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 21 45706895 45706895 + Silent SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 g.chr21:45706895G>A c.342G>A c.(340-342)aaG>aaA p.K114K BLCA 21 45706995 45706995 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr21:45706995C>G c.442C>G c.(442-444)Cca>Gca p.P148A BLCA 21 45710921 45710921 + Intron SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr21:45710921C>G BRCA 21 45717585 45717585 + Missense_Mutation SNP G G A TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr21:45717585G>A c.1613G>A c.(1612-1614)cGt>cAt p.R538H CESC 21 45709596 45709596 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr21:45709596G>A c.709G>A c.(709-711)Gaa>Aaa p.E237K CESC 21 45711044 45711044 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 g.chr21:45711044C>T c.946C>T c.(946-948)Cgg>Tgg p.R316W CESC 21 45711046 45711046 + Silent SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 g.chr21:45711046G>T c.948G>T c.(946-948)cgG>cgT p.R316R CESC 21 45714338 45714338 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 g.chr21:45714338G>T c.1455G>T c.(1453-1455)gaG>gaT p.E485D COAD 21 45706601 45706601 + Missense_Mutation SNP C C A TCGA-AA-3994-01A-01W-1073-09 TCGA-AA-3994-10A-01W-1073-09 g.chr21:45706601C>A c.294C>A c.(292-294)gaC>gaA p.D98E COAD 21 45706941 45706941 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr21:45706941A>G c.388A>G c.(388-390)Acc>Gcc p.T130A COAD 21 45710773 45710773 + Intron DEL G G - TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr21:45710773delG COADREAD 21 45705994 45705994 + Silent SNP C C T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr21:45705994C>T c.105C>T c.(103-105)caC>caT p.H35H COADREAD 21 45706601 45706601 + Missense_Mutation SNP C C A TCGA-AA-3994-01A-01W-1073-09 TCGA-AA-3994-10A-01W-1073-09 g.chr21:45706601C>A c.294C>A c.(292-294)gaC>gaA p.D98E COADREAD 21 45706941 45706941 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr21:45706941A>G c.388A>G c.(388-390)Acc>Gcc p.T130A COADREAD 21 45710773 45710773 + Intron DEL G G - TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr21:45710773delG DLBC 21 45712983 45712983 + Silent SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr21:45712983T>C c.1203T>C c.(1201-1203)ccT>ccC p.P401P DLBC 21 45712983 45712983 + Silent SNP T T C TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr21:45712983T>C c.1203T>C c.(1201-1203)ccT>ccC p.P401P ESCA 21 45706439 45706439 + Splice_Site SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 g.chr21:45706439G>T c.e2-1 ESCA 21 45710820 45710820 + Intron SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 g.chr21:45710820G>A GBM 21 45706905 45706905 + Missense_Mutation SNP G G A TCGA-12-5299-01A-02D-1486-08 TCGA-12-5299-10A-01D-1486-08 g.chr21:45706905G>A c.352G>A c.(352-354)Gtc>Atc p.V118I GBMLGG 21 45706905 45706905 + Missense_Mutation SNP G G A TCGA-12-5299-01A-02D-1486-08 TCGA-12-5299-10A-01D-1486-08 g.chr21:45706905G>A c.352G>A c.(352-354)Gtc>Atc p.V118I GBMLGG 21 45713694 45713694 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:45713694G>A c.1301G>A c.(1300-1302)tGc>tAc p.C434Y HNSC 21 45708269 45708269 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr21:45708269A>T c.580A>T c.(580-582)Atg>Ttg p.M194L HNSC 21 45708290 45708290 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr21:45708290G>A c.601G>A c.(601-603)Gga>Aga p.G201R HNSC 21 45709685 45709685 + Splice_Site SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 g.chr21:45709685C>T c.798C>T c.(796-798)ccC>ccT p.P266P HNSC 21 45710865 45710865 + Intron SNP G G T TCGA-CV-A45W-01A-11D-A25D-08 TCGA-CV-A45W-10A-01D-A25E-08 g.chr21:45710865G>T LGG 21 45713694 45713694 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:45713694G>A c.1301G>A c.(1300-1302)tGc>tAc p.C434Y LIHC 21 45707002 45707002 + Missense_Mutation SNP G G T TCGA-DD-AAW2-01A-11D-A40P-10 TCGA-DD-AAW2-10A-01D-A40P-10 g.chr21:45707002G>T c.449G>T c.(448-450)gGc>gTc p.G150V LIHC 21 45707420 45707420 + Frame_Shift_Del DEL C C - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr21:45707420delC c.484delC c.(484-486)cccfs p.P163fs LIHC 21 45709596 45709596 + Missense_Mutation SNP G G A TCGA-DD-A3A9-01A-11D-A25V-10 TCGA-DD-A3A9-11A-11D-A25V-10 g.chr21:45709596G>A c.709G>A c.(709-711)Gaa>Aaa p.E237K LIHC 21 45712255 45712255 + Missense_Mutation SNP C C T TCGA-DD-A11A-01A-11D-A12Z-10 TCGA-DD-A11A-10A-01D-A12Z-10 g.chr21:45712255C>T c.1066C>T c.(1066-1068)Cgg>Tgg p.R356W LUAD 21 45707006 45707006 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 g.chr21:45707006C>T c.453C>T c.(451-453)acC>acT p.T151T LUAD 21 45708262 45708262 + Silent SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 g.chr21:45708262T>A c.573T>A c.(571-573)gcT>gcA p.A191A LUAD 21 45709652 45709652 + Silent SNP G G T TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr21:45709652G>T c.765G>T c.(763-765)ctG>ctT p.L255L LUAD 21 45709916 45709916 + Missense_Mutation SNP C C A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr21:45709916C>A c.844C>A c.(844-846)Cct>Act p.P282T LUAD 21 45710773 45710773 + Intron SNP G G C TCGA-05-5428-01A-01D-1625-08 TCGA-05-5428-10A-01D-1625-08 g.chr21:45710773G>C LUAD 21 45711020 45711020 + Missense_Mutation SNP C C G TCGA-99-8025-01A-11D-2238-08 TCGA-99-8025-10A-01D-2238-08 g.chr21:45711020C>G c.922C>G c.(922-924)Ctc>Gtc p.L308V LUAD 21 45711088 45711088 + Silent SNP C C A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 g.chr21:45711088C>A c.990C>A c.(988-990)atC>atA p.I330I LUAD 21 45712930 45712930 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 g.chr21:45712930C>G c.1150C>G c.(1150-1152)Ccc>Gcc p.P384A LUAD 21 45713696 45713696 + Missense_Mutation SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 g.chr21:45713696G>A c.1303G>A c.(1303-1305)Ggg>Agg p.G435R LUAD 21 45713743 45713743 + Silent SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 g.chr21:45713743C>G c.1350C>G c.(1348-1350)gcC>gcG p.A450A LUSC 21 45706878 45706878 + Missense_Mutation SNP C C A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 g.chr21:45706878C>A c.325C>A c.(325-327)Ccc>Acc p.P109T LUSC 21 45709879 45709879 + Silent SNP T T C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 g.chr21:45709879T>C c.807T>C c.(805-807)ggT>ggC p.G269G LUSC 21 45713059 45713059 + Splice_Site SNP G G T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 g.chr21:45713059G>T c.e10+1 OV 21 45712971 45712971 + Silent SNP G G T TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 g.chr21:45712971G>T c.1191G>T c.(1189-1191)ctG>ctT p.L397L PAAD 21 45710997 45710997 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 g.chr21:45710997C>T c.899C>T c.(898-900)gCc>gTc p.A300V PAAD 21 45713016 45713016 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:45713016G>A c.1236G>A c.(1234-1236)tcG>tcA p.S412S PAAD 21 45713671 45713671 + Splice_Site SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:45713671G>T c.e11-1 READ 21 45705994 45705994 + Silent SNP C C T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr21:45705994C>T c.105C>T c.(103-105)caC>caT p.H35H SKCM 21 45706614 45706614 + Splice_Site SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr21:45706614G>A c.307G>A c.(307-309)Gat>Aat p.D103N SKCM 21 45706897 45706897 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr21:45706897C>T c.344C>T c.(343-345)cCc>cTc p.P115L SKCM 21 45706946 45706946 + Silent SNP G G A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 g.chr21:45706946G>A c.393G>A c.(391-393)aaG>aaA p.K131K SKCM 21 45706962 45706962 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr21:45706962G>A c.409G>A c.(409-411)Gag>Aag p.E137K SKCM 21 45708297 45708297 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr21:45708297G>A c.608G>A c.(607-609)cGa>cAa p.R203Q SKCM 21 45708302 45708302 + Missense_Mutation SNP G G A TCGA-EE-A2A5-06A-11D-A197-08 TCGA-EE-A2A5-10A-01D-A199-08 g.chr21:45708302G>A c.613G>A c.(613-615)Gcc>Acc p.A205T SKCM 21 45709622 45709622 + Silent SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 g.chr21:45709622G>A c.735G>A c.(733-735)aaG>aaA p.K245K SKCM 21 45709910 45709910 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr21:45709910C>T c.838C>T c.(838-840)Ccc>Tcc p.P280S SKCM 21 45709924 45709924 + Silent SNP C C T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 g.chr21:45709924C>T c.852C>T c.(850-852)gcC>gcT p.A284A SKCM 21 45710883 45710883 + Intron SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr21:45710883G>A SKCM 21 45711070 45711070 + Silent SNP C C T TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr21:45711070C>T c.972C>T c.(970-972)tcC>tcT p.S324S SKCM 21 45711070 45711070 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr21:45711070C>T c.972C>T c.(970-972)tcC>tcT p.S324S SKCM 21 45711083 45711083 + Missense_Mutation SNP G G A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr21:45711083G>A c.985G>A c.(985-987)Gag>Aag p.E329K SKCM 21 45711088 45711088 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr21:45711088C>T c.990C>T c.(988-990)atC>atT p.I330I SKCM 21 45712878 45712878 + Silent SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr21:45712878C>T c.1098C>T c.(1096-1098)ctC>ctT p.L366L SKCM 21 45712879 45712879 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr21:45712879C>T c.1099C>T c.(1099-1101)Ccc>Tcc p.P367S SKCM 21 45712900 45712900 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr21:45712900G>A c.1120G>A c.(1120-1122)Gga>Aga p.G374R SKCM 21 45716284 45716284 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr21:45716284G>A c.1522G>A c.(1522-1524)Gag>Aag p.E508K

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 21 45710952 45710952 single base substitution G A exon_variant BLCA-CN 21 45710952 45710952 single base substitution G A intron_variant BLCA-CN 21 45712898 45712898 single base substitution C T exon_variant BLCA-CN 21 45712898 45712898 single base substitution C T missense_variant A166V 497C>T BLCA-CN 21 45712898 45712898 single base substitution C T missense_variant A373V 1118C>T BLCA-CN 21 45712927 45712927 single base substitution G A exon_variant BLCA-CN 21 45712927 45712927 single base substitution G A intron_variant BLCA-CN 21 45712927 45712927 single base substitution G A missense_variant E176K 526G>A BLCA-CN 21 45712927 45712927 single base substitution G A missense_variant E383K 1147G>A BLCA-US 21 45706995 45706995 single base substitution C G exon_variant BLCA-US 21 45706995 45706995 single base substitution C G missense_variant P148A 442C>G BLCA-US 21 45706995 45706995 single base substitution C G upstream_gene_variant BRCA-EU 21 45701560 45701560 single base substitution T C upstream_gene_variant BRCA-EU 21 45701915 45701915 single base substitution G T upstream_gene_variant BRCA-EU 21 45702489 45702489 single base substitution C T upstream_gene_variant BRCA-EU 21 45702689 45702689 single base substitution G C upstream_gene_variant BRCA-EU 21 45704053 45704053 single base substitution C T upstream_gene_variant BRCA-EU 21 45704104 45704104 single base substitution G C upstream_gene_variant BRCA-EU 21 45704253 45704253 single base substitution C A upstream_gene_variant BRCA-EU 21 45704568 45704568 single base substitution G C upstream_gene_variant BRCA-EU 21 45705242 45705242 single base substitution C T upstream_gene_variant BRCA-EU 21 45705526 45705526 single base substitution C T upstream_gene_variant BRCA-EU 21 45706672 45706672 single base substitution C G intron_variant BRCA-EU 21 45706672 45706672 single base substitution C G upstream_gene_variant BRCA-EU 21 45707357 45707357 single base substitution C A exon_variant BRCA-EU 21 45707357 45707357 single base substitution C A intron_variant BRCA-EU 21 45707357 45707357 single base substitution C A upstream_gene_variant BRCA-EU 21 45707444 45707444 single base substitution G A exon_variant BRCA-EU 21 45707444 45707444 single base substitution G A missense_variant A170T 508G>A BRCA-EU 21 45707444 45707444 single base substitution G A upstream_gene_variant BRCA-EU 21 45707467 45707467 single base substitution C G exon_variant BRCA-EU 21 45707467 45707467 single base substitution C G synonymous_variant L177L 531C>G BRCA-EU 21 45707467 45707467 single base substitution C G upstream_gene_variant BRCA-EU 21 45708136 45708136 single base substitution C G intron_variant BRCA-EU 21 45708136 45708136 single base substitution C G upstream_gene_variant BRCA-EU 21 45709002 45709002 single base substitution T C exon_variant BRCA-EU 21 45709002 45709002 single base substitution T C intron_variant BRCA-EU 21 45709002 45709002 single base substitution T C upstream_gene_variant BRCA-EU 21 45712615 45712615 single base substitution G A intron_variant BRCA-EU 21 45714981 45714981 deletion of <=200bp G - intron_variant BRCA-EU 21 45715122 45715122 single base substitution C A intron_variant BRCA-EU 21 45715325 45715325 single base substitution G C intron_variant BRCA-EU 21 45717142 45717142 single base substitution C G intron_variant BRCA-EU 21 45717614 45717614 single base substitution C T 3_prime_UTR_variant BRCA-EU 21 45717614 45717614 single base substitution C T exon_variant BRCA-EU 21 45720602 45720602 single base substitution G A downstream_gene_variant BRCA-EU 21 45722052 45722052 single base substitution C T downstream_gene_variant BRCA-FR 21 45704104 45704104 single base substitution G C upstream_gene_variant BRCA-FR 21 45704568 45704568 single base substitution G C upstream_gene_variant BRCA-FR 21 45706714 45706714 single base substitution G A intron_variant BRCA-FR 21 45706714 45706714 single base substitution G A upstream_gene_variant BRCA-FR 21 45709677 45709677 single base substitution G A exon_variant BRCA-FR 21 45709677 45709677 single base substitution G A missense_variant A264T 790G>A BRCA-FR 21 45709677 45709677 single base substitution G A upstream_gene_variant BRCA-US 21 45717585 45717585 single base substitution G A 3_prime_UTR_variant BRCA-US 21 45717585 45717585 single base substitution G A exon_variant BRCA-US 21 45717585 45717585 single base substitution G A missense_variant R331H 992G>A BRCA-US 21 45717585 45717585 single base substitution G A missense_variant R538H 1613G>A BTCA-JP 21 45706823 45706823 single base substitution C A intron_variant BTCA-JP 21 45706823 45706823 single base substitution C A upstream_gene_variant BTCA-JP 21 45707516 45707516 deletion of <=200bp A - intron_variant BTCA-JP 21 45707516 45707516 deletion of <=200bp A - upstream_gene_variant BTCA-JP 21 45710681 45710681 single base substitution G A exon_variant BTCA-JP 21 45710681 45710681 single base substitution G A intron_variant BTCA-JP 21 45710681 45710681 single base substitution G A upstream_gene_variant BTCA-JP 21 45711075 45711075 single base substitution C T exon_variant BTCA-JP 21 45711075 45711075 single base substitution C T missense_variant P119L 356C>T BTCA-JP 21 45711075 45711075 single base substitution C T missense_variant P326L 977C>T BTCA-JP 21 45717379 45717379 single base substitution T G intron_variant BTCA-JP 21 45717641 45717642 deletion of <=200bp GA - 3_prime_UTR_variant BTCA-JP 21 45717641 45717642 deletion of <=200bp GA - downstream_gene_variant BTCA-JP 21 45717641 45717642 deletion of <=200bp GA - exon_variant CESC-US 21 45709596 45709596 single base substitution G A exon_variant CESC-US 21 45709596 45709596 single base substitution G A missense_variant E237K 709G>A CESC-US 21 45709596 45709596 single base substitution G A upstream_gene_variant CESC-US 21 45711044 45711044 single base substitution C T exon_variant CESC-US 21 45711044 45711044 single base substitution C T missense_variant R109W 325C>T CESC-US 21 45711044 45711044 single base substitution C T missense_variant R316W 946C>T CESC-US 21 45711046 45711046 single base substitution G T exon_variant CESC-US 21 45711046 45711046 single base substitution G T synonymous_variant R109R 327G>T CESC-US 21 45711046 45711046 single base substitution G T synonymous_variant R316R 948G>T CESC-US 21 45714338 45714338 single base substitution G T 3_prime_UTR_variant CESC-US 21 45714338 45714338 single base substitution G T exon_variant CESC-US 21 45714338 45714338 single base substitution G T missense_variant E278D 834G>T CESC-US 21 45714338 45714338 single base substitution G T missense_variant E485D 1455G>T CLLE-ES 21 45700964 45700964 single base substitution A T upstream_gene_variant CLLE-ES 21 45709836 45709836 single base substitution G T intron_variant CLLE-ES 21 45709836 45709836 single base substitution G T upstream_gene_variant COAD-US 21 45709568 45709568 single base substitution C T exon_variant COAD-US 21 45709568 45709568 single base substitution C T synonymous_variant G227G 681C>T COAD-US 21 45709568 45709568 single base substitution C T upstream_gene_variant COAD-US 21 45710773 45710773 deletion of <=200bp G - exon_variant COAD-US 21 45710773 45710773 deletion of <=200bp G - frameshift_variant P28 COAD-US 21 45710773 45710773 deletion of <=200bp G - intron_variant COAD-US 21 45712254 45712254 single base substitution C T exon_variant COAD-US 21 45712254 45712254 single base substitution C T synonymous_variant P148P 444C>T COAD-US 21 45712254 45712254 single base substitution C T synonymous_variant P355P 1065C>T COAD-US 21 45712977 45712977 single base substitution T C exon_variant COAD-US 21 45712977 45712977 single base substitution T C intron_variant COAD-US 21 45712977 45712977 single base substitution T C synonymous_variant A192A 576T>C COAD-US 21 45712977 45712977 single base substitution T C synonymous_variant A399A 1197T>C COCA-CN 21 45710000 45710000 single base substitution C T intron_variant COCA-CN 21 45710000 45710000 single base substitution C T upstream_gene_variant COCA-CN 21 45710725 45710725 single base substitution G A exon_variant COCA-CN 21 45710725 45710725 single base substitution G A intron_variant COCA-CN 21 45710725 45710725 single base substitution G A synonymous_variant T12T 36G>A COCA-CN 21 45710748 45710748 single base substitution T G exon_variant COCA-CN 21 45710748 45710748 single base substitution T G intron_variant COCA-CN 21 45710748 45710748 single base substitution T G missense_variant V20G 59T>G COCA-CN 21 45712290 45712290 single base substitution G A splice_region_variant COCA-CN 21 45712945 45712945 single base substitution G A exon_variant COCA-CN 21 45712945 45712945 single base substitution G A intron_variant COCA-CN 21 45712945 45712945 single base substitution G A missense_variant D182N 544G>A COCA-CN 21 45712945 45712945 single base substitution G A missense_variant D389N 1165G>A COCA-CN 21 45714395 45714395 single base substitution C T intron_variant COCA-CN 21 45718942 45718942 single base substitution C A downstream_gene_variant ESAD-UK 21 45702110 45702110 single base substitution C A upstream_gene_variant ESAD-UK 21 45702152 45702152 single base substitution C T upstream_gene_variant ESAD-UK 21 45705517 45705517 single base substitution G A upstream_gene_variant ESAD-UK 21 45706531 45706531 single base substitution T C exon_variant ESAD-UK 21 45706531 45706531 single base substitution T C missense_variant L75P 224T>C ESAD-UK 21 45706531 45706531 single base substitution T C upstream_gene_variant ESAD-UK 21 45706900 45706900 single base substitution C T exon_variant ESAD-UK 21 45706900 45706900 single base substitution C T missense_variant P116L 347C>T ESAD-UK 21 45706900 45706900 single base substitution C T upstream_gene_variant ESAD-UK 21 45707611 45707611 single base substitution C T intron_variant ESAD-UK 21 45707611 45707611 single base substitution C T upstream_gene_variant ESAD-UK 21 45713015 45713015 single base substitution C T exon_variant ESAD-UK 21 45713015 45713015 single base substitution C T missense_variant R178W 532C>T ESAD-UK 21 45713015 45713015 single base substitution C T missense_variant S205L 614C>T ESAD-UK 21 45713015 45713015 single base substitution C T missense_variant S412L 1235C>T ESAD-UK 21 45714802 45714802 single base substitution G A intron_variant ESAD-UK 21 45716185 45716185 single base substitution C T intron_variant ESAD-UK 21 45721749 45721749 insertion of <=200bp - C downstream_gene_variant ESCA-CN 21 45707447 45707447 single base substitution G C exon_variant ESCA-CN 21 45707447 45707447 single base substitution G C missense_variant E171Q 511G>C ESCA-CN 21 45707447 45707447 single base substitution G C upstream_gene_variant ESCA-CN 21 45708237 45708237 single base substitution C A exon_variant ESCA-CN 21 45708237 45708237 single base substitution C A missense_variant T183N 548C>A ESCA-CN 21 45708237 45708237 single base substitution C A upstream_gene_variant ESCA-CN 21 45717412 45717412 single base substitution G A intron_variant GBM-US 21 45706905 45706905 single base substitution G A exon_variant GBM-US 21 45706905 45706905 single base substitution G A missense_variant V118I 352G>A GBM-US 21 45706905 45706905 single base substitution G A upstream_gene_variant KIRC-US 21 45717550 45717550 single base substitution T C 3_prime_UTR_variant KIRC-US 21 45717550 45717550 single base substitution T C exon_variant KIRC-US 21 45717550 45717550 single base substitution T C synonymous_variant D319D 957T>C KIRC-US 21 45717550 45717550 single base substitution T C synonymous_variant D526D 1578T>C LAML-KR 21 45723309 45723309 single base substitution A C downstream_gene_variant LICA-CN 21 45709665 45709665 single base substitution G A exon_variant LICA-CN 21 45709665 45709665 single base substitution G A missense_variant G260R 778G>A LICA-CN 21 45709665 45709665 single base substitution G A upstream_gene_variant LICA-CN 21 45709931 45709931 single base substitution A T exon_variant LICA-CN 21 45709931 45709931 single base substitution A T missense_variant S287C 859A>T LICA-CN 21 45709931 45709931 single base substitution A T upstream_gene_variant LICA-FR 21 45710773 45710773 deletion of <=200bp G - exon_variant LICA-FR 21 45710773 45710773 deletion of <=200bp G - frameshift_variant P28 LICA-FR 21 45710773 45710773 deletion of <=200bp G - intron_variant LICA-FR 21 45717161 45717161 single base substitution G T intron_variant LIHC-US 21 45709596 45709596 single base substitution G A exon_variant LIHC-US 21 45709596 45709596 single base substitution G A missense_variant E237K 709G>A LIHC-US 21 45709596 45709596 single base substitution G A upstream_gene_variant LIHC-US 21 45712255 45712255 single base substitution C T exon_variant LIHC-US 21 45712255 45712255 single base substitution C T missense_variant R149W 445C>T LIHC-US 21 45712255 45712255 single base substitution C T missense_variant R356W 1066C>T LINC-JP 21 45701386 45701386 single base substitution C T upstream_gene_variant LINC-JP 21 45704727 45704727 single base substitution A G upstream_gene_variant LINC-JP 21 45707480 45707480 single base substitution C T splice_region_variant LINC-JP 21 45707480 45707480 single base substitution C T upstream_gene_variant LINC-JP 21 45709698 45709698 single base substitution C A intron_variant LINC-JP 21 45709698 45709698 single base substitution C A upstream_gene_variant LINC-JP 21 45709779 45709779 single base substitution G A intron_variant LINC-JP 21 45709779 45709779 single base substitution G A upstream_gene_variant LINC-JP 21 45712974 45712974 single base substitution G A exon_variant LINC-JP 21 45712974 45712974 single base substitution G A intron_variant LINC-JP 21 45712974 45712974 single base substitution G A synonymous_variant P191P 573G>A LINC-JP 21 45712974 45712974 single base substitution G A synonymous_variant P398P 1194G>A LINC-JP 21 45717605 45717605 single base substitution T A 3_prime_UTR_variant LINC-JP 21 45717605 45717605 single base substitution T A exon_variant LINC-JP 21 45717605 45717605 single base substitution T A missense_variant S338T 1012T>A LINC-JP 21 45717605 45717605 single base substitution T A missense_variant S545T 1633T>A LINC-JP 21 45720873 45720873 single base substitution G T downstream_gene_variant LINC-JP 21 45721624 45721624 single base substitution T G downstream_gene_variant LINC-JP 21 45723306 45723306 single base substitution C A downstream_gene_variant LIRI-JP 21 45701319 45701319 single base substitution A G upstream_gene_variant LIRI-JP 21 45703605 45703605 single base substitution T C upstream_gene_variant LIRI-JP 21 45708367 45708367 single base substitution G T exon_variant LIRI-JP 21 45708367 45708367 single base substitution G T intron_variant LIRI-JP 21 45708367 45708367 single base substitution G T upstream_gene_variant LIRI-JP 21 45710344 45710344 single base substitution C T intron_variant LIRI-JP 21 45710344 45710344 single base substitution C T upstream_gene_variant LIRI-JP 21 45710565 45710565 single base substitution G T intron_variant LIRI-JP 21 45710565 45710565 single base substitution G T upstream_gene_variant LUSC-KR 21 45710410 45710410 single base substitution C G intron_variant LUSC-KR 21 45710410 45710410 single base substitution C G upstream_gene_variant LUSC-KR 21 45710528 45710528 single base substitution G C intron_variant LUSC-KR 21 45710528 45710528 single base substitution G C upstream_gene_variant LUSC-KR 21 45710681 45710681 single base substitution G A exon_variant LUSC-KR 21 45710681 45710681 single base substitution G A intron_variant LUSC-KR 21 45710681 45710681 single base substitution G A upstream_gene_variant LUSC-KR 21 45711769 45711769 single base substitution T A intron_variant LUSC-KR 21 45713317 45713317 single base substitution G T intron_variant LUSC-KR 21 45714256 45714256 single base substitution G C intron_variant LUSC-KR 21 45714256 45714256 single base substitution G C splice_region_variant LUSC-KR 21 45716135 45716135 single base substitution G A intron_variant LUSC-KR 21 45716197 45716197 single base substitution C G intron_variant LUSC-US 21 45706878 45706878 single base substitution C A exon_variant LUSC-US 21 45706878 45706878 single base substitution C A missense_variant P109T 325C>A LUSC-US 21 45706878 45706878 single base substitution C A upstream_gene_variant LUSC-US 21 45709879 45709879 single base substitution T C exon_variant LUSC-US 21 45709879 45709879 single base substitution T C synonymous_variant G269G 807T>C LUSC-US 21 45709879 45709879 single base substitution T C upstream_gene_variant LUSC-US 21 45713059 45713059 single base substitution G T splice_donor_variant MALY-DE 21 45708762 45708762 single base substitution C T exon_variant MALY-DE 21 45708762 45708762 single base substitution C T intron_variant MALY-DE 21 45708762 45708762 single base substitution C T upstream_gene_variant MALY-DE 21 45720314 45720314 single base substitution C T downstream_gene_variant MELA-AU 21 45700873 45700873 single base substitution C T upstream_gene_variant MELA-AU 21 45701115 45701115 single base substitution G A upstream_gene_variant MELA-AU 21 45701137 45701137 single base substitution G A upstream_gene_variant MELA-AU 21 45701204 45701204 single base substitution A T upstream_gene_variant MELA-AU 21 45701536 45701536 single base substitution G A upstream_gene_variant MELA-AU 21 45701577 45701577 single base substitution C T upstream_gene_variant MELA-AU 21 45701580 45701580 single base substitution C T upstream_gene_variant MELA-AU 21 45701801 45701801 single base substitution C T upstream_gene_variant MELA-AU 21 45701811 45701811 single base substitution C T upstream_gene_variant MELA-AU 21 45701868 45701868 single base substitution G A upstream_gene_variant MELA-AU 21 45702084 45702084 single base substitution G A upstream_gene_variant MELA-AU 21 45702155 45702155 single base substitution G A upstream_gene_variant MELA-AU 21 45702318 45702318 single base substitution C T upstream_gene_variant MELA-AU 21 45702340 45702340 single base substitution G A upstream_gene_variant MELA-AU 21 45702377 45702377 single base substitution C T upstream_gene_variant MELA-AU 21 45702433 45702433 single base substitution G A upstream_gene_variant MELA-AU 21 45702486 45702486 single base substitution G A upstream_gene_variant MELA-AU 21 45702541 45702541 single base substitution C T upstream_gene_variant MELA-AU 21 45702639 45702639 single base substitution C T upstream_gene_variant MELA-AU 21 45702734 45702734 single base substitution G A upstream_gene_variant MELA-AU 21 45702748 45702748 single base substitution G A upstream_gene_variant MELA-AU 21 45702796 45702796 single base substitution G A upstream_gene_variant MELA-AU 21 45702935 45702935 single base substitution G A upstream_gene_variant MELA-AU 21 45702956 45702956 single base substitution C T upstream_gene_variant MELA-AU 21 45703165 45703165 single base substitution G A upstream_gene_variant MELA-AU 21 45703764 45703764 single base substitution A G upstream_gene_variant MELA-AU 21 45703824 45703824 single base substitution C T upstream_gene_variant MELA-AU 21 45703883 45703883 single base substitution G A upstream_gene_variant MELA-AU 21 45704230 45704230 single base substitution G A upstream_gene_variant MELA-AU 21 45704316 45704316 single base substitution C T upstream_gene_variant MELA-AU 21 45704469 45704469 single base substitution G A upstream_gene_variant MELA-AU 21 45704541 45704541 single base substitution A C upstream_gene_variant MELA-AU 21 45704673 45704673 single base substitution C G upstream_gene_variant MELA-AU 21 45704826 45704826 single base substitution C T upstream_gene_variant MELA-AU 21 45705042 45705042 single base substitution G A upstream_gene_variant MELA-AU 21 45705588 45705588 single base substitution G T upstream_gene_variant MELA-AU 21 45706240 45706240 single base substitution G A intron_variant MELA-AU 21 45706240 45706240 single base substitution G A upstream_gene_variant MELA-AU 21 45706718 45706718 single base substitution G A intron_variant MELA-AU 21 45706718 45706718 single base substitution G A upstream_gene_variant MELA-AU 21 45706887 45706887 single base substitution G A exon_variant MELA-AU 21 45706887 45706887 single base substitution G A missense_variant G112R 334G>A MELA-AU 21 45706887 45706887 single base substitution G A upstream_gene_variant MELA-AU 21 45707085 45707085 single base substitution C T exon_variant MELA-AU 21 45707085 45707085 single base substitution C T intron_variant MELA-AU 21 45707085 45707085 single base substitution C T upstream_gene_variant MELA-AU 21 45707108 45707108 single base substitution C T exon_variant MELA-AU 21 45707108 45707108 single base substitution C T intron_variant MELA-AU 21 45707108 45707108 single base substitution C T upstream_gene_variant MELA-AU 21 45707518 45707518 single base substitution G A intron_variant MELA-AU 21 45707518 45707518 single base substitution G A upstream_gene_variant MELA-AU 21 45707739 45707739 single base substitution C T intron_variant MELA-AU 21 45707739 45707739 single base substitution C T upstream_gene_variant MELA-AU 21 45708105 45708105 single base substitution C T intron_variant MELA-AU 21 45708105 45708105 single base substitution C T upstream_gene_variant MELA-AU 21 45708219 45708219 single base substitution C T intron_variant MELA-AU 21 45708219 45708219 single base substitution C T upstream_gene_variant MELA-AU 21 45708358 45708358 single base substitution G A exon_variant MELA-AU 21 45708358 45708358 single base substitution G A intron_variant MELA-AU 21 45708358 45708358 single base substitution G A upstream_gene_variant MELA-AU 21 45708359 45708359 single base substitution G A exon_variant MELA-AU 21 45708359 45708359 single base substitution G A intron_variant MELA-AU 21 45708359 45708359 single base substitution G A upstream_gene_variant MELA-AU 21 45708400 45708400 single base substitution G A exon_variant MELA-AU 21 45708400 45708400 single base substitution G A intron_variant MELA-AU 21 45708400 45708400 single base substitution G A upstream_gene_variant MELA-AU 21 45708528 45708528 single base substitution G A exon_variant MELA-AU 21 45708528 45708528 single base substitution G A intron_variant MELA-AU 21 45708528 45708528 single base substitution G A upstream_gene_variant MELA-AU 21 45708735 45708735 single base substitution C T exon_variant MELA-AU 21 45708735 45708735 single base substitution C T intron_variant MELA-AU 21 45708735 45708735 single base substitution C T upstream_gene_variant MELA-AU 21 45708958 45708958 single base substitution G A exon_variant MELA-AU 21 45708958 45708958 single base substitution G A intron_variant MELA-AU 21 45708958 45708958 single base substitution G A upstream_gene_variant MELA-AU 21 45709402 45709402 single base substitution G A exon_variant MELA-AU 21 45709402 45709402 single base substitution G A intron_variant MELA-AU 21 45709402 45709402 single base substitution G A upstream_gene_variant MELA-AU 21 45709419 45709419 single base substitution G A exon_variant MELA-AU 21 45709419 45709419 single base substitution G A intron_variant MELA-AU 21 45709419 45709419 single base substitution G A upstream_gene_variant MELA-AU 21 45709656 45709656 single base substitution C T exon_variant MELA-AU 21 45709656 45709656 single base substitution C T stop_gained R257* 769C>T MELA-AU 21 45709656 45709656 single base substitution C T upstream_gene_variant MELA-AU 21 45709739 45709739 single base substitution G A intron_variant MELA-AU 21 45709739 45709739 single base substitution G A upstream_gene_variant MELA-AU 21 45709952 45709952 single base substitution G A splice_donor_variant MELA-AU 21 45709952 45709952 single base substitution G A upstream_gene_variant MELA-AU 21 45710041 45710041 single base substitution G A intron_variant MELA-AU 21 45710041 45710041 single base substitution G A upstream_gene_variant MELA-AU 21 45710527 45710527 single base substitution G A intron_variant MELA-AU 21 45710527 45710527 single base substitution G A upstream_gene_variant MELA-AU 21 45710619 45710619 single base substitution G A intron_variant MELA-AU 21 45710619 45710619 single base substitution G A upstream_gene_variant MELA-AU 21 45710689 45710689 single base substitution C T exon_variant MELA-AU 21 45710689 45710689 single base substitution C T intron_variant MELA-AU 21 45710689 45710689 single base substitution C T upstream_gene_variant MELA-AU 21 45711080 45711080 single base substitution C T exon_variant MELA-AU 21 45711080 45711080 single base substitution C T missense_variant R121W 361C>T MELA-AU 21 45711080 45711080 single base substitution C T missense_variant R328W 982C>T MELA-AU 21 45711088 45711088 single base substitution C T exon_variant MELA-AU 21 45711088 45711088 single base substitution C T synonymous_variant I123I 369C>T MELA-AU 21 45711088 45711088 single base substitution C T synonymous_variant I330I 990C>T MELA-AU 21 45711205 45711205 single base substitution G A intron_variant MELA-AU 21 45711581 45711581 single base substitution C T intron_variant MELA-AU 21 45711642 45711642 single base substitution G A intron_variant MELA-AU 21 45711696 45711696 single base substitution C A intron_variant MELA-AU 21 45712037 45712037 single base substitution C T intron_variant MELA-AU 21 45712297 45712297 single base substitution C A intron_variant MELA-AU 21 45712299 45712299 single base substitution C T intron_variant MELA-AU 21 45712320 45712320 single base substitution C T intron_variant MELA-AU 21 45712344 45712344 single base substitution C T intron_variant MELA-AU 21 45712507 45712507 single base substitution G A intron_variant MELA-AU 21 45712620 45712620 single base substitution C T intron_variant MELA-AU 21 45713027 45713027 single base substitution C T exon_variant MELA-AU 21 45713027 45713027 single base substitution C T missense_variant P182S 544C>T MELA-AU 21 45713027 45713027 single base substitution C T missense_variant P209L 626C>T MELA-AU 21 45713027 45713027 single base substitution C T missense_variant P416L 1247C>T MELA-AU 21 45713588 45713588 single base substitution G A intron_variant MELA-AU 21 45713589 45713589 single base substitution G A intron_variant MELA-AU 21 45713716 45713716 single base substitution G A exon_variant MELA-AU 21 45713716 45713716 single base substitution G A missense_variant R207Q 620G>A MELA-AU 21 45713716 45713716 single base substitution G A synonymous_variant T234T 702G>A MELA-AU 21 45713716 45713716 single base substitution G A synonymous_variant T441T 1323G>A MELA-AU 21 45714948 45714948 single base substitution G A intron_variant MELA-AU 21 45715636 45715636 single base substitution C T intron_variant MELA-AU 21 45716048 45716049 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 45716132 45716132 single base substitution C T intron_variant MELA-AU 21 45716230 45716230 single base substitution G T intron_variant MELA-AU 21 45716286 45716286 single base substitution G A 3_prime_UTR_variant MELA-AU 21 45716286 45716286 single base substitution G A exon_variant MELA-AU 21 45716286 45716286 single base substitution G A synonymous_variant E301E 903G>A MELA-AU 21 45716286 45716286 single base substitution G A synonymous_variant E508E 1524G>A MELA-AU 21 45716691 45716691 single base substitution G A intron_variant MELA-AU 21 45716873 45716873 single base substitution C T intron_variant MELA-AU 21 45716902 45716902 single base substitution G A intron_variant MELA-AU 21 45717385 45717385 single base substitution C T intron_variant MELA-AU 21 45717897 45717897 single base substitution C T 3_prime_UTR_variant MELA-AU 21 45717897 45717897 single base substitution C T downstream_gene_variant MELA-AU 21 45717897 45717897 single base substitution C T exon_variant MELA-AU 21 45718039 45718039 single base substitution C A 3_prime_UTR_variant MELA-AU 21 45718039 45718039 single base substitution C A downstream_gene_variant MELA-AU 21 45718039 45718039 single base substitution C A exon_variant MELA-AU 21 45718956 45718956 single base substitution C T downstream_gene_variant MELA-AU 21 45719442 45719443 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 21 45720490 45720490 single base substitution C T downstream_gene_variant MELA-AU 21 45721801 45721801 single base substitution C T downstream_gene_variant MELA-AU 21 45721884 45721884 single base substitution A G downstream_gene_variant MELA-AU 21 45722814 45722814 single base substitution T A downstream_gene_variant MELA-AU 21 45722848 45722848 single base substitution G A downstream_gene_variant MELA-AU 21 45723529 45723530 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant ORCA-IN 21 45701385 45701385 single base substitution G T upstream_gene_variant ORCA-IN 21 45702104 45702104 single base substitution G A upstream_gene_variant ORCA-IN 21 45709880 45709880 single base substitution G A exon_variant ORCA-IN 21 45709880 45709880 single base substitution G A missense_variant E270K 808G>A ORCA-IN 21 45709880 45709880 single base substitution G A upstream_gene_variant ORCA-IN 21 45710497 45710497 single base substitution G A intron_variant ORCA-IN 21 45710497 45710497 single base substitution G A upstream_gene_variant ORCA-IN 21 45716797 45716797 single base substitution C T intron_variant ORCA-IN 21 45717463 45717463 single base substitution C T intron_variant ORCA-IN 21 45721806 45721806 single base substitution G T downstream_gene_variant OV-AU 21 45700963 45700963 single base substitution G T upstream_gene_variant OV-AU 21 45701874 45701874 single base substitution G A upstream_gene_variant OV-AU 21 45702529 45702529 single base substitution G A upstream_gene_variant OV-AU 21 45707353 45707353 single base substitution C A exon_variant OV-AU 21 45707353 45707353 single base substitution C A intron_variant OV-AU 21 45707353 45707353 single base substitution C A upstream_gene_variant OV-AU 21 45709175 45709175 single base substitution C G exon_variant OV-AU 21 45709175 45709175 single base substitution C G intron_variant OV-AU 21 45709175 45709175 single base substitution C G upstream_gene_variant OV-AU 21 45715953 45715953 single base substitution G T intron_variant OV-AU 21 45718310 45718310 single base substitution C G downstream_gene_variant OV-AU 21 45718310 45718310 single base substitution C G exon_variant OV-AU 21 45722274 45722274 single base substitution G A downstream_gene_variant OV-AU 21 45722732 45722732 single base substitution C T downstream_gene_variant PACA-AU 21 45702657 45702657 single base substitution G T upstream_gene_variant PACA-AU 21 45704381 45704381 single base substitution G A upstream_gene_variant PACA-AU 21 45712898 45712898 single base substitution C T exon_variant PACA-AU 21 45712898 45712898 single base substitution C T missense_variant A166V 497C>T PACA-AU 21 45712898 45712898 single base substitution C T missense_variant A373V 1118C>T PACA-AU 21 45716452 45716452 single base substitution G A intron_variant PACA-AU 21 45716783 45716783 single base substitution T C intron_variant PACA-AU 21 45722841 45722841 single base substitution C T downstream_gene_variant PACA-CA 21 45702748 45702748 single base substitution G A upstream_gene_variant PACA-CA 21 45704372 45704372 single base substitution G A upstream_gene_variant PACA-CA 21 45708212 45708212 single base substitution G T intron_variant PACA-CA 21 45708212 45708212 single base substitution G T upstream_gene_variant PACA-CA 21 45709732 45709732 single base substitution G A intron_variant PACA-CA 21 45709732 45709732 single base substitution G A upstream_gene_variant PACA-CA 21 45710120 45710120 single base substitution T C intron_variant PACA-CA 21 45710120 45710120 single base substitution T C upstream_gene_variant PACA-CA 21 45711775 45711775 single base substitution G A intron_variant PACA-CA 21 45712554 45712554 single base substitution C T intron_variant PACA-CA 21 45714598 45714598 single base substitution T C intron_variant PACA-CA 21 45715874 45715874 single base substitution C T intron_variant PACA-CA 21 45717380 45717380 single base substitution C A intron_variant PACA-CA 21 45717929 45717929 single base substitution C T 3_prime_UTR_variant PACA-CA 21 45717929 45717929 single base substitution C T downstream_gene_variant PACA-CA 21 45717929 45717929 single base substitution C T exon_variant PACA-CA 21 45723107 45723107 single base substitution C A downstream_gene_variant PAEN-AU 21 45703775 45703775 single base substitution A G upstream_gene_variant PBCA-DE 21 45703415 45703415 deletion of <=200bp G - upstream_gene_variant PBCA-DE 21 45705950 45705950 single base substitution G A exon_variant PBCA-DE 21 45705950 45705950 single base substitution G A missense_variant A21T 61G>A PBCA-DE 21 45705950 45705950 single base substitution G A upstream_gene_variant PBCA-DE 21 45719081 45719082 deletion of <=200bp AC - downstream_gene_variant PRAD-CA 21 45703727 45703727 single base substitution G A upstream_gene_variant PRAD-CA 21 45703824 45703824 single base substitution C T upstream_gene_variant PRAD-CA 21 45710002 45710002 single base substitution G T intron_variant PRAD-CA 21 45710002 45710002 single base substitution G T upstream_gene_variant PRAD-CA 21 45711077 45711077 single base substitution C A exon_variant PRAD-CA 21 45711077 45711077 single base substitution C A missense_variant L120I 358C>A PRAD-CA 21 45711077 45711077 single base substitution C A missense_variant L327I 979C>A PRAD-UK 21 45717293 45717293 single base substitution G C intron_variant READ-US 21 45705994 45705994 single base substitution C T exon_variant READ-US 21 45705994 45705994 single base substitution C T synonymous_variant H35H 105C>T READ-US 21 45705994 45705994 single base substitution C T upstream_gene_variant RECA-EU 21 45717408 45717408 single base substitution C T intron_variant SKCA-BR 21 45701617 45701617 single base substitution A T upstream_gene_variant SKCA-BR 21 45701730 45701730 single base substitution G A upstream_gene_variant SKCA-BR 21 45702156 45702156 single base substitution G C upstream_gene_variant SKCA-BR 21 45703402 45703402 single base substitution G A upstream_gene_variant SKCA-BR 21 45705860 45705860 single base substitution G A 5_prime_UTR_variant SKCA-BR 21 45705860 45705860 single base substitution G A exon_variant SKCA-BR 21 45705860 45705860 single base substitution G A upstream_gene_variant SKCA-BR 21 45706830 45706830 single base substitution T C intron_variant SKCA-BR 21 45706830 45706830 single base substitution T C upstream_gene_variant SKCA-BR 21 45709995 45709995 single base substitution C T intron_variant SKCA-BR 21 45709995 45709995 single base substitution C T upstream_gene_variant SKCA-BR 21 45710552 45710552 single base substitution G A intron_variant SKCA-BR 21 45710552 45710552 single base substitution G A upstream_gene_variant SKCA-BR 21 45710752 45710752 single base substitution C T exon_variant SKCA-BR 21 45710752 45710752 single base substitution C T intron_variant SKCA-BR 21 45710752 45710752 single base substitution C T synonymous_variant F21F 63C>T SKCA-BR 21 45710799 45710799 single base substitution G A exon_variant SKCA-BR 21 45710799 45710799 single base substitution G A intron_variant SKCA-BR 21 45710799 45710799 single base substitution G A missense_variant G37E 110G>A SKCA-BR 21 45712758 45712758 single base substitution T G intron_variant SKCA-BR 21 45713234 45713234 single base substitution G A intron_variant SKCA-BR 21 45713770 45713770 single base substitution C T exon_variant SKCA-BR 21 45713770 45713770 single base substitution C T missense_variant S225F 674C>T SKCA-BR 21 45713770 45713770 single base substitution C T synonymous_variant F252F 756C>T SKCA-BR 21 45713770 45713770 single base substitution C T synonymous_variant F459F 1377C>T SKCA-BR 21 45714603 45714603 single base substitution C T intron_variant SKCA-BR 21 45714604 45714604 single base substitution C T intron_variant SKCA-BR 21 45716797 45716797 single base substitution C T intron_variant SKCA-BR 21 45717502 45717502 single base substitution C G intron_variant SKCA-BR 21 45718697 45718697 single base substitution G A downstream_gene_variant SKCA-BR 21 45720215 45720215 single base substitution T C downstream_gene_variant SKCA-BR 21 45720571 45720571 single base substitution T G downstream_gene_variant SKCA-BR 21 45720609 45720626 deletion of <=200bp GGCTGCCCGGGGCATTGA - downstream_gene_variant SKCA-BR 21 45720955 45720955 single base substitution G A downstream_gene_variant SKCA-BR 21 45722117 45722117 single base substitution C T downstream_gene_variant SKCM-US 21 45706459 45706459 single base substitution A T exon_variant SKCM-US 21 45706459 45706459 single base substitution A T missense_variant E51V 152A>T SKCM-US 21 45706459 45706459 single base substitution A T upstream_gene_variant SKCM-US 21 45706614 45706614 single base substitution G A missense_variant D103N 307G>A SKCM-US 21 45706614 45706614 single base substitution G A splice_region_variant SKCM-US 21 45706614 45706614 single base substitution G A upstream_gene_variant SKCM-US 21 45706897 45706897 single base substitution C T exon_variant SKCM-US 21 45706897 45706897 single base substitution C T missense_variant P115L 344C>T SKCM-US 21 45706897 45706897 single base substitution C T upstream_gene_variant SKCM-US 21 45706903 45706903 single base substitution C T exon_variant SKCM-US 21 45706903 45706903 single base substitution C T missense_variant A117V 350C>T SKCM-US 21 45706903 45706903 single base substitution C T upstream_gene_variant SKCM-US 21 45706946 45706946 single base substitution G A exon_variant SKCM-US 21 45706946 45706946 single base substitution G A synonymous_variant K131K 393G>A SKCM-US 21 45706946 45706946 single base substitution G A upstream_gene_variant SKCM-US 21 45706962 45706962 single base substitution G A exon_variant SKCM-US 21 45706962 45706962 single base substitution G A missense_variant E137K 409G>A SKCM-US 21 45706962 45706962 single base substitution G A upstream_gene_variant SKCM-US 21 45708297 45708297 single base substitution G A exon_variant SKCM-US 21 45708297 45708297 single base substitution G A missense_variant R203Q 608G>A SKCM-US 21 45708297 45708297 single base substitution G A upstream_gene_variant SKCM-US 21 45708302 45708302 single base substitution G A exon_variant SKCM-US 21 45708302 45708302 single base substitution G A missense_variant A205T 613G>A SKCM-US 21 45708302 45708302 single base substitution G A upstream_gene_variant SKCM-US 21 45709622 45709622 single base substitution G A exon_variant SKCM-US 21 45709622 45709622 single base substitution G A synonymous_variant K245K 735G>A SKCM-US 21 45709622 45709622 single base substitution G A upstream_gene_variant SKCM-US 21 45709910 45709910 single base substitution C T exon_variant SKCM-US 21 45709910 45709910 single base substitution C T missense_variant P280S 838C>T SKCM-US 21 45709910 45709910 single base substitution C T upstream_gene_variant SKCM-US 21 45709924 45709924 single base substitution C T exon_variant SKCM-US 21 45709924 45709924 single base substitution C T synonymous_variant A284A 852C>T SKCM-US 21 45709924 45709924 single base substitution C T upstream_gene_variant SKCM-US 21 45711070 45711070 single base substitution C T exon_variant SKCM-US 21 45711070 45711070 single base substitution C T synonymous_variant S117S 351C>T SKCM-US 21 45711070 45711070 single base substitution C T synonymous_variant S324S 972C>T SKCM-US 21 45711083 45711083 single base substitution G A exon_variant SKCM-US 21 45711083 45711083 single base substitution G A missense_variant E122K 364G>A SKCM-US 21 45711083 45711083 single base substitution G A missense_variant E329K 985G>A SKCM-US 21 45711088 45711088 single base substitution C T exon_variant SKCM-US 21 45711088 45711088 single base substitution C T synonymous_variant I123I 369C>T SKCM-US 21 45711088 45711088 single base substitution C T synonymous_variant I330I 990C>T SKCM-US 21 45712900 45712900 single base substitution G A exon_variant SKCM-US 21 45712900 45712900 single base substitution G A missense_variant G167R 499G>A SKCM-US 21 45712900 45712900 single base substitution G A missense_variant G374R 1120G>A SKCM-US 21 45716284 45716284 single base substitution G A 3_prime_UTR_variant SKCM-US 21 45716284 45716284 single base substitution G A exon_variant SKCM-US 21 45716284 45716284 single base substitution G A missense_variant E301K 901G>A SKCM-US 21 45716284 45716284 single base substitution G A missense_variant E508K 1522G>A STAD-US 21 45706903 45706903 single base substitution C T exon_variant STAD-US 21 45706903 45706903 single base substitution C T missense_variant A117V 350C>T STAD-US 21 45706903 45706903 single base substitution C T upstream_gene_variant STAD-US 21 45708227 45708227 single base substitution G T splice_acceptor_variant STAD-US 21 45708227 45708227 single base substitution G T upstream_gene_variant STAD-US 21 45711065 45711065 single base substitution C A exon_variant STAD-US 21 45711065 45711065 single base substitution C A missense_variant L116M 346C>A STAD-US 21 45711065 45711065 single base substitution C A missense_variant L323M 967C>A STAD-US 21 45713694 45713694 single base substitution G A exon_variant STAD-US 21 45713694 45713694 single base substitution G A missense_variant A200T 598G>A STAD-US 21 45713694 45713694 single base substitution G A missense_variant C227Y 680G>A STAD-US 21 45713694 45713694 single base substitution G A missense_variant C434Y 1301G>A STAD-US 21 45713741 45713741 single base substitution G A exon_variant STAD-US 21 45713741 45713741 single base substitution G A missense_variant A243T 727G>A STAD-US 21 45713741 45713741 single base substitution G A missense_variant A450T 1348G>A STAD-US 21 45713741 45713741 single base substitution G A synonymous_variant A215A 645G>A STAD-US 21 45713760 45713760 single base substitution G A exon_variant STAD-US 21 45713760 45713760 single base substitution G A missense_variant A222T 664G>A STAD-US 21 45713760 45713760 single base substitution G A missense_variant R249H 746G>A STAD-US 21 45713760 45713760 single base substitution G A missense_variant R456H 1367G>A UCEC-US 21 45706514 45706514 single base substitution G T exon_variant UCEC-US 21 45706514 45706514 single base substitution G T missense_variant Q69H 207G>T UCEC-US 21 45706514 45706514 single base substitution G T upstream_gene_variant UCEC-US 21 45706579 45706579 single base substitution G A exon_variant UCEC-US 21 45706579 45706579 single base substitution G A missense_variant G91D 272G>A UCEC-US 21 45706579 45706579 single base substitution G A upstream_gene_variant UCEC-US 21 45707444 45707444 single base substitution G A exon_variant UCEC-US 21 45707444 45707444 single base substitution G A missense_variant A170T 508G>A UCEC-US 21 45707444 45707444 single base substitution G A upstream_gene_variant UCEC-US 21 45708242 45708242 single base substitution T C exon_variant UCEC-US 21 45708242 45708242 single base substitution T C missense_variant S185P 553T>C UCEC-US 21 45708242 45708242 single base substitution T C upstream_gene_variant UCEC-US 21 45708261 45708261 single base substitution C T exon_variant UCEC-US 21 45708261 45708261 single base substitution C T missense_variant A191V 572C>T UCEC-US 21 45708261 45708261 single base substitution C T upstream_gene_variant UCEC-US 21 45709596 45709596 single base substitution G A exon_variant UCEC-US 21 45709596 45709596 single base substitution G A missense_variant E237K 709G>A UCEC-US 21 45709596 45709596 single base substitution G A upstream_gene_variant UCEC-US 21 45710847 45710847 single base substitution G A exon_variant UCEC-US 21 45710847 45710847 single base substitution G A intron_variant UCEC-US 21 45710847 45710847 single base substitution G A missense_variant G53E 158G>A UCEC-US 21 45712895 45712895 single base substitution C T exon_variant UCEC-US 21 45712895 45712895 single base substitution C T missense_variant S165L 494C>T UCEC-US 21 45712895 45712895 single base substitution C T missense_variant S372L 1115C>T UCEC-US 21 45713792 45713792 single base substitution G A missense_variant G260R 778G>A UCEC-US 21 45713792 45713792 single base substitution G A missense_variant G467R 1399G>A UCEC-US 21 45713792 45713792 single base substitution G A splice_region_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EB-A44O-01 COSM3551331 c.350C>T p.A117V Substitution - Missense 21:44287020-44287020 + Gp5D COSM2820655 c.1466delC p.S491fs*30 Deletion - Frameshift 21:44294466-44294466 + 2492720 COSM5723194 c.1038G>A p.Q346Q Substitution - coding silent 21:44292344-44292344 + TCGA-FP-A4BE-01 COSM4101920 c.539-1G>T p.? Unknown 21:44288344-44288344 + HCC140T COSM1616125 c.1633T>A p.S545T Substitution - Missense 21:44297722-44297722 + 2492701 COSM5599045 c.623G>A p.G208E Substitution - Missense 21:44288429-44288429 + TCGA-FW-A3R5-06 COSM3551341 c.1120G>A p.G374R Substitution - Missense 21:44293017-44293017 + PTC-28C COSM329123 c.1578T>C p.D526D Substitution - coding silent 21:44297667-44297667 + B111-Tumor COSM1751676 c.1118C>T p.A373V Substitution - Missense 21:44293015-44293015 + SC_9083 COSM5569242 c.452C>A p.T151N Substitution - Missense 21:44287122-44287122 + LUAD-NYU627 COSM375441 c.983G>T p.R328L Substitution - Missense 21:44291198-44291198 + YUNEKI COSM5393004 c.1554C>T p.S518S Substitution - coding silent 21:44296433-44296433 + Au3 COSM5600996 c.1281C>T p.N427N Substitution - coding silent 21:44293791-44293791 + BD58T COSM5511332 c.977C>T p.P326L Substitution - Missense 21:44291192-44291192 + CHEWS029 COSM4582114 c.328C>T p.R110W Substitution - Missense 21:44286998-44286998 + 392 COSM4428241 c.1214C>T p.P405L Substitution - Missense 21:44293111-44293111 + CHC322T COSM3758929 c.681C>T p.G227G Substitution - coding silent 21:44289685-44289685 + TCGA-FW-A3R5-06 COSM3912236 c.838C>T p.P280S Substitution - Missense 21:44290027-44290027 + TCGA-EI-6507-01 COSM1566043 c.105C>T p.H35H Substitution - coding silent 21:44286111-44286111 + pfg127T COSM4754215 c.166C>A p.P56T Substitution - Missense 21:44286590-44286590 + TCGA-FW-A3R5-06 COSM3551337 c.972C>T p.S324S Substitution - coding silent 21:44291187-44291187 + PTC-7C COSM4134979 c.758A>C p.K253T Substitution - Missense 21:44289762-44289762 + B111 COSM1751678 c.1147G>A p.E383K Substitution - Missense 21:44293044-44293044 + HCC4 COSM1616123 c.1194G>A p.P398P Substitution - coding silent 21:44293091-44293091 + CSCC-40-T COSM4453713 c.337A>G p.R113G Substitution - Missense 21:44287007-44287007 + Pat_66_A COSM5858733 c.779G>A p.G260E Substitution - Missense 21:44289783-44289783 + CSCC-40-T COSM4543227 c.333G>A p.K111K Substitution - coding silent 21:44287003-44287003 + HCC063T COSM5812617 c.859A>T p.S287C Substitution - Missense 21:44290048-44290048 + CSCC-10-T COSM4485063 c.288C>T p.I96I Substitution - coding silent 21:44286712-44286712 + TCGA-FP-A4BE-01 COSM4101927 c.1367G>A p.R456H Substitution - Missense 21:44293877-44293877 + TCGA-BS-A0UJ-01 COSM1031242 c.572C>T p.A191V Substitution - Missense 21:44288378-44288378 + TCGA-FS-A1YX-06 COSM3551336 c.852C>T p.A284A Substitution - coding silent 21:44290041-44290041 + TCGA-AP-A0LM-01 COSM1031240 c.508G>A p.A170T Substitution - Missense 21:44287561-44287561 + T1743 COSM4660682 c.1330C>T p.L444L Substitution - coding silent 21:44293840-44293840 + 2492702 COSM5599045 c.623G>A p.G208E Substitution - Missense 21:44288429-44288429 + HCT-15 COSM1682027 c.230T>A p.F77Y Substitution - Missense 21:44286654-44286654 + TCGA-AM-5821-01 COSM3758929 c.681C>T p.G227G Substitution - coding silent 21:44289685-44289685 + YUDIVI COSM2820609 c.726G>A p.G242G Substitution - coding silent 21:44289730-44289730 + HCC4T COSM1616123 c.1194G>A p.P398P Substitution - coding silent 21:44293091-44293091 + SW48 COSM2820607 c.680G>A p.G227D Substitution - Missense 21:44289684-44289684 + DLD1 COSM1682027 c.230T>A p.F77Y Substitution - Missense 21:44286654-44286654 + CSCC-19-T COSM4564102 c.307_307+1GG>AA p.? Unknown 21:44286731-44286732 + TCGA-FW-A3R5-06 COSM3912234 c.307G>A p.D103N Substitution - Missense 21:44286731-44286731 + TCGA-D3-A51G-06 COSM3551333 c.409G>A p.E137K Substitution - Missense 21:44287079-44287079 + HCT15 COSM1682028 c.1546C>A p.L516M Substitution - Missense 21:44296425-44296425 + HCT-15 COSM1682028 c.1546C>A p.L516M Substitution - Missense 21:44296425-44296425 + CSCC-41-T COSM4555651 c.663G>A p.K221K Substitution - coding silent 21:44289667-44289667 + Au2 COSM5599045 c.623G>A p.G208E Substitution - Missense 21:44288429-44288429 + OSCC-GB_00670111 COSM4883916 c.808G>A p.E270K Substitution - Missense 21:44289997-44289997 + sysucc-1370T COSM5471305 c.1503+9C>T p.? Unknown 21:44294512-44294512 + T8 COSM3758929 c.681C>T p.G227G Substitution - coding silent 21:44289685-44289685 + TCGA-D3-A3CE-06 COSM3551332 c.393G>A p.K131K Substitution - coding silent 21:44287063-44287063 + CSCC-44-T COSM350272 c.608G>A p.R203Q Substitution - Missense 21:44288414-44288414 + ESCC_87 COSM5636717 c.612G>C p.G204G Substitution - coding silent 21:44288418-44288418 + C84 COSM4620116 c.278T>C p.L93P Substitution - Missense 21:44286702-44286702 + CPCG0099-F1 COSM4880787 c.979C>A p.L327I Substitution - Missense 21:44291194-44291194 + TCGA-FW-A3R5-06 COSM3912235 c.344C>T p.P115L Substitution - Missense 21:44287014-44287014 + T3049 COSM4660684 c.1383C>T p.A461A Substitution - coding silent 21:44293893-44293893 + 61 COSM1031240 c.508G>A p.A170T Substitution - Missense 21:44287561-44287561 + Pat_41_B COSM5858734 c.1553C>T p.S518F Substitution - Missense 21:44296432-44296432 + S00943 COSM309012 c.657C>A p.G219G Substitution - coding silent 21:44289661-44289661 + T3444 COSM4660680 c.1078delC p.P360fs*18 Deletion - Frameshift 21:44292384-44292384 + TCGA-66-2783-01 COSM725895 c.1278+1G>T p.? Unknown 21:44293176-44293176 + T3024 COSM4660677 c.424G>A p.A142T Substitution - Missense 21:44287094-44287094 + TCGA-B7-5818-01 COSM4101923 c.1301G>A p.C434Y Substitution - Missense 21:44293811-44293811 + TCGA-AO-A128-01 COSM3842010 c.1613G>A p.R538H Substitution - Missense 21:44297702-44297702 + TCGA-CG-5723-01 COSM4101921 c.967C>A p.L323M Substitution - Missense 21:44291182-44291182 + LUAD-YINHD COSM350272 c.608G>A p.R203Q Substitution - Missense 21:44288414-44288414 + LP6005500-DNA_F02 COSM5036989 c.1235C>T p.S412L Substitution - Missense 21:44293132-44293132 + T3724 COSM4660678 c.937G>A p.G313S Substitution - Missense 21:44291152-44291152 + T3090 COSM2820599 c.371C>T p.P124L Substitution - Missense 21:44287041-44287041 + PTC-54C COSM444569 c.1197T>C p.A399A Substitution - coding silent 21:44293094-44293094 + C086 COSM1031243 c.709G>A p.E237K Substitution - Missense 21:44289713-44289713 + TCGA-EE-A29R-06 COSM3551343 c.1522G>A p.E508K Substitution - Missense 21:44296401-44296401 + TCGA-C5-A1ML-01 COSM4837620 c.1455G>T p.E485D Substitution - Missense 21:44294455-44294455 + RMS112_ COSM4987570 c.1370G>A p.C457Y Substitution - Missense 21:44293880-44293880 + 90203 COSM329123 c.1578T>C p.D526D Substitution - coding silent 21:44297667-44297667 + ESCC_BICR_069T COSM5444742 c.548C>A p.T183N Substitution - Missense 21:44288354-44288354 + TCGA-AM-5821-01 COSM3693810 c.1065C>T p.P355P Substitution - coding silent 21:44292371-44292371 + Gp2D COSM2820655 c.1466delC p.S491fs*30 Deletion - Frameshift 21:44294466-44294466 + CSCC-31-T COSM4458777 c.1099C>T p.P367S Substitution - Missense 21:44292996-44292996 + HCA7 COSM2820659 c.1563C>T p.S521S Substitution - coding silent 21:44296442-44296442 + HCT15 COSM1682027 c.230T>A p.F77Y Substitution - Missense 21:44286654-44286654 + LUAD-YINHD COSM350273 c.790G>T p.A264S Substitution - Missense 21:44289794-44289794 + TCGA-D3-A3C1-06 COSM3551335 c.735G>A p.K245K Substitution - coding silent 21:44289739-44289739 + TCGA-HU-A4GQ-01 COSM4101925 c.1348G>A p.A450T Substitution - Missense 21:44293858-44293858 + TCGA-DD-A11A-01 COSM4940513 c.1066C>T p.R356W Substitution - Missense 21:44292372-44292372 + 12T COSM109614 c.1105G>A p.G369R Substitution - Missense 21:44293002-44293002 + S02299 COSM5690585 c.521G>C p.R174P Substitution - Missense 21:44287574-44287574 + TCGA-BR-8360-01 COSM3551331 c.350C>T p.A117V Substitution - Missense 21:44287020-44287020 + TCGA-D1-A103-01 COSM1031245 c.1399G>A p.G467R Substitution - Missense 21:44293909-44293909 + 2492723 COSM5723194 c.1038G>A p.Q346Q Substitution - coding silent 21:44292344-44292344 + ATL058 COSM5707568 c.47C>T p.T16M Substitution - Missense 21:44286053-44286053 + TCGA-AA-3663-01 COSM444569 c.1197T>C p.A399A Substitution - coding silent 21:44293094-44293094 + CSCC-20-T COSM4469929 c.1629C>T p.F543F Substitution - coding silent 21:44297718-44297718 + HCC140 COSM1616125 c.1633T>A p.S545T Substitution - Missense 21:44297722-44297722 + 8066491 COSM1751676 c.1118C>T p.A373V Substitution - Missense 21:44293015-44293015 + TCGA-AP-A0LM-01 COSM1031241 c.553T>C p.S185P Substitution - Missense 21:44288359-44288359 + sysucc-863T COSM5461498 c.1095+6G>A p.? Unknown 21:44292407-44292407 + TCGA-AZ-4615-01 COSM444569 c.1197T>C p.A399A Substitution - coding silent 21:44293094-44293094 + TCGA-12-5299-01 COSM3405441 c.352G>A p.V118I Substitution - Missense 21:44287022-44287022 + TCGA-06-2559 COSM2152687 c.416_418delGAG p.R139_A140>P Complex - deletion inframe 21:44287086-44287088 + TCGA-FW-A3R5-06 COSM3912237 c.990C>T p.I330I Substitution - coding silent 21:44291205-44291205 + ESCC_32 COSM3912236 c.838C>T p.P280S Substitution - Missense 21:44290027-44290027 + HCC60 COSM3708081 c.538+6C>T p.? Unknown 21:44287597-44287597 + CLL066 COSM1291188 c.1082C>A p.P361H Substitution - Missense 21:44292388-44292388 + TCGA-DD-A3A9-01 COSM1031243 c.709G>A p.E237K Substitution - Missense 21:44289713-44289713 + TCGA-BF-A1PV-01 COSM3551341 c.1120G>A p.G374R Substitution - Missense 21:44293017-44293017 + SNUH_G16_S1 COSM4002050 c.588C>T p.S196S Substitution - coding silent 21:44288394-44288394 + TCGA-EK-A2R8-01 COSM4822576 c.948G>T p.R316R Substitution - coding silent 21:44291163-44291163 + TCGA-D1-A17Q-01 COSM1031244 c.1115C>T p.S372L Substitution - Missense 21:44293012-44293012 + CSCC-7-T COSM3551337 c.972C>T p.S324S Substitution - coding silent 21:44291187-44291187 + CH-50-T2 COSM4101921 c.967C>A p.L323M Substitution - Missense 21:44291182-44291182 + TCGA-60-2712-01 COSM725897 c.325C>A p.P109T Substitution - Missense 21:44286995-44286995 + TCGA-GN-A26C-01 COSM3551330 c.152A>T p.E51V Substitution - Missense 21:44286576-44286576 + TCGA-BP-4763-01 COSM329123 c.1578T>C p.D526D Substitution - coding silent 21:44297667-44297667 + B111 COSM1751676 c.1118C>T p.A373V Substitution - Missense 21:44293015-44293015 + PTC-53C COSM4134978 c.99T>C p.A33A Substitution - coding silent 21:44286105-44286105 + 522_T COSM3964002 c.874C>A p.H292N Substitution - Missense 21:44290063-44290063 + TCGA-AP-A059-01 COSM1031238 c.207G>T p.Q69H Substitution - Missense 21:44286631-44286631 + NCI-H835 COSM2820661 c.1579G>A p.G527S Substitution - Missense 21:44297668-44297668 + Au1 COSM3912236 c.838C>T p.P280S Substitution - Missense 21:44290027-44290027 + B111-Tumor COSM1751678 c.1147G>A p.E383K Substitution - Missense 21:44293044-44293044 + CSCC-41-T COSM4508870 c.78C>A p.F26L Substitution - Missense 21:44286084-44286084 + GHE0624 COSM5714411 c.1369T>C p.C457R Substitution - Missense 21:44293879-44293879 + TCGA-D1-A15X-01 COSM1031239 c.272G>A p.G91D Substitution - Missense 21:44286696-44286696 + SC_9029 COSM5558484 c.366G>C p.L122F Substitution - Missense 21:44287036-44287036 + 2492703 COSM5599045 c.623G>A p.G208E Substitution - Missense 21:44288429-44288429 + TCGA-EK-A2RK-01 COSM4829132 c.946C>T p.R316W Substitution - Missense 21:44291161-44291161 + MOLT-4 COSM1031242 c.572C>T p.A191V Substitution - Missense 21:44288378-44288378 + TCGA-EE-A2MT-06 COSM3551339 c.985G>A p.E329K Substitution - Missense 21:44291200-44291200 + TCGA-BP-5190-01 COSM478639 c.899C>T p.A300V Substitution - Missense 21:44291114-44291114 + TCGA-FW-A3R5-06 COSM350272 c.608G>A p.R203Q Substitution - Missense 21:44288414-44288414 + HX13T COSM1616123 c.1194G>A p.P398P Substitution - coding silent 21:44293091-44293091 + LUAD-F00368 COSM341239 c.138G>T p.T46T Substitution - coding silent 21:44286562-44286562 + ESCC_BICR_045T COSM5441684 c.511G>C p.E171Q Substitution - Missense 21:44287564-44287564 + SNUH_G26_S1 COSM3681279 c.681C>A p.G227G Substitution - coding silent 21:44289685-44289685 + 2492722 COSM5723194 c.1038G>A p.Q346Q Substitution - coding silent 21:44292344-44292344 + sysucc-761T COSM5461498 c.1095+6G>A p.? Unknown 21:44292407-44292407 + TCGA-DA-A1HV-06 COSM3551337 c.972C>T p.S324S Substitution - coding silent 21:44291187-44291187 + PTC-54C COSM329123 c.1578T>C p.D526D Substitution - coding silent 21:44297667-44297667 + TCGA-EE-A2A5-06 COSM3551334 c.613G>A p.A205T Substitution - Missense 21:44288419-44288419 + TCGA-JW-A5VL-01 COSM1031243 c.709G>A p.E237K Substitution - Missense 21:44289713-44289713 + cSCCP2 COSM137739 c.151G>A p.E51K Substitution - Missense 21:44286575-44286575 + RMS105_ COSM4986035 c.1528G>A p.A510T Substitution - Missense 21:44296407-44296407 + DN15001 COSM5962168 c.790G>A p.A264T Substitution - Missense 21:44289794-44289794 + HCT116 COSM2820631 c.947G>A p.R316Q Substitution - Missense 21:44291162-44291162 + SA084 COSM213501 c.1531C>G p.L511V Substitution - Missense 21:44296410-44296410 + HCC60T COSM3708081 c.538+6C>T p.? Unknown 21:44287597-44287597 + TCGA-39-5024-01 COSM725896 c.807T>C p.G269G Substitution - coding silent 21:44289996-44289996 + TCGA-36-2542-01 COSM1327377 c.1191G>T p.L397L Substitution - coding silent 21:44293088-44293088 + 2492721 COSM5723194 c.1038G>A p.Q346Q Substitution - coding silent 21:44292344-44292344 + 2492700 COSM5599045 c.623G>A p.G208E Substitution - Missense 21:44288429-44288429 + CHEWS027 COSM3842010 c.1613G>A p.R538H Substitution - Missense 21:44297702-44297702 + YUNEXUS COSM5393003 c.106G>A p.D36N Substitution - Missense 21:44286112-44286112 + YULETA COSM3551336 c.852C>T p.A284A Substitution - coding silent 21:44290041-44290041 + TCGA-BS-A0UV-01 COSM1031243 c.709G>A p.E237K Substitution - Missense 21:44289713-44289713 + HCC103T COSM5818372 c.778G>A p.G260R Substitution - Missense 21:44289782-44289782 + S00837 COSM5661260 c.538G>T p.G180W Substitution - Missense 21:44287591-44287591 + TCGA-BT-A0YX-01 COSM419672 c.442C>G p.P148A Substitution - Missense 21:44287112-44287112 + SW1222 COSM4654832 c.1171A>G p.T391A Substitution - Missense 21:44293068-44293068 + TCGA-AA-3994-01 COSM298045 c.294C>A p.D98E Substitution - Missense 21:44286718-44286718 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.129829 21q22.3 607358

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T Missense p.E51V c.152A>T 21 45706459 CM C A Missense p.D98E c.294C>A 21 45706601 COREAD C A Missense p.P109T c.325C>A 21 45706878 LUSC C A Missense p.P361H c.1082C>A 21 45712271 CLL C A Synonymous p.G219G c.657C>A 21 45709544 SCLC CC TT Missense p.P367S c.1098_1099delinsTT 21 45712878 CM C G Missense p.L511V c.1531C>G 21 45716293 BRCA C G Missense p.P148A c.442C>G 21 45706995 BLCA C G Synonymous p.A450A c.1350C>G 21 45713743 LUAD C T IntronicSNV . c.879+393C>T 21 45710344 HC C T Missense p.P542L c.1625C>T 21 45717597 CM C T Synonymous p.A202A c.606C>T 21 45708295 CM C T Synonymous p.A284A c.852C>T 21 45709924 CM C T Synonymous p.L444L c.1330C>T 21 45713723 CM C T Synonymous p.P266P c.798C>T 21 45709685 HNSC C T Synonymous p.S324S c.972C>T 21 45711070 CM G A IntronicSNV . c.880-214G>A 21 45710764 CM G A Missense p.A205T c.613G>A 21 45708302 CM G A Missense p.C434Y c.1301G>A 21 45713694 STAD G A Missense p.E329K c.985G>A 21 45711083 CM G A Missense p.E508K c.1522G>A 21 45716284 CM G A Missense p.E51K c.151G>A 21 45706458 CM G A Missense p.G112R c.334G>A 21 45706887 CM G A Missense p.G204E c.611G>A 21 45708300 CM G A Missense p.G374R c.1120G>A 21 45712900 CM G A Missense p.G435R c.1303G>A 21 45713696 LUAD G A Missense p.V118I c.352G>A 21 45706905 GBM G A Missense p.V484M c.1450G>A 21 45714333 LUAD G A Nonsense p.W78* c.234G>A 21 45706541 CM G A Synonymous p.G408G c.1224G>A 21 45713004 CM G A Synonymous p.K131K c.393G>A 21 45706946 CM G A Synonymous p.K245K c.735G>A 21 45709622 CM GCCTGTCCCCTCC - Frameshift p.L323Sfs*51 c.967_979delCTGTCCCCTCCGC 21 45711063 RCCC G C IntronicSNV . c.880-216G>C 21 45710762 STAD G T IntronicSNV . c.652+26G>T 21 45708367 HC G T SpliceDonorSNV . c.1278+1G>T 21 45713059 LUSC G T Synonymous p.L255L c.765G>T 21 45709652 LUAD T C IntronicSNV . c.880-270T>C 21 45710708 ESCA T C Synonymous p.G269G c.807T>C 21 45709879 LUSC