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 8 27145409 27145409 + Silent SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 g.chr8:27145409G>A c.1140C>T c.(1138-1140)ggC>ggT p.G380G BLCA 8 27151743 27151743 + Silent SNP G G A TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr8:27151743G>A c.616C>T c.(616-618)Ctg>Ttg p.L206L BLCA 8 27168491 27168491 + Missense_Mutation SNP C C G TCGA-BT-A42F-01A-11D-A23U-08 TCGA-BT-A42F-10A-01D-A23U-08 g.chr8:27168491C>G c.262G>C c.(262-264)Gag>Cag p.E88Q BLCA 8 27168708 27168708 + Missense_Mutation SNP G G C TCGA-GD-A2C5-01A-12D-A17V-08 TCGA-GD-A2C5-10A-01D-A17V-08 g.chr8:27168708G>C c.45C>G c.(43-45)ttC>ttG p.F15L BRCA 8 27151640 27151640 + Missense_Mutation SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 g.chr8:27151640C>T c.719G>A c.(718-720)cGg>cAg p.R240Q CESC 8 27145094 27145094 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 g.chr8:27145094G>A c.1455C>T c.(1453-1455)atC>atT p.I485I CESC 8 27145235 27145235 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr8:27145235C>T c.1314G>A c.(1312-1314)gaG>gaA p.E438E CESC 8 27151768 27151768 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr8:27151768G>A c.591C>T c.(589-591)ttC>ttT p.F197F CESC 8 27168491 27168491 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr8:27168491C>T c.262G>A c.(262-264)Gag>Aag p.E88K COAD 8 27145113 27145113 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr8:27145113C>T c.1436G>A c.(1435-1437)cGc>cAc p.R479H COAD 8 27145186 27145186 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr8:27145186C>T c.1363G>A c.(1363-1365)Gcc>Acc p.A455T COAD 8 27145213 27145213 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr8:27145213G>A c.1336C>T c.(1336-1338)Cgc>Tgc p.R446C COAD 8 27145248 27145248 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr8:27145248C>T c.1301G>A c.(1300-1302)tGt>tAt p.C434Y COAD 8 27145295 27145295 + Silent SNP C C T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr8:27145295C>T c.1254G>A c.(1252-1254)tcG>tcA p.S418S COAD 8 27145504 27145504 + Missense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr8:27145504G>A c.1045C>T c.(1045-1047)Cgt>Tgt p.R349C COAD 8 27151726 27151726 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr8:27151726C>A c.633G>T c.(631-633)gaG>gaT p.E211D COAD 8 27151803 27151803 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr8:27151803G>A c.556C>T c.(556-558)Cgg>Tgg p.R186W COAD 8 27168445 27168445 + Missense_Mutation SNP A A C TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr8:27168445A>C c.308T>G c.(307-309)cTg>cGg p.L103R COAD 8 27168646 27168646 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr8:27168646C>T c.107G>A c.(106-108)tGc>tAc p.C36Y COADREAD 8 27145113 27145113 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr8:27145113C>T c.1436G>A c.(1435-1437)cGc>cAc p.R479H COADREAD 8 27145186 27145186 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr8:27145186C>T c.1363G>A c.(1363-1365)Gcc>Acc p.A455T COADREAD 8 27145213 27145213 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr8:27145213G>A c.1336C>T c.(1336-1338)Cgc>Tgc p.R446C COADREAD 8 27145231 27145231 + Missense_Mutation SNP A A G TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chr8:27145231A>G c.1318T>C c.(1318-1320)Tct>Cct p.S440P COADREAD 8 27145248 27145248 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr8:27145248C>T c.1301G>A c.(1300-1302)tGt>tAt p.C434Y COADREAD 8 27145295 27145295 + Silent SNP C C T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr8:27145295C>T c.1254G>A c.(1252-1254)tcG>tcA p.S418S COADREAD 8 27145504 27145504 + Missense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr8:27145504G>A c.1045C>T c.(1045-1047)Cgt>Tgt p.R349C COADREAD 8 27151726 27151726 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr8:27151726C>A c.633G>T c.(631-633)gaG>gaT p.E211D COADREAD 8 27151776 27151776 + Missense_Mutation SNP G G A TCGA-AF-2691-01A-01W-0831-10 TCGA-AF-2691-10A-01W-0831-10 g.chr8:27151776G>A c.583C>T c.(583-585)Cgc>Tgc p.R195C COADREAD 8 27151803 27151803 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr8:27151803G>A c.556C>T c.(556-558)Cgg>Tgg p.R186W COADREAD 8 27168445 27168445 + Missense_Mutation SNP A A C TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr8:27168445A>C c.308T>G c.(307-309)cTg>cGg p.L103R COADREAD 8 27168646 27168646 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr8:27168646C>T c.107G>A c.(106-108)tGc>tAc p.C36Y ESCA 8 27145471 27145471 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 g.chr8:27145471C>T c.1078G>A c.(1078-1080)Gtg>Atg p.V360M ESCA 8 27145627 27145627 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 g.chr8:27145627G>T c.922C>A c.(922-924)Ccc>Acc p.P308T ESCA 8 27156030 27156030 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 g.chr8:27156030G>A c.482C>T c.(481-483)gCc>gTc p.A161V ESCA 8 27168552 27168552 + Silent SNP G G C TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 g.chr8:27168552G>C c.201C>G c.(199-201)gcC>gcG p.A67A GBMLGG 8 27145295 27145295 + Silent SNP C C T TCGA-HT-7478-01A-11D-2024-08 TCGA-HT-7478-10A-01D-2024-08 g.chr8:27145295C>T c.1254G>A c.(1252-1254)tcG>tcA p.S418S GBMLGG 8 27151645 27151645 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:27151645G>A c.714C>T c.(712-714)atC>atT p.I238I HNSC 8 27145246 27145246 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 g.chr8:27145246C>T c.1303G>A c.(1303-1305)Gag>Aag p.E435K HNSC 8 27145527 27145527 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 g.chr8:27145527G>A c.1022C>T c.(1021-1023)tCg>tTg p.S341L HNSC 8 27145584 27145584 + Missense_Mutation SNP G G C TCGA-CN-6988-01A-11D-1912-08 TCGA-CN-6988-10A-01D-1912-08 g.chr8:27145584G>C c.965C>G c.(964-966)aCc>aGc p.T322S HNSC 8 27146779 27146779 + Missense_Mutation SNP C C A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 g.chr8:27146779C>A c.804G>T c.(802-804)gaG>gaT p.E268D LGG 8 27145295 27145295 + Silent SNP C C T TCGA-HT-7478-01A-11D-2024-08 TCGA-HT-7478-10A-01D-2024-08 g.chr8:27145295C>T c.1254G>A c.(1252-1254)tcG>tcA p.S418S LGG 8 27151645 27151645 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:27151645G>A c.714C>T c.(712-714)atC>atT p.I238I LUAD 8 27145298 27145298 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr8:27145298C>A c.1251G>T c.(1249-1251)acG>acT p.T417T LUAD 8 27145561 27145561 + Missense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 g.chr8:27145561G>A c.988C>T c.(988-990)Cgc>Tgc p.R330C LUAD 8 27151801 27151801 + Silent SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 g.chr8:27151801C>A c.558G>T c.(556-558)cgG>cgT p.R186R LUAD 8 27168490 27168490 + Missense_Mutation SNP T T A TCGA-73-4668-01A-01D-1265-08 TCGA-73-4668-11A-01D-1265-08 g.chr8:27168490T>A c.263A>T c.(262-264)gAg>gTg p.E88V LUSC 8 27151768 27151768 + Silent SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr8:27151768G>A c.591C>T c.(589-591)ttC>ttT p.F197F PAAD 8 27145212 27145212 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:27145212C>T c.1337G>A c.(1336-1338)cGc>cAc p.R446H PRAD 8 27151801 27151801 + Silent SNP C C A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 g.chr8:27151801C>A c.558G>T c.(556-558)cgG>cgT p.R186R READ 8 27145231 27145231 + Missense_Mutation SNP A A G TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chr8:27145231A>G c.1318T>C c.(1318-1320)Tct>Cct p.S440P READ 8 27151776 27151776 + Missense_Mutation SNP G G A TCGA-AF-2691-01A-01W-0831-10 TCGA-AF-2691-10A-01W-0831-10 g.chr8:27151776G>A c.583C>T c.(583-585)Cgc>Tgc p.R195C SKCM 8 27145103 27145103 + Silent SNP G G A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr8:27145103G>A c.1446C>T c.(1444-1446)ccC>ccT p.P482P SKCM 8 27145286 27145286 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr8:27145286G>A c.1263C>T c.(1261-1263)gtC>gtT p.V421V SKCM 8 27145504 27145504 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr8:27145504G>A c.1045C>T c.(1045-1047)Cgt>Tgt p.R349C SKCM 8 27145561 27145561 + Missense_Mutation SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr8:27145561G>A c.988C>T c.(988-990)Cgc>Tgc p.R330C SKCM 8 27145562 27145562 + Silent SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr8:27145562G>A c.987C>T c.(985-987)taC>taT p.Y329Y SKCM 8 27145626 27145626 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr8:27145626G>A c.923C>T c.(922-924)cCc>cTc p.P308L SKCM 8 27146715 27146715 + Missense_Mutation SNP G G A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr8:27146715G>A c.868C>T c.(868-870)Cgc>Tgc p.R290C SKCM 8 27151620 27151620 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chr8:27151620C>T c.739G>A c.(739-741)Gag>Aag p.E247K SKCM 8 27151621 27151621 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chr8:27151621C>T c.738G>A c.(736-738)aaG>aaA p.K246K SKCM 8 27151776 27151776 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr8:27151776G>A c.583C>T c.(583-585)Cgc>Tgc p.R195C SKCM 8 27168487 27168487 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr8:27168487C>T c.266G>A c.(265-267)gGc>gAc p.G89D SKCM 8 27168522 27168522 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr8:27168522G>A c.231C>T c.(229-231)aaC>aaT p.N77N

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 8 27145409 27145409 single base substitution G A 3_prime_UTR_variant BLCA-US 8 27145409 27145409 single base substitution G A intron_variant BLCA-US 8 27145409 27145409 single base substitution G A synonymous_variant G380G 1140C>T BLCA-US 8 27168708 27168708 single base substitution G C missense_variant F15L 45C>G BLCA-US 8 27168708 27168708 single base substitution G C upstream_gene_variant BOCA-FR 8 27168528 27168528 single base substitution G A synonymous_variant L75L 225C>T BOCA-FR 8 27168528 27168528 single base substitution G A upstream_gene_variant BRCA-EU 8 27139335 27139335 single base substitution G A downstream_gene_variant BRCA-EU 8 27139712 27139712 single base substitution G A downstream_gene_variant BRCA-EU 8 27140188 27140188 single base substitution A T downstream_gene_variant BRCA-EU 8 27140391 27140391 single base substitution G A downstream_gene_variant BRCA-EU 8 27141730 27141730 single base substitution G T downstream_gene_variant BRCA-EU 8 27142508 27142508 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 27142508 27142508 single base substitution G A downstream_gene_variant BRCA-EU 8 27142649 27142649 single base substitution C T 3_prime_UTR_variant BRCA-EU 8 27142649 27142649 single base substitution C T downstream_gene_variant BRCA-EU 8 27143144 27143144 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 8 27143144 27143144 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 27143660 27143660 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 8 27143660 27143660 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 27143660 27143660 deletion of <=200bp A - intron_variant BRCA-EU 8 27143774 27143774 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 27143774 27143774 single base substitution G A downstream_gene_variant BRCA-EU 8 27143774 27143774 single base substitution G A intron_variant BRCA-EU 8 27143992 27143992 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 27143992 27143992 single base substitution G A downstream_gene_variant BRCA-EU 8 27143992 27143992 single base substitution G A intron_variant BRCA-EU 8 27148875 27148875 single base substitution A T downstream_gene_variant BRCA-EU 8 27148875 27148875 single base substitution A T intron_variant BRCA-EU 8 27149842 27149864 deletion of <=200bp ACACCATGTAGGCTTCTGTAAGC - downstream_gene_variant BRCA-EU 8 27149842 27149864 deletion of <=200bp ACACCATGTAGGCTTCTGTAAGC - intron_variant BRCA-EU 8 27152847 27152847 single base substitution T C intron_variant BRCA-EU 8 27152847 27152847 single base substitution T C upstream_gene_variant BRCA-EU 8 27152943 27152943 single base substitution G T intron_variant BRCA-EU 8 27152943 27152943 single base substitution G T upstream_gene_variant BRCA-EU 8 27153647 27153647 single base substitution G C intron_variant BRCA-EU 8 27153647 27153647 single base substitution G C upstream_gene_variant BRCA-EU 8 27154857 27154857 single base substitution A G intron_variant BRCA-EU 8 27154857 27154857 single base substitution A G upstream_gene_variant BRCA-EU 8 27154960 27154960 single base substitution G A intron_variant BRCA-EU 8 27154960 27154960 single base substitution G A upstream_gene_variant BRCA-EU 8 27156414 27156414 single base substitution A G intron_variant BRCA-EU 8 27156414 27156414 single base substitution A G upstream_gene_variant BRCA-EU 8 27156927 27156927 single base substitution G A intron_variant BRCA-EU 8 27159025 27159025 single base substitution T A intron_variant BRCA-EU 8 27160484 27160484 single base substitution G A intron_variant BRCA-EU 8 27160688 27160688 single base substitution G C intron_variant BRCA-EU 8 27161078 27161078 single base substitution G C intron_variant BRCA-EU 8 27162534 27162534 single base substitution G C intron_variant BRCA-EU 8 27165362 27165362 single base substitution G A intron_variant BRCA-EU 8 27169015 27169015 single base substitution C T upstream_gene_variant BRCA-EU 8 27169122 27169122 single base substitution G C upstream_gene_variant BRCA-EU 8 27171775 27171775 insertion of <=200bp - CT upstream_gene_variant BRCA-EU 8 27172153 27172153 single base substitution G T upstream_gene_variant BRCA-EU 8 27172998 27172998 single base substitution C A upstream_gene_variant BRCA-FR 8 27143992 27143992 single base substitution G A 3_prime_UTR_variant BRCA-FR 8 27143992 27143992 single base substitution G A downstream_gene_variant BRCA-FR 8 27143992 27143992 single base substitution G A intron_variant BRCA-FR 8 27160484 27160484 single base substitution G A intron_variant BRCA-FR 8 27160688 27160688 single base substitution G C intron_variant BRCA-FR 8 27161078 27161078 single base substitution G C intron_variant BRCA-FR 8 27167769 27167769 single base substitution G C intron_variant BRCA-FR 8 27167872 27167872 single base substitution G A intron_variant BRCA-FR 8 27169122 27169122 single base substitution G C upstream_gene_variant BRCA-US 8 27151640 27151640 single base substitution C T exon_variant BRCA-US 8 27151640 27151640 single base substitution C T missense_variant R208Q 623G>A BRCA-US 8 27151640 27151640 single base substitution C T missense_variant R240Q 719G>A BRCA-US 8 27151640 27151640 single base substitution C T missense_variant R4Q 11G>A BTCA-JP 8 27145687 27145687 single base substitution C T intron_variant BTCA-JP 8 27147758 27147758 single base substitution C T downstream_gene_variant BTCA-JP 8 27147758 27147758 single base substitution C T intron_variant BTCA-JP 8 27151645 27151645 single base substitution G A exon_variant BTCA-JP 8 27151645 27151645 single base substitution G A synonymous_variant I206I 618C>T BTCA-JP 8 27151645 27151645 single base substitution G A synonymous_variant I238I 714C>T BTCA-JP 8 27151645 27151645 single base substitution G A synonymous_variant I2I 6C>T BTCA-JP 8 27151749 27151749 single base substitution C T exon_variant BTCA-JP 8 27151749 27151749 single base substitution C T missense_variant A172T 514G>A BTCA-JP 8 27151749 27151749 single base substitution C T missense_variant A204T 610G>A BTCA-JP 8 27151749 27151749 single base substitution C T upstream_gene_variant BTCA-JP 8 27168784 27168784 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 8 27168784 27168784 single base substitution T A upstream_gene_variant BTCA-JP 8 27168796 27168796 single base substitution C T 5_prime_UTR_variant BTCA-JP 8 27168796 27168796 single base substitution C T upstream_gene_variant CESC-US 8 27145094 27145094 single base substitution G A downstream_gene_variant CESC-US 8 27145094 27145094 single base substitution G A intron_variant CESC-US 8 27145094 27145094 single base substitution G A synonymous_variant I485I 1455C>T CESC-US 8 27145235 27145235 single base substitution C T 3_prime_UTR_variant CESC-US 8 27145235 27145235 single base substitution C T intron_variant CESC-US 8 27145235 27145235 single base substitution C T synonymous_variant E438E 1314G>A CESC-US 8 27151768 27151768 single base substitution G A exon_variant CESC-US 8 27151768 27151768 single base substitution G A synonymous_variant F165F 495C>T CESC-US 8 27151768 27151768 single base substitution G A synonymous_variant F197F 591C>T CESC-US 8 27151768 27151768 single base substitution G A upstream_gene_variant CESC-US 8 27168491 27168491 single base substitution C T missense_variant E88K 262G>A CESC-US 8 27168491 27168491 single base substitution C T upstream_gene_variant CLLE-ES 8 27141785 27141785 single base substitution G C downstream_gene_variant CLLE-ES 8 27148650 27148652 deletion of <=200bp CAT - downstream_gene_variant CLLE-ES 8 27148650 27148652 deletion of <=200bp CAT - intron_variant COAD-US 8 27145113 27145113 single base substitution C T downstream_gene_variant COAD-US 8 27145113 27145113 single base substitution C T intron_variant COAD-US 8 27145113 27145113 single base substitution C T missense_variant R479H 1436G>A COAD-US 8 27145186 27145186 single base substitution C T downstream_gene_variant COAD-US 8 27145186 27145186 single base substitution C T intron_variant COAD-US 8 27145186 27145186 single base substitution C T missense_variant A455T 1363G>A COAD-US 8 27145213 27145213 single base substitution G A downstream_gene_variant COAD-US 8 27145213 27145213 single base substitution G A intron_variant COAD-US 8 27145213 27145213 single base substitution G A missense_variant R446C 1336C>T COAD-US 8 27145248 27145248 single base substitution C T 3_prime_UTR_variant COAD-US 8 27145248 27145248 single base substitution C T intron_variant COAD-US 8 27145248 27145248 single base substitution C T missense_variant C434Y 1301G>A COAD-US 8 27145295 27145295 single base substitution C T 3_prime_UTR_variant COAD-US 8 27145295 27145295 single base substitution C T intron_variant COAD-US 8 27145295 27145295 single base substitution C T synonymous_variant S418S 1254G>A COAD-US 8 27145504 27145504 single base substitution G A 3_prime_UTR_variant COAD-US 8 27145504 27145504 single base substitution G A intron_variant COAD-US 8 27145504 27145504 single base substitution G A missense_variant R349C 1045C>T COAD-US 8 27151803 27151803 single base substitution G A exon_variant COAD-US 8 27151803 27151803 single base substitution G A missense_variant R154W 460C>T COAD-US 8 27151803 27151803 single base substitution G A missense_variant R186W 556C>T COAD-US 8 27151803 27151803 single base substitution G A upstream_gene_variant COAD-US 8 27168646 27168646 single base substitution C T missense_variant C36Y 107G>A COAD-US 8 27168646 27168646 single base substitution C T upstream_gene_variant COCA-CN 8 27141086 27141086 single base substitution G A downstream_gene_variant COCA-CN 8 27145336 27145336 single base substitution C T 3_prime_UTR_variant COCA-CN 8 27145336 27145336 single base substitution C T intron_variant COCA-CN 8 27145336 27145336 single base substitution C T missense_variant V405M 1213G>A COCA-CN 8 27145422 27145422 single base substitution C T 3_prime_UTR_variant COCA-CN 8 27145422 27145422 single base substitution C T intron_variant COCA-CN 8 27145422 27145422 single base substitution C T missense_variant R376H 1127G>A COCA-CN 8 27146857 27146857 single base substitution G A downstream_gene_variant COCA-CN 8 27146857 27146857 single base substitution G A intron_variant COCA-CN 8 27150072 27150072 single base substitution G A downstream_gene_variant COCA-CN 8 27150072 27150072 single base substitution G A intron_variant COCA-CN 8 27157845 27157845 single base substitution C A intron_variant COCA-CN 8 27157863 27157863 single base substitution A T intron_variant COCA-CN 8 27168334 27168334 single base substitution G A exon_variant COCA-CN 8 27168334 27168334 single base substitution G A missense_variant T140I 419C>T COCA-CN 8 27168344 27168344 single base substitution C T exon_variant COCA-CN 8 27168344 27168344 single base substitution C T missense_variant V137M 409G>A EOPC-DE 8 27147562 27147562 single base substitution T C downstream_gene_variant EOPC-DE 8 27147562 27147562 single base substitution T C intron_variant ESAD-UK 8 27140831 27140831 deletion of <=200bp T - downstream_gene_variant ESAD-UK 8 27146194 27146194 single base substitution C T intron_variant ESAD-UK 8 27150193 27150193 single base substitution G A downstream_gene_variant ESAD-UK 8 27150193 27150193 single base substitution G A intron_variant ESAD-UK 8 27150559 27150559 single base substitution C T downstream_gene_variant ESAD-UK 8 27150559 27150559 single base substitution C T intron_variant ESAD-UK 8 27151449 27151449 single base substitution A G downstream_gene_variant ESAD-UK 8 27151449 27151449 single base substitution A G intron_variant ESAD-UK 8 27151887 27151887 single base substitution C A intron_variant ESAD-UK 8 27151887 27151887 single base substitution C A upstream_gene_variant ESAD-UK 8 27151904 27151904 single base substitution G T intron_variant ESAD-UK 8 27151904 27151904 single base substitution G T upstream_gene_variant ESAD-UK 8 27153373 27153373 single base substitution A G intron_variant ESAD-UK 8 27153373 27153373 single base substitution A G upstream_gene_variant ESAD-UK 8 27154747 27154747 single base substitution C T intron_variant ESAD-UK 8 27154747 27154747 single base substitution C T upstream_gene_variant ESAD-UK 8 27163946 27163946 single base substitution G A intron_variant ESAD-UK 8 27170309 27170309 single base substitution C G upstream_gene_variant ESAD-UK 8 27170968 27170968 single base substitution A C upstream_gene_variant ESAD-UK 8 27171670 27171670 single base substitution T A upstream_gene_variant ESCA-CN 8 27145485 27145485 single base substitution G A 3_prime_UTR_variant ESCA-CN 8 27145485 27145485 single base substitution G A intron_variant ESCA-CN 8 27145485 27145485 single base substitution G A missense_variant S355L 1064C>T ESCA-CN 8 27145543 27145543 single base substitution G T 3_prime_UTR_variant ESCA-CN 8 27145543 27145543 single base substitution G T intron_variant ESCA-CN 8 27145543 27145543 single base substitution G T missense_variant P336T 1006C>A ESCA-CN 8 27147716 27147716 single base substitution A C downstream_gene_variant ESCA-CN 8 27147716 27147716 single base substitution A C intron_variant KIRP-US 8 27168425 27168425 single base substitution G T missense_variant L110I 328C>A KIRP-US 8 27168425 27168425 single base substitution G T upstream_gene_variant LAML-KR 8 27145133 27145133 single base substitution G A downstream_gene_variant LAML-KR 8 27145133 27145133 single base substitution G A intron_variant LAML-KR 8 27145133 27145133 single base substitution G A synonymous_variant A472A 1416C>T LAML-KR 8 27145608 27145608 single base substitution C A 3_prime_UTR_variant LAML-KR 8 27145608 27145608 single base substitution C A missense_variant W314L 941G>T LAML-KR 8 27145608 27145608 single base substitution C A missense_variant W78L 233G>T LGG-US 8 27145295 27145295 single base substitution C T 3_prime_UTR_variant LGG-US 8 27145295 27145295 single base substitution C T intron_variant LGG-US 8 27145295 27145295 single base substitution C T synonymous_variant S418S 1254G>A LICA-CN 8 27146747 27146747 single base substitution T C downstream_gene_variant LICA-CN 8 27146747 27146747 single base substitution T C missense_variant D279G 836A>G LICA-CN 8 27146747 27146747 single base substitution T C missense_variant D43G 128A>G LICA-CN 8 27146747 27146747 single base substitution T C synonymous_variant R239R 717A>G LICA-FR 8 27145261 27145261 single base substitution C A 3_prime_UTR_variant LICA-FR 8 27145261 27145261 single base substitution C A intron_variant LICA-FR 8 27145261 27145261 single base substitution C A missense_variant V430L 1288G>T LICA-FR 8 27168480 27168480 single base substitution G A synonymous_variant R91R 273C>T LICA-FR 8 27168480 27168480 single base substitution G A upstream_gene_variant LINC-JP 8 27147650 27147650 single base substitution C G downstream_gene_variant LINC-JP 8 27147650 27147650 single base substitution C G intron_variant LINC-JP 8 27152028 27152028 single base substitution A T intron_variant LINC-JP 8 27152028 27152028 single base substitution A T upstream_gene_variant LINC-JP 8 27152351 27152351 single base substitution C T intron_variant LINC-JP 8 27152351 27152351 single base substitution C T upstream_gene_variant LINC-JP 8 27167560 27167560 single base substitution G T intron_variant LIRI-JP 8 27140768 27140768 single base substitution G T downstream_gene_variant LIRI-JP 8 27146280 27146280 single base substitution C T intron_variant LIRI-JP 8 27150024 27150024 single base substitution T C downstream_gene_variant LIRI-JP 8 27150024 27150024 single base substitution T C intron_variant LIRI-JP 8 27150162 27150162 single base substitution T G downstream_gene_variant LIRI-JP 8 27150162 27150162 single base substitution T G intron_variant LIRI-JP 8 27150372 27150372 single base substitution A G downstream_gene_variant LIRI-JP 8 27150372 27150372 single base substitution A G intron_variant LIRI-JP 8 27150591 27150591 single base substitution T C downstream_gene_variant LIRI-JP 8 27150591 27150591 single base substitution T C intron_variant LIRI-JP 8 27157773 27157773 single base substitution T C intron_variant LIRI-JP 8 27160754 27160754 single base substitution A C intron_variant LIRI-JP 8 27161363 27161363 single base substitution G A intron_variant LIRI-JP 8 27162702 27162712 deletion of <=200bp TGCCACCTACA - intron_variant LIRI-JP 8 27164480 27164480 single base substitution T C intron_variant LIRI-JP 8 27166066 27166076 deletion of <=200bp CTCCCCCACAA - intron_variant LIRI-JP 8 27167984 27167984 single base substitution C T intron_variant LIRI-JP 8 27173067 27173067 single base substitution C G upstream_gene_variant LIRI-JP 8 27173282 27173282 single base substitution A G upstream_gene_variant LUSC-KR 8 27146898 27146898 single base substitution C T downstream_gene_variant LUSC-KR 8 27146898 27146898 single base substitution C T intron_variant LUSC-KR 8 27153800 27153800 single base substitution C A intron_variant LUSC-KR 8 27153800 27153800 single base substitution C A upstream_gene_variant LUSC-KR 8 27159923 27159923 single base substitution T G intron_variant LUSC-US 8 27151768 27151768 single base substitution G A exon_variant LUSC-US 8 27151768 27151768 single base substitution G A synonymous_variant F165F 495C>T LUSC-US 8 27151768 27151768 single base substitution G A synonymous_variant F197F 591C>T LUSC-US 8 27151768 27151768 single base substitution G A upstream_gene_variant MALY-DE 8 27146943 27146943 single base substitution G A downstream_gene_variant MALY-DE 8 27146943 27146943 single base substitution G A intron_variant MALY-DE 8 27147902 27147902 single base substitution G A downstream_gene_variant MALY-DE 8 27147902 27147902 single base substitution G A intron_variant MALY-DE 8 27160566 27160566 single base substitution A T intron_variant MALY-DE 8 27161142 27161142 single base substitution T G intron_variant MALY-DE 8 27164212 27164212 single base substitution A C intron_variant MALY-DE 8 27164300 27164300 single base substitution G T intron_variant MALY-DE 8 27166848 27166848 single base substitution G C intron_variant MELA-AU 8 27137807 27137807 single base substitution G A downstream_gene_variant MELA-AU 8 27138626 27138626 single base substitution G A downstream_gene_variant MELA-AU 8 27138968 27138969 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 8 27139432 27139432 single base substitution G A downstream_gene_variant MELA-AU 8 27140150 27140150 single base substitution G A downstream_gene_variant MELA-AU 8 27140401 27140401 single base substitution G A downstream_gene_variant MELA-AU 8 27142038 27142038 single base substitution G A downstream_gene_variant MELA-AU 8 27142202 27142202 single base substitution G A downstream_gene_variant MELA-AU 8 27142262 27142262 single base substitution C T downstream_gene_variant MELA-AU 8 27142471 27142471 single base substitution T A 3_prime_UTR_variant MELA-AU 8 27142471 27142471 single base substitution T A downstream_gene_variant MELA-AU 8 27143079 27143079 single base substitution G A 3_prime_UTR_variant MELA-AU 8 27143079 27143079 single base substitution G A downstream_gene_variant MELA-AU 8 27143462 27143463 deletion of <=200bp CT - 3_prime_UTR_variant MELA-AU 8 27143462 27143463 deletion of <=200bp CT - downstream_gene_variant MELA-AU 8 27144142 27144142 single base substitution G A 3_prime_UTR_variant MELA-AU 8 27144142 27144142 single base substitution G A downstream_gene_variant MELA-AU 8 27144142 27144142 single base substitution G A intron_variant MELA-AU 8 27144410 27144410 single base substitution G A 3_prime_UTR_variant MELA-AU 8 27144410 27144410 single base substitution G A downstream_gene_variant MELA-AU 8 27144410 27144410 single base substitution G A intron_variant MELA-AU 8 27144802 27144802 single base substitution C T 3_prime_UTR_variant MELA-AU 8 27144802 27144802 single base substitution C T downstream_gene_variant MELA-AU 8 27144802 27144802 single base substitution C T intron_variant MELA-AU 8 27144864 27144864 single base substitution G A 3_prime_UTR_variant MELA-AU 8 27144864 27144864 single base substitution G A downstream_gene_variant MELA-AU 8 27144864 27144864 single base substitution G A intron_variant MELA-AU 8 27144892 27144892 single base substitution G A 3_prime_UTR_variant MELA-AU 8 27144892 27144892 single base substitution G A downstream_gene_variant MELA-AU 8 27144892 27144892 single base substitution G A intron_variant MELA-AU 8 27145230 27145230 single base substitution G A 3_prime_UTR_variant MELA-AU 8 27145230 27145230 single base substitution G A intron_variant MELA-AU 8 27145230 27145230 single base substitution G A missense_variant S440F 1319C>T MELA-AU 8 27145529 27145529 single base substitution G A 3_prime_UTR_variant MELA-AU 8 27145529 27145529 single base substitution G A intron_variant MELA-AU 8 27145529 27145529 single base substitution G A synonymous_variant S340S 1020C>T MELA-AU 8 27146131 27146131 single base substitution G A intron_variant MELA-AU 8 27146901 27146901 single base substitution G A downstream_gene_variant MELA-AU 8 27146901 27146901 single base substitution G A intron_variant MELA-AU 8 27147108 27147108 single base substitution G A downstream_gene_variant MELA-AU 8 27147108 27147108 single base substitution G A intron_variant MELA-AU 8 27148062 27148062 single base substitution G A downstream_gene_variant MELA-AU 8 27148062 27148062 single base substitution G A intron_variant MELA-AU 8 27148868 27148868 single base substitution C A downstream_gene_variant MELA-AU 8 27148868 27148868 single base substitution C A intron_variant MELA-AU 8 27148886 27148886 single base substitution C A downstream_gene_variant MELA-AU 8 27148886 27148886 single base substitution C A intron_variant MELA-AU 8 27148947 27148947 single base substitution G A downstream_gene_variant MELA-AU 8 27148947 27148947 single base substitution G A intron_variant MELA-AU 8 27149747 27149747 single base substitution C T downstream_gene_variant MELA-AU 8 27149747 27149747 single base substitution C T intron_variant MELA-AU 8 27150507 27150507 single base substitution G A downstream_gene_variant MELA-AU 8 27150507 27150507 single base substitution G A intron_variant MELA-AU 8 27151093 27151093 single base substitution T C downstream_gene_variant MELA-AU 8 27151093 27151093 single base substitution T C intron_variant MELA-AU 8 27151768 27151768 single base substitution G A exon_variant MELA-AU 8 27151768 27151768 single base substitution G A synonymous_variant F165F 495C>T MELA-AU 8 27151768 27151768 single base substitution G A synonymous_variant F197F 591C>T MELA-AU 8 27151768 27151768 single base substitution G A upstream_gene_variant MELA-AU 8 27151910 27151910 single base substitution G A intron_variant MELA-AU 8 27151910 27151910 single base substitution G A upstream_gene_variant MELA-AU 8 27153281 27153281 single base substitution G A intron_variant MELA-AU 8 27153281 27153281 single base substitution G A upstream_gene_variant MELA-AU 8 27153377 27153377 single base substitution G A intron_variant MELA-AU 8 27153377 27153377 single base substitution G A upstream_gene_variant MELA-AU 8 27153886 27153886 single base substitution G A intron_variant MELA-AU 8 27153886 27153886 single base substitution G A upstream_gene_variant MELA-AU 8 27154345 27154345 single base substitution C A intron_variant MELA-AU 8 27154345 27154345 single base substitution C A upstream_gene_variant MELA-AU 8 27154561 27154561 single base substitution G T intron_variant MELA-AU 8 27154561 27154561 single base substitution G T upstream_gene_variant MELA-AU 8 27154755 27154755 single base substitution C T intron_variant MELA-AU 8 27154755 27154755 single base substitution C T upstream_gene_variant MELA-AU 8 27155114 27155114 single base substitution G A intron_variant MELA-AU 8 27155114 27155114 single base substitution G A upstream_gene_variant MELA-AU 8 27155182 27155182 single base substitution G A intron_variant MELA-AU 8 27155182 27155182 single base substitution G A upstream_gene_variant MELA-AU 8 27155523 27155523 single base substitution G A intron_variant MELA-AU 8 27155523 27155523 single base substitution G A upstream_gene_variant MELA-AU 8 27156832 27156832 single base substitution C T intron_variant MELA-AU 8 27157731 27157731 single base substitution G A intron_variant MELA-AU 8 27158313 27158313 single base substitution C A intron_variant MELA-AU 8 27158531 27158531 single base substitution G A intron_variant MELA-AU 8 27159163 27159163 single base substitution A G intron_variant MELA-AU 8 27160466 27160466 single base substitution G A intron_variant MELA-AU 8 27160530 27160530 single base substitution A G intron_variant MELA-AU 8 27161950 27161950 single base substitution G A intron_variant MELA-AU 8 27161976 27161976 single base substitution C A intron_variant MELA-AU 8 27162124 27162124 single base substitution C T intron_variant MELA-AU 8 27162733 27162733 single base substitution C A intron_variant MELA-AU 8 27163934 27163935 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 27165383 27165383 single base substitution G A intron_variant MELA-AU 8 27165487 27165487 single base substitution G A intron_variant MELA-AU 8 27165642 27165642 single base substitution G A intron_variant MELA-AU 8 27165656 27165656 single base substitution G A intron_variant MELA-AU 8 27167688 27167688 single base substitution C A intron_variant MELA-AU 8 27168916 27168916 single base substitution G A upstream_gene_variant MELA-AU 8 27168924 27168924 single base substitution G A upstream_gene_variant MELA-AU 8 27168934 27168934 single base substitution G A upstream_gene_variant MELA-AU 8 27168937 27168937 single base substitution G A upstream_gene_variant MELA-AU 8 27168952 27168952 single base substitution C T upstream_gene_variant MELA-AU 8 27169053 27169053 single base substitution G A upstream_gene_variant MELA-AU 8 27169977 27169977 single base substitution G A upstream_gene_variant MELA-AU 8 27170711 27170711 single base substitution C T upstream_gene_variant MELA-AU 8 27171081 27171081 single base substitution C T upstream_gene_variant MELA-AU 8 27171642 27171642 single base substitution C T upstream_gene_variant MELA-AU 8 27171668 27171668 single base substitution C T upstream_gene_variant MELA-AU 8 27172033 27172033 single base substitution C T upstream_gene_variant MELA-AU 8 27172544 27172545 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 27172581 27172581 single base substitution C T upstream_gene_variant MELA-AU 8 27173782 27173782 single base substitution T A upstream_gene_variant ORCA-IN 8 27141744 27141744 single base substitution C G downstream_gene_variant ORCA-IN 8 27145270 27145270 single base substitution G A 3_prime_UTR_variant ORCA-IN 8 27145270 27145270 single base substitution G A intron_variant ORCA-IN 8 27145270 27145270 single base substitution G A missense_variant R427C 1279C>T ORCA-IN 8 27159005 27159005 single base substitution T C intron_variant ORCA-IN 8 27168728 27168728 single base substitution G T missense_variant P9T 25C>A ORCA-IN 8 27168728 27168728 single base substitution G T upstream_gene_variant OV-AU 8 27145580 27145580 single base substitution G A 3_prime_UTR_variant OV-AU 8 27145580 27145580 single base substitution G A synonymous_variant S323S 969C>T OV-AU 8 27145580 27145580 single base substitution G A synonymous_variant S87S 261C>T OV-AU 8 27147518 27147518 single base substitution A G downstream_gene_variant OV-AU 8 27147518 27147518 single base substitution A G intron_variant OV-AU 8 27158311 27158311 single base substitution T C intron_variant OV-AU 8 27160259 27160259 single base substitution C T intron_variant PACA-AU 8 27148149 27148149 single base substitution T G downstream_gene_variant PACA-AU 8 27148149 27148149 single base substitution T G intron_variant PACA-AU 8 27149693 27149693 deletion of <=200bp T - downstream_gene_variant PACA-AU 8 27149693 27149693 deletion of <=200bp T - intron_variant PACA-AU 8 27157855 27157855 single base substitution A G intron_variant PACA-AU 8 27164379 27164379 single base substitution T A intron_variant PACA-AU 8 27167047 27167047 single base substitution G C intron_variant PACA-CA 8 27141161 27141161 single base substitution A T downstream_gene_variant PACA-CA 8 27147259 27147259 single base substitution T A downstream_gene_variant PACA-CA 8 27147259 27147259 single base substitution T A intron_variant PACA-CA 8 27150000 27150000 single base substitution T C downstream_gene_variant PACA-CA 8 27150000 27150000 single base substitution T C intron_variant PACA-CA 8 27153939 27153939 single base substitution G A intron_variant PACA-CA 8 27153939 27153939 single base substitution G A upstream_gene_variant PACA-CA 8 27154268 27154268 single base substitution A G intron_variant PACA-CA 8 27154268 27154268 single base substitution A G upstream_gene_variant PACA-CA 8 27154481 27154481 single base substitution T A intron_variant PACA-CA 8 27154481 27154481 single base substitution T A upstream_gene_variant PACA-CA 8 27162507 27162507 single base substitution C T intron_variant PAEN-IT 8 27173039 27173039 single base substitution C A upstream_gene_variant PBCA-DE 8 27146531 27146531 single base substitution C T intron_variant PRAD-CA 8 27162499 27162499 single base substitution A C intron_variant PRAD-CA 8 27165465 27165465 single base substitution G C intron_variant PRAD-UK 8 27140536 27140548 deletion of <=200bp AGGTTTAGAACAC - downstream_gene_variant PRAD-UK 8 27148146 27148146 single base substitution G T downstream_gene_variant PRAD-UK 8 27148146 27148146 single base substitution G T intron_variant PRAD-UK 8 27162750 27162750 single base substitution G C intron_variant PRAD-UK 8 27166820 27166820 single base substitution C G intron_variant READ-US 8 27145231 27145231 single base substitution A G 3_prime_UTR_variant READ-US 8 27145231 27145231 single base substitution A G intron_variant READ-US 8 27145231 27145231 single base substitution A G missense_variant S440P 1318T>C READ-US 8 27155990 27155990 single base substitution C T exon_variant READ-US 8 27155990 27155990 single base substitution C T intron_variant READ-US 8 27155990 27155990 single base substitution C T synonymous_variant K174K 522G>A READ-US 8 27155990 27155990 single base substitution C T upstream_gene_variant RECA-EU 8 27139995 27139995 single base substitution G T downstream_gene_variant RECA-EU 8 27142743 27142743 single base substitution G C 3_prime_UTR_variant RECA-EU 8 27142743 27142743 single base substitution G C downstream_gene_variant RECA-EU 8 27145231 27145231 single base substitution A T 3_prime_UTR_variant RECA-EU 8 27145231 27145231 single base substitution A T intron_variant RECA-EU 8 27145231 27145231 single base substitution A T missense_variant S440T 1318T>A RECA-EU 8 27160722 27160722 single base substitution T G intron_variant RECA-EU 8 27160904 27160904 single base substitution C T intron_variant RECA-EU 8 27168718 27168718 single base substitution G A missense_variant S12F 35C>T RECA-EU 8 27168718 27168718 single base substitution G A upstream_gene_variant SKCA-BR 8 27140083 27140083 single base substitution T A downstream_gene_variant SKCA-BR 8 27140315 27140315 single base substitution A C downstream_gene_variant SKCA-BR 8 27142693 27142693 single base substitution C T 3_prime_UTR_variant SKCA-BR 8 27142693 27142693 single base substitution C T downstream_gene_variant SKCA-BR 8 27144705 27144705 single base substitution T G 3_prime_UTR_variant SKCA-BR 8 27144705 27144705 single base substitution T G downstream_gene_variant SKCA-BR 8 27144705 27144705 single base substitution T G intron_variant SKCA-BR 8 27149003 27149003 single base substitution G A downstream_gene_variant SKCA-BR 8 27149003 27149003 single base substitution G A intron_variant SKCA-BR 8 27149656 27149656 single base substitution T C downstream_gene_variant SKCA-BR 8 27149656 27149656 single base substitution T C intron_variant SKCA-BR 8 27150507 27150507 single base substitution G A downstream_gene_variant SKCA-BR 8 27150507 27150507 single base substitution G A intron_variant SKCA-BR 8 27154006 27154006 single base substitution T A intron_variant SKCA-BR 8 27154006 27154006 single base substitution T A upstream_gene_variant SKCA-BR 8 27155204 27155204 single base substitution G A intron_variant SKCA-BR 8 27155204 27155204 single base substitution G A upstream_gene_variant SKCA-BR 8 27163542 27163542 single base substitution G A intron_variant SKCA-BR 8 27168909 27168909 single base substitution G A upstream_gene_variant SKCA-BR 8 27170299 27170299 single base substitution C T upstream_gene_variant SKCA-BR 8 27173456 27173456 insertion of <=200bp - TG upstream_gene_variant SKCA-BR 8 27173810 27173810 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 8 27173810 27173811 deletion of <=200bp GT - upstream_gene_variant SKCM-US 8 27145103 27145103 single base substitution G A downstream_gene_variant SKCM-US 8 27145103 27145103 single base substitution G A intron_variant SKCM-US 8 27145103 27145103 single base substitution G A synonymous_variant P482P 1446C>T SKCM-US 8 27145286 27145286 single base substitution G A 3_prime_UTR_variant SKCM-US 8 27145286 27145286 single base substitution G A intron_variant SKCM-US 8 27145286 27145286 single base substitution G A synonymous_variant V421V 1263C>T SKCM-US 8 27145504 27145504 single base substitution G A 3_prime_UTR_variant SKCM-US 8 27145504 27145504 single base substitution G A intron_variant SKCM-US 8 27145504 27145504 single base substitution G A missense_variant R349C 1045C>T SKCM-US 8 27145626 27145626 single base substitution G A 3_prime_UTR_variant SKCM-US 8 27145626 27145626 single base substitution G A missense_variant P308L 923C>T SKCM-US 8 27145626 27145626 single base substitution G A missense_variant P72L 215C>T SKCM-US 8 27146715 27146715 single base substitution G A downstream_gene_variant SKCM-US 8 27146715 27146715 single base substitution G A missense_variant P250L 749C>T SKCM-US 8 27146715 27146715 single base substitution G A missense_variant R290C 868C>T SKCM-US 8 27146715 27146715 single base substitution G A missense_variant R54C 160C>T SKCM-US 8 27151776 27151776 single base substitution G A exon_variant SKCM-US 8 27151776 27151776 single base substitution G A missense_variant R163C 487C>T SKCM-US 8 27151776 27151776 single base substitution G A missense_variant R195C 583C>T SKCM-US 8 27151776 27151776 single base substitution G A upstream_gene_variant SKCM-US 8 27168487 27168487 single base substitution C T missense_variant G89D 266G>A SKCM-US 8 27168487 27168487 single base substitution C T upstream_gene_variant SKCM-US 8 27168522 27168522 single base substitution G A synonymous_variant N77N 231C>T SKCM-US 8 27168522 27168522 single base substitution G A upstream_gene_variant STAD-US 8 27145238 27145238 single base substitution G A 3_prime_UTR_variant STAD-US 8 27145238 27145238 single base substitution G A intron_variant STAD-US 8 27145238 27145238 single base substitution G A synonymous_variant G437G 1311C>T STAD-US 8 27145310 27145310 single base substitution C T 3_prime_UTR_variant STAD-US 8 27145310 27145310 single base substitution C T intron_variant STAD-US 8 27145310 27145310 single base substitution C T synonymous_variant S413S 1239G>A STAD-US 8 27145436 27145436 single base substitution G A 3_prime_UTR_variant STAD-US 8 27145436 27145436 single base substitution G A intron_variant STAD-US 8 27145436 27145436 single base substitution G A synonymous_variant G371G 1113C>T STAD-US 8 27145457 27145457 deletion of <=200bp C - 3_prime_UTR_variant STAD-US 8 27145457 27145457 deletion of <=200bp C - frameshift_variant G364 STAD-US 8 27145457 27145457 deletion of <=200bp C - intron_variant STAD-US 8 27145561 27145561 single base substitution G A 3_prime_UTR_variant STAD-US 8 27145561 27145561 single base substitution G A missense_variant R330C 988C>T STAD-US 8 27145561 27145561 single base substitution G A missense_variant R94C 280C>T STAD-US 8 27145580 27145580 single base substitution G A 3_prime_UTR_variant STAD-US 8 27145580 27145580 single base substitution G A synonymous_variant S323S 969C>T STAD-US 8 27145580 27145580 single base substitution G A synonymous_variant S87S 261C>T STAD-US 8 27145611 27145611 single base substitution C T 3_prime_UTR_variant STAD-US 8 27145611 27145611 single base substitution C T missense_variant G313D 938G>A STAD-US 8 27145611 27145611 single base substitution C T missense_variant G77D 230G>A STAD-US 8 27146721 27146721 single base substitution G A downstream_gene_variant STAD-US 8 27146721 27146721 single base substitution G A missense_variant A248V 743C>T STAD-US 8 27146721 27146721 single base substitution G A stop_gained Q288* 862C>T STAD-US 8 27146721 27146721 single base substitution G A stop_gained Q52* 154C>T STAD-US 8 27151667 27151667 single base substitution G A exon_variant STAD-US 8 27151667 27151667 single base substitution G A missense_variant T199M 596C>T STAD-US 8 27151667 27151667 single base substitution G A missense_variant T231M 692C>T STAD-US 8 27151667 27151667 single base substitution G A upstream_gene_variant STAD-US 8 27156046 27156046 single base substitution G A exon_variant STAD-US 8 27156046 27156046 single base substitution G A intron_variant STAD-US 8 27156046 27156046 single base substitution G A missense_variant R156W 466C>T STAD-US 8 27156046 27156046 single base substitution G A upstream_gene_variant THCA-SA 8 27143513 27143513 single base substitution G A 3_prime_UTR_variant THCA-SA 8 27143513 27143513 single base substitution G A downstream_gene_variant THCA-SA 8 27144732 27144732 single base substitution C G 3_prime_UTR_variant THCA-SA 8 27144732 27144732 single base substitution C G downstream_gene_variant THCA-SA 8 27144732 27144732 single base substitution C G intron_variant THCA-SA 8 27151613 27151613 single base substitution T G exon_variant THCA-SA 8 27151613 27151613 single base substitution T G missense_variant D13A 38A>C THCA-SA 8 27151613 27151613 single base substitution T G missense_variant D217A 650A>C THCA-SA 8 27151613 27151613 single base substitution T G missense_variant D249A 746A>C THCA-SA 8 27168820 27168820 single base substitution C A 5_prime_UTR_variant THCA-SA 8 27168820 27168820 single base substitution C A upstream_gene_variant UCEC-US 8 27145187 27145187 single base substitution G A downstream_gene_variant UCEC-US 8 27145187 27145187 single base substitution G A intron_variant UCEC-US 8 27145187 27145187 single base substitution G A synonymous_variant H454H 1362C>T UCEC-US 8 27145295 27145295 single base substitution C T 3_prime_UTR_variant UCEC-US 8 27145295 27145295 single base substitution C T intron_variant UCEC-US 8 27145295 27145295 single base substitution C T synonymous_variant S418S 1254G>A UCEC-US 8 27146748 27146748 single base substitution C T downstream_gene_variant UCEC-US 8 27146748 27146748 single base substitution C T missense_variant D279N 835G>A UCEC-US 8 27146748 27146748 single base substitution C T missense_variant D43N 127G>A UCEC-US 8 27146748 27146748 single base substitution C T missense_variant R239Q 716G>A UCEC-US 8 27151614 27151614 single base substitution C T exon_variant UCEC-US 8 27151614 27151614 single base substitution C T missense_variant D13N 37G>A UCEC-US 8 27151614 27151614 single base substitution C T missense_variant D217N 649G>A UCEC-US 8 27151614 27151614 single base substitution C T missense_variant D249N 745G>A UCEC-US 8 27155995 27155995 single base substitution C T exon_variant UCEC-US 8 27155995 27155995 single base substitution C T intron_variant UCEC-US 8 27155995 27155995 single base substitution C T missense_variant A173T 517G>A UCEC-US 8 27155995 27155995 single base substitution C T upstream_gene_variant UCEC-US 8 27156001 27156001 single base substitution C T exon_variant UCEC-US 8 27156001 27156001 single base substitution C T intron_variant UCEC-US 8 27156001 27156001 single base substitution C T missense_variant A171T 511G>A UCEC-US 8 27156001 27156001 single base substitution C T upstream_gene_variant UCEC-US 8 27156017 27156017 single base substitution C T exon_variant UCEC-US 8 27156017 27156017 single base substitution C T intron_variant UCEC-US 8 27156017 27156017 single base substitution C T missense_variant M165I 495G>A UCEC-US 8 27156017 27156017 single base substitution C T upstream_gene_variant UCEC-US 8 27168355 27168355 single base substitution C T exon_variant UCEC-US 8 27168355 27168355 single base substitution C T missense_variant R133H 398G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 949_T COSM3951557 c.1368C>G p.R456R Substitution - coding silent 8:27287664-27287664 - OSCC-GB_00940111 COSM4891729 c.1279C>T p.R427C Substitution - Missense 8:27287753-27287753 - TCGA-GD-A2C5-01 COSM1313968 c.45C>G p.F15L Substitution - Missense 8:27311191-27311191 - LC_C20 COSM1187509 c.296G>T p.R99L Substitution - Missense 8:27310940-27310940 - TCGA-F4-6570-01 COSM1456343 c.1363G>A p.A455T Substitution - Missense 8:27287669-27287669 - CN-AML-CR-34-Dx COSM5425135 c.1416C>T p.A472A Substitution - coding silent 8:27287616-27287616 - C0025T COSM4138684 c.35C>T p.S12F Substitution - Missense 8:27311201-27311201 - TCGA-D3-A5GO-06 COSM3647756 c.1263C>T p.V421V Substitution - coding silent 8:27287769-27287769 - TCGA-AX-A0J1-01 COSM1098645 c.517G>A p.A173T Substitution - Missense 8:27298478-27298478 - LIM2551 COSM4644859 c.1023G>A p.S341S Substitution - coding silent 8:27288009-27288009 - CRC-19T COSM5482194 c.419C>T p.T140I Substitution - Missense 8:27310817-27310817 - CSCC-11-T COSM4520749 c.1073G>A p.W358* Substitution - Nonsense 8:27287959-27287959 - 587316 COSM1230320 c.1280G>A p.R427H Substitution - Missense 8:27287752-27287752 - PT21_2 COSM5901576 c.529C>T p.Q177* Substitution - Nonsense 8:27298466-27298466 - CHC433T COSM3669889 c.273C>T p.R91R Substitution - coding silent 8:27310963-27310963 - D-05 COSM4766474 c.199G>A p.A67T Substitution - Missense 8:27311037-27311037 - 587342 COSM1230321 c.1405G>A p.A469T Substitution - Missense 8:27287627-27287627 - TCGA-18-3409-01 COSM749945 c.591C>T p.F197F Substitution - coding silent 8:27294251-27294251 - TCGA-HT-7478-01 COSM1098639 c.1254G>A p.S418S Substitution - coding silent 8:27287778-27287778 - SW48 COSM2787729 c.871G>A p.V291I Substitution - Missense 8:27289195-27289195 - TCGA-BS-A0TA-01 COSM1098640 c.1113C>T p.G371G Substitution - coding silent 8:27287919-27287919 - HCT15 COSM4626211 c.822C>T p.P274P Substitution - coding silent 8:27289244-27289244 - 5_FL COSM4171813 c.8G>A p.R3Q Substitution - Missense 8:27311228-27311228 - TCGA-ER-A19G-06 COSM3647758 c.868C>T p.R290C Substitution - Missense 8:27289198-27289198 - 1428_T COSM1552522 c.558G>T p.R186R Substitution - coding silent 8:27294284-27294284 - YUSMI COSM5409312 c.1282C>T p.L428L Substitution - coding silent 8:27287750-27287750 - TCGA-A6-A565-01 COSM5095993 c.1330G>A p.A444T Substitution - Missense 8:27287702-27287702 - TCGA-CD-A4MI-01 COSM3899250 c.862C>T p.Q288* Substitution - Nonsense 8:27289204-27289204 - TCGA-JW-A5VJ-01 COSM4818635 c.1455C>T p.I485I Substitution - coding silent 8:27287577-27287577 - D01 COSM5544320 c.309G>T p.L103L Substitution - coding silent 8:27310927-27310927 - S00938 COSM5663528 c.1388A>T p.Y463F Substitution - Missense 8:27287644-27287644 - OSCC-GB_00620111 COSM4881225 c.25C>A p.P9T Substitution - Missense 8:27311211-27311211 - ESO-718 COSM1268531 c.1312G>A p.E438K Substitution - Missense 8:27287720-27287720 - 587234 COSM1230323 c.598G>C p.V200L Substitution - Missense 8:27294244-27294244 - TCGA-AZ-6598-01 COSM1456344 c.1336C>T p.R446C Substitution - Missense 8:27287696-27287696 - LS411 COSM4646825 c.1206G>A p.T402T Substitution - coding silent 8:27287826-27287826 - sysucc-783T COSM5485007 c.1127G>A p.R376H Substitution - Missense 8:27287905-27287905 - TCGA-GD-A3OQ-01 COSM1313967 c.1140C>T p.G380G Substitution - coding silent 8:27287892-27287892 - I2L-P19Tb-Tumor-Biopsy COSM4646825 c.1206G>A p.T402T Substitution - coding silent 8:27287826-27287826 - T3064 COSM1098645 c.517G>A p.A173T Substitution - Missense 8:27298478-27298478 - 01-P1216 COSM4588020 c.1212C>T p.G404G Substitution - coding silent 8:27287820-27287820 - TCGA-HU-8602-01 COSM1552523 c.988C>T p.R330C Substitution - Missense 8:27288044-27288044 - ZZUFHECRKL-G045T COSM5438030 c.1064C>T p.S355L Substitution - Missense 8:27287968-27287968 - TCGA-AF-5654-01 COSM1569099 c.1318T>C p.S440P Substitution - Missense 8:27287714-27287714 - TCGA-BR-6452-01 COSM3899249 c.969C>T p.S323S Substitution - coding silent 8:27288063-27288063 - AOCS-147-1-1 COSM3899249 c.969C>T p.S323S Substitution - coding silent 8:27288063-27288063 - TCGA-FW-A3R5-06 COSM3925086 c.231C>T p.N77N Substitution - coding silent 8:27311005-27311005 - TCGA-AZ-4313-01 COSM5139063 c.1065G>A p.S355S Substitution - coding silent 8:27287967-27287967 - CSCC-32-T COSM4504072 c.655C>T p.L219L Substitution - coding silent 8:27294187-27294187 - TCGA-BR-6852-01 COSM3899248 c.1239G>A p.S413S Substitution - coding silent 8:27287793-27287793 - TCGA-G4-6304-01 COSM1456348 c.308T>G p.L103R Substitution - Missense 8:27310928-27310928 - TCGA-D9-A6EA-06 COSM4398019 c.1446C>T p.P482P Substitution - coding silent 8:27287586-27287586 - T1154 COSM4736065 c.780delA p.K260fs*152 Deletion - Frameshift 8:27290161-27290161 - 587342 COSM1230322 c.850C>A p.L284M Substitution - Missense 8:27289216-27289216 - CN-AML-CR-11-Dx COSM5424383 c.941G>T p.W314L Substitution - Missense 8:27288091-27288091 - TCGA-AA-A010-01 COSM285941 c.633G>T p.E211D Substitution - Missense 8:27294209-27294209 - CHEWS014 COSM4588019 c.1435C>T p.R479C Substitution - Missense 8:27287597-27287597 - sysucc-1370T COSM2787719 c.1213G>A p.V405M Substitution - Missense 8:27287819-27287819 - TCGA-D5-6540-01 COSM1456349 c.107G>A p.C36Y Substitution - Missense 8:27311129-27311129 - TCGA-CM-6171-01 COSM1456342 c.1436G>A p.R479H Substitution - Missense 8:27287596-27287596 - PA285 COSM1163507 c.947C>A p.S316Y Substitution - Missense 8:27288085-27288085 - TCGA-GF-A6C9-06 COSM1456346 c.1045C>T p.R349C Substitution - Missense 8:27287987-27287987 - BD72T COSM5512475 c.610G>A p.A204T Substitution - Missense 8:27294232-27294232 - DLD1 COSM4626211 c.822C>T p.P274P Substitution - coding silent 8:27289244-27289244 - TCGA-BS-A0U8-01 COSM1098641 c.958G>A p.D320N Substitution - Missense 8:27288074-27288074 - HCT15 COSM2787728 c.938G>A p.G313D Substitution - Missense 8:27288094-27288094 - HCC2998 COSM170322 c.583C>T p.R195C Substitution - Missense 8:27294259-27294259 - S02277 COSM5683328 c.1077G>A p.E359E Substitution - coding silent 8:27287955-27287955 - TCGA-AA-3864-01 COSM5115487 c.1337G>A p.R446H Substitution - Missense 8:27287695-27287695 - TCGA-BR-6566-01 COSM3899251 c.692C>T p.T231M Substitution - Missense 8:27294150-27294150 - TCGA-HU-8602-01 COSM1098640 c.1113C>T p.G371G Substitution - coding silent 8:27287919-27287919 - TCGA-EK-A3GK-01 COSM4853575 c.262G>A p.E88K Substitution - Missense 8:27310974-27310974 - HCT8 COSM4626211 c.822C>T p.P274P Substitution - coding silent 8:27289244-27289244 - CHC313T COSM4949906 c.1288G>T p.V430L Substitution - Missense 8:27287744-27287744 - C99 COSM2787731 c.569A>G p.E190G Substitution - Missense 8:27294273-27294273 - CHC433T COSM3669889 c.273C>T p.R91R Substitution - coding silent 8:27310963-27310963 - TCGA-D1-A17D-01 COSM1098648 c.398G>A p.R133H Substitution - Missense 8:27310838-27310838 - TCGA-F1-6177-01 COSM3899247 c.1311C>T p.G437G Substitution - coding silent 8:27287721-27287721 - CSCC-27-T COSM4464696 c.1348C>T p.L450L Substitution - coding silent 8:27287684-27287684 - TCGA-G4-6309-01 COSM1456346 c.1045C>T p.R349C Substitution - Missense 8:27287987-27287987 - CRC-02T COSM5455660 c.409G>A p.V137M Substitution - Missense 8:27310827-27310827 - TCGA-A4-7583-01 COSM3996000 c.328C>A p.L110I Substitution - Missense 8:27310908-27310908 - ESCC_71 COSM5634214 c.1201C>T p.R401C Substitution - Missense 8:27287831-27287831 - HCT116 COSM2787722 c.1092_1093insG p.L365fs*18 Insertion - Frameshift 8:27287939-27287940 - TCGA-BR-6707-01 COSM3899252 c.466C>T p.R156W Substitution - Missense 8:27298529-27298529 - LUAD-RT-S01777 COSM382537 c.748G>A p.V250I Substitution - Missense 8:27294094-27294094 - TCGA-EI-6882-01 COSM3432311 c.522G>A p.K174K Substitution - coding silent 8:27298473-27298473 - TCGA-D5-6927-01 COSM1098639 c.1254G>A p.S418S Substitution - coding silent 8:27287778-27287778 - 631076 COSM326756 c.964A>T p.T322S Substitution - Missense 8:27288068-27288068 - TCGA-BR-6566-01 COSM2787728 c.938G>A p.G313D Substitution - Missense 8:27288094-27288094 - 2250172 COSM5030162 c.225C>T p.L75L Substitution - coding silent 8:27311011-27311011 - C0097T COSM4138683 c.1318T>A p.S440T Substitution - Missense 8:27287714-27287714 - SNU-C2B COSM4651631 c.500G>A p.R167H Substitution - Missense 8:27298495-27298495 - TCGA-FW-A3R5-06 COSM170322 c.583C>T p.R195C Substitution - Missense 8:27294259-27294259 - TCGA-EK-A3GK-01 COSM749945 c.591C>T p.F197F Substitution - coding silent 8:27294251-27294251 - 14_T COSM3951558 c.1224C>G p.D408E Substitution - Missense 8:27287808-27287808 - TCGA-BS-A0U8-01 COSM1098643 c.784C>T p.R262* Substitution - Nonsense 8:27290157-27290157 - pfg143T COSM382537 c.748G>A p.V250I Substitution - Missense 8:27294094-27294094 - T3174 COSM4736064 c.1092delG p.L365fs*47 Deletion - Frameshift 8:27287940-27287940 - COLO678 COSM4621542 c.86G>A p.R29H Substitution - Missense 8:27311150-27311150 - BD121T COSM5515242 c.714C>T p.I238I Substitution - coding silent 8:27294128-27294128 - TCGA-D1-A103-01 COSM1098644 c.745G>A p.D249N Substitution - Missense 8:27294097-27294097 - CSCC-15-T COSM4552391 c.557G>A p.R186Q Substitution - Missense 8:27294285-27294285 - TCGA-D1-A165-01 COSM1098638 c.1362C>T p.H454H Substitution - coding silent 8:27287670-27287670 - SA077 COSM214214 c.634G>C p.E212Q Substitution - Missense 8:27294208-27294208 - TCGA-D3-A3MR-06 COSM3647759 c.266G>A p.G89D Substitution - Missense 8:27310970-27310970 - CHC313T COSM4949906 c.1288G>T p.V430L Substitution - Missense 8:27287744-27287744 - TCGA-D1-A17F-01 COSM1098647 c.495G>A p.M165I Substitution - Missense 8:27298500-27298500 - TCGA-D1-A160-01 COSM1098639 c.1254G>A p.S418S Substitution - coding silent 8:27287778-27287778 - ESCC_BICR_066T COSM5444718 c.1006C>A p.P336T Substitution - Missense 8:27288026-27288026 - TCGA-BS-A0UF-01 COSM1098642 c.835G>A p.D279N Substitution - Missense 8:27289231-27289231 - HN_62426 COSM129891 c.1027C>A p.P343T Substitution - Missense 8:27288005-27288005 - TCGA-AP-A051-01 COSM1098646 c.511G>A p.A171T Substitution - Missense 8:27298484-27298484 - HCC011T COSM5820030 c.836A>G p.D279G Substitution - Missense 8:27289230-27289230 - TCGA-CM-6162-01 COSM1456347 c.556C>T p.R186W Substitution - Missense 8:27294286-27294286 - TCGA-NH-A5IV-01 COSM4736064 c.1092delG p.L365fs*47 Deletion - Frameshift 8:27287940-27287940 - TCGA-G4-6588-01 COSM1456345 c.1301G>A p.C434Y Substitution - Missense 8:27287731-27287731 - I2L-P19Tb-Tumor-Organoid COSM4646825 c.1206G>A p.T402T Substitution - coding silent 8:27287826-27287826 - TCGA-D8-A1Y1-01 COSM1489207 c.719G>A p.R240Q Substitution - Missense 8:27294123-27294123 - ESCC_143 COSM4588020 c.1212C>T p.G404G Substitution - coding silent 8:27287820-27287820 - pfg008T COSM2787726 c.970G>A p.V324I Substitution - Missense 8:27288062-27288062 - Pat_02_B COSM5874463 c.1453A>C p.I485L Substitution - Missense 8:27287579-27287579 - TCGA-EE-A29M-06 COSM3647757 c.923C>T p.P308L Substitution - Missense 8:27288109-27288109 - T3202 COSM4736063 c.1478G>A p.G493D Substitution - Missense 8:27287554-27287554 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.104223 8p21.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.E268D c.804G>T 8 27146779 HNSC CC TT Missense p.E247K c.738_739delinsAA 8 27151620 CM - C Frameshift p.A469Cfs*267 c.1403dupG 8 27145146 COREAD C G Missense p.E212Q c.634G>C 8 27151725 BRCA C G Missense p.V405L c.1213G>C 8 27145336 LUAD C T Missense p.E435K c.1303G>A 8 27145246 HNSC C T Missense p.E438K c.1312G>A 8 27145237 ESCA C T Missense p.G89D c.266G>A 8 27168487 CM C T Missense p.M165I c.495G>A 8 27156017 UCEC C T Missense p.R133H c.398G>A 8 27168355 UCEC C T Missense p.R240Q c.719G>A 8 27151640 BRCA C T Missense p.V372M c.1114G>A 8 27145435 STAD C T Synonymous p.S413S c.1239G>A 8 27145310 STAD C T Synonymous p.S418S c.1254G>A 8 27145295 UCEC G A IntronicSNV . c.762+35C>T 8 27151562 CM G A Missense p.A472V c.1415C>T 8 27145134 CM G A Missense p.P308L c.923C>T 8 27145626 CM G A Missense p.R156W c.466C>T 8 27156046 STAD G A Missense p.R195C c.583C>T 8 27151776 COREAD G A Missense p.R290C c.868C>T 8 27146715 CM G A Missense p.S341L c.1022C>T 8 27145527 HNSC G A Synonymous p.G380G c.1140C>T 8 27145409 BLCA G A Synonymous p.G437G c.1311C>T 8 27145238 STAD G A Synonymous p.G471G c.1413C>T 8 27145136 STAD G A Synonymous p.H454H c.1362C>T 8 27145187 UCEC G C Missense p.F15L c.45C>G 8 27168708 BLCA G C Missense p.T322S c.965C>G 8 27145584 HNSC GG AA Missense p.R330C c.987_988delinsTT 8 27145561 CM G T Missense p.P343T c.1027C>A 8 27145522 HNSC T A Missense p.E88V c.263A>T 8 27168490 LUAD T A Missense p.T322S c.964A>T 8 27145585 SCLC