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 3 127391916 127391916 + IGR SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr3:127391916C>T BLCA 3 127396314 127396314 + Missense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr3:127396314C>A c.769C>A c.(769-771)Ctt>Att p.L257I BLCA 3 127399294 127399294 + Silent SNP C C T TCGA-GV-A6ZA-01A-12D-A339-08 TCGA-GV-A6ZA-10A-01D-A339-08 g.chr3:127399294C>T c.1413C>T c.(1411-1413)ctC>ctT p.L471L BRCA 3 127395142 127395142 + Silent SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 g.chr3:127395142C>T c.348C>T c.(346-348)gaC>gaT p.D116D BRCA 3 127396605 127396605 + Frame_Shift_Del DEL C C - TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 g.chr3:127396605delC c.948delC c.(946-948)ggcfs p.G316fs COAD 3 127395140 127395140 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr3:127395140G>A c.346G>A c.(346-348)Gac>Aac p.D116N COAD 3 127395161 127395161 + Missense_Mutation SNP G G T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr3:127395161G>T c.367G>T c.(367-369)Ggg>Tgg p.G123W COAD 3 127396605 127396605 + Frame_Shift_Del DEL C C - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr3:127396605delC c.948delC c.(946-948)ggcfs p.G316fs COAD 3 127396675 127396675 + Missense_Mutation SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr3:127396675G>A c.1018G>A c.(1018-1020)Gac>Aac p.D340N COAD 3 127398930 127398930 + Missense_Mutation SNP G G A TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr3:127398930G>A c.1132G>A c.(1132-1134)Gag>Aag p.E378K COAD 3 127399146 127399148 + In_Frame_Del DEL AGG AGG - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr3:127399146_127399148delAGG c.1265_1267delAGG c.(1264-1269)aaggag>aag p.E424del COAD 3 127399158 127399158 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr3:127399158C>T c.1277C>T c.(1276-1278)gCg>gTg p.A426V COAD 3 127399219 127399219 + Silent SNP C C T TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr3:127399219C>T c.1338C>T c.(1336-1338)caC>caT p.H446H COADREAD 3 127395140 127395140 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr3:127395140G>A c.346G>A c.(346-348)Gac>Aac p.D116N COADREAD 3 127395161 127395161 + Missense_Mutation SNP G G T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr3:127395161G>T c.367G>T c.(367-369)Ggg>Tgg p.G123W COADREAD 3 127395267 127395267 + Missense_Mutation SNP A A T TCGA-AG-3726-01A-02W-0899-10 TCGA-AG-3726-10A-01W-0901-10 g.chr3:127395267A>T c.473A>T c.(472-474)cAc>cTc p.H158L COADREAD 3 127396605 127396605 + Frame_Shift_Del DEL C C - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr3:127396605delC c.948delC c.(946-948)ggcfs p.G316fs COADREAD 3 127396675 127396675 + Missense_Mutation SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr3:127396675G>A c.1018G>A c.(1018-1020)Gac>Aac p.D340N COADREAD 3 127398930 127398930 + Missense_Mutation SNP G G A TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr3:127398930G>A c.1132G>A c.(1132-1134)Gag>Aag p.E378K COADREAD 3 127399146 127399148 + In_Frame_Del DEL AGG AGG - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr3:127399146_127399148delAGG c.1265_1267delAGG c.(1264-1269)aaggag>aag p.E424del COADREAD 3 127399158 127399158 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr3:127399158C>T c.1277C>T c.(1276-1278)gCg>gTg p.A426V COADREAD 3 127399219 127399219 + Silent SNP C C T TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr3:127399219C>T c.1338C>T c.(1336-1338)caC>caT p.H446H ESCA 3 127396666 127396666 + Missense_Mutation SNP A A G TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 g.chr3:127396666A>G c.1009A>G c.(1009-1011)Atg>Gtg p.M337V ESCA 3 127396675 127396675 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 g.chr3:127396675G>A c.1018G>A c.(1018-1020)Gac>Aac p.D340N GBM 3 127396603 127396603 + Missense_Mutation SNP G G T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 g.chr3:127396603G>T c.946G>T c.(946-948)Ggc>Tgc p.G316C GBMLGG 3 127396603 127396603 + Missense_Mutation SNP G G T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 g.chr3:127396603G>T c.946G>T c.(946-948)Ggc>Tgc p.G316C HNSC 3 127394943 127394943 + Missense_Mutation SNP C C G TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 g.chr3:127394943C>G c.306C>G c.(304-306)gaC>gaG p.D102E HNSC 3 127395182 127395182 + Missense_Mutation SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 g.chr3:127395182C>T c.388C>T c.(388-390)Cgc>Tgc p.R130C HNSC 3 127395201 127395201 + Missense_Mutation SNP G G A TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr3:127395201G>A c.407G>A c.(406-408)cGt>cAt p.R136H HNSC 3 127395886 127395886 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 g.chr3:127395886C>T c.603C>T c.(601-603)ctC>ctT p.L201L HNSC 3 127396078 127396078 + Silent SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 g.chr3:127396078C>T c.711C>T c.(709-711)ctC>ctT p.L237L HNSC 3 127396349 127396349 + Missense_Mutation SNP C C G TCGA-CV-A45P-01A-11D-A24D-08 TCGA-CV-A45P-10A-01D-A24F-08 g.chr3:127396349C>G c.804C>G c.(802-804)ttC>ttG p.F268L HNSC 3 127396654 127396654 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 g.chr3:127396654G>A c.997G>A c.(997-999)Gtg>Atg p.V333M HNSC 3 127398902 127398902 + Silent SNP C C T TCGA-CQ-7072-01A-21D-A30E-08 TCGA-CQ-7072-10A-01D-A30H-08 g.chr3:127398902C>T c.1104C>T c.(1102-1104)tgC>tgT p.C368C HNSC 3 127399121 127399121 + Missense_Mutation SNP C C T TCGA-CV-A45V-01A-21D-A25D-08 TCGA-CV-A45V-10A-01D-A25E-08 g.chr3:127399121C>T c.1240C>T c.(1240-1242)Cgg>Tgg p.R414W HNSC 3 127399180 127399180 + Missense_Mutation SNP G G T TCGA-CV-A45W-01A-11D-A25D-08 TCGA-CV-A45W-10A-01D-A25E-08 g.chr3:127399180G>T c.1299G>T c.(1297-1299)gaG>gaT p.E433D KICH 3 127396057 127396057 + Silent SNP C C T TCGA-KM-8476-01A-11D-2310-10 TCGA-KM-8476-10A-01D-2311-10 g.chr3:127396057C>T c.690C>T c.(688-690)ccC>ccT p.P230P KIPAN 3 127395171 127395171 + Missense_Mutation SNP T T C TCGA-A3-3322-01A-01W-0886-08 TCGA-A3-3322-11A-01D-0966-08 g.chr3:127395171T>C c.377T>C c.(376-378)tTc>tCc p.F126S KIPAN 3 127396051 127396051 + Silent SNP C C A TCGA-DW-7840-01A-11D-2136-08 TCGA-DW-7840-10A-01D-2136-08 g.chr3:127396051C>A c.684C>A c.(682-684)atC>atA p.I228I KIPAN 3 127396057 127396057 + Silent SNP C C T TCGA-KM-8476-01A-11D-2310-10 TCGA-KM-8476-10A-01D-2311-10 g.chr3:127396057C>T c.690C>T c.(688-690)ccC>ccT p.P230P KIRC 3 127395171 127395171 + Missense_Mutation SNP T T C TCGA-A3-3322-01A-01W-0886-08 TCGA-A3-3322-11A-01D-0966-08 g.chr3:127395171T>C c.377T>C c.(376-378)tTc>tCc p.F126S KIRP 3 127396051 127396051 + Silent SNP C C A TCGA-DW-7840-01A-11D-2136-08 TCGA-DW-7840-10A-01D-2136-08 g.chr3:127396051C>A c.684C>A c.(682-684)atC>atA p.I228I LIHC 3 127395229 127395229 + Missense_Mutation SNP C C G TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr3:127395229C>G c.435C>G c.(433-435)gaC>gaG p.D145E LIHC 3 127398864 127398864 + Missense_Mutation SNP G G A TCGA-DD-AADY-01A-11D-A40R-10 TCGA-DD-AADY-10A-01D-A40U-10 g.chr3:127398864G>A c.1066G>A c.(1066-1068)Gcc>Acc p.A356T LUAD 3 127393268 127393268 + IGR SNP G G T TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr3:127393268G>T LUAD 3 127394816 127394816 + Missense_Mutation SNP C C G TCGA-86-8279-01A-11D-2284-08 TCGA-86-8279-10A-01D-2284-08 g.chr3:127394816C>G c.179C>G c.(178-180)gCc>gGc p.A60G LUAD 3 127395174 127395174 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 g.chr3:127395174G>A c.380G>A c.(379-381)cGg>cAg p.R127Q LUAD 3 127395254 127395254 + Missense_Mutation SNP G G A TCGA-69-7764-01A-11D-2167-08 TCGA-69-7764-10A-01D-2167-08 g.chr3:127395254G>A c.460G>A c.(460-462)Gtg>Atg p.V154M LUAD 3 127395387 127395387 + Silent SNP C C T TCGA-55-A491-01A-11D-A24D-08 TCGA-55-A491-10A-01D-A24F-08 g.chr3:127395387C>T c.489C>T c.(487-489)ccC>ccT p.P163P LUAD 3 127399219 127399219 + Missense_Mutation SNP C C G TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr3:127399219C>G c.1338C>G c.(1336-1338)caC>caG p.H446Q LUSC 3 127396373 127396373 + Silent SNP C C T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 g.chr3:127396373C>T c.828C>T c.(826-828)ttC>ttT p.F276F LUSC 3 127398972 127398972 + Missense_Mutation SNP C C T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 g.chr3:127398972C>T c.1174C>T c.(1174-1176)Cgc>Tgc p.R392C LUSC 3 127399246 127399246 + Silent SNP C C T TCGA-63-5128-01A-01D-1441-08 TCGA-63-5128-10A-01D-1441-08 g.chr3:127399246C>T c.1365C>T c.(1363-1365)agC>agT p.S455S PAAD 3 127394818 127394818 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:127394818C>T c.181C>T c.(181-183)Cgc>Tgc p.R61C PRAD 3 127395843 127395843 + Missense_Mutation SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:127395843A>G c.560A>G c.(559-561)gAc>gGc p.D187G PRAD 3 127396381 127396381 + Missense_Mutation SNP C C T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr3:127396381C>T c.836C>T c.(835-837)gCt>gTt p.A279V PRAD 3 127399141 127399141 + Silent SNP G G A TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 g.chr3:127399141G>A c.1260G>A c.(1258-1260)gcG>gcA p.A420A PRAD 3 127399182 127399182 + Missense_Mutation SNP C C T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr3:127399182C>T c.1301C>T c.(1300-1302)aCg>aTg p.T434M READ 3 127395267 127395267 + Missense_Mutation SNP A A T TCGA-AG-3726-01A-02W-0899-10 TCGA-AG-3726-10A-01W-0901-10 g.chr3:127395267A>T c.473A>T c.(472-474)cAc>cTc p.H158L SKCM 3 127395238 127395238 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr3:127395238G>A c.444G>A c.(442-444)tgG>tgA p.W148* SKCM 3 127396377 127396377 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr3:127396377G>A c.832G>A c.(832-834)Gtg>Atg p.V278M SKCM 3 127396527 127396527 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr3:127396527C>T c.870C>T c.(868-870)ttC>ttT p.F290F SKCM 3 127399303 127399303 + Silent SNP C C T TCGA-EE-A29T-06A-11D-A197-08 TCGA-EE-A29T-10A-01D-A199-08 g.chr3:127399303C>T c.1422C>T c.(1420-1422)atC>atT p.I474I

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 3 127396386 127396386 single base substitution T G 3_prime_UTR_variant BLCA-CN 3 127396386 127396386 single base substitution T G downstream_gene_variant BLCA-CN 3 127396386 127396386 single base substitution T G exon_variant BLCA-CN 3 127396386 127396386 single base substitution T G intron_variant BLCA-CN 3 127396386 127396386 single base substitution T G missense_variant C139G 415T>G BLCA-CN 3 127396386 127396386 single base substitution T G missense_variant C281G 841T>G BLCA-CN 3 127399415 127399415 single base substitution G C 3_prime_UTR_variant BLCA-CN 3 127399415 127399415 single base substitution G C downstream_gene_variant BLCA-CN 3 127399415 127399415 single base substitution G C exon_variant BLCA-US 3 127391916 127391916 single base substitution C T 5_prime_UTR_variant BLCA-US 3 127391916 127391916 single base substitution C T exon_variant BLCA-US 3 127391916 127391916 single base substitution C T synonymous_variant G16G 48C>T BLCA-US 3 127391916 127391916 single base substitution C T upstream_gene_variant BRCA-EU 3 127387332 127387332 single base substitution G C upstream_gene_variant BRCA-EU 3 127390245 127390245 single base substitution C G upstream_gene_variant BRCA-EU 3 127390514 127390514 single base substitution G A upstream_gene_variant BRCA-EU 3 127392066 127392066 single base substitution G C exon_variant BRCA-EU 3 127392066 127392066 single base substitution G C intron_variant BRCA-EU 3 127392066 127392066 single base substitution G C upstream_gene_variant BRCA-EU 3 127392291 127392291 single base substitution G A exon_variant BRCA-EU 3 127392291 127392291 single base substitution G A intron_variant BRCA-EU 3 127392291 127392291 single base substitution G A upstream_gene_variant BRCA-EU 3 127392683 127392683 single base substitution G A intron_variant BRCA-EU 3 127392683 127392683 single base substitution G A upstream_gene_variant BRCA-EU 3 127392941 127392941 single base substitution C T intron_variant BRCA-EU 3 127392941 127392941 single base substitution C T upstream_gene_variant BRCA-EU 3 127393339 127393339 single base substitution A T intron_variant BRCA-EU 3 127393339 127393339 single base substitution A T upstream_gene_variant BRCA-EU 3 127394295 127394295 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 127394295 127394295 deletion of <=200bp T - intron_variant BRCA-EU 3 127394295 127394295 deletion of <=200bp T - upstream_gene_variant BRCA-EU 3 127394818 127394818 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 3 127394818 127394818 single base substitution C T downstream_gene_variant BRCA-EU 3 127394818 127394818 single base substitution C T exon_variant BRCA-EU 3 127394818 127394818 single base substitution C T missense_variant R61C 181C>T BRCA-EU 3 127394818 127394818 single base substitution C T upstream_gene_variant BRCA-EU 3 127394836 127394836 single base substitution T A 5_prime_UTR_variant BRCA-EU 3 127394836 127394836 single base substitution T A downstream_gene_variant BRCA-EU 3 127394836 127394836 single base substitution T A exon_variant BRCA-EU 3 127394836 127394836 single base substitution T A missense_variant F67I 199T>A BRCA-EU 3 127394836 127394836 single base substitution T A upstream_gene_variant BRCA-EU 3 127396443 127396443 single base substitution G A downstream_gene_variant BRCA-EU 3 127396443 127396443 single base substitution G A exon_variant BRCA-EU 3 127396443 127396443 single base substitution G A intron_variant BRCA-EU 3 127397552 127397552 single base substitution G C downstream_gene_variant BRCA-EU 3 127397552 127397552 single base substitution G C exon_variant BRCA-EU 3 127397552 127397552 single base substitution G C intron_variant BRCA-EU 3 127398134 127398134 single base substitution C T downstream_gene_variant BRCA-EU 3 127398134 127398134 single base substitution C T exon_variant BRCA-EU 3 127398134 127398134 single base substitution C T intron_variant BRCA-EU 3 127398648 127398648 single base substitution C T downstream_gene_variant BRCA-EU 3 127398648 127398648 single base substitution C T exon_variant BRCA-EU 3 127398648 127398648 single base substitution C T intron_variant BRCA-EU 3 127398813 127398813 single base substitution C A downstream_gene_variant BRCA-EU 3 127398813 127398813 single base substitution C A exon_variant BRCA-EU 3 127398813 127398813 single base substitution C A intron_variant BRCA-EU 3 127398945 127398945 single base substitution G T 3_prime_UTR_variant BRCA-EU 3 127398945 127398945 single base substitution G T downstream_gene_variant BRCA-EU 3 127398945 127398945 single base substitution G T exon_variant BRCA-EU 3 127398945 127398945 single base substitution G T missense_variant G241C 721G>T BRCA-EU 3 127398945 127398945 single base substitution G T missense_variant G383C 1147G>T BRCA-EU 3 127399098 127399098 single base substitution C G downstream_gene_variant BRCA-EU 3 127399098 127399098 single base substitution C G intron_variant BRCA-EU 3 127399894 127399894 single base substitution C A downstream_gene_variant BRCA-EU 3 127400840 127400840 single base substitution G T downstream_gene_variant BRCA-EU 3 127401104 127401104 single base substitution C T downstream_gene_variant BRCA-EU 3 127401432 127401432 single base substitution G A downstream_gene_variant BRCA-EU 3 127402135 127402135 single base substitution C G downstream_gene_variant BRCA-EU 3 127403304 127403304 single base substitution G T downstream_gene_variant BRCA-EU 3 127404003 127404003 single base substitution G A downstream_gene_variant BRCA-FR 3 127390514 127390514 single base substitution G A upstream_gene_variant BRCA-FR 3 127392066 127392066 single base substitution G C exon_variant BRCA-FR 3 127392066 127392066 single base substitution G C intron_variant BRCA-FR 3 127392066 127392066 single base substitution G C upstream_gene_variant BRCA-FR 3 127401104 127401104 single base substitution C T downstream_gene_variant BRCA-FR 3 127402135 127402135 single base substitution C G downstream_gene_variant BRCA-UK 3 127391827 127391827 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-UK 3 127391827 127391827 single base substitution C T exon_variant BRCA-UK 3 127391827 127391827 single base substitution C T upstream_gene_variant BRCA-US 3 127395142 127395142 single base substitution C T 3_prime_UTR_variant BRCA-US 3 127395142 127395142 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 3 127395142 127395142 single base substitution C T downstream_gene_variant BRCA-US 3 127395142 127395142 single base substitution C T exon_variant BRCA-US 3 127395142 127395142 single base substitution C T synonymous_variant D116D 348C>T BRCA-US 3 127395142 127395142 single base substitution C T upstream_gene_variant BRCA-US 3 127396605 127396605 deletion of <=200bp C - 3_prime_UTR_variant BRCA-US 3 127396605 127396605 deletion of <=200bp C - downstream_gene_variant BRCA-US 3 127396605 127396605 deletion of <=200bp C - exon_variant BRCA-US 3 127396605 127396605 deletion of <=200bp C - frameshift_variant G174 BRCA-US 3 127396605 127396605 deletion of <=200bp C - frameshift_variant G316 BRCA-US 3 127396605 127396605 deletion of <=200bp C - intron_variant BTCA-JP 3 127393513 127393513 single base substitution C T downstream_gene_variant BTCA-JP 3 127393513 127393513 single base substitution C T intron_variant BTCA-JP 3 127393513 127393513 single base substitution C T upstream_gene_variant BTCA-JP 3 127394963 127394963 single base substitution C G downstream_gene_variant BTCA-JP 3 127394963 127394963 single base substitution C G exon_variant BTCA-JP 3 127394963 127394963 single base substitution C G intron_variant BTCA-JP 3 127394963 127394963 single base substitution C G splice_region_variant BTCA-JP 3 127394963 127394963 single base substitution C G upstream_gene_variant BTCA-JP 3 127394976 127394976 single base substitution G T downstream_gene_variant BTCA-JP 3 127394976 127394976 single base substitution G T exon_variant BTCA-JP 3 127394976 127394976 single base substitution G T intron_variant BTCA-JP 3 127394976 127394976 single base substitution G T upstream_gene_variant BTCA-JP 3 127396600 127396600 deletion of <=200bp G - 3_prime_UTR_variant BTCA-JP 3 127396600 127396600 deletion of <=200bp G - downstream_gene_variant BTCA-JP 3 127396600 127396600 deletion of <=200bp G - exon_variant BTCA-JP 3 127396600 127396600 deletion of <=200bp G - frameshift_variant G173 BTCA-JP 3 127396600 127396600 deletion of <=200bp G - frameshift_variant G315 BTCA-JP 3 127396600 127396600 deletion of <=200bp G - intron_variant BTCA-JP 3 127398957 127398957 single base substitution G A 3_prime_UTR_variant BTCA-JP 3 127398957 127398957 single base substitution G A downstream_gene_variant BTCA-JP 3 127398957 127398957 single base substitution G A exon_variant BTCA-JP 3 127398957 127398957 single base substitution G A missense_variant V245M 733G>A BTCA-JP 3 127398957 127398957 single base substitution G A missense_variant V387M 1159G>A BTCA-JP 3 127399271 127399271 single base substitution C T 3_prime_UTR_variant BTCA-JP 3 127399271 127399271 single base substitution C T downstream_gene_variant BTCA-JP 3 127399271 127399271 single base substitution C T exon_variant BTCA-JP 3 127399271 127399271 single base substitution C T synonymous_variant L322L 964C>T BTCA-JP 3 127399271 127399271 single base substitution C T synonymous_variant L464L 1390C>T COAD-US 3 127395140 127395140 single base substitution G A 3_prime_UTR_variant COAD-US 3 127395140 127395140 single base substitution G A 5_prime_UTR_variant COAD-US 3 127395140 127395140 single base substitution G A downstream_gene_variant COAD-US 3 127395140 127395140 single base substitution G A exon_variant COAD-US 3 127395140 127395140 single base substitution G A missense_variant D116N 346G>A COAD-US 3 127395140 127395140 single base substitution G A upstream_gene_variant COAD-US 3 127395161 127395161 single base substitution G T 3_prime_UTR_variant COAD-US 3 127395161 127395161 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant COAD-US 3 127395161 127395161 single base substitution G T downstream_gene_variant COAD-US 3 127395161 127395161 single base substitution G T exon_variant COAD-US 3 127395161 127395161 single base substitution G T missense_variant G123W 367G>T COAD-US 3 127395161 127395161 single base substitution G T upstream_gene_variant COAD-US 3 127395173 127395173 single base substitution C T 3_prime_UTR_variant COAD-US 3 127395173 127395173 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COAD-US 3 127395173 127395173 single base substitution C T downstream_gene_variant COAD-US 3 127395173 127395173 single base substitution C T exon_variant COAD-US 3 127395173 127395173 single base substitution C T missense_variant R127W 379C>T COAD-US 3 127395173 127395173 single base substitution C T upstream_gene_variant COAD-US 3 127395235 127395235 single base substitution A G 3_prime_UTR_variant COAD-US 3 127395235 127395235 single base substitution A G downstream_gene_variant COAD-US 3 127395235 127395235 single base substitution A G exon_variant COAD-US 3 127395235 127395235 single base substitution A G synonymous_variant K147K 441A>G COAD-US 3 127395235 127395235 single base substitution A G synonymous_variant K5K 15A>G COAD-US 3 127395235 127395235 single base substitution A G upstream_gene_variant COAD-US 3 127396326 127396326 single base substitution C T 3_prime_UTR_variant COAD-US 3 127396326 127396326 single base substitution C T downstream_gene_variant COAD-US 3 127396326 127396326 single base substitution C T exon_variant COAD-US 3 127396326 127396326 single base substitution C T intron_variant COAD-US 3 127396326 127396326 single base substitution C T missense_variant P119S 355C>T COAD-US 3 127396326 127396326 single base substitution C T missense_variant P261S 781C>T COAD-US 3 127396605 127396605 deletion of <=200bp C - 3_prime_UTR_variant COAD-US 3 127396605 127396605 deletion of <=200bp C - downstream_gene_variant COAD-US 3 127396605 127396605 deletion of <=200bp C - exon_variant COAD-US 3 127396605 127396605 deletion of <=200bp C - frameshift_variant G174 COAD-US 3 127396605 127396605 deletion of <=200bp C - frameshift_variant G316 COAD-US 3 127396605 127396605 deletion of <=200bp C - intron_variant COAD-US 3 127398930 127398930 single base substitution G A 3_prime_UTR_variant COAD-US 3 127398930 127398930 single base substitution G A downstream_gene_variant COAD-US 3 127398930 127398930 single base substitution G A exon_variant COAD-US 3 127398930 127398930 single base substitution G A missense_variant E236K 706G>A COAD-US 3 127398930 127398930 single base substitution G A missense_variant E378K 1132G>A COAD-US 3 127399141 127399141 single base substitution G A 3_prime_UTR_variant COAD-US 3 127399141 127399141 single base substitution G A downstream_gene_variant COAD-US 3 127399141 127399141 single base substitution G A exon_variant COAD-US 3 127399141 127399141 single base substitution G A synonymous_variant A278A 834G>A COAD-US 3 127399141 127399141 single base substitution G A synonymous_variant A420A 1260G>A COAD-US 3 127399146 127399148 deletion of <=200bp AGG - 3_prime_UTR_variant COAD-US 3 127399146 127399148 deletion of <=200bp AGG - downstream_gene_variant COAD-US 3 127399146 127399148 deletion of <=200bp AGG - exon_variant COAD-US 3 127399146 127399148 deletion of <=200bp AGG - inframe_deletion KE280K COAD-US 3 127399146 127399148 deletion of <=200bp AGG - inframe_deletion KE422K COAD-US 3 127399158 127399158 single base substitution C T 3_prime_UTR_variant COAD-US 3 127399158 127399158 single base substitution C T downstream_gene_variant COAD-US 3 127399158 127399158 single base substitution C T exon_variant COAD-US 3 127399158 127399158 single base substitution C T missense_variant A284V 851C>T COAD-US 3 127399158 127399158 single base substitution C T missense_variant A426V 1277C>T COAD-US 3 127399219 127399219 single base substitution C T 3_prime_UTR_variant COAD-US 3 127399219 127399219 single base substitution C T downstream_gene_variant COAD-US 3 127399219 127399219 single base substitution C T exon_variant COAD-US 3 127399219 127399219 single base substitution C T synonymous_variant H304H 912C>T COAD-US 3 127399219 127399219 single base substitution C T synonymous_variant H446H 1338C>T COCA-CN 3 127387937 127387937 single base substitution G A upstream_gene_variant COCA-CN 3 127393367 127393367 insertion of <=200bp - GA intron_variant COCA-CN 3 127393367 127393367 insertion of <=200bp - GA upstream_gene_variant COCA-CN 3 127395187 127395187 single base substitution C T 3_prime_UTR_variant COCA-CN 3 127395187 127395187 single base substitution C T 5_prime_UTR_variant COCA-CN 3 127395187 127395187 single base substitution C T downstream_gene_variant COCA-CN 3 127395187 127395187 single base substitution C T exon_variant COCA-CN 3 127395187 127395187 single base substitution C T synonymous_variant C131C 393C>T COCA-CN 3 127395187 127395187 single base substitution C T upstream_gene_variant COCA-CN 3 127396479 127396479 single base substitution G T downstream_gene_variant COCA-CN 3 127396479 127396479 single base substitution G T exon_variant COCA-CN 3 127396479 127396479 single base substitution G T intron_variant COCA-CN 3 127396604 127396604 single base substitution G C 3_prime_UTR_variant COCA-CN 3 127396604 127396604 single base substitution G C downstream_gene_variant COCA-CN 3 127396604 127396604 single base substitution G C exon_variant COCA-CN 3 127396604 127396604 single base substitution G C intron_variant COCA-CN 3 127396604 127396604 single base substitution G C missense_variant G174A 521G>C COCA-CN 3 127396604 127396604 single base substitution G C missense_variant G316A 947G>C COCA-CN 3 127398777 127398777 single base substitution G A downstream_gene_variant COCA-CN 3 127398777 127398777 single base substitution G A exon_variant COCA-CN 3 127398777 127398777 single base substitution G A intron_variant ESAD-UK 3 127387683 127387683 single base substitution G T upstream_gene_variant ESAD-UK 3 127390586 127390590 deletion of <=200bp AGCCT - upstream_gene_variant ESAD-UK 3 127390935 127390935 single base substitution C G upstream_gene_variant ESAD-UK 3 127395882 127395882 single base substitution T C 3_prime_UTR_variant ESAD-UK 3 127395882 127395882 single base substitution T C downstream_gene_variant ESAD-UK 3 127395882 127395882 single base substitution T C exon_variant ESAD-UK 3 127395882 127395882 single base substitution T C missense_variant L200P 599T>C ESAD-UK 3 127395882 127395882 single base substitution T C missense_variant L58P 173T>C ESAD-UK 3 127395882 127395882 single base substitution T C upstream_gene_variant ESAD-UK 3 127396117 127396117 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 127396117 127396117 single base substitution C T downstream_gene_variant ESAD-UK 3 127396117 127396117 single base substitution C T exon_variant ESAD-UK 3 127396117 127396117 single base substitution C T intron_variant ESAD-UK 3 127396117 127396117 single base substitution C T synonymous_variant P108P 324C>T ESAD-UK 3 127396117 127396117 single base substitution C T synonymous_variant P250P 750C>T ESAD-UK 3 127396434 127396434 single base substitution C A downstream_gene_variant ESAD-UK 3 127396434 127396434 single base substitution C A exon_variant ESAD-UK 3 127396434 127396434 single base substitution C A intron_variant ESAD-UK 3 127396546 127396546 single base substitution T G 3_prime_UTR_variant ESAD-UK 3 127396546 127396546 single base substitution T G downstream_gene_variant ESAD-UK 3 127396546 127396546 single base substitution T G exon_variant ESAD-UK 3 127396546 127396546 single base substitution T G intron_variant ESAD-UK 3 127396546 127396546 single base substitution T G missense_variant F155V 463T>G ESAD-UK 3 127396546 127396546 single base substitution T G missense_variant F297V 889T>G ESAD-UK 3 127396615 127396615 single base substitution G A 3_prime_UTR_variant ESAD-UK 3 127396615 127396615 single base substitution G A downstream_gene_variant ESAD-UK 3 127396615 127396615 single base substitution G A exon_variant ESAD-UK 3 127396615 127396615 single base substitution G A intron_variant ESAD-UK 3 127396615 127396615 single base substitution G A missense_variant V178I 532G>A ESAD-UK 3 127396615 127396615 single base substitution G A missense_variant V320I 958G>A ESAD-UK 3 127396941 127396941 single base substitution C T downstream_gene_variant ESAD-UK 3 127396941 127396941 single base substitution C T exon_variant ESAD-UK 3 127396941 127396941 single base substitution C T intron_variant ESAD-UK 3 127397158 127397158 single base substitution T C downstream_gene_variant ESAD-UK 3 127397158 127397158 single base substitution T C exon_variant ESAD-UK 3 127397158 127397158 single base substitution T C intron_variant ESAD-UK 3 127397596 127397596 single base substitution G A downstream_gene_variant ESAD-UK 3 127397596 127397596 single base substitution G A exon_variant ESAD-UK 3 127397596 127397596 single base substitution G A intron_variant ESAD-UK 3 127400616 127400616 single base substitution G A downstream_gene_variant ESAD-UK 3 127401104 127401104 single base substitution C T downstream_gene_variant ESAD-UK 3 127401947 127401947 deletion of <=200bp T - downstream_gene_variant ESAD-UK 3 127402909 127402909 single base substitution T C downstream_gene_variant ESCA-CN 3 127393278 127393278 single base substitution A C 5_prime_UTR_variant ESCA-CN 3 127393278 127393278 single base substitution A C exon_variant ESCA-CN 3 127393278 127393278 single base substitution A C intron_variant ESCA-CN 3 127393278 127393278 single base substitution A C missense_variant K34T 101A>C ESCA-CN 3 127393278 127393278 single base substitution A C upstream_gene_variant ESCA-CN 3 127399140 127399140 single base substitution C T 3_prime_UTR_variant ESCA-CN 3 127399140 127399140 single base substitution C T downstream_gene_variant ESCA-CN 3 127399140 127399140 single base substitution C T exon_variant ESCA-CN 3 127399140 127399140 single base substitution C T missense_variant A278V 833C>T ESCA-CN 3 127399140 127399140 single base substitution C T missense_variant A420V 1259C>T GBM-US 3 127396603 127396603 single base substitution G T 3_prime_UTR_variant GBM-US 3 127396603 127396603 single base substitution G T downstream_gene_variant GBM-US 3 127396603 127396603 single base substitution G T exon_variant GBM-US 3 127396603 127396603 single base substitution G T intron_variant GBM-US 3 127396603 127396603 single base substitution G T missense_variant G174C 520G>T GBM-US 3 127396603 127396603 single base substitution G T missense_variant G316C 946G>T KIRC-US 3 127390442 127390442 deletion of <=200bp A - upstream_gene_variant KIRP-US 3 127396051 127396051 single base substitution C A 3_prime_UTR_variant KIRP-US 3 127396051 127396051 single base substitution C A downstream_gene_variant KIRP-US 3 127396051 127396051 single base substitution C A exon_variant KIRP-US 3 127396051 127396051 single base substitution C A intron_variant KIRP-US 3 127396051 127396051 single base substitution C A synonymous_variant I228I 684C>A KIRP-US 3 127396051 127396051 single base substitution C A synonymous_variant I86I 258C>A LAML-KR 3 127399355 127399355 single base substitution C G 3_prime_UTR_variant LAML-KR 3 127399355 127399355 single base substitution C G downstream_gene_variant LAML-KR 3 127399355 127399355 single base substitution C G exon_variant LICA-FR 3 127389468 127389468 single base substitution C T upstream_gene_variant LIHM-FR 3 127387362 127387362 single base substitution C A upstream_gene_variant LINC-JP 3 127393290 127393290 deletion of <=200bp C - 5_prime_UTR_variant LINC-JP 3 127393290 127393290 deletion of <=200bp C - exon_variant LINC-JP 3 127393290 127393290 deletion of <=200bp C - frameshift_variant T38 LINC-JP 3 127393290 127393290 deletion of <=200bp C - intron_variant LINC-JP 3 127393290 127393290 deletion of <=200bp C - upstream_gene_variant LINC-JP 3 127396205 127396205 single base substitution C T downstream_gene_variant LINC-JP 3 127396205 127396205 single base substitution C T intron_variant LINC-JP 3 127403383 127403383 single base substitution A C downstream_gene_variant LIRI-JP 3 127396500 127396500 single base substitution T C downstream_gene_variant LIRI-JP 3 127396500 127396500 single base substitution T C exon_variant LIRI-JP 3 127396500 127396500 single base substitution T C intron_variant LIRI-JP 3 127396505 127396505 single base substitution C T downstream_gene_variant LIRI-JP 3 127396505 127396505 single base substitution C T exon_variant LIRI-JP 3 127396505 127396505 single base substitution C T intron_variant LIRI-JP 3 127397012 127397025 deletion of <=200bp GTTCTGGGTTCCCA - downstream_gene_variant LIRI-JP 3 127397012 127397025 deletion of <=200bp GTTCTGGGTTCCCA - exon_variant LIRI-JP 3 127397012 127397025 deletion of <=200bp GTTCTGGGTTCCCA - intron_variant LIRI-JP 3 127397354 127397354 single base substitution G A downstream_gene_variant LIRI-JP 3 127397354 127397354 single base substitution G A exon_variant LIRI-JP 3 127397354 127397354 single base substitution G A intron_variant LIRI-JP 3 127401544 127401544 single base substitution C G downstream_gene_variant LIRI-JP 3 127403155 127403155 single base substitution T C downstream_gene_variant LUSC-KR 3 127388195 127388195 single base substitution C T upstream_gene_variant LUSC-KR 3 127389634 127389634 single base substitution G T upstream_gene_variant LUSC-KR 3 127395170 127395170 single base substitution T G 3_prime_UTR_variant LUSC-KR 3 127395170 127395170 single base substitution T G 5_prime_UTR_variant LUSC-KR 3 127395170 127395170 single base substitution T G downstream_gene_variant LUSC-KR 3 127395170 127395170 single base substitution T G exon_variant LUSC-KR 3 127395170 127395170 single base substitution T G missense_variant F126V 376T>G LUSC-KR 3 127395170 127395170 single base substitution T G upstream_gene_variant LUSC-KR 3 127396220 127396220 single base substitution T C downstream_gene_variant LUSC-KR 3 127396220 127396220 single base substitution T C intron_variant LUSC-KR 3 127397888 127397888 single base substitution G T downstream_gene_variant LUSC-KR 3 127397888 127397888 single base substitution G T exon_variant LUSC-KR 3 127397888 127397888 single base substitution G T intron_variant LUSC-KR 3 127400574 127400574 single base substitution A G downstream_gene_variant LUSC-KR 3 127401588 127401588 single base substitution C G downstream_gene_variant LUSC-US 3 127387383 127387383 single base substitution C T upstream_gene_variant LUSC-US 3 127396373 127396373 single base substitution C T 3_prime_UTR_variant LUSC-US 3 127396373 127396373 single base substitution C T downstream_gene_variant LUSC-US 3 127396373 127396373 single base substitution C T exon_variant LUSC-US 3 127396373 127396373 single base substitution C T intron_variant LUSC-US 3 127396373 127396373 single base substitution C T synonymous_variant F134F 402C>T LUSC-US 3 127396373 127396373 single base substitution C T synonymous_variant F276F 828C>T LUSC-US 3 127398972 127398972 single base substitution C T 3_prime_UTR_variant LUSC-US 3 127398972 127398972 single base substitution C T downstream_gene_variant LUSC-US 3 127398972 127398972 single base substitution C T exon_variant LUSC-US 3 127398972 127398972 single base substitution C T missense_variant R250C 748C>T LUSC-US 3 127398972 127398972 single base substitution C T missense_variant R392C 1174C>T LUSC-US 3 127399246 127399246 single base substitution C T 3_prime_UTR_variant LUSC-US 3 127399246 127399246 single base substitution C T downstream_gene_variant LUSC-US 3 127399246 127399246 single base substitution C T exon_variant LUSC-US 3 127399246 127399246 single base substitution C T synonymous_variant S313S 939C>T LUSC-US 3 127399246 127399246 single base substitution C T synonymous_variant S455S 1365C>T MALY-DE 3 127400854 127400854 single base substitution G A downstream_gene_variant MALY-DE 3 127402726 127402726 single base substitution G T downstream_gene_variant MALY-DE 3 127404680 127404680 single base substitution C T downstream_gene_variant MELA-AU 3 127386889 127386889 single base substitution A T upstream_gene_variant MELA-AU 3 127386899 127386899 single base substitution C T upstream_gene_variant MELA-AU 3 127387218 127387218 single base substitution G A upstream_gene_variant MELA-AU 3 127387756 127387756 single base substitution T C upstream_gene_variant MELA-AU 3 127388045 127388045 single base substitution G A upstream_gene_variant MELA-AU 3 127388083 127388083 single base substitution A T upstream_gene_variant MELA-AU 3 127388283 127388283 single base substitution C T upstream_gene_variant MELA-AU 3 127388526 127388526 single base substitution C T upstream_gene_variant MELA-AU 3 127388648 127388648 single base substitution A C upstream_gene_variant MELA-AU 3 127390191 127390191 single base substitution C T upstream_gene_variant MELA-AU 3 127390192 127390192 single base substitution C T upstream_gene_variant MELA-AU 3 127390266 127390266 single base substitution C T upstream_gene_variant MELA-AU 3 127391674 127391674 single base substitution C T upstream_gene_variant MELA-AU 3 127392098 127392098 single base substitution G A exon_variant MELA-AU 3 127392098 127392098 single base substitution G A intron_variant MELA-AU 3 127392098 127392098 single base substitution G A upstream_gene_variant MELA-AU 3 127392748 127392748 single base substitution C T intron_variant MELA-AU 3 127392748 127392748 single base substitution C T upstream_gene_variant MELA-AU 3 127392750 127392750 single base substitution C T intron_variant MELA-AU 3 127392750 127392750 single base substitution C T upstream_gene_variant MELA-AU 3 127392860 127392860 single base substitution C T intron_variant MELA-AU 3 127392860 127392860 single base substitution C T upstream_gene_variant MELA-AU 3 127392903 127392903 single base substitution C T intron_variant MELA-AU 3 127392903 127392903 single base substitution C T upstream_gene_variant MELA-AU 3 127393225 127393225 single base substitution C T 5_prime_UTR_variant MELA-AU 3 127393225 127393225 single base substitution C T exon_variant MELA-AU 3 127393225 127393225 single base substitution C T intron_variant MELA-AU 3 127393225 127393225 single base substitution C T upstream_gene_variant MELA-AU 3 127393581 127393581 single base substitution G A downstream_gene_variant MELA-AU 3 127393581 127393581 single base substitution G A intron_variant MELA-AU 3 127393581 127393581 single base substitution G A upstream_gene_variant MELA-AU 3 127393963 127393963 single base substitution C T downstream_gene_variant MELA-AU 3 127393963 127393963 single base substitution C T intron_variant MELA-AU 3 127393963 127393963 single base substitution C T upstream_gene_variant MELA-AU 3 127394009 127394009 single base substitution C A downstream_gene_variant MELA-AU 3 127394009 127394009 single base substitution C A intron_variant MELA-AU 3 127394009 127394009 single base substitution C A upstream_gene_variant MELA-AU 3 127394113 127394113 single base substitution T C downstream_gene_variant MELA-AU 3 127394113 127394113 single base substitution T C intron_variant MELA-AU 3 127394113 127394113 single base substitution T C upstream_gene_variant MELA-AU 3 127394670 127394670 single base substitution G A downstream_gene_variant MELA-AU 3 127394670 127394670 single base substitution G A exon_variant MELA-AU 3 127394670 127394670 single base substitution G A intron_variant MELA-AU 3 127394670 127394670 single base substitution G A upstream_gene_variant MELA-AU 3 127394807 127394807 single base substitution C T downstream_gene_variant MELA-AU 3 127394807 127394807 single base substitution C T exon_variant MELA-AU 3 127394807 127394807 single base substitution C T intron_variant MELA-AU 3 127394807 127394807 single base substitution C T splice_region_variant MELA-AU 3 127394807 127394807 single base substitution C T upstream_gene_variant MELA-AU 3 127394918 127394918 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127394918 127394918 single base substitution C T 5_prime_UTR_variant MELA-AU 3 127394918 127394918 single base substitution C T downstream_gene_variant MELA-AU 3 127394918 127394918 single base substitution C T exon_variant MELA-AU 3 127394918 127394918 single base substitution C T missense_variant S94F 281C>T MELA-AU 3 127394918 127394918 single base substitution C T upstream_gene_variant MELA-AU 3 127395208 127395208 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127395208 127395208 single base substitution C T 5_prime_UTR_variant MELA-AU 3 127395208 127395208 single base substitution C T downstream_gene_variant MELA-AU 3 127395208 127395208 single base substitution C T exon_variant MELA-AU 3 127395208 127395208 single base substitution C T synonymous_variant A138A 414C>T MELA-AU 3 127395208 127395208 single base substitution C T upstream_gene_variant MELA-AU 3 127395562 127395562 single base substitution G A 3_prime_UTR_variant MELA-AU 3 127395562 127395562 single base substitution G A downstream_gene_variant MELA-AU 3 127395562 127395562 single base substitution G A exon_variant MELA-AU 3 127395562 127395562 single base substitution G A intron_variant MELA-AU 3 127395562 127395562 single base substitution G A upstream_gene_variant MELA-AU 3 127395644 127395644 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127395644 127395644 single base substitution C T downstream_gene_variant MELA-AU 3 127395644 127395644 single base substitution C T exon_variant MELA-AU 3 127395644 127395644 single base substitution C T intron_variant MELA-AU 3 127395644 127395644 single base substitution C T upstream_gene_variant MELA-AU 3 127395811 127395811 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127395811 127395811 single base substitution C T downstream_gene_variant MELA-AU 3 127395811 127395811 single base substitution C T exon_variant MELA-AU 3 127395811 127395811 single base substitution C T splice_region_variant MELA-AU 3 127395811 127395811 single base substitution C T upstream_gene_variant MELA-AU 3 127396003 127396003 single base substitution C T downstream_gene_variant MELA-AU 3 127396003 127396003 single base substitution C T exon_variant MELA-AU 3 127396003 127396003 single base substitution C T intron_variant MELA-AU 3 127396003 127396003 single base substitution C T splice_region_variant MELA-AU 3 127396003 127396003 single base substitution C T upstream_gene_variant MELA-AU 3 127396047 127396047 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127396047 127396047 single base substitution C T downstream_gene_variant MELA-AU 3 127396047 127396047 single base substitution C T exon_variant MELA-AU 3 127396047 127396047 single base substitution C T intron_variant MELA-AU 3 127396047 127396047 single base substitution C T missense_variant T227I 680C>T MELA-AU 3 127396047 127396047 single base substitution C T missense_variant T85I 254C>T MELA-AU 3 127396985 127396985 single base substitution C T downstream_gene_variant MELA-AU 3 127396985 127396985 single base substitution C T exon_variant MELA-AU 3 127396985 127396985 single base substitution C T intron_variant MELA-AU 3 127397010 127397010 single base substitution G A downstream_gene_variant MELA-AU 3 127397010 127397010 single base substitution G A exon_variant MELA-AU 3 127397010 127397010 single base substitution G A intron_variant MELA-AU 3 127397382 127397382 single base substitution C T downstream_gene_variant MELA-AU 3 127397382 127397382 single base substitution C T exon_variant MELA-AU 3 127397382 127397382 single base substitution C T intron_variant MELA-AU 3 127397417 127397417 single base substitution A G downstream_gene_variant MELA-AU 3 127397417 127397417 single base substitution A G exon_variant MELA-AU 3 127397417 127397417 single base substitution A G intron_variant MELA-AU 3 127397514 127397514 single base substitution C T downstream_gene_variant MELA-AU 3 127397514 127397514 single base substitution C T exon_variant MELA-AU 3 127397514 127397514 single base substitution C T intron_variant MELA-AU 3 127397651 127397651 single base substitution C T downstream_gene_variant MELA-AU 3 127397651 127397651 single base substitution C T exon_variant MELA-AU 3 127397651 127397651 single base substitution C T intron_variant MELA-AU 3 127397666 127397666 single base substitution C T downstream_gene_variant MELA-AU 3 127397666 127397666 single base substitution C T exon_variant MELA-AU 3 127397666 127397666 single base substitution C T intron_variant MELA-AU 3 127397777 127397777 single base substitution T G downstream_gene_variant MELA-AU 3 127397777 127397777 single base substitution T G exon_variant MELA-AU 3 127397777 127397777 single base substitution T G intron_variant MELA-AU 3 127397855 127397855 single base substitution C T downstream_gene_variant MELA-AU 3 127397855 127397855 single base substitution C T exon_variant MELA-AU 3 127397855 127397855 single base substitution C T intron_variant MELA-AU 3 127397940 127397940 single base substitution C T downstream_gene_variant MELA-AU 3 127397940 127397940 single base substitution C T exon_variant MELA-AU 3 127397940 127397940 single base substitution C T intron_variant MELA-AU 3 127398555 127398555 single base substitution C T downstream_gene_variant MELA-AU 3 127398555 127398555 single base substitution C T exon_variant MELA-AU 3 127398555 127398555 single base substitution C T intron_variant MELA-AU 3 127398710 127398710 single base substitution C T downstream_gene_variant MELA-AU 3 127398710 127398710 single base substitution C T exon_variant MELA-AU 3 127398710 127398710 single base substitution C T intron_variant MELA-AU 3 127398833 127398833 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127398833 127398833 single base substitution C T downstream_gene_variant MELA-AU 3 127398833 127398833 single base substitution C T exon_variant MELA-AU 3 127398833 127398833 single base substitution C T synonymous_variant S203S 609C>T MELA-AU 3 127398833 127398833 single base substitution C T synonymous_variant S345S 1035C>T MELA-AU 3 127398905 127398906 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 3 127398905 127398906 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 127398905 127398906 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 3 127398905 127398906 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant GR227GC MELA-AU 3 127398905 127398906 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant GR369GC MELA-AU 3 127399173 127399173 single base substitution G A 3_prime_UTR_variant MELA-AU 3 127399173 127399173 single base substitution G A downstream_gene_variant MELA-AU 3 127399173 127399173 single base substitution G A exon_variant MELA-AU 3 127399173 127399173 single base substitution G A missense_variant R289Q 866G>A MELA-AU 3 127399173 127399173 single base substitution G A missense_variant R431Q 1292G>A MELA-AU 3 127399216 127399216 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127399216 127399216 single base substitution C T downstream_gene_variant MELA-AU 3 127399216 127399216 single base substitution C T exon_variant MELA-AU 3 127399216 127399216 single base substitution C T synonymous_variant F303F 909C>T MELA-AU 3 127399216 127399216 single base substitution C T synonymous_variant F445F 1335C>T MELA-AU 3 127399299 127399299 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127399299 127399299 single base substitution C T downstream_gene_variant MELA-AU 3 127399299 127399299 single base substitution C T exon_variant MELA-AU 3 127399299 127399299 single base substitution C T missense_variant S331F 992C>T MELA-AU 3 127399299 127399299 single base substitution C T missense_variant S473F 1418C>T MELA-AU 3 127399479 127399479 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127399479 127399479 single base substitution C T downstream_gene_variant MELA-AU 3 127399479 127399479 single base substitution C T exon_variant MELA-AU 3 127399509 127399509 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127399509 127399509 single base substitution C T downstream_gene_variant MELA-AU 3 127399509 127399509 single base substitution C T exon_variant MELA-AU 3 127399534 127399534 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127399534 127399534 single base substitution C T downstream_gene_variant MELA-AU 3 127399534 127399534 single base substitution C T exon_variant MELA-AU 3 127399605 127399605 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127399605 127399605 single base substitution C T downstream_gene_variant MELA-AU 3 127399605 127399605 single base substitution C T exon_variant MELA-AU 3 127399655 127399655 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127399655 127399655 single base substitution C T downstream_gene_variant MELA-AU 3 127399655 127399655 single base substitution C T exon_variant MELA-AU 3 127399695 127399695 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127399695 127399695 single base substitution C T downstream_gene_variant MELA-AU 3 127399695 127399695 single base substitution C T exon_variant MELA-AU 3 127400768 127400768 single base substitution G A downstream_gene_variant MELA-AU 3 127400909 127400909 single base substitution C T downstream_gene_variant MELA-AU 3 127401284 127401284 single base substitution C T downstream_gene_variant MELA-AU 3 127401632 127401632 single base substitution G A downstream_gene_variant MELA-AU 3 127401650 127401650 single base substitution C T downstream_gene_variant MELA-AU 3 127401891 127401891 single base substitution C T downstream_gene_variant MELA-AU 3 127401993 127401993 single base substitution G T downstream_gene_variant MELA-AU 3 127402035 127402035 single base substitution G A downstream_gene_variant MELA-AU 3 127402218 127402218 single base substitution A T downstream_gene_variant MELA-AU 3 127402226 127402226 single base substitution T A downstream_gene_variant MELA-AU 3 127402228 127402228 single base substitution A T downstream_gene_variant MELA-AU 3 127402412 127402412 single base substitution C T downstream_gene_variant MELA-AU 3 127403208 127403208 single base substitution C T downstream_gene_variant MELA-AU 3 127403767 127403767 single base substitution G A downstream_gene_variant MELA-AU 3 127403875 127403876 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 3 127403990 127403990 single base substitution C T downstream_gene_variant MELA-AU 3 127404064 127404064 single base substitution G A downstream_gene_variant MELA-AU 3 127404296 127404296 single base substitution T C downstream_gene_variant MELA-AU 3 127404715 127404715 single base substitution C T downstream_gene_variant ORCA-IN 3 127395254 127395254 single base substitution G C 3_prime_UTR_variant ORCA-IN 3 127395254 127395254 single base substitution G C downstream_gene_variant ORCA-IN 3 127395254 127395254 single base substitution G C exon_variant ORCA-IN 3 127395254 127395254 single base substitution G C missense_variant V12L 34G>C ORCA-IN 3 127395254 127395254 single base substitution G C missense_variant V154L 460G>C ORCA-IN 3 127395254 127395254 single base substitution G C upstream_gene_variant ORCA-IN 3 127395451 127395451 single base substitution G T 3_prime_UTR_variant ORCA-IN 3 127395451 127395451 single base substitution G T downstream_gene_variant ORCA-IN 3 127395451 127395451 single base substitution G T exon_variant ORCA-IN 3 127395451 127395451 single base substitution G T intron_variant ORCA-IN 3 127395451 127395451 single base substitution G T upstream_gene_variant ORCA-IN 3 127395772 127395772 single base substitution G C 3_prime_UTR_variant ORCA-IN 3 127395772 127395772 single base substitution G C downstream_gene_variant ORCA-IN 3 127395772 127395772 single base substitution G C exon_variant ORCA-IN 3 127395772 127395772 single base substitution G C intron_variant ORCA-IN 3 127395772 127395772 single base substitution G C upstream_gene_variant ORCA-IN 3 127404399 127404399 single base substitution C T downstream_gene_variant OV-AU 3 127394348 127394348 single base substitution C T downstream_gene_variant OV-AU 3 127394348 127394348 single base substitution C T exon_variant OV-AU 3 127394348 127394348 single base substitution C T intron_variant OV-AU 3 127394348 127394348 single base substitution C T upstream_gene_variant OV-AU 3 127394745 127394745 single base substitution A T downstream_gene_variant OV-AU 3 127394745 127394745 single base substitution A T exon_variant OV-AU 3 127394745 127394745 single base substitution A T intron_variant OV-AU 3 127394745 127394745 single base substitution A T upstream_gene_variant OV-AU 3 127397116 127397116 single base substitution G A downstream_gene_variant OV-AU 3 127397116 127397116 single base substitution G A exon_variant OV-AU 3 127397116 127397116 single base substitution G A intron_variant OV-AU 3 127399509 127399509 single base substitution C T 3_prime_UTR_variant OV-AU 3 127399509 127399509 single base substitution C T downstream_gene_variant OV-AU 3 127399509 127399509 single base substitution C T exon_variant PACA-AU 3 127390954 127390954 single base substitution G C upstream_gene_variant PACA-AU 3 127402233 127402233 insertion of <=200bp - TTTA downstream_gene_variant PACA-CA 3 127390199 127390199 single base substitution G T upstream_gene_variant PACA-CA 3 127393496 127393496 single base substitution G A downstream_gene_variant PACA-CA 3 127393496 127393496 single base substitution G A intron_variant PACA-CA 3 127393496 127393496 single base substitution G A upstream_gene_variant PACA-CA 3 127396949 127396949 single base substitution C G downstream_gene_variant PACA-CA 3 127396949 127396949 single base substitution C G exon_variant PACA-CA 3 127396949 127396949 single base substitution C G intron_variant PACA-CA 3 127398956 127398956 single base substitution C T 3_prime_UTR_variant PACA-CA 3 127398956 127398956 single base substitution C T downstream_gene_variant PACA-CA 3 127398956 127398956 single base substitution C T exon_variant PACA-CA 3 127398956 127398956 single base substitution C T synonymous_variant R244R 732C>T PACA-CA 3 127398956 127398956 single base substitution C T synonymous_variant R386R 1158C>T PACA-CA 3 127403242 127403243 deletion of <=200bp AG - downstream_gene_variant PACA-CA 3 127404197 127404197 single base substitution T G downstream_gene_variant PAEN-IT 3 127392855 127392855 single base substitution G A intron_variant PAEN-IT 3 127392855 127392855 single base substitution G A upstream_gene_variant PBCA-DE 3 127390483 127390483 single base substitution G A upstream_gene_variant PBCA-DE 3 127394957 127394957 single base substitution G T downstream_gene_variant PBCA-DE 3 127394957 127394957 single base substitution G T exon_variant PBCA-DE 3 127394957 127394957 single base substitution G T missense_variant R107L 320G>T PBCA-DE 3 127394957 127394957 single base substitution G T splice_region_variant PBCA-DE 3 127394957 127394957 single base substitution G T upstream_gene_variant PRAD-CA 3 127394631 127394631 single base substitution G C downstream_gene_variant PRAD-CA 3 127394631 127394631 single base substitution G C exon_variant PRAD-CA 3 127394631 127394631 single base substitution G C intron_variant PRAD-CA 3 127394631 127394631 single base substitution G C upstream_gene_variant PRAD-UK 3 127389769 127389769 deletion of <=200bp C - upstream_gene_variant PRAD-UK 3 127393195 127393195 single base substitution A G 5_prime_UTR_variant PRAD-UK 3 127393195 127393195 single base substitution A G exon_variant PRAD-UK 3 127393195 127393195 single base substitution A G intron_variant PRAD-UK 3 127393195 127393195 single base substitution A G upstream_gene_variant PRAD-US 3 127396381 127396381 single base substitution C T 3_prime_UTR_variant PRAD-US 3 127396381 127396381 single base substitution C T downstream_gene_variant PRAD-US 3 127396381 127396381 single base substitution C T exon_variant PRAD-US 3 127396381 127396381 single base substitution C T intron_variant PRAD-US 3 127396381 127396381 single base substitution C T missense_variant A137V 410C>T PRAD-US 3 127396381 127396381 single base substitution C T missense_variant A279V 836C>T PRAD-US 3 127399141 127399141 single base substitution G A 3_prime_UTR_variant PRAD-US 3 127399141 127399141 single base substitution G A downstream_gene_variant PRAD-US 3 127399141 127399141 single base substitution G A exon_variant PRAD-US 3 127399141 127399141 single base substitution G A synonymous_variant A278A 834G>A PRAD-US 3 127399141 127399141 single base substitution G A synonymous_variant A420A 1260G>A PRAD-US 3 127399182 127399182 single base substitution C T 3_prime_UTR_variant PRAD-US 3 127399182 127399182 single base substitution C T downstream_gene_variant PRAD-US 3 127399182 127399182 single base substitution C T exon_variant PRAD-US 3 127399182 127399182 single base substitution C T missense_variant T292M 875C>T PRAD-US 3 127399182 127399182 single base substitution C T missense_variant T434M 1301C>T RECA-EU 3 127397297 127397297 single base substitution C T downstream_gene_variant RECA-EU 3 127397297 127397297 single base substitution C T exon_variant RECA-EU 3 127397297 127397297 single base substitution C T intron_variant SKCA-BR 3 127394516 127394516 single base substitution C T downstream_gene_variant SKCA-BR 3 127394516 127394516 single base substitution C T exon_variant SKCA-BR 3 127394516 127394516 single base substitution C T intron_variant SKCA-BR 3 127394516 127394516 single base substitution C T upstream_gene_variant SKCA-BR 3 127398863 127398863 single base substitution C T 3_prime_UTR_variant SKCA-BR 3 127398863 127398863 single base substitution C T downstream_gene_variant SKCA-BR 3 127398863 127398863 single base substitution C T exon_variant SKCA-BR 3 127398863 127398863 single base substitution C T synonymous_variant V213V 639C>T SKCA-BR 3 127398863 127398863 single base substitution C T synonymous_variant V355V 1065C>T SKCA-BR 3 127400579 127400579 insertion of <=200bp - TG downstream_gene_variant SKCA-BR 3 127403123 127403123 single base substitution C T downstream_gene_variant SKCM-US 3 127393292 127393292 single base substitution C T 5_prime_UTR_variant SKCM-US 3 127393292 127393292 single base substitution C T exon_variant SKCM-US 3 127393292 127393292 single base substitution C T intron_variant SKCM-US 3 127393292 127393292 single base substitution C T missense_variant P39S 115C>T SKCM-US 3 127393292 127393292 single base substitution C T upstream_gene_variant SKCM-US 3 127396078 127396078 single base substitution C T 3_prime_UTR_variant SKCM-US 3 127396078 127396078 single base substitution C T downstream_gene_variant SKCM-US 3 127396078 127396078 single base substitution C T exon_variant SKCM-US 3 127396078 127396078 single base substitution C T intron_variant SKCM-US 3 127396078 127396078 single base substitution C T synonymous_variant L237L 711C>T SKCM-US 3 127396078 127396078 single base substitution C T synonymous_variant L95L 285C>T SKCM-US 3 127396377 127396377 single base substitution G A 3_prime_UTR_variant SKCM-US 3 127396377 127396377 single base substitution G A downstream_gene_variant SKCM-US 3 127396377 127396377 single base substitution G A exon_variant SKCM-US 3 127396377 127396377 single base substitution G A intron_variant SKCM-US 3 127396377 127396377 single base substitution G A missense_variant V136M 406G>A SKCM-US 3 127396377 127396377 single base substitution G A missense_variant V278M 832G>A SKCM-US 3 127396527 127396527 single base substitution C T 3_prime_UTR_variant SKCM-US 3 127396527 127396527 single base substitution C T downstream_gene_variant SKCM-US 3 127396527 127396527 single base substitution C T exon_variant SKCM-US 3 127396527 127396527 single base substitution C T intron_variant SKCM-US 3 127396527 127396527 single base substitution C T synonymous_variant F148F 444C>T SKCM-US 3 127396527 127396527 single base substitution C T synonymous_variant F290F 870C>T STAD-US 3 127390358 127390358 single base substitution G A upstream_gene_variant STAD-US 3 127394896 127394896 single base substitution G A 3_prime_UTR_variant STAD-US 3 127394896 127394896 single base substitution G A 5_prime_UTR_variant STAD-US 3 127394896 127394896 single base substitution G A downstream_gene_variant STAD-US 3 127394896 127394896 single base substitution G A exon_variant STAD-US 3 127394896 127394896 single base substitution G A missense_variant D87N 259G>A STAD-US 3 127394896 127394896 single base substitution G A upstream_gene_variant STAD-US 3 127395216 127395216 single base substitution C T 3_prime_UTR_variant STAD-US 3 127395216 127395216 single base substitution C T 5_prime_UTR_variant STAD-US 3 127395216 127395216 single base substitution C T downstream_gene_variant STAD-US 3 127395216 127395216 single base substitution C T exon_variant STAD-US 3 127395216 127395216 single base substitution C T missense_variant A141V 422C>T STAD-US 3 127395216 127395216 single base substitution C T upstream_gene_variant STAD-US 3 127395250 127395250 single base substitution T C 3_prime_UTR_variant STAD-US 3 127395250 127395250 single base substitution T C downstream_gene_variant STAD-US 3 127395250 127395250 single base substitution T C exon_variant STAD-US 3 127395250 127395250 single base substitution T C synonymous_variant S10S 30T>C STAD-US 3 127395250 127395250 single base substitution T C synonymous_variant S152S 456T>C STAD-US 3 127395250 127395250 single base substitution T C upstream_gene_variant STAD-US 3 127396115 127396115 deletion of <=200bp C - 3_prime_UTR_variant STAD-US 3 127396115 127396115 deletion of <=200bp C - downstream_gene_variant STAD-US 3 127396115 127396115 deletion of <=200bp C - exon_variant STAD-US 3 127396115 127396115 deletion of <=200bp C - frameshift_variant P108 STAD-US 3 127396115 127396115 deletion of <=200bp C - frameshift_variant P250 STAD-US 3 127396115 127396115 deletion of <=200bp C - intron_variant STAD-US 3 127396374 127396374 single base substitution C T 3_prime_UTR_variant STAD-US 3 127396374 127396374 single base substitution C T downstream_gene_variant STAD-US 3 127396374 127396374 single base substitution C T exon_variant STAD-US 3 127396374 127396374 single base substitution C T intron_variant STAD-US 3 127396374 127396374 single base substitution C T stop_gained R135* 403C>T STAD-US 3 127396374 127396374 single base substitution C T stop_gained R277* 829C>T STAD-US 3 127396615 127396615 single base substitution G A 3_prime_UTR_variant STAD-US 3 127396615 127396615 single base substitution G A downstream_gene_variant STAD-US 3 127396615 127396615 single base substitution G A exon_variant STAD-US 3 127396615 127396615 single base substitution G A intron_variant STAD-US 3 127396615 127396615 single base substitution G A missense_variant V178I 532G>A STAD-US 3 127396615 127396615 single base substitution G A missense_variant V320I 958G>A STAD-US 3 127396654 127396654 single base substitution G A 3_prime_UTR_variant STAD-US 3 127396654 127396654 single base substitution G A downstream_gene_variant STAD-US 3 127396654 127396654 single base substitution G A exon_variant STAD-US 3 127396654 127396654 single base substitution G A missense_variant V191M 571G>A STAD-US 3 127396654 127396654 single base substitution G A missense_variant V333M 997G>A STAD-US 3 127399132 127399132 single base substitution C T 3_prime_UTR_variant STAD-US 3 127399132 127399132 single base substitution C T downstream_gene_variant STAD-US 3 127399132 127399132 single base substitution C T exon_variant STAD-US 3 127399132 127399132 single base substitution C T synonymous_variant F275F 825C>T STAD-US 3 127399132 127399132 single base substitution C T synonymous_variant F417F 1251C>T STAD-US 3 127399266 127399266 single base substitution A G 3_prime_UTR_variant STAD-US 3 127399266 127399266 single base substitution A G downstream_gene_variant STAD-US 3 127399266 127399266 single base substitution A G exon_variant STAD-US 3 127399266 127399266 single base substitution A G missense_variant Q320R 959A>G STAD-US 3 127399266 127399266 single base substitution A G missense_variant Q462R 1385A>G UCEC-US 3 127390312 127390312 single base substitution C T upstream_gene_variant UCEC-US 3 127390412 127390412 single base substitution C T upstream_gene_variant UCEC-US 3 127390454 127390454 single base substitution G A upstream_gene_variant UCEC-US 3 127395167 127395167 single base substitution C T 3_prime_UTR_variant UCEC-US 3 127395167 127395167 single base substitution C T 5_prime_UTR_variant UCEC-US 3 127395167 127395167 single base substitution C T downstream_gene_variant UCEC-US 3 127395167 127395167 single base substitution C T exon_variant UCEC-US 3 127395167 127395167 single base substitution C T missense_variant P125S 373C>T UCEC-US 3 127395167 127395167 single base substitution C T upstream_gene_variant UCEC-US 3 127395254 127395254 single base substitution G A 3_prime_UTR_variant UCEC-US 3 127395254 127395254 single base substitution G A downstream_gene_variant UCEC-US 3 127395254 127395254 single base substitution G A exon_variant UCEC-US 3 127395254 127395254 single base substitution G A missense_variant V12M 34G>A UCEC-US 3 127395254 127395254 single base substitution G A missense_variant V154M 460G>A UCEC-US 3 127395254 127395254 single base substitution G A upstream_gene_variant UCEC-US 3 127396128 127396128 single base substitution G A downstream_gene_variant UCEC-US 3 127396128 127396128 single base substitution G A intron_variant UCEC-US 3 127396128 127396128 single base substitution G A missense_variant R112Q 335G>A UCEC-US 3 127396128 127396128 single base substitution G A missense_variant R254Q 761G>A UCEC-US 3 127396128 127396128 single base substitution G A splice_region_variant UCEC-US 3 127398982 127398982 single base substitution G A 3_prime_UTR_variant UCEC-US 3 127398982 127398982 single base substitution G A downstream_gene_variant UCEC-US 3 127398982 127398982 single base substitution G A exon_variant UCEC-US 3 127398982 127398982 single base substitution G A missense_variant R253Q 758G>A UCEC-US 3 127398982 127398982 single base substitution G A missense_variant R395Q 1184G>A UCEC-US 3 127399619 127399619 single base substitution C A 3_prime_UTR_variant UCEC-US 3 127399619 127399619 single base substitution C A downstream_gene_variant UCEC-US 3 127399619 127399619 single base substitution C A exon_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-G4-6628-01 COSM1418726 c.948delC p.P318fs*36 Deletion - Frameshift 3:127677762-127677762 + PTC-7C COSM4157234 c.183C>T p.R61R Substitution - coding silent 3:127675977-127675977 + Gp5D COSM4629176 c.78C>T p.D26D Substitution - coding silent 3:127674412-127674412 + TCGA-BR-8361-01 COSM4113211 c.958G>A p.V320I Substitution - Missense 3:127677772-127677772 + KM12 COSM1670541 c.1324G>A p.D442N Substitution - Missense 3:127680362-127680362 + MO_1012 COSM4444045 c.1183C>T p.R395W Substitution - Missense 3:127680138-127680138 + TCGA-EB-A431-01 COSM3587032 c.115C>T p.P39S Substitution - Missense 3:127674449-127674449 + TCGA-EE-A181-06 COSM3587034 c.832G>A p.V278M Substitution - Missense 3:127677534-127677534 + 12-P2194 COSM4583903 c.576C>G p.A192A Substitution - coding silent 3:127677016-127677016 + TCGA-BR-4184-01 COSM4113210 c.829C>T p.R277* Substitution - Nonsense 3:127677531-127677531 + 2492729 COSM5729974 c.57G>A p.R19R Substitution - coding silent 3:127674391-127674391 + ESCC-009T COSM3940267 c.101A>C p.K34T Substitution - Missense 3:127674435-127674435 + TCGA-AG-3726-01 COSM288180 c.473A>T p.H158L Substitution - Missense 3:127676424-127676424 + ESO-0176 COSM1244047 c.1068C>T p.A356A Substitution - coding silent 3:127680023-127680023 + Pat_06_A COSM5863423 c.112_113insC p.Y41fs*30 Insertion - Frameshift 3:127674446-127674447 + RKO COSM1318727 c.747_748insC p.E252fs*5 Insertion - Frameshift 3:127677271-127677272 + T3118 COSM4658630 c.943delG p.G316fs*38 Deletion - Frameshift 3:127677757-127677757 + 587260 COSM1181467 c.349G>A p.V117M Substitution - Missense 3:127676300-127676300 + BD175T COSM5507750 c.1390C>T p.L464L Substitution - coding silent 3:127680428-127680428 + MD-317 COSM301614 c.320G>T p.R107L Substitution - Missense 3:127676114-127676114 + TCGA-D8-A1Y1-01 COSM1418726 c.948delC p.P318fs*36 Deletion - Frameshift 3:127677762-127677762 + TCGA-GN-A26C-01 COSM3587033 c.711C>T p.L237L Substitution - coding silent 3:127677235-127677235 + TCGA-AD-6964-01 COSM3695685 c.781C>T p.P261S Substitution - Missense 3:127677483-127677483 + BD173T COSM5505823 c.320+6C>G p.? Unknown 3:127676120-127676120 + PD5946a COSM3059290 c.181C>T p.R61C Substitution - Missense 3:127675975-127675975 + TCGA-KK-A59V-01 COSM4878664 c.1301C>T p.T434M Substitution - Missense 3:127680339-127680339 + TCGA-BR-6452-01 COSM4113209 c.456T>C p.S152S Substitution - coding silent 3:127676407-127676407 + TCGA-06-2562 COSM2152770 c.946G>T p.G316C Substitution - Missense 3:127677760-127677760 + TCGA-DS-A1OC-01 COSM1294085 c.346G>A p.D116N Substitution - Missense 3:127676297-127676297 + TCGA-AB-2942-03 COSM1318727 c.747_748insC p.E252fs*5 Insertion - Frameshift 3:127677271-127677272 + ICGC_MB125 COSM301614 c.320G>T p.R107L Substitution - Missense 3:127676114-127676114 + T3225 COSM3059308 c.1038C>T p.P346P Substitution - coding silent 3:127679993-127679993 + TCGA-AB-2804-03 COSM1318727 c.747_748insC p.E252fs*5 Insertion - Frameshift 3:127677271-127677272 + TCGA-D9-A4Z3-01 COSM3587035 c.870C>T p.F290F Substitution - coding silent 3:127677684-127677684 + sysucc-880T COSM5463201 c.393C>T p.C131C Substitution - coding silent 3:127676344-127676344 + C086 COSM5526117 c.1036C>T p.P346S Substitution - Missense 3:127679991-127679991 + PD7215a COSM5788888 c.199T>A p.F67I Substitution - Missense 3:127675993-127675993 + WA56 COSM238652 c.106G>A p.D36N Substitution - Missense 3:127674440-127674440 + TCGA-D1-A103-01 COSM1037933 c.373C>T p.P125S Substitution - Missense 3:127676324-127676324 + ccRCC-52 COSM1660357 c.409A>T p.S137C Substitution - Missense 3:127676360-127676360 + KM12 COSM1670541 c.1324G>A p.D442N Substitution - Missense 3:127680362-127680362 + B81-Tumor COSM4005249 c.841T>G p.C281G Substitution - Missense 3:127677543-127677543 + Au1 COSM5596197 c.691C>T p.P231S Substitution - Missense 3:127677215-127677215 + TCGA-GV-A3QI-01 COSM1308531 c.48C>T p.G16G Substitution - coding silent 3:127673073-127673073 + HX13T COSM1616853 c.113delC p.L40fs*38 Deletion - Frameshift 3:127674447-127674447 + TCGA-KK-A6E4-01 COSM3695799 c.1260G>A p.A420A Substitution - coding silent 3:127680298-127680298 + sysucc-1370T COSM5471664 c.947G>C p.G316A Substitution - Missense 3:127677761-127677761 + TCGA-A6-5660-01 COSM1418727 c.1132G>A p.E378K Substitution - Missense 3:127680087-127680087 + TCGA-AZ-4615-01 COSM3695799 c.1260G>A p.A420A Substitution - coding silent 3:127680298-127680298 + TCGA-63-5128-01 COSM727614 c.1365C>T p.S455S Substitution - coding silent 3:127680403-127680403 + T578 COSM3059300 c.663G>A p.T221T Substitution - coding silent 3:127677187-127677187 + 587220 COSM1181468 c.1393C>T p.R465W Substitution - Missense 3:127680431-127680431 + TCGA-D1-A167-01 COSM1037936 c.1184G>A p.R395Q Substitution - Missense 3:127680139-127680139 + 587392 COSM1181469 c.1148G>T p.G383V Substitution - Missense 3:127680103-127680103 + I2L-P19Tb-Tumor-Organoid COSM5355350 c.459C>T p.V153V Substitution - coding silent 3:127676410-127676410 + TCGA-HU-A4GQ-01 COSM4113207 c.259G>A p.D87N Substitution - Missense 3:127676053-127676053 + Au3 COSM5600968 c.917G>A p.R306Q Substitution - Missense 3:127677731-127677731 + TCGA-BS-A0TG-01 COSM1037935 c.761G>A p.R254Q Substitution - Missense 3:127677285-127677285 + TCGA-AD-6895-01 COSM1294085 c.346G>A p.D116N Substitution - Missense 3:127676297-127676297 + OSCC-GB_01060111 COSM4882515 c.460G>C p.V154L Substitution - Missense 3:127676411-127676411 + LOVO COSM1418726 c.948delC p.P318fs*36 Deletion - Frameshift 3:127677762-127677762 + CSCC-10-T COSM4519074 c.949_950CC>TT p.P317F Substitution - Missense 3:127677763-127677764 + TCGA-BR-4368-01 COSM4113212 c.997G>A p.V333M Substitution - Missense 3:127677811-127677811 + TCGA-BR-A4QL-01 COSM4113214 c.1385A>G p.Q462R Substitution - Missense 3:127680423-127680423 + ESCC_22 COSM5626380 c.1065C>T p.V355V Substitution - coding silent 3:127680020-127680020 + TCGA-CM-4743-01 COSM1418730 c.1338C>T p.H446H Substitution - coding silent 3:127680376-127680376 + HCT15 COSM4632913 c.887A>G p.Y296C Substitution - Missense 3:127677701-127677701 + C709 COSM4444045 c.1183C>T p.R395W Substitution - Missense 3:127680138-127680138 + TCGA-KK-A59V-01 COSM4878550 c.836C>T p.A279V Substitution - Missense 3:127677538-127677538 + CCK81 COSM1418726 c.948delC p.P318fs*36 Deletion - Frameshift 3:127677762-127677762 + TCGA-HU-A4GT-01 COSM4113208 c.422C>T p.A141V Substitution - Missense 3:127676373-127676373 + TCGA-66-2777-01 COSM727615 c.1174C>T p.R392C Substitution - Missense 3:127680129-127680129 + TCGA-DW-7840-01 COSM3992707 c.684C>A p.I228I Substitution - coding silent 3:127677208-127677208 + Pat_63_A COSM5863424 c.647C>T p.A216V Substitution - Missense 3:127677171-127677171 + TCGA-D8-A1Y1-01 COSM1484565 c.348C>T p.D116D Substitution - coding silent 3:127676299-127676299 + PCSI_0090_Pa_X COSM1484566 c.1158C>T p.R386R Substitution - coding silent 3:127680113-127680113 + SM-4B296 COSM4410395 c.889T>G p.F297V Substitution - Missense 3:127677703-127677703 + TCGA-AZ-6601-01 COSM1418729 c.1277C>T p.A426V Substitution - Missense 3:127680315-127680315 + MN-1132 COSM1578890 c.902T>C p.L301P Substitution - Missense 3:127677716-127677716 + TCGA-56-6546-01 COSM727616 c.828C>T p.F276F Substitution - coding silent 3:127677530-127677530 + TCGA-AZ-4615-01 COSM3695798 c.441A>G p.K147K Substitution - coding silent 3:127676392-127676392 + I2L-P19Tb-Tumor-Biopsy COSM5355350 c.459C>T p.V153V Substitution - coding silent 3:127676410-127676410 + OV207 COSM252315 c.1155G>A p.W385* Substitution - Nonsense 3:127680110-127680110 + S02376 COSM5697125 c.970G>T p.G324C Substitution - Missense 3:127677784-127677784 + PCSI_0090_Pa_P COSM1484566 c.1158C>T p.R386R Substitution - coding silent 3:127680113-127680113 + TCGA-G4-6302-01 COSM3695797 c.379C>T p.R127W Substitution - Missense 3:127676330-127676330 + 19 COSM5746178 c.908A>G p.D303G Substitution - Missense 3:127677722-127677722 + BD124T COSM4658630 c.943delG p.G316fs*38 Deletion - Frameshift 3:127677757-127677757 + Pat_16_B COSM3059309 c.1063G>A p.V355I Substitution - Missense 3:127680018-127680018 + T3535 COSM4658629 c.94C>T p.R32W Substitution - Missense 3:127674428-127674428 + PD9591a COSM5794120 c.1147G>T p.G383C Substitution - Missense 3:127680102-127680102 + KM12 COSM4639150 c.1423G>A p.G475S Substitution - Missense 3:127680461-127680461 + TCGA-AP-A0LM-01 COSM1037934 c.460G>A p.V154M Substitution - Missense 3:127676411-127676411 + TCGA-06-2562-01 COSM2152770 c.946G>T p.G316C Substitution - Missense 3:127677760-127677760 + 61 COSM5736743 c.124T>C p.Y42H Substitution - Missense 3:127674549-127674549 + BD6T COSM5498861 c.1159G>A p.V387M Substitution - Missense 3:127680114-127680114 + TCGA-A6-6653-01 COSM1418728 c.1265_1267delAGG p.E424delE Deletion - In frame 3:127680303-127680305 + STC232 COSM5059271 c.569G>A p.R190H Substitution - Missense 3:127677009-127677009 + 1N33-VS-1T33 COSM4974622 c.142C>A p.H48N Substitution - Missense 3:127674567-127674567 + TCGA-EE-A29D-06 COSM3587035 c.870C>T p.F290F Substitution - coding silent 3:127677684-127677684 + TLE43 COSM4167959 c.394G>A p.V132I Substitution - Missense 3:127676345-127676345 + ZZUFHECRKL-G059T COSM3059313 c.1259C>T p.A420V Substitution - Missense 3:127680297-127680297 + TCGA-AU-6004-01 COSM1418725 c.367G>T p.G123W Substitution - Missense 3:127676318-127676318 + T3080 COSM4658631 c.1117G>C p.A373P Substitution - Missense 3:127680072-127680072 + YUPAER COSM5398091 c.923G>A p.S308N Substitution - Missense 3:127677737-127677737 + TCGA-BR-8368-01 COSM4113213 c.1251C>T p.F417F Substitution - coding silent 3:127680289-127680289 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.107801;Hs.107812 3q21 608308

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T Missense p.H158L c.473A>T 3 127395267 COREAD - C Frameshift p.E252Rfs*5 c.753dupC 3 127396115 AML C - Frameshift p.E252Sfs*102 c.753delC 3 127396115 STAD C G Missense p.D102E c.306C>G 3 127394943 HNSC C T IntronicSNV . c.862-14C>T 3 127396505 HC C T IntronicSNV . c.862-21C>T 3 127396498 CM C T Missense p.R130C c.388C>T 3 127395182 HNSC C T Missense p.R392C c.1174C>T 3 127398972 LUSC C T Synonymous p.A356A c.1068C>T 3 127398866 ESCA C T Synonymous p.D116D c.348C>T 3 127395142 BRCA C T Synonymous p.F276F c.828C>T 3 127396373 LUSC C T Synonymous p.G16G c.48C>T 3 127391916 BLCA C T Synonymous p.I474I c.1422C>T 3 127399303 CM C T Synonymous p.L201L c.603C>T 3 127395886 HNSC C T Synonymous p.L237L c.711C>T 3 127396078 CM C T Synonymous p.R386R c.1158C>T 3 127398956 BRCA C T Synonymous p.S455S c.1365C>T 3 127399246 LUSC G A IntronicSNV . c.1029+668G>A 3 127397354 HC G A Missense p.E63K c.187G>A 3 127394824 CM G A Missense p.R254Q c.761G>A 3 127396128 UCEC G A Missense p.V278M c.832G>A 3 127396377 CM G A Missense p.V333M c.997G>A 3 127396654 STAD G A Nonsense p.W148* c.443G>A 3 127395237 CM G A Synonymous p.A420A c.1260G>A 3 127399141 PRAD G T IntronicSNV . c.119+23G>T 3 127393319 NSCLC G T Missense p.G316C c.946G>T 3 127396603 GBM G T Missense p.R107L c.320G>T 3 127394957 MB G T Missense p.V31L c.91G>T 3 127393268 LUAD G T Synonymous p.L372L c.1116G>T 3 127398914 STAD GTTTTTTCTTTTTT - IntronicDeletion . c.175+657_175+670delGTTTTTTCTTTTTT 3 127394100 CLL