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 6 170110336 170110336 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr6:170110336T>C c.1109A>G c.(1108-1110)tAc>tGc p.Y370C BLCA 6 170110477 170110477 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr6:170110477G>A c.968C>T c.(967-969)tCt>tTt p.S323F BLCA 6 170112610 170112610 + Silent SNP G G A TCGA-DK-AA6Q-01A-11D-A391-08 TCGA-DK-AA6Q-10A-01D-A394-08 g.chr6:170112610G>A c.829C>T c.(829-831)Ctg>Ttg p.L277L BLCA 6 170118987 170118987 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr6:170118987C>T c.222G>A c.(220-222)ttG>ttA p.L74L COAD 6 170104148 170104148 + Frame_Shift_Del DEL G G - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr6:170104148delG c.1448delC c.(1447-1449)ccafs p.P483fs COAD 6 170105740 170105740 + Silent SNP A A C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr6:170105740A>C c.1194T>G c.(1192-1194)ctT>ctG p.L398L COAD 6 170112613 170112613 + Missense_Mutation SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr6:170112613A>G c.826T>C c.(826-828)Tat>Cat p.Y276H COAD 6 170115888 170115888 + Silent SNP A A G TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr6:170115888A>G c.609T>C c.(607-609)gcT>gcC p.A203A COAD 6 170116085 170116085 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr6:170116085C>T c.509G>A c.(508-510)cGt>cAt p.R170H COAD 6 170116169 170116169 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:170116169C>T c.425G>A c.(424-426)cGc>cAc p.R142H COAD 6 170117956 170117956 + Silent SNP T T C TCGA-CM-5863-01A-21D-1835-10 TCGA-CM-5863-10A-01D-1835-10 g.chr6:170117956T>C c.372A>G c.(370-372)agA>agG p.R124R COAD 6 170117956 170117956 + Silent SNP T T C TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr6:170117956T>C c.372A>G c.(370-372)agA>agG p.R124R COAD 6 170117956 170117956 + Silent SNP T T C TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr6:170117956T>C c.372A>G c.(370-372)agA>agG p.R124R COAD 6 170117956 170117956 + Silent SNP T T C TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr6:170117956T>C c.372A>G c.(370-372)agA>agG p.R124R COAD 6 170117956 170117956 + Silent SNP T T C TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr6:170117956T>C c.372A>G c.(370-372)agA>agG p.R124R COAD 6 170117956 170117956 + Silent SNP T T C TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr6:170117956T>C c.372A>G c.(370-372)agA>agG p.R124R COADREAD 6 170104148 170104148 + Frame_Shift_Del DEL G G - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr6:170104148delG c.1448delC c.(1447-1449)ccafs p.P483fs COADREAD 6 170105399 170105399 + Missense_Mutation SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:170105399T>C c.1241A>G c.(1240-1242)gAt>gGt p.D414G COADREAD 6 170105740 170105740 + Silent SNP A A C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr6:170105740A>C c.1194T>G c.(1192-1194)ctT>ctG p.L398L COADREAD 6 170112613 170112613 + Missense_Mutation SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr6:170112613A>G c.826T>C c.(826-828)Tat>Cat p.Y276H COADREAD 6 170115888 170115888 + Silent SNP A A G TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr6:170115888A>G c.609T>C c.(607-609)gcT>gcC p.A203A COADREAD 6 170116085 170116085 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr6:170116085C>T c.509G>A c.(508-510)cGt>cAt p.R170H COADREAD 6 170116169 170116169 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:170116169C>T c.425G>A c.(424-426)cGc>cAc p.R142H COADREAD 6 170117956 170117956 + Silent SNP T T C TCGA-CM-5863-01A-21D-1835-10 TCGA-CM-5863-10A-01D-1835-10 g.chr6:170117956T>C c.372A>G c.(370-372)agA>agG p.R124R COADREAD 6 170117956 170117956 + Silent SNP T T C TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr6:170117956T>C c.372A>G c.(370-372)agA>agG p.R124R COADREAD 6 170117956 170117956 + Silent SNP T T C TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr6:170117956T>C c.372A>G c.(370-372)agA>agG p.R124R COADREAD 6 170117956 170117956 + Silent SNP T T C TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr6:170117956T>C c.372A>G c.(370-372)agA>agG p.R124R COADREAD 6 170117956 170117956 + Silent SNP T T C TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr6:170117956T>C c.372A>G c.(370-372)agA>agG p.R124R COADREAD 6 170117956 170117956 + Silent SNP T T C TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr6:170117956T>C c.372A>G c.(370-372)agA>agG p.R124R DLBC 6 170105725 170105725 + Silent SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr6:170105725T>C c.1209A>G c.(1207-1209)caA>caG p.Q403Q ESCA 6 170114892 170114892 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 g.chr6:170114892C>A c.740G>T c.(739-741)cGa>cTa p.R247L ESCA 6 170117959 170117959 + Silent SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr6:170117959C>G c.369G>C c.(367-369)ctG>ctC p.L123L GBMLGG 6 170112612 170112612 + Missense_Mutation SNP T T C TCGA-FG-6690-01A-11D-1893-08 TCGA-FG-6690-10A-01D-1893-08 g.chr6:170112612T>C c.827A>G c.(826-828)tAt>tGt p.Y276C GBMLGG 6 170115929 170115930 + Frame_Shift_Del DEL TC TC - TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 g.chr6:170115929_170115930delTC c.567_568delGA c.(565-570)cagaaafs p.K190fs HNSC 6 170112526 170112526 + Missense_Mutation SNP C C T TCGA-CV-7235-01A-11D-2012-08 TCGA-CV-7235-10A-01D-2013-08 g.chr6:170112526C>T c.913G>A c.(913-915)Gaa>Aaa p.E305K KICH 6 170115851 170115851 + Missense_Mutation SNP G G A TCGA-KM-8442-01A-11D-2310-10 TCGA-KM-8442-10A-01D-2311-10 g.chr6:170115851G>A c.646C>T c.(646-648)Cgg>Tgg p.R216W KICH 6 170115857 170115857 + Missense_Mutation SNP A A C TCGA-KM-8442-01A-11D-2310-10 TCGA-KM-8442-10A-01D-2311-10 g.chr6:170115857A>C c.640T>G c.(640-642)Tta>Gta p.L214V KICH 6 170115864 170115864 + Silent SNP A A G TCGA-KM-8442-01A-11D-2310-10 TCGA-KM-8442-10A-01D-2311-10 g.chr6:170115864A>G c.633T>C c.(631-633)aaT>aaC p.N211N KICH 6 170115873 170115873 + Silent SNP T T A TCGA-KM-8442-01A-11D-2310-10 TCGA-KM-8442-10A-01D-2311-10 g.chr6:170115873T>A c.624A>T c.(622-624)gcA>gcT p.A208A KIPAN 6 170112545 170112545 + Missense_Mutation SNP A A T TCGA-UZ-A9PJ-01A-11D-A382-10 TCGA-UZ-A9PJ-10A-01D-A385-10 g.chr6:170112545A>T c.894T>A c.(892-894)gaT>gaA p.D298E KIPAN 6 170115851 170115851 + Missense_Mutation SNP G G A TCGA-KM-8442-01A-11D-2310-10 TCGA-KM-8442-10A-01D-2311-10 g.chr6:170115851G>A c.646C>T c.(646-648)Cgg>Tgg p.R216W KIPAN 6 170115857 170115857 + Missense_Mutation SNP A A C TCGA-KM-8442-01A-11D-2310-10 TCGA-KM-8442-10A-01D-2311-10 g.chr6:170115857A>C c.640T>G c.(640-642)Tta>Gta p.L214V KIPAN 6 170115864 170115864 + Silent SNP A A G TCGA-KM-8442-01A-11D-2310-10 TCGA-KM-8442-10A-01D-2311-10 g.chr6:170115864A>G c.633T>C c.(631-633)aaT>aaC p.N211N KIPAN 6 170115873 170115873 + Silent SNP T T A TCGA-KM-8442-01A-11D-2310-10 TCGA-KM-8442-10A-01D-2311-10 g.chr6:170115873T>A c.624A>T c.(622-624)gcA>gcT p.A208A KIRP 6 170112545 170112545 + Missense_Mutation SNP A A T TCGA-UZ-A9PJ-01A-11D-A382-10 TCGA-UZ-A9PJ-10A-01D-A385-10 g.chr6:170112545A>T c.894T>A c.(892-894)gaT>gaA p.D298E LGG 6 170112612 170112612 + Missense_Mutation SNP T T C TCGA-FG-6690-01A-11D-1893-08 TCGA-FG-6690-10A-01D-1893-08 g.chr6:170112612T>C c.827A>G c.(826-828)tAt>tGt p.Y276C LGG 6 170115929 170115930 + Frame_Shift_Del DEL TC TC - TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 g.chr6:170115929_170115930delTC c.567_568delGA c.(565-570)cagaaafs p.K190fs LIHC 6 170105298 170105298 + Missense_Mutation SNP T T C TCGA-DD-A1EA-01A-11D-A12Z-10 TCGA-DD-A1EA-10A-01D-A12Z-10 g.chr6:170105298T>C c.1342A>G c.(1342-1344)Atg>Gtg p.M448V LIHC 6 170105298 170105298 + Missense_Mutation SNP T T C TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr6:170105298T>C c.1342A>G c.(1342-1344)Atg>Gtg p.M448V LIHC 6 170112536 170112536 + Silent SNP T T A TCGA-ED-A7PZ-01A-11D-A33Q-10 TCGA-ED-A7PZ-10A-01D-A33Q-10 g.chr6:170112536T>A c.903A>T c.(901-903)tcA>tcT p.S301S LIHC 6 170112622 170112622 + Nonsense_Mutation SNP C C A TCGA-G3-A5SL-01A-11D-A27I-10 TCGA-G3-A5SL-10A-01D-A27I-10 g.chr6:170112622C>A c.817G>T c.(817-819)Gag>Tag p.E273* LIHC 6 170114882 170114882 + Silent SNP G G T TCGA-MI-A75H-01A-11D-A32G-10 TCGA-MI-A75H-10A-01D-A32G-10 g.chr6:170114882G>T c.750C>A c.(748-750)gtC>gtA p.V250V LIHC 6 170116083 170116083 + Nonsense_Mutation SNP G G A TCGA-MI-A75E-01A-11D-A32G-10 TCGA-MI-A75E-10A-01D-A32G-10 g.chr6:170116083G>A c.511C>T c.(511-513)Caa>Taa p.Q171* LIHC 6 170123958 170123959 + Frame_Shift_Ins INS - - G TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr6:170123958_170123959insG c.69_70insC c.(67-72)cccggafs p.G24fs LUSC 6 170105257 170105257 + Silent SNP A A G TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 g.chr6:170105257A>G c.1383T>C c.(1381-1383)ttT>ttC p.F461F LUSC 6 170112605 170112605 + Silent SNP T T A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 g.chr6:170112605T>A c.834A>T c.(832-834)ccA>ccT p.P278P LUSC 6 170114900 170114900 + Silent SNP T T G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 g.chr6:170114900T>G c.732A>C c.(730-732)ccA>ccC p.P244P LUSC 6 170115902 170115902 + Missense_Mutation SNP A A C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 g.chr6:170115902A>C c.595T>G c.(595-597)Tat>Gat p.Y199D PAAD 6 170104118 170104118 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:170104118T>G c.1478A>C c.(1477-1479)aAa>aCa p.K493T PAAD 6 170118947 170118947 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:170118947A>G c.262T>C c.(262-264)Tat>Cat p.Y88H PRAD 6 170105319 170105319 + Nonsense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr6:170105319G>A c.1321C>T c.(1321-1323)Caa>Taa p.Q441* PRAD 6 170114863 170114863 + Missense_Mutation SNP G G C TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 g.chr6:170114863G>C c.769C>G c.(769-771)Ctc>Gtc p.L257V READ 6 170105399 170105399 + Missense_Mutation SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:170105399T>C c.1241A>G c.(1240-1242)gAt>gGt p.D414G SKCM 6 170110373 170110373 + Missense_Mutation SNP G G A TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr6:170110373G>A c.1072C>T c.(1072-1074)Ccc>Tcc p.P358S SKCM 6 170110429 170110429 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr6:170110429G>A c.1016C>T c.(1015-1017)tCt>tTt p.S339F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 6 170110769 170110769 single base substitution C T intron_variant BRCA-EU 6 170099214 170099214 single base substitution T C downstream_gene_variant BRCA-EU 6 170099791 170099791 single base substitution A G downstream_gene_variant BRCA-EU 6 170104006 170104006 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 6 170104006 170104006 deletion of <=200bp A - downstream_gene_variant BRCA-EU 6 170104716 170104717 deletion of <=200bp TT - downstream_gene_variant BRCA-EU 6 170104716 170104717 deletion of <=200bp TT - intron_variant BRCA-EU 6 170106937 170106937 single base substitution C T downstream_gene_variant BRCA-EU 6 170106937 170106937 single base substitution C T intron_variant BRCA-EU 6 170109899 170109899 deletion of <=200bp A - exon_variant BRCA-EU 6 170109899 170109899 deletion of <=200bp A - intron_variant BRCA-EU 6 170110090 170110090 deletion of <=200bp A - exon_variant BRCA-EU 6 170110090 170110090 deletion of <=200bp A - intron_variant BRCA-EU 6 170110116 170110116 single base substitution T C exon_variant BRCA-EU 6 170110116 170110116 single base substitution T C intron_variant BRCA-EU 6 170113712 170113712 single base substitution A T downstream_gene_variant BRCA-EU 6 170113712 170113712 single base substitution A T intron_variant BRCA-EU 6 170113831 170113831 single base substitution A G downstream_gene_variant BRCA-EU 6 170113831 170113831 single base substitution A G intron_variant BRCA-EU 6 170114104 170114104 single base substitution C T downstream_gene_variant BRCA-EU 6 170114104 170114104 single base substitution C T intron_variant BRCA-EU 6 170114223 170114223 single base substitution A C downstream_gene_variant BRCA-EU 6 170114223 170114223 single base substitution A C intron_variant BRCA-EU 6 170116991 170116991 single base substitution C A downstream_gene_variant BRCA-EU 6 170116991 170116991 single base substitution C A intron_variant BRCA-EU 6 170117979 170117979 single base substitution G T exon_variant BRCA-EU 6 170117979 170117979 single base substitution G T missense_variant H115N 343C>A BRCA-EU 6 170117979 170117979 single base substitution G T missense_variant H117N 349C>A BRCA-EU 6 170118766 170118766 deletion of <=200bp A - intron_variant BRCA-EU 6 170119563 170119563 single base substitution C G intron_variant BRCA-EU 6 170119563 170119563 single base substitution C G upstream_gene_variant BRCA-EU 6 170119622 170119622 single base substitution C A intron_variant BRCA-EU 6 170119622 170119622 single base substitution C A upstream_gene_variant BRCA-EU 6 170120086 170120086 deletion of <=200bp A - intron_variant BRCA-EU 6 170120086 170120086 deletion of <=200bp A - upstream_gene_variant BRCA-EU 6 170121523 170121523 deletion of <=200bp A - intron_variant BRCA-EU 6 170121523 170121523 deletion of <=200bp A - upstream_gene_variant BRCA-EU 6 170121677 170121677 single base substitution C T intron_variant BRCA-EU 6 170121677 170121677 single base substitution C T upstream_gene_variant BRCA-EU 6 170122153 170122153 single base substitution G C intron_variant BRCA-EU 6 170122153 170122153 single base substitution G C upstream_gene_variant BRCA-EU 6 170123091 170123091 single base substitution C T intron_variant BRCA-EU 6 170123091 170123091 single base substitution C T upstream_gene_variant BRCA-EU 6 170123475 170123475 single base substitution A T intron_variant BRCA-EU 6 170123475 170123475 single base substitution A T upstream_gene_variant BRCA-EU 6 170125030 170125030 insertion of <=200bp - GG upstream_gene_variant BRCA-EU 6 170126392 170126392 single base substitution G A upstream_gene_variant BRCA-EU 6 170127538 170127538 deletion of <=200bp A - upstream_gene_variant BRCA-FR 6 170102021 170102021 single base substitution G A downstream_gene_variant BRCA-FR 6 170122153 170122153 single base substitution G C intron_variant BRCA-FR 6 170122153 170122153 single base substitution G C upstream_gene_variant BRCA-FR 6 170122174 170122174 single base substitution T C intron_variant BRCA-FR 6 170122174 170122174 single base substitution T C upstream_gene_variant BRCA-FR 6 170123997 170123997 single base substitution G A exon_variant BRCA-FR 6 170123997 170123997 single base substitution G A synonymous_variant L11L 31C>T BRCA-FR 6 170123997 170123997 single base substitution G A upstream_gene_variant BRCA-UK 6 170113315 170113315 single base substitution C T downstream_gene_variant BRCA-UK 6 170113315 170113315 single base substitution C T intron_variant BRCA-UK 6 170114223 170114223 single base substitution A C downstream_gene_variant BRCA-UK 6 170114223 170114223 single base substitution A C intron_variant BTCA-JP 6 170102247 170102247 single base substitution C T downstream_gene_variant BTCA-JP 6 170103996 170103996 single base substitution C A downstream_gene_variant BTCA-JP 6 170105478 170105478 single base substitution T A downstream_gene_variant BTCA-JP 6 170105478 170105478 single base substitution T A intron_variant BTCA-JP 6 170115851 170115851 single base substitution G A downstream_gene_variant BTCA-JP 6 170115851 170115851 single base substitution G A exon_variant BTCA-JP 6 170115851 170115851 single base substitution G A missense_variant R214W 640C>T BTCA-JP 6 170115851 170115851 single base substitution G A missense_variant R216W 646C>T BTCA-JP 6 170115864 170115864 single base substitution A G downstream_gene_variant BTCA-JP 6 170115864 170115864 single base substitution A G exon_variant BTCA-JP 6 170115864 170115864 single base substitution A G synonymous_variant N209N 627T>C BTCA-JP 6 170115864 170115864 single base substitution A G synonymous_variant N211N 633T>C BTCA-JP 6 170115873 170115873 single base substitution T A downstream_gene_variant BTCA-JP 6 170115873 170115873 single base substitution T A exon_variant BTCA-JP 6 170115873 170115873 single base substitution T A synonymous_variant A206A 618A>T BTCA-JP 6 170115873 170115873 single base substitution T A synonymous_variant A208A 624A>T BTCA-JP 6 170116083 170116083 single base substitution G A downstream_gene_variant BTCA-JP 6 170116083 170116083 single base substitution G A exon_variant BTCA-JP 6 170116083 170116083 single base substitution G A stop_gained Q169* 505C>T BTCA-JP 6 170116083 170116083 single base substitution G A stop_gained Q171* 511C>T CESC-US 6 170102991 170102991 single base substitution G A downstream_gene_variant CLLE-ES 6 170107479 170107479 single base substitution A G exon_variant CLLE-ES 6 170107479 170107479 single base substitution A G intron_variant CLLE-ES 6 170120926 170120926 single base substitution G C intron_variant CLLE-ES 6 170120926 170120926 single base substitution G C upstream_gene_variant COAD-US 6 170104148 170104148 deletion of <=200bp G - downstream_gene_variant COAD-US 6 170104148 170104148 deletion of <=200bp G - frameshift_variant P481 COAD-US 6 170104148 170104148 deletion of <=200bp G - frameshift_variant P483 COAD-US 6 170105213 170105213 deletion of <=200bp T - downstream_gene_variant COAD-US 6 170105213 170105213 deletion of <=200bp T - intron_variant COAD-US 6 170116085 170116085 single base substitution C T downstream_gene_variant COAD-US 6 170116085 170116085 single base substitution C T exon_variant COAD-US 6 170116085 170116085 single base substitution C T missense_variant R168H 503G>A COAD-US 6 170116085 170116085 single base substitution C T missense_variant R170H 509G>A COAD-US 6 170116169 170116169 single base substitution C T downstream_gene_variant COAD-US 6 170116169 170116169 single base substitution C T exon_variant COAD-US 6 170116169 170116169 single base substitution C T missense_variant R140H 419G>A COAD-US 6 170116169 170116169 single base substitution C T missense_variant R142H 425G>A COAD-US 6 170117956 170117956 single base substitution T C exon_variant COAD-US 6 170117956 170117956 single base substitution T C synonymous_variant R122R 366A>G COAD-US 6 170117956 170117956 single base substitution T C synonymous_variant R124R 372A>G COAD-US 6 170121105 170121105 single base substitution G T exon_variant COAD-US 6 170121105 170121105 single base substitution G T missense_variant L64I 190C>A COAD-US 6 170121105 170121105 single base substitution G T upstream_gene_variant COCA-CN 6 170105129 170105129 single base substitution C T downstream_gene_variant COCA-CN 6 170105129 170105129 single base substitution C T intron_variant COCA-CN 6 170105373 170105373 single base substitution T G downstream_gene_variant COCA-CN 6 170105373 170105373 single base substitution T G missense_variant I421L 1261A>C COCA-CN 6 170105373 170105373 single base substitution T G missense_variant I423L 1267A>C COCA-CN 6 170105553 170105553 single base substitution T C downstream_gene_variant COCA-CN 6 170105553 170105553 single base substitution T C intron_variant COCA-CN 6 170105871 170105871 single base substitution G T downstream_gene_variant COCA-CN 6 170105871 170105871 single base substitution G T intron_variant COCA-CN 6 170106829 170106829 single base substitution C T downstream_gene_variant COCA-CN 6 170106829 170106829 single base substitution C T intron_variant COCA-CN 6 170116813 170116813 single base substitution T G downstream_gene_variant COCA-CN 6 170116813 170116813 single base substitution T G intron_variant COCA-CN 6 170128176 170128176 single base substitution G T upstream_gene_variant EOPC-DE 6 170104421 170104421 single base substitution G A downstream_gene_variant EOPC-DE 6 170104421 170104421 single base substitution G A intron_variant ESAD-UK 6 170099734 170099734 single base substitution C A downstream_gene_variant ESAD-UK 6 170101424 170101424 single base substitution G A downstream_gene_variant ESAD-UK 6 170104006 170104006 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 6 170104006 170104006 insertion of <=200bp - A downstream_gene_variant ESAD-UK 6 170104481 170104481 insertion of <=200bp - A downstream_gene_variant ESAD-UK 6 170104481 170104481 insertion of <=200bp - A intron_variant ESAD-UK 6 170105137 170105137 single base substitution C A downstream_gene_variant ESAD-UK 6 170105137 170105137 single base substitution C A intron_variant ESAD-UK 6 170106095 170106095 single base substitution G T downstream_gene_variant ESAD-UK 6 170106095 170106095 single base substitution G T intron_variant ESAD-UK 6 170106603 170106603 single base substitution G A downstream_gene_variant ESAD-UK 6 170106603 170106603 single base substitution G A intron_variant ESAD-UK 6 170106655 170106655 single base substitution A G downstream_gene_variant ESAD-UK 6 170106655 170106655 single base substitution A G intron_variant ESAD-UK 6 170106745 170106745 single base substitution A C downstream_gene_variant ESAD-UK 6 170106745 170106745 single base substitution A C intron_variant ESAD-UK 6 170108376 170108376 single base substitution G A exon_variant ESAD-UK 6 170108376 170108376 single base substitution G A intron_variant ESAD-UK 6 170110577 170110577 single base substitution A C intron_variant ESAD-UK 6 170112274 170112274 single base substitution A G intron_variant ESAD-UK 6 170112345 170112345 single base substitution G A intron_variant ESAD-UK 6 170116726 170116726 single base substitution T A downstream_gene_variant ESAD-UK 6 170116726 170116726 single base substitution T A intron_variant ESAD-UK 6 170117240 170117240 single base substitution C T downstream_gene_variant ESAD-UK 6 170117240 170117240 single base substitution C T intron_variant ESAD-UK 6 170118466 170118466 single base substitution A C intron_variant ESAD-UK 6 170118662 170118662 single base substitution A C intron_variant ESAD-UK 6 170120070 170120070 deletion of <=200bp A - intron_variant ESAD-UK 6 170120070 170120070 deletion of <=200bp A - upstream_gene_variant ESAD-UK 6 170120573 170120573 insertion of <=200bp - A intron_variant ESAD-UK 6 170120573 170120573 insertion of <=200bp - A upstream_gene_variant ESAD-UK 6 170123059 170123059 single base substitution G C intron_variant ESAD-UK 6 170123059 170123059 single base substitution G C upstream_gene_variant ESAD-UK 6 170123681 170123681 single base substitution A T intron_variant ESAD-UK 6 170123681 170123681 single base substitution A T upstream_gene_variant ESAD-UK 6 170126408 170126408 single base substitution T A upstream_gene_variant ESAD-UK 6 170128370 170128370 single base substitution A G upstream_gene_variant ESCA-CN 6 170105404 170105404 single base substitution G T downstream_gene_variant ESCA-CN 6 170105404 170105404 single base substitution G T stop_gained C410* 1230C>A ESCA-CN 6 170105404 170105404 single base substitution G T stop_gained C412* 1236C>A ESCA-CN 6 170116073 170116073 single base substitution G A downstream_gene_variant ESCA-CN 6 170116073 170116073 single base substitution G A exon_variant ESCA-CN 6 170116073 170116073 single base substitution G A missense_variant T172I 515C>T ESCA-CN 6 170116073 170116073 single base substitution G A missense_variant T174I 521C>T LAML-KR 6 170114670 170114670 single base substitution A G downstream_gene_variant LAML-KR 6 170114670 170114670 single base substitution A G intron_variant LGG-US 6 170112612 170112612 single base substitution T C exon_variant LGG-US 6 170112612 170112612 single base substitution T C missense_variant Y274C 821A>G LGG-US 6 170112612 170112612 single base substitution T C missense_variant Y276C 827A>G LICA-CN 6 170114828 170114828 single base substitution C T downstream_gene_variant LICA-CN 6 170114828 170114828 single base substitution C T intron_variant LICA-CN 6 170114828 170114828 single base substitution C T splice_donor_variant LICA-CN 6 170118904 170118904 single base substitution G A exon_variant LICA-CN 6 170118904 170118904 single base substitution G A missense_variant S102F 305C>T LICA-FR 6 170100156 170100156 single base substitution C G downstream_gene_variant LICA-FR 6 170112619 170112619 deletion of <=200bp G - exon_variant LICA-FR 6 170112619 170112619 deletion of <=200bp G - frameshift_variant L272 LICA-FR 6 170112619 170112619 deletion of <=200bp G - frameshift_variant L274 LICA-FR 6 170113352 170113352 single base substitution T C downstream_gene_variant LICA-FR 6 170113352 170113352 single base substitution T C intron_variant LICA-FR 6 170115879 170115879 insertion of <=200bp - T downstream_gene_variant LICA-FR 6 170115879 170115879 insertion of <=200bp - T exon_variant LICA-FR 6 170115879 170115879 insertion of <=200bp - T frameshift_variant K204K? LICA-FR 6 170115879 170115879 insertion of <=200bp - T frameshift_variant K206K? LICA-FR 6 170128633 170128633 single base substitution G C upstream_gene_variant LIHC-US 6 170102922 170102922 single base substitution T A downstream_gene_variant LIHC-US 6 170105298 170105298 single base substitution T C downstream_gene_variant LIHC-US 6 170105298 170105298 single base substitution T C missense_variant M446V 1336A>G LIHC-US 6 170105298 170105298 single base substitution T C missense_variant M448V 1342A>G LIHC-US 6 170112536 170112536 single base substitution T A exon_variant LIHC-US 6 170112536 170112536 single base substitution T A synonymous_variant S299S 897A>T LIHC-US 6 170112536 170112536 single base substitution T A synonymous_variant S301S 903A>T LIHC-US 6 170112622 170112622 single base substitution C A exon_variant LIHC-US 6 170112622 170112622 single base substitution C A stop_gained E271* 811G>T LIHC-US 6 170112622 170112622 single base substitution C A stop_gained E273* 817G>T LIHC-US 6 170114882 170114882 single base substitution G T downstream_gene_variant LIHC-US 6 170114882 170114882 single base substitution G T intron_variant LIHC-US 6 170114882 170114882 single base substitution G T synonymous_variant V248V 744C>A LIHC-US 6 170114882 170114882 single base substitution G T synonymous_variant V250V 750C>A LIHC-US 6 170116083 170116083 single base substitution G A downstream_gene_variant LIHC-US 6 170116083 170116083 single base substitution G A exon_variant LIHC-US 6 170116083 170116083 single base substitution G A stop_gained Q169* 505C>T LIHC-US 6 170116083 170116083 single base substitution G A stop_gained Q171* 511C>T LINC-JP 6 170103777 170103777 single base substitution A G downstream_gene_variant LINC-JP 6 170107493 170107493 single base substitution A C exon_variant LINC-JP 6 170107493 170107493 single base substitution A C intron_variant LINC-JP 6 170110421 170110421 single base substitution C A exon_variant LINC-JP 6 170110421 170110421 single base substitution C A stop_gained G340* 1018G>T LINC-JP 6 170110421 170110421 single base substitution C A stop_gained G342* 1024G>T LINC-JP 6 170115877 170115886 deletion of <=200bp GCTTTTTTGG - downstream_gene_variant LINC-JP 6 170115877 170115886 deletion of <=200bp GCTTTTTTGG - exon_variant LINC-JP 6 170115877 170115886 deletion of <=200bp GCTTTTTTGG - frameshift_variant AKKA202 LINC-JP 6 170115877 170115886 deletion of <=200bp GCTTTTTTGG - frameshift_variant AKKA204 LINC-JP 6 170115968 170115968 single base substitution T A downstream_gene_variant LINC-JP 6 170115968 170115968 single base substitution T A intron_variant LINC-JP 6 170115970 170115970 single base substitution C A downstream_gene_variant LINC-JP 6 170115970 170115970 single base substitution C A intron_variant LINC-JP 6 170119075 170119075 single base substitution T G exon_variant LINC-JP 6 170119075 170119075 single base substitution T G intron_variant LIRI-JP 6 170101591 170101591 single base substitution C A downstream_gene_variant LIRI-JP 6 170102677 170102677 single base substitution T G downstream_gene_variant LIRI-JP 6 170102888 170102888 single base substitution G A downstream_gene_variant LIRI-JP 6 170106296 170106296 single base substitution T A downstream_gene_variant LIRI-JP 6 170106296 170106296 single base substitution T A intron_variant LIRI-JP 6 170107640 170107640 single base substitution A G exon_variant LIRI-JP 6 170107640 170107640 single base substitution A G intron_variant LIRI-JP 6 170108203 170108203 single base substitution T G exon_variant LIRI-JP 6 170108203 170108203 single base substitution T G intron_variant LIRI-JP 6 170109423 170109423 deletion of <=200bp T - exon_variant LIRI-JP 6 170109423 170109423 deletion of <=200bp T - intron_variant LIRI-JP 6 170110841 170110841 single base substitution A C intron_variant LIRI-JP 6 170114827 170114827 single base substitution A G downstream_gene_variant LIRI-JP 6 170114827 170114827 single base substitution A G intron_variant LIRI-JP 6 170114827 170114827 single base substitution A G splice_donor_variant LIRI-JP 6 170115431 170115431 single base substitution T C downstream_gene_variant LIRI-JP 6 170115431 170115431 single base substitution T C intron_variant LIRI-JP 6 170118435 170118435 single base substitution T C intron_variant LIRI-JP 6 170119002 170119002 insertion of <=200bp - A exon_variant LIRI-JP 6 170119002 170119002 insertion of <=200bp - A frameshift_variant Y69Y? LIRI-JP 6 170119628 170119628 single base substitution T C intron_variant LIRI-JP 6 170119628 170119628 single base substitution T C upstream_gene_variant LIRI-JP 6 170125514 170125514 single base substitution T C upstream_gene_variant LUSC-KR 6 170102136 170102136 single base substitution C T downstream_gene_variant LUSC-KR 6 170102214 170102214 single base substitution C G downstream_gene_variant LUSC-KR 6 170102215 170102215 single base substitution T G downstream_gene_variant LUSC-KR 6 170103582 170103582 single base substitution C T downstream_gene_variant LUSC-KR 6 170115090 170115090 single base substitution G C downstream_gene_variant LUSC-KR 6 170115090 170115090 single base substitution G C intron_variant LUSC-KR 6 170119094 170119094 single base substitution A G exon_variant LUSC-KR 6 170119094 170119094 single base substitution A G intron_variant LUSC-KR 6 170120078 170120078 single base substitution C A intron_variant LUSC-KR 6 170120078 170120078 single base substitution C A upstream_gene_variant LUSC-US 6 170103065 170103065 single base substitution G T downstream_gene_variant LUSC-US 6 170105257 170105257 single base substitution A G downstream_gene_variant LUSC-US 6 170105257 170105257 single base substitution A G synonymous_variant F459F 1377T>C LUSC-US 6 170105257 170105257 single base substitution A G synonymous_variant F461F 1383T>C LUSC-US 6 170112605 170112605 single base substitution T A exon_variant LUSC-US 6 170112605 170112605 single base substitution T A synonymous_variant P276P 828A>T LUSC-US 6 170112605 170112605 single base substitution T A synonymous_variant P278P 834A>T LUSC-US 6 170114900 170114900 single base substitution T G downstream_gene_variant LUSC-US 6 170114900 170114900 single base substitution T G intron_variant LUSC-US 6 170114900 170114900 single base substitution T G synonymous_variant P242P 726A>C LUSC-US 6 170114900 170114900 single base substitution T G synonymous_variant P244P 732A>C LUSC-US 6 170115902 170115902 single base substitution A C downstream_gene_variant LUSC-US 6 170115902 170115902 single base substitution A C exon_variant LUSC-US 6 170115902 170115902 single base substitution A C missense_variant Y197D 589T>G LUSC-US 6 170115902 170115902 single base substitution A C missense_variant Y199D 595T>G MALY-DE 6 170102035 170102035 single base substitution G A downstream_gene_variant MALY-DE 6 170102047 170102047 single base substitution G A downstream_gene_variant MALY-DE 6 170107984 170107984 single base substitution A T exon_variant MALY-DE 6 170107984 170107984 single base substitution A T intron_variant MALY-DE 6 170108767 170108767 single base substitution T C exon_variant MALY-DE 6 170108767 170108767 single base substitution T C intron_variant MALY-DE 6 170112044 170112044 single base substitution T A intron_variant MALY-DE 6 170112257 170112257 single base substitution C G intron_variant MELA-AU 6 170099308 170099308 single base substitution G A downstream_gene_variant MELA-AU 6 170100404 170100404 single base substitution C A downstream_gene_variant MELA-AU 6 170100579 170100579 single base substitution C T downstream_gene_variant MELA-AU 6 170100986 170100986 single base substitution G A downstream_gene_variant MELA-AU 6 170100997 170100997 single base substitution T C downstream_gene_variant MELA-AU 6 170101131 170101131 single base substitution A G downstream_gene_variant MELA-AU 6 170102031 170102031 single base substitution C T downstream_gene_variant MELA-AU 6 170102089 170102089 single base substitution G A downstream_gene_variant MELA-AU 6 170102193 170102193 single base substitution C T downstream_gene_variant MELA-AU 6 170102297 170102297 single base substitution G A downstream_gene_variant MELA-AU 6 170102492 170102492 single base substitution G A downstream_gene_variant MELA-AU 6 170103057 170103092 deletion of <=200bp TCGCAAGAGGAGGAATCTGTTCTCTGGACGATATTA - downstream_gene_variant MELA-AU 6 170103805 170103805 single base substitution G A downstream_gene_variant MELA-AU 6 170103831 170103831 single base substitution G A downstream_gene_variant MELA-AU 6 170109423 170109423 single base substitution T A exon_variant MELA-AU 6 170109423 170109423 single base substitution T A intron_variant MELA-AU 6 170109618 170109618 single base substitution G A exon_variant MELA-AU 6 170109618 170109618 single base substitution G A intron_variant MELA-AU 6 170109746 170109746 single base substitution A G exon_variant MELA-AU 6 170109746 170109746 single base substitution A G intron_variant MELA-AU 6 170109771 170109771 single base substitution G A exon_variant MELA-AU 6 170109771 170109771 single base substitution G A intron_variant MELA-AU 6 170110017 170110017 single base substitution G A exon_variant MELA-AU 6 170110017 170110017 single base substitution G A intron_variant MELA-AU 6 170110806 170110806 single base substitution A C intron_variant MELA-AU 6 170111048 170111049 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 170111068 170111068 single base substitution G A intron_variant MELA-AU 6 170112303 170112303 single base substitution C T intron_variant MELA-AU 6 170113305 170113305 single base substitution G A downstream_gene_variant MELA-AU 6 170113305 170113305 single base substitution G A intron_variant MELA-AU 6 170113365 170113365 single base substitution G A downstream_gene_variant MELA-AU 6 170113365 170113365 single base substitution G A intron_variant MELA-AU 6 170113508 170113508 single base substitution A T downstream_gene_variant MELA-AU 6 170113508 170113508 single base substitution A T intron_variant MELA-AU 6 170113523 170113523 single base substitution C T downstream_gene_variant MELA-AU 6 170113523 170113523 single base substitution C T intron_variant MELA-AU 6 170113714 170113714 single base substitution T A downstream_gene_variant MELA-AU 6 170113714 170113714 single base substitution T A intron_variant MELA-AU 6 170113969 170113969 single base substitution G A downstream_gene_variant MELA-AU 6 170113969 170113969 single base substitution G A intron_variant MELA-AU 6 170114774 170114774 single base substitution C T downstream_gene_variant MELA-AU 6 170114774 170114774 single base substitution C T intron_variant MELA-AU 6 170114997 170114997 single base substitution G A downstream_gene_variant MELA-AU 6 170114997 170114997 single base substitution G A intron_variant MELA-AU 6 170116388 170116388 single base substitution A G downstream_gene_variant MELA-AU 6 170116388 170116388 single base substitution A G intron_variant MELA-AU 6 170117266 170117266 single base substitution A G downstream_gene_variant MELA-AU 6 170117266 170117266 single base substitution A G intron_variant MELA-AU 6 170118325 170118325 single base substitution G A intron_variant MELA-AU 6 170118391 170118391 single base substitution C T intron_variant MELA-AU 6 170118439 170118439 single base substitution G A intron_variant MELA-AU 6 170118576 170118576 single base substitution A G intron_variant MELA-AU 6 170119242 170119242 single base substitution G A exon_variant MELA-AU 6 170119242 170119242 single base substitution G A intron_variant MELA-AU 6 170119292 170119293 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 6 170119292 170119293 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 170119718 170119718 single base substitution G A intron_variant MELA-AU 6 170119718 170119718 single base substitution G A upstream_gene_variant MELA-AU 6 170119753 170119753 single base substitution G A intron_variant MELA-AU 6 170119753 170119753 single base substitution G A upstream_gene_variant MELA-AU 6 170120251 170120251 single base substitution G A intron_variant MELA-AU 6 170120251 170120251 single base substitution G A upstream_gene_variant MELA-AU 6 170120270 170120270 single base substitution A G intron_variant MELA-AU 6 170120270 170120270 single base substitution A G upstream_gene_variant MELA-AU 6 170120824 170120824 single base substitution C T intron_variant MELA-AU 6 170120824 170120824 single base substitution C T upstream_gene_variant MELA-AU 6 170121029 170121029 single base substitution G A intron_variant MELA-AU 6 170121029 170121029 single base substitution G A upstream_gene_variant MELA-AU 6 170121791 170121791 single base substitution T C intron_variant MELA-AU 6 170121791 170121791 single base substitution T C upstream_gene_variant MELA-AU 6 170123079 170123092 deletion of <=200bp CAAAATGAGTCTCA - intron_variant MELA-AU 6 170123079 170123092 deletion of <=200bp CAAAATGAGTCTCA - upstream_gene_variant MELA-AU 6 170126079 170126079 single base substitution C T upstream_gene_variant MELA-AU 6 170126599 170126599 single base substitution C T upstream_gene_variant MELA-AU 6 170127159 170127159 single base substitution G A upstream_gene_variant MELA-AU 6 170128002 170128002 single base substitution G A upstream_gene_variant MELA-AU 6 170128997 170128997 single base substitution C T upstream_gene_variant ORCA-IN 6 170101418 170101418 single base substitution T C downstream_gene_variant ORCA-IN 6 170111512 170111512 single base substitution C G intron_variant ORCA-IN 6 170122785 170122785 single base substitution G A intron_variant ORCA-IN 6 170122785 170122785 single base substitution G A upstream_gene_variant OV-AU 6 170100003 170100003 single base substitution C G downstream_gene_variant OV-AU 6 170111277 170111277 single base substitution T A intron_variant OV-AU 6 170123782 170123782 single base substitution G C intron_variant OV-AU 6 170123782 170123782 single base substitution G C upstream_gene_variant OV-AU 6 170126262 170126262 single base substitution C G upstream_gene_variant PACA-AU 6 170100204 170100204 single base substitution G A downstream_gene_variant PACA-AU 6 170104907 170104907 single base substitution C T downstream_gene_variant PACA-AU 6 170104907 170104907 single base substitution C T intron_variant PACA-AU 6 170106557 170106557 single base substitution A G downstream_gene_variant PACA-AU 6 170106557 170106557 single base substitution A G intron_variant PACA-AU 6 170106918 170106918 single base substitution C T downstream_gene_variant PACA-AU 6 170106918 170106918 single base substitution C T intron_variant PACA-AU 6 170106952 170106952 single base substitution C G downstream_gene_variant PACA-AU 6 170106952 170106952 single base substitution C G intron_variant PACA-AU 6 170107013 170107013 single base substitution C T downstream_gene_variant PACA-AU 6 170107013 170107013 single base substitution C T intron_variant PACA-AU 6 170107014 170107014 single base substitution C T downstream_gene_variant PACA-AU 6 170107014 170107014 single base substitution C T intron_variant PACA-AU 6 170107282 170107282 single base substitution C T exon_variant PACA-AU 6 170107282 170107282 single base substitution C T intron_variant PACA-AU 6 170109618 170109618 single base substitution G A exon_variant PACA-AU 6 170109618 170109618 single base substitution G A intron_variant PACA-AU 6 170116089 170116089 single base substitution C A downstream_gene_variant PACA-AU 6 170116089 170116089 single base substitution C A exon_variant PACA-AU 6 170116089 170116089 single base substitution C A stop_gained E167* 499G>T PACA-AU 6 170116089 170116089 single base substitution C A stop_gained E169* 505G>T PACA-CA 6 170102732 170102732 single base substitution G T downstream_gene_variant PACA-CA 6 170109192 170109192 single base substitution T A exon_variant PACA-CA 6 170109192 170109192 single base substitution T A intron_variant PACA-CA 6 170113592 170113592 single base substitution A C downstream_gene_variant PACA-CA 6 170113592 170113592 single base substitution A C intron_variant PACA-CA 6 170118135 170118135 deletion of <=200bp A - intron_variant PACA-CA 6 170121568 170121568 single base substitution C A intron_variant PACA-CA 6 170121568 170121568 single base substitution C A upstream_gene_variant PACA-CA 6 170126606 170126606 single base substitution G T upstream_gene_variant PBCA-DE 6 170102063 170102063 single base substitution C A downstream_gene_variant PBCA-DE 6 170103506 170103506 single base substitution G A downstream_gene_variant PBCA-DE 6 170106824 170106825 deletion of <=200bp AC - downstream_gene_variant PBCA-DE 6 170106824 170106825 deletion of <=200bp AC - intron_variant PBCA-DE 6 170113694 170113696 deletion of <=200bp CAA - downstream_gene_variant PBCA-DE 6 170113694 170113696 deletion of <=200bp CAA - intron_variant PBCA-DE 6 170113826 170113828 deletion of <=200bp ATG - downstream_gene_variant PBCA-DE 6 170113826 170113828 deletion of <=200bp ATG - intron_variant PBCA-DE 6 170115958 170115958 deletion of <=200bp A - downstream_gene_variant PBCA-DE 6 170115958 170115958 deletion of <=200bp A - splice_region_variant PBCA-DE 6 170116623 170116624 deletion of <=200bp CA - downstream_gene_variant PBCA-DE 6 170116623 170116624 deletion of <=200bp CA - intron_variant PBCA-DE 6 170118766 170118766 deletion of <=200bp A - intron_variant PBCA-DE 6 170124477 170124477 insertion of <=200bp - TCGCT upstream_gene_variant PBCA-DE 6 170126073 170126073 single base substitution G A upstream_gene_variant PBCA-DE 6 170128385 170128385 single base substitution G A upstream_gene_variant PRAD-CA 6 170101364 170101364 single base substitution G A downstream_gene_variant PRAD-CA 6 170120442 170120442 single base substitution G C intron_variant PRAD-CA 6 170120442 170120442 single base substitution G C upstream_gene_variant PRAD-CA 6 170123496 170123496 single base substitution G C intron_variant PRAD-CA 6 170123496 170123496 single base substitution G C upstream_gene_variant PRAD-UK 6 170117431 170117431 single base substitution C A downstream_gene_variant PRAD-UK 6 170117431 170117431 single base substitution C A intron_variant PRAD-UK 6 170118997 170118997 single base substitution G C exon_variant PRAD-UK 6 170118997 170118997 single base substitution G C missense_variant A71G 212C>G PRAD-UK 6 170126657 170126657 single base substitution A G upstream_gene_variant PRAD-US 6 170114863 170114863 single base substitution G C downstream_gene_variant PRAD-US 6 170114863 170114863 single base substitution G C intron_variant PRAD-US 6 170114863 170114863 single base substitution G C missense_variant L255V 763C>G PRAD-US 6 170114863 170114863 single base substitution G C missense_variant L257V 769C>G READ-US 6 170104189 170104189 insertion of <=200bp - A downstream_gene_variant READ-US 6 170104189 170104189 insertion of <=200bp - A intron_variant READ-US 6 170110384 170110384 single base substitution C A exon_variant READ-US 6 170110384 170110384 single base substitution C A missense_variant R352I 1055G>T READ-US 6 170110384 170110384 single base substitution C A missense_variant R354I 1061G>T RECA-EU 6 170101933 170101933 single base substitution C G downstream_gene_variant RECA-EU 6 170119643 170119643 single base substitution A T intron_variant RECA-EU 6 170119643 170119643 single base substitution A T upstream_gene_variant RECA-EU 6 170126203 170126203 single base substitution T C upstream_gene_variant RECA-EU 6 170127709 170127709 single base substitution G T upstream_gene_variant SKCA-BR 6 170103001 170103001 single base substitution A C downstream_gene_variant SKCA-BR 6 170103363 170103363 single base substitution T C downstream_gene_variant SKCA-BR 6 170105838 170105838 single base substitution G A downstream_gene_variant SKCA-BR 6 170105838 170105838 single base substitution G A intron_variant SKCA-BR 6 170106429 170106429 single base substitution C T downstream_gene_variant SKCA-BR 6 170106429 170106429 single base substitution C T intron_variant SKCA-BR 6 170107429 170107429 single base substitution T A exon_variant SKCA-BR 6 170107429 170107429 single base substitution T A intron_variant SKCA-BR 6 170120631 170120631 single base substitution G A intron_variant SKCA-BR 6 170120631 170120631 single base substitution G A upstream_gene_variant SKCA-BR 6 170128751 170128751 single base substitution G A upstream_gene_variant SKCM-US 6 170110373 170110373 single base substitution G A exon_variant SKCM-US 6 170110373 170110373 single base substitution G A missense_variant P356S 1066C>T SKCM-US 6 170110373 170110373 single base substitution G A missense_variant P358S 1072C>T SKCM-US 6 170110429 170110429 single base substitution G A exon_variant SKCM-US 6 170110429 170110429 single base substitution G A missense_variant S337F 1010C>T SKCM-US 6 170110429 170110429 single base substitution G A missense_variant S339F 1016C>T SKCM-US 6 170112562 170112562 single base substitution G A exon_variant SKCM-US 6 170112562 170112562 single base substitution G A missense_variant P291S 871C>T SKCM-US 6 170112562 170112562 single base substitution G A missense_variant P293S 877C>T STAD-US 6 170102881 170102881 single base substitution A G downstream_gene_variant STAD-US 6 170104148 170104148 deletion of <=200bp G - downstream_gene_variant STAD-US 6 170104148 170104148 deletion of <=200bp G - frameshift_variant P481 STAD-US 6 170104148 170104148 deletion of <=200bp G - frameshift_variant P483 STAD-US 6 170105268 170105268 deletion of <=200bp A - downstream_gene_variant STAD-US 6 170105268 170105268 deletion of <=200bp A - frameshift_variant Y456 STAD-US 6 170105268 170105268 deletion of <=200bp A - frameshift_variant Y458 STAD-US 6 170117976 170117977 deletion of <=200bp TG - exon_variant STAD-US 6 170117976 170117977 deletion of <=200bp TG - frameshift_variant HK115 STAD-US 6 170117976 170117977 deletion of <=200bp TG - frameshift_variant HK117 STAD-US 6 170118937 170118937 single base substitution T C exon_variant STAD-US 6 170118937 170118937 single base substitution T C missense_variant Q91R 272A>G UCEC-US 6 170102682 170102682 single base substitution C T downstream_gene_variant UCEC-US 6 170104123 170104123 single base substitution C T downstream_gene_variant UCEC-US 6 170104123 170104123 single base substitution C T synonymous_variant R489R 1467G>A UCEC-US 6 170104123 170104123 single base substitution C T synonymous_variant R491R 1473G>A UCEC-US 6 170110429 170110429 single base substitution G T exon_variant UCEC-US 6 170110429 170110429 single base substitution G T missense_variant S337Y 1010C>A UCEC-US 6 170110429 170110429 single base substitution G T missense_variant S339Y 1016C>A UCEC-US 6 170112483 170112483 single base substitution G A missense_variant S317L 950C>T UCEC-US 6 170112483 170112483 single base substitution G A missense_variant S319L 956C>T UCEC-US 6 170112483 170112483 single base substitution G A splice_region_variant UCEC-US 6 170112516 170112516 single base substitution C T exon_variant UCEC-US 6 170112516 170112516 single base substitution C T missense_variant R306Q 917G>A UCEC-US 6 170112516 170112516 single base substitution C T missense_variant R308Q 923G>A UCEC-US 6 170118909 170118909 single base substitution C T exon_variant UCEC-US 6 170118909 170118909 single base substitution C T synonymous_variant V100V 300G>A UCEC-US 6 170118935 170118935 single base substitution C A exon_variant UCEC-US 6 170118935 170118935 single base substitution C A stop_gained E92* 274G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PT41 COSM5924400 c.273G>T p.E91D Substitution - Missense 6:169715961-169715961 - TCGA-66-2766-01 COSM741077 c.1383T>C p.F461F Substitution - coding silent 6:169705161-169705161 - CHC898T COSM5348027 c.556delC p.L186fs*6 Deletion - Frameshift 6:169712523-169712523 - PDA_089 COSM5002952 c.899A>T p.D300V Substitution - Missense 6:169712444-169712444 - SNU-175 COSM2855524 c.389G>A p.R130H Substitution - Missense 6:169715748-169715748 - TCGA-G9-6377-01 COSM3674615 c.769C>G p.L257V Substitution - Missense 6:169714767-169714767 - CHC898T COSM5348026 c.820delC p.L274fs*6 Deletion - Frameshift 6:169712523-169712523 - 587376 COSM1220328 c.1479A>C p.K493N Substitution - Missense 6:169704021-169704021 - TCGA-06-0221 COSM2157800 c.1050_1051insC p.A351fs*37 Insertion - Frameshift 6:169710298-169710299 - LS174T COSM2855522 c.414T>C p.F138F Substitution - coding silent 6:169715723-169715723 - SW948 COSM2855511 c.888C>T p.D296D Substitution - coding silent 6:169712455-169712455 - HCC152T COSM3662297 c.760G>T p.G254* Substitution - Nonsense 6:169710325-169710325 - TCGA-06-0152 COSM2157800 c.1050_1051insC p.A351fs*37 Insertion - Frameshift 6:169710298-169710299 - LS180 COSM2855522 c.414T>C p.F138F Substitution - coding silent 6:169715723-169715723 - TCGA-CA-6718-01 COSM1442325 c.509G>A p.R170H Substitution - Missense 6:169715989-169715989 - TCGA-B5-A0JY-01 COSM1076165 c.274G>T p.E92* Substitution - Nonsense 6:169718839-169718839 - HCC152 COSM3662297 c.760G>T p.G254* Substitution - Nonsense 6:169710325-169710325 - CHC051T COSM3666644 c.353_354insA p.A119fs*5 Insertion - Frameshift 6:169715783-169715784 - CSCC-37-T COSM4533129 c.194G>A p.G65D Substitution - Missense 6:169721005-169721005 - TCGA-MI-A75H-01 COSM4918406 c.486C>A p.V162V Substitution - coding silent 6:169714786-169714786 - CSCC-16-T COSM1442319 c.1448delC p.P483fs*>16 Deletion - Frameshift 6:169704052-169704052 - PR-05-839 COSM242597 c.467C>T p.P156L Substitution - Missense 6:169714805-169714805 - TWH COSM1582670 c.560G>A p.R187Q Substitution - Missense 6:169712519-169712519 - T2269 COSM4713913 c.736G>T p.E246* Substitution - Nonsense 6:169714800-169714800 - 587376 COSM1220330 c.839A>G p.N280S Substitution - Missense 6:169712504-169712504 - TCGA-21-1071-01 COSM741073 c.732A>C p.P244P Substitution - coding silent 6:169714804-169714804 - 585276 COSM326135 c.254G>T p.G85V Substitution - Missense 6:169718859-169718859 - HCC03T COSM131511 c.475C>T p.R159* Substitution - Nonsense 6:169714797-169714797 - TCGA-F5-6814-01 COSM3430348 c.797G>T p.R266I Substitution - Missense 6:169710288-169710288 - LB831-BLC COSM25195 c.107G>C p.R36T Substitution - Missense 6:169717861-169717861 - TCGA-CA-6718-01 COSM1442326 c.245G>A p.R82H Substitution - Missense 6:169715989-169715989 - RK308_C01 COSM3745063 c.539+2T>C p.? Unknown 6:169714731-169714731 - YUOMEGA COSM5404835 c.658C>T p.R220* Substitution - Nonsense 6:169712421-169712421 - HT115 COSM2855529 c.560A>C p.N187T Substitution - Missense 6:169715841-169715841 - ESCC_33 COSM5628343 c.966T>C p.P322P Substitution - coding silent 6:169705314-169705314 - ESCC-190T COSM3941646 c.972C>A p.C324* Substitution - Nonsense 6:169705308-169705308 - TCGA-D5-6927-01 COSM1442329 c.372A>G p.R124R Substitution - coding silent 6:169717860-169717860 - LUAD_E00522 COSM353424 c.7C>A p.Q3K Substitution - Missense 6:169718842-169718842 - Pat_26_B COSM5869789 c.385G>A p.E129K Substitution - Missense 6:169715752-169715752 - BN23T COSM1621216 c.347_356del10 p.A116fs*8 Deletion - Frameshift 6:169715781-169715790 - TCGA-22-4595-01 COSM741072 c.595T>G p.Y199D Substitution - Missense 6:169715806-169715806 - 019T COSM1727958 c.275A>G p.Y92C Substitution - Missense 6:169715959-169715959 - TCGA-DD-A1EA-01 COSM4920173 c.1078A>G p.M360V Substitution - Missense 6:169705202-169705202 - TCGA-D3-A2JO-06 COSM3622981 c.1072C>T p.P358S Substitution - Missense 6:169710277-169710277 - MO_1012 COSM5357081 c.62-5delT p.? Unknown 6:169717911-169717911 - CHC051T COSM5348712 c.354_355insT p.A119fs*5 Insertion - Frameshift 6:169715782-169715783 - TCGA-AX-A063-01 COSM1076151 c.1473G>A p.R491R Substitution - coding silent 6:169704027-169704027 - CHC051T COSM217375 c.353_354insT p.K118fs*6 Insertion - Frameshift 6:169715783-169715784 - T3021 COSM4713911 c.959A>G p.D320G Substitution - Missense 6:169710390-169710390 - PT46 COSM5928841 c.368A>T p.N123I Substitution - Missense 6:169715769-169715769 - TCGA-EE-A3JI-06 COSM3921097 c.752C>T p.S251F Substitution - Missense 6:169710333-169710333 - TCGA-85-6560-01 COSM741075 c.834A>T p.P278P Substitution - coding silent 6:169712509-169712509 - PDA_089 COSM5002953 c.635A>T p.D212V Substitution - Missense 6:169712444-169712444 - TCGA-BS-A0UF-01 COSM1076156 c.692C>T p.S231L Substitution - Missense 6:169712387-169712387 - Gp5D COSM2855536 c.273G>A p.E91E Substitution - coding silent 6:169715961-169715961 - SNU-175 COSM2855523 c.653G>A p.R218H Substitution - Missense 6:169715748-169715748 - TCGA-AZ-6598-01 COSM1442320 c.1184delC p.P395fs*>16 Deletion - Frameshift 6:169704052-169704052 - ZZUFHECRKL-G047T COSM5433935 c.257C>T p.T86I Substitution - Missense 6:169715977-169715977 - TCGA-AP-A0LF-01 COSM1076162 c.548C>A p.P183Q Substitution - Missense 6:169712531-169712531 - ZZUFHECRKL-G047T COSM5433934 c.521C>T p.T174I Substitution - Missense 6:169715977-169715977 - TARGET-30-PANLET COSM1287106 c.178G>C p.D60H Substitution - Missense 6:169716056-169716056 - 9 COSM5732506 c.526G>T p.E176* Substitution - Nonsense 6:169714746-169714746 - TCGA-MI-A75E-01 COSM4939716 c.511C>T p.Q171* Substitution - Nonsense 6:169715987-169715987 - TCGA-GN-A26C-01 COSM3622984 c.613C>T p.P205S Substitution - Missense 6:169712466-169712466 - 587376 COSM1220329 c.1215A>C p.K405N Substitution - Missense 6:169704021-169704021 - TCGA-B5-A0JY-01 COSM1076157 c.923G>A p.R308Q Substitution - Missense 6:169712420-169712420 - TCGA-FG-6690-01 COSM3928239 c.563A>G p.Y188C Substitution - Missense 6:169712516-169712516 - TCGA-EI-6507-01 COSM3414595 c.1412-6_1412-5insT p.? Unknown 6:169704093-169704094 - TCGA-06-0152 COSM2157801 c.786_787insC p.A263fs*37 Insertion - Frameshift 6:169710298-169710299 - TCGA-AZ-4315-01 COSM1442328 c.161G>A p.R54H Substitution - Missense 6:169716073-169716073 - Pat_41_B COSM4338163 c.1184_1185insC p.T396fs*>16 Insertion - Frameshift 6:169704051-169704052 - CHC051T COSM5348711 c.618_619insT p.A207fs*5 Insertion - Frameshift 6:169715782-169715783 - 587376 COSM1220331 c.575A>G p.N192S Substitution - Missense 6:169712504-169712504 - HCC152T COSM3662296 c.1024G>T p.G342* Substitution - Nonsense 6:169710325-169710325 - Pat_26_B COSM5869788 c.649G>A p.E217K Substitution - Missense 6:169715752-169715752 - TCGA-CM-4750-01 COSM3697682 c.190C>A p.L64I Substitution - Missense 6:169721009-169721009 - Pat_26_A COSM5869788 c.649G>A p.E217K Substitution - Missense 6:169715752-169715752 - 1N03-VS-1T03 COSM4972673 c.371G>C p.S124T Substitution - Missense 6:169715766-169715766 - TCGA-DD-A1EA-01 COSM4920172 c.1342A>G p.M448V Substitution - Missense 6:169705202-169705202 - DN15001 COSM5962042 c.31C>T p.L11L Substitution - coding silent 6:169723901-169723901 - HCC003T COSM5819517 c.305C>T p.S102F Substitution - Missense 6:169718808-169718808 - 019T COSM1727957 c.539A>G p.Y180C Substitution - Missense 6:169715959-169715959 - Pat_41_B COSM4338162 c.1448_1449insC p.T484fs*>16 Insertion - Frameshift 6:169704051-169704052 - 1N03-VS-1T03 COSM4972672 c.635G>C p.S212T Substitution - Missense 6:169715766-169715766 - TCGA-EI-6507-01 COSM3414596 c.1148-6_1148-5insT p.? Unknown 6:169704093-169704094 - 8057490 COSM4387994 c.505G>T p.E169* Substitution - Nonsense 6:169715993-169715993 - TCGA-F5-6814-01 COSM3430347 c.1061G>T p.R354I Substitution - Missense 6:169710288-169710288 - HCC067T COSM5824110 c.539+1G>A p.? Unknown 6:169714732-169714732 - CHC051T COSM217375 c.353_354insT p.K118fs*6 Insertion - Frameshift 6:169715783-169715784 - 587376 COSM1220333 c.71G>A p.R24Q Substitution - Missense 6:169717897-169717897 - TCGA-85-6560-01 COSM741076 c.570A>T p.P190P Substitution - coding silent 6:169712509-169712509 - YUOMEGA COSM5404834 c.922C>T p.R308* Substitution - Nonsense 6:169712421-169712421 - ESCC-190T COSM3941645 c.1236C>A p.C412* Substitution - Nonsense 6:169705308-169705308 - TCGA-G9-6377-01 COSM3674616 c.505C>G p.L169V Substitution - Missense 6:169714767-169714767 - HCC003T COSM5819518 c.41C>T p.S14F Substitution - Missense 6:169718808-169718808 - I2L-P7-Tumor-Organoid COSM5357081 c.62-5delT p.? Unknown 6:169717911-169717911 - HCC067T COSM5824109 c.803+1G>A p.? Unknown 6:169714732-169714732 - 587222 COSM1220327 c.815G>A p.R272H Substitution - Missense 6:169710270-169710270 - T2269 COSM4713914 c.472G>T p.E158* Substitution - Nonsense 6:169714800-169714800 - TCGA-AZ-4315-01 COSM1442327 c.425G>A p.R142H Substitution - Missense 6:169716073-169716073 - 8057490 COSM4387995 c.241G>T p.E81* Substitution - Nonsense 6:169715993-169715993 - 266T COSM1727166 c.1048G>C p.A350P Substitution - Missense 6:169710301-169710301 - T3498 COSM2855524 c.389G>A p.R130H Substitution - Missense 6:169715748-169715748 - CSCC-42-T COSM4555614 c.661G>A p.E221K Substitution - Missense 6:169715740-169715740 - BD6T COSM4939716 c.511C>T p.Q171* Substitution - Nonsense 6:169715987-169715987 - I2L-P7-Tumor-Organoid COSM5357080 c.326-5delT p.? Unknown 6:169717911-169717911 - TCGA-GN-A26C-01 COSM3622983 c.877C>T p.P293S Substitution - Missense 6:169712466-169712466 - LS174T COSM2855521 c.678T>C p.F226F Substitution - coding silent 6:169715723-169715723 - TCGA-BS-A0UJ-01 COSM1076154 c.752C>A p.S251Y Substitution - Missense 6:169710333-169710333 - SNU-175 COSM1442328 c.161G>A p.R54H Substitution - Missense 6:169716073-169716073 - T3021 COSM4713912 c.695A>G p.D232G Substitution - Missense 6:169710390-169710390 - TCGA-B5-A0JY-01 COSM1076166 c.10G>T p.E4* Substitution - Nonsense 6:169718839-169718839 - TCGA-G3-A5SL-01 COSM4929643 c.817G>T p.E273* Substitution - Nonsense 6:169712526-169712526 - TCGA-D3-A2JO-06 COSM3622982 c.808C>T p.P270S Substitution - Missense 6:169710277-169710277 - CSCC-16-T COSM1442320 c.1184delC p.P395fs*>16 Deletion - Frameshift 6:169704052-169704052 - TCGA-ED-A7PZ-01 COSM4916998 c.903A>T p.S301S Substitution - coding silent 6:169712440-169712440 - 266T COSM1727167 c.784G>C p.A262P Substitution - Missense 6:169710301-169710301 - TCGA-BS-A0UF-01 COSM1076155 c.956C>T p.S319L Substitution - Missense 6:169712387-169712387 - TCGA-B5-A0JY-01 COSM1076158 c.659G>A p.R220Q Substitution - Missense 6:169712420-169712420 - BD6T COSM4939717 c.247C>T p.Q83* Substitution - Nonsense 6:169715987-169715987 - TCGA-BR-4292-01 COSM3860527 c.272A>G p.Q91R Substitution - Missense 6:169718841-169718841 - TCGA-G3-A5SL-01 COSM4929644 c.553G>T p.E185* Substitution - Nonsense 6:169712526-169712526 - TCGA-06-0221 COSM2157801 c.786_787insC p.A263fs*37 Insertion - Frameshift 6:169710298-169710299 - 587376 COSM1220334 c.194+1G>A p.? Unknown 6:169721004-169721004 - TCGA-ED-A7PZ-01 COSM4916999 c.639A>T p.S213S Substitution - coding silent 6:169712440-169712440 - 587376 COSM1220332 c.335G>A p.R112Q Substitution - Missense 6:169717897-169717897 - TCGA-66-2766-01 COSM741078 c.1119T>C p.F373F Substitution - coding silent 6:169705161-169705161 - TCGA-D5-6927-01 COSM1442330 c.108A>G p.R36R Substitution - coding silent 6:169717860-169717860 - 46M COSM4555614 c.661G>A p.E221K Substitution - Missense 6:169715740-169715740 - HCC152 COSM3662296 c.1024G>T p.G342* Substitution - Nonsense 6:169710325-169710325 - HT115 COSM2855530 c.296A>C p.N99T Substitution - Missense 6:169715841-169715841 - TCGA-21-1071-01 COSM741074 c.468A>C p.P156P Substitution - coding silent 6:169714804-169714804 - 587222 COSM1220326 c.1079G>A p.R360H Substitution - Missense 6:169710270-169710270 - 0008_CRUK_PC_0008_T2_DNA COSM3849694 c.212C>G p.A71G Substitution - Missense 6:169718901-169718901 - TCGA-22-4595-01 COSM246561 c.331T>G p.Y111D Substitution - Missense 6:169715806-169715806 - LS180 COSM2855521 c.678T>C p.F226F Substitution - coding silent 6:169715723-169715723 - CHC051T COSM3666643 c.617_618insA p.A207fs*5 Insertion - Frameshift 6:169715783-169715784 - TCGA-MI-A75E-01 COSM4939717 c.247C>T p.Q83* Substitution - Nonsense 6:169715987-169715987 - TCGA-FG-6690-01 COSM3928238 c.827A>G p.Y276C Substitution - Missense 6:169712516-169712516 - 466 COSM4437233 c.840C>T p.N280N Substitution - coding silent 6:169712503-169712503 - PT41 COSM5924399 c.537G>T p.E179D Substitution - Missense 6:169715961-169715961 - TCGA-BR-4292-01 COSM3860528 c.8A>G p.Q3R Substitution - Missense 6:169718841-169718841 - TCGA-BS-A0UJ-01 COSM1076153 c.1016C>A p.S339Y Substitution - Missense 6:169710333-169710333 - TCGA-MI-A75H-01 COSM4918405 c.750C>A p.V250V Substitution - coding silent 6:169714786-169714786 - TCGA-DI-A0WH-01 COSM1076160 c.648C>T p.G216G Substitution - coding silent 6:169712431-169712431 - 9 COSM5732505 c.790G>T p.E264* Substitution - Nonsense 6:169714746-169714746 - Pat_26_A COSM5869789 c.385G>A p.E129K Substitution - Missense 6:169715752-169715752 - Gp5D COSM2855535 c.537G>A p.E179E Substitution - coding silent 6:169715961-169715961 - LUAD_E00522 COSM353423 c.271C>A p.Q91K Substitution - Missense 6:169718842-169718842 - TARGET-30-PANLET COSM1287105 c.442G>C p.D148H Substitution - Missense 6:169716056-169716056 - ESCC_33 COSM5628342 c.1230T>C p.P410P Substitution - coding silent 6:169705314-169705314 - TCGA-B5-A11E-01 COSM1076163 c.300G>A p.V100V Substitution - coding silent 6:169718813-169718813 - CSCC-42-T COSM4555615 c.397G>A p.E133K Substitution - Missense 6:169715740-169715740 - TWH COSM1582669 c.824G>A p.R275Q Substitution - Missense 6:169712519-169712519 - MO_1012 COSM5357080 c.326-5delT p.? Unknown 6:169717911-169717911 - TCGA-B5-A11E-01 COSM1076164 c.36G>A p.V12V Substitution - coding silent 6:169718813-169718813 - PR-09-5702 COSM246561 c.331T>G p.Y111D Substitution - Missense 6:169715806-169715806 - RK308_C01 COSM3745062 c.803+2T>C p.? Unknown 6:169714731-169714731 - 466 COSM4437234 c.576C>T p.N192N Substitution - coding silent 6:169712503-169712503 - 0008_CRUK_PC_0008_T1_DNA COSM3849694 c.212C>G p.A71G Substitution - Missense 6:169718901-169718901 - BN23T COSM1621215 c.611_620del10 p.A204fs*8 Deletion - Frameshift 6:169715781-169715790 - TCGA-AX-A063-01 COSM1076152 c.1209G>A p.R403R Substitution - coding silent 6:169704027-169704027 - PT46 COSM5928840 c.632A>T p.N211I Substitution - Missense 6:169715769-169715769 - T3498 COSM2855523 c.653G>A p.R218H Substitution - Missense 6:169715748-169715748 - SNU-175 COSM1442327 c.425G>A p.R142H Substitution - Missense 6:169716073-169716073 - 46M COSM4555615 c.397G>A p.E133K Substitution - Missense 6:169715740-169715740 - TCGA-EE-A3JI-06 COSM3921096 c.1016C>T p.S339F Substitution - Missense 6:169710333-169710333 - SW948 COSM2855512 c.624C>T p.D208D Substitution - coding silent 6:169712455-169712455 - TCGA-AZ-6598-01 COSM1442319 c.1448delC p.P483fs*>16 Deletion - Frameshift 6:169704052-169704052 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.435857;Hs.435933 6q27|Xq28 613069

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.Y199D c.595T>G 6 170115902 LUSC A G Missense p.M449T c.1346T>C 6 170105294 STAD C A Missense p.G85V c.254G>T 6 170118955 SCLC CC TT SpliceDonorBlockSubstitution . c.1113_1113+1delinsAA 6 170110331 CM C G Missense p.D148H c.442G>C 6 170116152 NB C T Missense p.E305K c.913G>A 6 170112526 HNSC C T Missense p.M89I c.267G>A 6 170118942 CM G A Missense p.P293S c.877C>T 6 170112562 CM G A Missense p.P358S c.1072C>T 6 170110373 CM G A Missense p.S339F c.1016C>T 6 170110429 CM G A Synonymous p.L292L c.876C>T 6 170112563 CM G C IntronicSNV . c.194+175C>G 6 170120926 CLL G C Missense p.L257V c.769C>G 6 170114863 PRAD T A Synonymous p.P278P c.834A>T 6 170112605 LUSC T C Missense p.Q91R c.272A>G 6 170118937 STAD T C Missense p.Y276C c.827A>G 6 170112612 LGG - T Frameshift p.K206Ifs*6 c.616_617insT 6 170115880 HC T G Synonymous p.P244P c.732A>C 6 170114900 LUSC T - IntronicDeletion . c.1113+913delT 6 170109422 HC