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 20 1424401 1424401 + Nonsense_Mutation SNP A A C TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 g.chr20:1424401A>C c.1106T>G c.(1105-1107)tTa>tGa p.L369* BLCA 20 1424528 1424528 + Missense_Mutation SNP C C A TCGA-E7-A5KE-01A-11D-A289-08 TCGA-E7-A5KE-10A-01D-A289-08 g.chr20:1424528C>A c.979G>T c.(979-981)Gat>Tat p.D327Y BLCA 20 1426394 1426394 + Silent SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr20:1426394G>A c.867C>T c.(865-867)atC>atT p.I289I BLCA 20 1433180 1433180 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 g.chr20:1433180C>T c.743G>A c.(742-744)gGa>gAa p.G248E BLCA 20 1433191 1433191 + Silent SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr20:1433191C>A c.732G>T c.(730-732)gtG>gtT p.V244V BLCA 20 1433742 1433742 + Missense_Mutation SNP T T C TCGA-E7-A7DV-01A-11D-A339-08 TCGA-E7-A7DV-10A-01D-A339-08 g.chr20:1433742T>C c.581A>G c.(580-582)gAt>gGt p.D194G BLCA 20 1438861 1438861 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr20:1438861C>T c.262G>A c.(262-264)Gaa>Aaa p.E88K BLCA 20 1447415 1447415 + Nonsense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr20:1447415C>A c.55G>T c.(55-57)Gag>Tag p.E19* BRCA 20 1433679 1433679 + Missense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 g.chr20:1433679C>T c.644G>A c.(643-645)aGa>aAa p.R215K BRCA 20 1434913 1434913 + Missense_Mutation SNP G G A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 g.chr20:1434913G>A c.482C>T c.(481-483)cCa>cTa p.P161L BRCA 20 1435746 1435746 + Missense_Mutation SNP G G C TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 g.chr20:1435746G>C c.310C>G c.(310-312)Cag>Gag p.Q104E BRCA 20 1435754 1435754 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr20:1435754C>A c.302G>T c.(301-303)aGa>aTa p.R101I BRCA 20 1444998 1444998 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr20:1444998G>A c.179C>T c.(178-180)tCa>tTa p.S60L CESC 20 1434905 1434905 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr20:1434905C>T c.490G>A c.(490-492)Gag>Aag p.E164K CESC 20 1434911 1434911 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr20:1434911C>T c.484G>A c.(484-486)Gag>Aag p.E162K CHOL 20 1445015 1445015 + Silent SNP C C T TCGA-WD-A7RX-01A-12D-A417-09 TCGA-WD-A7RX-10A-01D-A41A-09 g.chr20:1445015C>T c.162G>A c.(160-162)tcG>tcA p.S54S COAD 20 1424438 1424438 + Nonsense_Mutation SNP C C A TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr20:1424438C>A c.1069G>T c.(1069-1071)Gaa>Taa p.E357* COAD 20 1426320 1426320 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr20:1426320T>C c.941A>G c.(940-942)cAc>cGc p.H314R COAD 20 1426360 1426360 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr20:1426360G>A c.901C>T c.(901-903)Cgg>Tgg p.R301W COAD 20 1426391 1426391 + Silent SNP G G A TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr20:1426391G>A c.870C>T c.(868-870)gaC>gaT p.D290D COAD 20 1426393 1426393 + Missense_Mutation SNP C C T TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr20:1426393C>T c.868G>A c.(868-870)Gac>Aac p.D290N COAD 20 1433174 1433174 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:1433174A>C c.749T>G c.(748-750)tTc>tGc p.F250C COAD 20 1433207 1433207 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr20:1433207C>T c.716G>A c.(715-717)cGg>cAg p.R239Q COAD 20 1445016 1445016 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr20:1445016G>A c.161C>T c.(160-162)tCg>tTg p.S54L COAD 20 1445016 1445016 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr20:1445016G>A c.161C>T c.(160-162)tCg>tTg p.S54L COAD 20 1445031 1445031 + Missense_Mutation SNP T T A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr20:1445031T>A c.146A>T c.(145-147)gAc>gTc p.D49V COAD 20 1445061 1445061 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr20:1445061G>A c.116C>T c.(115-117)gCg>gTg p.A39V COAD 20 1445068 1445068 + Missense_Mutation SNP C C T TCGA-AA-3527-01A-01W-0831-10 TCGA-AA-3527-10A-01W-0831-10 g.chr20:1445068C>T c.109G>A c.(109-111)Gcg>Acg p.A37T COADREAD 20 1424438 1424438 + Nonsense_Mutation SNP C C A TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr20:1424438C>A c.1069G>T c.(1069-1071)Gaa>Taa p.E357* COADREAD 20 1426320 1426320 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr20:1426320T>C c.941A>G c.(940-942)cAc>cGc p.H314R COADREAD 20 1426360 1426360 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr20:1426360G>A c.901C>T c.(901-903)Cgg>Tgg p.R301W COADREAD 20 1426391 1426391 + Silent SNP G G A TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr20:1426391G>A c.870C>T c.(868-870)gaC>gaT p.D290D COADREAD 20 1426393 1426393 + Missense_Mutation SNP C C T TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr20:1426393C>T c.868G>A c.(868-870)Gac>Aac p.D290N COADREAD 20 1433174 1433174 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:1433174A>C c.749T>G c.(748-750)tTc>tGc p.F250C COADREAD 20 1433207 1433207 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr20:1433207C>T c.716G>A c.(715-717)cGg>cAg p.R239Q COADREAD 20 1445016 1445016 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr20:1445016G>A c.161C>T c.(160-162)tCg>tTg p.S54L COADREAD 20 1445016 1445016 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr20:1445016G>A c.161C>T c.(160-162)tCg>tTg p.S54L COADREAD 20 1445031 1445031 + Missense_Mutation SNP T T A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr20:1445031T>A c.146A>T c.(145-147)gAc>gTc p.D49V COADREAD 20 1445061 1445061 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr20:1445061G>A c.116C>T c.(115-117)gCg>gTg p.A39V COADREAD 20 1445068 1445068 + Missense_Mutation SNP C C T TCGA-AA-3527-01A-01W-0831-10 TCGA-AA-3527-10A-01W-0831-10 g.chr20:1445068C>T c.109G>A c.(109-111)Gcg>Acg p.A37T DLBC 20 1433171 1433171 + Missense_Mutation SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr20:1433171T>C c.752A>G c.(751-753)aAa>aGa p.K251R GBM 20 1424444 1424444 + Silent SNP G G A TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 g.chr20:1424444G>A c.1063C>T c.(1063-1065)Ctg>Ttg p.L355L GBMLGG 20 1424444 1424444 + Silent SNP G G A TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 g.chr20:1424444G>A c.1063C>T c.(1063-1065)Ctg>Ttg p.L355L GBMLGG 20 1426390 1426390 + Missense_Mutation SNP C C T TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 g.chr20:1426390C>T c.871G>A c.(871-873)Gaa>Aaa p.E291K GBMLGG 20 1433682 1433682 + Missense_Mutation SNP C C T TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 g.chr20:1433682C>T c.641G>A c.(640-642)cGc>cAc p.R214H GBMLGG 20 1445045 1445045 + Silent SNP G G A TCGA-HT-7469-01A-11D-2253-08 TCGA-HT-7469-10B-01D-2253-08 g.chr20:1445045G>A c.132C>T c.(130-132)gaC>gaT p.D44D HNSC 20 1424429 1424429 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr20:1424429G>A c.1078C>T c.(1078-1080)Ctg>Ttg p.L360L HNSC 20 1424538 1424538 + Silent SNP G G A TCGA-T2-A6X2-01A-12D-A34J-08 TCGA-T2-A6X2-10B-01D-A34M-08 g.chr20:1424538G>A c.969C>T c.(967-969)ctC>ctT p.L323L HNSC 20 1426360 1426360 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr20:1426360G>A c.901C>T c.(901-903)Cgg>Tgg p.R301W HNSC 20 1433208 1433208 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 g.chr20:1433208G>A c.715C>T c.(715-717)Cgg>Tgg p.R239W HNSC 20 1438876 1438876 + Missense_Mutation SNP C C G TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr20:1438876C>G c.247G>C c.(247-249)Gat>Cat p.D83H KIPAN 20 1433207 1433207 + Missense_Mutation SNP C C A TCGA-G7-6797-01A-11D-1961-08 TCGA-G7-6797-10A-01D-1962-08 g.chr20:1433207C>A c.716G>T c.(715-717)cGg>cTg p.R239L KIRP 20 1433207 1433207 + Missense_Mutation SNP C C A TCGA-G7-6797-01A-11D-1961-08 TCGA-G7-6797-10A-01D-1962-08 g.chr20:1433207C>A c.716G>T c.(715-717)cGg>cTg p.R239L LGG 20 1426390 1426390 + Missense_Mutation SNP C C T TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 g.chr20:1426390C>T c.871G>A c.(871-873)Gaa>Aaa p.E291K LGG 20 1433682 1433682 + Missense_Mutation SNP C C T TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 g.chr20:1433682C>T c.641G>A c.(640-642)cGc>cAc p.R214H LGG 20 1445045 1445045 + Silent SNP G G A TCGA-HT-7469-01A-11D-2253-08 TCGA-HT-7469-10B-01D-2253-08 g.chr20:1445045G>A c.132C>T c.(130-132)gaC>gaT p.D44D LIHC 20 1434946 1434946 + Missense_Mutation SNP A A G TCGA-BC-A3KF-01A-11D-A20W-10 TCGA-BC-A3KF-10A-01D-A20W-10 g.chr20:1434946A>G c.449T>C c.(448-450)tTt>tCt p.F150S LIHC 20 1447368 1447368 + Silent SNP C C T TCGA-CC-A9FW-01A-11D-A36X-10 TCGA-CC-A9FW-10A-01D-A370-10 g.chr20:1447368C>T c.102G>A c.(100-102)ttG>ttA p.L34L LUAD 20 1426310 1426310 + Splice_Site SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr20:1426310C>A c.e8+1 LUAD 20 1435763 1435763 + Frame_Shift_Del DEL C C - TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 g.chr20:1435763delC c.293delG c.(292-294)ggcfs p.G98fs LUSC 20 1435635 1435635 + Missense_Mutation SNP G G C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 g.chr20:1435635G>C c.421C>G c.(421-423)Cct>Gct p.P141A PAAD 20 1426401 1426401 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:1426401A>G c.860T>C c.(859-861)aTc>aCc p.I287T PAAD 20 1433256 1433256 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:1433256G>A c.667C>T c.(667-669)Cgg>Tgg p.R223W PAAD 20 1438856 1438856 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:1438856C>T c.267G>A c.(265-267)gaG>gaA p.E89E PRAD 20 1426346 1426346 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr20:1426346G>A c.915C>T c.(913-915)ggC>ggT p.G305G PRAD 20 1433675 1433675 + Splice_Site SNP C C T TCGA-CH-5789-01A-11D-1576-08 TCGA-CH-5789-10A-01D-1576-08 g.chr20:1433675C>T c.e6+1 PRAD 20 1445045 1445045 + Silent SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr20:1445045G>A c.132C>T c.(130-132)gaC>gaT p.D44D SKCM 20 1424412 1424412 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 g.chr20:1424412G>A c.1095C>T c.(1093-1095)atC>atT p.I365I SKCM 20 1447388 1447388 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr20:1447388C>T c.82G>A c.(82-84)Gag>Aag p.E28K SKCM 20 1447409 1447409 + Missense_Mutation SNP C C T TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr20:1447409C>T c.61G>A c.(61-63)Gac>Aac p.D21N SKCM 20 1447410 1447410 + Silent SNP C C T TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr20:1447410C>T c.60G>A c.(58-60)gaG>gaA p.E20E

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 20 1426335 1426335 single base substitution A C 3_prime_UTR_variant BLCA-CN 20 1426335 1426335 single base substitution A C exon_variant BLCA-CN 20 1426335 1426335 single base substitution A C missense_variant V198G 593T>G BLCA-CN 20 1426335 1426335 single base substitution A C missense_variant V278G 833T>G BLCA-CN 20 1426335 1426335 single base substitution A C missense_variant V309G 926T>G BLCA-CN 20 1426335 1426335 single base substitution A C missense_variant V311G 932T>G BLCA-CN 20 1456877 1456877 single base substitution C T upstream_gene_variant BLCA-US 20 1433180 1433180 single base substitution C T 3_prime_UTR_variant BLCA-US 20 1433180 1433180 single base substitution C T downstream_gene_variant BLCA-US 20 1433180 1433180 single base substitution C T exon_variant BLCA-US 20 1433180 1433180 single base substitution C T missense_variant G137E 410G>A BLCA-US 20 1433180 1433180 single base substitution C T missense_variant G217E 650G>A BLCA-US 20 1433180 1433180 single base substitution C T missense_variant G248E 743G>A BLCA-US 20 1433180 1433180 single base substitution C T missense_variant G250E 749G>A BLCA-US 20 1433191 1433191 single base substitution C A 3_prime_UTR_variant BLCA-US 20 1433191 1433191 single base substitution C A downstream_gene_variant BLCA-US 20 1433191 1433191 single base substitution C A exon_variant BLCA-US 20 1433191 1433191 single base substitution C A synonymous_variant V133V 399G>T BLCA-US 20 1433191 1433191 single base substitution C A synonymous_variant V213V 639G>T BLCA-US 20 1433191 1433191 single base substitution C A synonymous_variant V244V 732G>T BLCA-US 20 1433191 1433191 single base substitution C A synonymous_variant V246V 738G>T BLCA-US 20 1447415 1447415 single base substitution C A 5_prime_UTR_variant BLCA-US 20 1447415 1447415 single base substitution C A exon_variant BLCA-US 20 1447415 1447415 single base substitution C A intron_variant BLCA-US 20 1447415 1447415 single base substitution C A stop_gained E19* 55G>T BLCA-US 20 1456880 1456880 single base substitution C T upstream_gene_variant BLCA-US 20 1458977 1458977 single base substitution C T upstream_gene_variant BLCA-US 20 1459226 1459226 single base substitution A C upstream_gene_variant BRCA-EU 20 1417867 1417867 single base substitution G A downstream_gene_variant BRCA-EU 20 1418473 1418473 single base substitution G A downstream_gene_variant BRCA-EU 20 1418532 1418532 single base substitution A T downstream_gene_variant BRCA-EU 20 1420024 1420024 single base substitution A C downstream_gene_variant BRCA-EU 20 1420867 1420867 single base substitution G A downstream_gene_variant BRCA-EU 20 1421520 1421520 single base substitution C T downstream_gene_variant BRCA-EU 20 1426461 1426461 single base substitution A G 3_prime_UTR_variant BRCA-EU 20 1426461 1426461 single base substitution A G exon_variant BRCA-EU 20 1426461 1426461 single base substitution A G missense_variant V156A 467T>C BRCA-EU 20 1426461 1426461 single base substitution A G missense_variant V236A 707T>C BRCA-EU 20 1426461 1426461 single base substitution A G missense_variant V267A 800T>C BRCA-EU 20 1426461 1426461 single base substitution A G missense_variant V269A 806T>C BRCA-EU 20 1426716 1426716 single base substitution T C 3_prime_UTR_variant BRCA-EU 20 1426716 1426716 single base substitution T C intron_variant BRCA-EU 20 1427868 1427868 single base substitution T C intron_variant BRCA-EU 20 1427965 1427965 single base substitution G A intron_variant BRCA-EU 20 1429783 1429783 single base substitution C T downstream_gene_variant BRCA-EU 20 1429783 1429783 single base substitution C T intron_variant BRCA-EU 20 1431174 1431174 single base substitution T C downstream_gene_variant BRCA-EU 20 1431174 1431174 single base substitution T C intron_variant BRCA-EU 20 1433993 1433993 single base substitution A C downstream_gene_variant BRCA-EU 20 1433993 1433993 single base substitution A C intron_variant BRCA-EU 20 1434618 1434618 single base substitution A G downstream_gene_variant BRCA-EU 20 1434618 1434618 single base substitution A G intron_variant BRCA-EU 20 1435367 1435367 single base substitution T G downstream_gene_variant BRCA-EU 20 1435367 1435367 single base substitution T G intron_variant BRCA-EU 20 1435569 1435569 single base substitution G A downstream_gene_variant BRCA-EU 20 1435569 1435569 single base substitution G A intron_variant BRCA-EU 20 1436372 1436372 single base substitution C G 3_prime_UTR_variant BRCA-EU 20 1436372 1436372 single base substitution C G downstream_gene_variant BRCA-EU 20 1436372 1436372 single base substitution C G exon_variant BRCA-EU 20 1436372 1436372 single base substitution C G intron_variant BRCA-EU 20 1436372 1436372 single base substitution C G splice_region_variant BRCA-EU 20 1436598 1436598 single base substitution C T downstream_gene_variant BRCA-EU 20 1436598 1436598 single base substitution C T exon_variant BRCA-EU 20 1436598 1436598 single base substitution C T intron_variant BRCA-EU 20 1439160 1439160 single base substitution C A intron_variant BRCA-EU 20 1439160 1439160 single base substitution C A upstream_gene_variant BRCA-EU 20 1439161 1439161 single base substitution A T intron_variant BRCA-EU 20 1439161 1439161 single base substitution A T upstream_gene_variant BRCA-EU 20 1439216 1439216 deletion of <=200bp A - intron_variant BRCA-EU 20 1439216 1439216 deletion of <=200bp A - upstream_gene_variant BRCA-EU 20 1440684 1440684 single base substitution T A downstream_gene_variant BRCA-EU 20 1440684 1440684 single base substitution T A intron_variant BRCA-EU 20 1440684 1440684 single base substitution T A upstream_gene_variant BRCA-EU 20 1443334 1443334 deletion of <=200bp T - downstream_gene_variant BRCA-EU 20 1443334 1443334 deletion of <=200bp T - intron_variant BRCA-EU 20 1445012 1445012 single base substitution C T exon_variant BRCA-EU 20 1445012 1445012 single base substitution C T intron_variant BRCA-EU 20 1445012 1445012 single base substitution C T synonymous_variant Q55Q 165G>A BRCA-EU 20 1446476 1446476 single base substitution C G intron_variant BRCA-EU 20 1447072 1447072 single base substitution C T intron_variant BRCA-EU 20 1447412 1447412 single base substitution C G 5_prime_UTR_variant BRCA-EU 20 1447412 1447412 single base substitution C G exon_variant BRCA-EU 20 1447412 1447412 single base substitution C G intron_variant BRCA-EU 20 1447412 1447412 single base substitution C G missense_variant E20Q 58G>C BRCA-EU 20 1447452 1447452 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 20 1447452 1447452 single base substitution C A exon_variant BRCA-EU 20 1447452 1447452 single base substitution C A intron_variant BRCA-EU 20 1447452 1447452 single base substitution C A missense_variant Q6H 18G>T BRCA-EU 20 1448080 1448080 single base substitution C T 5_prime_UTR_variant BRCA-EU 20 1448080 1448080 single base substitution C T intron_variant BRCA-EU 20 1448080 1448080 single base substitution C T upstream_gene_variant BRCA-EU 20 1449570 1449570 single base substitution C A intron_variant BRCA-EU 20 1449570 1449570 single base substitution C A upstream_gene_variant BRCA-EU 20 1451233 1451233 single base substitution T A intron_variant BRCA-EU 20 1451233 1451233 single base substitution T A upstream_gene_variant BRCA-EU 20 1451664 1451664 single base substitution C A intron_variant BRCA-EU 20 1451664 1451664 single base substitution C A upstream_gene_variant BRCA-EU 20 1451804 1451804 single base substitution G A intron_variant BRCA-EU 20 1451804 1451804 single base substitution G A upstream_gene_variant BRCA-EU 20 1451927 1451927 single base substitution C T intron_variant BRCA-EU 20 1451927 1451927 single base substitution C T upstream_gene_variant BRCA-EU 20 1451959 1451959 deletion of <=200bp A - intron_variant BRCA-EU 20 1451959 1451959 deletion of <=200bp A - upstream_gene_variant BRCA-EU 20 1452560 1452560 single base substitution C T intron_variant BRCA-EU 20 1452560 1452560 single base substitution C T upstream_gene_variant BRCA-EU 20 1452686 1452686 single base substitution T A intron_variant BRCA-EU 20 1452686 1452686 single base substitution T A upstream_gene_variant BRCA-EU 20 1452909 1452909 single base substitution T A intron_variant BRCA-EU 20 1452909 1452909 single base substitution T A upstream_gene_variant BRCA-EU 20 1453717 1453717 single base substitution G A intron_variant BRCA-EU 20 1453929 1453929 single base substitution C T intron_variant BRCA-EU 20 1454571 1454571 single base substitution C A upstream_gene_variant BRCA-EU 20 1454838 1454838 single base substitution T C upstream_gene_variant BRCA-EU 20 1455434 1455434 single base substitution G T upstream_gene_variant BRCA-EU 20 1455438 1455438 single base substitution C G upstream_gene_variant BRCA-EU 20 1456077 1456077 single base substitution A G upstream_gene_variant BRCA-EU 20 1457383 1457383 single base substitution G T upstream_gene_variant BRCA-EU 20 1458176 1458176 single base substitution C T upstream_gene_variant BRCA-EU 20 1459186 1459186 single base substitution C G upstream_gene_variant BRCA-FR 20 1418849 1418849 single base substitution T A downstream_gene_variant BRCA-FR 20 1427965 1427965 single base substitution G A intron_variant BRCA-FR 20 1431174 1431174 single base substitution T C downstream_gene_variant BRCA-FR 20 1431174 1431174 single base substitution T C intron_variant BRCA-FR 20 1433993 1433993 single base substitution A C downstream_gene_variant BRCA-FR 20 1433993 1433993 single base substitution A C intron_variant BRCA-FR 20 1447072 1447072 single base substitution C T intron_variant BRCA-FR 20 1451664 1451664 single base substitution C A intron_variant BRCA-FR 20 1451664 1451664 single base substitution C A upstream_gene_variant BRCA-FR 20 1452715 1452715 single base substitution A C intron_variant BRCA-FR 20 1452715 1452715 single base substitution A C upstream_gene_variant BRCA-FR 20 1456077 1456077 single base substitution A G upstream_gene_variant BRCA-UK 20 1435281 1435281 single base substitution C G downstream_gene_variant BRCA-UK 20 1435281 1435281 single base substitution C G intron_variant BRCA-UK 20 1436555 1436555 single base substitution C G downstream_gene_variant BRCA-UK 20 1436555 1436555 single base substitution C G exon_variant BRCA-UK 20 1436555 1436555 single base substitution C G intron_variant BRCA-UK 20 1447803 1447803 single base substitution C T 5_prime_UTR_variant BRCA-UK 20 1447803 1447803 single base substitution C T intron_variant BRCA-UK 20 1447803 1447803 single base substitution C T upstream_gene_variant BRCA-UK 20 1448109 1448109 single base substitution C G 5_prime_UTR_variant BRCA-UK 20 1448109 1448109 single base substitution C G intron_variant BRCA-UK 20 1448109 1448109 single base substitution C G upstream_gene_variant BRCA-UK 20 1449276 1449276 single base substitution C G intron_variant BRCA-UK 20 1449276 1449276 single base substitution C G upstream_gene_variant BRCA-UK 20 1449284 1449284 single base substitution C A intron_variant BRCA-UK 20 1449284 1449284 single base substitution C A upstream_gene_variant BRCA-UK 20 1449362 1449362 single base substitution C G intron_variant BRCA-UK 20 1449362 1449362 single base substitution C G upstream_gene_variant BRCA-US 20 1433679 1433679 single base substitution C T 3_prime_UTR_variant BRCA-US 20 1433679 1433679 single base substitution C T downstream_gene_variant BRCA-US 20 1433679 1433679 single base substitution C T exon_variant BRCA-US 20 1433679 1433679 single base substitution C T missense_variant R104K 311G>A BRCA-US 20 1433679 1433679 single base substitution C T missense_variant R184K 551G>A BRCA-US 20 1433679 1433679 single base substitution C T missense_variant R215K 644G>A BRCA-US 20 1433679 1433679 single base substitution C T missense_variant R217K 650G>A BRCA-US 20 1434913 1434913 single base substitution G A 3_prime_UTR_variant BRCA-US 20 1434913 1434913 single base substitution G A downstream_gene_variant BRCA-US 20 1434913 1434913 single base substitution G A exon_variant BRCA-US 20 1434913 1434913 single base substitution G A intron_variant BRCA-US 20 1434913 1434913 single base substitution G A missense_variant P161L 482C>T BRCA-US 20 1434913 1434913 single base substitution G A missense_variant P163L 488C>T BRCA-US 20 1434913 1434913 single base substitution G A missense_variant P50L 149C>T BRCA-US 20 1435746 1435746 single base substitution G C 3_prime_UTR_variant BRCA-US 20 1435746 1435746 single base substitution G C downstream_gene_variant BRCA-US 20 1435746 1435746 single base substitution G C exon_variant BRCA-US 20 1435746 1435746 single base substitution G C intron_variant BRCA-US 20 1435746 1435746 single base substitution G C missense_variant Q104E 310C>G BRCA-US 20 1435746 1435746 single base substitution G C missense_variant Q106E 316C>G BRCA-US 20 1435754 1435754 single base substitution C A 3_prime_UTR_variant BRCA-US 20 1435754 1435754 single base substitution C A downstream_gene_variant BRCA-US 20 1435754 1435754 single base substitution C A exon_variant BRCA-US 20 1435754 1435754 single base substitution C A intron_variant BRCA-US 20 1435754 1435754 single base substitution C A missense_variant R101I 302G>T BRCA-US 20 1435754 1435754 single base substitution C A missense_variant R103I 308G>T BRCA-US 20 1444998 1444998 single base substitution G A exon_variant BRCA-US 20 1444998 1444998 single base substitution G A intron_variant BRCA-US 20 1444998 1444998 single base substitution G A missense_variant S60L 179C>T BRCA-US 20 1456906 1456906 single base substitution G T upstream_gene_variant CESC-US 20 1434905 1434905 single base substitution C T 3_prime_UTR_variant CESC-US 20 1434905 1434905 single base substitution C T downstream_gene_variant CESC-US 20 1434905 1434905 single base substitution C T exon_variant CESC-US 20 1434905 1434905 single base substitution C T intron_variant CESC-US 20 1434905 1434905 single base substitution C T missense_variant E164K 490G>A CESC-US 20 1434905 1434905 single base substitution C T missense_variant E166K 496G>A CESC-US 20 1434905 1434905 single base substitution C T missense_variant E53K 157G>A CESC-US 20 1434911 1434911 single base substitution C T 3_prime_UTR_variant CESC-US 20 1434911 1434911 single base substitution C T downstream_gene_variant CESC-US 20 1434911 1434911 single base substitution C T exon_variant CESC-US 20 1434911 1434911 single base substitution C T intron_variant CESC-US 20 1434911 1434911 single base substitution C T missense_variant E162K 484G>A CESC-US 20 1434911 1434911 single base substitution C T missense_variant E164K 490G>A CESC-US 20 1434911 1434911 single base substitution C T missense_variant E51K 151G>A CLLE-ES 20 1426809 1426810 deletion of <=200bp AC - intron_variant CLLE-ES 20 1428545 1428545 single base substitution T C downstream_gene_variant CLLE-ES 20 1428545 1428545 single base substitution T C intron_variant CLLE-ES 20 1430987 1430987 insertion of <=200bp - GG downstream_gene_variant CLLE-ES 20 1430987 1430987 insertion of <=200bp - GG intron_variant CLLE-ES 20 1445300 1445300 single base substitution T G intron_variant CLLE-ES 20 1456767 1456767 single base substitution T G upstream_gene_variant COAD-US 20 1424438 1424438 single base substitution C A 3_prime_UTR_variant COAD-US 20 1424438 1424438 single base substitution C A downstream_gene_variant COAD-US 20 1424438 1424438 single base substitution C A exon_variant COAD-US 20 1424438 1424438 single base substitution C A stop_gained E246* 736G>T COAD-US 20 1424438 1424438 single base substitution C A stop_gained E326* 976G>T COAD-US 20 1424438 1424438 single base substitution C A stop_gained E357* 1069G>T COAD-US 20 1424438 1424438 single base substitution C A stop_gained E359* 1075G>T COAD-US 20 1426320 1426320 single base substitution T C 3_prime_UTR_variant COAD-US 20 1426320 1426320 single base substitution T C exon_variant COAD-US 20 1426320 1426320 single base substitution T C missense_variant H203R 608A>G COAD-US 20 1426320 1426320 single base substitution T C missense_variant H283R 848A>G COAD-US 20 1426320 1426320 single base substitution T C missense_variant H314R 941A>G COAD-US 20 1426320 1426320 single base substitution T C missense_variant H316R 947A>G COAD-US 20 1426391 1426391 single base substitution G A 3_prime_UTR_variant COAD-US 20 1426391 1426391 single base substitution G A exon_variant COAD-US 20 1426391 1426391 single base substitution G A synonymous_variant D179D 537C>T COAD-US 20 1426391 1426391 single base substitution G A synonymous_variant D259D 777C>T COAD-US 20 1426391 1426391 single base substitution G A synonymous_variant D290D 870C>T COAD-US 20 1426391 1426391 single base substitution G A synonymous_variant D292D 876C>T COAD-US 20 1445016 1445016 single base substitution G A exon_variant COAD-US 20 1445016 1445016 single base substitution G A intron_variant COAD-US 20 1445016 1445016 single base substitution G A missense_variant S54L 161C>T COAD-US 20 1445061 1445061 single base substitution G A exon_variant COAD-US 20 1445061 1445061 single base substitution G A intron_variant COAD-US 20 1445061 1445061 single base substitution G A missense_variant A39V 116C>T COAD-US 20 1458003 1458003 single base substitution G T upstream_gene_variant COCA-CN 20 1426360 1426360 single base substitution G A 3_prime_UTR_variant COCA-CN 20 1426360 1426360 single base substitution G A exon_variant COCA-CN 20 1426360 1426360 single base substitution G A missense_variant R190W 568C>T COCA-CN 20 1426360 1426360 single base substitution G A missense_variant R270W 808C>T COCA-CN 20 1426360 1426360 single base substitution G A missense_variant R301W 901C>T COCA-CN 20 1426360 1426360 single base substitution G A missense_variant R303W 907C>T COCA-CN 20 1433315 1433315 single base substitution G T downstream_gene_variant COCA-CN 20 1433315 1433315 single base substitution G T intron_variant COCA-CN 20 1445054 1445054 single base substitution A C exon_variant COCA-CN 20 1445054 1445054 single base substitution A C intron_variant COCA-CN 20 1445054 1445054 single base substitution A C missense_variant F41L 123T>G COCA-CN 20 1457929 1457929 single base substitution T C upstream_gene_variant COCA-CN 20 1458159 1458159 single base substitution A G upstream_gene_variant COCA-CN 20 1458814 1458814 single base substitution G A upstream_gene_variant COCA-CN 20 1459026 1459026 single base substitution G A upstream_gene_variant EOPC-DE 20 1424964 1424964 single base substitution C G downstream_gene_variant EOPC-DE 20 1424964 1424964 single base substitution C G intron_variant EOPC-DE 20 1434374 1434374 single base substitution T G downstream_gene_variant EOPC-DE 20 1434374 1434374 single base substitution T G intron_variant ESAD-UK 20 1421491 1421491 single base substitution G C downstream_gene_variant ESAD-UK 20 1421772 1421772 single base substitution C A downstream_gene_variant ESAD-UK 20 1423050 1423050 single base substitution T A 3_prime_UTR_variant ESAD-UK 20 1423050 1423050 single base substitution T A downstream_gene_variant ESAD-UK 20 1423050 1423050 single base substitution T A exon_variant ESAD-UK 20 1423802 1423802 single base substitution C A 3_prime_UTR_variant ESAD-UK 20 1423802 1423802 single base substitution C A downstream_gene_variant ESAD-UK 20 1423802 1423802 single base substitution C A exon_variant ESAD-UK 20 1424137 1424137 single base substitution G A 3_prime_UTR_variant ESAD-UK 20 1424137 1424137 single base substitution G A downstream_gene_variant ESAD-UK 20 1424137 1424137 single base substitution G A exon_variant ESAD-UK 20 1424823 1424823 single base substitution C T downstream_gene_variant ESAD-UK 20 1424823 1424823 single base substitution C T intron_variant ESAD-UK 20 1426771 1426771 single base substitution T A exon_variant ESAD-UK 20 1426771 1426771 single base substitution T A intron_variant ESAD-UK 20 1427794 1427794 single base substitution C A intron_variant ESAD-UK 20 1430011 1430011 single base substitution C T downstream_gene_variant ESAD-UK 20 1430011 1430011 single base substitution C T intron_variant ESAD-UK 20 1430072 1430072 insertion of <=200bp - GCCTCCTGATTT downstream_gene_variant ESAD-UK 20 1430072 1430072 insertion of <=200bp - GCCTCCTGATTT intron_variant ESAD-UK 20 1430296 1430296 single base substitution C T downstream_gene_variant ESAD-UK 20 1430296 1430296 single base substitution C T intron_variant ESAD-UK 20 1432866 1432866 single base substitution G A downstream_gene_variant ESAD-UK 20 1432866 1432866 single base substitution G A intron_variant ESAD-UK 20 1435998 1435998 single base substitution G A downstream_gene_variant ESAD-UK 20 1435998 1435998 single base substitution G A intron_variant ESAD-UK 20 1437817 1437817 single base substitution A G downstream_gene_variant ESAD-UK 20 1437817 1437817 single base substitution A G intron_variant ESAD-UK 20 1437817 1437817 single base substitution A G upstream_gene_variant ESAD-UK 20 1438844 1438844 single base substitution C T exon_variant ESAD-UK 20 1438844 1438844 single base substitution C T splice_donor_variant ESAD-UK 20 1438844 1438844 single base substitution C T upstream_gene_variant ESAD-UK 20 1439963 1439963 single base substitution T C downstream_gene_variant ESAD-UK 20 1439963 1439963 single base substitution T C intron_variant ESAD-UK 20 1439963 1439963 single base substitution T C upstream_gene_variant ESAD-UK 20 1440613 1440613 single base substitution C T downstream_gene_variant ESAD-UK 20 1440613 1440613 single base substitution C T intron_variant ESAD-UK 20 1440613 1440613 single base substitution C T upstream_gene_variant ESAD-UK 20 1443259 1443259 single base substitution C T downstream_gene_variant ESAD-UK 20 1443259 1443259 single base substitution C T intron_variant ESAD-UK 20 1452819 1452819 single base substitution C T intron_variant ESAD-UK 20 1452819 1452819 single base substitution C T upstream_gene_variant ESAD-UK 20 1453880 1453880 single base substitution C G exon_variant ESAD-UK 20 1454959 1454959 single base substitution C G upstream_gene_variant ESAD-UK 20 1454962 1454962 single base substitution C T upstream_gene_variant ESAD-UK 20 1455762 1455762 single base substitution A T upstream_gene_variant ESAD-UK 20 1458887 1458887 single base substitution C A upstream_gene_variant ESAD-UK 20 1459054 1459054 single base substitution G A upstream_gene_variant GBM-US 20 1424444 1424444 single base substitution G A 3_prime_UTR_variant GBM-US 20 1424444 1424444 single base substitution G A downstream_gene_variant GBM-US 20 1424444 1424444 single base substitution G A exon_variant GBM-US 20 1424444 1424444 single base substitution G A synonymous_variant L244L 730C>T GBM-US 20 1424444 1424444 single base substitution G A synonymous_variant L324L 970C>T GBM-US 20 1424444 1424444 single base substitution G A synonymous_variant L355L 1063C>T GBM-US 20 1424444 1424444 single base substitution G A synonymous_variant L357L 1069C>T LGG-US 20 1426390 1426390 single base substitution C T 3_prime_UTR_variant LGG-US 20 1426390 1426390 single base substitution C T exon_variant LGG-US 20 1426390 1426390 single base substitution C T missense_variant E180K 538G>A LGG-US 20 1426390 1426390 single base substitution C T missense_variant E260K 778G>A LGG-US 20 1426390 1426390 single base substitution C T missense_variant E291K 871G>A LGG-US 20 1426390 1426390 single base substitution C T missense_variant E293K 877G>A LGG-US 20 1445045 1445045 single base substitution G A exon_variant LGG-US 20 1445045 1445045 single base substitution G A intron_variant LGG-US 20 1445045 1445045 single base substitution G A synonymous_variant D44D 132C>T LICA-FR 20 1433757 1433757 single base substitution C T 3_prime_UTR_variant LICA-FR 20 1433757 1433757 single base substitution C T downstream_gene_variant LICA-FR 20 1433757 1433757 single base substitution C T exon_variant LICA-FR 20 1433757 1433757 single base substitution C T missense_variant S158N 473G>A LICA-FR 20 1433757 1433757 single base substitution C T missense_variant S189N 566G>A LICA-FR 20 1433757 1433757 single base substitution C T missense_variant S191N 572G>A LICA-FR 20 1433757 1433757 single base substitution C T missense_variant S78N 233G>A LICA-FR 20 1434719 1434719 single base substitution G A downstream_gene_variant LICA-FR 20 1434719 1434719 single base substitution G A intron_variant LICA-FR 20 1449755 1449755 single base substitution T A intron_variant LICA-FR 20 1449755 1449755 single base substitution T A upstream_gene_variant LICA-FR 20 1456917 1456917 single base substitution T A upstream_gene_variant LICA-FR 20 1458003 1458003 single base substitution G A upstream_gene_variant LICA-FR 20 1459125 1459137 deletion of <=200bp CCACCTGATGGGT - upstream_gene_variant LIHC-US 20 1433676 1433676 single base substitution C A downstream_gene_variant LIHC-US 20 1433676 1433676 single base substitution C A missense_variant G105V 314G>T LIHC-US 20 1433676 1433676 single base substitution C A missense_variant G185V 554G>T LIHC-US 20 1433676 1433676 single base substitution C A missense_variant G216V 647G>T LIHC-US 20 1433676 1433676 single base substitution C A missense_variant G218V 653G>T LIHC-US 20 1433676 1433676 single base substitution C A splice_region_variant LIHC-US 20 1434946 1434946 single base substitution A G 3_prime_UTR_variant LIHC-US 20 1434946 1434946 single base substitution A G downstream_gene_variant LIHC-US 20 1434946 1434946 single base substitution A G exon_variant LIHC-US 20 1434946 1434946 single base substitution A G intron_variant LIHC-US 20 1434946 1434946 single base substitution A G missense_variant F150S 449T>C LIHC-US 20 1434946 1434946 single base substitution A G missense_variant F152S 455T>C LIHC-US 20 1434946 1434946 single base substitution A G missense_variant F39S 116T>C LINC-JP 20 1451495 1451495 single base substitution C G intron_variant LINC-JP 20 1451495 1451495 single base substitution C G upstream_gene_variant LINC-JP 20 1459109 1459109 single base substitution G A upstream_gene_variant LIRI-JP 20 1420330 1420330 single base substitution C T downstream_gene_variant LIRI-JP 20 1423387 1423387 single base substitution C G 3_prime_UTR_variant LIRI-JP 20 1423387 1423387 single base substitution C G downstream_gene_variant LIRI-JP 20 1423387 1423387 single base substitution C G exon_variant LIRI-JP 20 1423396 1423396 single base substitution A T 3_prime_UTR_variant LIRI-JP 20 1423396 1423396 single base substitution A T downstream_gene_variant LIRI-JP 20 1423396 1423396 single base substitution A T exon_variant LIRI-JP 20 1425031 1425031 single base substitution C T downstream_gene_variant LIRI-JP 20 1425031 1425031 single base substitution C T intron_variant LIRI-JP 20 1425387 1425387 single base substitution A T downstream_gene_variant LIRI-JP 20 1425387 1425387 single base substitution A T intron_variant LIRI-JP 20 1426833 1426833 single base substitution T C intron_variant LIRI-JP 20 1427754 1427754 single base substitution A T intron_variant LIRI-JP 20 1427896 1427896 single base substitution A G intron_variant LIRI-JP 20 1428497 1428497 single base substitution C T downstream_gene_variant LIRI-JP 20 1428497 1428497 single base substitution C T intron_variant LIRI-JP 20 1428933 1428933 single base substitution T A downstream_gene_variant LIRI-JP 20 1428933 1428933 single base substitution T A intron_variant LIRI-JP 20 1431009 1431009 single base substitution T A downstream_gene_variant LIRI-JP 20 1431009 1431009 single base substitution T A intron_variant LIRI-JP 20 1431617 1431617 single base substitution T G downstream_gene_variant LIRI-JP 20 1431617 1431617 single base substitution T G intron_variant LIRI-JP 20 1432448 1432448 single base substitution G C downstream_gene_variant LIRI-JP 20 1432448 1432448 single base substitution G C intron_variant LIRI-JP 20 1434298 1434298 single base substitution T A downstream_gene_variant LIRI-JP 20 1434298 1434298 single base substitution T A intron_variant LIRI-JP 20 1435680 1435680 single base substitution C A 3_prime_UTR_variant LIRI-JP 20 1435680 1435680 single base substitution C A downstream_gene_variant LIRI-JP 20 1435680 1435680 single base substitution C A exon_variant LIRI-JP 20 1435680 1435680 single base substitution C A missense_variant A126S 376G>T LIRI-JP 20 1435680 1435680 single base substitution C A missense_variant A128S 382G>T LIRI-JP 20 1435680 1435680 single base substitution C A missense_variant A15S 43G>T LIRI-JP 20 1435680 1435680 single base substitution C A splice_region_variant LIRI-JP 20 1435772 1435772 single base substitution T C 3_prime_UTR_variant LIRI-JP 20 1435772 1435772 single base substitution T C downstream_gene_variant LIRI-JP 20 1435772 1435772 single base substitution T C exon_variant LIRI-JP 20 1435772 1435772 single base substitution T C intron_variant LIRI-JP 20 1435772 1435772 single base substitution T C missense_variant Y95C 284A>G LIRI-JP 20 1435772 1435772 single base substitution T C missense_variant Y97C 290A>G LIRI-JP 20 1438200 1438200 single base substitution C T downstream_gene_variant LIRI-JP 20 1438200 1438200 single base substitution C T intron_variant LIRI-JP 20 1438200 1438200 single base substitution C T upstream_gene_variant LIRI-JP 20 1438251 1438251 single base substitution A G downstream_gene_variant LIRI-JP 20 1438251 1438251 single base substitution A G intron_variant LIRI-JP 20 1438251 1438251 single base substitution A G upstream_gene_variant LIRI-JP 20 1439932 1439932 single base substitution T C downstream_gene_variant LIRI-JP 20 1439932 1439932 single base substitution T C intron_variant LIRI-JP 20 1439932 1439932 single base substitution T C upstream_gene_variant LIRI-JP 20 1441979 1441979 single base substitution T C downstream_gene_variant LIRI-JP 20 1441979 1441979 single base substitution T C intron_variant LIRI-JP 20 1441979 1441979 single base substitution T C upstream_gene_variant LIRI-JP 20 1442709 1442709 single base substitution T C downstream_gene_variant LIRI-JP 20 1442709 1442709 single base substitution T C intron_variant LIRI-JP 20 1442709 1442709 single base substitution T C upstream_gene_variant LIRI-JP 20 1442956 1442956 single base substitution T C downstream_gene_variant LIRI-JP 20 1442956 1442956 single base substitution T C intron_variant LIRI-JP 20 1443770 1443770 single base substitution G A downstream_gene_variant LIRI-JP 20 1443770 1443770 single base substitution G A intron_variant LIRI-JP 20 1444154 1444154 single base substitution G T downstream_gene_variant LIRI-JP 20 1444154 1444154 single base substitution G T intron_variant LIRI-JP 20 1448545 1448545 single base substitution C T intron_variant LIRI-JP 20 1448545 1448545 single base substitution C T upstream_gene_variant LIRI-JP 20 1450489 1450489 single base substitution C G intron_variant LIRI-JP 20 1450489 1450489 single base substitution C G upstream_gene_variant LIRI-JP 20 1454152 1454152 single base substitution G A intron_variant LIRI-JP 20 1456207 1456207 single base substitution C G upstream_gene_variant LUSC-KR 20 1418786 1418786 single base substitution G C downstream_gene_variant LUSC-KR 20 1419431 1419431 single base substitution T C downstream_gene_variant LUSC-KR 20 1423472 1423472 single base substitution T C 3_prime_UTR_variant LUSC-KR 20 1423472 1423472 single base substitution T C downstream_gene_variant LUSC-KR 20 1423472 1423472 single base substitution T C exon_variant LUSC-KR 20 1428522 1428522 single base substitution G A downstream_gene_variant LUSC-KR 20 1428522 1428522 single base substitution G A intron_variant LUSC-KR 20 1429938 1429938 single base substitution C A downstream_gene_variant LUSC-KR 20 1429938 1429938 single base substitution C A intron_variant LUSC-KR 20 1437445 1437445 single base substitution C A downstream_gene_variant LUSC-KR 20 1437445 1437445 single base substitution C A exon_variant LUSC-KR 20 1437445 1437445 single base substitution C A intron_variant LUSC-KR 20 1442081 1442081 single base substitution G C downstream_gene_variant LUSC-KR 20 1442081 1442081 single base substitution G C intron_variant LUSC-KR 20 1442081 1442081 single base substitution G C upstream_gene_variant LUSC-KR 20 1448612 1448612 single base substitution C T intron_variant LUSC-KR 20 1448612 1448612 single base substitution C T upstream_gene_variant LUSC-KR 20 1448898 1448898 single base substitution G C intron_variant LUSC-KR 20 1448898 1448898 single base substitution G C upstream_gene_variant LUSC-KR 20 1451525 1451525 single base substitution T G intron_variant LUSC-KR 20 1451525 1451525 single base substitution T G upstream_gene_variant LUSC-KR 20 1457142 1457142 single base substitution C T upstream_gene_variant LUSC-US 20 1435635 1435635 single base substitution G C 3_prime_UTR_variant LUSC-US 20 1435635 1435635 single base substitution G C downstream_gene_variant LUSC-US 20 1435635 1435635 single base substitution G C exon_variant LUSC-US 20 1435635 1435635 single base substitution G C missense_variant P141A 421C>G LUSC-US 20 1435635 1435635 single base substitution G C missense_variant P143A 427C>G LUSC-US 20 1435635 1435635 single base substitution G C missense_variant P30A 88C>G LUSC-US 20 1456912 1456912 single base substitution G A upstream_gene_variant LUSC-US 20 1458025 1458025 single base substitution C A upstream_gene_variant MALY-DE 20 1420182 1420182 single base substitution C T downstream_gene_variant MALY-DE 20 1420397 1420397 single base substitution C T downstream_gene_variant MALY-DE 20 1423522 1423522 single base substitution C T 3_prime_UTR_variant MALY-DE 20 1423522 1423522 single base substitution C T downstream_gene_variant MALY-DE 20 1423522 1423522 single base substitution C T exon_variant MALY-DE 20 1428119 1428119 single base substitution T G intron_variant MALY-DE 20 1429878 1429878 single base substitution A C downstream_gene_variant MALY-DE 20 1429878 1429878 single base substitution A C intron_variant MALY-DE 20 1438069 1438069 single base substitution C T downstream_gene_variant MALY-DE 20 1438069 1438069 single base substitution C T intron_variant MALY-DE 20 1438069 1438069 single base substitution C T upstream_gene_variant MALY-DE 20 1450929 1450929 single base substitution T G intron_variant MALY-DE 20 1450929 1450929 single base substitution T G upstream_gene_variant MELA-AU 20 1417839 1417839 single base substitution C T downstream_gene_variant MELA-AU 20 1418781 1418781 single base substitution G A downstream_gene_variant MELA-AU 20 1419347 1419347 single base substitution G A downstream_gene_variant MELA-AU 20 1420459 1420459 single base substitution G A downstream_gene_variant MELA-AU 20 1420732 1420733 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 20 1421264 1421264 single base substitution C T downstream_gene_variant MELA-AU 20 1421389 1421389 single base substitution G A downstream_gene_variant MELA-AU 20 1422633 1422634 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 20 1423116 1423116 single base substitution G A 3_prime_UTR_variant MELA-AU 20 1423116 1423116 single base substitution G A downstream_gene_variant MELA-AU 20 1423116 1423116 single base substitution G A exon_variant MELA-AU 20 1423135 1423135 single base substitution G A 3_prime_UTR_variant MELA-AU 20 1423135 1423135 single base substitution G A downstream_gene_variant MELA-AU 20 1423135 1423135 single base substitution G A exon_variant MELA-AU 20 1423825 1423825 single base substitution C T 3_prime_UTR_variant MELA-AU 20 1423825 1423825 single base substitution C T downstream_gene_variant MELA-AU 20 1423825 1423825 single base substitution C T exon_variant MELA-AU 20 1423991 1423991 single base substitution G A 3_prime_UTR_variant MELA-AU 20 1423991 1423991 single base substitution G A downstream_gene_variant MELA-AU 20 1423991 1423991 single base substitution G A exon_variant MELA-AU 20 1424369 1424369 single base substitution G A 3_prime_UTR_variant MELA-AU 20 1424369 1424369 single base substitution G A downstream_gene_variant MELA-AU 20 1424369 1424369 single base substitution G A exon_variant MELA-AU 20 1424476 1424477 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 20 1424476 1424477 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 20 1424476 1424477 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 20 1424476 1424477 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P233L 697CC>TT MELA-AU 20 1424476 1424477 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P313L 937CC>TT MELA-AU 20 1424476 1424477 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P344L 1030CC>TT MELA-AU 20 1424476 1424477 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P346L 1036CC>TT MELA-AU 20 1424698 1424698 single base substitution A T downstream_gene_variant MELA-AU 20 1424698 1424698 single base substitution A T intron_variant MELA-AU 20 1424736 1424736 single base substitution C G downstream_gene_variant MELA-AU 20 1424736 1424736 single base substitution C G intron_variant MELA-AU 20 1425004 1425004 single base substitution T C downstream_gene_variant MELA-AU 20 1425004 1425004 single base substitution T C intron_variant MELA-AU 20 1425336 1425336 single base substitution A G downstream_gene_variant MELA-AU 20 1425336 1425336 single base substitution A G intron_variant MELA-AU 20 1425689 1425689 single base substitution G A downstream_gene_variant MELA-AU 20 1425689 1425689 single base substitution G A intron_variant MELA-AU 20 1426061 1426061 single base substitution C T downstream_gene_variant MELA-AU 20 1426061 1426061 single base substitution C T intron_variant MELA-AU 20 1426066 1426067 multiple base substitution (>=2bp and <=200bp) AT TC downstream_gene_variant MELA-AU 20 1426066 1426067 multiple base substitution (>=2bp and <=200bp) AT TC intron_variant MELA-AU 20 1426203 1426203 single base substitution G A downstream_gene_variant MELA-AU 20 1426203 1426203 single base substitution G A intron_variant MELA-AU 20 1426226 1426226 single base substitution G A downstream_gene_variant MELA-AU 20 1426226 1426226 single base substitution G A intron_variant MELA-AU 20 1426863 1426863 single base substitution G A intron_variant MELA-AU 20 1427238 1427238 single base substitution G A intron_variant MELA-AU 20 1427991 1427991 single base substitution G A intron_variant MELA-AU 20 1428714 1428714 single base substitution A C downstream_gene_variant MELA-AU 20 1428714 1428714 single base substitution A C intron_variant MELA-AU 20 1428845 1428845 single base substitution G A downstream_gene_variant MELA-AU 20 1428845 1428845 single base substitution G A intron_variant MELA-AU 20 1429097 1429097 single base substitution G A downstream_gene_variant MELA-AU 20 1429097 1429097 single base substitution G A intron_variant MELA-AU 20 1429556 1429556 single base substitution G A downstream_gene_variant MELA-AU 20 1429556 1429556 single base substitution G A intron_variant MELA-AU 20 1429805 1429805 single base substitution G A downstream_gene_variant MELA-AU 20 1429805 1429805 single base substitution G A intron_variant MELA-AU 20 1430477 1430477 single base substitution A C downstream_gene_variant MELA-AU 20 1430477 1430477 single base substitution A C intron_variant MELA-AU 20 1430564 1430564 single base substitution C T downstream_gene_variant MELA-AU 20 1430564 1430564 single base substitution C T intron_variant MELA-AU 20 1430699 1430699 single base substitution G A downstream_gene_variant MELA-AU 20 1430699 1430699 single base substitution G A intron_variant MELA-AU 20 1431284 1431284 single base substitution C T downstream_gene_variant MELA-AU 20 1431284 1431284 single base substitution C T intron_variant MELA-AU 20 1431509 1431509 single base substitution A G downstream_gene_variant MELA-AU 20 1431509 1431509 single base substitution A G intron_variant MELA-AU 20 1431844 1431844 single base substitution G A downstream_gene_variant MELA-AU 20 1431844 1431844 single base substitution G A intron_variant MELA-AU 20 1431952 1431952 single base substitution G A downstream_gene_variant MELA-AU 20 1431952 1431952 single base substitution G A intron_variant MELA-AU 20 1432171 1432171 single base substitution G A downstream_gene_variant MELA-AU 20 1432171 1432171 single base substitution G A intron_variant MELA-AU 20 1432329 1432329 single base substitution G A downstream_gene_variant MELA-AU 20 1432329 1432329 single base substitution G A intron_variant MELA-AU 20 1432548 1432548 single base substitution A G downstream_gene_variant MELA-AU 20 1432548 1432548 single base substitution A G intron_variant MELA-AU 20 1432726 1432726 single base substitution G A downstream_gene_variant MELA-AU 20 1432726 1432726 single base substitution G A intron_variant MELA-AU 20 1433340 1433340 single base substitution G A downstream_gene_variant MELA-AU 20 1433340 1433340 single base substitution G A intron_variant MELA-AU 20 1433458 1433458 single base substitution G A downstream_gene_variant MELA-AU 20 1433458 1433458 single base substitution G A intron_variant MELA-AU 20 1434475 1434475 single base substitution G A downstream_gene_variant MELA-AU 20 1434475 1434475 single base substitution G A intron_variant MELA-AU 20 1434747 1434747 single base substitution T C downstream_gene_variant MELA-AU 20 1434747 1434747 single base substitution T C intron_variant MELA-AU 20 1435051 1435051 single base substitution G A downstream_gene_variant MELA-AU 20 1435051 1435051 single base substitution G A intron_variant MELA-AU 20 1435760 1435760 single base substitution G A 3_prime_UTR_variant MELA-AU 20 1435760 1435760 single base substitution G A downstream_gene_variant MELA-AU 20 1435760 1435760 single base substitution G A exon_variant MELA-AU 20 1435760 1435760 single base substitution G A intron_variant MELA-AU 20 1435760 1435760 single base substitution G A missense_variant S101L 302C>T MELA-AU 20 1435760 1435760 single base substitution G A missense_variant S99L 296C>T MELA-AU 20 1436248 1436248 single base substitution G A downstream_gene_variant MELA-AU 20 1436248 1436248 single base substitution G A intron_variant MELA-AU 20 1436520 1436520 single base substitution G A downstream_gene_variant MELA-AU 20 1436520 1436520 single base substitution G A exon_variant MELA-AU 20 1436520 1436520 single base substitution G A intron_variant MELA-AU 20 1436520 1436520 single base substitution G A splice_region_variant MELA-AU 20 1437275 1437275 single base substitution G A downstream_gene_variant MELA-AU 20 1437275 1437275 single base substitution G A exon_variant MELA-AU 20 1437275 1437275 single base substitution G A intron_variant MELA-AU 20 1437685 1437685 single base substitution G C downstream_gene_variant MELA-AU 20 1437685 1437685 single base substitution G C exon_variant MELA-AU 20 1437685 1437685 single base substitution G C intron_variant MELA-AU 20 1437884 1437884 single base substitution G A downstream_gene_variant MELA-AU 20 1437884 1437884 single base substitution G A intron_variant MELA-AU 20 1437884 1437884 single base substitution G A upstream_gene_variant MELA-AU 20 1438289 1438289 single base substitution G A downstream_gene_variant MELA-AU 20 1438289 1438289 single base substitution G A intron_variant MELA-AU 20 1438289 1438289 single base substitution G A upstream_gene_variant MELA-AU 20 1438350 1438350 single base substitution T C downstream_gene_variant MELA-AU 20 1438350 1438350 single base substitution T C intron_variant MELA-AU 20 1438350 1438350 single base substitution T C upstream_gene_variant MELA-AU 20 1438541 1438541 single base substitution G C downstream_gene_variant MELA-AU 20 1438541 1438541 single base substitution G C intron_variant MELA-AU 20 1438541 1438541 single base substitution G C upstream_gene_variant MELA-AU 20 1439863 1439863 single base substitution G A downstream_gene_variant MELA-AU 20 1439863 1439863 single base substitution G A intron_variant MELA-AU 20 1439863 1439863 single base substitution G A upstream_gene_variant MELA-AU 20 1442142 1442142 single base substitution G A downstream_gene_variant MELA-AU 20 1442142 1442142 single base substitution G A intron_variant MELA-AU 20 1442142 1442142 single base substitution G A upstream_gene_variant MELA-AU 20 1442573 1442573 single base substitution T C downstream_gene_variant MELA-AU 20 1442573 1442573 single base substitution T C intron_variant MELA-AU 20 1442573 1442573 single base substitution T C upstream_gene_variant MELA-AU 20 1443018 1443018 single base substitution T C downstream_gene_variant MELA-AU 20 1443018 1443018 single base substitution T C intron_variant MELA-AU 20 1443088 1443088 single base substitution C T downstream_gene_variant MELA-AU 20 1443088 1443088 single base substitution C T intron_variant MELA-AU 20 1443664 1443664 single base substitution G A downstream_gene_variant MELA-AU 20 1443664 1443664 single base substitution G A intron_variant MELA-AU 20 1443814 1443814 single base substitution A G downstream_gene_variant MELA-AU 20 1443814 1443814 single base substitution A G intron_variant MELA-AU 20 1443816 1443816 single base substitution A G downstream_gene_variant MELA-AU 20 1443816 1443816 single base substitution A G intron_variant MELA-AU 20 1444149 1444149 single base substitution G A downstream_gene_variant MELA-AU 20 1444149 1444149 single base substitution G A intron_variant MELA-AU 20 1444371 1444371 single base substitution G A downstream_gene_variant MELA-AU 20 1444371 1444371 single base substitution G A intron_variant MELA-AU 20 1444488 1444488 single base substitution G A downstream_gene_variant MELA-AU 20 1444488 1444488 single base substitution G A intron_variant MELA-AU 20 1445191 1445191 single base substitution G A intron_variant MELA-AU 20 1445277 1445277 single base substitution G A intron_variant MELA-AU 20 1445563 1445564 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 1445760 1445760 single base substitution G A intron_variant MELA-AU 20 1446372 1446372 single base substitution G A intron_variant MELA-AU 20 1446730 1446730 single base substitution G A intron_variant MELA-AU 20 1447631 1447631 single base substitution C T 5_prime_UTR_variant MELA-AU 20 1447631 1447631 single base substitution C T intron_variant MELA-AU 20 1447631 1447631 single base substitution C T upstream_gene_variant MELA-AU 20 1447632 1447632 single base substitution C T 5_prime_UTR_variant MELA-AU 20 1447632 1447632 single base substitution C T intron_variant MELA-AU 20 1447632 1447632 single base substitution C T upstream_gene_variant MELA-AU 20 1447659 1447659 single base substitution C T 5_prime_UTR_variant MELA-AU 20 1447659 1447659 single base substitution C T intron_variant MELA-AU 20 1447659 1447659 single base substitution C T upstream_gene_variant MELA-AU 20 1448367 1448367 single base substitution C T 5_prime_UTR_variant MELA-AU 20 1448367 1448367 single base substitution C T intron_variant MELA-AU 20 1448367 1448367 single base substitution C T upstream_gene_variant MELA-AU 20 1448514 1448514 single base substitution C T intron_variant MELA-AU 20 1448514 1448514 single base substitution C T upstream_gene_variant MELA-AU 20 1448753 1448753 single base substitution C T intron_variant MELA-AU 20 1448753 1448753 single base substitution C T upstream_gene_variant MELA-AU 20 1448838 1448838 single base substitution T G intron_variant MELA-AU 20 1448838 1448838 single base substitution T G upstream_gene_variant MELA-AU 20 1448965 1448965 single base substitution C T intron_variant MELA-AU 20 1448965 1448965 single base substitution C T upstream_gene_variant MELA-AU 20 1449304 1449304 single base substitution G A intron_variant MELA-AU 20 1449304 1449304 single base substitution G A upstream_gene_variant MELA-AU 20 1449462 1449462 single base substitution C T intron_variant MELA-AU 20 1449462 1449462 single base substitution C T upstream_gene_variant MELA-AU 20 1449512 1449512 single base substitution C T intron_variant MELA-AU 20 1449512 1449512 single base substitution C T upstream_gene_variant MELA-AU 20 1449524 1449524 single base substitution C T intron_variant MELA-AU 20 1449524 1449524 single base substitution C T upstream_gene_variant MELA-AU 20 1450055 1450055 single base substitution C T intron_variant MELA-AU 20 1450055 1450055 single base substitution C T upstream_gene_variant MELA-AU 20 1450069 1450069 single base substitution C T intron_variant MELA-AU 20 1450069 1450069 single base substitution C T upstream_gene_variant MELA-AU 20 1450198 1450198 single base substitution C T intron_variant MELA-AU 20 1450198 1450198 single base substitution C T upstream_gene_variant MELA-AU 20 1452305 1452305 single base substitution G A intron_variant MELA-AU 20 1452305 1452305 single base substitution G A upstream_gene_variant MELA-AU 20 1452374 1452374 single base substitution G A intron_variant MELA-AU 20 1452374 1452374 single base substitution G A upstream_gene_variant MELA-AU 20 1452461 1452461 single base substitution A G intron_variant MELA-AU 20 1452461 1452461 single base substitution A G upstream_gene_variant MELA-AU 20 1452872 1452872 single base substitution G A intron_variant MELA-AU 20 1452872 1452872 single base substitution G A upstream_gene_variant MELA-AU 20 1452925 1452925 single base substitution C A intron_variant MELA-AU 20 1452925 1452925 single base substitution C A upstream_gene_variant MELA-AU 20 1452940 1452940 single base substitution G A intron_variant MELA-AU 20 1452940 1452940 single base substitution G A upstream_gene_variant MELA-AU 20 1452941 1452941 single base substitution G A intron_variant MELA-AU 20 1452941 1452941 single base substitution G A upstream_gene_variant MELA-AU 20 1453044 1453045 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 20 1453044 1453045 multiple base substitution (>=2bp and <=200bp) CC GT upstream_gene_variant MELA-AU 20 1453074 1453074 single base substitution C T intron_variant MELA-AU 20 1453074 1453074 single base substitution C T upstream_gene_variant MELA-AU 20 1453088 1453088 single base substitution G A intron_variant MELA-AU 20 1453088 1453088 single base substitution G A upstream_gene_variant MELA-AU 20 1453119 1453119 single base substitution G A intron_variant MELA-AU 20 1453119 1453119 single base substitution G A upstream_gene_variant MELA-AU 20 1453425 1453425 single base substitution C T exon_variant MELA-AU 20 1453552 1453552 single base substitution C T exon_variant MELA-AU 20 1453597 1453597 single base substitution C T exon_variant MELA-AU 20 1453709 1453709 single base substitution C T intron_variant MELA-AU 20 1454002 1454002 single base substitution C G intron_variant MELA-AU 20 1454044 1454045 multiple base substitution (>=2bp and <=200bp) CA TG intron_variant MELA-AU 20 1454290 1454291 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 1454411 1454412 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 1454469 1454469 single base substitution C T exon_variant MELA-AU 20 1454602 1454602 single base substitution C T upstream_gene_variant MELA-AU 20 1454776 1454776 single base substitution C T upstream_gene_variant MELA-AU 20 1454943 1454943 single base substitution G A upstream_gene_variant MELA-AU 20 1455721 1455721 single base substitution C T upstream_gene_variant MELA-AU 20 1455798 1455798 single base substitution A G upstream_gene_variant MELA-AU 20 1455855 1455855 single base substitution T C upstream_gene_variant MELA-AU 20 1455871 1455871 single base substitution G A upstream_gene_variant MELA-AU 20 1456141 1456141 single base substitution C T upstream_gene_variant MELA-AU 20 1456143 1456143 single base substitution C T upstream_gene_variant MELA-AU 20 1456461 1456461 single base substitution G A upstream_gene_variant MELA-AU 20 1456495 1456495 single base substitution G A upstream_gene_variant MELA-AU 20 1456517 1456517 single base substitution G A upstream_gene_variant MELA-AU 20 1456634 1456634 single base substitution G A upstream_gene_variant MELA-AU 20 1456664 1456664 single base substitution C T upstream_gene_variant MELA-AU 20 1456727 1456728 multiple base substitution (>=2bp and <=200bp) AG GA upstream_gene_variant MELA-AU 20 1456735 1456735 single base substitution G A upstream_gene_variant MELA-AU 20 1456748 1456749 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 20 1456809 1456809 single base substitution C T upstream_gene_variant MELA-AU 20 1456982 1456982 single base substitution C T upstream_gene_variant MELA-AU 20 1457171 1457171 single base substitution A T upstream_gene_variant MELA-AU 20 1457313 1457313 single base substitution G A upstream_gene_variant MELA-AU 20 1457345 1457345 single base substitution G A upstream_gene_variant MELA-AU 20 1457644 1457644 single base substitution C T upstream_gene_variant MELA-AU 20 1457754 1457754 single base substitution C T upstream_gene_variant MELA-AU 20 1457879 1457879 single base substitution G A upstream_gene_variant MELA-AU 20 1457998 1457998 single base substitution C T upstream_gene_variant MELA-AU 20 1458033 1458033 single base substitution G A upstream_gene_variant MELA-AU 20 1458056 1458056 single base substitution G A upstream_gene_variant MELA-AU 20 1458384 1458384 single base substitution G A upstream_gene_variant MELA-AU 20 1458403 1458403 single base substitution C T upstream_gene_variant MELA-AU 20 1458534 1458534 single base substitution G A upstream_gene_variant MELA-AU 20 1458557 1458557 single base substitution G A upstream_gene_variant MELA-AU 20 1458634 1458634 single base substitution A G upstream_gene_variant MELA-AU 20 1458717 1458717 single base substitution G A upstream_gene_variant MELA-AU 20 1458744 1458744 single base substitution G A upstream_gene_variant MELA-AU 20 1458761 1458761 single base substitution C T upstream_gene_variant MELA-AU 20 1458792 1458792 single base substitution G A upstream_gene_variant MELA-AU 20 1458850 1458850 single base substitution G A upstream_gene_variant MELA-AU 20 1458858 1458858 single base substitution C T upstream_gene_variant MELA-AU 20 1458883 1458883 single base substitution C T upstream_gene_variant MELA-AU 20 1459067 1459067 single base substitution G A upstream_gene_variant MELA-AU 20 1459138 1459138 single base substitution C T upstream_gene_variant MELA-AU 20 1459244 1459245 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 20 1459329 1459329 single base substitution C T upstream_gene_variant ORCA-IN 20 1418546 1418546 single base substitution C A downstream_gene_variant ORCA-IN 20 1433437 1433437 single base substitution C G downstream_gene_variant ORCA-IN 20 1433437 1433437 single base substitution C G intron_variant ORCA-IN 20 1438918 1438918 single base substitution C G missense_variant D69H 205G>C ORCA-IN 20 1438918 1438918 single base substitution C G splice_region_variant ORCA-IN 20 1438918 1438918 single base substitution C G upstream_gene_variant OV-AU 20 1418096 1418096 single base substitution C T downstream_gene_variant OV-AU 20 1422883 1422883 single base substitution C G 3_prime_UTR_variant OV-AU 20 1422883 1422883 single base substitution C G downstream_gene_variant OV-AU 20 1422883 1422883 single base substitution C G exon_variant OV-AU 20 1424283 1424283 single base substitution G C 3_prime_UTR_variant OV-AU 20 1424283 1424283 single base substitution G C downstream_gene_variant OV-AU 20 1424283 1424283 single base substitution G C exon_variant OV-AU 20 1430136 1430136 single base substitution A G downstream_gene_variant OV-AU 20 1430136 1430136 single base substitution A G intron_variant OV-AU 20 1434592 1434592 single base substitution C T downstream_gene_variant OV-AU 20 1434592 1434592 single base substitution C T intron_variant OV-AU 20 1439954 1439954 single base substitution A G downstream_gene_variant OV-AU 20 1439954 1439954 single base substitution A G intron_variant OV-AU 20 1439954 1439954 single base substitution A G upstream_gene_variant OV-AU 20 1450021 1450021 single base substitution C G intron_variant OV-AU 20 1450021 1450021 single base substitution C G upstream_gene_variant OV-AU 20 1450408 1450408 single base substitution A C intron_variant OV-AU 20 1450408 1450408 single base substitution A C upstream_gene_variant OV-AU 20 1451385 1451385 single base substitution C T intron_variant OV-AU 20 1451385 1451385 single base substitution C T upstream_gene_variant OV-AU 20 1453700 1453700 single base substitution C T intron_variant OV-AU 20 1457298 1457298 single base substitution C G upstream_gene_variant OV-AU 20 1457605 1457605 single base substitution G A upstream_gene_variant PACA-AU 20 1419353 1419353 single base substitution G T downstream_gene_variant PACA-AU 20 1419709 1419724 deletion of <=200bp TTCACCCAGAGCTGAC - downstream_gene_variant PACA-AU 20 1430407 1430407 single base substitution T C downstream_gene_variant PACA-AU 20 1430407 1430407 single base substitution T C intron_variant PACA-AU 20 1431377 1431377 single base substitution T C downstream_gene_variant PACA-AU 20 1431377 1431377 single base substitution T C intron_variant PACA-AU 20 1433727 1433727 single base substitution C T 3_prime_UTR_variant PACA-AU 20 1433727 1433727 single base substitution C T downstream_gene_variant PACA-AU 20 1433727 1433727 single base substitution C T exon_variant PACA-AU 20 1433727 1433727 single base substitution C T missense_variant R168K 503G>A PACA-AU 20 1433727 1433727 single base substitution C T missense_variant R199K 596G>A PACA-AU 20 1433727 1433727 single base substitution C T missense_variant R201K 602G>A PACA-AU 20 1433727 1433727 single base substitution C T missense_variant R88K 263G>A PACA-AU 20 1445061 1445061 single base substitution G A exon_variant PACA-AU 20 1445061 1445061 single base substitution G A intron_variant PACA-AU 20 1445061 1445061 single base substitution G A missense_variant A39V 116C>T PACA-AU 20 1445430 1445430 single base substitution C A intron_variant PACA-AU 20 1449419 1449419 deletion of <=200bp C - intron_variant PACA-AU 20 1449419 1449419 deletion of <=200bp C - upstream_gene_variant PACA-AU 20 1450844 1450844 single base substitution T C intron_variant PACA-AU 20 1450844 1450844 single base substitution T C upstream_gene_variant PACA-AU 20 1454044 1454044 single base substitution C T intron_variant PACA-AU 20 1454045 1454045 single base substitution A G intron_variant PACA-AU 20 1454357 1454357 single base substitution G T intron_variant PACA-AU 20 1456192 1456192 single base substitution G C upstream_gene_variant PACA-AU 20 1458160 1458160 single base substitution T C upstream_gene_variant PACA-CA 20 1418849 1418849 insertion of <=200bp - A downstream_gene_variant PACA-CA 20 1421246 1421246 single base substitution G T downstream_gene_variant PACA-CA 20 1421604 1421604 single base substitution C A downstream_gene_variant PACA-CA 20 1424325 1424325 single base substitution C T 3_prime_UTR_variant PACA-CA 20 1424325 1424325 single base substitution C T downstream_gene_variant PACA-CA 20 1424325 1424325 single base substitution C T exon_variant PACA-CA 20 1425383 1425383 single base substitution G C downstream_gene_variant PACA-CA 20 1425383 1425383 single base substitution G C intron_variant PACA-CA 20 1426239 1426239 single base substitution C G downstream_gene_variant PACA-CA 20 1426239 1426239 single base substitution C G intron_variant PACA-CA 20 1431700 1431700 single base substitution C T downstream_gene_variant PACA-CA 20 1431700 1431700 single base substitution C T intron_variant PACA-CA 20 1439611 1439611 single base substitution G A downstream_gene_variant PACA-CA 20 1439611 1439611 single base substitution G A intron_variant PACA-CA 20 1439611 1439611 single base substitution G A upstream_gene_variant PACA-CA 20 1441733 1441733 insertion of <=200bp - TG downstream_gene_variant PACA-CA 20 1441733 1441733 insertion of <=200bp - TG intron_variant PACA-CA 20 1441733 1441733 insertion of <=200bp - TG upstream_gene_variant PACA-CA 20 1441737 1441737 deletion of <=200bp G - downstream_gene_variant PACA-CA 20 1441737 1441737 deletion of <=200bp G - intron_variant PACA-CA 20 1441737 1441737 deletion of <=200bp G - upstream_gene_variant PACA-CA 20 1444225 1444225 single base substitution T C downstream_gene_variant PACA-CA 20 1444225 1444225 single base substitution T C intron_variant PACA-CA 20 1445690 1445690 single base substitution C A intron_variant PACA-CA 20 1454010 1454010 single base substitution C T intron_variant PAEN-AU 20 1447580 1447580 single base substitution C A 5_prime_UTR_variant PAEN-AU 20 1447580 1447580 single base substitution C A intron_variant PAEN-AU 20 1447580 1447580 single base substitution C A upstream_gene_variant PAEN-AU 20 1447583 1447583 single base substitution G A 5_prime_UTR_variant PAEN-AU 20 1447583 1447583 single base substitution G A intron_variant PAEN-AU 20 1447583 1447583 single base substitution G A upstream_gene_variant PAEN-AU 20 1450186 1450186 single base substitution A C intron_variant PAEN-AU 20 1450186 1450186 single base substitution A C upstream_gene_variant PAEN-IT 20 1428348 1428348 single base substitution C A downstream_gene_variant PAEN-IT 20 1428348 1428348 single base substitution C A intron_variant PBCA-DE 20 1418842 1418842 insertion of <=200bp - T downstream_gene_variant PBCA-DE 20 1426080 1426080 single base substitution G T downstream_gene_variant PBCA-DE 20 1426080 1426080 single base substitution G T intron_variant PBCA-DE 20 1431655 1431655 single base substitution A G downstream_gene_variant PBCA-DE 20 1431655 1431655 single base substitution A G intron_variant PBCA-DE 20 1445780 1445780 single base substitution C A intron_variant PBCA-DE 20 1454796 1454796 single base substitution A T upstream_gene_variant PBCA-DE 20 1455798 1455798 single base substitution A G upstream_gene_variant PRAD-CA 20 1420059 1420059 single base substitution G A downstream_gene_variant PRAD-CA 20 1422455 1422455 single base substitution C A downstream_gene_variant PRAD-CA 20 1450829 1450829 single base substitution G T intron_variant PRAD-CA 20 1450829 1450829 single base substitution G T upstream_gene_variant PRAD-UK 20 1421866 1421866 single base substitution T A downstream_gene_variant PRAD-UK 20 1428951 1428951 single base substitution C T downstream_gene_variant PRAD-UK 20 1428951 1428951 single base substitution C T intron_variant PRAD-UK 20 1444034 1444034 single base substitution T C 3_prime_UTR_variant PRAD-UK 20 1444034 1444034 single base substitution T C downstream_gene_variant PRAD-UK 20 1444034 1444034 single base substitution T C intron_variant PRAD-UK 20 1450558 1450558 insertion of <=200bp - A intron_variant PRAD-UK 20 1450558 1450558 insertion of <=200bp - A upstream_gene_variant PRAD-UK 20 1453308 1453308 single base substitution A T intron_variant PRAD-UK 20 1453308 1453308 single base substitution A T upstream_gene_variant PRAD-UK 20 1454276 1454276 single base substitution C G intron_variant PRAD-US 20 1433675 1433675 single base substitution C T downstream_gene_variant PRAD-US 20 1433675 1433675 single base substitution C T splice_donor_variant PRAD-US 20 1445045 1445045 single base substitution G A exon_variant PRAD-US 20 1445045 1445045 single base substitution G A intron_variant PRAD-US 20 1445045 1445045 single base substitution G A synonymous_variant D44D 132C>T READ-US 20 1426360 1426360 single base substitution G A 3_prime_UTR_variant READ-US 20 1426360 1426360 single base substitution G A exon_variant READ-US 20 1426360 1426360 single base substitution G A missense_variant R190W 568C>T READ-US 20 1426360 1426360 single base substitution G A missense_variant R270W 808C>T READ-US 20 1426360 1426360 single base substitution G A missense_variant R301W 901C>T READ-US 20 1426360 1426360 single base substitution G A missense_variant R303W 907C>T READ-US 20 1445016 1445016 single base substitution G A exon_variant READ-US 20 1445016 1445016 single base substitution G A intron_variant READ-US 20 1445016 1445016 single base substitution G A missense_variant S54L 161C>T RECA-EU 20 1419967 1419967 single base substitution A T downstream_gene_variant RECA-EU 20 1427343 1427343 single base substitution C G intron_variant RECA-EU 20 1431488 1431488 single base substitution T C downstream_gene_variant RECA-EU 20 1431488 1431488 single base substitution T C intron_variant RECA-EU 20 1442774 1442774 single base substitution T C downstream_gene_variant RECA-EU 20 1442774 1442774 single base substitution T C intron_variant RECA-EU 20 1458676 1458676 single base substitution G T upstream_gene_variant SKCA-BR 20 1418324 1418324 single base substitution G A downstream_gene_variant SKCA-BR 20 1420739 1420739 single base substitution G A downstream_gene_variant SKCA-BR 20 1423623 1423623 single base substitution G A 3_prime_UTR_variant SKCA-BR 20 1423623 1423623 single base substitution G A downstream_gene_variant SKCA-BR 20 1423623 1423623 single base substitution G A exon_variant SKCA-BR 20 1423624 1423624 single base substitution G A 3_prime_UTR_variant SKCA-BR 20 1423624 1423624 single base substitution G A downstream_gene_variant SKCA-BR 20 1423624 1423624 single base substitution G A exon_variant SKCA-BR 20 1424035 1424035 single base substitution A T 3_prime_UTR_variant SKCA-BR 20 1424035 1424035 single base substitution A T downstream_gene_variant SKCA-BR 20 1424035 1424035 single base substitution A T exon_variant SKCA-BR 20 1424303 1424303 single base substitution G A 3_prime_UTR_variant SKCA-BR 20 1424303 1424303 single base substitution G A downstream_gene_variant SKCA-BR 20 1424303 1424303 single base substitution G A exon_variant SKCA-BR 20 1427067 1427067 single base substitution G A intron_variant SKCA-BR 20 1429175 1429175 single base substitution G A downstream_gene_variant SKCA-BR 20 1429175 1429175 single base substitution G A intron_variant SKCA-BR 20 1429398 1429398 single base substitution G A downstream_gene_variant SKCA-BR 20 1429398 1429398 single base substitution G A intron_variant SKCA-BR 20 1429840 1429840 single base substitution G A downstream_gene_variant SKCA-BR 20 1429840 1429840 single base substitution G A intron_variant SKCA-BR 20 1438230 1438230 single base substitution C T downstream_gene_variant SKCA-BR 20 1438230 1438230 single base substitution C T intron_variant SKCA-BR 20 1438230 1438230 single base substitution C T upstream_gene_variant SKCA-BR 20 1440469 1440469 single base substitution G A downstream_gene_variant SKCA-BR 20 1440469 1440469 single base substitution G A intron_variant SKCA-BR 20 1440469 1440469 single base substitution G A upstream_gene_variant SKCA-BR 20 1447927 1447927 single base substitution A C 5_prime_UTR_variant SKCA-BR 20 1447927 1447927 single base substitution A C intron_variant SKCA-BR 20 1447927 1447927 single base substitution A C upstream_gene_variant SKCA-BR 20 1449481 1449481 single base substitution C T intron_variant SKCA-BR 20 1449481 1449481 single base substitution C T upstream_gene_variant SKCA-BR 20 1450956 1450956 single base substitution G A intron_variant SKCA-BR 20 1450956 1450956 single base substitution G A upstream_gene_variant SKCA-BR 20 1450957 1450957 single base substitution G A intron_variant SKCA-BR 20 1450957 1450957 single base substitution G A upstream_gene_variant SKCA-BR 20 1453404 1453404 single base substitution G A exon_variant SKCA-BR 20 1453404 1453404 single base substitution G A upstream_gene_variant SKCA-BR 20 1453597 1453597 single base substitution C T exon_variant SKCA-BR 20 1454025 1454035 deletion of <=200bp GCACACACGCA - intron_variant SKCA-BR 20 1454250 1454250 insertion of <=200bp - CT intron_variant SKCA-BR 20 1455368 1455368 single base substitution C T upstream_gene_variant SKCA-BR 20 1456423 1456423 single base substitution G A upstream_gene_variant SKCA-BR 20 1456953 1456953 single base substitution G A upstream_gene_variant SKCA-BR 20 1457318 1457318 single base substitution G A upstream_gene_variant SKCA-BR 20 1458056 1458056 single base substitution G A upstream_gene_variant SKCA-BR 20 1458889 1458889 single base substitution A C upstream_gene_variant SKCM-US 20 1424412 1424412 single base substitution G A 3_prime_UTR_variant SKCM-US 20 1424412 1424412 single base substitution G A downstream_gene_variant SKCM-US 20 1424412 1424412 single base substitution G A exon_variant SKCM-US 20 1424412 1424412 single base substitution G A synonymous_variant I254I 762C>T SKCM-US 20 1424412 1424412 single base substitution G A synonymous_variant I334I 1002C>T SKCM-US 20 1424412 1424412 single base substitution G A synonymous_variant I365I 1095C>T SKCM-US 20 1424412 1424412 single base substitution G A synonymous_variant I367I 1101C>T SKCM-US 20 1426367 1426367 single base substitution G A 3_prime_UTR_variant SKCM-US 20 1426367 1426367 single base substitution G A exon_variant SKCM-US 20 1426367 1426367 single base substitution G A synonymous_variant I187I 561C>T SKCM-US 20 1426367 1426367 single base substitution G A synonymous_variant I267I 801C>T SKCM-US 20 1426367 1426367 single base substitution G A synonymous_variant I298I 894C>T SKCM-US 20 1426367 1426367 single base substitution G A synonymous_variant I300I 900C>T SKCM-US 20 1447388 1447388 single base substitution C T 5_prime_UTR_variant SKCM-US 20 1447388 1447388 single base substitution C T exon_variant SKCM-US 20 1447388 1447388 single base substitution C T intron_variant SKCM-US 20 1447388 1447388 single base substitution C T missense_variant E28K 82G>A SKCM-US 20 1456817 1456817 single base substitution C T upstream_gene_variant SKCM-US 20 1458921 1458921 single base substitution C T upstream_gene_variant SKCM-US 20 1459118 1459118 single base substitution C T upstream_gene_variant SKCM-US 20 1459186 1459186 single base substitution C T upstream_gene_variant SKCM-US 20 1459234 1459234 single base substitution G A upstream_gene_variant STAD-US 20 1426359 1426359 single base substitution C T 3_prime_UTR_variant STAD-US 20 1426359 1426359 single base substitution C T exon_variant STAD-US 20 1426359 1426359 single base substitution C T missense_variant R190Q 569G>A STAD-US 20 1426359 1426359 single base substitution C T missense_variant R270Q 809G>A STAD-US 20 1426359 1426359 single base substitution C T missense_variant R301Q 902G>A STAD-US 20 1426359 1426359 single base substitution C T missense_variant R303Q 908G>A STAD-US 20 1426391 1426391 single base substitution G A 3_prime_UTR_variant STAD-US 20 1426391 1426391 single base substitution G A exon_variant STAD-US 20 1426391 1426391 single base substitution G A synonymous_variant D179D 537C>T STAD-US 20 1426391 1426391 single base substitution G A synonymous_variant D259D 777C>T STAD-US 20 1426391 1426391 single base substitution G A synonymous_variant D290D 870C>T STAD-US 20 1426391 1426391 single base substitution G A synonymous_variant D292D 876C>T STAD-US 20 1426465 1426465 insertion of <=200bp - G 3_prime_UTR_variant STAD-US 20 1426465 1426465 insertion of <=200bp - G exon_variant STAD-US 20 1426465 1426465 insertion of <=200bp - G frameshift_variant Q155P? STAD-US 20 1426465 1426465 insertion of <=200bp - G frameshift_variant Q235P? STAD-US 20 1426465 1426465 insertion of <=200bp - G frameshift_variant Q266P? STAD-US 20 1426465 1426465 insertion of <=200bp - G frameshift_variant Q268P? STAD-US 20 1444988 1444988 single base substitution T C exon_variant STAD-US 20 1444988 1444988 single base substitution T C intron_variant STAD-US 20 1444988 1444988 single base substitution T C synonymous_variant R63R 189A>G STAD-US 20 1456815 1456815 single base substitution C T upstream_gene_variant STAD-US 20 1459011 1459011 single base substitution G A upstream_gene_variant UCEC-US 20 1426309 1426309 single base substitution A G downstream_gene_variant UCEC-US 20 1426309 1426309 single base substitution A G splice_donor_variant UCEC-US 20 1426360 1426360 single base substitution G A 3_prime_UTR_variant UCEC-US 20 1426360 1426360 single base substitution G A exon_variant UCEC-US 20 1426360 1426360 single base substitution G A missense_variant R190W 568C>T UCEC-US 20 1426360 1426360 single base substitution G A missense_variant R270W 808C>T UCEC-US 20 1426360 1426360 single base substitution G A missense_variant R301W 901C>T UCEC-US 20 1426360 1426360 single base substitution G A missense_variant R303W 907C>T UCEC-US 20 1433203 1433203 single base substitution G A 3_prime_UTR_variant UCEC-US 20 1433203 1433203 single base substitution G A downstream_gene_variant UCEC-US 20 1433203 1433203 single base substitution G A exon_variant UCEC-US 20 1433203 1433203 single base substitution G A synonymous_variant D129D 387C>T UCEC-US 20 1433203 1433203 single base substitution G A synonymous_variant D209D 627C>T UCEC-US 20 1433203 1433203 single base substitution G A synonymous_variant D240D 720C>T UCEC-US 20 1433203 1433203 single base substitution G A synonymous_variant D242D 726C>T UCEC-US 20 1433782 1433782 single base substitution G T 3_prime_UTR_variant UCEC-US 20 1433782 1433782 single base substitution G T downstream_gene_variant UCEC-US 20 1433782 1433782 single base substitution G T exon_variant UCEC-US 20 1433782 1433782 single base substitution G T missense_variant H150N 448C>A UCEC-US 20 1433782 1433782 single base substitution G T missense_variant H181N 541C>A UCEC-US 20 1433782 1433782 single base substitution G T missense_variant H183N 547C>A UCEC-US 20 1433782 1433782 single base substitution G T missense_variant H70N 208C>A UCEC-US 20 1445016 1445016 single base substitution G A exon_variant UCEC-US 20 1445016 1445016 single base substitution G A intron_variant UCEC-US 20 1445016 1445016 single base substitution G A missense_variant S54L 161C>T UCEC-US 20 1456877 1456877 single base substitution C A upstream_gene_variant UCEC-US 20 1457957 1457957 single base substitution G T upstream_gene_variant UCEC-US 20 1458042 1458042 single base substitution G T upstream_gene_variant UCEC-US 20 1458989 1458989 single base substitution T C upstream_gene_variant UCEC-US 20 1459010 1459010 single base substitution C T upstream_gene_variant UCEC-US 20 1459183 1459183 single base substitution T C upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 587374 COSM1217948 c.8C>T p.A3V Substitution - Missense 20:1466817-1466817 - T3091 COSM4708359 c.957C>T p.S319S Substitution - coding silent 20:1443905-1443905 - TCGA-A7-A0DA-01 COSM443465 c.482C>T p.P161L Substitution - Missense 20:1454268-1454268 - TCGA-BS-A0UV-01 COSM1024649 c.541C>A p.H181N Substitution - Missense 20:1453137-1453137 - RK019_C01 COSM1632193 c.284A>G p.Y95C Substitution - Missense 20:1455127-1455127 - Gp5D COSM2703448 c.883A>G p.T295A Substitution - Missense 20:1445733-1445733 - HCT15 COSM2703447 c.884C>T p.T295I Substitution - Missense 20:1445732-1445732 - TCGA-BS-A0TC-01 COSM178169 c.161C>T p.S54L Substitution - Missense 20:1464371-1464371 - TCGA-32-2634-01 COSM3404940 c.1063C>T p.L355L Substitution - coding silent 20:1443799-1443799 - TCGA-A2-A25E-01 COSM1483444 c.310C>G p.Q104E Substitution - Missense 20:1455101-1455101 - SA065 COSM213162 c.253G>A p.D85N Substitution - Missense 20:1458225-1458225 - LS180 COSM2703452 c.796delC p.Q266fs*3 Deletion - Frameshift 20:1445820-1445820 - TCGA-EP-A2KC-01 COSM4913709 c.647G>T p.G216V Substitution - Missense 20:1453031-1453031 - 2492723 COSM178169 c.161C>T p.S54L Substitution - Missense 20:1464371-1464371 - LAU50_2 COSM235067 c.1044G>A p.L348L Substitution - coding silent 20:1443818-1443818 - ESCC_79 COSM5635633 c.307G>A p.G103R Substitution - Missense 20:1455104-1455104 - TCGA-39-5036-01 COSM723607 c.421C>G p.P141A Substitution - Missense 20:1454990-1454990 - OSCC-GB_00870111 COSM4881540 c.205G>C p.D69H Substitution - Missense 20:1458273-1458273 - TCGA-AZ-6601-01 COSM1410447 c.116C>T p.A39V Substitution - Missense 20:1464416-1464416 - 041T COSM1729279 c.202A>T p.S68C Substitution - Missense 20:1464330-1464330 - TCGA-F4-6703-01 COSM1410434 c.870C>T p.D290D Substitution - coding silent 20:1445746-1445746 - 2492722 COSM178169 c.161C>T p.S54L Substitution - Missense 20:1464371-1464371 - V-PH-01T COSM4770255 c.204T>C p.S68S Substitution - coding silent 20:1458274-1458274 - TCGA-BC-A3KF-01 COSM4927840 c.449T>C p.F150S Substitution - Missense 20:1454301-1454301 - TCGA-F5-6814-01 COSM178169 c.161C>T p.S54L Substitution - Missense 20:1464371-1464371 - 2492720 COSM178169 c.161C>T p.S54L Substitution - Missense 20:1464371-1464371 - TCGA-JX-A3Q0-01 COSM4824429 c.490G>A p.E164K Substitution - Missense 20:1454260-1454260 - 2492723 COSM5724365 c.615C>T p.S205S Substitution - coding silent 20:1453063-1453063 - Pat_59_B COSM5857422 c.746C>T p.A249V Substitution - Missense 20:1452532-1452532 - LS174T COSM2703452 c.796delC p.Q266fs*3 Deletion - Frameshift 20:1445820-1445820 - 8057726 COSM218624 c.596G>A p.R199K Substitution - Missense 20:1453082-1453082 - TCGA-AC-A23H-01 COSM3840443 c.179C>T p.S60L Substitution - Missense 20:1464353-1464353 - T3202 COSM4708362 c.641G>A p.R214H Substitution - Missense 20:1453037-1453037 - S02403 COSM5700462 c.108C>A p.I36I Substitution - coding silent 20:1464424-1464424 - COLO205 COSM1681488 c.640C>T p.R214C Substitution - Missense 20:1453038-1453038 - 2492721 COSM178169 c.161C>T p.S54L Substitution - Missense 20:1464371-1464371 - 2492722 COSM5724365 c.615C>T p.S205S Substitution - coding silent 20:1453063-1453063 - S00936 COSM313375 c.588A>T p.G196G Substitution - coding silent 20:1453090-1453090 - 2492721 COSM5724365 c.615C>T p.S205S Substitution - coding silent 20:1453063-1453063 - TCGA-EJ-7123-01 COSM3673073 c.579G>T p.L193L Substitution - coding silent 20:1453099-1453099 - TCGA-G2-A2EO-01 COSM1307160 c.55G>T p.E19* Substitution - Nonsense 20:1466770-1466770 - TCGA-EW-A3E8-01 COSM3840441 c.644G>A p.R215K Substitution - Missense 20:1453034-1453034 - T578 COSM178169 c.161C>T p.S54L Substitution - Missense 20:1464371-1464371 - EGC15 COSM5057162 c.467G>A p.R156H Substitution - Missense 20:1454283-1454283 - T2940 COSM4708364 c.325C>T p.P109S Substitution - Missense 20:1455086-1455086 - 8050939 COSM1410447 c.116C>T p.A39V Substitution - Missense 20:1464416-1464416 - PD7219a COSM5775146 c.18G>T p.Q6H Substitution - Missense 20:1466807-1466807 - TCGA-AP-A051-01 COSM1024648 c.720C>T p.D240D Substitution - coding silent 20:1452558-1452558 - TCGA-EE-A2MP-06 COSM3544190 c.1095C>T p.I365I Substitution - coding silent 20:1443767-1443767 - TCGA-AA-3527-01 COSM291823 c.109G>A p.A37T Substitution - Missense 20:1464423-1464423 - ICGC_0035 COSM218624 c.596G>A p.R199K Substitution - Missense 20:1453082-1453082 - TCGA-AZ-6600-01 COSM1410431 c.1069G>T p.E357* Substitution - Nonsense 20:1443793-1443793 - B102-Tumor COSM3933783 c.926T>G p.V309G Substitution - Missense 20:1445690-1445690 - CHC892T COSM4797625 c.566G>A p.S189N Substitution - Missense 20:1453112-1453112 - PD7219a COSM5794446 c.58G>C p.E20Q Substitution - Missense 20:1466767-1466767 - PDA_077 COSM5002289 c.547G>T p.V183L Substitution - Missense 20:1453131-1453131 - 53M COSM5595003 c.963C>T p.I321I Substitution - coding silent 20:1443899-1443899 - TCGA-AA-3663-01 COSM1410433 c.941A>G p.H314R Substitution - Missense 20:1445675-1445675 - PD11393a COSM5773186 c.165G>A p.Q55Q Substitution - coding silent 20:1464367-1464367 - H1993 COSM1196803 c.985C>T p.R329W Substitution - Missense 20:1443877-1443877 - RK259_C01 COSM4944616 c.376G>T p.A126S Substitution - Missense 20:1455035-1455035 - COLO201 COSM1681488 c.640C>T p.R214C Substitution - Missense 20:1453038-1453038 - T2269 COSM4708361 c.667C>T p.R223W Substitution - Missense 20:1452611-1452611 - 4436_PT COSM5755539 c.893T>C p.I298T Substitution - Missense 20:1445723-1445723 - TCGA-AZ-4315-01 COSM178169 c.161C>T p.S54L Substitution - Missense 20:1464371-1464371 - 2492720 COSM5724365 c.615C>T p.S205S Substitution - coding silent 20:1453063-1453063 - TCGA-JX-A3Q0-01 COSM4823993 c.484G>A p.E162K Substitution - Missense 20:1454266-1454266 - TCGA-HT-7469-01 COSM2703506 c.132C>T p.D44D Substitution - coding silent 20:1464400-1464400 - PT36 COSM5916827 c.647G>A p.G216E Substitution - Missense 20:1453031-1453031 - I2L-P8-Tumor-Organoid COSM1681488 c.640C>T p.R214C Substitution - Missense 20:1453038-1453038 - I2L-P8-Tumor-Biopsy COSM1681488 c.640C>T p.R214C Substitution - Missense 20:1453038-1453038 - TCGA-EB-A24D-01 COSM3544191 c.894C>T p.I298I Substitution - coding silent 20:1445722-1445722 - ESO-752 COSM1259604 c.298G>C p.E100Q Substitution - Missense 20:1455113-1455113 - HCC2998 COSM2703446 c.899T>G p.I300S Substitution - Missense 20:1445717-1445717 - H2073 COSM1196803 c.985C>T p.R329W Substitution - Missense 20:1443877-1443877 - TCGA-CG-5733-01 COSM4096739 c.189A>G p.R63R Substitution - coding silent 20:1464343-1464343 - ESCC-D17 COSM5045653 c.446C>T p.P149L Substitution - Missense 20:1454304-1454304 - COLO-205 COSM1681488 c.640C>T p.R214C Substitution - Missense 20:1453038-1453038 - CSCC-38-T COSM1681488 c.640C>T p.R214C Substitution - Missense 20:1453038-1453038 - TCGA-BS-A0TC-01 COSM178166 c.901C>T p.R301W Substitution - Missense 20:1445715-1445715 - UD-SCC-2 COSM4289658 c.552G>C p.L184F Substitution - Missense 20:1453126-1453126 - TCGA-AP-A059-01 COSM178166 c.901C>T p.R301W Substitution - Missense 20:1445715-1445715 - PT49 COSM5936610 c.175A>T p.S59C Substitution - Missense 20:1464357-1464357 - CHC892T COSM4797625 c.566G>A p.S189N Substitution - Missense 20:1453112-1453112 - TCGA-CH-5789-01 COSM1130696 c.647+1G>A p.? Unknown 20:1453030-1453030 - TCGA-C4-A0F6-01 COSM419043 c.743G>A p.G248E Substitution - Missense 20:1452535-1452535 - sysucc-311T COSM178166 c.901C>T p.R301W Substitution - Missense 20:1445715-1445715 - T2932 COSM4708363 c.406C>T p.R136* Substitution - Nonsense 20:1455005-1455005 - TCGA-DB-5281-01 COSM3972432 c.871G>A p.E291K Substitution - Missense 20:1445745-1445745 - PT41 COSM5924748 c.445-8C>T p.? Unknown 20:1454313-1454313 - TCGA-EJ-7782-01 COSM2703506 c.132C>T p.D44D Substitution - coding silent 20:1464400-1464400 - 61 COSM5741781 c.92G>A p.G31D Substitution - Missense 20:1466733-1466733 - TCGA-DK-A3IS-01 COSM1307159 c.732G>T p.V244V Substitution - coding silent 20:1452546-1452546 - T3610 COSM1024648 c.720C>T p.D240D Substitution - coding silent 20:1452558-1452558 - TCGA-FW-A3TU-06 COSM3544206 c.82G>A p.E28K Substitution - Missense 20:1466743-1466743 - B5-Tumor COSM3933783 c.926T>G p.V309G Substitution - Missense 20:1445690-1445690 - DLD1 COSM2703447 c.884C>T p.T295I Substitution - Missense 20:1445732-1445732 - TCGA-AN-A046-01 COSM3840442 c.302G>T p.R101I Substitution - Missense 20:1455109-1455109 - 8013239 COSM218624 c.596G>A p.R199K Substitution - Missense 20:1453082-1453082 - TCGA-HU-A4GQ-01 COSM1410434 c.870C>T p.D290D Substitution - coding silent 20:1445746-1445746 - HCT8 COSM2703447 c.884C>T p.T295I Substitution - Missense 20:1445732-1445732 - 10-P1058 COSM4581634 c.660A>T p.A220A Substitution - coding silent 20:1452618-1452618 - TCGA-G9-6342-01 COSM3673072 c.640C>A p.R214S Substitution - Missense 20:1453038-1453038 - TCGA-B5-A0JY-01 COSM1024635 c.950+2T>C p.? Unknown 20:1445664-1445664 - T2269 COSM4708360 c.867C>T p.I289I Substitution - coding silent 20:1445749-1445749 - RK019_C COSM1632193 c.284A>G p.Y95C Substitution - Missense 20:1455127-1455127 - sysucc-311T COSM5464868 c.123T>G p.F41L Substitution - Missense 20:1464409-1464409 - TCGA-FP-A4BE-01 COSM4096729 c.902G>A p.R301Q Substitution - Missense 20:1445714-1445714 - TCGA-EI-6917-01 COSM178166 c.901C>T p.R301W Substitution - Missense 20:1445715-1445715 - S00832 COSM5660887 c.139G>T p.D47Y Substitution - Missense 20:1464393-1464393 - C91 COSM3972432 c.871G>A p.E291K Substitution - Missense 20:1445745-1445745 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.12851;Hs.12865 20p13 606610 2438129|CGAP|BC002801|A/G|coding|Asp290Asn|943|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.D352Y c.1054G>T 20 1424459 LUAD C A Nonsense p.E19* c.55G>T 20 1447415 BLCA C A Synonymous p.V246V c.738G>T 20 1433191 BLCA CC TT Missense p.D21N c.60_61delinsAA 20 1447409 CM C G 3-UTRSNV . c.1116+1010G>C 20 1423387 HC C G Missense p.E102Q c.304G>C 20 1435758 ESCA C T Missense p.A37T c.109G>A 20 1445068 COREAD C T Missense p.D85N c.253G>A 20 1438870 BRCA C T Missense p.E293K c.877G>A 20 1426390 LGG C T Missense p.G250E c.749G>A 20 1433180 BLCA C T Missense p.R201K c.602G>A 20 1433727 PAAD C T SpliceDonorSNV . c.653+1G>A 20 1433675 PRAD G A Missense p.P163L c.488C>T 20 1434913 BRCA G A Missense p.R241W c.721C>T 20 1433208 HNSC G A Missense p.R303W c.907C>T 20 1426360 CM G A Missense p.R303W c.907C>T 20 1426360 HNSC G A Missense p.R303W c.907C>T 20 1426360 UCEC G A Missense p.S54L c.161C>T 20 1445016 UCEC G A Synonymous p.D44D c.132C>T 20 1445045 LGG G A Synonymous p.I300I c.900C>T 20 1426367 CM G A Synonymous p.I367I c.1101C>T 20 1424412 CM G A Synonymous p.L357L c.1069C>T 20 1424444 GBM G C Missense p.P143A c.427C>G 20 1435635 LUSC G C Missense p.Q106E c.316C>G 20 1435746 BRCA T A Synonymous p.G198G c.594A>T 20 1433735 SCLC T C Missense p.Y97C c.290A>G 20 1435772 HC T C Synonymous p.R63R c.189A>G 20 1444988 STAD