T C intron_variant MELA-AU 16 27256568 27256568 single base substitution G A intron_variant MELA-AU 16 27257231 27257231 single base substitution T C intron_variant MELA-AU 16 27257373 27257373 single base substitution G A intron_variant MELA-AU 16 27259444 27259444 single base substitution C T intron_variant MELA-AU 16 27261194 27261194 single base substitution C T intron_variant MELA-AU 16 27261726 27261726 single base substitution G A intron_variant MELA-AU 16 27261819 27261819 single base substitution C G intron_variant MELA-AU 16 27262121 27262121 single base substitution A G intron_variant MELA-AU 16 27262136 27262136 single base substitution A T intron_variant MELA-AU 16 27262606 27262606 single base substitution C T intron_variant MELA-AU 16 27263526 27263526 single base substitution G A intron_variant MELA-AU 16 27266291 27266291 single base substitution C T downstream_gene_variant MELA-AU 16 27266291 27266291 single base substitution C T intron_variant MELA-AU 16 27268022 27268022 single base substitution A G downstream_gene_variant MELA-AU 16 27268022 27268022 single base substitution A G intron_variant MELA-AU 16 27268849 27268849 single base substitution G A exon_variant MELA-AU 16 27268849 27268849 single base substitution G A missense_variant H15Y 43C>T MELA-AU 16 27269070 27269070 single base substitution G A intron_variant MELA-AU 16 27270569 27270569 single base substitution A T intron_variant MELA-AU 16 27270569 27270569 single base substitution A T upstream_gene_variant MELA-AU 16 27270571 27270571 single base substitution C T intron_variant MELA-AU 16 27270571 27270571 single base substitution C T upstream_gene_variant MELA-AU 16 27270719 27270719 single base substitution C T intron_variant MELA-AU 16 27270719 27270719 single base substitution C T upstream_gene_variant MELA-AU 16 27273014 27273014 single base substitution A G downstream_gene_variant MELA-AU 16 27273014 27273014 single base substitution A G intron_variant MELA-AU 16 27273014 27273014 single base substitution A G upstream_gene_variant MELA-AU 16 27274419 27274419 single base substitution G A downstream_gene_variant MELA-AU 16 27274419 27274419 single base substitution G A intron_variant MELA-AU 16 27274419 27274419 single base substitution G A upstream_gene_variant MELA-AU 16 27274667 27274668 multiple base substitution (>=2bp and <=200bp) TG AT downstream_gene_variant MELA-AU 16 27274667 27274668 multiple base substitution (>=2bp and <=200bp) TG AT intron_variant MELA-AU 16 27274884 27274884 single base substitution G A downstream_gene_variant MELA-AU 16 27274884 27274884 single base substitution G A intron_variant MELA-AU 16 27274918 27274918 single base substitution G A downstream_gene_variant MELA-AU 16 27274918 27274918 single base substitution G A intron_variant MELA-AU 16 27275010 27275010 single base substitution C A downstream_gene_variant MELA-AU 16 27275010 27275010 single base substitution C A intron_variant MELA-AU 16 27275521 27275521 single base substitution C T downstream_gene_variant MELA-AU 16 27275521 27275521 single base substitution C T intron_variant MELA-AU 16 27275638 27275638 single base substitution G A downstream_gene_variant MELA-AU 16 27275638 27275638 single base substitution G A intron_variant MELA-AU 16 27275979 27275979 single base substitution G A downstream_gene_variant MELA-AU 16 27275979 27275979 single base substitution G A intron_variant MELA-AU 16 27277610 27277610 single base substitution G A downstream_gene_variant MELA-AU 16 27277610 27277610 single base substitution G A intron_variant MELA-AU 16 27277665 27277665 single base substitution G C exon_variant MELA-AU 16 27277665 27277665 single base substitution G C intron_variant MELA-AU 16 27277921 27277921 single base substitution G A exon_variant MELA-AU 16 27277921 27277921 single base substitution G A intron_variant MELA-AU 16 27278107 27278107 single base substitution G A intron_variant MELA-AU 16 27279130 27279130 single base substitution A G intron_variant MELA-AU 16 27279904 27279904 single base substitution G A intron_variant MELA-AU 16 27279904 27279904 single base substitution G A upstream_gene_variant MELA-AU 16 27280086 27280086 single base substitution C T 5_prime_UTR_variant MELA-AU 16 27280086 27280086 single base substitution C T upstream_gene_variant MELA-AU 16 27280094 27280094 single base substitution G A 5_prime_UTR_variant MELA-AU 16 27280094 27280094 single base substitution G A upstream_gene_variant MELA-AU 16 27280110 27280110 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 16 27280110 27280110 single base substitution G A upstream_gene_variant MELA-AU 16 27280171 27280171 single base substitution C T upstream_gene_variant MELA-AU 16 27280306 27280306 single base substitution C T upstream_gene_variant MELA-AU 16 27280346 27280346 single base substitution C T upstream_gene_variant MELA-AU 16 27280390 27280390 single base substitution C T upstream_gene_variant MELA-AU 16 27280743 27280743 single base substitution G A upstream_gene_variant MELA-AU 16 27281423 27281423 single base substitution G A upstream_gene_variant MELA-AU 16 27282013 27282013 single base substitution C T upstream_gene_variant MELA-AU 16 27282880 27282880 single base substitution G A upstream_gene_variant MELA-AU 16 27282886 27282886 single base substitution A G upstream_gene_variant MELA-AU 16 27283097 27283097 single base substitution T A upstream_gene_variant MELA-AU 16 27283203 27283203 single base substitution C T upstream_gene_variant MELA-AU 16 27283204 27283204 single base substitution C T upstream_gene_variant MELA-AU 16 27283433 27283433 single base substitution C T upstream_gene_variant MELA-AU 16 27284502 27284502 single base substitution C T upstream_gene_variant MELA-AU 16 27284812 27284812 single base substitution T G upstream_gene_variant MELA-AU 16 27284837 27284837 single base substitution C T upstream_gene_variant MELA-AU 16 27284937 27284937 single base substitution C T upstream_gene_variant MELA-AU 16 27284976 27284976 single base substitution G A upstream_gene_variant ORCA-IN 16 27236496 27236496 single base substitution C T 3_prime_UTR_variant ORCA-IN 16 27236496 27236496 single base substitution C T downstream_gene_variant ORCA-IN 16 27236496 27236496 single base substitution C T exon_variant ORCA-IN 16 27236496 27236496 single base substitution C T synonymous_variant L261L 783G>A ORCA-IN 16 27238154 27238154 single base substitution C A 3_prime_UTR_variant ORCA-IN 16 27238154 27238154 single base substitution C A exon_variant ORCA-IN 16 27238154 27238154 single base substitution C A stop_gained E162* 484G>T ORCA-IN 16 27238154 27238154 single base substitution C A stop_gained E163* 487G>T ORCA-IN 16 27238154 27238154 single base substitution C A stop_gained E28* 82G>T ORCA-IN 16 27242742 27242742 single base substitution G A downstream_gene_variant ORCA-IN 16 27242742 27242742 single base substitution G A intron_variant ORCA-IN 16 27242742 27242742 single base substitution G A upstream_gene_variant ORCA-IN 16 27247743 27247743 single base substitution G A intron_variant ORCA-IN 16 27247743 27247743 single base substitution G A upstream_gene_variant ORCA-IN 16 27283698 27283698 single base substitution C A upstream_gene_variant OV-AU 16 27231573 27231573 single base substitution G A downstream_gene_variant OV-AU 16 27234771 27234771 single base substitution G A downstream_gene_variant OV-AU 16 27236297 27236297 single base substitution T C downstream_gene_variant OV-AU 16 27258059 27258059 single base substitution C G intron_variant OV-AU 16 27260082 27260082 single base substitution C T intron_variant OV-AU 16 27261271 27261271 single base substitution G C intron_variant OV-AU 16 27268174 27268174 single base substitution C T downstream_gene_variant OV-AU 16 27268174 27268174 single base substitution C T intron_variant OV-AU 16 27281468 27281468 single base substitution A T upstream_gene_variant OV-AU 16 27281593 27281593 single base substitution G A upstream_gene_variant PACA-AU 16 27231541 27231541 single base substitution C A downstream_gene_variant PACA-AU 16 27231803 27231803 single base substitution C T downstream_gene_variant PACA-AU 16 27236066 27236066 single base substitution G T downstream_gene_variant PACA-AU 16 27237056 27237056 single base substitution C T 3_prime_UTR_variant PACA-AU 16 27237056 27237056 single base substitution C T downstream_gene_variant PACA-AU 16 27237056 27237056 single base substitution C T exon_variant PACA-AU 16 27237056 27237056 single base substitution C T intron_variant PACA-AU 16 27237056 27237056 single base substitution C T missense_variant E238K 712G>A PACA-AU 16 27238011 27238011 single base substitution A T downstream_gene_variant PACA-AU 16 27238011 27238011 single base substitution A T exon_variant PACA-AU 16 27238011 27238011 single base substitution A T intron_variant PACA-AU 16 27238523 27238523 single base substitution C T intron_variant PACA-AU 16 27238613 27238613 single base substitution C T intron_variant PACA-AU 16 27239090 27239090 single base substitution G A intron_variant PACA-AU 16 27244369 27244369 single base substitution C T 3_prime_UTR_variant PACA-AU 16 27244369 27244369 single base substitution C T downstream_gene_variant PACA-AU 16 27244369 27244369 single base substitution C T exon_variant PACA-AU 16 27244369 27244369 single base substitution C T missense_variant A11T 31G>A PACA-AU 16 27244369 27244369 single base substitution C T missense_variant A146T 436G>A PACA-AU 16 27244369 27244369 single base substitution C T upstream_gene_variant PACA-AU 16 27245012 27245012 single base substitution G A downstream_gene_variant PACA-AU 16 27245012 27245012 single base substitution G A intron_variant PACA-AU 16 27245012 27245012 single base substitution G A upstream_gene_variant PACA-AU 16 27245171 27245171 single base substitution C T downstream_gene_variant PACA-AU 16 27245171 27245171 single base substitution C T intron_variant PACA-AU 16 27245171 27245171 single base substitution C T upstream_gene_variant PACA-AU 16 27246981 27246981 single base substitution G A intron_variant PACA-AU 16 27246981 27246981 single base substitution G A upstream_gene_variant PACA-AU 16 27255977 27255977 deletion of <=200bp A - intron_variant PACA-AU 16 27265016 27265017 deletion of <=200bp AT - downstream_gene_variant PACA-AU 16 27265016 27265017 deletion of <=200bp AT - intron_variant PACA-AU 16 27265017 27265017 deletion of <=200bp T - downstream_gene_variant PACA-AU 16 27265017 27265017 deletion of <=200bp T - intron_variant PACA-AU 16 27272459 27272459 single base substitution G C intron_variant PACA-AU 16 27272459 27272459 single base substitution G C upstream_gene_variant PACA-AU 16 27273122 27273124 deletion of <=200bp CAG - downstream_gene_variant PACA-AU 16 27273122 27273124 deletion of <=200bp CAG - intron_variant PACA-AU 16 27273122 27273124 deletion of <=200bp CAG - upstream_gene_variant PACA-AU 16 27276665 27276665 insertion of <=200bp - T downstream_gene_variant PACA-AU 16 27276665 27276665 insertion of <=200bp - T intron_variant PACA-AU 16 27282911 27282911 single base substitution A C upstream_gene_variant PACA-AU 16 27284072 27284072 single base substitution C T upstream_gene_variant PACA-CA 16 27232088 27232088 single base substitution G A downstream_gene_variant PACA-CA 16 27233654 27233654 single base substitution C T downstream_gene_variant PACA-CA 16 27247513 27247513 single base substitution G A intron_variant PACA-CA 16 27247513 27247513 single base substitution G A upstream_gene_variant PACA-CA 16 27250303 27250303 single base substitution G A intron_variant PACA-CA 16 27251190 27251190 single base substitution G A intron_variant PACA-CA 16 27253015 27253015 single base substitution G A 3_prime_UTR_variant PACA-CA 16 27253015 27253015 single base substitution G A intron_variant PACA-CA 16 27253981 27253981 single base substitution A G intron_variant PACA-CA 16 27257236 27257236 single base substitution G A intron_variant PACA-CA 16 27258560 27258560 single base substitution T C intron_variant PACA-CA 16 27263438 27263438 single base substitution G A intron_variant PACA-CA 16 27264964 27264964 single base substitution T C downstream_gene_variant PACA-CA 16 27264964 27264964 single base substitution T C intron_variant PACA-CA 16 27267395 27267395 deletion of <=200bp T - downstream_gene_variant PACA-CA 16 27267395 27267395 deletion of <=200bp T - intron_variant PACA-CA 16 27269308 27269308 single base substitution T G intron_variant PACA-CA 16 27271287 27271287 deletion of <=200bp A - intron_variant PACA-CA 16 27271287 27271287 deletion of <=200bp A - upstream_gene_variant PACA-CA 16 27272016 27272016 insertion of <=200bp - A intron_variant PACA-CA 16 27272016 27272016 insertion of <=200bp - A upstream_gene_variant PACA-CA 16 27274313 27274313 single base substitution T A downstream_gene_variant PACA-CA 16 27274313 27274313 single base substitution T A intron_variant PACA-CA 16 27274313 27274313 single base substitution T A upstream_gene_variant PACA-CA 16 27280199 27280199 single base substitution G C upstream_gene_variant PACA-CA 16 27280216 27280216 single base substitution G A upstream_gene_variant PACA-CA 16 27281964 27281964 single base substitution C T upstream_gene_variant PACA-CA 16 27282873 27282873 single base substitution C T upstream_gene_variant PAEN-AU 16 27253980 27253980 single base substitution C A intron_variant PBCA-DE 16 27232883 27232883 single base substitution T C downstream_gene_variant PBCA-DE 16 27235604 27235604 single base substitution A C downstream_gene_variant PBCA-DE 16 27237503 27237503 insertion of <=200bp - A downstream_gene_variant PBCA-DE 16 27237503 27237503 insertion of <=200bp - A exon_variant PBCA-DE 16 27237503 27237503 insertion of <=200bp - A intron_variant PBCA-DE 16 27246165 27246165 single base substitution T A downstream_gene_variant PBCA-DE 16 27246165 27246165 single base substitution T A intron_variant PBCA-DE 16 27246165 27246165 single base substitution T A upstream_gene_variant PBCA-DE 16 27267462 27267462 single base substitution C T downstream_gene_variant PBCA-DE 16 27267462 27267462 single base substitution C T intron_variant PBCA-DE 16 27273390 27273390 single base substitution C T downstream_gene_variant PBCA-DE 16 27273390 27273390 single base substitution C T intron_variant PBCA-DE 16 27273390 27273390 single base substitution C T upstream_gene_variant PBCA-DE 16 27279056 27279056 deletion of <=200bp T - intron_variant PBCA-DE 16 27284557 27284557 single base substitution C T upstream_gene_variant PRAD-CA 16 27232404 27232404 single base substitution G C downstream_gene_variant PRAD-CA 16 27262512 27262512 single base substitution A T intron_variant PRAD-UK 16 27238270 27238270 single base substitution G A intron_variant PRAD-UK 16 27246562 27246562 single base substitution C G 3_prime_UTR_variant PRAD-UK 16 27246562 27246562 single base substitution C G exon_variant PRAD-UK 16 27246562 27246562 single base substitution C G missense_variant E65D 195G>C PRAD-UK 16 27246562 27246562 single base substitution C G upstream_gene_variant PRAD-UK 16 27251831 27251831 single base substitution G A intron_variant PRAD-UK 16 27256468 27256468 single base substitution G A intron_variant PRAD-UK 16 27257569 27257569 single base substitution G A intron_variant PRAD-UK 16 27258919 27258919 single base substitution A G intron_variant PRAD-UK 16 27269605 27269609 deletion of <=200bp GCCCT - intron_variant PRAD-UK 16 27269605 27269609 deletion of <=200bp GCCCT - upstream_gene_variant PRAD-UK 16 27276078 27276087 deletion of <=200bp AGGAATATAC - downstream_gene_variant PRAD-UK 16 27276078 27276087 deletion of <=200bp AGGAATATAC - intron_variant PRAD-UK 16 27281743 27281743 single base substitution T C upstream_gene_variant READ-US 16 27231979 27231979 single base substitution C A downstream_gene_variant RECA-EU 16 27241575 27241575 single base substitution G A downstream_gene_variant RECA-EU 16 27241575 27241575 single base substitution G A intron_variant RECA-EU 16 27266531 27266531 single base substitution C T downstream_gene_variant RECA-EU 16 27266531 27266531 single base substitution C T intron_variant RECA-EU 16 27275824 27275824 single base substitution T A downstream_gene_variant RECA-EU 16 27275824 27275824 single base substitution T A intron_variant RECA-EU 16 27277614 27277614 single base substitution G T downstream_gene_variant RECA-EU 16 27277614 27277614 single base substitution G T intron_variant RECA-EU 16 27279104 27279104 single base substitution A G intron_variant RECA-EU 16 27283388 27283388 single base substitution G T upstream_gene_variant SKCA-BR 16 27232433 27232433 single base substitution T C downstream_gene_variant SKCA-BR 16 27233196 27233196 single base substitution T C downstream_gene_variant SKCA-BR 16 27235170 27235170 single base substitution G A downstream_gene_variant SKCA-BR 16 27237014 27237014 single base substitution G A downstream_gene_variant SKCA-BR 16 27237014 27237014 single base substitution G A intron_variant SKCA-BR 16 27239104 27239104 single base substitution C T intron_variant SKCA-BR 16 27241327 27241327 single base substitution G A downstream_gene_variant SKCA-BR 16 27241327 27241327 single base substitution G A intron_variant SKCA-BR 16 27243449 27243449 single base substitution G A downstream_gene_variant SKCA-BR 16 27243449 27243449 single base substitution G A intron_variant SKCA-BR 16 27243449 27243449 single base substitution G A upstream_gene_variant SKCA-BR 16 27244789 27244789 single base substitution A G downstream_gene_variant SKCA-BR 16 27244789 27244789 single base substitution A G intron_variant SKCA-BR 16 27244789 27244789 single base substitution A G upstream_gene_variant SKCA-BR 16 27249903 27249903 single base substitution G A intron_variant SKCA-BR 16 27253036 27253036 single base substitution T G 3_prime_UTR_variant SKCA-BR 16 27253036 27253036 single base substitution T G intron_variant SKCA-BR 16 27256272 27256272 single base substitution C T intron_variant SKCA-BR 16 27259716 27259716 single base substitution G A intron_variant SKCA-BR 16 27262121 27262121 single base substitution A C intron_variant SKCA-BR 16 27265998 27265998 single base substitution C T downstream_gene_variant SKCA-BR 16 27265998 27265998 single base substitution C T intron_variant SKCA-BR 16 27279023 27279023 single base substitution T A intron_variant SKCA-BR 16 27280149 27280149 single base substitution C T upstream_gene_variant SKCA-BR 16 27280219 27280219 single base substitution A T upstream_gene_variant SKCA-BR 16 27282870 27282870 insertion of <=200bp - ACGCG upstream_gene_variant SKCA-BR 16 27282880 27282880 insertion of <=200bp - GCGCGCGCACA upstream_gene_variant SKCM-US 16 27231718 27231718 single base substitution T C downstream_gene_variant SKCM-US 16 27231785 27231785 single base substitution C T downstream_gene_variant SKCM-US 16 27238100 27238100 single base substitution G A 3_prime_UTR_variant SKCM-US 16 27238100 27238100 single base substitution G A exon_variant SKCM-US 16 27238100 27238100 single base substitution G A missense_variant R180W 538C>T SKCM-US 16 27238100 27238100 single base substitution G A missense_variant R181W 541C>T SKCM-US 16 27238100 27238100 single base substitution G A missense_variant R46W 136C>T SKCM-US 16 27238131 27238131 single base substitution G A 3_prime_UTR_variant SKCM-US 16 27238131 27238131 single base substitution G A exon_variant SKCM-US 16 27238131 27238131 single base substitution G A synonymous_variant G169G 507C>T SKCM-US 16 27238131 27238131 single base substitution G A synonymous_variant G170G 510C>T SKCM-US 16 27238131 27238131 single base substitution G A synonymous_variant G35G 105C>T SKCM-US 16 27244394 27244394 single base substitution T C 3_prime_UTR_variant SKCM-US 16 27244394 27244394 single base substitution T C downstream_gene_variant SKCM-US 16 27244394 27244394 single base substitution T C exon_variant SKCM-US 16 27244394 27244394 single base substitution T C synonymous_variant K137K 411A>G SKCM-US 16 27244394 27244394 single base substitution T C synonymous_variant K2K 6A>G SKCM-US 16 27244394 27244394 single base substitution T C upstream_gene_variant STAD-US 16 27231806 27231806 single base substitution G T downstream_gene_variant STAD-US 16 27232030 27232030 single base substitution G T downstream_gene_variant STAD-US 16 27237123 27237123 single base substitution G A 3_prime_UTR_variant STAD-US 16 27237123 27237123 single base substitution G A downstream_gene_variant STAD-US 16 27237123 27237123 single base substitution G A exon_variant STAD-US 16 27237123 27237123 single base substitution G A intron_variant STAD-US 16 27237123 27237123 single base substitution G A synonymous_variant C215C 645C>T STAD-US 16 27238064 27238064 single base substitution T C 3_prime_UTR_variant STAD-US 16 27238064 27238064 single base substitution T C exon_variant STAD-US 16 27238064 27238064 single base substitution T C missense_variant I192V 574A>G STAD-US 16 27238064 27238064 single base substitution T C missense_variant I193V 577A>G STAD-US 16 27238064 27238064 single base substitution T C missense_variant I58V 172A>G STAD-US 16 27246576 27246576 single base substitution T C 3_prime_UTR_variant STAD-US 16 27246576 27246576 single base substitution T C exon_variant STAD-US 16 27246576 27246576 single base substitution T C missense_variant N61D 181A>G STAD-US 16 27246576 27246576 single base substitution T C upstream_gene_variant THCA-SA 16 27231729 27231729 deletion of <=200bp T - downstream_gene_variant THCA-SA 16 27232851 27232851 single base substitution G A downstream_gene_variant UCEC-US 16 27231783 27231783 single base substitution C T downstream_gene_variant UCEC-US 16 27232047 27232047 single base substitution C T downstream_gene_variant UCEC-US 16 27236512 27236512 single base substitution G A 3_prime_UTR_variant UCEC-US 16 27236512 27236512 single base substitution G A downstream_gene_variant UCEC-US 16 27236512 27236512 single base substitution G A exon_variant UCEC-US 16 27236512 27236512 single base substitution G A missense_variant S256L 767C>T UCEC-US 16 27236549 27236549 single base substitution C T 3_prime_UTR_variant UCEC-US 16 27236549 27236549 single base substitution C T downstream_gene_variant UCEC-US 16 27236549 27236549 single base substitution C T exon_variant UCEC-US 16 27236549 27236549 single base substitution C T missense_variant D244N 730G>A UCEC-US 16 27236549 27236549 single base substitution C T synonymous_variant S68S 204G>A UCEC-US 16 27238085 27238085 single base substitution C T 3_prime_UTR_variant UCEC-US 16 27238085 27238085 single base substitution C T exon_variant UCEC-US 16 27238085 27238085 single base substitution C T missense_variant D185N 553G>A UCEC-US 16 27238085 27238085 single base substitution C T missense_variant D186N 556G>A UCEC-US 16 27238085 27238085 single base substitution C T missense_variant D51N 151G>A UCEC-US 16 27238129 27238129 single base substitution C T 3_prime_UTR_variant UCEC-US 16 27238129 27238129 single base substitution C T exon_variant UCEC-US 16 27238129 27238129 single base substitution C T missense_variant R170Q 509G>A UCEC-US 16 27238129 27238129 single base substitution C T missense_variant R171Q 512G>A UCEC-US 16 27238129 27238129 single base substitution C T missense_variant R36Q 107G>A UCEC-US 16 27268779 27268779 single base substitution G A exon_variant UCEC-US 16 27268779 27268779 single base substitution G A missense_variant T38M 113C>T UCEC-US 16 27268865 27268865 single base substitution G A exon_variant UCEC-US 16 27268865 27268865 single base substitution G A synonymous_variant G9G 27C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand OSCC-GB_00620111 COSM4881233 c.487G>T p.E163* Substitution - Nonsense 16:27226833-27226833 - SH-0622 COSM5018739 c.164A>G p.D55G Substitution - Missense 16:27235272-27235272 - TCGA-B5-A0JY-01 COSM262477 c.730G>A p.D244N Substitution - Missense 16:27225228-27225228 - TCGA-B5-A0JZ-01 COSM969220 c.512G>A p.R171Q Substitution - Missense 16:27226808-27226808 - MTCA06 COSM1237694 c.187delG p.V63fs*9 Deletion - Frameshift 16:27235249-27235249 - NB-1092 COSM1286705 c.258+1G>C p.? Unknown 16:27235177-27235177 - TCGA-FD-A3B7-01 COSM1301783 c.88G>A p.E30K Substitution - Missense 16:27257483-27257483 - 467 COSM4437302 c.438G>A p.A146A Substitution - coding silent 16:27233046-27233046 - TCGA-AM-5820-01 COSM3754814 c.113C>G p.T38R Substitution - Missense 16:27257458-27257458 - TCGA-D1-A103-01 COSM969219 c.556G>A p.D186N Substitution - Missense 16:27226764-27226764 - CRC-2 COSM304720 c.103C>T p.R35C Substitution - Missense 16:27257468-27257468 - ESCC_76 COSM5635104 c.302T>C p.F101S Substitution - Missense 16:27234222-27234222 - I2L-P19Ta-Tumor-Biopsy COSM5363201 c.176_178delACA p.N59delN Deletion - In frame 16:27235258-27235260 - LS411 COSM3108690 c.509G>A p.G170D Substitution - Missense 16:27226811-27226811 - TCGA-D1-A167-01 COSM969222 c.113C>T p.T38M Substitution - Missense 16:27257458-27257458 - RK308_C01 COSM3741864 c.268G>A p.A90T Substitution - Missense 16:27234256-27234256 - TCGA-EE-A2MP-06 COSM3508169 c.510C>T p.G170G Substitution - coding silent 16:27226810-27226810 - TCGA-AP-A0LM-01 COSM262477 c.730G>A p.D244N Substitution - Missense 16:27225228-27225228 - CSCC-10-T COSM4474167 c.189C>T p.V63V Substitution - coding silent 16:27235247-27235247 - Pat_60_B COSM5850567 c.46C>T p.R16W Substitution - Missense 16:27257525-27257525 - TCGA-CA-6717-01 COSM969218 c.767C>T p.S256L Substitution - Missense 16:27225191-27225191 - YUSMI COSM5384604 c.259-1G>A p.? Unknown 16:27234266-27234266 - ATL007 COSM5706090 c.413G>A p.G138D Substitution - Missense 16:27233071-27233071 - 8044594 COSM3387345 c.436G>A p.A146T Substitution - Missense 16:27233048-27233048 - TCGA-G2-A2EC-01 COSM1301782 c.221G>A p.G74E Substitution - Missense 16:27235215-27235215 - 18 COSM5745285 c.776delA p.K259fs*>8 Deletion - Frameshift 16:27225182-27225182 - HCT8 COSM3108686 c.633G>A p.M211I Substitution - Missense 16:27225814-27225814 - OSCC-GB_00320111 COSM3711991 c.783G>A p.L261L Substitution - coding silent 16:27225175-27225175 - 32T COSM3711991 c.783G>A p.L261L Substitution - coding silent 16:27225175-27225175 - TCGA-AX-A0J0-01 COSM262477 c.730G>A p.D244N Substitution - Missense 16:27225228-27225228 - TCGA-CC-A7IH-01 COSM4924051 c.59A>G p.Q20R Substitution - Missense 16:27257512-27257512 - GC_370T-GC_370N COSM4773217 c.17G>T p.R6M Substitution - Missense 16:27257554-27257554 - TCGA-AZ-6598-01 COSM1377002 c.79G>A p.V27M Substitution - Missense 16:27257492-27257492 - TCGA-22-5489-01 COSM702838 c.555C>T p.P185P Substitution - coding silent 16:27226765-27226765 - TCGA-37-5819-01 COSM702837 c.154A>T p.K52* Substitution - Nonsense 16:27235282-27235282 - CHC2103T COSM4952601 c.431A>G p.K144R Substitution - Missense 16:27233053-27233053 - TCGA-D8-A1J9-01 COSM1478714 c.579C>T p.I193I Substitution - coding silent 16:27226741-27226741 - TCGA-AP-A051-01 COSM969223 c.27C>T p.G9G Substitution - coding silent 16:27257544-27257544 - TCGA-G4-6320-01 COSM3690879 c.679C>T p.R227C Substitution - Missense 16:27225768-27225768 - BN02T COSM1609125 c.717C>T p.I239I Substitution - coding silent 16:27225730-27225730 - TCGA-ER-A19K-01 COSM3508168 c.541C>T p.R181W Substitution - Missense 16:27226779-27226779 - TCGA-AP-A0LM-01 COSM969218 c.767C>T p.S256L Substitution - Missense 16:27225191-27225191 - TCGA-B5-A0JZ-01 COSM969221 c.363C>T p.T121T Substitution - coding silent 16:27233121-27233121 - TCGA-D7-6528-01 COSM4059623 c.577A>G p.I193V Substitution - Missense 16:27226743-27226743 - CSCC-31-T COSM4446704 c.137-3C>T p.? Unknown 16:27235302-27235302 - TCGA-22-1012-01 COSM702836 c.125A>G p.K42R Substitution - Missense 16:27257446-27257446 - I2L-P19Ta-Tumor-Organoid COSM5363201 c.176_178delACA p.N59delN Deletion - In frame 16:27235258-27235260 - TCGA-AG-A002-01 COSM262477 c.730G>A p.D244N Substitution - Missense 16:27225228-27225228 - 419 COSM4431919 c.683G>T p.C228F Substitution - Missense 16:27225764-27225764 - TCGA-BH-A0W7-01 COSM434991 c.502C>T p.L168L Substitution - coding silent 16:27226818-27226818 - sysucc-823T COSM5461721 c.265C>A p.L89I Substitution - Missense 16:27234259-27234259 - ESO-859 COSM304720 c.103C>T p.R35C Substitution - Missense 16:27257468-27257468 - TCGA-GC-A3RC-01 COSM3794726 c.216G>A p.K72K Substitution - coding silent 16:27235220-27235220 - 8066503 COSM3772174 c.712G>A p.E238K Substitution - Missense 16:27225735-27225735 - ACINAR01 COSM1734093 c.499A>G p.T167A Substitution - Missense 16:27226821-27226821 - PTC-7C COSM4128848 c.531G>A p.E177E Substitution - coding silent 16:27226789-27226789 - CHOL12 COSM702837 c.154A>T p.K52* Substitution - Nonsense 16:27235282-27235282 - CHC2103T COSM4952601 c.431A>G p.K144R Substitution - Missense 16:27233053-27233053 - 0057_CRUK_PC_0057_T1_DNA COSM5422683 c.195G>C p.E65D Substitution - Missense 16:27235241-27235241 - T2932 COSM4708376 c.97G>A p.V33M Substitution - Missense 16:27257474-27257474 - BN02 COSM1609125 c.717C>T p.I239I Substitution - coding silent 16:27225730-27225730 - 587278 COSM1217954 c.580T>G p.C194G Substitution - Missense 16:27226740-27226740 - TCGA-EE-A20C-06 COSM3508170 c.411A>G p.K137K Substitution - coding silent 16:27233073-27233073 - TCGA-B5-A11N-01 COSM262477 c.730G>A p.D244N Substitution - Missense 16:27225228-27225228 - LOVO COSM3108696 c.106T>C p.L36L Substitution - coding silent 16:27257465-27257465 - DLD1 COSM3108686 c.633G>A p.M211I Substitution - Missense 16:27225814-27225814 - SNUH_G16_S1 COSM3999813 c.600+7G>A p.? Unknown 16:27226713-27226713 - TCGA-G3-A25T-01 COSM4941617 c.566A>G p.K189R Substitution - Missense 16:27226754-27226754 - HCT15 COSM3108686 c.633G>A p.M211I Substitution - Missense 16:27225814-27225814 - KPOPBR-20-T COSM5963410 c.232G>C p.D78H Substitution - Missense 16:27235204-27235204 - TCGA-CG-5721-01 COSM4059624 c.181A>G p.N61D Substitution - Missense 16:27235255-27235255 - TCGA-BR-6852-01 COSM4059622 c.645C>T p.C215C Substitution - coding silent 16:27225802-27225802 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.284295 16p12.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.G138V c.413G>T 16 27244392 BRCA C T Missense p.E30K c.88G>A 16 27268804 BLCA C T Missense p.G74E c.221G>A 16 27246536 BLCA C T Missense p.R171Q c.512G>A 16 27238129 UCEC G A IntronicSNV . c.136+14C>T 16 27268742 CM G A Missense p.R181W c.541C>T 16 27238100 CM G A Missense p.R35C c.103C>T 16 27268789 ESCA G A Synonymous p.C215C c.645C>T 16 27237123 STAD G A Synonymous p.G170G c.510C>T 16 27238131 CM G A Synonymous p.I193I c.579C>T 16 27238062 BRCA G A Synonymous p.L168L c.502C>T 16 27238139 BRCA G A Synonymous p.P185P c.555C>T 16 27238086 LUSC G A Synonymous p.Y219Y c.657C>T 16 27237111 HNSC G C Nonsense p.S119* c.356C>G 16 27244449 LUAD T A Nonsense p.K52* c.154A>T 16 27246603 LUSC T C Missense p.I193V c.577A>G 16 27238064 STAD T C Missense p.K42R c.125A>G 16 27268767 LUSC T C Synonymous p.K137K c.411A>G 16 27244394 CM