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 19 1250394 1250394 + Silent SNP C C T TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr19:1250394C>T c.99C>T c.(97-99)ctC>ctT p.L33L BLCA 19 1251879 1251879 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr19:1251879C>T c.363C>T c.(361-363)ctC>ctT p.L121L BLCA 19 1251888 1251888 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr19:1251888C>T c.372C>T c.(370-372)ctC>ctT p.L124L BLCA 19 1254316 1254317 + Frame_Shift_Ins INS - - GG TCGA-KQ-A41N-01A-11D-A339-08 TCGA-KQ-A41N-10D-01D-A339-08 g.chr19:1254316_1254317insGG c.535_536insGG c.(535-537)cggfs p.R179fs BLCA 19 1254936 1254936 + Silent SNP C C A TCGA-E7-A5KF-01A-11D-A289-08 TCGA-E7-A5KF-10A-01D-A289-08 g.chr19:1254936C>A c.732C>A c.(730-732)gcC>gcA p.A244A BLCA 19 1255046 1255046 + Nonsense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 g.chr19:1255046C>G c.842C>G c.(841-843)tCa>tGa p.S281* BLCA 19 1257172 1257172 + Silent SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 g.chr19:1257172C>T c.1308C>T c.(1306-1308)ggC>ggT p.G436G BLCA 19 1257191 1257191 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr19:1257191G>A c.1327G>A c.(1327-1329)Ggc>Agc p.G443S COAD 19 1250457 1250457 + Missense_Mutation SNP G G C TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr19:1250457G>C c.162G>C c.(160-162)gaG>gaC p.E54D COAD 19 1251609 1251609 + Missense_Mutation SNP C C A TCGA-AZ-4682-01B-01D-1408-10 TCGA-AZ-4682-10A-01D-1408-10 g.chr19:1251609C>A c.282C>A c.(280-282)agC>agA p.S94R COAD 19 1254980 1254980 + Frame_Shift_Del DEL C C - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr19:1254980delC c.776delC c.(775-777)gccfs p.A259fs COAD 19 1255006 1255006 + Missense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr19:1255006G>A c.802G>A c.(802-804)Gtc>Atc p.V268I COAD 19 1255556 1255556 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:1255556G>A c.992G>A c.(991-993)cGc>cAc p.R331H COAD 19 1257161 1257161 + Frame_Shift_Del DEL G G - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr19:1257161delG c.1297delG c.(1297-1299)gggfs p.G436fs COAD 19 1257203 1257203 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:1257203G>A c.1339G>A c.(1339-1341)Gac>Aac p.D447N COADREAD 19 1250457 1250457 + Missense_Mutation SNP G G C TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr19:1250457G>C c.162G>C c.(160-162)gaG>gaC p.E54D COADREAD 19 1251609 1251609 + Missense_Mutation SNP C C A TCGA-AZ-4682-01B-01D-1408-10 TCGA-AZ-4682-10A-01D-1408-10 g.chr19:1251609C>A c.282C>A c.(280-282)agC>agA p.S94R COADREAD 19 1254980 1254980 + Frame_Shift_Del DEL C C - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr19:1254980delC c.776delC c.(775-777)gccfs p.A259fs COADREAD 19 1255006 1255006 + Missense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr19:1255006G>A c.802G>A c.(802-804)Gtc>Atc p.V268I COADREAD 19 1255556 1255556 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:1255556G>A c.992G>A c.(991-993)cGc>cAc p.R331H COADREAD 19 1257161 1257161 + Frame_Shift_Del DEL G G - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr19:1257161delG c.1297delG c.(1297-1299)gggfs p.G436fs COADREAD 19 1257203 1257203 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:1257203G>A c.1339G>A c.(1339-1341)Gac>Aac p.D447N ESCA 19 1255011 1255011 + Silent SNP C C A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 g.chr19:1255011C>A c.807C>A c.(805-807)atC>atA p.I269I GBM 19 1250466 1250466 + Silent SNP C C G TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 g.chr19:1250466C>G c.171C>G c.(169-171)cgC>cgG p.R57R GBM 19 1257138 1257138 + Missense_Mutation SNP G G A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 g.chr19:1257138G>A c.1274G>A c.(1273-1275)gGc>gAc p.G425D GBM 19 1257154 1257154 + Missense_Mutation SNP T T G TCGA-76-6285-01A-11D-1696-08 TCGA-76-6285-10A-01D-1696-08 g.chr19:1257154T>G c.1290T>G c.(1288-1290)agT>agG p.S430R GBMLGG 19 1250466 1250466 + Silent SNP C C G TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 g.chr19:1250466C>G c.171C>G c.(169-171)cgC>cgG p.R57R GBMLGG 19 1255053 1255053 + Silent SNP C C T TCGA-HT-7677-01A-11D-2253-08 TCGA-HT-7677-10A-01D-2253-08 g.chr19:1255053C>T c.849C>T c.(847-849)acC>acT p.T283T GBMLGG 19 1257138 1257138 + Missense_Mutation SNP G G A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 g.chr19:1257138G>A c.1274G>A c.(1273-1275)gGc>gAc p.G425D GBMLGG 19 1257154 1257154 + Missense_Mutation SNP T T G TCGA-76-6285-01A-11D-1696-08 TCGA-76-6285-10A-01D-1696-08 g.chr19:1257154T>G c.1290T>G c.(1288-1290)agT>agG p.S430R HNSC 19 1254429 1254429 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr19:1254429C>T c.648C>T c.(646-648)atC>atT p.I216I HNSC 19 1254932 1254932 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr19:1254932G>A c.728G>A c.(727-729)aGt>aAt p.S243N HNSC 19 1255048 1255048 + Missense_Mutation SNP G G A TCGA-BA-A6DF-01A-11D-A30E-08 TCGA-BA-A6DF-10A-01D-A30H-08 g.chr19:1255048G>A c.844G>A c.(844-846)Ggg>Agg p.G282R HNSC 19 1255542 1255542 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 g.chr19:1255542G>A c.978G>A c.(976-978)tcG>tcA p.S326S HNSC 19 1257108 1257108 + Missense_Mutation SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 g.chr19:1257108C>T c.1244C>T c.(1243-1245)cCg>cTg p.P415L KIPAN 19 1251579 1251580 + Frame_Shift_Ins INS - - C TCGA-Y8-A895-01A-11D-A35Z-10 TCGA-Y8-A895-10A-01D-A35Z-10 g.chr19:1251579_1251580insC c.252_253insC c.(253-255)ctgfs p.L85fs KIPAN 19 1255541 1255541 + Missense_Mutation SNP C C T TCGA-IA-A83V-01A-11D-A34Z-10 TCGA-IA-A83V-11A-11D-A34Z-10 g.chr19:1255541C>T c.977C>T c.(976-978)tCg>tTg p.S326L KIPAN 19 1255611 1255611 + Silent SNP T T C TCGA-2Z-A9J2-01A-11D-A382-10 TCGA-2Z-A9J2-10A-01D-A385-10 g.chr19:1255611T>C c.1047T>C c.(1045-1047)acT>acC p.T349T KIPAN 19 1257046 1257048 + In_Frame_Del DEL GCT GCT - TCGA-HE-7128-01A-11D-1961-08 TCGA-HE-7128-10A-01D-1962-08 g.chr19:1257046_1257048delGCT c.1182_1184delGCT c.(1180-1185)cggctg>cgg p.L395del KIPAN 19 1257108 1257108 + Missense_Mutation SNP C C T TCGA-A3-3385-01A-02D-1421-08 TCGA-A3-3385-11A-01D-1421-08 g.chr19:1257108C>T c.1244C>T c.(1243-1245)cCg>cTg p.P415L KIRC 19 1257108 1257108 + Missense_Mutation SNP C C T TCGA-A3-3385-01A-02D-1421-08 TCGA-A3-3385-11A-01D-1421-08 g.chr19:1257108C>T c.1244C>T c.(1243-1245)cCg>cTg p.P415L KIRP 19 1251579 1251580 + Frame_Shift_Ins INS - - C TCGA-Y8-A895-01A-11D-A35Z-10 TCGA-Y8-A895-10A-01D-A35Z-10 g.chr19:1251579_1251580insC c.252_253insC c.(253-255)ctgfs p.L85fs KIRP 19 1255541 1255541 + Missense_Mutation SNP C C T TCGA-IA-A83V-01A-11D-A34Z-10 TCGA-IA-A83V-11A-11D-A34Z-10 g.chr19:1255541C>T c.977C>T c.(976-978)tCg>tTg p.S326L KIRP 19 1255611 1255611 + Silent SNP T T C TCGA-2Z-A9J2-01A-11D-A382-10 TCGA-2Z-A9J2-10A-01D-A385-10 g.chr19:1255611T>C c.1047T>C c.(1045-1047)acT>acC p.T349T KIRP 19 1257046 1257048 + In_Frame_Del DEL GCT GCT - TCGA-HE-7128-01A-11D-1961-08 TCGA-HE-7128-10A-01D-1962-08 g.chr19:1257046_1257048delGCT c.1182_1184delGCT c.(1180-1185)cggctg>cgg p.L395del LGG 19 1255053 1255053 + Silent SNP C C T TCGA-HT-7677-01A-11D-2253-08 TCGA-HT-7677-10A-01D-2253-08 g.chr19:1255053C>T c.849C>T c.(847-849)acC>acT p.T283T LIHC 19 1255586 1255586 + Missense_Mutation SNP C C G TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr19:1255586C>G c.1022C>G c.(1021-1023)cCg>cGg p.P341R LIHC 19 1257098 1257098 + Missense_Mutation SNP G G A TCGA-DD-AAVQ-01A-11D-A40R-10 TCGA-DD-AAVQ-10A-01D-A40U-10 g.chr19:1257098G>A c.1234G>A c.(1234-1236)Gcg>Acg p.A412T LUAD 19 1254919 1254919 + Missense_Mutation SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 g.chr19:1254919A>T c.715A>T c.(715-717)Acg>Tcg p.T239S LUAD 19 1255036 1255036 + Missense_Mutation SNP G G T TCGA-55-6975-01A-11D-1945-08 TCGA-55-6975-11A-01D-1945-08 g.chr19:1255036G>T c.832G>T c.(832-834)Ggg>Tgg p.G278W LUAD 19 1255633 1255633 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 g.chr19:1255633G>T c.1069G>T c.(1069-1071)Gct>Tct p.A357S LUAD 19 1257182 1257182 + Missense_Mutation SNP G G C TCGA-86-8056-01A-11D-2238-08 TCGA-86-8056-10A-01D-2238-08 g.chr19:1257182G>C c.1318G>C c.(1318-1320)Gag>Cag p.E440Q LUSC 19 1251880 1251880 + Missense_Mutation SNP G G C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr19:1251880G>C c.364G>C c.(364-366)Gag>Cag p.E122Q LUSC 19 1255030 1255030 + Missense_Mutation SNP G G T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 g.chr19:1255030G>T c.826G>T c.(826-828)Gcc>Tcc p.A276S LUSC 19 1255491 1255491 + Silent SNP C C T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr19:1255491C>T c.927C>T c.(925-927)atC>atT p.I309I LUSC 19 1255693 1255693 + Splice_Site SNP G G T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 g.chr19:1255693G>T c.1129G>T c.(1129-1131)Ggg>Tgg p.G377W OV 19 1257190 1257190 + Silent SNP C C T TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 g.chr19:1257190C>T c.1326C>T c.(1324-1326)tcC>tcT p.S442S PCPG 19 1254406 1254407 + Frame_Shift_Ins INS - - C TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 g.chr19:1254406_1254407insC c.625_626insC c.(625-627)tccfs p.S209fs SKCM 19 1251902 1251902 + Splice_Site SNP T T C TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr19:1251902T>C c.e3+2 SKCM 19 1254187 1254187 + Missense_Mutation SNP C C T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr19:1254187C>T c.406C>T c.(406-408)Cgt>Tgt p.R136C SKCM 19 1254385 1254385 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr19:1254385C>T c.604C>T c.(604-606)Ccc>Tcc p.P202S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 19 1255046 1255046 single base substitution C G downstream_gene_variant BLCA-US 19 1255046 1255046 single base substitution C G stop_gained S281* 842C>G BLCA-US 19 1257191 1257191 single base substitution G A downstream_gene_variant BLCA-US 19 1257191 1257191 single base substitution G A missense_variant G443S 1327G>A BRCA-EU 19 1244345 1244345 insertion of <=200bp - CGGAGCTGGTGGGGACAGCTGA upstream_gene_variant BRCA-EU 19 1245952 1245952 single base substitution G C upstream_gene_variant BRCA-EU 19 1246089 1246089 single base substitution C G upstream_gene_variant BRCA-EU 19 1246239 1246239 single base substitution C G upstream_gene_variant BRCA-EU 19 1246579 1246579 single base substitution G T upstream_gene_variant BRCA-EU 19 1247379 1247379 single base substitution G A upstream_gene_variant BRCA-EU 19 1250218 1250218 single base substitution A G 5_prime_UTR_variant BRCA-EU 19 1250218 1250218 single base substitution A G upstream_gene_variant BRCA-EU 19 1250221 1250221 single base substitution C A 5_prime_UTR_variant BRCA-EU 19 1250221 1250221 single base substitution C A upstream_gene_variant BRCA-EU 19 1250425 1250425 single base substitution G C missense_variant D44H 130G>C BRCA-EU 19 1250425 1250425 single base substitution G C upstream_gene_variant BRCA-EU 19 1252426 1252426 single base substitution C G downstream_gene_variant BRCA-EU 19 1252426 1252426 single base substitution C G intron_variant BRCA-EU 19 1252426 1252426 single base substitution C G upstream_gene_variant BRCA-EU 19 1252921 1252921 single base substitution G T downstream_gene_variant BRCA-EU 19 1252921 1252921 single base substitution G T intron_variant BRCA-EU 19 1252921 1252921 single base substitution G T upstream_gene_variant BRCA-EU 19 1253076 1253076 single base substitution C T downstream_gene_variant BRCA-EU 19 1253076 1253076 single base substitution C T intron_variant BRCA-EU 19 1253076 1253076 single base substitution C T upstream_gene_variant BRCA-EU 19 1253496 1253496 single base substitution G A downstream_gene_variant BRCA-EU 19 1253496 1253496 single base substitution G A intron_variant BRCA-EU 19 1253496 1253496 single base substitution G A upstream_gene_variant BRCA-EU 19 1253685 1253685 single base substitution G C downstream_gene_variant BRCA-EU 19 1253685 1253685 single base substitution G C exon_variant BRCA-EU 19 1253685 1253685 single base substitution G C intron_variant BRCA-EU 19 1253738 1253738 single base substitution G C downstream_gene_variant BRCA-EU 19 1253738 1253738 single base substitution G C exon_variant BRCA-EU 19 1253738 1253738 single base substitution G C intron_variant BRCA-EU 19 1254234 1254234 single base substitution C T downstream_gene_variant BRCA-EU 19 1254234 1254234 single base substitution C T exon_variant BRCA-EU 19 1254234 1254234 single base substitution C T synonymous_variant F151F 453C>T BRCA-EU 19 1254234 1254234 single base substitution C T synonymous_variant F96F 288C>T BRCA-EU 19 1254685 1254685 single base substitution G A downstream_gene_variant BRCA-EU 19 1254685 1254685 single base substitution G A intron_variant BRCA-EU 19 1254758 1254758 single base substitution C G downstream_gene_variant BRCA-EU 19 1254758 1254758 single base substitution C G intron_variant BRCA-EU 19 1255473 1255473 single base substitution C G downstream_gene_variant BRCA-EU 19 1255473 1255473 single base substitution C G missense_variant I303M 909C>G BRCA-EU 19 1257867 1257867 single base substitution T C 3_prime_UTR_variant BRCA-EU 19 1257867 1257867 single base substitution T C downstream_gene_variant BRCA-EU 19 1258743 1258743 single base substitution A G 3_prime_UTR_variant BRCA-EU 19 1258743 1258743 single base substitution A G downstream_gene_variant BRCA-EU 19 1258768 1258772 deletion of <=200bp GTTTT - 3_prime_UTR_variant BRCA-EU 19 1258768 1258772 deletion of <=200bp GTTTT - downstream_gene_variant BRCA-EU 19 1258778 1258778 single base substitution G C 3_prime_UTR_variant BRCA-EU 19 1258778 1258778 single base substitution G C downstream_gene_variant BRCA-EU 19 1259147 1259147 single base substitution G A downstream_gene_variant BRCA-EU 19 1259206 1259206 single base substitution G A downstream_gene_variant BRCA-EU 19 1259670 1259670 single base substitution G T downstream_gene_variant BRCA-EU 19 1260269 1260269 single base substitution C G downstream_gene_variant BRCA-EU 19 1262920 1262920 single base substitution C T downstream_gene_variant BRCA-EU 19 1262991 1262991 single base substitution G A downstream_gene_variant BRCA-EU 19 1263506 1263506 single base substitution G C downstream_gene_variant BRCA-FR 19 1250221 1250221 single base substitution C A 5_prime_UTR_variant BRCA-FR 19 1250221 1250221 single base substitution C A upstream_gene_variant BRCA-FR 19 1259147 1259147 single base substitution G A downstream_gene_variant BRCA-UK 19 1250136 1250136 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-UK 19 1250136 1250136 single base substitution C T upstream_gene_variant BRCA-UK 19 1253177 1253177 single base substitution C T downstream_gene_variant BRCA-UK 19 1253177 1253177 single base substitution C T intron_variant BRCA-UK 19 1253177 1253177 single base substitution C T upstream_gene_variant BRCA-UK 19 1253685 1253685 single base substitution G C downstream_gene_variant BRCA-UK 19 1253685 1253685 single base substitution G C exon_variant BRCA-UK 19 1253685 1253685 single base substitution G C intron_variant BRCA-UK 19 1254685 1254685 single base substitution G A downstream_gene_variant BRCA-UK 19 1254685 1254685 single base substitution G A intron_variant BRCA-UK 19 1258743 1258743 single base substitution A G 3_prime_UTR_variant BRCA-UK 19 1258743 1258743 single base substitution A G downstream_gene_variant BTCA-JP 19 1254338 1254338 deletion of <=200bp C - downstream_gene_variant BTCA-JP 19 1254338 1254338 deletion of <=200bp C - frameshift_variant S186 BTCA-JP 19 1255480 1255480 single base substitution A G downstream_gene_variant BTCA-JP 19 1255480 1255480 single base substitution A G missense_variant I306V 916A>G BTCA-JP 19 1257254 1257254 single base substitution G C downstream_gene_variant BTCA-JP 19 1257254 1257254 single base substitution G C missense_variant E464Q 1390G>C CLLE-ES 19 1246772 1246772 single base substitution T C upstream_gene_variant CLLE-ES 19 1253458 1253458 single base substitution T G downstream_gene_variant CLLE-ES 19 1253458 1253458 single base substitution T G intron_variant CLLE-ES 19 1253458 1253458 single base substitution T G upstream_gene_variant CLLE-ES 19 1255756 1255756 single base substitution G A downstream_gene_variant CLLE-ES 19 1255756 1255756 single base substitution G A intron_variant COAD-US 19 1251609 1251609 single base substitution C A exon_variant COAD-US 19 1251609 1251609 single base substitution C A missense_variant S94R 282C>A COAD-US 19 1251609 1251609 single base substitution C A upstream_gene_variant COAD-US 19 1254980 1254980 deletion of <=200bp C - downstream_gene_variant COAD-US 19 1254980 1254980 deletion of <=200bp C - frameshift_variant A259 COAD-US 19 1255006 1255006 single base substitution G A downstream_gene_variant COAD-US 19 1255006 1255006 single base substitution G A missense_variant V268I 802G>A COAD-US 19 1255556 1255556 single base substitution G A downstream_gene_variant COAD-US 19 1255556 1255556 single base substitution G A missense_variant R331H 992G>A COAD-US 19 1256998 1256998 single base substitution C T downstream_gene_variant COAD-US 19 1256998 1256998 single base substitution C T synonymous_variant D378D 1134C>T COAD-US 19 1257161 1257161 deletion of <=200bp G - downstream_gene_variant COAD-US 19 1257161 1257161 deletion of <=200bp G - frameshift_variant G433 COAD-US 19 1257203 1257203 single base substitution G A downstream_gene_variant COAD-US 19 1257203 1257203 single base substitution G A missense_variant D447N 1339G>A COCA-CN 19 1243947 1243947 single base substitution T C upstream_gene_variant COCA-CN 19 1251408 1251408 single base substitution G T exon_variant COCA-CN 19 1251408 1251408 single base substitution G T intron_variant COCA-CN 19 1251408 1251408 single base substitution G T upstream_gene_variant COCA-CN 19 1251446 1251446 single base substitution G A exon_variant COCA-CN 19 1251446 1251446 single base substitution G A intron_variant COCA-CN 19 1251446 1251446 single base substitution G A upstream_gene_variant COCA-CN 19 1257279 1257279 single base substitution G A 3_prime_UTR_variant COCA-CN 19 1257279 1257279 single base substitution G A downstream_gene_variant EOPC-DE 19 1261263 1261263 single base substitution C A downstream_gene_variant EOPC-DE 19 1261499 1261499 single base substitution G T downstream_gene_variant EOPC-DE 19 1261501 1261501 single base substitution T C downstream_gene_variant ESAD-UK 19 1245863 1245863 deletion of <=200bp C - upstream_gene_variant ESAD-UK 19 1246278 1246278 single base substitution C T upstream_gene_variant ESAD-UK 19 1246445 1246445 single base substitution C T upstream_gene_variant ESAD-UK 19 1248238 1248238 single base substitution G A upstream_gene_variant ESAD-UK 19 1249442 1249442 single base substitution C T intron_variant ESAD-UK 19 1249442 1249442 single base substitution C T upstream_gene_variant ESAD-UK 19 1250948 1250948 single base substitution C G intron_variant ESAD-UK 19 1250948 1250948 single base substitution C G upstream_gene_variant ESAD-UK 19 1251149 1251149 single base substitution C T intron_variant ESAD-UK 19 1251149 1251149 single base substitution C T upstream_gene_variant ESAD-UK 19 1251183 1251183 single base substitution T A intron_variant ESAD-UK 19 1251183 1251183 single base substitution T A upstream_gene_variant ESAD-UK 19 1251828 1251828 single base substitution C T intron_variant ESAD-UK 19 1251828 1251828 single base substitution C T upstream_gene_variant ESAD-UK 19 1252365 1252365 single base substitution G A downstream_gene_variant ESAD-UK 19 1252365 1252365 single base substitution G A intron_variant ESAD-UK 19 1252365 1252365 single base substitution G A upstream_gene_variant ESAD-UK 19 1252731 1252731 single base substitution C G downstream_gene_variant ESAD-UK 19 1252731 1252731 single base substitution C G intron_variant ESAD-UK 19 1252731 1252731 single base substitution C G upstream_gene_variant ESAD-UK 19 1255978 1255978 single base substitution C T downstream_gene_variant ESAD-UK 19 1255978 1255978 single base substitution C T intron_variant ESAD-UK 19 1256343 1256343 single base substitution G T downstream_gene_variant ESAD-UK 19 1256343 1256343 single base substitution G T intron_variant ESAD-UK 19 1257622 1257622 single base substitution C T 3_prime_UTR_variant ESAD-UK 19 1257622 1257622 single base substitution C T downstream_gene_variant ESAD-UK 19 1260895 1260895 single base substitution G C downstream_gene_variant ESAD-UK 19 1260979 1260979 single base substitution A C downstream_gene_variant ESAD-UK 19 1264003 1264003 single base substitution C T downstream_gene_variant ESCA-CN 19 1250526 1250526 single base substitution C A missense_variant D77E 231C>A ESCA-CN 19 1250526 1250526 single base substitution C A upstream_gene_variant ESCA-CN 19 1251878 1251878 single base substitution T C exon_variant ESCA-CN 19 1251878 1251878 single base substitution T C missense_variant L121P 362T>C ESCA-CN 19 1251878 1251878 single base substitution T C missense_variant L23P 68T>C ESCA-CN 19 1251878 1251878 single base substitution T C upstream_gene_variant GBM-US 19 1250466 1250466 single base substitution C G synonymous_variant R57R 171C>G GBM-US 19 1250466 1250466 single base substitution C G upstream_gene_variant GBM-US 19 1257138 1257138 single base substitution G A downstream_gene_variant GBM-US 19 1257138 1257138 single base substitution G A missense_variant G425D 1274G>A GBM-US 19 1257154 1257154 single base substitution T G downstream_gene_variant GBM-US 19 1257154 1257154 single base substitution T G missense_variant S430R 1290T>G KIRC-US 19 1257108 1257108 single base substitution C T downstream_gene_variant KIRC-US 19 1257108 1257108 single base substitution C T missense_variant P415L 1244C>T KIRP-US 19 1257046 1257048 deletion of <=200bp GCT - downstream_gene_variant KIRP-US 19 1257046 1257048 deletion of <=200bp GCT - inframe_deletion RL394R LGG-US 19 1255053 1255053 single base substitution C T downstream_gene_variant LGG-US 19 1255053 1255053 single base substitution C T synonymous_variant T283T 849C>T LICA-CN 19 1257097 1257097 single base substitution C A downstream_gene_variant LICA-CN 19 1257097 1257097 single base substitution C A missense_variant D411E 1233C>A LICA-FR 19 1251423 1251423 single base substitution G C exon_variant LICA-FR 19 1251423 1251423 single base substitution G C intron_variant LICA-FR 19 1251423 1251423 single base substitution G C upstream_gene_variant LINC-JP 19 1244181 1244181 single base substitution G A upstream_gene_variant LINC-JP 19 1250491 1250491 single base substitution G T missense_variant V66L 196G>T LINC-JP 19 1250491 1250491 single base substitution G T upstream_gene_variant LINC-JP 19 1251767 1251767 single base substitution C T intron_variant LINC-JP 19 1251767 1251767 single base substitution C T upstream_gene_variant LINC-JP 19 1252416 1252416 insertion of <=200bp - G downstream_gene_variant LINC-JP 19 1252416 1252416 insertion of <=200bp - G intron_variant LINC-JP 19 1252416 1252416 insertion of <=200bp - G upstream_gene_variant LINC-JP 19 1254423 1254423 single base substitution G T downstream_gene_variant LINC-JP 19 1254423 1254423 single base substitution G T synonymous_variant S214S 642G>T LIRI-JP 19 1244368 1244368 single base substitution G T upstream_gene_variant LIRI-JP 19 1255369 1255369 single base substitution G T downstream_gene_variant LIRI-JP 19 1255369 1255369 single base substitution G T intron_variant LIRI-JP 19 1255973 1255973 single base substitution A G downstream_gene_variant LIRI-JP 19 1255973 1255973 single base substitution A G intron_variant LIRI-JP 19 1257195 1257195 single base substitution T C downstream_gene_variant LIRI-JP 19 1257195 1257195 single base substitution T C missense_variant L444S 1331T>C LIRI-JP 19 1257485 1257485 single base substitution A G 3_prime_UTR_variant LIRI-JP 19 1257485 1257485 single base substitution A G downstream_gene_variant LIRI-JP 19 1261443 1261443 single base substitution G C downstream_gene_variant LUSC-KR 19 1245525 1245525 single base substitution T G upstream_gene_variant LUSC-KR 19 1246481 1246481 single base substitution G A upstream_gene_variant LUSC-KR 19 1246640 1246640 single base substitution C T upstream_gene_variant LUSC-KR 19 1251410 1251410 single base substitution G T exon_variant LUSC-KR 19 1251410 1251410 single base substitution G T intron_variant LUSC-KR 19 1251410 1251410 single base substitution G T upstream_gene_variant LUSC-KR 19 1251830 1251830 single base substitution C G intron_variant LUSC-KR 19 1251830 1251830 single base substitution C G splice_region_variant LUSC-KR 19 1251830 1251830 single base substitution C G upstream_gene_variant LUSC-KR 19 1253499 1253499 single base substitution T G downstream_gene_variant LUSC-KR 19 1253499 1253499 single base substitution T G intron_variant LUSC-KR 19 1253499 1253499 single base substitution T G upstream_gene_variant LUSC-KR 19 1253523 1253523 single base substitution G A downstream_gene_variant LUSC-KR 19 1253523 1253523 single base substitution G A intron_variant LUSC-KR 19 1253523 1253523 single base substitution G A upstream_gene_variant LUSC-KR 19 1255789 1255789 single base substitution G T downstream_gene_variant LUSC-KR 19 1255789 1255789 single base substitution G T intron_variant LUSC-KR 19 1256774 1256774 single base substitution C G downstream_gene_variant LUSC-KR 19 1256774 1256774 single base substitution C G intron_variant LUSC-KR 19 1258287 1258287 single base substitution C T 3_prime_UTR_variant LUSC-KR 19 1258287 1258287 single base substitution C T downstream_gene_variant LUSC-KR 19 1258668 1258668 single base substitution T C 3_prime_UTR_variant LUSC-KR 19 1258668 1258668 single base substitution T C downstream_gene_variant LUSC-KR 19 1262515 1262515 single base substitution G A downstream_gene_variant LUSC-US 19 1251880 1251880 single base substitution G C exon_variant LUSC-US 19 1251880 1251880 single base substitution G C missense_variant E122Q 364G>C LUSC-US 19 1251880 1251880 single base substitution G C missense_variant E24Q 70G>C LUSC-US 19 1251880 1251880 single base substitution G C upstream_gene_variant LUSC-US 19 1255030 1255030 single base substitution G T downstream_gene_variant LUSC-US 19 1255030 1255030 single base substitution G T missense_variant A276S 826G>T LUSC-US 19 1255491 1255491 single base substitution C T downstream_gene_variant LUSC-US 19 1255491 1255491 single base substitution C T synonymous_variant I309I 927C>T LUSC-US 19 1255693 1255693 single base substitution G T downstream_gene_variant LUSC-US 19 1255693 1255693 single base substitution G T missense_variant G377W 1129G>T MALY-DE 19 1250792 1250792 single base substitution C T intron_variant MALY-DE 19 1250792 1250792 single base substitution C T upstream_gene_variant MALY-DE 19 1251447 1251447 single base substitution G A exon_variant MALY-DE 19 1251447 1251447 single base substitution G A intron_variant MALY-DE 19 1251447 1251447 single base substitution G A upstream_gene_variant MALY-DE 19 1255779 1255779 single base substitution C G downstream_gene_variant MALY-DE 19 1255779 1255779 single base substitution C G intron_variant MALY-DE 19 1256676 1256676 single base substitution C T downstream_gene_variant MALY-DE 19 1256676 1256676 single base substitution C T intron_variant MALY-DE 19 1258431 1258431 single base substitution G A 3_prime_UTR_variant MALY-DE 19 1258431 1258431 single base substitution G A downstream_gene_variant MALY-DE 19 1260280 1260280 single base substitution G A downstream_gene_variant MALY-DE 19 1260597 1260597 single base substitution C T downstream_gene_variant MALY-DE 19 1262381 1262381 single base substitution C A downstream_gene_variant MALY-DE 19 1262550 1262550 single base substitution T C downstream_gene_variant MALY-DE 19 1262551 1262551 single base substitution G T downstream_gene_variant MELA-AU 19 1243701 1243701 single base substitution G A upstream_gene_variant MELA-AU 19 1243867 1243867 single base substitution C T upstream_gene_variant MELA-AU 19 1244085 1244085 single base substitution C T upstream_gene_variant MELA-AU 19 1244198 1244198 single base substitution G A upstream_gene_variant MELA-AU 19 1244270 1244270 single base substitution C T upstream_gene_variant MELA-AU 19 1244306 1244306 single base substitution C T upstream_gene_variant MELA-AU 19 1244764 1244764 single base substitution C T upstream_gene_variant MELA-AU 19 1244801 1244802 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 1244906 1244906 single base substitution C T upstream_gene_variant MELA-AU 19 1246018 1246018 single base substitution C T upstream_gene_variant MELA-AU 19 1246157 1246157 single base substitution C T upstream_gene_variant MELA-AU 19 1246297 1246297 single base substitution A T upstream_gene_variant MELA-AU 19 1246441 1246441 single base substitution G A upstream_gene_variant MELA-AU 19 1247337 1247337 single base substitution T C upstream_gene_variant MELA-AU 19 1247543 1247544 multiple base substitution (>=2bp and <=200bp) TC AT upstream_gene_variant MELA-AU 19 1249698 1249698 single base substitution C T intron_variant MELA-AU 19 1249698 1249698 single base substitution C T upstream_gene_variant MELA-AU 19 1249874 1249874 single base substitution T A intron_variant MELA-AU 19 1249874 1249874 single base substitution T A upstream_gene_variant MELA-AU 19 1250071 1250071 single base substitution C T 5_prime_UTR_variant MELA-AU 19 1250071 1250071 single base substitution C T upstream_gene_variant MELA-AU 19 1250857 1250857 single base substitution C T intron_variant MELA-AU 19 1250857 1250857 single base substitution C T upstream_gene_variant MELA-AU 19 1250916 1250916 single base substitution C T intron_variant MELA-AU 19 1250916 1250916 single base substitution C T upstream_gene_variant MELA-AU 19 1251471 1251471 single base substitution C T exon_variant MELA-AU 19 1251471 1251471 single base substitution C T intron_variant MELA-AU 19 1251471 1251471 single base substitution C T upstream_gene_variant MELA-AU 19 1252185 1252185 single base substitution C T downstream_gene_variant MELA-AU 19 1252185 1252185 single base substitution C T intron_variant MELA-AU 19 1252185 1252185 single base substitution C T upstream_gene_variant MELA-AU 19 1252328 1252328 single base substitution C T downstream_gene_variant MELA-AU 19 1252328 1252328 single base substitution C T intron_variant MELA-AU 19 1252328 1252328 single base substitution C T upstream_gene_variant MELA-AU 19 1252569 1252569 single base substitution C T downstream_gene_variant MELA-AU 19 1252569 1252569 single base substitution C T intron_variant MELA-AU 19 1252569 1252569 single base substitution C T upstream_gene_variant MELA-AU 19 1252631 1252632 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 1252631 1252632 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 1252631 1252632 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 1252747 1252747 single base substitution C T downstream_gene_variant MELA-AU 19 1252747 1252747 single base substitution C T intron_variant MELA-AU 19 1252747 1252747 single base substitution C T upstream_gene_variant MELA-AU 19 1253698 1253698 single base substitution C T downstream_gene_variant MELA-AU 19 1253698 1253698 single base substitution C T exon_variant MELA-AU 19 1253698 1253698 single base substitution C T intron_variant MELA-AU 19 1253866 1253867 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 1253866 1253867 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 19 1253866 1253867 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 1257019 1257019 single base substitution C T downstream_gene_variant MELA-AU 19 1257019 1257019 single base substitution C T synonymous_variant N385N 1155C>T MELA-AU 19 1257216 1257216 single base substitution C T downstream_gene_variant MELA-AU 19 1257216 1257216 single base substitution C T missense_variant S451F 1352C>T MELA-AU 19 1257279 1257279 single base substitution G C 3_prime_UTR_variant MELA-AU 19 1257279 1257279 single base substitution G C downstream_gene_variant MELA-AU 19 1257374 1257374 single base substitution C T 3_prime_UTR_variant MELA-AU 19 1257374 1257374 single base substitution C T downstream_gene_variant MELA-AU 19 1257610 1257610 single base substitution C T 3_prime_UTR_variant MELA-AU 19 1257610 1257610 single base substitution C T downstream_gene_variant MELA-AU 19 1257677 1257677 single base substitution C T 3_prime_UTR_variant MELA-AU 19 1257677 1257677 single base substitution C T downstream_gene_variant MELA-AU 19 1257799 1257799 single base substitution C T 3_prime_UTR_variant MELA-AU 19 1257799 1257799 single base substitution C T downstream_gene_variant MELA-AU 19 1258226 1258226 single base substitution C T 3_prime_UTR_variant MELA-AU 19 1258226 1258226 single base substitution C T downstream_gene_variant MELA-AU 19 1258464 1258464 single base substitution C T 3_prime_UTR_variant MELA-AU 19 1258464 1258464 single base substitution C T downstream_gene_variant MELA-AU 19 1258900 1258900 single base substitution A C 3_prime_UTR_variant MELA-AU 19 1258900 1258900 single base substitution A C downstream_gene_variant MELA-AU 19 1259011 1259011 single base substitution C T 3_prime_UTR_variant MELA-AU 19 1259011 1259011 single base substitution C T downstream_gene_variant MELA-AU 19 1259697 1259697 single base substitution T A downstream_gene_variant MELA-AU 19 1259861 1259861 single base substitution C T downstream_gene_variant MELA-AU 19 1260157 1260157 single base substitution C T downstream_gene_variant MELA-AU 19 1260532 1260532 single base substitution G A downstream_gene_variant MELA-AU 19 1260775 1260775 single base substitution G A downstream_gene_variant MELA-AU 19 1260791 1260791 single base substitution C T downstream_gene_variant MELA-AU 19 1260955 1260955 single base substitution C T downstream_gene_variant MELA-AU 19 1260955 1260956 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 1260967 1260967 single base substitution C T downstream_gene_variant MELA-AU 19 1260975 1260975 single base substitution G A downstream_gene_variant MELA-AU 19 1261035 1261035 single base substitution G A downstream_gene_variant MELA-AU 19 1261038 1261038 single base substitution G A downstream_gene_variant MELA-AU 19 1261048 1261048 single base substitution G A downstream_gene_variant MELA-AU 19 1261114 1261114 single base substitution C T downstream_gene_variant MELA-AU 19 1261256 1261256 single base substitution C T downstream_gene_variant MELA-AU 19 1261790 1261790 single base substitution C A downstream_gene_variant MELA-AU 19 1262027 1262027 single base substitution G A downstream_gene_variant MELA-AU 19 1262231 1262231 single base substitution C T downstream_gene_variant MELA-AU 19 1263456 1263456 single base substitution C T downstream_gene_variant ORCA-IN 19 1246549 1246549 single base substitution A G upstream_gene_variant ORCA-IN 19 1254401 1254401 single base substitution G T downstream_gene_variant ORCA-IN 19 1254401 1254401 single base substitution G T missense_variant S207I 620G>T ORCA-IN 19 1254900 1254900 single base substitution G T downstream_gene_variant ORCA-IN 19 1254900 1254900 single base substitution G T splice_acceptor_variant OV-AU 19 1252939 1252939 single base substitution C T downstream_gene_variant OV-AU 19 1252939 1252939 single base substitution C T intron_variant OV-AU 19 1252939 1252939 single base substitution C T upstream_gene_variant PACA-AU 19 1244015 1244015 single base substitution G T upstream_gene_variant PACA-AU 19 1244269 1244269 single base substitution G A upstream_gene_variant PACA-AU 19 1244611 1244611 insertion of <=200bp - TTT upstream_gene_variant PACA-AU 19 1246818 1246841 deletion of <=200bp TCTTTTTTTTTTTTTTTTTTTTTT - upstream_gene_variant PACA-AU 19 1250034 1250034 single base substitution G T 5_prime_UTR_variant PACA-AU 19 1250034 1250034 single base substitution G T upstream_gene_variant PACA-AU 19 1251934 1251934 single base substitution G T downstream_gene_variant PACA-AU 19 1251934 1251934 single base substitution G T intron_variant PACA-AU 19 1251934 1251934 single base substitution G T upstream_gene_variant PACA-AU 19 1251935 1251935 single base substitution C T downstream_gene_variant PACA-AU 19 1251935 1251935 single base substitution C T intron_variant PACA-AU 19 1251935 1251935 single base substitution C T upstream_gene_variant PACA-AU 19 1255563 1255563 single base substitution C T downstream_gene_variant PACA-AU 19 1255563 1255563 single base substitution C T synonymous_variant H333H 999C>T PACA-AU 19 1262363 1262363 single base substitution A G downstream_gene_variant PACA-CA 19 1246445 1246445 single base substitution C T upstream_gene_variant PACA-CA 19 1251273 1251273 single base substitution G C exon_variant PACA-CA 19 1251273 1251273 single base substitution G C intron_variant PACA-CA 19 1251273 1251273 single base substitution G C upstream_gene_variant PACA-CA 19 1252386 1252386 single base substitution T C downstream_gene_variant PACA-CA 19 1252386 1252386 single base substitution T C intron_variant PACA-CA 19 1252386 1252386 single base substitution T C upstream_gene_variant PACA-CA 19 1252691 1252691 single base substitution C G downstream_gene_variant PACA-CA 19 1252691 1252691 single base substitution C G intron_variant PACA-CA 19 1252691 1252691 single base substitution C G upstream_gene_variant PACA-CA 19 1256533 1256533 single base substitution C T downstream_gene_variant PACA-CA 19 1256533 1256533 single base substitution C T intron_variant PACA-CA 19 1258801 1258801 single base substitution A G 3_prime_UTR_variant PACA-CA 19 1258801 1258801 single base substitution A G downstream_gene_variant PACA-CA 19 1258802 1258802 single base substitution G A 3_prime_UTR_variant PACA-CA 19 1258802 1258802 single base substitution G A downstream_gene_variant PACA-CA 19 1258997 1258997 single base substitution G T 3_prime_UTR_variant PACA-CA 19 1258997 1258997 single base substitution G T downstream_gene_variant PACA-CA 19 1260286 1260286 single base substitution C G downstream_gene_variant PAEN-AU 19 1257494 1257494 single base substitution A C 3_prime_UTR_variant PAEN-AU 19 1257494 1257494 single base substitution A C downstream_gene_variant PAEN-IT 19 1261010 1261010 single base substitution C T downstream_gene_variant PBCA-DE 19 1244418 1244418 single base substitution G A upstream_gene_variant PBCA-DE 19 1249038 1249038 single base substitution C T intron_variant PBCA-DE 19 1249038 1249038 single base substitution C T upstream_gene_variant PBCA-DE 19 1262723 1262723 single base substitution G A downstream_gene_variant PRAD-CA 19 1246445 1246445 single base substitution C T upstream_gene_variant PRAD-CA 19 1255637 1255637 single base substitution C G downstream_gene_variant PRAD-CA 19 1255637 1255637 single base substitution C G missense_variant A358G 1073C>G PRAD-UK 19 1262078 1262078 single base substitution A C downstream_gene_variant RECA-EU 19 1251631 1251631 single base substitution G A exon_variant RECA-EU 19 1251631 1251631 single base substitution G A missense_variant V102M 304G>A RECA-EU 19 1251631 1251631 single base substitution G A missense_variant V4M 10G>A RECA-EU 19 1251631 1251631 single base substitution G A upstream_gene_variant SKCA-BR 19 1245876 1245876 single base substitution C T upstream_gene_variant SKCA-BR 19 1246410 1246445 deletion of <=200bp TGGTGTCCATTCCACTCCCGACCAGACTGAGGTGAC - upstream_gene_variant SKCA-BR 19 1246445 1246445 single base substitution C T upstream_gene_variant SKCA-BR 19 1247619 1247619 single base substitution G A upstream_gene_variant SKCA-BR 19 1248207 1248207 single base substitution T C upstream_gene_variant SKCA-BR 19 1248466 1248466 single base substitution A G upstream_gene_variant SKCA-BR 19 1248500 1248500 single base substitution G C upstream_gene_variant SKCA-BR 19 1248508 1248508 single base substitution G C upstream_gene_variant SKCA-BR 19 1249646 1249646 single base substitution G C intron_variant SKCA-BR 19 1249646 1249646 single base substitution G C upstream_gene_variant SKCA-BR 19 1249988 1249989 deletion of <=200bp GC - 5_prime_UTR_variant SKCA-BR 19 1249988 1249989 deletion of <=200bp GC - upstream_gene_variant SKCA-BR 19 1249992 1249992 single base substitution C T 5_prime_UTR_variant SKCA-BR 19 1249992 1249992 single base substitution C T upstream_gene_variant SKCA-BR 19 1249994 1249994 single base substitution T C 5_prime_UTR_variant SKCA-BR 19 1249994 1249994 single base substitution T C upstream_gene_variant SKCA-BR 19 1250824 1250824 single base substitution A C intron_variant SKCA-BR 19 1250824 1250824 single base substitution A C upstream_gene_variant SKCA-BR 19 1251073 1251073 single base substitution A G intron_variant SKCA-BR 19 1251073 1251073 single base substitution A G upstream_gene_variant SKCA-BR 19 1251741 1251741 single base substitution G C intron_variant SKCA-BR 19 1251741 1251741 single base substitution G C upstream_gene_variant SKCA-BR 19 1251747 1251747 single base substitution A C intron_variant SKCA-BR 19 1251747 1251747 single base substitution A C upstream_gene_variant SKCA-BR 19 1253043 1253043 insertion of <=200bp - TG downstream_gene_variant SKCA-BR 19 1253043 1253043 insertion of <=200bp - TG intron_variant SKCA-BR 19 1253043 1253043 insertion of <=200bp - TG upstream_gene_variant SKCA-BR 19 1253046 1253046 single base substitution A G downstream_gene_variant SKCA-BR 19 1253046 1253046 single base substitution A G intron_variant SKCA-BR 19 1253046 1253046 single base substitution A G upstream_gene_variant SKCA-BR 19 1253933 1253933 single base substitution A C downstream_gene_variant SKCA-BR 19 1253933 1253933 single base substitution A C exon_variant SKCA-BR 19 1253933 1253933 single base substitution A C intron_variant SKCA-BR 19 1257106 1257106 single base substitution T G downstream_gene_variant SKCA-BR 19 1257106 1257106 single base substitution T G synonymous_variant G414G 1242T>G SKCA-BR 19 1258036 1258036 single base substitution A C 3_prime_UTR_variant SKCA-BR 19 1258036 1258036 single base substitution A C downstream_gene_variant SKCA-BR 19 1258366 1258366 single base substitution A C 3_prime_UTR_variant SKCA-BR 19 1258366 1258366 single base substitution A C downstream_gene_variant SKCA-BR 19 1260310 1260310 single base substitution A C downstream_gene_variant SKCA-BR 19 1260503 1260503 single base substitution A G downstream_gene_variant SKCA-BR 19 1260827 1260827 single base substitution T G downstream_gene_variant SKCA-BR 19 1260831 1260831 single base substitution A G downstream_gene_variant SKCA-BR 19 1260944 1260944 single base substitution C G downstream_gene_variant SKCA-BR 19 1260958 1260958 single base substitution G A downstream_gene_variant SKCM-US 19 1251902 1251902 single base substitution T C downstream_gene_variant SKCM-US 19 1251902 1251902 single base substitution T C splice_donor_variant SKCM-US 19 1251902 1251902 single base substitution T C upstream_gene_variant SKCM-US 19 1254187 1254187 single base substitution C T downstream_gene_variant SKCM-US 19 1254187 1254187 single base substitution C T exon_variant SKCM-US 19 1254187 1254187 single base substitution C T missense_variant R136C 406C>T SKCM-US 19 1254187 1254187 single base substitution C T missense_variant R81C 241C>T SKCM-US 19 1254385 1254385 single base substitution C T downstream_gene_variant SKCM-US 19 1254385 1254385 single base substitution C T missense_variant P202S 604C>T SKCM-US 19 1254977 1254977 single base substitution C T downstream_gene_variant SKCM-US 19 1254977 1254977 single base substitution C T missense_variant P258L 773C>T SKCM-US 19 1255597 1255597 single base substitution C T downstream_gene_variant SKCM-US 19 1255597 1255597 single base substitution C T synonymous_variant L345L 1033C>T STAD-US 19 1254309 1254309 single base substitution T C downstream_gene_variant STAD-US 19 1254309 1254309 single base substitution T C synonymous_variant A176A 528T>C STAD-US 19 1254338 1254338 deletion of <=200bp C - downstream_gene_variant STAD-US 19 1254338 1254338 deletion of <=200bp C - frameshift_variant S186 STAD-US 19 1257093 1257093 single base substitution G A downstream_gene_variant STAD-US 19 1257093 1257093 single base substitution G A missense_variant R410Q 1229G>A STAD-US 19 1257094 1257094 single base substitution G C downstream_gene_variant STAD-US 19 1257094 1257094 single base substitution G C synonymous_variant R410R 1230G>C STAD-US 19 1257102 1257102 single base substitution G A downstream_gene_variant STAD-US 19 1257102 1257102 single base substitution G A missense_variant R413Q 1238G>A STAD-US 19 1257111 1257111 single base substitution A G downstream_gene_variant STAD-US 19 1257111 1257111 single base substitution A G missense_variant Y416C 1247A>G STAD-US 19 1257161 1257161 single base substitution G A downstream_gene_variant STAD-US 19 1257161 1257161 single base substitution G A missense_variant G433R 1297G>A STAD-US 19 1257208 1257208 single base substitution C T downstream_gene_variant STAD-US 19 1257208 1257208 single base substitution C T synonymous_variant F448F 1344C>T THCA-SA 19 1250109 1250109 single base substitution C A 5_prime_UTR_variant THCA-SA 19 1250109 1250109 single base substitution C A upstream_gene_variant THCA-SA 19 1256998 1256998 single base substitution C T downstream_gene_variant THCA-SA 19 1256998 1256998 single base substitution C T synonymous_variant D378D 1134C>T UCEC-US 19 1244149 1244149 single base substitution G A upstream_gene_variant UCEC-US 19 1254454 1254454 single base substitution G A downstream_gene_variant UCEC-US 19 1254454 1254454 single base substitution G A missense_variant A225T 673G>A UCEC-US 19 1254477 1254477 single base substitution G A downstream_gene_variant UCEC-US 19 1254477 1254477 single base substitution G A splice_region_variant UCEC-US 19 1255012 1255012 single base substitution G T downstream_gene_variant UCEC-US 19 1255012 1255012 single base substitution G T stop_gained E270* 808G>T UCEC-US 19 1255464 1255464 single base substitution G A downstream_gene_variant UCEC-US 19 1255464 1255464 single base substitution G A synonymous_variant R300R 900G>A UCEC-US 19 1255564 1255564 single base substitution G A downstream_gene_variant UCEC-US 19 1255564 1255564 single base substitution G A missense_variant A334T 1000G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-FI-A2EW-01 COSM991290 c.808G>T p.E270* Substitution - Nonsense 19:1255013-1255013 + TCGA-12-0615-01 COSM3403770 c.171C>G p.R57R Substitution - coding silent 19:1250467-1250467 + PD6722a COSM5778893 c.130G>C p.D44H Substitution - Missense 19:1250426-1250426 + TCGA-39-5031-01 COSM709974 c.364G>C p.E122Q Substitution - Missense 19:1251881-1251881 + TCGA-D1-A177-01 COSM991278 c.323C>G p.S108C Substitution - Missense 19:1251840-1251840 + HCC159 COSM3718086 c.196G>T p.V66L Substitution - Missense 19:1250492-1250492 + TCGA-HT-7677-01 COSM3970718 c.849C>T p.T283T Substitution - coding silent 19:1255054-1255054 + TCGA-34-5239-01 COSM709966 c.826G>T p.A276S Substitution - Missense 19:1255031-1255031 + LUAD-S01345 COSM396996 c.1163C>T p.T388M Substitution - Missense 19:1257028-1257028 + MOLT-4 COSM1680467 c.1005G>T p.Q335H Substitution - Missense 19:1255570-1255570 + Pat_14_A COSM5854683 c.1352C>T p.S451F Substitution - Missense 19:1257217-1257217 + BD183T COSM5508198 c.916A>G p.I306V Substitution - Missense 19:1255481-1255481 + HN_62857_2 COSM124441 c.393C>G p.D131E Substitution - Missense 19:1254175-1254175 + C135 COSM4617871 c.952C>T p.R318W Substitution - Missense 19:1255517-1255517 + 2521249 COSM5888423 c.779C>T p.P260L Substitution - Missense 19:1254984-1254984 + EGC3 COSM5056228 c.454G>A p.V152M Substitution - Missense 19:1254236-1254236 + T3021 COSM1390518 c.1297delG p.G434fs*>35 Deletion - Frameshift 19:1257162-1257162 + TCGA-FS-A4F0-06 COSM3528742 c.406C>T p.R136C Substitution - Missense 19:1254188-1254188 + TCGA-BR-6852-01 COSM4074358 c.1238G>A p.R413Q Substitution - Missense 19:1257103-1257103 + TCGA-AA-3492-01 COSM1390518 c.1297delG p.G434fs*>35 Deletion - Frameshift 19:1257162-1257162 + T3091 COSM4702180 c.1220A>G p.K407R Substitution - Missense 19:1257085-1257085 + DLD1 COSM4623823 c.292T>G p.L98V Substitution - Missense 19:1251620-1251620 + H358 COSM709966 c.826G>T p.A276S Substitution - Missense 19:1255031-1255031 + RK308_C01 COSM3742743 c.1331T>C p.L444S Substitution - Missense 19:1257196-1257196 + TCGA-AD-5900-01 COSM1390515 c.776delC p.R261fs*13 Deletion - Frameshift 19:1254981-1254981 + HCC159T COSM3718086 c.196G>T p.V66L Substitution - Missense 19:1250492-1250492 + HCT116 COSM1680468 c.1295G>A p.S432N Substitution - Missense 19:1257160-1257160 + T388 COSM4702181 c.1236G>A p.A412A Substitution - coding silent 19:1257101-1257101 + TCGA-22-4599-01 COSM709964 c.1129G>T p.G377W Substitution - Missense 19:1255694-1255694 + GC_307T-GC_307N COSM4771738 c.1207C>T p.R403W Substitution - Missense 19:1257072-1257072 + PTC-10C COSM4131215 c.102C>T p.A34A Substitution - coding silent 19:1250398-1250398 + Au10 COSM5598495 c.951C>T p.T317T Substitution - coding silent 19:1255516-1255516 + BD130T COSM2815886 c.557delC p.V188fs*86 Deletion - Frameshift 19:1254339-1254339 + QC2-22-T2 COSM5653075 c.355C>G p.Q119E Substitution - Missense 19:1251872-1251872 + 2090425 COSM1738196 c.683C>T p.T228I Substitution - Missense 19:1254465-1254465 + P07-144 COSM245688 c.347C>G p.S116C Substitution - Missense 19:1251864-1251864 + LS180 COSM2815886 c.557delC p.V188fs*86 Deletion - Frameshift 19:1254339-1254339 + ESCC-078T COSM3937858 c.362T>C p.L121P Substitution - Missense 19:1251879-1251879 + TCGA-AZ-4682-01 COSM1390510 c.282C>A p.S94R Substitution - Missense 19:1251610-1251610 + TCGA-CU-A3YL-01 COSM3796634 c.842C>G p.S281* Substitution - Nonsense 19:1255047-1255047 + SNU-C2B COSM4278211 c.1296C>T p.S432S Substitution - coding silent 19:1257161-1257161 + Gp5D COSM2815896 c.867C>T p.H289H Substitution - coding silent 19:1255432-1255432 + ME018T COSM225397 c.1243C>T p.P415S Substitution - Missense 19:1257108-1257108 + CCK81 COSM4620732 c.595G>A p.A199T Substitution - Missense 19:1254377-1254377 + TCGA-AZ-5407-01 COSM438607 c.1134C>T p.D378D Substitution - coding silent 19:1256999-1256999 + 3N40-VS-3T40 COSM4981644 c.770G>A p.S257N Substitution - Missense 19:1254975-1254975 + J73_T COSM3959551 c.322-8C>G p.? Unknown 19:1251831-1251831 + HCC19 COSM1611580 c.642G>T p.S214S Substitution - coding silent 19:1254424-1254424 + TCGA-BS-A0U8-01 COSM991291 c.900G>A p.R300R Substitution - coding silent 19:1255465-1255465 + 587278 COSM1215079 c.1142G>A p.R381Q Substitution - Missense 19:1257007-1257007 + ESCC_169 COSM5648911 c.374C>T p.T125M Substitution - Missense 19:1251891-1251891 + TCGA-D7-6528-01 COSM4074357 c.1230G>C p.R410R Substitution - coding silent 19:1257095-1257095 + T2944 COSM4702182 c.1272C>T p.A424A Substitution - coding silent 19:1257137-1257137 + 8049749 COSM3388592 c.999C>T p.H333H Substitution - coding silent 19:1255564-1255564 + PDA_032 COSM4999598 c.274G>A p.D92N Substitution - Missense 19:1251602-1251602 + TCGA-GC-A3RC-01 COSM3796635 c.1327G>A p.G443S Substitution - Missense 19:1257192-1257192 + YUGATOR COSM5388657 c.164G>A p.G55E Substitution - Missense 19:1250460-1250460 + 1517_PT COSM1390515 c.776delC p.R261fs*13 Deletion - Frameshift 19:1254981-1254981 + TCGA-F4-6809-01 COSM438607 c.1134C>T p.D378D Substitution - coding silent 19:1256999-1256999 + C0032T COSM4422535 c.304G>A p.V102M Substitution - Missense 19:1251632-1251632 + T1764 COSM4702178 c.796G>A p.G266S Substitution - Missense 19:1255001-1255001 + OSCC-GB_01060111 COSM4882738 c.620G>T p.S207I Substitution - Missense 19:1254402-1254402 + Gp2D COSM2815896 c.867C>T p.H289H Substitution - coding silent 19:1255432-1255432 + TCGA-D9-A4Z3-01 COSM3528749 c.1033C>T p.L345L Substitution - coding silent 19:1255598-1255598 + TCGA-EE-A29D-06 COSM3528740 c.384+2T>C p.? Unknown 19:1251903-1251903 + TCGA-BR-8078-01 COSM4074359 c.1247A>G p.Y416C Substitution - Missense 19:1257112-1257112 + YUKAT COSM3796635 c.1327G>A p.G443S Substitution - Missense 19:1257192-1257192 + TCGA-D1-A167-01 COSM991288 c.673G>A p.A225T Substitution - Missense 19:1254455-1254455 + YUHAMA COSM5388659 c.710C>T p.S237F Substitution - Missense 19:1254915-1254915 + 1517_CLM COSM1390515 c.776delC p.R261fs*13 Deletion - Frameshift 19:1254981-1254981 + TCGA-D5-6928-01 COSM1390519 c.1339G>A p.D447N Substitution - Missense 19:1257204-1257204 + TCGA-BS-A0UV-01 COSM991289 c.696G>A p.E232E Substitution - coding silent 19:1254478-1254478 + LUAD_E00522 COSM352714 c.1301G>T p.G434V Substitution - Missense 19:1257166-1257166 + TCGA-BR-8360-01 COSM4074361 c.1344C>T p.F448F Substitution - coding silent 19:1257209-1257209 + TCGA-G4-6309-01 COSM1390516 c.802G>A p.V268I Substitution - Missense 19:1255007-1255007 + RH30SJ_ COSM2815834 c.133C>G p.L45V Substitution - Missense 19:1250429-1250429 + YUGATOR COSM5388658 c.174G>A p.K58K Substitution - coding silent 19:1250470-1250470 + TCGA-66-2785-01 COSM709965 c.927C>T p.I309I Substitution - coding silent 19:1255492-1255492 + T3021 COSM4074355 c.528T>C p.A176A Substitution - coding silent 19:1254310-1254310 + TCGA-EE-A29D-06 COSM3528747 c.604C>T p.P202S Substitution - Missense 19:1254386-1254386 + TCGA-HU-A4H8-01 COSM4074360 c.1297G>A p.G433R Substitution - Missense 19:1257162-1257162 + SNUH_G16_S1 COSM3680784 c.1023G>A p.P341P Substitution - coding silent 19:1255588-1255588 + I2L-P7-Tumor-Organoid COSM1390515 c.776delC p.R261fs*13 Deletion - Frameshift 19:1254981-1254981 + HCC151T COSM5808747 c.1233C>A p.D411E Substitution - Missense 19:1257098-1257098 + ESCC_BICR_033T COSM5439717 c.231C>A p.D77E Substitution - Missense 19:1250527-1250527 + OSCC-GB_01000111 COSM4884261 c.697-1G>T p.? Unknown 19:1254901-1254901 + 1016 COSM5730496 c.576_577delCC p.C192fs*110 Deletion - Frameshift 19:1254358-1254359 + TCGA-30-1714-01 COSM1325493 c.1326C>T p.S442S Substitution - coding silent 19:1257191-1257191 + LS174T COSM2815886 c.557delC p.V188fs*86 Deletion - Frameshift 19:1254339-1254339 + TCGA-A3-3385-01 COSM474194 c.1244C>T p.P415L Substitution - Missense 19:1257109-1257109 + TCGA-D9-A4Z3-01 COSM3528748 c.773C>T p.P258L Substitution - Missense 19:1254978-1254978 + TCGA-HU-A4GQ-01 COSM4074356 c.1229G>A p.R410Q Substitution - Missense 19:1257094-1257094 + TCGA-AA-3712-01 COSM438607 c.1134C>T p.D378D Substitution - coding silent 19:1256999-1256999 + I2L-P7-Tumor-Organoid COSM5364752 c.1311delC p.S439fs*>30 Deletion - Frameshift 19:1257176-1257176 + LIM2099 COSM4641118 c.1356G>A p.V452V Substitution - coding silent 19:1257221-1257221 + T3535 COSM2815886 c.557delC p.V188fs*86 Deletion - Frameshift 19:1254339-1254339 + TCGA-76-6285-01 COSM3748042 c.1290T>G p.S430R Substitution - Missense 19:1257155-1257155 + T368 COSM4702179 c.901C>T p.R301C Substitution - Missense 19:1255466-1255466 + ESCC_25 COSM5626725 c.990C>T p.L330L Substitution - coding silent 19:1255555-1255555 + TCGA-D1-A103-01 COSM991292 c.1000G>A p.A334T Substitution - Missense 19:1255565-1255565 + TCGA-D5-6928-01 COSM1390517 c.992G>A p.R331H Substitution - Missense 19:1255557-1255557 + HCC19T COSM1611580 c.642G>T p.S214S Substitution - coding silent 19:1254424-1254424 + TCGA-28-5213-01 COSM3403772 c.1274G>A p.G425D Substitution - Missense 19:1257139-1257139 + SH-0622 COSM5017378 c.231_232insA p.T78fs*15 Insertion - Frameshift 19:1250527-1250528 + HCT-116 COSM1680468 c.1295G>A p.S432N Substitution - Missense 19:1257160-1257160 + LUAD-E01014 COSM393943 c.1022C>A p.P341Q Substitution - Missense 19:1255587-1255587 + 40M COSM5585773 c.525C>T p.A175A Substitution - coding silent 19:1254307-1254307 + BD114T COSM5504427 c.1390G>C p.E464Q Substitution - Missense 19:1257255-1257255 + TCGA-BR-8372-01 COSM4074355 c.528T>C p.A176A Substitution - coding silent 19:1254310-1254310 + PD11343a COSM5793101 c.453C>T p.F151F Substitution - coding silent 19:1254235-1254235 + 10-P4110 COSM4580639 c.1157G>A p.R386H Substitution - Missense 19:1257022-1257022 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.465529 19p13.3 606700

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T Missense p.T239S c.715A>T 19 1254919 LUAD C A Synonymous p.I306I c.918C>A 19 1255482 BRCA CC GT Missense p.S451C c.1352_1353delinsGT 19 1257216 CM C G Missense p.D131E c.393C>G 19 1254174 HNSC C G Synonymous p.R57R c.171C>G 19 1250466 GBM C T Missense p.P415L c.1244C>T 19 1257108 HNSC C T Missense p.P415L c.1244C>T 19 1257108 RCCC C T Missense p.P415S c.1243C>T 19 1257107 CM C T Synonymous p.T283T c.849C>T 19 1255053 LGG G A 3-UTRSNV . c.1404+53G>A 19 1257321 ESCA G A Missense p.G425D c.1274G>A 19 1257138 GBM G A Missense p.R413Q c.1238G>A 19 1257102 STAD G A Synonymous p.R300R c.900G>A 19 1255464 UCEC G C Missense p.E122Q c.364G>C 19 1251880 LUSC G C Synonymous p.R410R c.1230G>C 19 1257094 STAD G T Missense p.A276S c.826G>T 19 1255030 LUSC G T Missense p.G377W c.1129G>T 19 1255693 LUSC G T Nonsense p.E270* c.808G>T 19 1255012 UCEC T G Missense p.S430R c.1290T>G 19 1257154 GBM TT - 3-UTRDeletion . c.1404+132_1404+133delTT 19 1257395 ESCA