Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 20 3090889 3090889 + Nonsense_Mutation SNP C C A TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr20:3090889C>A c.1489G>T c.(1489-1491)Gag>Tag p.E497* BLCA 20 3090835 3090835 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr20:3090835C>T c.1543G>A c.(1543-1545)Gag>Aag p.E515K BLCA 20 3102035 3102035 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr20:3102035G>A c.1250C>T c.(1249-1251)tCg>tTg p.S417L BLCA 20 3102035 3102035 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 g.chr20:3102035G>A c.1250C>T c.(1249-1251)tCg>tTg p.S417L BRCA 20 3096074 3096074 + Missense_Mutation SNP C C T TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 g.chr20:3096074C>T c.1294G>A c.(1294-1296)Gaa>Aaa p.E432K CESC 20 3090896 3090896 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr20:3090896G>C c.1482C>G c.(1480-1482)ttC>ttG p.F494L CESC 20 3102562 3102562 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr20:3102562C>T c.723G>A c.(721-723)gaG>gaA p.E241E CESC 20 3102944 3102944 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 g.chr20:3102944G>A c.341C>T c.(340-342)gCg>gTg p.A114V CESC 20 3103193 3103193 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr20:3103193G>C c.92C>G c.(91-93)tCt>tGt p.S31C CHOL 20 3102954 3102954 + Missense_Mutation SNP C C T TCGA-W5-AA2X-01A-11D-A417-09 TCGA-W5-AA2X-10A-01D-A41A-09 g.chr20:3102954C>T c.331G>A c.(331-333)Gac>Aac p.D111N COAD 20 3090903 3090903 + Missense_Mutation SNP G G T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr20:3090903G>T c.1475C>A c.(1474-1476)cCc>cAc p.P492H COAD 20 3102357 3102357 + Frame_Shift_Del DEL C C - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr20:3102357delC c.928delG c.(928-930)gtafs p.V310fs COAD 20 3102420 3102420 + Silent SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr20:3102420G>A c.865C>T c.(865-867)Ctg>Ttg p.L289L COAD 20 3102655 3102655 + Silent SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr20:3102655C>T c.630G>A c.(628-630)ctG>ctA p.L210L COAD 20 3102687 3102687 + Missense_Mutation SNP T T C TCGA-AA-3848-01A-01W-0900-09 TCGA-AA-3848-10A-01W-0900-09 g.chr20:3102687T>C c.598A>G c.(598-600)Acc>Gcc p.T200A COAD 20 3102778 3102778 + Silent SNP G G A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr20:3102778G>A c.507C>T c.(505-507)caC>caT p.H169H COAD 20 3102943 3102943 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:3102943C>T c.342G>A c.(340-342)gcG>gcA p.A114A COAD 20 3103213 3103213 + Silent SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr20:3103213G>A c.72C>T c.(70-72)taC>taT p.Y24Y COADREAD 20 3090903 3090903 + Missense_Mutation SNP G G T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr20:3090903G>T c.1475C>A c.(1474-1476)cCc>cAc p.P492H COADREAD 20 3102194 3102194 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr20:3102194C>A c.1091G>T c.(1090-1092)aGg>aTg p.R364M COADREAD 20 3102357 3102357 + Frame_Shift_Del DEL C C - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr20:3102357delC c.928delG c.(928-930)gtafs p.V310fs COADREAD 20 3102420 3102420 + Silent SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr20:3102420G>A c.865C>T c.(865-867)Ctg>Ttg p.L289L COADREAD 20 3102535 3102535 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr20:3102535C>A c.750G>T c.(748-750)caG>caT p.Q250H COADREAD 20 3102655 3102655 + Silent SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr20:3102655C>T c.630G>A c.(628-630)ctG>ctA p.L210L COADREAD 20 3102687 3102687 + Missense_Mutation SNP T T C TCGA-AA-3848-01A-01W-0900-09 TCGA-AA-3848-10A-01W-0900-09 g.chr20:3102687T>C c.598A>G c.(598-600)Acc>Gcc p.T200A COADREAD 20 3102778 3102778 + Silent SNP G G A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr20:3102778G>A c.507C>T c.(505-507)caC>caT p.H169H COADREAD 20 3102794 3102794 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr20:3102794G>T c.491C>A c.(490-492)gCt>gAt p.A164D COADREAD 20 3102943 3102943 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:3102943C>T c.342G>A c.(340-342)gcG>gcA p.A114A COADREAD 20 3103213 3103213 + Silent SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr20:3103213G>A c.72C>T c.(70-72)taC>taT p.Y24Y COADREAD 20 3103974 3103974 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr20:3103974C>A c.38G>T c.(37-39)aGa>aTa p.R13I DLBC 20 3102636 3102636 + Missense_Mutation SNP G G C TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr20:3102636G>C c.649C>G c.(649-651)Ctg>Gtg p.L217V ESCA 20 3102655 3102655 + Silent SNP C C A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 g.chr20:3102655C>A c.630G>T c.(628-630)ctG>ctT p.L210L HNSC 20 3090766 3090766 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr20:3090766G>A c.1612C>T c.(1612-1614)Cgg>Tgg p.R538W HNSC 20 3095970 3095970 + Missense_Mutation SNP C C A TCGA-UP-A6WW-01A-12D-A34J-08 TCGA-UP-A6WW-10B-01D-A34M-08 g.chr20:3095970C>A c.1398G>T c.(1396-1398)tgG>tgT p.W466C HNSC 20 3102039 3102039 + Missense_Mutation SNP A A G TCGA-BB-4223-01A-01D-1434-08 TCGA-BB-4223-10A-01D-1434-08 g.chr20:3102039A>G c.1246T>C c.(1246-1248)Tgc>Cgc p.C416R HNSC 20 3102422 3102422 + Missense_Mutation SNP G G A TCGA-HD-8314-01A-11D-2394-08 TCGA-HD-8314-10A-01D-2394-08 g.chr20:3102422G>A c.863C>T c.(862-864)aCa>aTa p.T288I KIPAN 20 3090943 3090943 + Silent SNP G G A TCGA-B9-4114-01A-01D-1252-08 TCGA-B9-4114-10A-01D-1252-08 g.chr20:3090943G>A c.1435C>T c.(1435-1437)Ctg>Ttg p.L479L KIPAN 20 3102446 3102446 + Nonsense_Mutation SNP G G T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 g.chr20:3102446G>T c.839C>A c.(838-840)tCa>tAa p.S280* KIPAN 20 3102965 3102965 + Missense_Mutation SNP G G A TCGA-A4-7583-01A-11D-2136-08 TCGA-A4-7583-10A-01D-2136-08 g.chr20:3102965G>A c.320C>T c.(319-321)cCa>cTa p.P107L KIPAN 20 3103217 3103217 + Missense_Mutation SNP C C T TCGA-CZ-5468-01A-01D-1501-10 TCGA-CZ-5468-11A-01D-1501-10 g.chr20:3103217C>T c.68G>A c.(67-69)gGt>gAt p.G23D KIRC 20 3102446 3102446 + Nonsense_Mutation SNP G G T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 g.chr20:3102446G>T c.839C>A c.(838-840)tCa>tAa p.S280* KIRC 20 3103217 3103217 + Missense_Mutation SNP C C T TCGA-CZ-5468-01A-01D-1501-10 TCGA-CZ-5468-11A-01D-1501-10 g.chr20:3103217C>T c.68G>A c.(67-69)gGt>gAt p.G23D KIRP 20 3090943 3090943 + Silent SNP G G A TCGA-B9-4114-01A-01D-1252-08 TCGA-B9-4114-10A-01D-1252-08 g.chr20:3090943G>A c.1435C>T c.(1435-1437)Ctg>Ttg p.L479L KIRP 20 3102965 3102965 + Missense_Mutation SNP G G A TCGA-A4-7583-01A-11D-2136-08 TCGA-A4-7583-10A-01D-2136-08 g.chr20:3102965G>A c.320C>T c.(319-321)cCa>cTa p.P107L LIHC 20 3102753 3102753 + Missense_Mutation SNP T T C TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr20:3102753T>C c.532A>G c.(532-534)Acc>Gcc p.T178A LIHC 20 3102976 3102976 + Silent SNP G G A TCGA-CC-A3MB-01A-11D-A20W-10 TCGA-CC-A3MB-10A-01D-A20W-10 g.chr20:3102976G>A c.309C>T c.(307-309)ggC>ggT p.G103G LUAD 20 3095974 3095974 + Missense_Mutation SNP G G T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 g.chr20:3095974G>T c.1394C>A c.(1393-1395)tCc>tAc p.S465Y LUAD 20 3102242 3102242 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr20:3102242G>A c.1043C>T c.(1042-1044)aCg>aTg p.T348M LUAD 20 3102754 3102754 + Silent SNP G G T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 g.chr20:3102754G>T c.531C>A c.(529-531)atC>atA p.I177I LUAD 20 3102775 3102775 + Silent SNP C C A TCGA-44-3398-01A-01D-1105-08 TCGA-44-3398-10A-01D-1105-08 g.chr20:3102775C>A c.510G>T c.(508-510)gtG>gtT p.V170V LUAD 20 3102805 3102805 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 g.chr20:3102805C>A c.480G>T c.(478-480)tgG>tgT p.W160C LUAD 20 3102954 3102954 + Missense_Mutation SNP C C T TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr20:3102954C>T c.331G>A c.(331-333)Gac>Aac p.D111N LUSC 20 3095978 3095978 + Missense_Mutation SNP T T C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 g.chr20:3095978T>C c.1390A>G c.(1390-1392)Act>Gct p.T464A OV 20 3102634 3102634 + Silent SNP C C T TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 g.chr20:3102634C>T c.651G>A c.(649-651)ctG>ctA p.L217L READ 20 3102194 3102194 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr20:3102194C>A c.1091G>T c.(1090-1092)aGg>aTg p.R364M READ 20 3102535 3102535 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr20:3102535C>A c.750G>T c.(748-750)caG>caT p.Q250H READ 20 3102794 3102794 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr20:3102794G>T c.491C>A c.(490-492)gCt>gAt p.A164D READ 20 3103974 3103974 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr20:3103974C>A c.38G>T c.(37-39)aGa>aTa p.R13I SKCM 20 3102730 3102730 + Silent SNP G G A TCGA-ER-A19M-06A-61D-A23B-08 TCGA-ER-A19M-10A-01D-A23B-08 g.chr20:3102730G>A c.555C>T c.(553-555)atC>atT p.I185I SKCM 20 3103990 3103990 + Missense_Mutation SNP G G A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr20:3103990G>A c.22C>T c.(22-24)Cca>Tca p.P8S

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 3128441 3128441 single base substitution G A intron_variant BLCA-US 20 3090835 3090835 single base substitution C T missense_variant E461K 1381G>A BLCA-US 20 3090835 3090835 single base substitution C T missense_variant E515K 1543G>A BLCA-US 20 3102035 3102035 single base substitution G A downstream_gene_variant BLCA-US 20 3102035 3102035 single base substitution G A missense_variant S417L 1250C>T BLCA-US 20 3127517 3127517 single base substitution C G intron_variant BLCA-US 20 3128235 3128235 single base substitution G C intron_variant BLCA-US 20 3128585 3128585 single base substitution C T intron_variant BRCA-EU 20 3084353 3084353 single base substitution C T downstream_gene_variant BRCA-EU 20 3084908 3084908 single base substitution C T downstream_gene_variant BRCA-EU 20 3085272 3085272 single base substitution C G downstream_gene_variant BRCA-EU 20 3086217 3086217 single base substitution G T downstream_gene_variant BRCA-EU 20 3086865 3086865 single base substitution C G downstream_gene_variant BRCA-EU 20 3087490 3087490 single base substitution C A downstream_gene_variant BRCA-EU 20 3087972 3087972 single base substitution G A downstream_gene_variant BRCA-EU 20 3089453 3089453 single base substitution C A 3_prime_UTR_variant BRCA-EU 20 3091138 3091138 single base substitution G A intron_variant BRCA-EU 20 3092692 3092692 single base substitution A G intron_variant BRCA-EU 20 3093395 3093395 single base substitution G A intron_variant BRCA-EU 20 3095439 3095439 insertion of <=200bp - A intron_variant BRCA-EU 20 3096355 3096355 single base substitution C T intron_variant BRCA-EU 20 3098806 3098806 deletion of <=200bp A - downstream_gene_variant BRCA-EU 20 3098806 3098806 deletion of <=200bp A - intron_variant BRCA-EU 20 3099403 3099403 single base substitution G A downstream_gene_variant BRCA-EU 20 3099403 3099403 single base substitution G A intron_variant BRCA-EU 20 3099696 3099696 single base substitution C A downstream_gene_variant BRCA-EU 20 3099696 3099696 single base substitution C A intron_variant BRCA-EU 20 3100463 3100463 single base substitution G A downstream_gene_variant BRCA-EU 20 3100463 3100463 single base substitution G A intron_variant BRCA-EU 20 3100640 3100640 single base substitution C T downstream_gene_variant BRCA-EU 20 3100640 3100640 single base substitution C T intron_variant BRCA-EU 20 3101308 3101308 single base substitution G C downstream_gene_variant BRCA-EU 20 3101308 3101308 single base substitution G C intron_variant BRCA-EU 20 3101780 3101780 single base substitution G A downstream_gene_variant BRCA-EU 20 3101780 3101780 single base substitution G A intron_variant BRCA-EU 20 3102197 3102197 single base substitution T C downstream_gene_variant BRCA-EU 20 3102197 3102197 single base substitution T C missense_variant K363R 1088A>G BRCA-EU 20 3104325 3104325 single base substitution G T intron_variant BRCA-EU 20 3104692 3104692 single base substitution G A intron_variant BRCA-EU 20 3105210 3105210 single base substitution G T intron_variant BRCA-EU 20 3105442 3105442 single base substitution G A intron_variant BRCA-EU 20 3108556 3108556 single base substitution G A intron_variant BRCA-EU 20 3112806 3112806 single base substitution A T intron_variant BRCA-EU 20 3114622 3114622 single base substitution C G intron_variant BRCA-EU 20 3114939 3114939 single base substitution T C intron_variant BRCA-EU 20 3116920 3116920 single base substitution G A intron_variant BRCA-EU 20 3120458 3120458 single base substitution C G intron_variant BRCA-EU 20 3122482 3122482 single base substitution G A intron_variant BRCA-EU 20 3122885 3122885 single base substitution A C intron_variant BRCA-EU 20 3123614 3123614 single base substitution G A intron_variant BRCA-EU 20 3124425 3124425 single base substitution G C intron_variant BRCA-EU 20 3124587 3124587 single base substitution G C intron_variant BRCA-EU 20 3124892 3124892 single base substitution G A intron_variant BRCA-EU 20 3129176 3129176 single base substitution A T intron_variant BRCA-EU 20 3129460 3129460 single base substitution G A intron_variant BRCA-EU 20 3131255 3131255 single base substitution G A intron_variant BRCA-EU 20 3133257 3133257 single base substitution G C intron_variant BRCA-EU 20 3133411 3133411 single base substitution G A intron_variant BRCA-EU 20 3135339 3135339 insertion of <=200bp - A intron_variant BRCA-EU 20 3136073 3136073 single base substitution A C intron_variant BRCA-EU 20 3142269 3142269 single base substitution C G upstream_gene_variant BRCA-EU 20 3142324 3142324 single base substitution T C upstream_gene_variant BRCA-EU 20 3143096 3143096 single base substitution C G upstream_gene_variant BRCA-EU 20 3143300 3143300 single base substitution G A upstream_gene_variant BRCA-EU 20 3143474 3143474 single base substitution T C upstream_gene_variant BRCA-EU 20 3144235 3144235 single base substitution G A upstream_gene_variant BRCA-EU 20 3145377 3145377 single base substitution G A upstream_gene_variant BRCA-FR 20 3084908 3084908 single base substitution C T downstream_gene_variant BRCA-FR 20 3086692 3086692 single base substitution G T downstream_gene_variant BRCA-FR 20 3087328 3087328 single base substitution A G downstream_gene_variant BRCA-FR 20 3091077 3091077 single base substitution C T intron_variant BRCA-FR 20 3094553 3094553 single base substitution A T intron_variant BRCA-FR 20 3094580 3094580 single base substitution A G intron_variant BRCA-FR 20 3101308 3101308 single base substitution G C downstream_gene_variant BRCA-FR 20 3101308 3101308 single base substitution G C intron_variant BRCA-FR 20 3114622 3114622 single base substitution C G intron_variant BRCA-FR 20 3131255 3131255 single base substitution G A intron_variant BRCA-FR 20 3144235 3144235 single base substitution G A upstream_gene_variant BRCA-KR 20 3145506 3145506 single base substitution T G upstream_gene_variant BRCA-UK 20 3112806 3112806 single base substitution A T intron_variant BRCA-UK 20 3129380 3129380 single base substitution C T intron_variant BRCA-US 20 3096074 3096074 single base substitution C T intron_variant BRCA-US 20 3096074 3096074 single base substitution C T missense_variant E432K 1294G>A BRCA-US 20 3127664 3127664 single base substitution A C intron_variant BRCA-US 20 3128000 3128000 insertion of <=200bp - C intron_variant BRCA-US 20 3128515 3128515 single base substitution G A intron_variant BRCA-US 20 3129586 3129586 single base substitution G A intron_variant BRCA-US 20 3129595 3129595 single base substitution T G intron_variant BTCA-JP 20 3102728 3102728 single base substitution G T downstream_gene_variant BTCA-JP 20 3102728 3102728 single base substitution G T missense_variant P186H 557C>A BTCA-JP 20 3103826 3103826 single base substitution T A intron_variant BTCA-JP 20 3145386 3145386 single base substitution C T upstream_gene_variant BTCA-JP 20 3145478 3145478 single base substitution C A upstream_gene_variant CESC-US 20 3090896 3090896 single base substitution G C missense_variant F440L 1320C>G CESC-US 20 3090896 3090896 single base substitution G C missense_variant F494L 1482C>G CESC-US 20 3091040 3091040 single base substitution C T intron_variant CESC-US 20 3102562 3102562 single base substitution C T downstream_gene_variant CESC-US 20 3102562 3102562 single base substitution C T synonymous_variant E241E 723G>A CESC-US 20 3102944 3102944 single base substitution G A downstream_gene_variant CESC-US 20 3102944 3102944 single base substitution G A missense_variant A114V 341C>T CESC-US 20 3103193 3103193 single base substitution G C missense_variant S31C 92C>G CESC-US 20 3128327 3128327 single base substitution C A intron_variant CESC-US 20 3129658 3129658 single base substitution G A intron_variant CLLE-ES 20 3083423 3083423 single base substitution C T downstream_gene_variant CLLE-ES 20 3093859 3093859 single base substitution A C intron_variant CLLE-ES 20 3108292 3108292 single base substitution G A intron_variant COAD-US 20 3090942 3090942 single base substitution A G missense_variant L425P 1274T>C COAD-US 20 3090942 3090942 single base substitution A G missense_variant L479P 1436T>C COAD-US 20 3102357 3102357 deletion of <=200bp C - downstream_gene_variant COAD-US 20 3102357 3102357 deletion of <=200bp C - frameshift_variant V310 COAD-US 20 3102943 3102943 single base substitution C T downstream_gene_variant COAD-US 20 3102943 3102943 single base substitution C T synonymous_variant A114A 342G>A COAD-US 20 3128517 3128517 single base substitution G A intron_variant COAD-US 20 3128578 3128578 single base substitution A C intron_variant COAD-US 20 3128620 3128620 single base substitution G A intron_variant COAD-US 20 3128873 3128876 deletion of <=200bp CTAG - intron_variant COAD-US 20 3128920 3128920 insertion of <=200bp - A intron_variant COAD-US 20 3129370 3129370 single base substitution C T intron_variant COAD-US 20 3145155 3145155 single base substitution T A upstream_gene_variant COAD-US 20 3145186 3145186 single base substitution C T upstream_gene_variant COAD-US 20 3145236 3145236 single base substitution C T upstream_gene_variant COCA-CN 20 3102034 3102034 single base substitution C T downstream_gene_variant COCA-CN 20 3102034 3102034 single base substitution C T synonymous_variant S417S 1251G>A COCA-CN 20 3103051 3103051 single base substitution G C synonymous_variant V78V 234C>G COCA-CN 20 3106461 3106461 single base substitution A G intron_variant COCA-CN 20 3127329 3127329 single base substitution G A intron_variant COCA-CN 20 3127789 3127789 single base substitution T C intron_variant COCA-CN 20 3127848 3127848 single base substitution G A intron_variant COCA-CN 20 3128844 3128844 single base substitution A G intron_variant COCA-CN 20 3145160 3145160 single base substitution G A upstream_gene_variant COCA-CN 20 3145398 3145398 single base substitution C T upstream_gene_variant COCA-CN 20 3145591 3145591 single base substitution C T upstream_gene_variant ESAD-UK 20 3083885 3083885 single base substitution C T downstream_gene_variant ESAD-UK 20 3086160 3086160 single base substitution A G downstream_gene_variant ESAD-UK 20 3086239 3086239 single base substitution G C downstream_gene_variant ESAD-UK 20 3086397 3086397 single base substitution G A downstream_gene_variant ESAD-UK 20 3087066 3087066 single base substitution G A downstream_gene_variant ESAD-UK 20 3087279 3087279 single base substitution C T downstream_gene_variant ESAD-UK 20 3090935 3090935 single base substitution G A synonymous_variant P427P 1281C>T ESAD-UK 20 3090935 3090935 single base substitution G A synonymous_variant P481P 1443C>T ESAD-UK 20 3092176 3092176 single base substitution T A intron_variant ESAD-UK 20 3092598 3092598 single base substitution G A intron_variant ESAD-UK 20 3092818 3092818 single base substitution G A intron_variant ESAD-UK 20 3093598 3093598 single base substitution C T intron_variant ESAD-UK 20 3098937 3098937 single base substitution G A downstream_gene_variant ESAD-UK 20 3098937 3098937 single base substitution G A intron_variant ESAD-UK 20 3099429 3099429 single base substitution A T downstream_gene_variant ESAD-UK 20 3099429 3099429 single base substitution A T intron_variant ESAD-UK 20 3099895 3099895 single base substitution G A downstream_gene_variant ESAD-UK 20 3099895 3099895 single base substitution G A intron_variant ESAD-UK 20 3100317 3100317 single base substitution T C downstream_gene_variant ESAD-UK 20 3100317 3100317 single base substitution T C intron_variant ESAD-UK 20 3102694 3102694 single base substitution C T downstream_gene_variant ESAD-UK 20 3102694 3102694 single base substitution C T synonymous_variant P197P 591G>A ESAD-UK 20 3103061 3103061 single base substitution C T missense_variant G75D 224G>A ESAD-UK 20 3104174 3104174 single base substitution G A intron_variant ESAD-UK 20 3105947 3105947 single base substitution G C intron_variant ESAD-UK 20 3108504 3108504 single base substitution C G intron_variant ESAD-UK 20 3109074 3109074 single base substitution G T intron_variant ESAD-UK 20 3110738 3110738 single base substitution G A intron_variant ESAD-UK 20 3111860 3111860 single base substitution G A intron_variant ESAD-UK 20 3112460 3112460 single base substitution G C intron_variant ESAD-UK 20 3112763 3112763 single base substitution C G intron_variant ESAD-UK 20 3113605 3113605 single base substitution A C intron_variant ESAD-UK 20 3113749 3113749 single base substitution T A intron_variant ESAD-UK 20 3114908 3114908 single base substitution T G intron_variant ESAD-UK 20 3115145 3115145 single base substitution A T intron_variant ESAD-UK 20 3116273 3116273 single base substitution T G intron_variant ESAD-UK 20 3119488 3119488 single base substitution A G intron_variant ESAD-UK 20 3120066 3120066 single base substitution G A intron_variant ESAD-UK 20 3121507 3121507 single base substitution G A intron_variant ESAD-UK 20 3121880 3121880 single base substitution C G intron_variant ESAD-UK 20 3122521 3122521 single base substitution G A intron_variant ESAD-UK 20 3122618 3122618 single base substitution C T intron_variant ESAD-UK 20 3123618 3123618 single base substitution T C intron_variant ESAD-UK 20 3126318 3126318 single base substitution A T intron_variant ESAD-UK 20 3127658 3127658 single base substitution C T intron_variant ESAD-UK 20 3127939 3127939 single base substitution T G intron_variant ESAD-UK 20 3127940 3127940 single base substitution G A intron_variant ESAD-UK 20 3132007 3132007 single base substitution C T intron_variant ESAD-UK 20 3133415 3133415 single base substitution G A intron_variant ESAD-UK 20 3135685 3135685 single base substitution C A intron_variant ESAD-UK 20 3138760 3138760 deletion of <=200bp T - intron_variant ESAD-UK 20 3140085 3140085 single base substitution G A intron_variant ESAD-UK 20 3142228 3142228 single base substitution G A upstream_gene_variant ESAD-UK 20 3144384 3144384 single base substitution C T upstream_gene_variant ESCA-CN 20 3090789 3090789 single base substitution G A missense_variant P476L 1427C>T ESCA-CN 20 3090789 3090789 single base substitution G A missense_variant P530L 1589C>T ESCA-CN 20 3129537 3129537 single base substitution A T intron_variant ESCA-CN 20 3145328 3145328 single base substitution G A upstream_gene_variant GBM-US 20 3128199 3128199 single base substitution A C intron_variant KIRC-US 20 3103217 3103217 single base substitution C T missense_variant G23D 68G>A KIRC-US 20 3129208 3129208 single base substitution A T intron_variant KIRP-US 20 3090943 3090943 single base substitution G A synonymous_variant L425L 1273C>T KIRP-US 20 3090943 3090943 single base substitution G A synonymous_variant L479L 1435C>T KIRP-US 20 3102965 3102965 single base substitution G A downstream_gene_variant KIRP-US 20 3102965 3102965 single base substitution G A missense_variant P107L 320C>T LAML-KR 20 3090848 3090848 single base substitution T G synonymous_variant R456R 1368A>C LAML-KR 20 3090848 3090848 single base substitution T G synonymous_variant R510R 1530A>C LAML-KR 20 3093421 3093421 single base substitution A G intron_variant LAML-KR 20 3105923 3105923 single base substitution G A intron_variant LAML-KR 20 3106535 3106535 single base substitution G A intron_variant LIAD-FR 20 3102450 3102450 single base substitution G A downstream_gene_variant LIAD-FR 20 3102450 3102450 single base substitution G A missense_variant P279S 835C>T LICA-CN 20 3090889 3090889 single base substitution C G missense_variant E443Q 1327G>C LICA-CN 20 3090889 3090889 single base substitution C G missense_variant E497Q 1489G>C LICA-CN 20 3127559 3127559 single base substitution T A intron_variant LICA-FR 20 3093305 3093305 single base substitution A C intron_variant LICA-FR 20 3099456 3099456 single base substitution G A downstream_gene_variant LICA-FR 20 3099456 3099456 single base substitution G A intron_variant LICA-FR 20 3108529 3108529 single base substitution T C intron_variant LICA-FR 20 3110904 3110904 single base substitution T C intron_variant LICA-FR 20 3113164 3113164 single base substitution C T intron_variant LICA-FR 20 3115204 3115205 deletion of <=200bp AA - intron_variant LICA-FR 20 3116247 3116247 single base substitution C G intron_variant LICA-FR 20 3127921 3127921 single base substitution T C intron_variant LICA-FR 20 3128718 3128719 deletion of <=200bp AG - intron_variant LICA-FR 20 3135699 3135700 deletion of <=200bp AA - intron_variant LIHC-US 20 3102887 3102887 single base substitution T C downstream_gene_variant LIHC-US 20 3102887 3102887 single base substitution T C missense_variant H133R 398A>G LIHC-US 20 3102976 3102976 single base substitution G A downstream_gene_variant LIHC-US 20 3102976 3102976 single base substitution G A synonymous_variant G103G 309C>T LINC-JP 20 3090875 3090875 single base substitution C T synonymous_variant Q447Q 1341G>A LINC-JP 20 3090875 3090875 single base substitution C T synonymous_variant Q501Q 1503G>A LINC-JP 20 3102170 3102170 single base substitution A T downstream_gene_variant LINC-JP 20 3102170 3102170 single base substitution A T missense_variant V372D 1115T>A LINC-JP 20 3117670 3117670 single base substitution T A intron_variant LINC-JP 20 3119659 3119659 single base substitution A T intron_variant LINC-JP 20 3127400 3127400 single base substitution T G intron_variant LINC-JP 20 3127762 3127762 single base substitution T A intron_variant LINC-JP 20 3132829 3132829 deletion of <=200bp A - intron_variant LINC-JP 20 3133469 3133469 single base substitution T C intron_variant LINC-JP 20 3138222 3138222 single base substitution T C intron_variant LINC-JP 20 3145354 3145354 insertion of <=200bp - C upstream_gene_variant LIRI-JP 20 3084950 3084950 single base substitution C T downstream_gene_variant LIRI-JP 20 3086990 3086990 single base substitution T A downstream_gene_variant LIRI-JP 20 3087787 3087787 single base substitution T C downstream_gene_variant LIRI-JP 20 3088893 3088893 single base substitution A G 3_prime_UTR_variant LIRI-JP 20 3091076 3091076 single base substitution C A intron_variant LIRI-JP 20 3093321 3093321 single base substitution C T intron_variant LIRI-JP 20 3097446 3097446 insertion of <=200bp - T intron_variant LIRI-JP 20 3097607 3097607 single base substitution T A intron_variant LIRI-JP 20 3098427 3098427 single base substitution C A downstream_gene_variant LIRI-JP 20 3098427 3098427 single base substitution C A intron_variant LIRI-JP 20 3101619 3101619 single base substitution G C downstream_gene_variant LIRI-JP 20 3101619 3101619 single base substitution G C intron_variant LIRI-JP 20 3101666 3101666 single base substitution A C downstream_gene_variant LIRI-JP 20 3101666 3101666 single base substitution A C intron_variant LIRI-JP 20 3102003 3102003 single base substitution G A downstream_gene_variant LIRI-JP 20 3102003 3102003 single base substitution G A intron_variant LIRI-JP 20 3103227 3103227 single base substitution A C missense_variant S20A 58T>G LIRI-JP 20 3103818 3103818 single base substitution A G intron_variant LIRI-JP 20 3109311 3109311 single base substitution C T intron_variant LIRI-JP 20 3110788 3110788 single base substitution C T intron_variant LIRI-JP 20 3110957 3110957 single base substitution G T intron_variant LIRI-JP 20 3111570 3111570 single base substitution T C intron_variant LIRI-JP 20 3113998 3113998 single base substitution C T intron_variant LIRI-JP 20 3118393 3118393 single base substitution A G intron_variant LIRI-JP 20 3119331 3119331 single base substitution G A intron_variant LIRI-JP 20 3128465 3128465 single base substitution A G intron_variant LIRI-JP 20 3128508 3128508 single base substitution T G intron_variant LIRI-JP 20 3130638 3130638 single base substitution C A intron_variant LIRI-JP 20 3132260 3132260 single base substitution T C intron_variant LIRI-JP 20 3133435 3133435 single base substitution C T intron_variant LIRI-JP 20 3135030 3135030 single base substitution A C intron_variant LIRI-JP 20 3136461 3136461 single base substitution C T intron_variant LIRI-JP 20 3141269 3141269 single base substitution G A upstream_gene_variant LIRI-JP 20 3142667 3142667 single base substitution A C upstream_gene_variant LUSC-KR 20 3085783 3085783 single base substitution C A downstream_gene_variant LUSC-KR 20 3086420 3086420 single base substitution T C downstream_gene_variant LUSC-KR 20 3088533 3088533 single base substitution C A 3_prime_UTR_variant LUSC-KR 20 3090705 3090705 single base substitution C G 3_prime_UTR_variant LUSC-KR 20 3092905 3092905 single base substitution C G intron_variant LUSC-KR 20 3094245 3094245 single base substitution G T intron_variant LUSC-KR 20 3095879 3095879 single base substitution G A intron_variant LUSC-KR 20 3096371 3096371 single base substitution C G intron_variant LUSC-KR 20 3096943 3096943 single base substitution C A intron_variant LUSC-KR 20 3097184 3097184 single base substitution C T intron_variant LUSC-KR 20 3099362 3099362 single base substitution G A downstream_gene_variant LUSC-KR 20 3099362 3099362 single base substitution G A intron_variant LUSC-KR 20 3100803 3100803 single base substitution G A downstream_gene_variant LUSC-KR 20 3100803 3100803 single base substitution G A intron_variant LUSC-KR 20 3102724 3102724 single base substitution A G downstream_gene_variant LUSC-KR 20 3102724 3102724 single base substitution A G synonymous_variant C187C 561T>C LUSC-KR 20 3103155 3103155 single base substitution C A stop_gained E44* 130G>T LUSC-KR 20 3106019 3106019 single base substitution A G intron_variant LUSC-KR 20 3106268 3106268 single base substitution G A intron_variant LUSC-KR 20 3107321 3107321 single base substitution G C intron_variant LUSC-KR 20 3109292 3109292 single base substitution G A intron_variant LUSC-KR 20 3109868 3109868 single base substitution C T intron_variant LUSC-KR 20 3122059 3122059 single base substitution C T intron_variant LUSC-KR 20 3132111 3132111 single base substitution T C intron_variant LUSC-KR 20 3133210 3133210 single base substitution G A intron_variant LUSC-KR 20 3133919 3133919 single base substitution C T intron_variant LUSC-KR 20 3137783 3137783 single base substitution C A intron_variant LUSC-KR 20 3144281 3144281 single base substitution C T upstream_gene_variant LUSC-KR 20 3144950 3144950 single base substitution G C upstream_gene_variant LUSC-US 20 3095978 3095978 single base substitution T C intron_variant LUSC-US 20 3095978 3095978 single base substitution T C missense_variant T464A 1390A>G MALY-DE 20 3084157 3084157 single base substitution T C downstream_gene_variant MALY-DE 20 3089614 3089614 single base substitution A G 3_prime_UTR_variant MALY-DE 20 3091680 3091680 single base substitution T C intron_variant MALY-DE 20 3094126 3094126 single base substitution A C intron_variant MALY-DE 20 3107317 3107317 deletion of <=200bp G - intron_variant MALY-DE 20 3114425 3114425 single base substitution C T intron_variant MALY-DE 20 3115801 3115801 single base substitution A T intron_variant MELA-AU 20 3083254 3083254 single base substitution T G downstream_gene_variant MELA-AU 20 3083720 3083720 single base substitution G A downstream_gene_variant MELA-AU 20 3083743 3083743 single base substitution C T downstream_gene_variant MELA-AU 20 3085603 3085603 single base substitution G A downstream_gene_variant MELA-AU 20 3085656 3085656 single base substitution C T downstream_gene_variant MELA-AU 20 3086564 3086564 single base substitution G A downstream_gene_variant MELA-AU 20 3086587 3086587 single base substitution G A downstream_gene_variant MELA-AU 20 3086636 3086636 single base substitution C T downstream_gene_variant MELA-AU 20 3086906 3086906 single base substitution C T downstream_gene_variant MELA-AU 20 3087053 3087053 single base substitution G A downstream_gene_variant MELA-AU 20 3087176 3087176 single base substitution C A downstream_gene_variant MELA-AU 20 3087178 3087178 single base substitution G A downstream_gene_variant MELA-AU 20 3087418 3087418 single base substitution G A downstream_gene_variant MELA-AU 20 3087419 3087419 single base substitution G A downstream_gene_variant MELA-AU 20 3087862 3087862 single base substitution G A downstream_gene_variant MELA-AU 20 3088230 3088230 single base substitution G T 3_prime_UTR_variant MELA-AU 20 3088774 3088774 single base substitution G A 3_prime_UTR_variant MELA-AU 20 3089288 3089288 single base substitution G A 3_prime_UTR_variant MELA-AU 20 3089402 3089402 single base substitution G T 3_prime_UTR_variant MELA-AU 20 3089785 3089785 single base substitution G A 3_prime_UTR_variant MELA-AU 20 3090395 3090395 single base substitution G A 3_prime_UTR_variant MELA-AU 20 3090427 3090427 single base substitution G A 3_prime_UTR_variant MELA-AU 20 3091115 3091116 multiple base substitution (>=2bp and <=200bp) CG AA intron_variant MELA-AU 20 3091354 3091354 single base substitution G A intron_variant MELA-AU 20 3092402 3092402 single base substitution G A intron_variant MELA-AU 20 3092403 3092403 single base substitution G A intron_variant MELA-AU 20 3092783 3092783 single base substitution G A intron_variant MELA-AU 20 3092974 3092974 single base substitution C T intron_variant MELA-AU 20 3093048 3093048 single base substitution G A intron_variant MELA-AU 20 3093225 3093225 single base substitution G A intron_variant MELA-AU 20 3094326 3094326 single base substitution G A intron_variant MELA-AU 20 3094555 3094555 single base substitution G A intron_variant MELA-AU 20 3095212 3095212 single base substitution G A intron_variant MELA-AU 20 3095213 3095213 single base substitution G A intron_variant MELA-AU 20 3095466 3095466 single base substitution C T intron_variant MELA-AU 20 3095577 3095577 single base substitution G A intron_variant MELA-AU 20 3095578 3095578 single base substitution G A intron_variant MELA-AU 20 3095674 3095674 single base substitution G A intron_variant MELA-AU 20 3095737 3095737 single base substitution G A intron_variant MELA-AU 20 3095837 3095837 single base substitution G A intron_variant MELA-AU 20 3096018 3096018 single base substitution G A intron_variant MELA-AU 20 3096018 3096018 single base substitution G A synonymous_variant T450T 1350C>T MELA-AU 20 3096504 3096504 single base substitution G A intron_variant MELA-AU 20 3096836 3096836 single base substitution G A intron_variant MELA-AU 20 3097103 3097103 single base substitution G A intron_variant MELA-AU 20 3097169 3097169 single base substitution C T intron_variant MELA-AU 20 3097179 3097179 single base substitution G T intron_variant MELA-AU 20 3097563 3097563 single base substitution G A intron_variant MELA-AU 20 3097871 3097871 single base substitution G A intron_variant MELA-AU 20 3099308 3099308 single base substitution C T downstream_gene_variant MELA-AU 20 3099308 3099308 single base substitution C T intron_variant MELA-AU 20 3099310 3099310 single base substitution C T downstream_gene_variant MELA-AU 20 3099310 3099310 single base substitution C T intron_variant MELA-AU 20 3099527 3099527 single base substitution G A downstream_gene_variant MELA-AU 20 3099527 3099527 single base substitution G A intron_variant MELA-AU 20 3099536 3099536 single base substitution G A downstream_gene_variant MELA-AU 20 3099536 3099536 single base substitution G A intron_variant MELA-AU 20 3099734 3099734 single base substitution G A downstream_gene_variant MELA-AU 20 3099734 3099734 single base substitution G A intron_variant MELA-AU 20 3100154 3100154 single base substitution G A downstream_gene_variant MELA-AU 20 3100154 3100154 single base substitution G A intron_variant MELA-AU 20 3100446 3100446 single base substitution G A downstream_gene_variant MELA-AU 20 3100446 3100446 single base substitution G A intron_variant MELA-AU 20 3100667 3100667 single base substitution G A downstream_gene_variant MELA-AU 20 3100667 3100667 single base substitution G A intron_variant MELA-AU 20 3100670 3100670 single base substitution A G downstream_gene_variant MELA-AU 20 3100670 3100670 single base substitution A G intron_variant MELA-AU 20 3101070 3101070 single base substitution G A downstream_gene_variant MELA-AU 20 3101070 3101070 single base substitution G A intron_variant MELA-AU 20 3101395 3101395 single base substitution C T downstream_gene_variant MELA-AU 20 3101395 3101395 single base substitution C T intron_variant MELA-AU 20 3101459 3101459 single base substitution G A downstream_gene_variant MELA-AU 20 3101459 3101459 single base substitution G A intron_variant MELA-AU 20 3102226 3102226 single base substitution G A downstream_gene_variant MELA-AU 20 3102226 3102226 single base substitution G A synonymous_variant I353I 1059C>T MELA-AU 20 3102241 3102241 single base substitution C T downstream_gene_variant MELA-AU 20 3102241 3102241 single base substitution C T synonymous_variant T348T 1044G>A MELA-AU 20 3102292 3102292 single base substitution G A downstream_gene_variant MELA-AU 20 3102292 3102292 single base substitution G A synonymous_variant F331F 993C>T MELA-AU 20 3104360 3104360 single base substitution G A intron_variant MELA-AU 20 3105546 3105546 single base substitution G A intron_variant MELA-AU 20 3105959 3105959 single base substitution G A intron_variant MELA-AU 20 3106004 3106004 single base substitution G A intron_variant MELA-AU 20 3106495 3106495 single base substitution G A intron_variant MELA-AU 20 3107125 3107125 single base substitution C T intron_variant MELA-AU 20 3107261 3107261 single base substitution G A intron_variant MELA-AU 20 3107350 3107350 single base substitution A T intron_variant MELA-AU 20 3108443 3108443 single base substitution G A intron_variant MELA-AU 20 3108578 3108578 single base substitution C T intron_variant MELA-AU 20 3108636 3108636 single base substitution A T intron_variant MELA-AU 20 3108765 3108765 single base substitution G A intron_variant MELA-AU 20 3110025 3110025 single base substitution T C intron_variant MELA-AU 20 3110344 3110344 single base substitution C T intron_variant MELA-AU 20 3110374 3110374 single base substitution G A intron_variant MELA-AU 20 3110776 3110776 single base substitution G T intron_variant MELA-AU 20 3111289 3111289 single base substitution G A intron_variant MELA-AU 20 3111531 3111531 single base substitution G A intron_variant MELA-AU 20 3111772 3111772 single base substitution G A intron_variant MELA-AU 20 3111797 3111797 single base substitution C T intron_variant MELA-AU 20 3112415 3112415 single base substitution G A intron_variant MELA-AU 20 3113736 3113736 single base substitution G T intron_variant MELA-AU 20 3113970 3113970 single base substitution G A intron_variant MELA-AU 20 3113991 3113991 single base substitution G T intron_variant MELA-AU 20 3114402 3114402 single base substitution T G intron_variant MELA-AU 20 3115028 3115028 single base substitution G A intron_variant MELA-AU 20 3117221 3117221 single base substitution G A intron_variant MELA-AU 20 3117365 3117365 single base substitution G A intron_variant MELA-AU 20 3117494 3117494 single base substitution G A intron_variant MELA-AU 20 3118483 3118483 single base substitution A T intron_variant MELA-AU 20 3120030 3120030 single base substitution T G intron_variant MELA-AU 20 3120212 3120212 single base substitution A T intron_variant MELA-AU 20 3120328 3120328 single base substitution A T intron_variant MELA-AU 20 3120419 3120419 single base substitution G A intron_variant MELA-AU 20 3120651 3120651 single base substitution G A intron_variant MELA-AU 20 3121347 3121347 single base substitution G A intron_variant MELA-AU 20 3121534 3121534 single base substitution C T intron_variant MELA-AU 20 3121763 3121763 single base substitution A G intron_variant MELA-AU 20 3122280 3122280 single base substitution G A intron_variant MELA-AU 20 3122381 3122381 single base substitution G A intron_variant MELA-AU 20 3122764 3122764 single base substitution C A intron_variant MELA-AU 20 3123160 3123160 single base substitution G A intron_variant MELA-AU 20 3123817 3123817 single base substitution G A intron_variant MELA-AU 20 3124061 3124061 single base substitution T C intron_variant MELA-AU 20 3124415 3124415 single base substitution G A intron_variant MELA-AU 20 3124526 3124526 single base substitution G A intron_variant MELA-AU 20 3125288 3125289 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 20 3125595 3125595 single base substitution G A intron_variant MELA-AU 20 3125846 3125846 single base substitution G A intron_variant MELA-AU 20 3125863 3125863 single base substitution A T intron_variant MELA-AU 20 3126013 3126013 single base substitution G A intron_variant MELA-AU 20 3126104 3126104 single base substitution G A intron_variant MELA-AU 20 3126562 3126562 single base substitution G A intron_variant MELA-AU 20 3126619 3126619 single base substitution G A intron_variant MELA-AU 20 3126765 3126765 single base substitution T C intron_variant MELA-AU 20 3128833 3128833 single base substitution G A intron_variant MELA-AU 20 3129384 3129384 single base substitution G A intron_variant MELA-AU 20 3130432 3130432 single base substitution G A intron_variant MELA-AU 20 3130456 3130456 single base substitution G A intron_variant MELA-AU 20 3130945 3130946 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 3131892 3131892 single base substitution G A intron_variant MELA-AU 20 3132678 3132678 single base substitution G A intron_variant MELA-AU 20 3134483 3134483 single base substitution G A intron_variant MELA-AU 20 3135161 3135161 single base substitution T G intron_variant MELA-AU 20 3135492 3135492 single base substitution G A intron_variant MELA-AU 20 3136456 3136456 single base substitution G A intron_variant MELA-AU 20 3137105 3137105 single base substitution G A intron_variant MELA-AU 20 3137800 3137800 single base substitution G A intron_variant MELA-AU 20 3138045 3138046 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 3139786 3139786 single base substitution A C intron_variant MELA-AU 20 3140235 3140235 single base substitution C T intron_variant MELA-AU 20 3140384 3140384 single base substitution G A intron_variant MELA-AU 20 3140540 3140540 single base substitution C T 5_prime_UTR_variant MELA-AU 20 3140540 3140540 single base substitution C T upstream_gene_variant MELA-AU 20 3140541 3140541 single base substitution C T 5_prime_UTR_variant MELA-AU 20 3140541 3140541 single base substitution C T upstream_gene_variant MELA-AU 20 3140820 3140820 single base substitution C T 5_prime_UTR_variant MELA-AU 20 3140820 3140820 single base substitution C T upstream_gene_variant MELA-AU 20 3141053 3141053 single base substitution A T upstream_gene_variant MELA-AU 20 3141510 3141510 single base substitution C T upstream_gene_variant MELA-AU 20 3141863 3141863 single base substitution C T upstream_gene_variant MELA-AU 20 3142050 3142050 single base substitution C T upstream_gene_variant MELA-AU 20 3142275 3142275 single base substitution G A upstream_gene_variant MELA-AU 20 3142356 3142356 single base substitution A G upstream_gene_variant MELA-AU 20 3143143 3143143 single base substitution G A upstream_gene_variant MELA-AU 20 3143454 3143454 single base substitution C T upstream_gene_variant MELA-AU 20 3143504 3143504 single base substitution G A upstream_gene_variant MELA-AU 20 3143571 3143571 single base substitution G C upstream_gene_variant MELA-AU 20 3143582 3143582 single base substitution G A upstream_gene_variant MELA-AU 20 3143742 3143742 single base substitution G A upstream_gene_variant MELA-AU 20 3144681 3144681 single base substitution G A upstream_gene_variant MELA-AU 20 3144828 3144828 single base substitution G A upstream_gene_variant MELA-AU 20 3144890 3144891 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 20 3144957 3144957 single base substitution G A upstream_gene_variant MELA-AU 20 3144992 3144992 single base substitution T A upstream_gene_variant MELA-AU 20 3145103 3145103 single base substitution G A upstream_gene_variant MELA-AU 20 3145481 3145482 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 20 3145781 3145781 single base substitution G A upstream_gene_variant ORCA-IN 20 3098404 3098404 single base substitution G A downstream_gene_variant ORCA-IN 20 3098404 3098404 single base substitution G A intron_variant ORCA-IN 20 3098520 3098520 single base substitution C G downstream_gene_variant ORCA-IN 20 3098520 3098520 single base substitution C G intron_variant ORCA-IN 20 3105324 3105324 single base substitution T C intron_variant ORCA-IN 20 3127490 3127490 single base substitution G T intron_variant ORCA-IN 20 3129308 3129308 single base substitution G A intron_variant ORCA-IN 20 3135149 3135149 single base substitution G C intron_variant ORCA-IN 20 3144012 3144012 single base substitution G A upstream_gene_variant OV-AU 20 3091965 3091965 single base substitution C G intron_variant OV-AU 20 3096569 3096569 single base substitution C G intron_variant OV-AU 20 3099404 3099404 single base substitution C G downstream_gene_variant OV-AU 20 3099404 3099404 single base substitution C G intron_variant OV-AU 20 3105479 3105479 single base substitution G A intron_variant OV-AU 20 3110770 3110770 single base substitution T C intron_variant OV-AU 20 3111298 3111298 single base substitution T C intron_variant OV-AU 20 3112147 3112147 single base substitution G T intron_variant OV-AU 20 3115850 3115850 single base substitution G C intron_variant OV-AU 20 3120572 3120572 single base substitution T G intron_variant OV-AU 20 3138642 3138642 single base substitution C G intron_variant OV-AU 20 3139256 3139256 single base substitution G A intron_variant PACA-AU 20 3086017 3086017 single base substitution G A downstream_gene_variant PACA-AU 20 3087178 3087178 single base substitution G A downstream_gene_variant PACA-AU 20 3093426 3093426 single base substitution C T intron_variant PACA-AU 20 3100085 3100085 single base substitution G A downstream_gene_variant PACA-AU 20 3100085 3100085 single base substitution G A intron_variant PACA-AU 20 3102432 3102432 single base substitution C G downstream_gene_variant PACA-AU 20 3102432 3102432 single base substitution C G missense_variant D285H 853G>C PACA-AU 20 3108931 3108931 single base substitution T C intron_variant PACA-AU 20 3110559 3110559 single base substitution T G intron_variant PACA-AU 20 3111261 3111261 single base substitution C T intron_variant PACA-AU 20 3111833 3111833 single base substitution C G intron_variant PACA-AU 20 3115280 3115280 single base substitution G A intron_variant PACA-AU 20 3128000 3128000 single base substitution G C intron_variant PACA-AU 20 3129104 3129104 single base substitution C T intron_variant PACA-AU 20 3129117 3129117 single base substitution G C intron_variant PACA-AU 20 3139107 3139107 single base substitution C T intron_variant PACA-AU 20 3139266 3139266 single base substitution G A intron_variant PACA-CA 20 3083275 3083275 single base substitution T C downstream_gene_variant PACA-CA 20 3085545 3085545 single base substitution G A downstream_gene_variant PACA-CA 20 3087317 3087317 single base substitution C G downstream_gene_variant PACA-CA 20 3087359 3087359 insertion of <=200bp - G downstream_gene_variant PACA-CA 20 3087862 3087862 single base substitution G A downstream_gene_variant PACA-CA 20 3089458 3089458 single base substitution A C 3_prime_UTR_variant PACA-CA 20 3092278 3092278 single base substitution C A intron_variant PACA-CA 20 3102786 3102786 single base substitution G T downstream_gene_variant PACA-CA 20 3102786 3102786 single base substitution G T missense_variant L167I 499C>A PACA-CA 20 3104057 3104057 single base substitution A C splice_region_variant PACA-CA 20 3106276 3106276 single base substitution G A intron_variant PACA-CA 20 3108216 3108216 single base substitution C T intron_variant PACA-CA 20 3108903 3108903 single base substitution T C intron_variant PACA-CA 20 3111108 3111108 single base substitution G C intron_variant PACA-CA 20 3113447 3113447 single base substitution C G intron_variant PACA-CA 20 3115663 3115663 single base substitution T C intron_variant PACA-CA 20 3116565 3116565 single base substitution T G intron_variant PACA-CA 20 3124848 3124848 single base substitution T C intron_variant PACA-CA 20 3144963 3144963 single base substitution C T upstream_gene_variant PAEN-AU 20 3094840 3094840 single base substitution G T intron_variant PAEN-AU 20 3099412 3099412 single base substitution C T downstream_gene_variant PAEN-AU 20 3099412 3099412 single base substitution C T intron_variant PAEN-AU 20 3110364 3110364 single base substitution T C intron_variant PAEN-IT 20 3112576 3112576 single base substitution C T intron_variant PBCA-DE 20 3086953 3086953 deletion of <=200bp A - downstream_gene_variant PBCA-DE 20 3090826 3090826 single base substitution G C missense_variant R464G 1390C>G PBCA-DE 20 3090826 3090826 single base substitution G C missense_variant R518G 1552C>G PBCA-DE 20 3108858 3108858 single base substitution C T intron_variant PRAD-CA 20 3094895 3094895 single base substitution C T intron_variant PRAD-CA 20 3098174 3098174 single base substitution C T downstream_gene_variant PRAD-CA 20 3098174 3098174 single base substitution C T intron_variant PRAD-CA 20 3099335 3099335 single base substitution G A downstream_gene_variant PRAD-CA 20 3099335 3099335 single base substitution G A intron_variant PRAD-CA 20 3110888 3110888 single base substitution T A intron_variant PRAD-CA 20 3126087 3126087 single base substitution C T intron_variant PRAD-CA 20 3133196 3133196 single base substitution A G intron_variant PRAD-CA 20 3137767 3137767 single base substitution G A intron_variant PRAD-CA 20 3142932 3142932 single base substitution G A upstream_gene_variant PRAD-UK 20 3090437 3090437 single base substitution G A 3_prime_UTR_variant PRAD-UK 20 3091461 3091461 single base substitution T C intron_variant PRAD-UK 20 3102628 3102628 single base substitution C T downstream_gene_variant PRAD-UK 20 3102628 3102628 single base substitution C T synonymous_variant Q219Q 657G>A PRAD-UK 20 3108458 3108458 single base substitution G C intron_variant PRAD-UK 20 3113513 3113513 single base substitution A G intron_variant PRAD-UK 20 3117304 3117304 single base substitution A T intron_variant PRAD-UK 20 3118552 3118552 single base substitution A G intron_variant PRAD-UK 20 3138140 3138140 single base substitution T C intron_variant PRAD-US 20 3128064 3128064 single base substitution C T intron_variant READ-US 20 3127926 3127926 single base substitution G A intron_variant RECA-EU 20 3103947 3103947 single base substitution G C intron_variant RECA-EU 20 3113637 3113637 single base substitution A G intron_variant RECA-EU 20 3116094 3116094 single base substitution T A intron_variant RECA-EU 20 3126087 3126087 single base substitution C T intron_variant RECA-EU 20 3128457 3128457 single base substitution A G intron_variant RECA-EU 20 3140786 3140786 single base substitution G T 5_prime_UTR_variant RECA-EU 20 3140786 3140786 single base substitution G T upstream_gene_variant RECA-EU 20 3143090 3143090 single base substitution C T upstream_gene_variant SKCA-BR 20 3083901 3083901 single base substitution G A downstream_gene_variant SKCA-BR 20 3084465 3084465 single base substitution G A downstream_gene_variant SKCA-BR 20 3089362 3089364 deletion of <=200bp TGA - 3_prime_UTR_variant SKCA-BR 20 3089364 3089366 deletion of <=200bp AGC - 3_prime_UTR_variant SKCA-BR 20 3093074 3093074 insertion of <=200bp - GA intron_variant SKCA-BR 20 3098224 3098224 single base substitution G A downstream_gene_variant SKCA-BR 20 3098224 3098224 single base substitution G A intron_variant SKCA-BR 20 3098225 3098225 single base substitution G A downstream_gene_variant SKCA-BR 20 3098225 3098225 single base substitution G A intron_variant SKCA-BR 20 3099854 3099854 single base substitution C T downstream_gene_variant SKCA-BR 20 3099854 3099854 single base substitution C T intron_variant SKCA-BR 20 3103090 3103090 insertion of <=200bp - CCTA frameshift_variant R65R*? SKCA-BR 20 3104119 3104119 single base substitution T A intron_variant SKCA-BR 20 3105835 3105835 single base substitution A C intron_variant SKCA-BR 20 3106279 3106279 single base substitution C T intron_variant SKCA-BR 20 3106525 3106525 single base substitution A C intron_variant SKCA-BR 20 3106720 3106720 single base substitution G A intron_variant SKCA-BR 20 3108855 3108855 single base substitution G A intron_variant SKCA-BR 20 3108998 3108998 single base substitution G T intron_variant SKCA-BR 20 3110979 3110980 deletion of <=200bp CT - intron_variant SKCA-BR 20 3111420 3111420 single base substitution G T intron_variant SKCA-BR 20 3113363 3113363 single base substitution G A intron_variant SKCA-BR 20 3113463 3113464 deletion of <=200bp CA - intron_variant SKCA-BR 20 3116192 3116192 single base substitution T C intron_variant SKCA-BR 20 3120400 3120400 single base substitution G C intron_variant SKCA-BR 20 3123187 3123187 single base substitution T G intron_variant SKCA-BR 20 3123418 3123427 deletion of <=200bp CAAAAAAAAA - intron_variant SKCA-BR 20 3124334 3124334 single base substitution G T intron_variant SKCA-BR 20 3126679 3126679 single base substitution G A intron_variant SKCA-BR 20 3130560 3130560 single base substitution G A intron_variant SKCA-BR 20 3132639 3132639 single base substitution C T intron_variant SKCA-BR 20 3133314 3133314 single base substitution G A intron_variant SKCA-BR 20 3134534 3134534 insertion of <=200bp - AT intron_variant SKCA-BR 20 3137225 3137225 single base substitution A G intron_variant SKCA-BR 20 3140385 3140385 single base substitution A C intron_variant SKCA-BR 20 3140540 3140540 single base substitution C T 5_prime_UTR_variant SKCA-BR 20 3140540 3140540 single base substitution C T upstream_gene_variant SKCA-BR 20 3141784 3141784 single base substitution C G upstream_gene_variant SKCA-BR 20 3144005 3144005 single base substitution T C upstream_gene_variant SKCM-US 20 3102730 3102730 single base substitution G A downstream_gene_variant SKCM-US 20 3102730 3102730 single base substitution G A synonymous_variant I185I 555C>T SKCM-US 20 3127433 3127433 single base substitution A G intron_variant SKCM-US 20 3127538 3127538 single base substitution G A intron_variant SKCM-US 20 3127585 3127585 single base substitution G A intron_variant SKCM-US 20 3127866 3127866 single base substitution C T intron_variant SKCM-US 20 3128187 3128187 single base substitution G A intron_variant SKCM-US 20 3128464 3128464 single base substitution A G intron_variant SKCM-US 20 3128617 3128617 single base substitution T C intron_variant SKCM-US 20 3128650 3128650 single base substitution A G intron_variant SKCM-US 20 3128799 3128799 single base substitution G A intron_variant SKCM-US 20 3128839 3128839 single base substitution T A intron_variant SKCM-US 20 3128843 3128843 single base substitution G A intron_variant SKCM-US 20 3128872 3128872 single base substitution A G intron_variant SKCM-US 20 3128887 3128887 single base substitution G A intron_variant SKCM-US 20 3129049 3129049 single base substitution G A intron_variant SKCM-US 20 3129117 3129117 single base substitution G A intron_variant SKCM-US 20 3129384 3129384 single base substitution G A intron_variant SKCM-US 20 3129453 3129453 single base substitution G A intron_variant SKCM-US 20 3129526 3129526 single base substitution G A intron_variant SKCM-US 20 3129640 3129640 single base substitution C T intron_variant SKCM-US 20 3145151 3145151 single base substitution C A upstream_gene_variant SKCM-US 20 3145196 3145196 single base substitution G A upstream_gene_variant STAD-US 20 3102959 3102959 single base substitution A T downstream_gene_variant STAD-US 20 3102959 3102959 single base substitution A T missense_variant V109D 326T>A STAD-US 20 3127441 3127441 single base substitution A G intron_variant STAD-US 20 3127511 3127511 single base substitution A G intron_variant STAD-US 20 3127667 3127667 single base substitution G A intron_variant STAD-US 20 3127717 3127717 insertion of <=200bp - C intron_variant STAD-US 20 3127807 3127807 single base substitution T G intron_variant STAD-US 20 3127942 3127942 single base substitution A G intron_variant STAD-US 20 3128001 3128001 deletion of <=200bp C - intron_variant STAD-US 20 3128084 3128084 single base substitution G A intron_variant STAD-US 20 3128087 3128087 single base substitution A G intron_variant STAD-US 20 3128626 3128626 single base substitution C T intron_variant STAD-US 20 3129630 3129630 single base substitution T C intron_variant STAD-US 20 3129655 3129655 single base substitution G A intron_variant STAD-US 20 3145148 3145150 deletion of <=200bp CTT - upstream_gene_variant STAD-US 20 3145154 3145154 single base substitution C T upstream_gene_variant STAD-US 20 3145314 3145314 single base substitution C T upstream_gene_variant STAD-US 20 3145701 3145701 single base substitution C T upstream_gene_variant THCA-SA 20 3090848 3090848 single base substitution T G synonymous_variant R456R 1368A>C THCA-SA 20 3090848 3090848 single base substitution T G synonymous_variant R510R 1530A>C THCA-SA 20 3128555 3128555 single base substitution G A intron_variant THCA-US 20 3090865 3090865 single base substitution C T missense_variant G451S 1351G>A THCA-US 20 3090865 3090865 single base substitution C T missense_variant G505S 1513G>A UCEC-US 20 3102199 3102199 single base substitution C A downstream_gene_variant UCEC-US 20 3102199 3102199 single base substitution C A missense_variant Q362H 1086G>T UCEC-US 20 3102384 3102384 single base substitution G A downstream_gene_variant UCEC-US 20 3102384 3102384 single base substitution G A stop_gained R301* 901C>T UCEC-US 20 3102487 3102487 single base substitution G T downstream_gene_variant UCEC-US 20 3102487 3102487 single base substitution G T synonymous_variant P266P 798C>A UCEC-US 20 3102640 3102640 single base substitution C A downstream_gene_variant UCEC-US 20 3102640 3102640 single base substitution C A missense_variant E215D 645G>T UCEC-US 20 3103091 3103091 single base substitution C A missense_variant R65M 194G>T UCEC-US 20 3103149 3103149 single base substitution A G missense_variant F46L 136T>C UCEC-US 20 3103212 3103212 single base substitution C T missense_variant E25K 73G>A UCEC-US 20 3103999 3103999 single base substitution G T missense_variant L5I 13C>A UCEC-US 20 3127013 3127015 deletion of <=200bp AAA - intron_variant UCEC-US 20 3127235 3127235 single base substitution T G intron_variant UCEC-US 20 3127402 3127402 single base substitution G T intron_variant UCEC-US 20 3127491 3127491 single base substitution T C intron_variant UCEC-US 20 3127597 3127597 single base substitution T C intron_variant UCEC-US 20 3127732 3127732 single base substitution G C intron_variant UCEC-US 20 3127786 3127786 single base substitution C T intron_variant UCEC-US 20 3128040 3128040 single base substitution G T intron_variant UCEC-US 20 3128122 3128122 single base substitution C T intron_variant UCEC-US 20 3128273 3128273 single base substitution A C intron_variant UCEC-US 20 3128440 3128440 single base substitution C T intron_variant UCEC-US 20 3128701 3128701 single base substitution T G intron_variant UCEC-US 20 3128745 3128745 single base substitution C T intron_variant UCEC-US 20 3128843 3128843 single base substitution G A intron_variant UCEC-US 20 3128875 3128875 single base substitution A G intron_variant UCEC-US 20 3128988 3128988 single base substitution C A intron_variant UCEC-US 20 3129104 3129104 single base substitution C A intron_variant UCEC-US 20 3129302 3129302 single base substitution G T intron_variant UCEC-US 20 3129370 3129370 single base substitution C T intron_variant UCEC-US 20 3129497 3129497 single base substitution C A intron_variant UCEC-US 20 3145118 3145118 single base substitution A G upstream_gene_variant UCEC-US 20 3145345 3145345 deletion of <=200bp G - upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 534 COSM5612336 c.1207A>G p.M403V Substitution - Missense 20:3121432-3121432 - TCGA-IR-A3LK-01 COSM4816570 c.1482C>G p.F494L Substitution - Missense 20:3110250-3110250 - HCC89 COSM1615451 c.1115T>A p.V372D Substitution - Missense 20:3121524-3121524 - TCGA-B5-A0JY-01 COSM1025744 c.73G>A p.E25K Substitution - Missense 20:3122566-3122566 - T2974 COSM4738779 c.730C>A p.Q244K Substitution - Missense 20:3121909-3121909 - EWS834 COSM4581719 c.1052C>T p.A351V Substitution - Missense 20:3121587-3121587 - Au1 COSM5597831 c.420C>T p.P140P Substitution - coding silent 20:3122219-3122219 - TCGA-CC-A7IL-01 COSM4912044 c.398A>G p.H133R Substitution - Missense 20:3122241-3122241 - TCGA-AP-A059-01 COSM1025731 c.901C>T p.R301* Substitution - Nonsense 20:3121738-3121738 - TCGA-CZ-5468-01 COSM478006 c.68G>A p.G23D Substitution - Missense 20:3122571-3122571 - TCGA-D1-A17Q-01 COSM1025741 c.645G>T p.E215D Substitution - Missense 20:3121994-3121994 - PT28 COSM5906451 c.677C>T p.P226L Substitution - Missense 20:3121962-3121962 - DLD1 COSM2889195 c.1553G>A p.R518H Substitution - Missense 20:3110179-3110179 - 0089_CRUK_PC_0089_T1_DNA COSM4413677 c.657G>A p.Q219Q Substitution - coding silent 20:3121982-3121982 - CHEWS020 COSM4581722 c.174C>T p.P58P Substitution - coding silent 20:3122465-3122465 - YUMOKI COSM5391816 c.703G>A p.D235N Substitution - Missense 20:3121936-3121936 - CSCC-62-T COSM4504861 c.676C>T p.P226S Substitution - Missense 20:3121963-3121963 - TCGA-39-5024-01 COSM723133 c.1390A>G p.T464A Substitution - Missense 20:3115332-3115332 - ZZUFHECRKL-G014T COSM5437460 c.1589C>T p.P530L Substitution - Missense 20:3110143-3110143 - TCGA-D1-A103-01 COSM1025743 c.136T>C p.F46L Substitution - Missense 20:3122503-3122503 - TCGA-CC-A3MB-01 COSM4933845 c.309C>T p.G103G Substitution - coding silent 20:3122330-3122330 - 06-P2007 COSM4382365 c.1300G>A p.A434T Substitution - Missense 20:3115422-3115422 - TCGA-BR-A44U-01 COSM4097573 c.326T>A p.V109D Substitution - Missense 20:3122313-3122313 - 1_RESISTANT COSM1720901 c.452_453CC>TT p.S151F Substitution - Missense 20:3122186-3122187 - J36_T COSM3963471 c.561T>G p.C187W Substitution - Missense 20:3122078-3122078 - 8052859 COSM3770763 c.853G>C p.D285H Substitution - Missense 20:3121786-3121786 - HCC153T COSM3707698 c.1503G>A p.Q501Q Substitution - coding silent 20:3110229-3110229 - ccRCC-16 COSM1664860 c.881G>T p.R294L Substitution - Missense 20:3121758-3121758 - 587332 COSM1231591 c.404G>A p.G135D Substitution - Missense 20:3122235-3122235 - TCGA-AP-A0LM-01 COSM1025749 c.13C>A p.L5I Substitution - Missense 20:3123353-3123353 - LUAD-NYU408 COSM374402 c.851T>A p.I284N Substitution - Missense 20:3121788-3121788 - 3N59-VS-3T59 COSM1240598 c.902G>A p.R301Q Substitution - Missense 20:3121737-3121737 - sysucc-692T COSM5763778 c.234C>G p.V78V Substitution - coding silent 20:3122405-3122405 - TCGA-DK-A3WW-01 COSM1307274 c.1250C>T p.S417L Substitution - Missense 20:3121389-3121389 - LUAD-E00934 COSM393474 c.522G>A p.R174R Substitution - coding silent 20:3122117-3122117 - CSCC-27-T COSM4489542 c.348C>T p.T116T Substitution - coding silent 20:3122291-3122291 - 2492722 COSM5723067 c.498C>T p.S166S Substitution - coding silent 20:3122141-3122141 - CSCC-7-T COSM4495203 c.448C>T p.P150S Substitution - Missense 20:3122191-3122191 - TCGA-FU-A2QG-01 COSM4849069 c.341C>T p.A114V Substitution - Missense 20:3122298-3122298 - SS6003309 COSM5953080 c.224G>A p.G75D Substitution - Missense 20:3122415-3122415 - 1_PRE-TREATMENT COSM1720901 c.452_453CC>TT p.S151F Substitution - Missense 20:3122186-3122187 - C089 COSM5437460 c.1589C>T p.P530L Substitution - Missense 20:3110143-3110143 - PD14453a COSM5777209 c.1088A>G p.K363R Substitution - Missense 20:3121551-3121551 - Pat_14_B COSM5857646 c.977C>T p.A326V Substitution - Missense 20:3121662-3121662 - TCGA-AG-A002-01 COSM289804 c.750G>T p.Q250H Substitution - Missense 20:3121889-3121889 - TCGA-IR-A3LK-01 COSM4817529 c.92C>G p.S31C Substitution - Missense 20:3122547-3122547 - TCGA-G2-A2EC-01 COSM1307274 c.1250C>T p.S417L Substitution - Missense 20:3121389-3121389 - WSU-HN8 COSM4602615 c.1568C>T p.T523M Substitution - Missense 20:3110164-3110164 - LC_C18 COSM1190196 c.1499A>G p.Y500C Substitution - Missense 20:3110233-3110233 - SNU-C4 COSM4653270 c.565A>G p.K189E Substitution - Missense 20:3122074-3122074 - CN-AML-CR-7-Dx COSM5428648 c.1530A>C p.R510R Substitution - coding silent 20:3110202-3110202 - D10 COSM5007082 c.721G>C p.E241Q Substitution - Missense 20:3121918-3121918 - TCGA-CA-6717-01 COSM1411105 c.342G>A p.A114A Substitution - coding silent 20:3122297-3122297 - HCC153 COSM3707698 c.1503G>A p.Q501Q Substitution - coding silent 20:3110229-3110229 - HCC89T COSM1615451 c.1115T>A p.V372D Substitution - Missense 20:3121524-3121524 - TCGA-EM-A2CK-01 COSM2889197 c.1513G>A p.G505S Substitution - Missense 20:3110219-3110219 - TCGA-JW-A5VL-01 COSM4847734 c.723G>A p.E241E Substitution - coding silent 20:3121916-3121916 - 71M COSM5596134 c.1331C>T p.S444F Substitution - Missense 20:3115391-3115391 - 61 COSM5741784 c.881G>A p.R294H Substitution - Missense 20:3121758-3121758 - TCGA-AA-3848-01 COSM271812 c.598A>G p.T200A Substitution - Missense 20:3122041-3122041 - C91 COSM4444817 c.215C>T p.A72V Substitution - Missense 20:3122424-3122424 - 585208 COSM326805 c.1120G>T p.D374Y Substitution - Missense 20:3121519-3121519 - sysucc-1370T COSM5471175 c.1251G>A p.S417S Substitution - coding silent 20:3121388-3121388 - LUAD-NYU1026 COSM368308 c.564C>G p.I188M Substitution - Missense 20:3122075-3122075 - TCGA-AP-A059-01 COSM1025742 c.194G>T p.R65M Substitution - Missense 20:3122445-3122445 - TCGA-A4-7583-01 COSM3991630 c.320C>T p.P107L Substitution - Missense 20:3122319-3122319 - RK190_C01 COSM3740081 c.58T>G p.S20A Substitution - Missense 20:3122581-3122581 - CSCC-62-T COSM4528509 c.1540G>A p.G514S Substitution - Missense 20:3110192-3110192 - TCGA-B9-4114-01 COSM3991627 c.1435C>T p.L479L Substitution - coding silent 20:3110297-3110297 - 2492723 COSM5723067 c.498C>T p.S166S Substitution - coding silent 20:3122141-3122141 - Au4 COSM5605259 c.337G>A p.E113K Substitution - Missense 20:3122302-3122302 - ESO-859 COSM1240598 c.902G>A p.R301Q Substitution - Missense 20:3121737-3121737 - TCGA-B5-A0JY-01 COSM1025725 c.1086G>T p.Q362H Substitution - Missense 20:3121553-3121553 - COLO678 COSM2889321 c.388G>A p.V130M Substitution - Missense 20:3122251-3122251 - 2492721 COSM5723067 c.498C>T p.S166S Substitution - coding silent 20:3122141-3122141 - TCGA-DK-A2I4-01 COSM3799424 c.1543G>A p.E515K Substitution - Missense 20:3110189-3110189 - T3603 COSM4738778 c.1512C>T p.C504C Substitution - coding silent 20:3110220-3110220 - CHC1425T COSM3668429 c.835C>T p.P279S Substitution - Missense 20:3121804-3121804 - TCGA-D1-A17H-01 COSM1025738 c.798C>A p.P266P Substitution - coding silent 20:3121841-3121841 - J54_T COSM3963472 c.130G>T p.E44* Substitution - Nonsense 20:3122509-3122509 - YUSIV COSM5391817 c.505C>T p.H169Y Substitution - Missense 20:3122134-3122134 - TCGA-ER-A19M-06 COSM3545272 c.555C>T p.I185I Substitution - coding silent 20:3122084-3122084 - TCGA-A2-A0YD-01 COSM443633 c.1294G>A p.E432K Substitution - Missense 20:3115428-3115428 - 526LT COSM4382365 c.1300G>A p.A434T Substitution - Missense 20:3115422-3115422 - TCGA-30-1853-01 COSM116850 c.1597A>G p.S533G Substitution - Missense 20:3110135-3110135 - TCGA-B8-5162-01 COSM1495034 c.839C>A p.S280* Substitution - Nonsense 20:3121800-3121800 - TCGA-A6-5665-01 COSM1411101 c.928delG p.V310fs*1 Deletion - Frameshift 20:3121711-3121711 - PR-00-1165 COSM248180 c.332A>G p.D111G Substitution - Missense 20:3122307-3122307 - CSCC-10-T COSM3545272 c.555C>T p.I185I Substitution - coding silent 20:3122084-3122084 - SWE-4A COSM1179510 c.987C>A p.D329E Substitution - Missense 20:3121652-3121652 - A3 COSM5350580 c.618A>T p.I206I Substitution - coding silent 20:3122021-3122021 - TCGA-AM-5821-01 COSM3758513 c.1436T>C p.L479P Substitution - Missense 20:3110296-3110296 - HCT15 COSM2889195 c.1553G>A p.R518H Substitution - Missense 20:3110179-3110179 - HCC151T COSM5808718 c.1489G>C p.E497Q Substitution - Missense 20:3110243-3110243 - TCGA-29-2427-01 COSM80718 c.651G>A p.L217L Substitution - coding silent 20:3121988-3121988 - T263 COSM178558 c.72C>T p.Y24Y Substitution - coding silent 20:3122567-3122567 - S02139 COSM5674388 c.1307C>T p.A436V Substitution - Missense 20:3115415-3115415 - 2492720 COSM5723067 c.498C>T p.S166S Substitution - coding silent 20:3122141-3122141 - TCGA-AS-3778-01 COSM478005 c.588G>T p.Q196H Substitution - Missense 20:3122051-3122051 - HCT8 COSM2889195 c.1553G>A p.R518H Substitution - Missense 20:3110179-3110179 - CP66-MEL COSM27214 c.1475C>T p.P492L Substitution - Missense 20:3110257-3110257 - pfg008T COSM1641321 c.231C>T p.N77N Substitution - coding silent 20:3122408-3122408 - BD114T COSM5504628 c.557C>A p.P186H Substitution - Missense 20:3122082-3122082 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.654646 20p13 2463989|CGAP|BC000515|A/C|non-coding||1967|Validated; 2463989|CGAP|BC046122|A/C|non-coding||1845|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.C416R c.1246T>C 20 3102039 HNSC C A Missense p.D374Y c.1120G>T 20 3102165 SCLC C A Missense p.W160C c.480G>T 20 3102805 LUAD C A Synonymous p.V170V c.510G>T 20 3102775 LUAD C T IntronicSNV . c.1418-81G>A 20 3091041 CM C T Missense p.E432K c.1294G>A 20 3096074 BRCA C T Missense p.E515K c.1543G>A 20 3090835 BLCA C T Missense p.G23D c.68G>A 20 3103217 RCCC C T Missense p.G505S c.1513G>A 20 3090865 THCA C T Missense p.R301Q c.902G>A 20 3102383 ESCA C T Synonymous p.L217L c.651G>A 20 3102634 OV GA - 3-UTRDeletion . c.1623+1391_1623+1392delTC 20 3089363 CM G A Missense p.P8S c.22C>T 20 3103990 CM G A Missense p.S417L c.1250C>T 20 3102035 BLCA G A Synonymous p.N77N c.231C>T 20 3103054 STAD G A Synonymous p.S202S c.606C>T 20 3102679 CM G T Missense p.S465Y c.1394C>A 20 3095974 LUAD G T Synonymous p.P266P c.798C>A 20 3102487 UCEC T C Missense p.S533G c.1597A>G 20 3090781 OV T C Missense p.T200A c.598A>G 20 3102687 COREAD T C Missense p.T464A c.1390A>G 20 3095978 LUSC