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 BRCA 1 20220921 20220921 + Missense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr1:20220921G>T c.431G>T c.(430-432)aGa>aTa p.R144I BRCA 1 20224047 20224047 + Silent SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr1:20224047G>A c.498G>A c.(496-498)gaG>gaA p.E166E CESC 1 20216933 20216933 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr1:20216933C>G c.277C>G c.(277-279)Ctc>Gtc p.L93V CESC 1 20230837 20230837 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr1:20230837G>A c.684G>A c.(682-684)ctG>ctA p.L228L CESC 1 20234066 20234069 + Frame_Shift_Del DEL ACAA ACAA - TCGA-C5-A1BE-01B-11D-A13W-08 TCGA-C5-A1BE-10A-01D-A13W-08 g.chr1:20234066_20234069delACAA c.1024_1027delACAA c.(1024-1029)acaaacfs p.TN342fs CESC 1 20234122 20234122 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr1:20234122G>C c.1080G>C c.(1078-1080)gaG>gaC p.E360D COAD 1 20230832 20230832 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr1:20230832G>A c.679G>A c.(679-681)Gac>Aac p.D227N COAD 1 20230876 20230876 + Silent SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr1:20230876T>C c.723T>C c.(721-723)aaT>aaC p.N241N COAD 1 20231475 20231475 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:20231475G>T c.830G>T c.(829-831)aGa>aTa p.R277I COAD 1 20234129 20234129 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:20234129C>T c.1087C>T c.(1087-1089)Cgc>Tgc p.R363C COADREAD 1 20230832 20230832 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr1:20230832G>A c.679G>A c.(679-681)Gac>Aac p.D227N COADREAD 1 20230876 20230876 + Silent SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr1:20230876T>C c.723T>C c.(721-723)aaT>aaC p.N241N COADREAD 1 20231475 20231475 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:20231475G>T c.830G>T c.(829-831)aGa>aTa p.R277I COADREAD 1 20231475 20231475 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:20231475G>T c.830G>T c.(829-831)aGa>aTa p.R277I COADREAD 1 20234129 20234129 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:20234129C>T c.1087C>T c.(1087-1089)Cgc>Tgc p.R363C GBMLGG 1 20216922 20216923 + Frame_Shift_Ins INS - - A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 g.chr1:20216922_20216923insA c.266_267insA c.(265-270)tcacgafs p.R90fs GBMLGG 1 20224082 20224082 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:20224082G>A c.533G>A c.(532-534)cGg>cAg p.R178Q GBMLGG 1 20231450 20231450 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:20231450G>A c.805G>A c.(805-807)Gtg>Atg p.V269M GBMLGG 1 20234222 20234222 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:20234222G>A c.1180G>A c.(1180-1182)Gcc>Acc p.A394T KIPAN 1 20220906 20220906 + Missense_Mutation SNP T T C TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr1:20220906T>C c.416T>C c.(415-417)aTt>aCt p.I139T KIPAN 1 20220910 20220910 + Silent SNP A A G TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr1:20220910A>G c.420A>G c.(418-420)gtA>gtG p.V140V KIPAN 1 20224088 20224088 + Missense_Mutation SNP G G T TCGA-BP-4964-01A-01D-1462-08 TCGA-BP-4964-11A-01D-1462-08 g.chr1:20224088G>T c.539G>T c.(538-540)gGa>gTa p.G180V KIPAN 1 20233031 20233031 + Silent SNP T T C TCGA-HE-A5NF-01A-11D-A26P-10 TCGA-HE-A5NF-10A-01D-A26P-10 g.chr1:20233031T>C c.942T>C c.(940-942)aaT>aaC p.N314N KIPAN 1 20233044 20233044 + Missense_Mutation SNP G G A TCGA-2Z-A9JO-01A-11D-A42J-10 TCGA-2Z-A9JO-10A-01D-A42M-10 g.chr1:20233044G>A c.955G>A c.(955-957)Gaa>Aaa p.E319K KIPAN 1 20233088 20233088 + Silent SNP A A G TCGA-B0-5400-01A-01D-1501-10 TCGA-B0-5400-11A-01D-1501-10 g.chr1:20233088A>G c.999A>G c.(997-999)gcA>gcG p.A333A KIRC 1 20224088 20224088 + Missense_Mutation SNP G G T TCGA-BP-4964-01A-01D-1462-08 TCGA-BP-4964-11A-01D-1462-08 g.chr1:20224088G>T c.539G>T c.(538-540)gGa>gTa p.G180V KIRC 1 20233088 20233088 + Silent SNP A A G TCGA-B0-5400-01A-01D-1501-10 TCGA-B0-5400-11A-01D-1501-10 g.chr1:20233088A>G c.999A>G c.(997-999)gcA>gcG p.A333A KIRP 1 20220906 20220906 + Missense_Mutation SNP T T C TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr1:20220906T>C c.416T>C c.(415-417)aTt>aCt p.I139T KIRP 1 20220910 20220910 + Silent SNP A A G TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr1:20220910A>G c.420A>G c.(418-420)gtA>gtG p.V140V KIRP 1 20233031 20233031 + Silent SNP T T C TCGA-HE-A5NF-01A-11D-A26P-10 TCGA-HE-A5NF-10A-01D-A26P-10 g.chr1:20233031T>C c.942T>C c.(940-942)aaT>aaC p.N314N KIRP 1 20233044 20233044 + Missense_Mutation SNP G G A TCGA-2Z-A9JO-01A-11D-A42J-10 TCGA-2Z-A9JO-10A-01D-A42M-10 g.chr1:20233044G>A c.955G>A c.(955-957)Gaa>Aaa p.E319K LGG 1 20216922 20216923 + Frame_Shift_Ins INS - - A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 g.chr1:20216922_20216923insA c.266_267insA c.(265-270)tcacgafs p.R90fs LGG 1 20224082 20224082 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:20224082G>A c.533G>A c.(532-534)cGg>cAg p.R178Q LGG 1 20231450 20231450 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:20231450G>A c.805G>A c.(805-807)Gtg>Atg p.V269M LGG 1 20234222 20234222 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:20234222G>A c.1180G>A c.(1180-1182)Gcc>Acc p.A394T LIHC 1 20224100 20224100 + Missense_Mutation SNP A A G TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr1:20224100A>G c.551A>G c.(550-552)gAc>gGc p.D184G LUAD 1 20216956 20216956 + Silent SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 g.chr1:20216956G>T c.300G>T c.(298-300)gtG>gtT p.V100V LUAD 1 20220953 20220953 + Frame_Shift_Del DEL C C - TCGA-99-8025-01A-11D-2238-08 TCGA-99-8025-10A-01D-2238-08 g.chr1:20220953delC c.463delC c.(463-465)cttfs p.L155fs PAAD 1 20216981 20216981 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:20216981G>T c.325G>T c.(325-327)Gat>Tat p.D109Y PCPG 1 20232993 20232993 + Missense_Mutation SNP G G A TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 g.chr1:20232993G>A c.904G>A c.(904-906)Ggc>Agc p.G302S PRAD 1 20220882 20220882 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:20220882G>A c.392G>A c.(391-393)gGt>gAt p.G131D PRAD 1 20220960 20220960 + Missense_Mutation SNP C C T TCGA-KK-A7B1-01A-11D-A32B-08 TCGA-KK-A7B1-11A-12D-A329-08 g.chr1:20220960C>T c.470C>T c.(469-471)gCc>gTc p.A157V READ 1 20231475 20231475 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:20231475G>T c.830G>T c.(829-831)aGa>aTa p.R277I SKCM 1 20216943 20216943 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:20216943G>A c.287G>A c.(286-288)aGa>aAa p.R96K SKCM 1 20231456 20231456 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr1:20231456C>T c.811C>T c.(811-813)Cgg>Tgg p.R271W

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 1 20224145 20224145 single base substitution T C exon_variant BLCA-CN 1 20224145 20224145 single base substitution T C missense_variant L199P 596T>C BRCA-EU 1 20204241 20204241 single base substitution T C upstream_gene_variant BRCA-EU 1 20204703 20204703 single base substitution G A upstream_gene_variant BRCA-EU 1 20205379 20205379 single base substitution C T upstream_gene_variant BRCA-EU 1 20208711 20208711 single base substitution C G upstream_gene_variant BRCA-EU 1 20208809 20208809 single base substitution G T upstream_gene_variant BRCA-EU 1 20216317 20216317 single base substitution C T intron_variant BRCA-EU 1 20216317 20216317 single base substitution C T upstream_gene_variant BRCA-EU 1 20216999 20216999 single base substitution G A exon_variant BRCA-EU 1 20216999 20216999 single base substitution G A missense_variant E115K 343G>A BRCA-EU 1 20217073 20217073 single base substitution G C intron_variant BRCA-EU 1 20217782 20217782 single base substitution C G intron_variant BRCA-EU 1 20219117 20219117 single base substitution C G intron_variant BRCA-EU 1 20219838 20219838 single base substitution C T intron_variant BRCA-EU 1 20221161 20221161 single base substitution C T intron_variant BRCA-EU 1 20222170 20222170 single base substitution C T intron_variant BRCA-EU 1 20223237 20223237 single base substitution G C intron_variant BRCA-EU 1 20224127 20224127 single base substitution C T exon_variant BRCA-EU 1 20224127 20224127 single base substitution C T missense_variant S193L 578C>T BRCA-EU 1 20224180 20224180 single base substitution C T exon_variant BRCA-EU 1 20224180 20224180 single base substitution C T intron_variant BRCA-EU 1 20224954 20224954 single base substitution G A downstream_gene_variant BRCA-EU 1 20224954 20224954 single base substitution G A intron_variant BRCA-EU 1 20227995 20227995 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 20227995 20227995 deletion of <=200bp T - intron_variant BRCA-EU 1 20229052 20229052 single base substitution T G downstream_gene_variant BRCA-EU 1 20229052 20229052 single base substitution T G intron_variant BRCA-EU 1 20229052 20229052 single base substitution T G upstream_gene_variant BRCA-EU 1 20229240 20229240 single base substitution C G downstream_gene_variant BRCA-EU 1 20229240 20229240 single base substitution C G intron_variant BRCA-EU 1 20229240 20229240 single base substitution C G upstream_gene_variant BRCA-EU 1 20229395 20229395 single base substitution C G intron_variant BRCA-EU 1 20229395 20229395 single base substitution C G upstream_gene_variant BRCA-EU 1 20231479 20231479 single base substitution T C splice_region_variant BRCA-EU 1 20231479 20231479 single base substitution T C upstream_gene_variant BRCA-EU 1 20231626 20231626 deletion of <=200bp T - intron_variant BRCA-EU 1 20231626 20231626 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 20232234 20232234 deletion of <=200bp A - intron_variant BRCA-EU 1 20232234 20232234 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 20233570 20233570 single base substitution G A downstream_gene_variant BRCA-EU 1 20233570 20233570 single base substitution G A intron_variant BRCA-EU 1 20235580 20235580 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 20235580 20235580 single base substitution C G downstream_gene_variant BRCA-EU 1 20237394 20237394 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 20237394 20237394 single base substitution C T downstream_gene_variant BRCA-EU 1 20238211 20238211 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 20238211 20238211 single base substitution G C downstream_gene_variant BRCA-EU 1 20239391 20239391 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 20239955 20239955 single base substitution C T downstream_gene_variant BRCA-EU 1 20241690 20241690 single base substitution C G downstream_gene_variant BRCA-EU 1 20242804 20242806 deletion of <=200bp TGA - downstream_gene_variant BRCA-EU 1 20243605 20243605 single base substitution A T downstream_gene_variant BRCA-FR 1 20219117 20219117 single base substitution C G intron_variant BRCA-FR 1 20223237 20223237 single base substitution G C intron_variant BRCA-FR 1 20224377 20224377 single base substitution T C downstream_gene_variant BRCA-FR 1 20224377 20224377 single base substitution T C intron_variant BRCA-FR 1 20229052 20229052 single base substitution T G downstream_gene_variant BRCA-FR 1 20229052 20229052 single base substitution T G intron_variant BRCA-FR 1 20229052 20229052 single base substitution T G upstream_gene_variant BRCA-UK 1 20224180 20224180 single base substitution C T exon_variant BRCA-UK 1 20224180 20224180 single base substitution C T intron_variant BRCA-US 1 20220921 20220921 single base substitution G T exon_variant BRCA-US 1 20220921 20220921 single base substitution G T missense_variant R144I 431G>T BRCA-US 1 20224047 20224047 single base substitution G A exon_variant BRCA-US 1 20224047 20224047 single base substitution G A synonymous_variant E166E 498G>A BRCA-US 1 20224226 20224226 single base substitution C T exon_variant BRCA-US 1 20224226 20224226 single base substitution C T intron_variant CESC-US 1 20216933 20216933 single base substitution C G missense_variant L93V 277C>G CESC-US 1 20216933 20216933 single base substitution C G upstream_gene_variant CESC-US 1 20230837 20230837 single base substitution G A synonymous_variant L228L 684G>A CESC-US 1 20230837 20230837 single base substitution G A upstream_gene_variant CESC-US 1 20234066 20234069 deletion of <=200bp ACAA - downstream_gene_variant CESC-US 1 20234066 20234069 deletion of <=200bp ACAA - frameshift_variant TN342 CESC-US 1 20234122 20234122 single base substitution G C downstream_gene_variant CESC-US 1 20234122 20234122 single base substitution G C missense_variant E360D 1080G>C CLLE-ES 1 20212051 20212051 single base substitution A G intron_variant CLLE-ES 1 20212051 20212051 single base substitution A G upstream_gene_variant COAD-US 1 20230876 20230876 single base substitution T C synonymous_variant N241N 723T>C COAD-US 1 20230876 20230876 single base substitution T C upstream_gene_variant COCA-CN 1 20216828 20216828 single base substitution G A intron_variant COCA-CN 1 20216828 20216828 single base substitution G A upstream_gene_variant COCA-CN 1 20232792 20232792 single base substitution G A intron_variant COCA-CN 1 20232792 20232792 single base substitution G A upstream_gene_variant ESAD-UK 1 20205116 20205116 single base substitution G A upstream_gene_variant ESAD-UK 1 20206137 20206137 single base substitution C A upstream_gene_variant ESAD-UK 1 20207318 20207318 single base substitution C T upstream_gene_variant ESAD-UK 1 20207860 20207860 single base substitution A T upstream_gene_variant ESAD-UK 1 20207953 20207953 single base substitution G T upstream_gene_variant ESAD-UK 1 20213107 20213107 single base substitution A T intron_variant ESAD-UK 1 20213107 20213107 single base substitution A T upstream_gene_variant ESAD-UK 1 20215605 20215605 single base substitution C T intron_variant ESAD-UK 1 20215605 20215605 single base substitution C T upstream_gene_variant ESAD-UK 1 20218283 20218283 single base substitution G C intron_variant ESAD-UK 1 20222642 20222642 single base substitution C T intron_variant ESAD-UK 1 20227592 20227592 single base substitution G A downstream_gene_variant ESAD-UK 1 20227592 20227592 single base substitution G A intron_variant ESAD-UK 1 20229641 20229641 single base substitution A C intron_variant ESAD-UK 1 20229641 20229641 single base substitution A C upstream_gene_variant ESAD-UK 1 20237637 20237637 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 20237637 20237637 single base substitution G A downstream_gene_variant ESAD-UK 1 20237951 20237951 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 20237951 20237951 single base substitution C T downstream_gene_variant ESAD-UK 1 20238392 20238392 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 20238392 20238392 single base substitution G A downstream_gene_variant ESAD-UK 1 20238393 20238393 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 20238393 20238393 single base substitution G A downstream_gene_variant ESAD-UK 1 20240425 20240425 single base substitution C T downstream_gene_variant KIRC-US 1 20224088 20224088 single base substitution G T exon_variant KIRC-US 1 20224088 20224088 single base substitution G T missense_variant G180V 539G>T KIRC-US 1 20233088 20233088 single base substitution A G exon_variant KIRC-US 1 20233088 20233088 single base substitution A G synonymous_variant A333A 999A>G KIRP-US 1 20233031 20233031 single base substitution T C synonymous_variant N314N 942T>C KIRP-US 1 20233031 20233031 single base substitution T C upstream_gene_variant LGG-US 1 20216922 20216922 insertion of <=200bp - A frameshift_variant S89Y? LGG-US 1 20216922 20216922 insertion of <=200bp - A upstream_gene_variant LICA-FR 1 20209135 20209135 single base substitution T C synonymous_variant S43S 129T>C LIHC-US 1 20224100 20224100 single base substitution A G exon_variant LIHC-US 1 20224100 20224100 single base substitution A G missense_variant D184G 551A>G LIHC-US 1 20234091 20234091 single base substitution A G downstream_gene_variant LIHC-US 1 20234091 20234091 single base substitution A G missense_variant Q350R 1049A>G LINC-JP 1 20205275 20205275 single base substitution C G upstream_gene_variant LINC-JP 1 20217037 20217037 single base substitution T C intron_variant LINC-JP 1 20221014 20221022 deletion of <=200bp CTAAGTCAG - intron_variant LIRI-JP 1 20204444 20204444 single base substitution C T upstream_gene_variant LIRI-JP 1 20205259 20205259 single base substitution A G upstream_gene_variant LIRI-JP 1 20205623 20205623 single base substitution G T upstream_gene_variant LIRI-JP 1 20205624 20205624 single base substitution A T upstream_gene_variant LIRI-JP 1 20206009 20206009 single base substitution G C upstream_gene_variant LIRI-JP 1 20210493 20210493 single base substitution G A intron_variant LIRI-JP 1 20211132 20211132 single base substitution A G intron_variant LIRI-JP 1 20213596 20213596 single base substitution A G intron_variant LIRI-JP 1 20213596 20213596 single base substitution A G upstream_gene_variant LIRI-JP 1 20218791 20218791 single base substitution T C intron_variant LIRI-JP 1 20223675 20223675 single base substitution A C intron_variant LIRI-JP 1 20225130 20225130 single base substitution A T downstream_gene_variant LIRI-JP 1 20225130 20225130 single base substitution A T intron_variant LIRI-JP 1 20225352 20225352 single base substitution G A downstream_gene_variant LIRI-JP 1 20225352 20225352 single base substitution G A intron_variant LIRI-JP 1 20231767 20231767 deletion of <=200bp A - intron_variant LIRI-JP 1 20231767 20231767 deletion of <=200bp A - upstream_gene_variant LIRI-JP 1 20233212 20233212 single base substitution T C intron_variant LIRI-JP 1 20238276 20238276 insertion of <=200bp - T 3_prime_UTR_variant LIRI-JP 1 20238276 20238276 insertion of <=200bp - T downstream_gene_variant LIRI-JP 1 20238413 20238413 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 20238413 20238413 single base substitution A G downstream_gene_variant LIRI-JP 1 20238759 20238759 single base substitution C T 3_prime_UTR_variant LIRI-JP 1 20243423 20243423 single base substitution T C downstream_gene_variant LIRI-JP 1 20243879 20243879 single base substitution C T downstream_gene_variant LUSC-KR 1 20208825 20208825 single base substitution C G upstream_gene_variant LUSC-KR 1 20217504 20217504 single base substitution G C intron_variant LUSC-KR 1 20230669 20230669 single base substitution A T intron_variant LUSC-KR 1 20230669 20230669 single base substitution A T upstream_gene_variant LUSC-KR 1 20242077 20242077 single base substitution G T downstream_gene_variant MALY-DE 1 20204637 20204637 single base substitution T G upstream_gene_variant MALY-DE 1 20207494 20207494 single base substitution T C upstream_gene_variant MALY-DE 1 20231875 20231875 single base substitution T G intron_variant MALY-DE 1 20231875 20231875 single base substitution T G upstream_gene_variant MALY-DE 1 20236347 20236347 single base substitution G A 3_prime_UTR_variant MALY-DE 1 20236347 20236347 single base substitution G A downstream_gene_variant MELA-AU 1 20204128 20204128 single base substitution A T upstream_gene_variant MELA-AU 1 20204269 20204269 single base substitution C T upstream_gene_variant MELA-AU 1 20204277 20204277 single base substitution G A upstream_gene_variant MELA-AU 1 20204915 20204915 single base substitution C T upstream_gene_variant MELA-AU 1 20205058 20205058 single base substitution C T upstream_gene_variant MELA-AU 1 20205631 20205631 single base substitution G T upstream_gene_variant MELA-AU 1 20205880 20205880 deletion of <=200bp A - upstream_gene_variant MELA-AU 1 20206175 20206175 single base substitution C T upstream_gene_variant MELA-AU 1 20206217 20206217 single base substitution A G upstream_gene_variant MELA-AU 1 20206353 20206353 single base substitution C T upstream_gene_variant MELA-AU 1 20206562 20206562 single base substitution A T upstream_gene_variant MELA-AU 1 20206998 20206998 single base substitution G A upstream_gene_variant MELA-AU 1 20207468 20207468 single base substitution A C upstream_gene_variant MELA-AU 1 20207560 20207560 single base substitution G A upstream_gene_variant MELA-AU 1 20207588 20207588 single base substitution G A upstream_gene_variant MELA-AU 1 20207908 20207908 single base substitution G A upstream_gene_variant MELA-AU 1 20208026 20208026 single base substitution C T upstream_gene_variant MELA-AU 1 20208225 20208225 single base substitution G A upstream_gene_variant MELA-AU 1 20208292 20208292 single base substitution C T upstream_gene_variant MELA-AU 1 20208314 20208314 single base substitution G A upstream_gene_variant MELA-AU 1 20208841 20208841 single base substitution G A upstream_gene_variant MELA-AU 1 20209869 20209869 single base substitution G A intron_variant MELA-AU 1 20210060 20210060 single base substitution C T intron_variant MELA-AU 1 20210162 20210162 single base substitution G C intron_variant MELA-AU 1 20210868 20210868 single base substitution C T intron_variant MELA-AU 1 20212654 20212654 single base substitution C T intron_variant MELA-AU 1 20212654 20212654 single base substitution C T upstream_gene_variant MELA-AU 1 20213673 20213673 single base substitution G A intron_variant MELA-AU 1 20213673 20213673 single base substitution G A upstream_gene_variant MELA-AU 1 20214358 20214358 single base substitution C T intron_variant MELA-AU 1 20214358 20214358 single base substitution C T upstream_gene_variant MELA-AU 1 20215643 20215643 single base substitution C T intron_variant MELA-AU 1 20215643 20215643 single base substitution C T upstream_gene_variant MELA-AU 1 20215925 20215925 single base substitution G C intron_variant MELA-AU 1 20215925 20215925 single base substitution G C upstream_gene_variant MELA-AU 1 20218989 20218989 single base substitution A C intron_variant MELA-AU 1 20219229 20219229 single base substitution C T intron_variant MELA-AU 1 20219357 20219357 single base substitution G A intron_variant MELA-AU 1 20220066 20220066 single base substitution A G intron_variant MELA-AU 1 20220678 20220678 single base substitution T A intron_variant MELA-AU 1 20222416 20222416 single base substitution T A intron_variant MELA-AU 1 20222419 20222419 single base substitution C T intron_variant MELA-AU 1 20222860 20222860 single base substitution C T intron_variant MELA-AU 1 20223351 20223351 single base substitution C T intron_variant MELA-AU 1 20223631 20223631 single base substitution T C intron_variant MELA-AU 1 20223701 20223702 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 20223975 20223975 single base substitution C T intron_variant MELA-AU 1 20224074 20224074 single base substitution C T exon_variant MELA-AU 1 20224074 20224074 single base substitution C T synonymous_variant I175I 525C>T MELA-AU 1 20224316 20224316 single base substitution G C downstream_gene_variant MELA-AU 1 20224316 20224316 single base substitution G C intron_variant MELA-AU 1 20224342 20224342 single base substitution A C downstream_gene_variant MELA-AU 1 20224342 20224342 single base substitution A C intron_variant MELA-AU 1 20224520 20224520 single base substitution C T downstream_gene_variant MELA-AU 1 20224520 20224520 single base substitution C T intron_variant MELA-AU 1 20225546 20225546 single base substitution C T downstream_gene_variant MELA-AU 1 20225546 20225546 single base substitution C T intron_variant MELA-AU 1 20225742 20225742 single base substitution T C downstream_gene_variant MELA-AU 1 20225742 20225742 single base substitution T C intron_variant MELA-AU 1 20226598 20226598 single base substitution C T downstream_gene_variant MELA-AU 1 20226598 20226598 single base substitution C T intron_variant MELA-AU 1 20226760 20226760 single base substitution G A downstream_gene_variant MELA-AU 1 20226760 20226760 single base substitution G A intron_variant MELA-AU 1 20227173 20227173 single base substitution C T downstream_gene_variant MELA-AU 1 20227173 20227173 single base substitution C T intron_variant MELA-AU 1 20227211 20227211 single base substitution G T downstream_gene_variant MELA-AU 1 20227211 20227211 single base substitution G T intron_variant MELA-AU 1 20227224 20227224 single base substitution C T downstream_gene_variant MELA-AU 1 20227224 20227224 single base substitution C T intron_variant MELA-AU 1 20227490 20227490 single base substitution C T downstream_gene_variant MELA-AU 1 20227490 20227490 single base substitution C T intron_variant MELA-AU 1 20228153 20228153 single base substitution C T downstream_gene_variant MELA-AU 1 20228153 20228153 single base substitution C T intron_variant MELA-AU 1 20228153 20228153 single base substitution C T upstream_gene_variant MELA-AU 1 20228268 20228268 single base substitution T A downstream_gene_variant MELA-AU 1 20228268 20228268 single base substitution T A intron_variant MELA-AU 1 20228268 20228268 single base substitution T A upstream_gene_variant MELA-AU 1 20228340 20228340 single base substitution C T downstream_gene_variant MELA-AU 1 20228340 20228340 single base substitution C T intron_variant MELA-AU 1 20228340 20228340 single base substitution C T upstream_gene_variant MELA-AU 1 20228617 20228617 single base substitution C T downstream_gene_variant MELA-AU 1 20228617 20228617 single base substitution C T intron_variant MELA-AU 1 20228617 20228617 single base substitution C T upstream_gene_variant MELA-AU 1 20228632 20228632 single base substitution A C downstream_gene_variant MELA-AU 1 20228632 20228632 single base substitution A C intron_variant MELA-AU 1 20228632 20228632 single base substitution A C upstream_gene_variant MELA-AU 1 20228736 20228736 single base substitution C T downstream_gene_variant MELA-AU 1 20228736 20228736 single base substitution C T intron_variant MELA-AU 1 20228736 20228736 single base substitution C T upstream_gene_variant MELA-AU 1 20229770 20229770 single base substitution C T intron_variant MELA-AU 1 20229770 20229770 single base substitution C T upstream_gene_variant MELA-AU 1 20229875 20229875 single base substitution C T intron_variant MELA-AU 1 20229875 20229875 single base substitution C T upstream_gene_variant MELA-AU 1 20229920 20229920 single base substitution C T intron_variant MELA-AU 1 20229920 20229920 single base substitution C T upstream_gene_variant MELA-AU 1 20230414 20230414 single base substitution C T intron_variant MELA-AU 1 20230414 20230414 single base substitution C T upstream_gene_variant MELA-AU 1 20230741 20230741 single base substitution T C intron_variant MELA-AU 1 20230741 20230741 single base substitution T C upstream_gene_variant MELA-AU 1 20232609 20232609 single base substitution T A intron_variant MELA-AU 1 20232609 20232609 single base substitution T A upstream_gene_variant MELA-AU 1 20232992 20232992 single base substitution T G synonymous_variant G301G 903T>G MELA-AU 1 20232992 20232992 single base substitution T G upstream_gene_variant MELA-AU 1 20233583 20233583 single base substitution C T downstream_gene_variant MELA-AU 1 20233583 20233583 single base substitution C T intron_variant MELA-AU 1 20233760 20233760 single base substitution C T downstream_gene_variant MELA-AU 1 20233760 20233760 single base substitution C T intron_variant MELA-AU 1 20234251 20234251 single base substitution C T 3_prime_UTR_variant MELA-AU 1 20234251 20234251 single base substitution C T downstream_gene_variant MELA-AU 1 20235827 20235827 single base substitution C T 3_prime_UTR_variant MELA-AU 1 20235827 20235827 single base substitution C T downstream_gene_variant MELA-AU 1 20236913 20236913 single base substitution C T 3_prime_UTR_variant MELA-AU 1 20236913 20236913 single base substitution C T downstream_gene_variant MELA-AU 1 20237138 20237138 single base substitution T G 3_prime_UTR_variant MELA-AU 1 20237138 20237138 single base substitution T G downstream_gene_variant MELA-AU 1 20237275 20237275 single base substitution C T 3_prime_UTR_variant MELA-AU 1 20237275 20237275 single base substitution C T downstream_gene_variant MELA-AU 1 20237276 20237276 single base substitution C T 3_prime_UTR_variant MELA-AU 1 20237276 20237276 single base substitution C T downstream_gene_variant MELA-AU 1 20237467 20237467 single base substitution C T 3_prime_UTR_variant MELA-AU 1 20237467 20237467 single base substitution C T downstream_gene_variant MELA-AU 1 20237560 20237560 single base substitution G A 3_prime_UTR_variant MELA-AU 1 20237560 20237560 single base substitution G A downstream_gene_variant MELA-AU 1 20238081 20238081 single base substitution C T 3_prime_UTR_variant MELA-AU 1 20238081 20238081 single base substitution C T downstream_gene_variant MELA-AU 1 20239191 20239191 single base substitution C T 3_prime_UTR_variant MELA-AU 1 20239561 20239561 single base substitution G A downstream_gene_variant MELA-AU 1 20239777 20239777 single base substitution T C downstream_gene_variant MELA-AU 1 20240002 20240002 single base substitution C T downstream_gene_variant MELA-AU 1 20241033 20241033 single base substitution A G downstream_gene_variant MELA-AU 1 20241724 20241724 single base substitution C T downstream_gene_variant MELA-AU 1 20241766 20241766 single base substitution G A downstream_gene_variant MELA-AU 1 20242163 20242163 single base substitution G A downstream_gene_variant MELA-AU 1 20242231 20242231 single base substitution C T downstream_gene_variant MELA-AU 1 20242240 20242240 single base substitution C T downstream_gene_variant MELA-AU 1 20242322 20242322 single base substitution C T downstream_gene_variant MELA-AU 1 20242404 20242404 single base substitution T C downstream_gene_variant MELA-AU 1 20242486 20242486 single base substitution C T downstream_gene_variant MELA-AU 1 20242897 20242897 single base substitution C T downstream_gene_variant MELA-AU 1 20244019 20244019 single base substitution C T downstream_gene_variant MELA-AU 1 20244390 20244390 single base substitution C T downstream_gene_variant ORCA-IN 1 20219399 20219399 single base substitution C A intron_variant OV-AU 1 20206812 20206812 single base substitution G A upstream_gene_variant OV-AU 1 20207477 20207477 single base substitution G T upstream_gene_variant OV-AU 1 20208201 20208201 single base substitution C T upstream_gene_variant OV-AU 1 20208377 20208377 single base substitution G T upstream_gene_variant OV-AU 1 20211437 20211437 single base substitution A T intron_variant OV-AU 1 20217373 20217373 single base substitution G A intron_variant OV-AU 1 20223257 20223257 single base substitution C T intron_variant OV-AU 1 20230714 20230714 single base substitution G A intron_variant OV-AU 1 20230714 20230714 single base substitution G A upstream_gene_variant OV-AU 1 20232210 20232210 single base substitution G T intron_variant OV-AU 1 20232210 20232210 single base substitution G T upstream_gene_variant OV-AU 1 20238742 20238742 single base substitution C G 3_prime_UTR_variant PACA-AU 1 20204058 20204058 single base substitution C T upstream_gene_variant PACA-AU 1 20206279 20206279 single base substitution A T upstream_gene_variant PACA-AU 1 20207281 20207281 single base substitution G A upstream_gene_variant PACA-AU 1 20216050 20216050 single base substitution A G intron_variant PACA-AU 1 20216050 20216050 single base substitution A G upstream_gene_variant PACA-AU 1 20222067 20222067 single base substitution C T intron_variant PACA-AU 1 20224278 20224278 single base substitution C T exon_variant PACA-AU 1 20224278 20224278 single base substitution C T intron_variant PACA-AU 1 20243889 20243889 single base substitution G A downstream_gene_variant PACA-CA 1 20205451 20205451 single base substitution G A upstream_gene_variant PACA-CA 1 20207870 20207870 single base substitution T A upstream_gene_variant PACA-CA 1 20208817 20208817 single base substitution G A upstream_gene_variant PACA-CA 1 20213107 20213107 single base substitution A T intron_variant PACA-CA 1 20213107 20213107 single base substitution A T upstream_gene_variant PACA-CA 1 20226583 20226583 single base substitution G A downstream_gene_variant PACA-CA 1 20226583 20226583 single base substitution G A intron_variant PACA-CA 1 20232234 20232234 deletion of <=200bp A - intron_variant PACA-CA 1 20232234 20232234 deletion of <=200bp A - upstream_gene_variant PACA-CA 1 20233146 20233146 single base substitution A G intron_variant PACA-CA 1 20238128 20238128 single base substitution G A 3_prime_UTR_variant PACA-CA 1 20238128 20238128 single base substitution G A downstream_gene_variant PACA-CA 1 20244271 20244271 single base substitution A T downstream_gene_variant PAEN-AU 1 20224538 20224538 single base substitution T G downstream_gene_variant PAEN-AU 1 20224538 20224538 single base substitution T G intron_variant PAEN-IT 1 20236016 20236016 single base substitution C T 3_prime_UTR_variant PAEN-IT 1 20236016 20236016 single base substitution C T downstream_gene_variant PBCA-DE 1 20206828 20206844 deletion of <=200bp GTGTTGGGATTACAAGC - upstream_gene_variant PBCA-DE 1 20213106 20213106 single base substitution T A intron_variant PBCA-DE 1 20213106 20213106 single base substitution T A upstream_gene_variant PBCA-DE 1 20213743 20213743 deletion of <=200bp A - intron_variant PBCA-DE 1 20213743 20213743 deletion of <=200bp A - upstream_gene_variant PBCA-DE 1 20215776 20215776 single base substitution T C intron_variant PBCA-DE 1 20215776 20215776 single base substitution T C upstream_gene_variant PBCA-DE 1 20234286 20234286 single base substitution C T 3_prime_UTR_variant PBCA-DE 1 20234286 20234286 single base substitution C T downstream_gene_variant PRAD-CA 1 20227409 20227409 single base substitution G T downstream_gene_variant PRAD-CA 1 20227409 20227409 single base substitution G T intron_variant PRAD-CA 1 20232859 20232859 single base substitution T G intron_variant PRAD-CA 1 20232859 20232859 single base substitution T G upstream_gene_variant PRAD-CA 1 20233936 20233936 single base substitution G A downstream_gene_variant PRAD-CA 1 20233936 20233936 single base substitution G A intron_variant PRAD-CA 1 20243439 20243439 single base substitution T C downstream_gene_variant PRAD-UK 1 20216574 20216574 single base substitution G A intron_variant PRAD-UK 1 20216574 20216574 single base substitution G A upstream_gene_variant PRAD-UK 1 20242574 20242575 deletion of <=200bp TT - downstream_gene_variant RECA-EU 1 20213785 20213785 single base substitution C T intron_variant RECA-EU 1 20213785 20213785 single base substitution C T upstream_gene_variant RECA-EU 1 20230450 20230450 single base substitution G T intron_variant RECA-EU 1 20230450 20230450 single base substitution G T upstream_gene_variant SKCA-BR 1 20205915 20205915 single base substitution C T upstream_gene_variant SKCA-BR 1 20207622 20207622 single base substitution C T upstream_gene_variant SKCA-BR 1 20209266 20209266 single base substitution A G intron_variant SKCA-BR 1 20210151 20210160 deletion of <=200bp TTTGTAGAGA - intron_variant SKCA-BR 1 20210172 20210172 single base substitution C G intron_variant SKCA-BR 1 20210173 20210176 deletion of <=200bp TGTG - intron_variant SKCA-BR 1 20211608 20211608 single base substitution C T intron_variant SKCA-BR 1 20212994 20212994 single base substitution G A intron_variant SKCA-BR 1 20212994 20212994 single base substitution G A upstream_gene_variant SKCA-BR 1 20219455 20219455 single base substitution A C intron_variant SKCA-BR 1 20222564 20222564 single base substitution C T intron_variant SKCA-BR 1 20223502 20223502 single base substitution C T intron_variant SKCA-BR 1 20223792 20223792 single base substitution G A intron_variant SKCA-BR 1 20224472 20224472 single base substitution C T downstream_gene_variant SKCA-BR 1 20224472 20224472 single base substitution C T intron_variant SKCA-BR 1 20232445 20232445 single base substitution A C intron_variant SKCA-BR 1 20232445 20232445 single base substitution A C upstream_gene_variant SKCA-BR 1 20232919 20232919 single base substitution T A splice_region_variant SKCA-BR 1 20232919 20232919 single base substitution T A upstream_gene_variant SKCA-BR 1 20237881 20237881 insertion of <=200bp - AT 3_prime_UTR_variant SKCA-BR 1 20237881 20237881 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 1 20242059 20242059 single base substitution G A downstream_gene_variant SKCA-BR 1 20243650 20243650 single base substitution C T downstream_gene_variant SKCA-BR 1 20244290 20244290 single base substitution T G downstream_gene_variant SKCM-US 1 20216943 20216943 single base substitution G A missense_variant R96K 287G>A SKCM-US 1 20216943 20216943 single base substitution G A upstream_gene_variant SKCM-US 1 20231456 20231456 single base substitution C T missense_variant R271W 811C>T SKCM-US 1 20231456 20231456 single base substitution C T upstream_gene_variant STAD-US 1 20233069 20233069 single base substitution C A exon_variant STAD-US 1 20233069 20233069 single base substitution C A missense_variant P327H 980C>A STAD-US 1 20234063 20234063 single base substitution G A downstream_gene_variant STAD-US 1 20234063 20234063 single base substitution G A missense_variant V341I 1021G>A STAD-US 1 20234193 20234193 single base substitution A G downstream_gene_variant STAD-US 1 20234193 20234193 single base substitution A G missense_variant N384S 1151A>G THCA-SA 1 20234258 20234258 single base substitution G T 3_prime_UTR_variant THCA-SA 1 20234258 20234258 single base substitution G T downstream_gene_variant THCA-SA 1 20235103 20235103 single base substitution A C 3_prime_UTR_variant THCA-SA 1 20235103 20235103 single base substitution A C downstream_gene_variant THCA-SA 1 20236068 20236068 single base substitution G A 3_prime_UTR_variant THCA-SA 1 20236068 20236068 single base substitution G A downstream_gene_variant THCA-SA 1 20236682 20236682 single base substitution T C 3_prime_UTR_variant THCA-SA 1 20236682 20236682 single base substitution T C downstream_gene_variant THCA-SA 1 20236731 20236731 single base substitution A G 3_prime_UTR_variant THCA-SA 1 20236731 20236731 single base substitution A G downstream_gene_variant THCA-SA 1 20238343 20238343 single base substitution A G 3_prime_UTR_variant THCA-SA 1 20238343 20238343 single base substitution A G downstream_gene_variant THCA-SA 1 20238541 20238541 single base substitution A T 3_prime_UTR_variant THCA-SA 1 20238575 20238575 single base substitution T G 3_prime_UTR_variant UCEC-US 1 20216981 20216981 single base substitution G T exon_variant UCEC-US 1 20216981 20216981 single base substitution G T missense_variant D109Y 325G>T UCEC-US 1 20220921 20220921 single base substitution G T exon_variant UCEC-US 1 20220921 20220921 single base substitution G T missense_variant R144I 431G>T UCEC-US 1 20224099 20224099 single base substitution G A exon_variant UCEC-US 1 20224099 20224099 single base substitution G A missense_variant D184N 550G>A UCEC-US 1 20230831 20230831 single base substitution C T synonymous_variant D226D 678C>T UCEC-US 1 20230831 20230831 single base substitution C T upstream_gene_variant UCEC-US 1 20234191 20234191 single base substitution G A downstream_gene_variant UCEC-US 1 20234191 20234191 single base substitution G A synonymous_variant A383A 1149G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PTC-14C COSM4143231 c.1110A>C p.R370S Substitution - Missense 1:19907659-19907659 + YUROC COSM5379240 c.1038G>A p.R346R Substitution - coding silent 1:19907587-19907587 + Pat_41_B COSM5845122 c.325G>A p.D109N Substitution - Missense 1:19890488-19890488 + HCC2998 COSM262700 c.830G>T p.R277I Substitution - Missense 1:19904982-19904982 + TCGA-DD-A11C-01 COSM4925729 c.1049A>G p.Q350R Substitution - Missense 1:19907598-19907598 + PTC-14C COSM4143228 c.1101G>T p.L367L Substitution - coding silent 1:19907650-19907650 + TCGA-AN-A046-01 COSM902303 c.431G>T p.R144I Substitution - Missense 1:19894428-19894428 + CSCC-27-T COSM4473561 c.185C>T p.A62V Substitution - Missense 1:19882698-19882698 + TCGA-BR-8591-01 COSM4027058 c.1151A>G p.N384S Substitution - Missense 1:19907700-19907700 + ccRCC-84 COSM1663297 c.526G>A p.A176T Substitution - Missense 1:19897582-19897582 + LS411 COSM2212981 c.770C>T p.A257V Substitution - Missense 1:19904922-19904922 + TCGA-ES-A2HT-01 COSM4938632 c.551A>G p.D184G Substitution - Missense 1:19897607-19897607 + TCGA-D3-A51T-06 COSM3481700 c.811C>T p.R271W Substitution - Missense 1:19904963-19904963 + ESO-147 COSM1260728 c.980C>T p.P327L Substitution - Missense 1:19906576-19906576 + TCGA-AN-A046-01 COSM3803475 c.498G>A p.E166E Substitution - coding silent 1:19897554-19897554 + TCGA-Q1-A73O-01 COSM4835562 c.1080G>C p.E360D Substitution - Missense 1:19907629-19907629 + TCGA-Q1-A73O-01 COSM4835205 c.684G>A p.L228L Substitution - coding silent 1:19904344-19904344 + DLD1 COSM4622384 c.1184C>A p.A395D Substitution - Missense 1:19907733-19907733 + TCGA-B0-5400-01 COSM463766 c.999A>G p.A333A Substitution - coding silent 1:19906595-19906595 + HCC2998 COSM262700 c.830G>T p.R277I Substitution - Missense 1:19904982-19904982 + 1_PRE-TREATMENT COSM1719835 c.269G>A p.R90Q Substitution - Missense 1:19890432-19890432 + PTC-14C COSM4143226 c.1076A>T p.E359V Substitution - Missense 1:19907625-19907625 + PTC-14C COSM4143227 c.1081A>G p.R361G Substitution - Missense 1:19907630-19907630 + PD24209a COSM5781017 c.578C>T p.S193L Substitution - Missense 1:19897634-19897634 + TCGA-Q1-A73O-01 COSM4835336 c.277C>G p.L93V Substitution - Missense 1:19890440-19890440 + TCGA-BS-A0UV-01 COSM902321 c.1149G>A p.A383A Substitution - coding silent 1:19907698-19907698 + Pat_11_A COSM5845140 c.1154C>T p.T385M Substitution - Missense 1:19907703-19907703 + TCGA-D1-A167-01 COSM902320 c.678C>T p.D226D Substitution - coding silent 1:19904338-19904338 + SNU-C2B COSM2212912 c.589G>A p.A197T Substitution - Missense 1:19897645-19897645 + B80-0-Tumor COSM1748084 c.596T>C p.L199P Substitution - Missense 1:19897652-19897652 + C135 COSM4610928 c.1058_1060delAGA p.K356delK Deletion - In frame 1:19907607-19907609 + NPC37F COSM4995353 c.573C>A p.D191E Substitution - Missense 1:19897629-19897629 + TCGA-HE-A5NF-01 COSM3984614 c.942T>C p.N314N Substitution - coding silent 1:19906538-19906538 + TCGA-A6-5665-01 COSM1337928 c.723T>C p.N241N Substitution - coding silent 1:19904383-19904383 + LIM1215 COSM4229189 c.474T>G p.P158P Substitution - coding silent 1:19894471-19894471 + B80-0 COSM1748084 c.596T>C p.L199P Substitution - Missense 1:19897652-19897652 + CHC2099T COSM4793298 c.129T>C p.S43S Substitution - coding silent 1:19882642-19882642 + 72 COSM5744508 c.484-1G>A p.? Unknown 1:19897539-19897539 + TCGA-BR-8679-01 COSM4027057 c.1021G>A p.V341I Substitution - Missense 1:19907570-19907570 + CHC2099T COSM4793298 c.129T>C p.S43S Substitution - coding silent 1:19882642-19882642 + LUAD-RT-S01702 COSM378865 c.559C>T p.R187W Substitution - Missense 1:19897615-19897615 + T578 COSM262700 c.830G>T p.R277I Substitution - Missense 1:19904982-19904982 + T2269 COSM4710565 c.638A>C p.K213T Substitution - Missense 1:19904298-19904298 + TCGA-AX-A0J0-01 COSM902301 c.325G>T p.D109Y Substitution - Missense 1:19890488-19890488 + TCGA-AP-A056-01 COSM902304 c.550G>A p.D184N Substitution - Missense 1:19897606-19897606 + LC_C9 COSM1185355 c.281A>G p.K94R Substitution - Missense 1:19890444-19890444 + Pat_41_B COSM5845126 c.404G>A p.G135D Substitution - Missense 1:19894401-19894401 + TCGA-AA-A010-01 COSM262700 c.830G>T p.R277I Substitution - Missense 1:19904982-19904982 + CSCC-49-T COSM4571179 c.398T>C p.F133S Substitution - Missense 1:19894395-19894395 + TCGA-BR-6452-01 COSM4027056 c.980C>A p.P327H Substitution - Missense 1:19906576-19906576 + TCGA-A3-3320-01 COSM1491912 c.607-2A>T p.? Unknown 1:19904265-19904265 + cSCCP8 COSM140347 c.340G>T p.V114L Substitution - Missense 1:19890503-19890503 + TCGA-EE-A2MR-06 COSM3481655 c.287G>A p.R96K Substitution - Missense 1:19890450-19890450 + PTC-14C COSM4143229 c.1103A>G p.E368G Substitution - Missense 1:19907652-19907652 + 1_RESISTANT COSM1719835 c.269G>A p.R90Q Substitution - Missense 1:19890432-19890432 + TCGA-AG-A002-01 COSM262700 c.830G>T p.R277I Substitution - Missense 1:19904982-19904982 + PTC-14C COSM4143230 c.1107C>G p.S369R Substitution - Missense 1:19907656-19907656 + PT49 COSM5934367 c.371-8C>T p.? Unknown 1:19894360-19894360 + TCGA-BP-4964-01 COSM463764 c.539G>T p.G180V Substitution - Missense 1:19897595-19897595 + PD11394a COSM5783067 c.834T>C p.N278N Substitution - coding silent 1:19904986-19904986 + TCGA-BS-A0TC-01 COSM902303 c.431G>T p.R144I Substitution - Missense 1:19894428-19894428 + LUAD_E00522 COSM352870 c.323A>T p.E108V Substitution - Missense 1:19890486-19890486 + SA071 COSM213271 c.573C>G p.D191E Substitution - Missense 1:19897629-19897629 + pfg104T COSM378865 c.559C>T p.R187W Substitution - Missense 1:19897615-19897615 + PTC-14C COSM4143225 c.1072C>G p.Q358E Substitution - Missense 1:19907621-19907621 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.374987 1p36.13 611758

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - A Frameshift p.R90Tfs*22 c.267dupA 1 20216923 LGG A G Missense p.D230G c.689A>G 1 20230842 STAD A G Synonymous p.A333A c.999A>G 1 20233088 RCCC A T Missense p.D226V c.677A>T 1 20230830 BRCA C G Missense p.D191E c.573C>G 1 20224122 BRCA C T 3-UTRSNV . c.1194+50C>T 1 20234286 MB G A 3-UTRSNV . c.1194+2111G>A 1 20236347 DLBCL G T Missense p.G180V c.539G>T 1 20224088 RCCC G T Missense p.R107L c.320G>T 1 20216976 CM G T Missense p.R144I c.431G>T 1 20220921 UCEC G T Synonymous p.V100V c.300G>T 1 20216956 LUAD - T 3-UTRInsertion . c.1194+4040dupT 1 20238276 HC