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 4 186324770 186324770 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr4:186324770C>T c.1201G>A c.(1201-1203)Gga>Aga p.G401R BLCA 4 186329122 186329122 + Silent SNP C C T TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chr4:186329122C>T c.1089G>A c.(1087-1089)ttG>ttA p.L363L BLCA 4 186329155 186329156 + Frame_Shift_Ins INS - - TG TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 g.chr4:186329155_186329156insTG c.1055_1056insCA c.(1054-1056)ggafs p.G352fs BLCA 4 186329556 186329556 + Missense_Mutation SNP G G C TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr4:186329556G>C c.865C>G c.(865-867)Cat>Gat p.H289D BLCA 4 186334999 186334999 + Missense_Mutation SNP G G T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 g.chr4:186334999G>T c.712C>A c.(712-714)Cac>Aac p.H238N BLCA 4 186339602 186339602 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr4:186339602G>A c.326C>T c.(325-327)tCa>tTa p.S109L BRCA 4 186336952 186336952 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 g.chr4:186336952C>T c.403G>A c.(403-405)Gaa>Aaa p.E135K BRCA 4 186339818 186339818 + Nonsense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr4:186339818C>T c.189G>A c.(187-189)tgG>tgA p.W63* BRCA 4 186343669 186343669 + Missense_Mutation SNP C C G TCGA-BH-A5IZ-01A-11D-A27P-09 TCGA-BH-A5IZ-10A-01D-A27P-09 g.chr4:186343669C>G c.52G>C c.(52-54)Gat>Cat p.D18H CESC 4 186339923 186339923 + Splice_Site SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr4:186339923T>G c.84A>C c.(82-84)gaA>gaC p.E28D COAD 4 186326934 186326934 + Splice_Site SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr4:186326934C>T c.1198G>A c.(1198-1200)Ggg>Agg p.G400R COAD 4 186336370 186336370 + Frame_Shift_Del DEL T T - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr4:186336370delT c.623delA c.(622-624)aatfs p.N208fs COAD 4 186336373 186336373 + Missense_Mutation SNP T T G TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr4:186336373T>G c.620A>C c.(619-621)aAa>aCa p.K207T COAD 4 186336373 186336373 + Missense_Mutation SNP T T G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:186336373T>G c.620A>C c.(619-621)aAa>aCa p.K207T COAD 4 186336962 186336962 + Silent SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr4:186336962C>T c.393G>A c.(391-393)acG>acA p.T131T COADREAD 4 186324648 186324649 + Splice_Site INS - - T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:186324648_186324649insT c.1322_1323insA c.(1321-1323)aag>aaAg p.K441fs COADREAD 4 186326934 186326934 + Splice_Site SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr4:186326934C>T c.1198G>A c.(1198-1200)Ggg>Agg p.G400R COADREAD 4 186336370 186336370 + Frame_Shift_Del DEL T T - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr4:186336370delT c.623delA c.(622-624)aatfs p.N208fs COADREAD 4 186336373 186336373 + Missense_Mutation SNP T T G TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr4:186336373T>G c.620A>C c.(619-621)aAa>aCa p.K207T COADREAD 4 186336373 186336373 + Missense_Mutation SNP T T G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:186336373T>G c.620A>C c.(619-621)aAa>aCa p.K207T COADREAD 4 186336962 186336962 + Silent SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr4:186336962C>T c.393G>A c.(391-393)acG>acA p.T131T DLBC 4 186329507 186329507 + Missense_Mutation SNP C C T TCGA-FF-8047-01A-11D-2210-10 TCGA-FF-8047-10A-01D-2210-10 g.chr4:186329507C>T c.914G>A c.(913-915)cGa>cAa p.R305Q ESCA 4 186324742 186324742 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 g.chr4:186324742C>T c.1229G>A c.(1228-1230)gGa>gAa p.G410E ESCA 4 186329540 186329540 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 g.chr4:186329540C>T c.881G>A c.(880-882)cGc>cAc p.R294H ESCA 4 186336464 186336464 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 g.chr4:186336464G>T c.529C>A c.(529-531)Cta>Ata p.L177I ESCA 4 186339751 186339751 + Missense_Mutation SNP G G A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 g.chr4:186339751G>A c.256C>T c.(256-258)Cgc>Tgc p.R86C GBM 4 186334930 186334930 + Missense_Mutation SNP T T C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 g.chr4:186334930T>C c.781A>G c.(781-783)Att>Gtt p.I261V GBMLGG 4 186334930 186334930 + Missense_Mutation SNP T T C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 g.chr4:186334930T>C c.781A>G c.(781-783)Att>Gtt p.I261V GBMLGG 4 186339907 186339907 + Missense_Mutation SNP C C A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 g.chr4:186339907C>A c.100G>T c.(100-102)Gca>Tca p.A34S HNSC 4 186329493 186329493 + Missense_Mutation SNP T T C TCGA-T2-A6WZ-01A-21D-A34J-08 TCGA-T2-A6WZ-10B-01D-A34M-08 g.chr4:186329493T>C c.928A>G c.(928-930)Atc>Gtc p.I310V HNSC 4 186339890 186339890 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 g.chr4:186339890C>G c.117G>C c.(115-117)ttG>ttC p.L39F HNSC 4 186343657 186343657 + Missense_Mutation SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 g.chr4:186343657G>C c.64C>G c.(64-66)Cag>Gag p.Q22E KIPAN 4 186324652 186324652 + Missense_Mutation SNP T T C TCGA-P4-AAVM-01A-11D-A42J-10 TCGA-P4-AAVM-11A-11D-A42M-10 g.chr4:186324652T>C c.1319A>G c.(1318-1320)gAa>gGa p.E440G KIRP 4 186324652 186324652 + Missense_Mutation SNP T T C TCGA-P4-AAVM-01A-11D-A42J-10 TCGA-P4-AAVM-11A-11D-A42M-10 g.chr4:186324652T>C c.1319A>G c.(1318-1320)gAa>gGa p.E440G LGG 4 186339907 186339907 + Missense_Mutation SNP C C A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 g.chr4:186339907C>A c.100G>T c.(100-102)Gca>Tca p.A34S LIHC 4 186336995 186336995 + Missense_Mutation SNP C C T TCGA-BC-A10W-01A-11D-A12Z-10 TCGA-BC-A10W-11A-11D-A12Z-10 g.chr4:186336995C>T c.360G>A c.(358-360)atG>atA p.M120I LUAD 4 186329175 186329175 + Nonsense_Mutation SNP C C A TCGA-97-A4M3-01A-11D-A24P-08 TCGA-97-A4M3-10A-01D-A24P-08 g.chr4:186329175C>A c.1036G>T c.(1036-1038)Gga>Tga p.G346* LUAD 4 186336883 186336883 + Missense_Mutation SNP G G A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 g.chr4:186336883G>A c.472C>T c.(472-474)Cca>Tca p.P158S LUAD 4 186339797 186339797 + Silent SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 g.chr4:186339797G>T c.210C>A c.(208-210)acC>acA p.T70T LUSC 4 186336339 186336339 + Missense_Mutation SNP T T C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 g.chr4:186336339T>C c.654A>G c.(652-654)atA>atG p.I218M LUSC 4 186343691 186343691 + Silent SNP G G C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 g.chr4:186343691G>C c.30C>G c.(28-30)ctC>ctG p.L10L PAAD 4 186329507 186329507 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:186329507C>T c.914G>A c.(913-915)cGa>cAa p.R305Q PAAD 4 186329545 186329545 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:186329545C>A c.876G>T c.(874-876)caG>caT p.Q292H PAAD 4 186336369 186336370 + Frame_Shift_Ins INS - - T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 g.chr4:186336369_186336370insT c.623_624insA c.(622-624)aatfs p.N208fs PAAD 4 186339802 186339802 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:186339802T>G c.205A>C c.(205-207)Aac>Cac p.N69H PRAD 4 186329110 186329110 + Silent SNP C C T TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 g.chr4:186329110C>T c.1101G>A c.(1099-1101)acG>acA p.T367T PRAD 4 186329445 186329445 + Missense_Mutation SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:186329445T>C c.976A>G c.(976-978)Aca>Gca p.T326A READ 4 186324648 186324649 + Splice_Site INS - - T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:186324648_186324649insT c.1322_1323insA c.(1321-1323)aag>aaAg p.K441fs SKCM 4 186329116 186329116 + Silent SNP A A G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr4:186329116A>G c.1095T>C c.(1093-1095)ggT>ggC p.G365G SKCM 4 186336952 186336952 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr4:186336952C>T c.403G>A c.(403-405)Gaa>Aaa p.E135K

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 4 186318425 186318425 single base substitution A G downstream_gene_variant BLCA-CN 4 186326993 186326993 single base substitution G A 3_prime_UTR_variant BLCA-CN 4 186326993 186326993 single base substitution G A exon_variant BLCA-CN 4 186326993 186326993 single base substitution G A missense_variant A108V 323C>T BLCA-CN 4 186326993 186326993 single base substitution G A missense_variant A278V 833C>T BLCA-CN 4 186326993 186326993 single base substitution G A missense_variant A380V 1139C>T BLCA-CN 4 186336883 186336883 single base substitution G C 3_prime_UTR_variant BLCA-CN 4 186336883 186336883 single base substitution G C downstream_gene_variant BLCA-CN 4 186336883 186336883 single base substitution G C exon_variant BLCA-CN 4 186336883 186336883 single base substitution G C missense_variant P158A 472C>G BLCA-CN 4 186336883 186336883 single base substitution G C missense_variant P71A 211C>G BLCA-CN 4 186336883 186336883 single base substitution G C upstream_gene_variant BLCA-US 4 186324770 186324770 single base substitution C T missense_variant G129R 385G>A BLCA-US 4 186324770 186324770 single base substitution C T missense_variant G299R 895G>A BLCA-US 4 186324770 186324770 single base substitution C T missense_variant G401R 1201G>A BLCA-US 4 186324770 186324770 single base substitution C T splice_region_variant BLCA-US 4 186329155 186329155 insertion of <=200bp - TG 3_prime_UTR_variant BLCA-US 4 186329155 186329155 insertion of <=200bp - TG exon_variant BLCA-US 4 186329155 186329155 insertion of <=200bp - TG frameshift_variant G250G? BLCA-US 4 186329155 186329155 insertion of <=200bp - TG frameshift_variant G352G? BLCA-US 4 186329155 186329155 insertion of <=200bp - TG frameshift_variant G80G? BLCA-US 4 186329155 186329155 insertion of <=200bp - TG upstream_gene_variant BLCA-US 4 186334999 186334999 single base substitution G T 3_prime_UTR_variant BLCA-US 4 186334999 186334999 single base substitution G T downstream_gene_variant BLCA-US 4 186334999 186334999 single base substitution G T exon_variant BLCA-US 4 186334999 186334999 single base substitution G T missense_variant H151N 451C>A BLCA-US 4 186334999 186334999 single base substitution G T missense_variant H238N 712C>A BLCA-US 4 186334999 186334999 single base substitution G T upstream_gene_variant BOCA-FR 4 186341840 186341840 single base substitution T C intron_variant BOCA-FR 4 186341840 186341840 single base substitution T C upstream_gene_variant BRCA-EU 4 186316224 186316224 single base substitution G C downstream_gene_variant BRCA-EU 4 186316446 186316446 single base substitution C G downstream_gene_variant BRCA-EU 4 186316727 186316727 single base substitution T C downstream_gene_variant BRCA-EU 4 186317888 186317888 single base substitution C G downstream_gene_variant BRCA-EU 4 186318742 186318742 single base substitution C G downstream_gene_variant BRCA-EU 4 186323921 186323921 single base substitution C T intron_variant BRCA-EU 4 186324411 186324413 deletion of <=200bp TAT - intron_variant BRCA-EU 4 186325026 186325026 single base substitution G A intron_variant BRCA-EU 4 186325363 186325363 single base substitution G C intron_variant BRCA-EU 4 186326225 186326225 single base substitution C G intron_variant BRCA-EU 4 186327577 186327577 single base substitution G C intron_variant BRCA-EU 4 186327577 186327577 single base substitution G C upstream_gene_variant BRCA-EU 4 186327968 186327968 single base substitution G T intron_variant BRCA-EU 4 186327968 186327968 single base substitution G T upstream_gene_variant BRCA-EU 4 186328372 186328372 deletion of <=200bp T - intron_variant BRCA-EU 4 186328372 186328372 deletion of <=200bp T - upstream_gene_variant BRCA-EU 4 186329169 186329169 single base substitution G A 3_prime_UTR_variant BRCA-EU 4 186329169 186329169 single base substitution G A exon_variant BRCA-EU 4 186329169 186329169 single base substitution G A missense_variant R246W 736C>T BRCA-EU 4 186329169 186329169 single base substitution G A missense_variant R348W 1042C>T BRCA-EU 4 186329169 186329169 single base substitution G A missense_variant R76W 226C>T BRCA-EU 4 186329169 186329169 single base substitution G A upstream_gene_variant BRCA-EU 4 186329677 186329677 single base substitution T A intron_variant BRCA-EU 4 186329677 186329677 single base substitution T A upstream_gene_variant BRCA-EU 4 186329682 186329682 single base substitution G A intron_variant BRCA-EU 4 186329682 186329682 single base substitution G A upstream_gene_variant BRCA-EU 4 186331634 186331634 single base substitution C G downstream_gene_variant BRCA-EU 4 186331634 186331634 single base substitution C G intron_variant BRCA-EU 4 186331634 186331634 single base substitution C G upstream_gene_variant BRCA-EU 4 186332194 186332194 deletion of <=200bp A - downstream_gene_variant BRCA-EU 4 186332194 186332194 deletion of <=200bp A - intron_variant BRCA-EU 4 186332194 186332194 deletion of <=200bp A - upstream_gene_variant BRCA-EU 4 186332687 186332687 single base substitution G T downstream_gene_variant BRCA-EU 4 186332687 186332687 single base substitution G T intron_variant BRCA-EU 4 186332736 186332736 single base substitution G A downstream_gene_variant BRCA-EU 4 186332736 186332736 single base substitution G A intron_variant BRCA-EU 4 186333215 186333215 single base substitution A G downstream_gene_variant BRCA-EU 4 186333215 186333215 single base substitution A G intron_variant BRCA-EU 4 186334550 186334550 insertion of <=200bp - A downstream_gene_variant BRCA-EU 4 186334550 186334550 insertion of <=200bp - A intron_variant BRCA-EU 4 186334672 186334672 single base substitution A G downstream_gene_variant BRCA-EU 4 186334672 186334672 single base substitution A G intron_variant BRCA-EU 4 186338482 186338482 single base substitution C A intron_variant BRCA-EU 4 186338482 186338482 single base substitution C A upstream_gene_variant BRCA-EU 4 186338615 186338615 single base substitution C A intron_variant BRCA-EU 4 186338615 186338615 single base substitution C A upstream_gene_variant BRCA-EU 4 186339707 186339707 single base substitution G C intron_variant BRCA-EU 4 186339707 186339707 single base substitution G C upstream_gene_variant BRCA-EU 4 186340387 186340387 single base substitution G A intron_variant BRCA-EU 4 186340387 186340387 single base substitution G A upstream_gene_variant BRCA-EU 4 186340689 186340689 single base substitution G T intron_variant BRCA-EU 4 186340689 186340689 single base substitution G T upstream_gene_variant BRCA-EU 4 186341034 186341034 insertion of <=200bp - T intron_variant BRCA-EU 4 186341034 186341034 insertion of <=200bp - T upstream_gene_variant BRCA-EU 4 186341870 186341870 deletion of <=200bp A - intron_variant BRCA-EU 4 186341870 186341870 deletion of <=200bp A - upstream_gene_variant BRCA-EU 4 186343938 186343938 single base substitution G C intron_variant BRCA-EU 4 186343938 186343938 single base substitution G C upstream_gene_variant BRCA-EU 4 186344533 186344533 single base substitution G A intron_variant BRCA-EU 4 186344533 186344533 single base substitution G A upstream_gene_variant BRCA-EU 4 186344655 186344655 single base substitution C T intron_variant BRCA-EU 4 186344655 186344655 single base substitution C T upstream_gene_variant BRCA-EU 4 186345526 186345526 single base substitution C T intron_variant BRCA-EU 4 186345526 186345526 single base substitution C T upstream_gene_variant BRCA-EU 4 186347343 186347343 single base substitution G A upstream_gene_variant BRCA-EU 4 186348525 186348525 single base substitution T A upstream_gene_variant BRCA-EU 4 186349722 186349722 single base substitution A C upstream_gene_variant BRCA-EU 4 186350560 186350560 single base substitution G A upstream_gene_variant BRCA-EU 4 186351830 186351830 single base substitution G A upstream_gene_variant BRCA-EU 4 186352132 186352132 single base substitution G C upstream_gene_variant BRCA-FR 4 186326225 186326225 single base substitution C G intron_variant BRCA-FR 4 186327577 186327577 single base substitution G C intron_variant BRCA-FR 4 186327577 186327577 single base substitution G C upstream_gene_variant BRCA-FR 4 186338615 186338615 single base substitution C A intron_variant BRCA-FR 4 186338615 186338615 single base substitution C A upstream_gene_variant BRCA-FR 4 186341017 186341017 single base substitution C T intron_variant BRCA-FR 4 186341017 186341017 single base substitution C T upstream_gene_variant BRCA-FR 4 186349906 186349906 single base substitution T C upstream_gene_variant BRCA-FR 4 186350234 186350234 single base substitution C A upstream_gene_variant BRCA-FR 4 186351830 186351830 single base substitution G A upstream_gene_variant BRCA-FR 4 186352132 186352132 single base substitution G C upstream_gene_variant BRCA-UK 4 186318102 186318102 single base substitution G A downstream_gene_variant BRCA-UK 4 186332736 186332736 single base substitution G A downstream_gene_variant BRCA-UK 4 186332736 186332736 single base substitution G A intron_variant BRCA-US 4 186318102 186318102 single base substitution G A downstream_gene_variant BRCA-US 4 186336952 186336952 single base substitution C T 3_prime_UTR_variant BRCA-US 4 186336952 186336952 single base substitution C T downstream_gene_variant BRCA-US 4 186336952 186336952 single base substitution C T exon_variant BRCA-US 4 186336952 186336952 single base substitution C T missense_variant E135K 403G>A BRCA-US 4 186336952 186336952 single base substitution C T missense_variant E48K 142G>A BRCA-US 4 186336952 186336952 single base substitution C T upstream_gene_variant BRCA-US 4 186339818 186339818 single base substitution C T exon_variant BRCA-US 4 186339818 186339818 single base substitution C T stop_gained W57* 171G>A BRCA-US 4 186339818 186339818 single base substitution C T stop_gained W63* 189G>A BRCA-US 4 186339818 186339818 single base substitution C T upstream_gene_variant BTCA-JP 4 186323261 186323261 deletion of <=200bp T - downstream_gene_variant BTCA-JP 4 186323261 186323261 deletion of <=200bp T - intron_variant BTCA-JP 4 186323479 186323479 single base substitution T C intron_variant BTCA-JP 4 186323479 186323479 single base substitution T C missense_variant Y176C 527A>G BTCA-JP 4 186327056 186327056 single base substitution C T 3_prime_UTR_variant BTCA-JP 4 186327056 186327056 single base substitution C T exon_variant BTCA-JP 4 186327056 186327056 single base substitution C T intron_variant BTCA-JP 4 186339922 186339922 single base substitution T A missense_variant I23F 67A>T BTCA-JP 4 186339922 186339922 single base substitution T A missense_variant I29F 85A>T BTCA-JP 4 186339922 186339922 single base substitution T A splice_region_variant BTCA-JP 4 186339922 186339922 single base substitution T A upstream_gene_variant CESC-US 4 186320755 186320755 single base substitution G A 3_prime_UTR_variant CESC-US 4 186320755 186320755 single base substitution G A downstream_gene_variant CESC-US 4 186339923 186339923 single base substitution T G missense_variant E22D 66A>C CESC-US 4 186339923 186339923 single base substitution T G missense_variant E28D 84A>C CESC-US 4 186339923 186339923 single base substitution T G splice_region_variant CESC-US 4 186339923 186339923 single base substitution T G upstream_gene_variant CLLE-ES 4 186316631 186316631 single base substitution G A downstream_gene_variant CLLE-ES 4 186325159 186325159 single base substitution T G intron_variant CLLE-ES 4 186341277 186341277 single base substitution T G intron_variant CLLE-ES 4 186341277 186341277 single base substitution T G upstream_gene_variant COAD-US 4 186326934 186326934 single base substitution C T missense_variant G128R 382G>A COAD-US 4 186326934 186326934 single base substitution C T missense_variant G298R 892G>A COAD-US 4 186326934 186326934 single base substitution C T missense_variant G400R 1198G>A COAD-US 4 186326934 186326934 single base substitution C T splice_region_variant COAD-US 4 186336373 186336373 single base substitution T G 3_prime_UTR_variant COAD-US 4 186336373 186336373 single base substitution T G downstream_gene_variant COAD-US 4 186336373 186336373 single base substitution T G exon_variant COAD-US 4 186336373 186336373 single base substitution T G missense_variant K120T 359A>C COAD-US 4 186336373 186336373 single base substitution T G missense_variant K207T 620A>C COAD-US 4 186336373 186336373 single base substitution T G upstream_gene_variant COAD-US 4 186336465 186336465 single base substitution T C 3_prime_UTR_variant COAD-US 4 186336465 186336465 single base substitution T C downstream_gene_variant COAD-US 4 186336465 186336465 single base substitution T C exon_variant COAD-US 4 186336465 186336465 single base substitution T C synonymous_variant Q176Q 528A>G COAD-US 4 186336465 186336465 single base substitution T C synonymous_variant Q89Q 267A>G COAD-US 4 186336465 186336465 single base substitution T C upstream_gene_variant COCA-CN 4 186318550 186318550 single base substitution A C downstream_gene_variant COCA-CN 4 186321132 186321132 single base substitution A T 3_prime_UTR_variant COCA-CN 4 186321132 186321132 single base substitution A T downstream_gene_variant COCA-CN 4 186321135 186321135 single base substitution A C 3_prime_UTR_variant COCA-CN 4 186321135 186321135 single base substitution A C downstream_gene_variant COCA-CN 4 186321447 186321447 single base substitution C G 3_prime_UTR_variant COCA-CN 4 186321447 186321447 single base substitution C G downstream_gene_variant COCA-CN 4 186326173 186326173 single base substitution C T intron_variant COCA-CN 4 186329315 186329315 single base substitution C A intron_variant COCA-CN 4 186329315 186329315 single base substitution C A upstream_gene_variant COCA-CN 4 186336349 186336349 single base substitution G T 3_prime_UTR_variant COCA-CN 4 186336349 186336349 single base substitution G T downstream_gene_variant COCA-CN 4 186336349 186336349 single base substitution G T exon_variant COCA-CN 4 186336349 186336349 single base substitution G T missense_variant P128H 383C>A COCA-CN 4 186336349 186336349 single base substitution G T missense_variant P215H 644C>A COCA-CN 4 186336349 186336349 single base substitution G T upstream_gene_variant COCA-CN 4 186336831 186336831 single base substitution C A downstream_gene_variant COCA-CN 4 186336831 186336831 single base substitution C A intron_variant COCA-CN 4 186336831 186336831 single base substitution C A upstream_gene_variant COCA-CN 4 186336988 186336988 single base substitution T A 3_prime_UTR_variant COCA-CN 4 186336988 186336988 single base substitution T A exon_variant COCA-CN 4 186336988 186336988 single base substitution T A intron_variant COCA-CN 4 186336988 186336988 single base substitution T A missense_variant M117L 349A>T COCA-CN 4 186336988 186336988 single base substitution T A missense_variant M123L 367A>T COCA-CN 4 186336988 186336988 single base substitution T A missense_variant M36L 106A>T COCA-CN 4 186336988 186336988 single base substitution T A upstream_gene_variant COCA-CN 4 186343789 186343789 single base substitution C A intron_variant COCA-CN 4 186343789 186343789 single base substitution C A upstream_gene_variant COCA-CN 4 186350634 186350634 single base substitution T C upstream_gene_variant ESAD-UK 4 186320611 186320611 single base substitution C G downstream_gene_variant ESAD-UK 4 186320612 186320612 single base substitution C G downstream_gene_variant ESAD-UK 4 186320661 186320661 single base substitution A C downstream_gene_variant ESAD-UK 4 186320882 186320882 single base substitution G A 3_prime_UTR_variant ESAD-UK 4 186320882 186320882 single base substitution G A downstream_gene_variant ESAD-UK 4 186321290 186321290 single base substitution T C 3_prime_UTR_variant ESAD-UK 4 186321290 186321290 single base substitution T C downstream_gene_variant ESAD-UK 4 186321638 186321638 single base substitution T C downstream_gene_variant ESAD-UK 4 186321638 186321638 single base substitution T C intron_variant ESAD-UK 4 186322826 186322829 deletion of <=200bp GGCA - downstream_gene_variant ESAD-UK 4 186322826 186322829 deletion of <=200bp GGCA - intron_variant ESAD-UK 4 186327134 186327134 insertion of <=200bp - A exon_variant ESAD-UK 4 186327134 186327134 insertion of <=200bp - A intron_variant ESAD-UK 4 186327890 186327890 single base substitution C T intron_variant ESAD-UK 4 186327890 186327890 single base substitution C T upstream_gene_variant ESAD-UK 4 186328683 186328683 single base substitution A T intron_variant ESAD-UK 4 186328683 186328683 single base substitution A T upstream_gene_variant ESAD-UK 4 186329199 186329199 single base substitution C T 3_prime_UTR_variant ESAD-UK 4 186329199 186329199 single base substitution C T exon_variant ESAD-UK 4 186329199 186329199 single base substitution C T missense_variant G236R 706G>A ESAD-UK 4 186329199 186329199 single base substitution C T missense_variant G338R 1012G>A ESAD-UK 4 186329199 186329199 single base substitution C T missense_variant G66R 196G>A ESAD-UK 4 186329199 186329199 single base substitution C T upstream_gene_variant ESAD-UK 4 186335221 186335221 single base substitution G A downstream_gene_variant ESAD-UK 4 186335221 186335221 single base substitution G A intron_variant ESAD-UK 4 186335221 186335221 single base substitution G A upstream_gene_variant ESAD-UK 4 186335595 186335595 single base substitution G C downstream_gene_variant ESAD-UK 4 186335595 186335595 single base substitution G C intron_variant ESAD-UK 4 186335595 186335595 single base substitution G C upstream_gene_variant ESAD-UK 4 186337642 186337642 single base substitution C T intron_variant ESAD-UK 4 186337642 186337642 single base substitution C T upstream_gene_variant ESAD-UK 4 186338300 186338300 single base substitution C G intron_variant ESAD-UK 4 186338300 186338300 single base substitution C G upstream_gene_variant ESAD-UK 4 186338644 186338644 single base substitution T A intron_variant ESAD-UK 4 186338644 186338644 single base substitution T A upstream_gene_variant ESAD-UK 4 186340069 186340069 single base substitution C T intron_variant ESAD-UK 4 186340069 186340069 single base substitution C T upstream_gene_variant ESAD-UK 4 186340292 186340292 single base substitution T G intron_variant ESAD-UK 4 186340292 186340292 single base substitution T G upstream_gene_variant ESAD-UK 4 186341508 186341508 single base substitution C T intron_variant ESAD-UK 4 186341508 186341508 single base substitution C T upstream_gene_variant ESAD-UK 4 186346518 186346518 single base substitution G A intron_variant ESAD-UK 4 186346518 186346518 single base substitution G A upstream_gene_variant ESAD-UK 4 186347170 186347170 single base substitution A G upstream_gene_variant ESAD-UK 4 186348275 186348275 single base substitution G C upstream_gene_variant ESCA-CN 4 186350631 186350631 single base substitution T A upstream_gene_variant GBM-US 4 186334930 186334930 single base substitution T C 3_prime_UTR_variant GBM-US 4 186334930 186334930 single base substitution T C downstream_gene_variant GBM-US 4 186334930 186334930 single base substitution T C exon_variant GBM-US 4 186334930 186334930 single base substitution T C missense_variant I174V 520A>G GBM-US 4 186334930 186334930 single base substitution T C missense_variant I261V 781A>G GBM-US 4 186334930 186334930 single base substitution T C upstream_gene_variant KIRP-US 4 186334930 186334930 single base substitution T C 3_prime_UTR_variant KIRP-US 4 186334930 186334930 single base substitution T C downstream_gene_variant KIRP-US 4 186334930 186334930 single base substitution T C exon_variant KIRP-US 4 186334930 186334930 single base substitution T C missense_variant I174V 520A>G KIRP-US 4 186334930 186334930 single base substitution T C missense_variant I261V 781A>G KIRP-US 4 186334930 186334930 single base substitution T C upstream_gene_variant LAML-KR 4 186328223 186328223 single base substitution G T intron_variant LAML-KR 4 186328223 186328223 single base substitution G T upstream_gene_variant LAML-KR 4 186331838 186331838 single base substitution C T downstream_gene_variant LAML-KR 4 186331838 186331838 single base substitution C T intron_variant LAML-KR 4 186331838 186331838 single base substitution C T upstream_gene_variant LAML-KR 4 186334393 186334393 single base substitution T C downstream_gene_variant LAML-KR 4 186334393 186334393 single base substitution T C intron_variant LAML-KR 4 186348745 186348745 single base substitution T C upstream_gene_variant LICA-CN 4 186318393 186318393 single base substitution A T downstream_gene_variant LICA-FR 4 186319949 186319949 deletion of <=200bp A - downstream_gene_variant LICA-FR 4 186336348 186336348 single base substitution A C 3_prime_UTR_variant LICA-FR 4 186336348 186336348 single base substitution A C downstream_gene_variant LICA-FR 4 186336348 186336348 single base substitution A C exon_variant LICA-FR 4 186336348 186336348 single base substitution A C synonymous_variant P128P 384T>G LICA-FR 4 186336348 186336348 single base substitution A C synonymous_variant P215P 645T>G LICA-FR 4 186336348 186336348 single base substitution A C upstream_gene_variant LICA-FR 4 186336389 186336389 single base substitution A C 3_prime_UTR_variant LICA-FR 4 186336389 186336389 single base substitution A C downstream_gene_variant LICA-FR 4 186336389 186336389 single base substitution A C exon_variant LICA-FR 4 186336389 186336389 single base substitution A C missense_variant L115V 343T>G LICA-FR 4 186336389 186336389 single base substitution A C missense_variant L202V 604T>G LICA-FR 4 186336389 186336389 single base substitution A C upstream_gene_variant LICA-FR 4 186345295 186345296 deletion of <=200bp AA - intron_variant LICA-FR 4 186345295 186345296 deletion of <=200bp AA - upstream_gene_variant LINC-JP 4 186320974 186320974 single base substitution T C 3_prime_UTR_variant LINC-JP 4 186320974 186320974 single base substitution T C downstream_gene_variant LINC-JP 4 186322858 186322858 single base substitution T C downstream_gene_variant LINC-JP 4 186322858 186322858 single base substitution T C intron_variant LINC-JP 4 186329561 186329561 single base substitution T C 3_prime_UTR_variant LINC-JP 4 186329561 186329561 single base substitution T C exon_variant LINC-JP 4 186329561 186329561 single base substitution T C intron_variant LINC-JP 4 186329561 186329561 single base substitution T C missense_variant Y15C 44A>G LINC-JP 4 186329561 186329561 single base substitution T C missense_variant Y287C 860A>G LINC-JP 4 186329561 186329561 single base substitution T C upstream_gene_variant LINC-JP 4 186335122 186335122 single base substitution T C downstream_gene_variant LINC-JP 4 186335122 186335122 single base substitution T C intron_variant LINC-JP 4 186335122 186335122 single base substitution T C upstream_gene_variant LINC-JP 4 186336808 186336808 single base substitution G A downstream_gene_variant LINC-JP 4 186336808 186336808 single base substitution G A intron_variant LINC-JP 4 186336808 186336808 single base substitution G A upstream_gene_variant LINC-JP 4 186337025 186337025 single base substitution T C intron_variant LINC-JP 4 186337025 186337025 single base substitution T C splice_region_variant LINC-JP 4 186337025 186337025 single base substitution T C upstream_gene_variant LINC-JP 4 186339813 186339813 single base substitution C T exon_variant LINC-JP 4 186339813 186339813 single base substitution C T missense_variant S59N 176G>A LINC-JP 4 186339813 186339813 single base substitution C T missense_variant S65N 194G>A LINC-JP 4 186339813 186339813 single base substitution C T upstream_gene_variant LINC-JP 4 186347212 186347212 single base substitution G T upstream_gene_variant LINC-JP 4 186348269 186348269 single base substitution A G upstream_gene_variant LINC-JP 4 186350028 186350028 single base substitution G A upstream_gene_variant LIRI-JP 4 186316506 186316506 single base substitution T A downstream_gene_variant LIRI-JP 4 186318386 186318386 single base substitution T A downstream_gene_variant LIRI-JP 4 186320159 186320159 single base substitution T C downstream_gene_variant LIRI-JP 4 186320168 186320168 single base substitution T C downstream_gene_variant LIRI-JP 4 186320304 186320304 single base substitution A C downstream_gene_variant LIRI-JP 4 186321035 186321035 single base substitution T G 3_prime_UTR_variant LIRI-JP 4 186321035 186321035 single base substitution T G downstream_gene_variant LIRI-JP 4 186321278 186321278 single base substitution A G 3_prime_UTR_variant LIRI-JP 4 186321278 186321278 single base substitution A G downstream_gene_variant LIRI-JP 4 186323161 186323161 single base substitution T C downstream_gene_variant LIRI-JP 4 186323161 186323161 single base substitution T C intron_variant LIRI-JP 4 186324374 186324374 single base substitution A G intron_variant LIRI-JP 4 186325642 186325642 single base substitution A T intron_variant LIRI-JP 4 186326141 186326141 single base substitution A T intron_variant LIRI-JP 4 186327583 186327583 single base substitution T A intron_variant LIRI-JP 4 186327583 186327583 single base substitution T A upstream_gene_variant LIRI-JP 4 186334996 186334996 single base substitution C A 3_prime_UTR_variant LIRI-JP 4 186334996 186334996 single base substitution C A downstream_gene_variant LIRI-JP 4 186334996 186334996 single base substitution C A exon_variant LIRI-JP 4 186334996 186334996 single base substitution C A missense_variant D152Y 454G>T LIRI-JP 4 186334996 186334996 single base substitution C A missense_variant D239Y 715G>T LIRI-JP 4 186334996 186334996 single base substitution C A upstream_gene_variant LIRI-JP 4 186334998 186334998 single base substitution T G 3_prime_UTR_variant LIRI-JP 4 186334998 186334998 single base substitution T G downstream_gene_variant LIRI-JP 4 186334998 186334998 single base substitution T G exon_variant LIRI-JP 4 186334998 186334998 single base substitution T G missense_variant H151P 452A>C LIRI-JP 4 186334998 186334998 single base substitution T G missense_variant H238P 713A>C LIRI-JP 4 186334998 186334998 single base substitution T G upstream_gene_variant LIRI-JP 4 186335221 186335221 single base substitution G A downstream_gene_variant LIRI-JP 4 186335221 186335221 single base substitution G A intron_variant LIRI-JP 4 186335221 186335221 single base substitution G A upstream_gene_variant LIRI-JP 4 186335784 186335784 single base substitution A C downstream_gene_variant LIRI-JP 4 186335784 186335784 single base substitution A C intron_variant LIRI-JP 4 186335784 186335784 single base substitution A C upstream_gene_variant LIRI-JP 4 186339694 186339694 single base substitution G A intron_variant LIRI-JP 4 186339694 186339694 single base substitution G A upstream_gene_variant LIRI-JP 4 186339695 186339695 single base substitution A T intron_variant LIRI-JP 4 186339695 186339695 single base substitution A T upstream_gene_variant LIRI-JP 4 186340536 186340536 single base substitution G A intron_variant LIRI-JP 4 186340536 186340536 single base substitution G A upstream_gene_variant LIRI-JP 4 186340972 186340972 single base substitution T C intron_variant LIRI-JP 4 186340972 186340972 single base substitution T C upstream_gene_variant LIRI-JP 4 186342452 186342453 deletion of <=200bp TC - intron_variant LIRI-JP 4 186342452 186342453 deletion of <=200bp TC - upstream_gene_variant LIRI-JP 4 186347129 186347129 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 4 186347129 186347129 single base substitution C A upstream_gene_variant LIRI-JP 4 186347607 186347607 single base substitution G A upstream_gene_variant LIRI-JP 4 186352091 186352091 single base substitution C T upstream_gene_variant LUSC-KR 4 186326173 186326173 single base substitution C T intron_variant LUSC-KR 4 186331192 186331192 single base substitution A T intron_variant LUSC-KR 4 186331192 186331192 single base substitution A T upstream_gene_variant LUSC-KR 4 186339374 186339374 single base substitution G C intron_variant LUSC-KR 4 186339374 186339374 single base substitution G C upstream_gene_variant LUSC-US 4 186336339 186336339 single base substitution T C 3_prime_UTR_variant LUSC-US 4 186336339 186336339 single base substitution T C downstream_gene_variant LUSC-US 4 186336339 186336339 single base substitution T C exon_variant LUSC-US 4 186336339 186336339 single base substitution T C missense_variant I131M 393A>G LUSC-US 4 186336339 186336339 single base substitution T C missense_variant I218M 654A>G LUSC-US 4 186336339 186336339 single base substitution T C upstream_gene_variant LUSC-US 4 186343691 186343691 single base substitution G C exon_variant LUSC-US 4 186343691 186343691 single base substitution G C synonymous_variant L10L 30C>G LUSC-US 4 186343691 186343691 single base substitution G C synonymous_variant L4L 12C>G LUSC-US 4 186343691 186343691 single base substitution G C upstream_gene_variant MALY-DE 4 186321741 186321741 single base substitution T G downstream_gene_variant MALY-DE 4 186321741 186321741 single base substitution T G intron_variant MALY-DE 4 186325595 186325595 single base substitution G A intron_variant MALY-DE 4 186327215 186327215 single base substitution C A exon_variant MALY-DE 4 186327215 186327215 single base substitution C A intron_variant MALY-DE 4 186348715 186348715 single base substitution A G upstream_gene_variant MALY-DE 4 186349800 186349800 single base substitution A C upstream_gene_variant MALY-DE 4 186350704 186350704 single base substitution T C upstream_gene_variant MELA-AU 4 186315782 186315782 single base substitution A C downstream_gene_variant MELA-AU 4 186316603 186316603 single base substitution A G downstream_gene_variant MELA-AU 4 186317231 186317232 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 186317976 186317976 single base substitution C T downstream_gene_variant MELA-AU 4 186318393 186318393 single base substitution A C downstream_gene_variant MELA-AU 4 186318451 186318451 single base substitution C T downstream_gene_variant MELA-AU 4 186319541 186319541 single base substitution G A downstream_gene_variant MELA-AU 4 186319605 186319605 single base substitution C T downstream_gene_variant MELA-AU 4 186320547 186320547 single base substitution G A downstream_gene_variant MELA-AU 4 186320879 186320879 single base substitution A G 3_prime_UTR_variant MELA-AU 4 186320879 186320879 single base substitution A G downstream_gene_variant MELA-AU 4 186321707 186321707 single base substitution C T downstream_gene_variant MELA-AU 4 186321707 186321707 single base substitution C T intron_variant MELA-AU 4 186321757 186321757 single base substitution G A downstream_gene_variant MELA-AU 4 186321757 186321757 single base substitution G A intron_variant MELA-AU 4 186322952 186322952 single base substitution G A downstream_gene_variant MELA-AU 4 186322952 186322952 single base substitution G A intron_variant MELA-AU 4 186326102 186326102 single base substitution G A intron_variant MELA-AU 4 186327597 186327597 single base substitution G A intron_variant MELA-AU 4 186327597 186327597 single base substitution G A upstream_gene_variant MELA-AU 4 186327853 186327853 single base substitution C T intron_variant MELA-AU 4 186327853 186327853 single base substitution C T upstream_gene_variant MELA-AU 4 186328114 186328114 single base substitution G A intron_variant MELA-AU 4 186328114 186328114 single base substitution G A upstream_gene_variant MELA-AU 4 186330141 186330142 multiple base substitution (>=2bp and <=200bp) TT GA intron_variant MELA-AU 4 186330141 186330142 multiple base substitution (>=2bp and <=200bp) TT GA upstream_gene_variant MELA-AU 4 186330672 186330672 single base substitution A T intron_variant MELA-AU 4 186330672 186330672 single base substitution A T upstream_gene_variant MELA-AU 4 186330824 186330824 single base substitution G A intron_variant MELA-AU 4 186330824 186330824 single base substitution G A upstream_gene_variant MELA-AU 4 186330992 186330992 single base substitution A T intron_variant MELA-AU 4 186330992 186330992 single base substitution A T upstream_gene_variant MELA-AU 4 186332689 186332689 single base substitution G A downstream_gene_variant MELA-AU 4 186332689 186332689 single base substitution G A intron_variant MELA-AU 4 186336506 186336506 single base substitution G A downstream_gene_variant MELA-AU 4 186336506 186336506 single base substitution G A intron_variant MELA-AU 4 186336506 186336506 single base substitution G A splice_region_variant MELA-AU 4 186336506 186336506 single base substitution G A upstream_gene_variant MELA-AU 4 186336669 186336669 single base substitution G A downstream_gene_variant MELA-AU 4 186336669 186336669 single base substitution G A intron_variant MELA-AU 4 186336669 186336669 single base substitution G A upstream_gene_variant MELA-AU 4 186337351 186337351 single base substitution G T intron_variant MELA-AU 4 186337351 186337351 single base substitution G T upstream_gene_variant MELA-AU 4 186339147 186339147 single base substitution G A intron_variant MELA-AU 4 186339147 186339147 single base substitution G A upstream_gene_variant MELA-AU 4 186340293 186340293 single base substitution C G intron_variant MELA-AU 4 186340293 186340293 single base substitution C G upstream_gene_variant MELA-AU 4 186341842 186341842 single base substitution C T intron_variant MELA-AU 4 186341842 186341842 single base substitution C T upstream_gene_variant MELA-AU 4 186344696 186344696 single base substitution A C intron_variant MELA-AU 4 186344696 186344696 single base substitution A C upstream_gene_variant MELA-AU 4 186345879 186345879 single base substitution G A intron_variant MELA-AU 4 186345879 186345879 single base substitution G A upstream_gene_variant MELA-AU 4 186346420 186346420 single base substitution G A intron_variant MELA-AU 4 186346420 186346420 single base substitution G A upstream_gene_variant MELA-AU 4 186347125 186347125 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 4 186347125 186347125 single base substitution G A upstream_gene_variant MELA-AU 4 186347284 186347284 single base substitution C T upstream_gene_variant MELA-AU 4 186347403 186347403 single base substitution C T upstream_gene_variant MELA-AU 4 186347808 186347808 single base substitution C A upstream_gene_variant MELA-AU 4 186348073 186348074 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 186348635 186348635 single base substitution C T upstream_gene_variant MELA-AU 4 186349448 186349449 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 186349758 186349758 single base substitution C T upstream_gene_variant MELA-AU 4 186350025 186350032 deletion of <=200bp AATGTGTT - upstream_gene_variant MELA-AU 4 186350210 186350210 single base substitution C T upstream_gene_variant MELA-AU 4 186350359 186350359 single base substitution C T upstream_gene_variant MELA-AU 4 186350420 186350420 single base substitution G C upstream_gene_variant MELA-AU 4 186351321 186351321 single base substitution C T upstream_gene_variant MELA-AU 4 186351931 186351931 single base substitution C T upstream_gene_variant MELA-AU 4 186352020 186352020 single base substitution C T upstream_gene_variant MELA-AU 4 186352039 186352039 single base substitution G A upstream_gene_variant ORCA-IN 4 186338245 186338249 deletion of <=200bp AAGTG - intron_variant ORCA-IN 4 186338245 186338249 deletion of <=200bp AAGTG - upstream_gene_variant ORCA-IN 4 186339122 186339122 single base substitution C T intron_variant ORCA-IN 4 186339122 186339122 single base substitution C T upstream_gene_variant OV-AU 4 186321757 186321757 single base substitution G C downstream_gene_variant OV-AU 4 186321757 186321757 single base substitution G C intron_variant OV-AU 4 186328178 186328178 single base substitution T C intron_variant OV-AU 4 186328178 186328178 single base substitution T C upstream_gene_variant OV-AU 4 186331162 186331162 single base substitution C G intron_variant OV-AU 4 186331162 186331162 single base substitution C G upstream_gene_variant OV-AU 4 186332111 186332111 single base substitution A G downstream_gene_variant OV-AU 4 186332111 186332111 single base substitution A G intron_variant OV-AU 4 186332111 186332111 single base substitution A G upstream_gene_variant OV-AU 4 186332591 186332591 single base substitution A G downstream_gene_variant OV-AU 4 186332591 186332591 single base substitution A G intron_variant OV-AU 4 186344227 186344227 single base substitution G C intron_variant OV-AU 4 186344227 186344227 single base substitution G C upstream_gene_variant PACA-AU 4 186318464 186318464 single base substitution G T downstream_gene_variant PACA-AU 4 186320748 186320748 single base substitution A G 3_prime_UTR_variant PACA-AU 4 186320748 186320748 single base substitution A G downstream_gene_variant PACA-AU 4 186342431 186342431 single base substitution G A intron_variant PACA-AU 4 186342431 186342431 single base substitution G A upstream_gene_variant PACA-AU 4 186343025 186343025 single base substitution G A intron_variant PACA-AU 4 186343025 186343025 single base substitution G A upstream_gene_variant PACA-AU 4 186347356 186347356 single base substitution C T upstream_gene_variant PACA-AU 4 186348464 186348464 deletion of <=200bp G - upstream_gene_variant PACA-AU 4 186349227 186349227 single base substitution C T upstream_gene_variant PACA-AU 4 186350588 186350588 single base substitution C T upstream_gene_variant PACA-CA 4 186315946 186315946 deletion of <=200bp T - downstream_gene_variant PACA-CA 4 186318796 186318796 single base substitution C A downstream_gene_variant PACA-CA 4 186321435 186321435 single base substitution C T 3_prime_UTR_variant PACA-CA 4 186321435 186321435 single base substitution C T downstream_gene_variant PACA-CA 4 186326660 186326660 single base substitution C G intron_variant PACA-CA 4 186330550 186330550 single base substitution C T intron_variant PACA-CA 4 186330550 186330550 single base substitution C T upstream_gene_variant PACA-CA 4 186332032 186332032 single base substitution G A downstream_gene_variant PACA-CA 4 186332032 186332032 single base substitution G A intron_variant PACA-CA 4 186332032 186332032 single base substitution G A upstream_gene_variant PACA-CA 4 186333660 186333660 single base substitution G A downstream_gene_variant PACA-CA 4 186333660 186333660 single base substitution G A intron_variant PACA-CA 4 186333884 186333884 single base substitution G A downstream_gene_variant PACA-CA 4 186333884 186333884 single base substitution G A intron_variant PACA-CA 4 186339281 186339281 single base substitution G A intron_variant PACA-CA 4 186339281 186339281 single base substitution G A upstream_gene_variant PACA-CA 4 186339956 186339956 deletion of <=200bp A - intron_variant PACA-CA 4 186339956 186339956 deletion of <=200bp A - upstream_gene_variant PACA-CA 4 186340261 186340261 single base substitution G A intron_variant PACA-CA 4 186340261 186340261 single base substitution G A upstream_gene_variant PACA-CA 4 186341185 186341185 single base substitution A G intron_variant PACA-CA 4 186341185 186341185 single base substitution A G upstream_gene_variant PACA-CA 4 186344079 186344079 single base substitution C G intron_variant PACA-CA 4 186344079 186344079 single base substitution C G upstream_gene_variant PAEN-AU 4 186325026 186325026 single base substitution G T intron_variant PAEN-AU 4 186337917 186337917 single base substitution T C intron_variant PAEN-AU 4 186337917 186337917 single base substitution T C upstream_gene_variant PAEN-IT 4 186327830 186327830 single base substitution A G intron_variant PAEN-IT 4 186327830 186327830 single base substitution A G upstream_gene_variant PAEN-IT 4 186332285 186332285 single base substitution T A downstream_gene_variant PAEN-IT 4 186332285 186332285 single base substitution T A intron_variant PAEN-IT 4 186332285 186332285 single base substitution T A upstream_gene_variant PBCA-DE 4 186325843 186325843 single base substitution G A intron_variant PBCA-DE 4 186328547 186328547 single base substitution G T intron_variant PBCA-DE 4 186328547 186328547 single base substitution G T upstream_gene_variant PBCA-DE 4 186329390 186329390 single base substitution C T intron_variant PBCA-DE 4 186329390 186329390 single base substitution C T upstream_gene_variant PBCA-DE 4 186335519 186335519 single base substitution C A downstream_gene_variant PBCA-DE 4 186335519 186335519 single base substitution C A intron_variant PBCA-DE 4 186335519 186335519 single base substitution C A upstream_gene_variant PBCA-DE 4 186339347 186339347 single base substitution A C intron_variant PBCA-DE 4 186339347 186339347 single base substitution A C upstream_gene_variant PRAD-CA 4 186351675 186351675 single base substitution G C upstream_gene_variant PRAD-UK 4 186319134 186319134 single base substitution G T downstream_gene_variant PRAD-UK 4 186324542 186324542 single base substitution A G intron_variant PRAD-UK 4 186324545 186324545 single base substitution T G intron_variant PRAD-UK 4 186324546 186324546 single base substitution C A intron_variant PRAD-UK 4 186326602 186326602 single base substitution C G intron_variant PRAD-UK 4 186331158 186331158 single base substitution G A intron_variant PRAD-UK 4 186331158 186331158 single base substitution G A upstream_gene_variant PRAD-US 4 186318457 186318457 insertion of <=200bp - T downstream_gene_variant PRAD-US 4 186329110 186329110 single base substitution C T 3_prime_UTR_variant PRAD-US 4 186329110 186329110 single base substitution C T exon_variant PRAD-US 4 186329110 186329110 single base substitution C T synonymous_variant T265T 795G>A PRAD-US 4 186329110 186329110 single base substitution C T synonymous_variant T367T 1101G>A PRAD-US 4 186329110 186329110 single base substitution C T synonymous_variant T95T 285G>A PRAD-US 4 186329110 186329110 single base substitution C T upstream_gene_variant READ-US 4 186334996 186334996 single base substitution C T 3_prime_UTR_variant READ-US 4 186334996 186334996 single base substitution C T downstream_gene_variant READ-US 4 186334996 186334996 single base substitution C T exon_variant READ-US 4 186334996 186334996 single base substitution C T missense_variant D152N 454G>A READ-US 4 186334996 186334996 single base substitution C T missense_variant D239N 715G>A READ-US 4 186334996 186334996 single base substitution C T upstream_gene_variant RECA-EU 4 186315961 186315961 single base substitution G A downstream_gene_variant RECA-EU 4 186327042 186327042 single base substitution T C 3_prime_UTR_variant RECA-EU 4 186327042 186327042 single base substitution T C exon_variant RECA-EU 4 186327042 186327042 single base substitution T C intron_variant RECA-EU 4 186332158 186332158 single base substitution G T downstream_gene_variant RECA-EU 4 186332158 186332158 single base substitution G T intron_variant RECA-EU 4 186332158 186332158 single base substitution G T upstream_gene_variant RECA-EU 4 186334399 186334399 single base substitution A T downstream_gene_variant RECA-EU 4 186334399 186334399 single base substitution A T intron_variant RECA-EU 4 186344545 186344545 single base substitution T A intron_variant RECA-EU 4 186344545 186344545 single base substitution T A upstream_gene_variant RECA-EU 4 186346530 186346530 single base substitution A G intron_variant RECA-EU 4 186346530 186346530 single base substitution A G upstream_gene_variant RECA-EU 4 186346531 186346531 single base substitution A T intron_variant RECA-EU 4 186346531 186346531 single base substitution A T upstream_gene_variant RECA-EU 4 186346532 186346532 single base substitution A C intron_variant RECA-EU 4 186346532 186346532 single base substitution A C upstream_gene_variant SKCA-BR 4 186316410 186316410 single base substitution A T downstream_gene_variant SKCA-BR 4 186317217 186317217 single base substitution G T downstream_gene_variant SKCA-BR 4 186317808 186317808 single base substitution T C downstream_gene_variant SKCA-BR 4 186317814 186317814 single base substitution T C downstream_gene_variant SKCA-BR 4 186319814 186319814 single base substitution T A downstream_gene_variant SKCA-BR 4 186326156 186326156 insertion of <=200bp - CT intron_variant SKCA-BR 4 186331604 186331604 single base substitution A T downstream_gene_variant SKCA-BR 4 186331604 186331604 single base substitution A T intron_variant SKCA-BR 4 186331604 186331604 single base substitution A T upstream_gene_variant SKCA-BR 4 186333243 186333243 single base substitution G A downstream_gene_variant SKCA-BR 4 186333243 186333243 single base substitution G A intron_variant SKCA-BR 4 186336583 186336583 single base substitution G A downstream_gene_variant SKCA-BR 4 186336583 186336583 single base substitution G A intron_variant SKCA-BR 4 186336583 186336583 single base substitution G A upstream_gene_variant SKCA-BR 4 186338758 186338758 single base substitution C T intron_variant SKCA-BR 4 186338758 186338758 single base substitution C T upstream_gene_variant SKCA-BR 4 186340924 186340924 single base substitution A G intron_variant SKCA-BR 4 186340924 186340924 single base substitution A G upstream_gene_variant SKCA-BR 4 186342679 186342679 single base substitution C T intron_variant SKCA-BR 4 186342679 186342679 single base substitution C T upstream_gene_variant SKCA-BR 4 186345229 186345229 single base substitution A G intron_variant SKCA-BR 4 186345229 186345229 single base substitution A G upstream_gene_variant SKCA-BR 4 186345326 186345326 single base substitution T G intron_variant SKCA-BR 4 186345326 186345326 single base substitution T G upstream_gene_variant SKCA-BR 4 186346996 186346996 single base substitution T G intron_variant SKCA-BR 4 186346996 186346996 single base substitution T G upstream_gene_variant SKCM-US 4 186329116 186329116 single base substitution A G 3_prime_UTR_variant SKCM-US 4 186329116 186329116 single base substitution A G exon_variant SKCM-US 4 186329116 186329116 single base substitution A G synonymous_variant G263G 789T>C SKCM-US 4 186329116 186329116 single base substitution A G synonymous_variant G365G 1095T>C SKCM-US 4 186329116 186329116 single base substitution A G synonymous_variant G93G 279T>C SKCM-US 4 186329116 186329116 single base substitution A G upstream_gene_variant SKCM-US 4 186329176 186329176 single base substitution G A 3_prime_UTR_variant SKCM-US 4 186329176 186329176 single base substitution G A exon_variant SKCM-US 4 186329176 186329176 single base substitution G A synonymous_variant V243V 729C>T SKCM-US 4 186329176 186329176 single base substitution G A synonymous_variant V345V 1035C>T SKCM-US 4 186329176 186329176 single base substitution G A synonymous_variant V73V 219C>T SKCM-US 4 186329176 186329176 single base substitution G A upstream_gene_variant SKCM-US 4 186336952 186336952 single base substitution C T 3_prime_UTR_variant SKCM-US 4 186336952 186336952 single base substitution C T downstream_gene_variant SKCM-US 4 186336952 186336952 single base substitution C T exon_variant SKCM-US 4 186336952 186336952 single base substitution C T missense_variant E135K 403G>A SKCM-US 4 186336952 186336952 single base substitution C T missense_variant E48K 142G>A SKCM-US 4 186336952 186336952 single base substitution C T upstream_gene_variant STAD-US 4 186324686 186324686 single base substitution A G 3_prime_UTR_variant STAD-US 4 186324686 186324686 single base substitution A G exon_variant STAD-US 4 186324686 186324686 single base substitution A G missense_variant Y157H 469T>C STAD-US 4 186324686 186324686 single base substitution A G missense_variant Y327H 979T>C STAD-US 4 186324686 186324686 single base substitution A G missense_variant Y429H 1285T>C STAD-US 4 186329110 186329110 single base substitution C T 3_prime_UTR_variant STAD-US 4 186329110 186329110 single base substitution C T exon_variant STAD-US 4 186329110 186329110 single base substitution C T synonymous_variant T265T 795G>A STAD-US 4 186329110 186329110 single base substitution C T synonymous_variant T367T 1101G>A STAD-US 4 186329110 186329110 single base substitution C T synonymous_variant T95T 285G>A STAD-US 4 186329110 186329110 single base substitution C T upstream_gene_variant STAD-US 4 186336377 186336377 single base substitution T A 3_prime_UTR_variant STAD-US 4 186336377 186336377 single base substitution T A downstream_gene_variant STAD-US 4 186336377 186336377 single base substitution T A exon_variant STAD-US 4 186336377 186336377 single base substitution T A stop_gained K119* 355A>T STAD-US 4 186336377 186336377 single base substitution T A stop_gained K206* 616A>T STAD-US 4 186336377 186336377 single base substitution T A upstream_gene_variant STAD-US 4 186336496 186336496 single base substitution C T 3_prime_UTR_variant STAD-US 4 186336496 186336496 single base substitution C T downstream_gene_variant STAD-US 4 186336496 186336496 single base substitution C T exon_variant STAD-US 4 186336496 186336496 single base substitution C T missense_variant R166H 497G>A STAD-US 4 186336496 186336496 single base substitution C T missense_variant R79H 236G>A STAD-US 4 186336496 186336496 single base substitution C T upstream_gene_variant THCA-SA 4 186326934 186326934 single base substitution C T missense_variant G128R 382G>A THCA-SA 4 186326934 186326934 single base substitution C T missense_variant G298R 892G>A THCA-SA 4 186326934 186326934 single base substitution C T missense_variant G400R 1198G>A THCA-SA 4 186326934 186326934 single base substitution C T splice_region_variant UCEC-US 4 186320148 186320148 single base substitution C A downstream_gene_variant UCEC-US 4 186320918 186320918 single base substitution G T 3_prime_UTR_variant UCEC-US 4 186320918 186320918 single base substitution G T downstream_gene_variant UCEC-US 4 186326973 186326973 single base substitution C A 3_prime_UTR_variant UCEC-US 4 186326973 186326973 single base substitution C A exon_variant UCEC-US 4 186326973 186326973 single base substitution C A missense_variant A115S 343G>T UCEC-US 4 186326973 186326973 single base substitution C A missense_variant A285S 853G>T UCEC-US 4 186326973 186326973 single base substitution C A missense_variant A387S 1159G>T UCEC-US 4 186329183 186329183 single base substitution G A 3_prime_UTR_variant UCEC-US 4 186329183 186329183 single base substitution G A exon_variant UCEC-US 4 186329183 186329183 single base substitution G A missense_variant T241I 722C>T UCEC-US 4 186329183 186329183 single base substitution G A missense_variant T343I 1028C>T UCEC-US 4 186329183 186329183 single base substitution G A missense_variant T71I 212C>T UCEC-US 4 186329183 186329183 single base substitution G A upstream_gene_variant UCEC-US 4 186329436 186329436 single base substitution C A 3_prime_UTR_variant UCEC-US 4 186329436 186329436 single base substitution C A exon_variant UCEC-US 4 186329436 186329436 single base substitution C A stop_gained E227* 679G>T UCEC-US 4 186329436 186329436 single base substitution C A stop_gained E329* 985G>T UCEC-US 4 186329436 186329436 single base substitution C A stop_gained E57* 169G>T UCEC-US 4 186329436 186329436 single base substitution C A upstream_gene_variant UCEC-US 4 186336327 186336327 single base substitution C T 3_prime_UTR_variant UCEC-US 4 186336327 186336327 single base substitution C T downstream_gene_variant UCEC-US 4 186336327 186336327 single base substitution C T exon_variant UCEC-US 4 186336327 186336327 single base substitution C T synonymous_variant Q135Q 405G>A UCEC-US 4 186336327 186336327 single base substitution C T synonymous_variant Q222Q 666G>A UCEC-US 4 186336327 186336327 single base substitution C T upstream_gene_variant UCEC-US 4 186336330 186336330 single base substitution G A 3_prime_UTR_variant UCEC-US 4 186336330 186336330 single base substitution G A downstream_gene_variant UCEC-US 4 186336330 186336330 single base substitution G A exon_variant UCEC-US 4 186336330 186336330 single base substitution G A synonymous_variant G134G 402C>T UCEC-US 4 186336330 186336330 single base substitution G A synonymous_variant G221G 663C>T UCEC-US 4 186336330 186336330 single base substitution G A upstream_gene_variant UCEC-US 4 186336376 186336376 single base substitution T G 3_prime_UTR_variant UCEC-US 4 186336376 186336376 single base substitution T G downstream_gene_variant UCEC-US 4 186336376 186336376 single base substitution T G exon_variant UCEC-US 4 186336376 186336376 single base substitution T G missense_variant K119T 356A>C UCEC-US 4 186336376 186336376 single base substitution T G missense_variant K206T 617A>C UCEC-US 4 186336376 186336376 single base substitution T G upstream_gene_variant UCEC-US 4 186336930 186336930 single base substitution T C 3_prime_UTR_variant UCEC-US 4 186336930 186336930 single base substitution T C downstream_gene_variant UCEC-US 4 186336930 186336930 single base substitution T C exon_variant UCEC-US 4 186336930 186336930 single base substitution T C missense_variant H142R 425A>G UCEC-US 4 186336930 186336930 single base substitution T C missense_variant H55R 164A>G UCEC-US 4 186336930 186336930 single base substitution T C upstream_gene_variant UCEC-US 4 186336936 186336936 single base substitution C T 3_prime_UTR_variant UCEC-US 4 186336936 186336936 single base substitution C T downstream_gene_variant UCEC-US 4 186336936 186336936 single base substitution C T exon_variant UCEC-US 4 186336936 186336936 single base substitution C T missense_variant G140E 419G>A UCEC-US 4 186336936 186336936 single base substitution C T missense_variant G53E 158G>A UCEC-US 4 186336936 186336936 single base substitution C T upstream_gene_variant UCEC-US 4 186336957 186336957 single base substitution A G 3_prime_UTR_variant UCEC-US 4 186336957 186336957 single base substitution A G downstream_gene_variant UCEC-US 4 186336957 186336957 single base substitution A G exon_variant UCEC-US 4 186336957 186336957 single base substitution A G missense_variant I133T 398T>C UCEC-US 4 186336957 186336957 single base substitution A G missense_variant I46T 137T>C UCEC-US 4 186336957 186336957 single base substitution A G upstream_gene_variant UCEC-US 4 186337022 186337022 single base substitution C T intron_variant UCEC-US 4 186337022 186337022 single base substitution C T splice_acceptor_variant UCEC-US 4 186337022 186337022 single base substitution C T upstream_gene_variant UCEC-US 4 186339610 186339610 single base substitution T G 3_prime_UTR_variant UCEC-US 4 186339610 186339610 single base substitution T G exon_variant UCEC-US 4 186339610 186339610 single base substitution T G missense_variant K100N 300A>C UCEC-US 4 186339610 186339610 single base substitution T G missense_variant K106N 318A>C UCEC-US 4 186339610 186339610 single base substitution T G missense_variant K19N 57A>C UCEC-US 4 186339610 186339610 single base substitution T G upstream_gene_variant UCEC-US 4 186339751 186339751 single base substitution G A exon_variant UCEC-US 4 186339751 186339751 single base substitution G A intron_variant UCEC-US 4 186339751 186339751 single base substitution G A missense_variant R80C 238C>T UCEC-US 4 186339751 186339751 single base substitution G A missense_variant R86C 256C>T UCEC-US 4 186339751 186339751 single base substitution G A upstream_gene_variant UCEC-US 4 186339798 186339798 single base substitution G A exon_variant UCEC-US 4 186339798 186339798 single base substitution G A missense_variant T64I 191C>T UCEC-US 4 186339798 186339798 single base substitution G A missense_variant T70I 209C>T UCEC-US 4 186339798 186339798 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand BD124T COSM5491861 c.85A>T p.I29F Substitution - Missense 4:185418768-185418768 - TCGA-21-1070-01 COSM732922 c.654A>G p.I218M Substitution - Missense 4:185415185-185415185 - HX26T COSM3661017 c.860A>G p.Y287C Substitution - Missense 4:185408407-185408407 - RK228_C01 COSM4780326 c.713A>C p.H238P Substitution - Missense 4:185413844-185413844 - GB18 COSM1744686 c.917C>G p.S306C Substitution - Missense 4:185408350-185408350 - TCGA-BR-4255-01 COSM1471723 c.1101G>A p.T367T Substitution - coding silent 4:185407956-185407956 - 353LT COSM4382039 c.832-1G>C p.? Unknown 4:185408436-185408436 - C135 COSM1428889 c.623delA p.N208fs*3 Deletion - Frameshift 4:185415216-185415216 - RW2982 COSM4615084 c.1272delT p.L425fs*1 Deletion - Frameshift 4:185403545-185403545 - 255 COSM3130530 c.881G>A p.R294H Substitution - Missense 4:185408386-185408386 - B60 COSM1753663 c.472C>G p.P158A Substitution - Missense 4:185415729-185415729 - TCGA-IH-A3EA-01 COSM3917531 c.1035C>T p.V345V Substitution - coding silent 4:185408022-185408022 - TCGA-AX-A0J1-01 COSM1053792 c.1028C>T p.T343I Substitution - Missense 4:185408029-185408029 - TCGA-BR-4361-01 COSM4123738 c.1285T>C p.Y429H Substitution - Missense 4:185403532-185403532 - HCC130T COSM3661019 c.194G>A p.S65N Substitution - Missense 4:185418659-185418659 - 19M COSM5579931 c.835T>G p.Y279D Substitution - Missense 4:185408432-185408432 - YUKAT COSM5400944 c.1229G>A p.G410E Substitution - Missense 4:185403588-185403588 - CHC961T COSM4798685 c.645T>G p.P215P Substitution - coding silent 4:185415194-185415194 - TCGA-AP-A059-01 COSM1053799 c.398T>C p.I133T Substitution - Missense 4:185415803-185415803 - TCGA-AP-A056-01 COSM1053800 c.334-1G>A p.? Unknown 4:185415868-185415868 - T578 COSM4739035 c.496C>T p.R166C Substitution - Missense 4:185415343-185415343 - 08-P1004 COSM4584958 c.1135A>G p.I379V Substitution - Missense 4:185405843-185405843 - TCGA-AA-A00N-01 COSM277991 c.620A>C p.K207T Substitution - Missense 4:185415219-185415219 - HX34T COSM3661018 c.334-4A>G p.? Unknown 4:185415871-185415871 - TCGA-AB-2854-03 COSM1319355 c.388G>A p.V130I Substitution - Missense 4:185415813-185415813 - ccRCC-87 COSM1664874 c.784A>G p.R262G Substitution - Missense 4:185413773-185413773 - TCGA-BS-A0UF-01 COSM1053793 c.985G>T p.E329* Substitution - Nonsense 4:185408282-185408282 - TCGA-D1-A17Q-01 COSM1053801 c.318A>C p.K106N Substitution - Missense 4:185418456-185418456 - sysucc-783T COSM5484688 c.644C>A p.P215H Substitution - Missense 4:185415195-185415195 - TCGA-D1-A168-01 COSM1053802 c.256C>T p.R86C Substitution - Missense 4:185418597-185418597 - TCGA-AA-3510-01 COSM277991 c.620A>C p.K207T Substitution - Missense 4:185415219-185415219 - TCGA-06-0174-01 COSM3409198 c.781A>G p.I261V Substitution - Missense 4:185413776-185413776 - TCGA-FP-A4BE-01 COSM4123740 c.497G>A p.R166H Substitution - Missense 4:185415342-185415342 - HDC54 COSM4636467 c.414C>A p.S138R Substitution - Missense 4:185415787-185415787 - C141 COSM4441500 c.109C>A p.H37N Substitution - Missense 4:185418744-185418744 - TCGA-G2-A2ES-01 COSM1309932 c.1201G>A p.G401R Substitution - Missense 4:185403616-185403616 - 391 COSM3724075 c.1291G>A p.G431S Substitution - Missense 4:185403526-185403526 - CHC961T COSM4798685 c.645T>G p.P215P Substitution - coding silent 4:185415194-185415194 - CHEWS008 COSM4584959 c.437T>C p.M146T Substitution - Missense 4:185415764-185415764 - DLD1 COSM1428889 c.623delA p.N208fs*3 Deletion - Frameshift 4:185415216-185415216 - PTC_435 COSM1428888 c.1198G>A p.G400R Substitution - Missense 4:185405780-185405780 - RK26-R1 COSM4411018 c.1179A>C p.E393D Substitution - Missense 4:185405799-185405799 - B60-Tumor COSM1753663 c.472C>G p.P158A Substitution - Missense 4:185415729-185415729 - TCGA-AM-5820-01 COSM3760517 c.528A>G p.Q176Q Substitution - coding silent 4:185415311-185415311 - RK26-R3 COSM4411018 c.1179A>C p.E393D Substitution - Missense 4:185405799-185405799 - LP6005334-DNA_C02 COSM4412469 c.1324-6A>G p.? Unknown 4:185400484-185400484 - LC_S38 COSM1186708 c.1160C>A p.A387D Substitution - Missense 4:185405818-185405818 - TCGA-AN-A046-01 COSM3825607 c.189G>A p.W63* Substitution - Nonsense 4:185418664-185418664 - TCGA-B5-A11E-01 COSM1053798 c.419G>A p.G140E Substitution - Missense 4:185415782-185415782 - RK228_C01 COSM4780317 c.715G>T p.D239Y Substitution - Missense 4:185413842-185413842 - TCGA-D1-A103-01 COSM1053793 c.985G>T p.E329* Substitution - Nonsense 4:185408282-185408282 - PT23_2 COSM5903525 c.1199-6C>T p.? Unknown 4:185403624-185403624 - 438 COSM4434329 c.1290C>T p.T430T Substitution - coding silent 4:185403527-185403527 - TCGA-FU-A3HZ-01 COSM4839913 c.84A>C p.E28D Substitution - Missense 4:185418769-185418769 - LC_C27 COSM1186709 c.616A>C p.K206Q Substitution - Missense 4:185415223-185415223 - TCGA-BR-4357-01 COSM4123739 c.616A>T p.K206* Substitution - Nonsense 4:185415223-185415223 - HN_62739 COSM128432 c.1077A>G p.V359V Substitution - coding silent 4:185407980-185407980 - TCGA-AX-A0J1-01 COSM1053803 c.209C>T p.T70I Substitution - Missense 4:185418644-185418644 - BCM269T COSM4951603 c.604T>G p.L202V Substitution - Missense 4:185415235-185415235 - HCC130 COSM3661019 c.194G>A p.S65N Substitution - Missense 4:185418659-185418659 - sysucc-1397T COSM5474690 c.367A>T p.M123L Substitution - Missense 4:185415834-185415834 - BK0052 COSM4188074 c.893A>G p.N298S Substitution - Missense 4:185408374-185408374 - TCGA-EE-A2MS-06 COSM3602472 c.1095T>C p.G365G Substitution - coding silent 4:185407962-185407962 - BCM269T COSM4951603 c.604T>G p.L202V Substitution - Missense 4:185415235-185415235 - TCGA-A5-A0R6-01 COSM1053804 c.145A>G p.N49D Substitution - Missense 4:185418708-185418708 - TCGA-AX-A05Z-01 COSM1053796 c.617A>C p.K206T Substitution - Missense 4:185415222-185415222 - TCGA-EI-6917-01 COSM3428382 c.715G>A p.D239N Substitution - Missense 4:185413842-185413842 - TCGA-AH-6547-01 COSM1428889 c.623delA p.N208fs*3 Deletion - Frameshift 4:185415216-185415216 - TCGA-AP-A05N-01 COSM1053795 c.663C>T p.G221G Substitution - coding silent 4:185415176-185415176 - Pat_41_B COSM5866133 c.469G>A p.A157T Substitution - Missense 4:185415732-185415732 - TCGA-AG-A002-01 COSM264534 c.1322_1323insA p.W443fs*17 Insertion - Frameshift 4:185403494-185403495 - Case2 COSM1579182 c.1142C>G p.S381C Substitution - Missense 4:185405836-185405836 - TCGA-AD-6889-01 COSM1428888 c.1198G>A p.G400R Substitution - Missense 4:185405780-185405780 - TCGA-AP-A051-01 COSM1053797 c.425A>G p.H142R Substitution - Missense 4:185415776-185415776 - RK26-R4 COSM4411018 c.1179A>C p.E393D Substitution - Missense 4:185405799-185405799 - TCGA-P4-A5E7-01 COSM3409198 c.781A>G p.I261V Substitution - Missense 4:185413776-185413776 - TCGA-D3-A51T-06 COSM3602473 c.403G>A p.E135K Substitution - Missense 4:185415798-185415798 - TCGA-AX-A0J0-01 COSM1053794 c.666G>A p.Q222Q Substitution - coding silent 4:185415173-185415173 - TCGA-AP-A0LM-01 COSM1053791 c.1159G>T p.A387S Substitution - Missense 4:185405819-185405819 - TCGA-46-3767-01 COSM732921 c.30C>G p.L10L Substitution - coding silent 4:185422537-185422537 - TCGA-BH-A2L8-01 COSM3602473 c.403G>A p.E135K Substitution - Missense 4:185415798-185415798 - TCGA-BT-A20Q-01 COSM420639 c.712C>A p.H238N Substitution - Missense 4:185413845-185413845 - B15-Tumor COSM4005717 c.1139C>T p.A380V Substitution - Missense 4:185405839-185405839 - RK26-R2 COSM4411018 c.1179A>C p.E393D Substitution - Missense 4:185405799-185405799 - 353T COSM4382039 c.832-1G>C p.? Unknown 4:185408436-185408436 - LC_S6 COSM1190764 c.187_188delTG p.W63fs*2 Deletion - Frameshift 4:185418665-185418666 - ccRCC-53 COSM1664873 c.1167T>A p.H389Q Substitution - Missense 4:185405811-185405811 - TCGA-HI-7169-01 COSM1471723 c.1101G>A p.T367T Substitution - coding silent 4:185407956-185407956 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.713548 4q35.1 611482

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.G365G c.1095T>C 4 186329116 CM C G Missense p.G205R c.613G>C 4 186336380 CM C T IntronicSNV . c.1122-46G>A 4 186327056 ESCA C T Missense p.G401R c.1201G>A 4 186324770 BLCA C T Synonymous p.T367T c.1101G>A 4 186329110 PRAD C T Synonymous p.T367T c.1101G>A 4 186329110 STAD G A Missense p.R86C c.256C>T 4 186339751 UCEC G A Synonymous p.G221G c.663C>T 4 186336330 UCEC G A Synonymous p.V345V c.1035C>T 4 186329176 CM G C Synonymous p.L10L c.30C>G 4 186343691 LUSC G T Missense p.H238N c.712C>A 4 186334999 BLCA G T Synonymous p.T70T c.210C>A 4 186339797 LUAD T A Nonsense p.K206* c.616A>T 4 186336377 STAD T C Missense p.I218M c.654A>G 4 186336339 LUSC T C Missense p.I261V c.781A>G 4 186334930 GBM T C Synonymous p.V359V c.1077A>G 4 186329134 HNSC T - Frameshift p.N208Ifs*3 c.623delA 4 186336370 STAD - TG Frameshift p.G352Afs*10 c.1054_1055insCA 4 186329156 BLCA