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 ACC 6 18122526 18122526 + Silent SNP A A G TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr6:18122526A>G c.312T>C c.(310-312)caT>caC p.H104H BLCA 6 18121781 18121781 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr6:18121781G>A c.1057C>T c.(1057-1059)Cca>Tca p.P353S BLCA 6 18121856 18121856 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 g.chr6:18121856C>G c.982G>C c.(982-984)Gat>Cat p.D328H BLCA 6 18122075 18122075 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 g.chr6:18122075C>T c.763G>A c.(763-765)Gaa>Aaa p.E255K BLCA 6 18122076 18122076 + Silent SNP A A G TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr6:18122076A>G c.762T>C c.(760-762)acT>acC p.T254T BLCA 6 18122174 18122174 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr6:18122174C>G c.664G>C c.(664-666)Gag>Cag p.E222Q BLCA 6 18122648 18122648 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr6:18122648G>A c.190C>T c.(190-192)Ctg>Ttg p.L64L BLCA 6 18122722 18122722 + Missense_Mutation SNP C C T TCGA-2F-A9KR-01A-11D-A38G-08 TCGA-2F-A9KR-10A-01D-A38J-08 g.chr6:18122722C>T c.116G>A c.(115-117)cGg>cAg p.R39Q BLCA 6 18122747 18122747 + Missense_Mutation SNP C C G TCGA-LC-A66R-01A-41D-A30E-08 TCGA-LC-A66R-10A-01D-A30H-08 g.chr6:18122747C>G c.91G>C c.(91-93)Gag>Cag p.E31Q BLCA 6 18122765 18122765 + Nonsense_Mutation SNP C C A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 g.chr6:18122765C>A c.73G>T c.(73-75)Gag>Tag p.E25* BLCA 6 18122780 18122780 + Missense_Mutation SNP C C T TCGA-2F-A9KR-01A-11D-A38G-08 TCGA-2F-A9KR-10A-01D-A38J-08 g.chr6:18122780C>T c.58G>A c.(58-60)Gag>Aag p.E20K BLCA 6 18122786 18122786 + Missense_Mutation SNP C C G TCGA-2F-A9KR-01A-11D-A38G-08 TCGA-2F-A9KR-10A-01D-A38J-08 g.chr6:18122786C>G c.52G>C c.(52-54)Gag>Cag p.E18Q BLCA 6 18122786 18122786 + Missense_Mutation SNP C C G TCGA-LC-A66R-01A-41D-A30E-08 TCGA-LC-A66R-10A-01D-A30H-08 g.chr6:18122786C>G c.52G>C c.(52-54)Gag>Cag p.E18Q BLCA 6 18122786 18122786 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr6:18122786C>G c.52G>C c.(52-54)Gag>Cag p.E18Q BLCA 6 18122786 18122786 + Missense_Mutation SNP C C T TCGA-DK-AA6W-01A-12D-A391-08 TCGA-DK-AA6W-10A-01D-A394-08 g.chr6:18122786C>T c.52G>A c.(52-54)Gag>Aag p.E18K BLCA 6 18122786 18122786 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 g.chr6:18122786C>T c.52G>A c.(52-54)Gag>Aag p.E18K BLCA 6 18122786 18122786 + Nonsense_Mutation SNP C C A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr6:18122786C>A c.52G>T c.(52-54)Gag>Tag p.E18* BLCA 6 18122819 18122819 + Missense_Mutation SNP C C G TCGA-K4-AAQO-01A-11D-A38G-08 TCGA-K4-AAQO-10A-01D-A38J-08 g.chr6:18122819C>G c.19G>C c.(19-21)Gag>Cag p.E7Q BRCA 6 18121699 18121699 + Missense_Mutation SNP A A G TCGA-BH-A18J-01A-11D-A12B-09 TCGA-BH-A18J-11A-31D-A12B-09 g.chr6:18121699A>G c.1139T>C c.(1138-1140)cTg>cCg p.L380P BRCA 6 18121861 18121861 + Missense_Mutation SNP G G A TCGA-AO-A12F-01A-11D-A10Y-09 TCGA-AO-A12F-10A-01D-A110-09 g.chr6:18121861G>A c.977C>T c.(976-978)aCc>aTc p.T326I BRCA 6 18122254 18122254 + Missense_Mutation SNP T T G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 g.chr6:18122254T>G c.584A>C c.(583-585)gAt>gCt p.D195A CESC 6 18121697 18121697 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr6:18121697C>T c.1141G>A c.(1141-1143)Gac>Aac p.D381N CHOL 6 18122100 18122100 + Silent SNP G G A TCGA-ZH-A8Y6-01A-11D-A417-09 TCGA-ZH-A8Y6-10A-01D-A41A-09 g.chr6:18122100G>A c.738C>T c.(736-738)ttC>ttT p.F246F COAD 6 18121983 18121983 + Silent SNP C C G TCGA-D5-7000-01A-11D-1924-10 TCGA-D5-7000-10A-01D-1924-10 g.chr6:18121983C>G c.855G>C c.(853-855)ctG>ctC p.L285L COAD 6 18121994 18121994 + Missense_Mutation SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr6:18121994G>A c.844C>T c.(844-846)Ccc>Tcc p.P282S COAD 6 18122199 18122199 + Silent SNP G G T TCGA-AA-3975-01A-01W-0995-10 TCGA-AA-3975-10A-01W-0999-10 g.chr6:18122199G>T c.639C>A c.(637-639)ggC>ggA p.G213G COAD 6 18122225 18122226 + Frame_Shift_Ins INS - - A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr6:18122225_18122226insA c.612_613insT c.(610-615)tttggcfs p.G205fs COAD 6 18122226 18122226 + Frame_Shift_Del DEL A A - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr6:18122226delA c.612delT c.(610-612)tttfs p.F204fs COAD 6 18122346 18122346 + Silent SNP A A G TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr6:18122346A>G c.492T>C c.(490-492)ttT>ttC p.F164F COAD 6 18122370 18122370 + Silent SNP T T C TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr6:18122370T>C c.468A>G c.(466-468)tcA>tcG p.S156S COADREAD 6 18121983 18121983 + Silent SNP C C G TCGA-D5-7000-01A-11D-1924-10 TCGA-D5-7000-10A-01D-1924-10 g.chr6:18121983C>G c.855G>C c.(853-855)ctG>ctC p.L285L COADREAD 6 18121994 18121994 + Missense_Mutation SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr6:18121994G>A c.844C>T c.(844-846)Ccc>Tcc p.P282S COADREAD 6 18122199 18122199 + Silent SNP G G T TCGA-AA-3975-01A-01W-0995-10 TCGA-AA-3975-10A-01W-0999-10 g.chr6:18122199G>T c.639C>A c.(637-639)ggC>ggA p.G213G COADREAD 6 18122225 18122226 + Frame_Shift_Ins INS - - A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr6:18122225_18122226insA c.612_613insT c.(610-615)tttggcfs p.G205fs COADREAD 6 18122226 18122226 + Frame_Shift_Del DEL A A - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr6:18122226delA c.612delT c.(610-612)tttfs p.F204fs COADREAD 6 18122346 18122346 + Silent SNP A A G TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr6:18122346A>G c.492T>C c.(490-492)ttT>ttC p.F164F COADREAD 6 18122370 18122370 + Silent SNP T T C TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr6:18122370T>C c.468A>G c.(466-468)tcA>tcG p.S156S COADREAD 6 18122594 18122594 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:18122594C>T c.244G>A c.(244-246)Gac>Aac p.D82N GBM 6 18122155 18122155 + Missense_Mutation SNP C C T TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 g.chr6:18122155C>T c.683G>A c.(682-684)gGg>gAg p.G228E GBMLGG 6 18121764 18121764 + Missense_Mutation SNP C C T TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 g.chr6:18121764C>T c.1074G>A c.(1072-1074)atG>atA p.M358I GBMLGG 6 18122155 18122155 + Missense_Mutation SNP C C T TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 g.chr6:18122155C>T c.683G>A c.(682-684)gGg>gAg p.G228E HNSC 6 18121917 18121917 + Silent SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 g.chr6:18121917C>T c.921G>A c.(919-921)gtG>gtA p.V307V HNSC 6 18122141 18122141 + Missense_Mutation SNP C C G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 g.chr6:18122141C>G c.697G>C c.(697-699)Gat>Cat p.D233H HNSC 6 18122404 18122404 + Missense_Mutation SNP T T C TCGA-CN-A641-01A-11D-A30E-08 TCGA-CN-A641-10A-01D-A30H-08 g.chr6:18122404T>C c.434A>G c.(433-435)cAc>cGc p.H145R HNSC 6 18122513 18122513 + Missense_Mutation SNP T T A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 g.chr6:18122513T>A c.325A>T c.(325-327)Agc>Tgc p.S109C HNSC 6 18122525 18122525 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 g.chr6:18122525G>A c.313C>T c.(313-315)Cgc>Tgc p.R105C HNSC 6 18122653 18122653 + Missense_Mutation SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 g.chr6:18122653C>T c.185G>A c.(184-186)cGc>cAc p.R62H HNSC 6 18122747 18122747 + Missense_Mutation SNP C C G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 g.chr6:18122747C>G c.91G>C c.(91-93)Gag>Cag p.E31Q KIPAN 6 18121925 18121925 + Missense_Mutation SNP C C T TCGA-5P-A9K0-01A-11D-A42J-10 TCGA-5P-A9K0-10A-01D-A42M-10 g.chr6:18121925C>T c.913G>A c.(913-915)Ggc>Agc p.G305S KIRP 6 18121925 18121925 + Missense_Mutation SNP C C T TCGA-5P-A9K0-01A-11D-A42J-10 TCGA-5P-A9K0-10A-01D-A42M-10 g.chr6:18121925C>T c.913G>A c.(913-915)Ggc>Agc p.G305S LGG 6 18121764 18121764 + Missense_Mutation SNP C C T TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 g.chr6:18121764C>T c.1074G>A c.(1072-1074)atG>atA p.M358I LUAD 6 18121925 18121925 + Missense_Mutation SNP C C T TCGA-55-8616-01A-11D-2393-08 TCGA-55-8616-10A-01D-2393-08 g.chr6:18121925C>T c.913G>A c.(913-915)Ggc>Agc p.G305S LUAD 6 18122334 18122334 + Silent SNP C C T TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr6:18122334C>T c.504G>A c.(502-504)ggG>ggA p.G168G LUAD 6 18122390 18122390 + Missense_Mutation SNP G G A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr6:18122390G>A c.448C>T c.(448-450)Cgt>Tgt p.R150C LUAD 6 18122755 18122755 + Missense_Mutation SNP A A C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr6:18122755A>C c.83T>G c.(82-84)gTg>gGg p.V28G LUAD 6 18122805 18122805 + Silent SNP C C G TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr6:18122805C>G c.33G>C c.(31-33)gcG>gcC p.A11A LUSC 6 18121939 18121939 + Missense_Mutation SNP C C G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr6:18121939C>G c.899G>C c.(898-900)aGt>aCt p.S300T OV 6 18121872 18121872 + Silent SNP G G T TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 g.chr6:18121872G>T c.966C>A c.(964-966)gcC>gcA p.A322A OV 6 18122526 18122526 + Silent SNP A A G TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 g.chr6:18122526A>G c.312T>C c.(310-312)caT>caC p.H104H OV 6 18122526 18122526 + Silent SNP A A G TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 g.chr6:18122526A>G c.312T>C c.(310-312)caT>caC p.H104H PAAD 6 18122317 18122317 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:18122317A>C c.521T>G c.(520-522)aTt>aGt p.I174S READ 6 18122594 18122594 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:18122594C>T c.244G>A c.(244-246)Gac>Aac p.D82N SKCM 6 18121869 18121869 + Silent SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr6:18121869G>A c.969C>T c.(967-969)tcC>tcT p.S323S SKCM 6 18121870 18121870 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr6:18121870G>A c.968C>T c.(967-969)tCc>tTc p.S323F SKCM 6 18122048 18122048 + Missense_Mutation SNP G G A TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr6:18122048G>A c.790C>T c.(790-792)Ccc>Tcc p.P264S SKCM 6 18122653 18122653 + Missense_Mutation SNP C C T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr6:18122653C>T c.185G>A c.(184-186)cGc>cAc p.R62H

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 6 18121856 18121856 single base substitution C G missense_variant D328H 982G>C BLCA-US 6 18122075 18122075 single base substitution C T missense_variant E255K 763G>A BLCA-US 6 18122174 18122174 single base substitution C G missense_variant E222Q 664G>C BLCA-US 6 18122765 18122765 single base substitution C A stop_gained E25* 73G>T BLCA-US 6 18122786 18122786 single base substitution C A stop_gained E18* 52G>T BLCA-US 6 18122786 18122786 single base substitution C T missense_variant E18K 52G>A BRCA-EU 6 18116707 18116707 deletion of <=200bp A - downstream_gene_variant BRCA-EU 6 18117210 18117210 single base substitution C A downstream_gene_variant BRCA-EU 6 18117546 18117546 single base substitution T G downstream_gene_variant BRCA-EU 6 18117623 18117623 single base substitution A G downstream_gene_variant BRCA-EU 6 18118405 18118405 single base substitution A T downstream_gene_variant BRCA-EU 6 18118600 18118600 single base substitution A G downstream_gene_variant BRCA-EU 6 18118615 18118615 single base substitution G T downstream_gene_variant BRCA-EU 6 18119279 18119279 single base substitution C A downstream_gene_variant BRCA-EU 6 18122019 18122019 single base substitution G A synonymous_variant T273T 819C>T BRCA-EU 6 18122403 18122403 single base substitution G A synonymous_variant H145H 435C>T BRCA-EU 6 18124983 18124983 single base substitution C G upstream_gene_variant BRCA-EU 6 18125054 18125054 single base substitution C T upstream_gene_variant BRCA-EU 6 18126065 18126065 single base substitution T A upstream_gene_variant BRCA-EU 6 18126562 18126562 single base substitution A G upstream_gene_variant BRCA-EU 6 18127272 18127272 single base substitution T A upstream_gene_variant BRCA-EU 6 18127557 18127557 single base substitution A T upstream_gene_variant BRCA-UK 6 18122298 18122298 single base substitution G A synonymous_variant V180V 540C>T BRCA-US 6 18121699 18121699 single base substitution A G missense_variant L380P 1139T>C BRCA-US 6 18121861 18121861 single base substitution G A missense_variant T326I 977C>T BRCA-US 6 18122254 18122254 single base substitution T G missense_variant D195A 584A>C BTCA-JP 6 18121923 18121923 single base substitution G A synonymous_variant G305G 915C>T CESC-US 6 18121697 18121697 single base substitution C T missense_variant D381N 1141G>A CLLE-ES 6 18127263 18127263 single base substitution A C upstream_gene_variant COAD-US 6 18121983 18121983 single base substitution C G synonymous_variant L285L 855G>C COAD-US 6 18122225 18122225 insertion of <=200bp - A frameshift_variant G205V? COAD-US 6 18122506 18122506 single base substitution G A missense_variant P111L 332C>T COCA-CN 6 18121099 18121099 single base substitution A C 3_prime_UTR_variant COCA-CN 6 18122193 18122193 single base substitution G T missense_variant F215L 645C>A COCA-CN 6 18122256 18122256 single base substitution G A synonymous_variant G194G 582C>T COCA-CN 6 18122403 18122403 single base substitution G A synonymous_variant H145H 435C>T COCA-CN 6 18122421 18122421 single base substitution C T synonymous_variant G139G 417G>A ESAD-UK 6 18116811 18116811 single base substitution T C downstream_gene_variant ESAD-UK 6 18117325 18117325 single base substitution G C downstream_gene_variant ESAD-UK 6 18117764 18117764 single base substitution T C downstream_gene_variant ESAD-UK 6 18119258 18119258 single base substitution C T downstream_gene_variant ESAD-UK 6 18121873 18121873 single base substitution G A missense_variant A322V 965C>T ESAD-UK 6 18122226 18122226 deletion of <=200bp A - frameshift_variant F204 ESAD-UK 6 18122378 18122378 single base substitution A C missense_variant F154V 460T>G ESAD-UK 6 18124878 18124878 insertion of <=200bp - T upstream_gene_variant ESAD-UK 6 18124966 18124966 single base substitution A T upstream_gene_variant ESAD-UK 6 18126616 18126616 single base substitution C T upstream_gene_variant GBM-US 6 18122155 18122155 single base substitution C T missense_variant G228E 683G>A LICA-FR 6 18119184 18119184 single base substitution G A downstream_gene_variant LICA-FR 6 18121894 18121894 single base substitution T C missense_variant Y315C 944A>G LINC-JP 6 18121673 18121673 single base substitution C T missense_variant V389I 1165G>A LINC-JP 6 18124490 18124490 single base substitution C T upstream_gene_variant LINC-JP 6 18126929 18126929 single base substitution T C upstream_gene_variant LIRI-JP 6 18116741 18116741 single base substitution C G downstream_gene_variant LIRI-JP 6 18118337 18118337 single base substitution T C downstream_gene_variant LIRI-JP 6 18118927 18118927 single base substitution C T downstream_gene_variant LIRI-JP 6 18120148 18120148 single base substitution C G downstream_gene_variant LIRI-JP 6 18121887 18121887 single base substitution G A synonymous_variant P317P 951C>T LIRI-JP 6 18123074 18123074 single base substitution A C upstream_gene_variant LIRI-JP 6 18123608 18123608 single base substitution C G upstream_gene_variant LIRI-JP 6 18124076 18124076 single base substitution C A upstream_gene_variant LIRI-JP 6 18124218 18124218 single base substitution T G upstream_gene_variant LIRI-JP 6 18125355 18125355 single base substitution G A upstream_gene_variant LIRI-JP 6 18127546 18127546 single base substitution T C upstream_gene_variant LUSC-KR 6 18115780 18115780 single base substitution C G downstream_gene_variant LUSC-KR 6 18120372 18120372 single base substitution C A downstream_gene_variant LUSC-KR 6 18121661 18121661 single base substitution C G missense_variant D393H 1177G>C LUSC-KR 6 18123413 18123413 single base substitution T A upstream_gene_variant LUSC-KR 6 18123463 18123463 single base substitution C A upstream_gene_variant LUSC-KR 6 18126963 18126963 single base substitution T C upstream_gene_variant LUSC-US 6 18121939 18121939 single base substitution C G missense_variant S300T 899G>C MALY-DE 6 18116124 18116124 single base substitution A C downstream_gene_variant MALY-DE 6 18117835 18117835 single base substitution T G downstream_gene_variant MALY-DE 6 18123463 18123463 single base substitution C A upstream_gene_variant MELA-AU 6 18115950 18115950 single base substitution C T downstream_gene_variant MELA-AU 6 18115970 18115970 single base substitution T A downstream_gene_variant MELA-AU 6 18116014 18116014 single base substitution C T downstream_gene_variant MELA-AU 6 18116132 18116132 single base substitution G T downstream_gene_variant MELA-AU 6 18116287 18116287 single base substitution G A downstream_gene_variant MELA-AU 6 18116471 18116471 single base substitution C T downstream_gene_variant MELA-AU 6 18117199 18117199 single base substitution G A downstream_gene_variant MELA-AU 6 18117346 18117346 single base substitution G A downstream_gene_variant MELA-AU 6 18117609 18117609 single base substitution G A downstream_gene_variant MELA-AU 6 18118900 18118900 single base substitution C T downstream_gene_variant MELA-AU 6 18119077 18119077 single base substitution T C downstream_gene_variant MELA-AU 6 18119281 18119281 single base substitution G A downstream_gene_variant MELA-AU 6 18119994 18119994 single base substitution C T downstream_gene_variant MELA-AU 6 18120420 18120420 single base substitution C T downstream_gene_variant MELA-AU 6 18121177 18121177 single base substitution G A 3_prime_UTR_variant MELA-AU 6 18121399 18121399 single base substitution T G 3_prime_UTR_variant MELA-AU 6 18121425 18121425 single base substitution G A 3_prime_UTR_variant MELA-AU 6 18121810 18121810 single base substitution A T missense_variant I343N 1028T>A MELA-AU 6 18122100 18122100 single base substitution G A synonymous_variant F246F 738C>T MELA-AU 6 18122125 18122125 single base substitution G A missense_variant S238F 713C>T MELA-AU 6 18122977 18122977 single base substitution C T upstream_gene_variant MELA-AU 6 18122991 18122991 single base substitution C T upstream_gene_variant MELA-AU 6 18123541 18123541 single base substitution A G upstream_gene_variant MELA-AU 6 18124321 18124321 single base substitution C T upstream_gene_variant MELA-AU 6 18124599 18124599 single base substitution C T upstream_gene_variant MELA-AU 6 18124873 18124873 single base substitution G A upstream_gene_variant MELA-AU 6 18125220 18125220 single base substitution C T upstream_gene_variant MELA-AU 6 18125225 18125225 single base substitution G A upstream_gene_variant MELA-AU 6 18125314 18125314 single base substitution G A upstream_gene_variant MELA-AU 6 18125484 18125484 single base substitution C T upstream_gene_variant MELA-AU 6 18126599 18126599 single base substitution G A upstream_gene_variant MELA-AU 6 18127484 18127484 single base substitution A G upstream_gene_variant MELA-AU 6 18127703 18127703 single base substitution G A upstream_gene_variant ORCA-IN 6 18122135 18122135 single base substitution C G missense_variant E235Q 703G>C OV-AU 6 18124172 18124172 single base substitution C G upstream_gene_variant PACA-AU 6 18115990 18115990 single base substitution G A downstream_gene_variant PACA-AU 6 18122320 18122320 single base substitution T C missense_variant D173G 518A>G PACA-CA 6 18116707 18116708 deletion of <=200bp AA - downstream_gene_variant PACA-CA 6 18117305 18117305 deletion of <=200bp A - downstream_gene_variant PACA-CA 6 18117778 18117778 single base substitution C T downstream_gene_variant PACA-CA 6 18118803 18118803 single base substitution G C downstream_gene_variant PACA-CA 6 18121731 18121731 single base substitution A G synonymous_variant L369L 1107T>C PACA-CA 6 18123463 18123463 single base substitution C A upstream_gene_variant PACA-CA 6 18123636 18123636 single base substitution G A upstream_gene_variant PACA-CA 6 18126648 18126648 single base substitution C T upstream_gene_variant PAEN-IT 6 18121562 18121562 single base substitution T C 3_prime_UTR_variant PBCA-DE 6 18125608 18125608 single base substitution C A upstream_gene_variant PRAD-UK 6 18121320 18121320 single base substitution G A 3_prime_UTR_variant PRAD-UK 6 18123832 18123832 single base substitution C T upstream_gene_variant PRAD-UK 6 18124755 18124755 single base substitution C T upstream_gene_variant READ-US 6 18122506 18122506 single base substitution G A missense_variant P111L 332C>T RECA-EU 6 18116786 18116786 single base substitution T A downstream_gene_variant RECA-EU 6 18118921 18118921 single base substitution C T downstream_gene_variant RECA-EU 6 18126736 18126736 single base substitution T A upstream_gene_variant SKCA-BR 6 18116420 18116420 single base substitution T C downstream_gene_variant SKCA-BR 6 18116940 18116940 single base substitution C T downstream_gene_variant SKCA-BR 6 18117606 18117606 single base substitution C T downstream_gene_variant SKCA-BR 6 18117821 18117821 single base substitution A C downstream_gene_variant SKCA-BR 6 18119726 18119726 single base substitution G A downstream_gene_variant SKCA-BR 6 18119932 18119932 single base substitution G A downstream_gene_variant SKCA-BR 6 18124204 18124204 single base substitution C T upstream_gene_variant SKCA-BR 6 18125571 18125571 single base substitution G A upstream_gene_variant SKCA-BR 6 18125960 18125960 single base substitution T C upstream_gene_variant SKCA-BR 6 18126624 18126624 single base substitution T G upstream_gene_variant SKCM-US 6 18122048 18122048 single base substitution G A missense_variant P264S 790C>T SKCM-US 6 18122653 18122653 single base substitution C T missense_variant R62H 185G>A STAD-US 6 18122018 18122018 single base substitution C A missense_variant G274W 820G>T STAD-US 6 18122083 18122083 single base substitution C T missense_variant R252Q 755G>A STAD-US 6 18122100 18122100 single base substitution G A synonymous_variant F246F 738C>T STAD-US 6 18122144 18122144 single base substitution T C missense_variant T232A 694A>G STAD-US 6 18122226 18122226 deletion of <=200bp A - frameshift_variant F204 STAD-US 6 18122356 18122356 single base substitution G A missense_variant A161V 482C>T STAD-US 6 18122487 18122487 single base substitution G A synonymous_variant H117H 351C>T STAD-US 6 18122551 18122551 single base substitution G A missense_variant A96V 287C>T STAD-US 6 18122645 18122645 single base substitution C T missense_variant A65T 193G>A STAD-US 6 18122675 18122675 single base substitution C T missense_variant V55M 163G>A THCA-SA 6 18122526 18122526 single base substitution A G synonymous_variant H104H 312T>C UCEC-US 6 18121746 18121746 single base substitution C T synonymous_variant S364S 1092G>A UCEC-US 6 18121926 18121926 single base substitution G A synonymous_variant V304V 912C>T UCEC-US 6 18122080 18122080 single base substitution C A missense_variant R253I 758G>T UCEC-US 6 18122093 18122093 single base substitution C A missense_variant G249W 745G>T UCEC-US 6 18122160 18122160 single base substitution C A missense_variant Q226H 678G>T UCEC-US 6 18122475 18122475 single base substitution G T synonymous_variant G121G 363C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AF-6136-01 COSM3749962 c.332C>T p.P111L Substitution - Missense 6:18122275-18122275 - LUAD-S01478 COSM400031 c.52G>C p.E18Q Substitution - Missense 6:18122555-18122555 - TCGA-D1-A17Q-01 COSM1076366 c.363C>A p.G121G Substitution - coding silent 6:18122244-18122244 - 8016537 COSM3393993 c.518A>G p.D173G Substitution - Missense 6:18122089-18122089 - TCGA-B5-A0JY-01 COSM1076365 c.678G>T p.Q226H Substitution - Missense 6:18121929-18121929 - PDA_008 COSM3749962 c.332C>T p.P111L Substitution - Missense 6:18122275-18122275 - CHC2216T COSM4805922 c.944A>G p.Y315C Substitution - Missense 6:18121663-18121663 - TCGA-32-1980-01 COSM3410824 c.683G>A p.G228E Substitution - Missense 6:18121924-18121924 - PCSI_0090_Pa_X COSM3381376 c.1107T>C p.L369L Substitution - coding silent 6:18121500-18121500 - Gp2D COSM1442414 c.612delT p.F204fs*28 Deletion - Frameshift 6:18121995-18121995 - TCGA-AG-A002-01 COSM289735 c.244G>A p.D82N Substitution - Missense 6:18122363-18122363 - T22 COSM307616 c.692T>A p.V231E Substitution - Missense 6:18121915-18121915 - TCGA-ER-A19P-06 COSM3623124 c.185G>A p.R62H Substitution - Missense 6:18122422-18122422 - TCGA-D8-A1XL-01 COSM1487497 c.584A>C p.D195A Substitution - Missense 6:18122023-18122023 - TCGA-GV-A3JW-01 COSM3777348 c.52G>A p.E18K Substitution - Missense 6:18122555-18122555 - LUAD-S01478 COSM400030 c.115C>T p.R39W Substitution - Missense 6:18122492-18122492 - MU_19 COSM5967075 c.797G>T p.G266V Substitution - Missense 6:18121810-18121810 - CSCC-49-T COSM4506572 c.723C>T p.L241L Substitution - coding silent 6:18121884-18121884 - TCGA-29-1701-01 COSM1329196 c.312T>C p.H104H Substitution - coding silent 6:18122295-18122295 - TCGA-Q1-A73O-01 COSM4835298 c.1141G>A p.D381N Substitution - Missense 6:18121466-18121466 - 35M COSM5581845 c.847_848insC p.L283fs*16 Insertion - Frameshift 6:18121759-18121760 - sysucc-311T COSM5466769 c.417G>A p.G139G Substitution - coding silent 6:18122190-18122190 - M018 COSM1739213 c.586C>T p.R196C Substitution - Missense 6:18122021-18122021 - PD4126a COSM162905 c.540C>T p.V180V Substitution - coding silent 6:18122067-18122067 - TCGA-BH-A18J-01 COSM450955 c.1139T>C p.L380P Substitution - Missense 6:18121468-18121468 - STC232 COSM400030 c.115C>T p.R39W Substitution - Missense 6:18122492-18122492 - CSCC-59-T COSM4566931 c.512_513CC>TT p.A171V Substitution - Missense 6:18122094-18122095 - PT15_1 COSM5897591 c.407C>T p.P136L Substitution - Missense 6:18122200-18122200 - OSCC-GB_00980111 COSM4882029 c.703G>C p.E235Q Substitution - Missense 6:18121904-18121904 - TCGA-AA-3713-01 COSM3749962 c.332C>T p.P111L Substitution - Missense 6:18122275-18122275 - pfg016T COSM1642955 c.873C>T p.S291S Substitution - coding silent 6:18121734-18121734 - HCT116 COSM1442414 c.612delT p.F204fs*28 Deletion - Frameshift 6:18121995-18121995 - S00830 COSM317687 c.648C>T p.S216S Substitution - coding silent 6:18121959-18121959 - S02249 COSM5680192 c.423C>T p.V141V Substitution - coding silent 6:18122184-18122184 - TCGA-CM-5861-01 COSM1442413 c.612_613insT p.G205fs*29 Insertion - Frameshift 6:18121994-18121995 - T3021 COSM4706839 c.399G>A p.A133A Substitution - coding silent 6:18122208-18122208 - Gp5D COSM1442414 c.612delT p.F204fs*28 Deletion - Frameshift 6:18121995-18121995 - TCGA-BR-6452-01 COSM3860658 c.820G>T p.G274W Substitution - Missense 6:18121787-18121787 - TCGA-D7-A4YY-01 COSM3860664 c.287C>T p.A96V Substitution - Missense 6:18122320-18122320 - PCSI_0090_Pa_P COSM3381376 c.1107T>C p.L369L Substitution - coding silent 6:18121500-18121500 - TCGA-61-2613-01 COSM1329196 c.312T>C p.H104H Substitution - coding silent 6:18122295-18122295 - TCGA-BS-A0TC-01 COSM1076363 c.758G>T p.R253I Substitution - Missense 6:18121849-18121849 - DLD1 COSM4625727 c.1039G>T p.G347* Substitution - Nonsense 6:18121568-18121568 - TCGA-B5-A0JY-01 COSM1076361 c.1092G>A p.S364S Substitution - coding silent 6:18121515-18121515 - TCGA-AY-6386-01 COSM3749962 c.332C>T p.P111L Substitution - Missense 6:18122275-18122275 - I2L-P19Ta-Tumor-Organoid COSM5357322 c.674C>A p.P225H Substitution - Missense 6:18121933-18121933 - 2290929 COSM4440063 c.49C>T p.R17C Substitution - Missense 6:18122558-18122558 - TCGA-D1-A17Q-01 COSM1076364 c.745G>T p.G249W Substitution - Missense 6:18121862-18121862 - YUDEDE COSM1696951 c.673C>T p.P225S Substitution - Missense 6:18121934-18121934 - TCGA-AA-3663-01 COSM3749962 c.332C>T p.P111L Substitution - Missense 6:18122275-18122275 - YUKSI COSM5404874 c.300C>T p.S100S Substitution - coding silent 6:18122307-18122307 - S00830 COSM317687 c.648C>T p.S216S Substitution - coding silent 6:18121959-18121959 - TCGA-GV-A3JW-01 COSM1311835 c.982G>C p.D328H Substitution - Missense 6:18121625-18121625 - LOVO COSM1442414 c.612delT p.F204fs*28 Deletion - Frameshift 6:18121995-18121995 - TCGA-AO-A12F-01 COSM450956 c.977C>T p.T326I Substitution - Missense 6:18121630-18121630 - TCGA-CG-5726-01 COSM3860663 c.351C>T p.H117H Substitution - coding silent 6:18122256-18122256 - TCGA-G2-A2EC-01 COSM1311836 c.763G>A p.E255K Substitution - Missense 6:18121844-18121844 - T3090 COSM4706838 c.741G>A p.A247A Substitution - coding silent 6:18121866-18121866 - CSCC-29-T COSM4489761 c.352C>T p.H118Y Substitution - Missense 6:18122255-18122255 - HCC54 COSM1621242 c.1165G>A p.V389I Substitution - Missense 6:18121442-18121442 - pfg016T COSM1442414 c.612delT p.F204fs*28 Deletion - Frameshift 6:18121995-18121995 - HCC54T COSM1621242 c.1165G>A p.V389I Substitution - Missense 6:18121442-18121442 - CRC-02T COSM5455469 c.435C>T p.H145H Substitution - coding silent 6:18122172-18122172 - 587332 COSM1217291 c.122C>T p.P41L Substitution - Missense 6:18122485-18122485 - RK133_C01 COSM1634650 c.951C>T p.P317P Substitution - coding silent 6:18121656-18121656 - TCGA-DK-A1A3-01 COSM420969 c.664G>C p.E222Q Substitution - Missense 6:18121943-18121943 - LUAD-S01404 COSM405166 c.958_959insA p.I320fs*9 Insertion - Frameshift 6:18121648-18121649 - TCGA-BR-6452-01 COSM3860661 c.694A>G p.T232A Substitution - Missense 6:18121913-18121913 - TCGA-D3-A3ML-06 COSM3623123 c.790C>T p.P264S Substitution - Missense 6:18121817-18121817 - BRC11 COSM400031 c.52G>C p.E18Q Substitution - Missense 6:18122555-18122555 - CRC-02T COSM5455468 c.582C>T p.G194G Substitution - coding silent 6:18122025-18122025 - TCGA-D5-6928-01 COSM3749962 c.332C>T p.P111L Substitution - Missense 6:18122275-18122275 - T298 COSM4706837 c.969C>T p.S323S Substitution - coding silent 6:18121638-18121638 - TCGA-AA-3975-01 COSM297442 c.639C>A p.G213G Substitution - coding silent 6:18121968-18121968 - TCGA-HJ-7597-01 COSM3860662 c.482C>T p.A161V Substitution - Missense 6:18122125-18122125 - 1N55-VS-1T55 COSM4977118 c.1031T>C p.L344P Substitution - Missense 6:18121576-18121576 - TCGA-D1-A15X-01 COSM1076362 c.912C>T p.V304V Substitution - coding silent 6:18121695-18121695 - TCGA-66-2787-01 COSM741033 c.899G>C p.S300T Substitution - Missense 6:18121708-18121708 - TCGA-HU-A4GN-01 COSM3860660 c.738C>T p.F246F Substitution - coding silent 6:18121869-18121869 - TCGA-04-1652-01 COSM1329197 c.966C>A p.A322A Substitution - coding silent 6:18121641-18121641 - 1N25-VS-1T25 COSM4973405 c.813G>A p.W271* Substitution - Nonsense 6:18121794-18121794 - TCGA-BR-4370-01 COSM3860666 c.163G>A p.V55M Substitution - Missense 6:18122444-18122444 - TCGA-CG-4442-01 COSM3860665 c.193G>A p.A65T Substitution - Missense 6:18122414-18122414 - PD6047a COSM5788537 c.819C>T p.T273T Substitution - coding silent 6:18121788-18121788 - I2L-P19Ta-Tumor-Biopsy COSM5357322 c.674C>A p.P225H Substitution - Missense 6:18121933-18121933 - TCGA-D5-7000-01 COSM1442412 c.855G>C p.L285L Substitution - coding silent 6:18121752-18121752 - ME029T COSM226575 c.625C>T p.L209F Substitution - Missense 6:18121982-18121982 - 19 COSM5746529 c.508G>A p.A170T Substitution - Missense 6:18122099-18122099 - TCGA-BR-4256-01 COSM3860659 c.755G>A p.R252Q Substitution - Missense 6:18121852-18121852 - BD49T COSM5497823 c.915C>T p.G305G Substitution - coding silent 6:18121692-18121692 - NB-0230 COSM1286596 c.392G>C p.G131A Substitution - Missense 6:18122215-18122215 - LS411 COSM2856205 c.904C>T p.Q302* Substitution - Nonsense 6:18121703-18121703 - TCGA-G4-6293-01 COSM3749962 c.332C>T p.P111L Substitution - Missense 6:18122275-18122275 - BZ20 COSM5758551 c.666G>T p.E222D Substitution - Missense 6:18121941-18121941 - TCGA-GV-A3JW-01 COSM1311837 c.73G>T p.E25* Substitution - Nonsense 6:18122534-18122534 - TCGA-DK-A1A3-01 COSM420968 c.52G>T p.E18* Substitution - Nonsense 6:18122555-18122555 - CHC2216T COSM4805922 c.944A>G p.Y315C Substitution - Missense 6:18121663-18121663 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.348346;Hs.348350;Hs.348351 6p22.3 608072

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.F204Lfs*28 c.612delT 6 18122226 STAD A G Missense p.L380P c.1139T>C 6 18121699 BRCA C A Missense p.R253I c.758G>T 6 18122080 UCEC C A Missense p.V180F c.538G>T 6 18122300 BRCA C A Nonsense p.E18* c.52G>T 6 18122786 BLCA C A Nonsense p.E25* c.73G>T 6 18122765 BLCA C A Synonymous p.G286G c.858G>T 6 18121980 STAD C G Missense p.D233H c.697G>C 6 18122141 HNSC C G Missense p.D328H c.982G>C 6 18121856 BLCA C G Missense p.E18Q c.52G>C 6 18122786 BRCA C G Missense p.E222Q c.664G>C 6 18122174 BLCA C G Missense p.E31Q c.91G>C 6 18122747 HNSC C G Missense p.G131A c.392G>C 6 18122446 NB C G Missense p.S300T c.899G>C 6 18121939 LUSC C T 3-UTRSNV . c.1185+12G>A 6 18121641 CM C T Missense p.E18K c.52G>A 6 18122786 BLCA C T Missense p.E18K c.52G>A 6 18122786 BRCA C T Missense p.E255K c.763G>A 6 18122075 BLCA C T Missense p.G228E c.683G>A 6 18122155 GBM C T Missense p.R252Q c.755G>A 6 18122083 STAD C T Missense p.R62H c.185G>A 6 18122653 CM C T Missense p.V55M c.163G>A 6 18122675 STAD C T Synonymous p.G168G c.504G>A 6 18122334 LUAD C T Synonymous p.V307V c.921G>A 6 18121917 HNSC G A Missense p.P101S c.301C>T 6 18122537 CM G A Missense p.P264L c.791C>T 6 18122047 CM G A Missense p.P264S c.790C>T 6 18122048 CM G A Missense p.R105C c.313C>T 6 18122525 HNSC G A Missense p.T326I c.977C>T 6 18121861 BRCA G A Synonymous p.H117H c.351C>T 6 18122487 STAD G A Synonymous p.P317P c.951C>T 6 18121887 HC G A Synonymous p.S216S c.648C>T 6 18122190 SCLC G A Synonymous p.S291S c.873C>T 6 18121965 STAD G A Synonymous p.V180V c.540C>T 6 18122298 BRCA G C Missense p.Q214E c.640C>G 6 18122198 CM G T Missense p.L369I c.1105C>A 6 18121733 STAD G T Synonymous p.G213G c.639C>A 6 18122199 COREAD T A Missense p.S109C c.325A>T 6 18122513 HNSC T G Missense p.D195A c.584A>C 6 18122254 BRCA