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 2 170366331 170366331 + Nonsense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr2:170366331C>T c.43C>T c.(43-45)Caa>Taa p.Q15* BLCA 2 170366373 170366373 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr2:170366373G>A c.85G>A c.(85-87)Gag>Aag p.E29K BLCA 2 170366589 170366589 + Nonsense_Mutation SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr2:170366589G>T c.301G>T c.(301-303)Gga>Tga p.G101* BLCA 2 170366815 170366815 + Missense_Mutation SNP C C T TCGA-CU-A72E-01A-12D-A339-08 TCGA-CU-A72E-10A-01D-A339-08 g.chr2:170366815C>T c.527C>T c.(526-528)cCa>cTa p.P176L BLCA 2 170367164 170367164 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr2:170367164G>A c.876G>A c.(874-876)ctG>ctA p.L292L BLCA 2 170367360 170367360 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 g.chr2:170367360G>C c.1072G>C c.(1072-1074)Gaa>Caa p.E358Q BLCA 2 170371102 170371102 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 g.chr2:170371102G>A c.1129G>A c.(1129-1131)Gaa>Aaa p.E377K BLCA 2 170371380 170371380 + Missense_Mutation SNP G G A TCGA-ZF-AA53-01A-11D-A391-08 TCGA-ZF-AA53-10A-01D-A394-08 g.chr2:170371380G>A c.1285G>A c.(1285-1287)Gaa>Aaa p.E429K BLCA 2 170382100 170382100 + Missense_Mutation SNP A A C TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr2:170382100A>C c.1715A>C c.(1714-1716)gAa>gCa p.E572A BRCA 2 170366479 170366479 + Missense_Mutation SNP C C G TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 g.chr2:170366479C>G c.191C>G c.(190-192)tCt>tGt p.S64C BRCA 2 170366577 170366577 + Missense_Mutation SNP G G C TCGA-BH-A18J-01A-11D-A12B-09 TCGA-BH-A18J-11A-31D-A12B-09 g.chr2:170366577G>C c.289G>C c.(289-291)Gat>Cat p.D97H BRCA 2 170366849 170366849 + Silent SNP C C T TCGA-GM-A2DC-01A-11D-A18P-09 TCGA-GM-A2DC-10C-01D-A18P-09 g.chr2:170366849C>T c.561C>T c.(559-561)agC>agT p.S187S BRCA 2 170366886 170366886 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 g.chr2:170366886G>C c.598G>C c.(598-600)Gtg>Ctg p.V200L BRCA 2 170367116 170367116 + Silent SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr2:170367116T>G c.828T>G c.(826-828)ggT>ggG p.G276G BRCA 2 170367168 170367168 + Missense_Mutation SNP G G A TCGA-A8-A08J-01A-11W-A019-09 TCGA-A8-A08J-10A-01W-A021-09 g.chr2:170367168G>A c.880G>A c.(880-882)Gac>Aac p.D294N BRCA 2 170377483 170377483 + Nonsense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr2:170377483G>T c.1675G>T c.(1675-1677)Gaa>Taa p.E559* CESC 2 170366664 170366664 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 g.chr2:170366664C>T c.376C>T c.(376-378)Ctt>Ttt p.L126F CESC 2 170371123 170371123 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr2:170371123C>T c.1150C>T c.(1150-1152)Ctg>Ttg p.L384L COAD 2 170366588 170366588 + Silent SNP C C T TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr2:170366588C>T c.300C>T c.(298-300)gaC>gaT p.D100D COAD 2 170366660 170366660 + Silent SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:170366660T>G c.372T>G c.(370-372)tcT>tcG p.S124S COAD 2 170366973 170366974 + Frame_Shift_Ins INS - - A TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr2:170366973_170366974insA c.685_686insA c.(685-687)gaafs p.E229fs COAD 2 170371185 170371185 + Silent SNP A A G TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr2:170371185A>G c.1212A>G c.(1210-1212)gcA>gcG p.A404A COADREAD 2 170366315 170366315 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:170366315G>T c.27G>T c.(25-27)gaG>gaT p.E9D COADREAD 2 170366494 170366494 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:170366494C>T c.206C>T c.(205-207)gCg>gTg p.A69V COADREAD 2 170366588 170366588 + Silent SNP C C T TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr2:170366588C>T c.300C>T c.(298-300)gaC>gaT p.D100D COADREAD 2 170366660 170366660 + Silent SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:170366660T>G c.372T>G c.(370-372)tcT>tcG p.S124S COADREAD 2 170366973 170366974 + Frame_Shift_Ins INS - - A TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr2:170366973_170366974insA c.685_686insA c.(685-687)gaafs p.E229fs COADREAD 2 170367161 170367161 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:170367161C>A c.873C>A c.(871-873)taC>taA p.Y291* COADREAD 2 170371087 170371087 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:170371087G>A c.1114G>A c.(1114-1116)Gat>Aat p.D372N COADREAD 2 170371185 170371185 + Silent SNP A A G TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr2:170371185A>G c.1212A>G c.(1210-1212)gcA>gcG p.A404A COADREAD 2 170374710 170374710 + Missense_Mutation SNP A A G TCGA-DC-6160-01A-11D-1657-10 TCGA-DC-6160-10A-01D-1657-10 g.chr2:170374710A>G c.1387A>G c.(1387-1389)Aac>Gac p.N463D COADREAD 2 170374733 170374734 + Frame_Shift_Ins INS - - A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr2:170374733_170374734insA c.1410_1411insA c.(1411-1413)aaafs p.K471fs ESCA 2 170371230 170371230 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr2:170371230C>T c.1257C>T c.(1255-1257)tgC>tgT p.C419C GBM 2 170382111 170382111 + Missense_Mutation SNP A A G TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 g.chr2:170382111A>G c.1726A>G c.(1726-1728)Aaa>Gaa p.K576E GBMLGG 2 170367045 170367045 + Missense_Mutation SNP A A G TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 g.chr2:170367045A>G c.757A>G c.(757-759)Aaa>Gaa p.K253E GBMLGG 2 170374777 170374777 + Missense_Mutation SNP G G A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 g.chr2:170374777G>A c.1454G>A c.(1453-1455)cGt>cAt p.R485H GBMLGG 2 170374879 170374879 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:170374879C>T c.1556C>T c.(1555-1557)aCa>aTa p.T519I GBMLGG 2 170382111 170382111 + Missense_Mutation SNP A A G TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 g.chr2:170382111A>G c.1726A>G c.(1726-1728)Aaa>Gaa p.K576E HNSC 2 170366343 170366343 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 g.chr2:170366343C>T c.55C>T c.(55-57)Ctt>Ttt p.L19F HNSC 2 170371456 170371456 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chr2:170371456G>A c.1361G>A c.(1360-1362)gGa>gAa p.G454E HNSC 2 170377507 170377507 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 g.chr2:170377507G>C c.1699G>C c.(1699-1701)Gac>Cac p.D567H KIPAN 2 170371427 170371427 + Silent SNP A A T TCGA-B0-5088-01A-01D-1462-08 TCGA-B0-5088-11A-01D-1462-08 g.chr2:170371427A>T c.1332A>T c.(1330-1332)tcA>tcT p.S444S KIRC 2 170371427 170371427 + Silent SNP A A T TCGA-B0-5088-01A-01D-1462-08 TCGA-B0-5088-11A-01D-1462-08 g.chr2:170371427A>T c.1332A>T c.(1330-1332)tcA>tcT p.S444S LGG 2 170367045 170367045 + Missense_Mutation SNP A A G TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 g.chr2:170367045A>G c.757A>G c.(757-759)Aaa>Gaa p.K253E LGG 2 170374777 170374777 + Missense_Mutation SNP G G A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 g.chr2:170374777G>A c.1454G>A c.(1453-1455)cGt>cAt p.R485H LGG 2 170374879 170374879 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:170374879C>T c.1556C>T c.(1555-1557)aCa>aTa p.T519I LIHC 2 170366494 170366494 + Missense_Mutation SNP C C T TCGA-CC-A8HV-01A-11D-A35Z-10 TCGA-CC-A8HV-10A-01D-A35Z-10 g.chr2:170366494C>T c.206C>T c.(205-207)gCg>gTg p.A69V LIHC 2 170377511 170377511 + Missense_Mutation SNP T T C TCGA-ED-A8O5-01A-11D-A35Z-10 TCGA-ED-A8O5-10A-01D-A35Z-10 g.chr2:170377511T>C c.1703T>C c.(1702-1704)aTa>aCa p.I568T LUAD 2 170366651 170366651 + Silent SNP C C A TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr2:170366651C>A c.363C>A c.(361-363)gtC>gtA p.V121V LUAD 2 170367047 170367047 + Missense_Mutation SNP A A T TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr2:170367047A>T c.759A>T c.(757-759)aaA>aaT p.K253N LUAD 2 170367183 170367183 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr2:170367183G>A c.895G>A c.(895-897)Gga>Aga p.G299R LUAD 2 170367347 170367347 + Silent SNP A A T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr2:170367347A>T c.1059A>T c.(1057-1059)ctA>ctT p.L353L LUAD 2 170371130 170371130 + Missense_Mutation SNP C C T TCGA-80-5607-01A-31D-1945-08 TCGA-80-5607-10A-01D-1946-08 g.chr2:170371130C>T c.1157C>T c.(1156-1158)tCa>tTa p.S386L LUAD 2 170371213 170371213 + Missense_Mutation SNP C C G TCGA-17-Z057-01A-01W-0747-08 TCGA-17-Z057-11A-01W-0747-08 g.chr2:170371213C>G c.1240C>G c.(1240-1242)Ctg>Gtg p.L414V LUAD 2 170374795 170374795 + Missense_Mutation SNP C C T TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr2:170374795C>T c.1472C>T c.(1471-1473)gCa>gTa p.A491V LUSC 2 170366466 170366466 + Missense_Mutation SNP G G C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 g.chr2:170366466G>C c.178G>C c.(178-180)Gag>Cag p.E60Q LUSC 2 170366566 170366566 + Missense_Mutation SNP C C T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 g.chr2:170366566C>T c.278C>T c.(277-279)tCt>tTt p.S93F LUSC 2 170366615 170366615 + Silent SNP G G A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 g.chr2:170366615G>A c.327G>A c.(325-327)ttG>ttA p.L109L LUSC 2 170374740 170374740 + Missense_Mutation SNP G G A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 g.chr2:170374740G>A c.1417G>A c.(1417-1419)Gga>Aga p.G473R PAAD 2 170366805 170366805 + Nonsense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:170366805C>T c.517C>T c.(517-519)Caa>Taa p.Q173* PRAD 2 170367317 170367317 + Missense_Mutation SNP G G C TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 g.chr2:170367317G>C c.1029G>C c.(1027-1029)caG>caC p.Q343H READ 2 170366315 170366315 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:170366315G>T c.27G>T c.(25-27)gaG>gaT p.E9D READ 2 170366494 170366494 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:170366494C>T c.206C>T c.(205-207)gCg>gTg p.A69V READ 2 170367161 170367161 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:170367161C>A c.873C>A c.(871-873)taC>taA p.Y291* READ 2 170371087 170371087 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:170371087G>A c.1114G>A c.(1114-1116)Gat>Aat p.D372N READ 2 170374710 170374710 + Missense_Mutation SNP A A G TCGA-DC-6160-01A-11D-1657-10 TCGA-DC-6160-10A-01D-1657-10 g.chr2:170374710A>G c.1387A>G c.(1387-1389)Aac>Gac p.N463D READ 2 170374733 170374734 + Frame_Shift_Ins INS - - A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr2:170374733_170374734insA c.1410_1411insA c.(1411-1413)aaafs p.K471fs SKCM 2 170366325 170366325 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr2:170366325C>T c.37C>T c.(37-39)Ctt>Ttt p.L13F SKCM 2 170367264 170367264 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr2:170367264C>T c.976C>T c.(976-978)Ctt>Ttt p.L326F SKCM 2 170367288 170367288 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr2:170367288C>T c.1000C>T c.(1000-1002)Ccc>Tcc p.P334S SKCM 2 170377373 170377373 + Missense_Mutation SNP G G T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr2:170377373G>T c.1565G>T c.(1564-1566)tGg>tTg p.W522L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 2 170366331 170366331 single base substitution C T stop_gained Q15* 43C>T BLCA-US 2 170366331 170366331 single base substitution C T upstream_gene_variant BLCA-US 2 170367164 170367164 single base substitution G A synonymous_variant L292L 876G>A BLCA-US 2 170367164 170367164 single base substitution G A upstream_gene_variant BLCA-US 2 170371102 170371102 single base substitution G A exon_variant BLCA-US 2 170371102 170371102 single base substitution G A missense_variant E377K 1129G>A BRCA-EU 2 170361480 170361480 single base substitution C A upstream_gene_variant BRCA-EU 2 170362623 170362623 single base substitution C G upstream_gene_variant BRCA-EU 2 170362840 170362840 single base substitution G A upstream_gene_variant BRCA-EU 2 170363227 170363227 single base substitution C T upstream_gene_variant BRCA-EU 2 170364754 170364754 single base substitution C A upstream_gene_variant BRCA-EU 2 170365245 170365245 single base substitution A G upstream_gene_variant BRCA-EU 2 170366559 170366559 single base substitution C A missense_variant L91M 271C>A BRCA-EU 2 170366559 170366559 single base substitution C A upstream_gene_variant BRCA-EU 2 170367415 170367415 single base substitution G A intron_variant BRCA-EU 2 170367415 170367415 single base substitution G A upstream_gene_variant BRCA-EU 2 170367515 170367515 single base substitution T C intron_variant BRCA-EU 2 170367515 170367515 single base substitution T C upstream_gene_variant BRCA-EU 2 170368529 170368529 single base substitution T C intron_variant BRCA-EU 2 170368529 170368529 single base substitution T C upstream_gene_variant BRCA-EU 2 170369035 170369035 deletion of <=200bp T - intron_variant BRCA-EU 2 170369035 170369035 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 170369555 170369555 single base substitution A T intron_variant BRCA-EU 2 170369555 170369555 single base substitution A T upstream_gene_variant BRCA-EU 2 170369895 170369895 single base substitution C G intron_variant BRCA-EU 2 170369895 170369895 single base substitution C G upstream_gene_variant BRCA-EU 2 170370577 170370577 single base substitution G C intron_variant BRCA-EU 2 170370577 170370577 single base substitution G C upstream_gene_variant BRCA-EU 2 170370730 170370730 single base substitution A G exon_variant BRCA-EU 2 170370730 170370730 single base substitution A G intron_variant BRCA-EU 2 170370730 170370730 single base substitution A G upstream_gene_variant BRCA-EU 2 170373044 170373044 single base substitution G A downstream_gene_variant BRCA-EU 2 170373044 170373044 single base substitution G A intron_variant BRCA-EU 2 170378806 170378806 single base substitution C A downstream_gene_variant BRCA-EU 2 170378806 170378806 single base substitution C A intron_variant BRCA-EU 2 170379296 170379296 single base substitution G C downstream_gene_variant BRCA-EU 2 170379296 170379296 single base substitution G C intron_variant BRCA-EU 2 170379308 170379308 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 170379308 170379308 deletion of <=200bp T - intron_variant BRCA-EU 2 170379501 170379501 single base substitution G T downstream_gene_variant BRCA-EU 2 170379501 170379501 single base substitution G T intron_variant BRCA-EU 2 170379931 170379931 single base substitution A G downstream_gene_variant BRCA-EU 2 170379931 170379931 single base substitution A G intron_variant BRCA-EU 2 170380012 170380012 single base substitution G C downstream_gene_variant BRCA-EU 2 170380012 170380012 single base substitution G C intron_variant BRCA-EU 2 170380117 170380117 single base substitution C T downstream_gene_variant BRCA-EU 2 170380117 170380117 single base substitution C T intron_variant BRCA-EU 2 170381274 170381274 single base substitution C T downstream_gene_variant BRCA-EU 2 170381274 170381274 single base substitution C T intron_variant BRCA-EU 2 170383044 170383044 single base substitution A G downstream_gene_variant BRCA-EU 2 170385405 170385405 single base substitution C G downstream_gene_variant BRCA-EU 2 170386606 170386606 single base substitution C T downstream_gene_variant BRCA-EU 2 170386845 170386845 single base substitution G A downstream_gene_variant BRCA-EU 2 170386884 170386884 single base substitution C A downstream_gene_variant BRCA-EU 2 170387594 170387594 single base substitution G T downstream_gene_variant BRCA-EU 2 170387671 170387671 single base substitution G C downstream_gene_variant BRCA-FR 2 170361817 170361817 single base substitution A T upstream_gene_variant BRCA-FR 2 170362840 170362840 single base substitution G A upstream_gene_variant BRCA-FR 2 170379501 170379501 single base substitution G T downstream_gene_variant BRCA-FR 2 170379501 170379501 single base substitution G T intron_variant BRCA-FR 2 170381274 170381274 single base substitution C T downstream_gene_variant BRCA-FR 2 170381274 170381274 single base substitution C T intron_variant BRCA-US 2 170366479 170366479 single base substitution C G missense_variant S64C 191C>G BRCA-US 2 170366479 170366479 single base substitution C G upstream_gene_variant BRCA-US 2 170366577 170366577 single base substitution G C missense_variant D97H 289G>C BRCA-US 2 170366577 170366577 single base substitution G C upstream_gene_variant BRCA-US 2 170366849 170366849 single base substitution C T synonymous_variant S187S 561C>T BRCA-US 2 170366849 170366849 single base substitution C T upstream_gene_variant BRCA-US 2 170366886 170366886 single base substitution G C missense_variant V200L 598G>C BRCA-US 2 170366886 170366886 single base substitution G C upstream_gene_variant BRCA-US 2 170367116 170367116 single base substitution T G synonymous_variant G276G 828T>G BRCA-US 2 170367116 170367116 single base substitution T G upstream_gene_variant BRCA-US 2 170367168 170367168 single base substitution G A missense_variant D294N 880G>A BRCA-US 2 170367168 170367168 single base substitution G A upstream_gene_variant BRCA-US 2 170377483 170377483 single base substitution G T exon_variant BRCA-US 2 170377483 170377483 single base substitution G T stop_gained E559* 1675G>T BTCA-JP 2 170366398 170366398 single base substitution T G missense_variant L37R 110T>G BTCA-JP 2 170366398 170366398 single base substitution T G upstream_gene_variant BTCA-JP 2 170377510 170377511 deletion of <=200bp AT - exon_variant BTCA-JP 2 170377510 170377511 deletion of <=200bp AT - frameshift_variant I568 BTCA-JP 2 170387261 170387264 deletion of <=200bp AATA - downstream_gene_variant CESC-US 2 170366664 170366664 single base substitution C T missense_variant L126F 376C>T CESC-US 2 170366664 170366664 single base substitution C T upstream_gene_variant CESC-US 2 170371123 170371123 single base substitution C T exon_variant CESC-US 2 170371123 170371123 single base substitution C T synonymous_variant L384L 1150C>T CLLE-ES 2 170363054 170363054 single base substitution A T upstream_gene_variant COAD-US 2 170366588 170366588 single base substitution C T synonymous_variant D100D 300C>T COAD-US 2 170366588 170366588 single base substitution C T upstream_gene_variant COAD-US 2 170366660 170366660 single base substitution T G synonymous_variant S124S 372T>G COAD-US 2 170366660 170366660 single base substitution T G upstream_gene_variant COAD-US 2 170366973 170366973 insertion of <=200bp - A frameshift_variant E229R? COAD-US 2 170366973 170366973 insertion of <=200bp - A upstream_gene_variant COAD-US 2 170386418 170386418 single base substitution T A downstream_gene_variant COAD-US 2 170387161 170387161 single base substitution T C downstream_gene_variant COCA-CN 2 170366383 170366383 single base substitution T A missense_variant F32Y 95T>A COCA-CN 2 170366383 170366383 single base substitution T A upstream_gene_variant COCA-CN 2 170366755 170366755 single base substitution A G missense_variant E156G 467A>G COCA-CN 2 170366755 170366755 single base substitution A G upstream_gene_variant COCA-CN 2 170367065 170367065 single base substitution C T synonymous_variant F259F 777C>T COCA-CN 2 170367065 170367065 single base substitution C T upstream_gene_variant COCA-CN 2 170367097 170367097 single base substitution C T missense_variant A270V 809C>T COCA-CN 2 170367097 170367097 single base substitution C T upstream_gene_variant COCA-CN 2 170371351 170371351 single base substitution C T intron_variant COCA-CN 2 170374570 170374570 single base substitution G T downstream_gene_variant COCA-CN 2 170374570 170374570 single base substitution G T intron_variant COCA-CN 2 170377298 170377298 single base substitution C A intron_variant COCA-CN 2 170377340 170377340 single base substitution T G intron_variant COCA-CN 2 170378509 170378509 single base substitution G A downstream_gene_variant COCA-CN 2 170378509 170378509 single base substitution G A intron_variant COCA-CN 2 170386398 170386398 single base substitution T C downstream_gene_variant COCA-CN 2 170387107 170387107 single base substitution C T downstream_gene_variant COCA-CN 2 170387614 170387614 single base substitution G T downstream_gene_variant EOPC-DE 2 170366588 170366588 single base substitution C T synonymous_variant D100D 300C>T EOPC-DE 2 170366588 170366588 single base substitution C T upstream_gene_variant ESAD-UK 2 170366496 170366496 deletion of <=200bp A - frameshift_variant K70 ESAD-UK 2 170366496 170366496 deletion of <=200bp A - upstream_gene_variant ESAD-UK 2 170369244 170369244 single base substitution T A intron_variant ESAD-UK 2 170369244 170369244 single base substitution T A upstream_gene_variant ESAD-UK 2 170369825 170369825 single base substitution A G intron_variant ESAD-UK 2 170369825 170369825 single base substitution A G upstream_gene_variant ESAD-UK 2 170370901 170370901 single base substitution T G intron_variant ESAD-UK 2 170371018 170371018 deletion of <=200bp T - intron_variant ESAD-UK 2 170372179 170372179 insertion of <=200bp - A downstream_gene_variant ESAD-UK 2 170372179 170372179 insertion of <=200bp - A intron_variant ESAD-UK 2 170373298 170373298 single base substitution G A downstream_gene_variant ESAD-UK 2 170373298 170373298 single base substitution G A intron_variant ESAD-UK 2 170373805 170373805 single base substitution C A downstream_gene_variant ESAD-UK 2 170373805 170373805 single base substitution C A intron_variant ESAD-UK 2 170375484 170375484 single base substitution C A downstream_gene_variant ESAD-UK 2 170375484 170375484 single base substitution C A intron_variant ESAD-UK 2 170375996 170375996 single base substitution T A downstream_gene_variant ESAD-UK 2 170375996 170375996 single base substitution T A intron_variant ESAD-UK 2 170376777 170376777 single base substitution C T intron_variant ESAD-UK 2 170379200 170379200 insertion of <=200bp - A downstream_gene_variant ESAD-UK 2 170379200 170379200 insertion of <=200bp - A intron_variant ESAD-UK 2 170386178 170386178 single base substitution T G downstream_gene_variant GBM-US 2 170382111 170382111 single base substitution A G downstream_gene_variant GBM-US 2 170382111 170382111 single base substitution A G missense_variant K576E 1726A>G KIRC-US 2 170371427 170371427 single base substitution A T exon_variant KIRC-US 2 170371427 170371427 single base substitution A T synonymous_variant S444S 1332A>T KIRP-US 2 170382094 170382096 deletion of <=200bp GGT - downstream_gene_variant KIRP-US 2 170382094 170382096 deletion of <=200bp GGT - frameshift_variant KY570 KIRP-US 2 170382098 170382107 deletion of <=200bp TGAAGATGAT - downstream_gene_variant KIRP-US 2 170382098 170382107 deletion of <=200bp TGAAGATGAT - frameshift_variant YEDD571 LAML-KR 2 170361556 170361556 single base substitution A C upstream_gene_variant LAML-KR 2 170376179 170376179 single base substitution G T downstream_gene_variant LAML-KR 2 170376179 170376179 single base substitution G T intron_variant LGG-US 2 170374777 170374777 single base substitution G A downstream_gene_variant LGG-US 2 170374777 170374777 single base substitution G A exon_variant LGG-US 2 170374777 170374777 single base substitution G A missense_variant R485H 1454G>A LICA-CN 2 170366616 170366616 single base substitution G A missense_variant A110T 328G>A LICA-CN 2 170366616 170366616 single base substitution G A upstream_gene_variant LINC-JP 2 170376337 170376337 single base substitution C T downstream_gene_variant LINC-JP 2 170376337 170376337 single base substitution C T intron_variant LINC-JP 2 170377215 170377215 single base substitution A T intron_variant LINC-JP 2 170386389 170386389 single base substitution A G downstream_gene_variant LINC-JP 2 170387206 170387206 single base substitution G A downstream_gene_variant LIRI-JP 2 170361312 170361312 single base substitution G A upstream_gene_variant LIRI-JP 2 170363977 170363977 single base substitution A G upstream_gene_variant LIRI-JP 2 170366462 170366462 single base substitution C T synonymous_variant F58F 174C>T LIRI-JP 2 170366462 170366462 single base substitution C T upstream_gene_variant LIRI-JP 2 170366979 170366979 single base substitution T C missense_variant Y231H 691T>C LIRI-JP 2 170366979 170366979 single base substitution T C upstream_gene_variant LIRI-JP 2 170367652 170367652 single base substitution T G intron_variant LIRI-JP 2 170367652 170367652 single base substitution T G upstream_gene_variant LIRI-JP 2 170368042 170368042 single base substitution A G intron_variant LIRI-JP 2 170368042 170368042 single base substitution A G upstream_gene_variant LIRI-JP 2 170368163 170368163 single base substitution T C intron_variant LIRI-JP 2 170368163 170368163 single base substitution T C upstream_gene_variant LIRI-JP 2 170371362 170371362 single base substitution A G splice_acceptor_variant LIRI-JP 2 170373358 170373358 single base substitution C T downstream_gene_variant LIRI-JP 2 170373358 170373358 single base substitution C T intron_variant LIRI-JP 2 170374718 170374718 single base substitution G T downstream_gene_variant LIRI-JP 2 170374718 170374718 single base substitution G T exon_variant LIRI-JP 2 170374718 170374718 single base substitution G T synonymous_variant V465V 1395G>T LIRI-JP 2 170376973 170376973 single base substitution T A intron_variant LIRI-JP 2 170377377 170377377 single base substitution T C exon_variant LIRI-JP 2 170377377 170377377 single base substitution T C synonymous_variant D523D 1569T>C LIRI-JP 2 170379629 170379629 single base substitution T G downstream_gene_variant LIRI-JP 2 170379629 170379629 single base substitution T G intron_variant LIRI-JP 2 170380699 170380699 single base substitution T C downstream_gene_variant LIRI-JP 2 170380699 170380699 single base substitution T C intron_variant LIRI-JP 2 170385778 170385778 single base substitution A C downstream_gene_variant LIRI-JP 2 170386026 170386026 single base substitution G A downstream_gene_variant LIRI-JP 2 170386143 170386143 single base substitution T C downstream_gene_variant LUSC-KR 2 170363282 170363282 single base substitution A G upstream_gene_variant LUSC-KR 2 170370976 170370976 single base substitution T C intron_variant LUSC-KR 2 170371540 170371540 single base substitution C T downstream_gene_variant LUSC-KR 2 170371540 170371540 single base substitution C T intron_variant LUSC-KR 2 170372223 170372223 single base substitution T C downstream_gene_variant LUSC-KR 2 170372223 170372223 single base substitution T C intron_variant LUSC-KR 2 170373298 170373298 single base substitution G A downstream_gene_variant LUSC-KR 2 170373298 170373298 single base substitution G A intron_variant LUSC-KR 2 170374049 170374049 single base substitution G A downstream_gene_variant LUSC-KR 2 170374049 170374049 single base substitution G A intron_variant LUSC-KR 2 170374440 170374440 single base substitution C T downstream_gene_variant LUSC-KR 2 170374440 170374440 single base substitution C T intron_variant LUSC-KR 2 170380487 170380487 single base substitution T C downstream_gene_variant LUSC-KR 2 170380487 170380487 single base substitution T C intron_variant LUSC-KR 2 170380843 170380843 single base substitution A C downstream_gene_variant LUSC-KR 2 170380843 170380843 single base substitution A C intron_variant LUSC-KR 2 170381283 170381283 single base substitution T G downstream_gene_variant LUSC-KR 2 170381283 170381283 single base substitution T G intron_variant LUSC-KR 2 170385578 170385578 single base substitution G A downstream_gene_variant LUSC-KR 2 170386294 170386294 single base substitution G A downstream_gene_variant LUSC-KR 2 170387139 170387139 single base substitution C G downstream_gene_variant LUSC-US 2 170366466 170366466 single base substitution G C missense_variant E60Q 178G>C LUSC-US 2 170366466 170366466 single base substitution G C upstream_gene_variant LUSC-US 2 170366566 170366566 single base substitution C T missense_variant S93F 278C>T LUSC-US 2 170366566 170366566 single base substitution C T upstream_gene_variant LUSC-US 2 170366615 170366615 single base substitution G A synonymous_variant L109L 327G>A LUSC-US 2 170366615 170366615 single base substitution G A upstream_gene_variant LUSC-US 2 170374740 170374740 single base substitution G A downstream_gene_variant LUSC-US 2 170374740 170374740 single base substitution G A exon_variant LUSC-US 2 170374740 170374740 single base substitution G A missense_variant G473R 1417G>A LUSC-US 2 170387128 170387128 single base substitution T C downstream_gene_variant MALY-DE 2 170369928 170369928 single base substitution C T intron_variant MALY-DE 2 170369928 170369928 single base substitution C T upstream_gene_variant MALY-DE 2 170376518 170376518 single base substitution T C intron_variant MELA-AU 2 170361244 170361244 single base substitution T A upstream_gene_variant MELA-AU 2 170361310 170361310 single base substitution C T upstream_gene_variant MELA-AU 2 170361355 170361355 single base substitution C T upstream_gene_variant MELA-AU 2 170361532 170361532 single base substitution T G upstream_gene_variant MELA-AU 2 170361562 170361562 single base substitution C G upstream_gene_variant MELA-AU 2 170362045 170362045 single base substitution C T upstream_gene_variant MELA-AU 2 170362084 170362084 single base substitution C T upstream_gene_variant MELA-AU 2 170362241 170362241 single base substitution C T upstream_gene_variant MELA-AU 2 170362580 170362580 single base substitution C T upstream_gene_variant MELA-AU 2 170363900 170363901 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 170363917 170363917 single base substitution T C upstream_gene_variant MELA-AU 2 170364017 170364017 single base substitution A T upstream_gene_variant MELA-AU 2 170364388 170364391 deletion of <=200bp GTTA - upstream_gene_variant MELA-AU 2 170364761 170364761 single base substitution T C upstream_gene_variant MELA-AU 2 170364958 170364958 single base substitution C T upstream_gene_variant MELA-AU 2 170365223 170365223 single base substitution C T upstream_gene_variant MELA-AU 2 170365485 170365485 single base substitution C T upstream_gene_variant MELA-AU 2 170365639 170365639 single base substitution C T upstream_gene_variant MELA-AU 2 170365701 170365701 single base substitution A G upstream_gene_variant MELA-AU 2 170366169 170366169 single base substitution T A upstream_gene_variant MELA-AU 2 170366769 170366769 single base substitution C T missense_variant R161C 481C>T MELA-AU 2 170366769 170366769 single base substitution C T upstream_gene_variant MELA-AU 2 170367081 170367081 single base substitution G A missense_variant E265K 793G>A MELA-AU 2 170367081 170367081 single base substitution G A upstream_gene_variant MELA-AU 2 170368551 170368551 single base substitution G A intron_variant MELA-AU 2 170368551 170368551 single base substitution G A upstream_gene_variant MELA-AU 2 170369398 170369398 single base substitution G A intron_variant MELA-AU 2 170369398 170369398 single base substitution G A upstream_gene_variant MELA-AU 2 170371266 170371266 single base substitution C T intron_variant MELA-AU 2 170371394 170371394 single base substitution C T exon_variant MELA-AU 2 170371394 170371394 single base substitution C T synonymous_variant L433L 1299C>T MELA-AU 2 170371654 170371654 single base substitution C T downstream_gene_variant MELA-AU 2 170371654 170371654 single base substitution C T intron_variant MELA-AU 2 170371763 170371763 single base substitution G T downstream_gene_variant MELA-AU 2 170371763 170371763 single base substitution G T intron_variant MELA-AU 2 170372475 170372475 single base substitution G A downstream_gene_variant MELA-AU 2 170372475 170372475 single base substitution G A intron_variant MELA-AU 2 170373398 170373398 single base substitution C T downstream_gene_variant MELA-AU 2 170373398 170373398 single base substitution C T intron_variant MELA-AU 2 170373425 170373425 single base substitution G A downstream_gene_variant MELA-AU 2 170373425 170373425 single base substitution G A intron_variant MELA-AU 2 170374799 170374799 single base substitution C T downstream_gene_variant MELA-AU 2 170374799 170374799 single base substitution C T exon_variant MELA-AU 2 170374799 170374799 single base substitution C T synonymous_variant V492V 1476C>T MELA-AU 2 170377028 170377028 single base substitution C T intron_variant MELA-AU 2 170377381 170377381 single base substitution A T exon_variant MELA-AU 2 170377381 170377381 single base substitution A T missense_variant M525L 1573A>T MELA-AU 2 170378195 170378195 single base substitution C A downstream_gene_variant MELA-AU 2 170378195 170378195 single base substitution C A intron_variant MELA-AU 2 170378197 170378197 single base substitution C A downstream_gene_variant MELA-AU 2 170378197 170378197 single base substitution C A intron_variant MELA-AU 2 170378304 170378304 single base substitution G C downstream_gene_variant MELA-AU 2 170378304 170378304 single base substitution G C intron_variant MELA-AU 2 170378339 170378339 single base substitution C T downstream_gene_variant MELA-AU 2 170378339 170378339 single base substitution C T intron_variant MELA-AU 2 170378926 170378926 single base substitution T A downstream_gene_variant MELA-AU 2 170378926 170378926 single base substitution T A intron_variant MELA-AU 2 170379521 170379521 single base substitution C T downstream_gene_variant MELA-AU 2 170379521 170379521 single base substitution C T intron_variant MELA-AU 2 170379654 170379655 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 170379654 170379655 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 170379729 170379729 single base substitution A T downstream_gene_variant MELA-AU 2 170379729 170379729 single base substitution A T intron_variant MELA-AU 2 170379790 170379790 single base substitution C T downstream_gene_variant MELA-AU 2 170379790 170379790 single base substitution C T intron_variant MELA-AU 2 170380924 170380924 single base substitution A G downstream_gene_variant MELA-AU 2 170380924 170380924 single base substitution A G intron_variant MELA-AU 2 170382533 170382533 deletion of <=200bp A - 3_prime_UTR_variant MELA-AU 2 170382693 170382693 single base substitution C T 3_prime_UTR_variant MELA-AU 2 170382741 170382741 single base substitution C A 3_prime_UTR_variant MELA-AU 2 170383765 170383765 single base substitution T C downstream_gene_variant MELA-AU 2 170384546 170384546 single base substitution G A downstream_gene_variant MELA-AU 2 170385289 170385289 single base substitution A G downstream_gene_variant MELA-AU 2 170385342 170385342 single base substitution C T downstream_gene_variant MELA-AU 2 170385399 170385399 single base substitution C T downstream_gene_variant MELA-AU 2 170386806 170386806 single base substitution C T downstream_gene_variant MELA-AU 2 170386831 170386831 single base substitution C A downstream_gene_variant ORCA-IN 2 170371844 170371844 single base substitution C T downstream_gene_variant ORCA-IN 2 170371844 170371844 single base substitution C T intron_variant OV-AU 2 170368288 170368288 single base substitution T A intron_variant OV-AU 2 170368288 170368288 single base substitution T A upstream_gene_variant OV-AU 2 170373360 170373360 single base substitution C T downstream_gene_variant OV-AU 2 170373360 170373360 single base substitution C T intron_variant OV-AU 2 170384830 170384830 single base substitution C G downstream_gene_variant OV-AU 2 170386979 170386979 single base substitution T C downstream_gene_variant PACA-AU 2 170373805 170373805 single base substitution C T downstream_gene_variant PACA-AU 2 170373805 170373805 single base substitution C T intron_variant PACA-AU 2 170374619 170374619 single base substitution C A downstream_gene_variant PACA-AU 2 170374619 170374619 single base substitution C A intron_variant PACA-AU 2 170378997 170378997 single base substitution G A downstream_gene_variant PACA-AU 2 170378997 170378997 single base substitution G A intron_variant PACA-AU 2 170387604 170387604 single base substitution C T downstream_gene_variant PACA-CA 2 170362488 170362488 single base substitution C T upstream_gene_variant PACA-CA 2 170363674 170363674 insertion of <=200bp - C upstream_gene_variant PACA-CA 2 170364231 170364231 insertion of <=200bp - T upstream_gene_variant PACA-CA 2 170365245 170365245 insertion of <=200bp - G upstream_gene_variant PACA-CA 2 170369416 170369429 deletion of <=200bp CCCCCACTCATTAA - intron_variant PACA-CA 2 170369416 170369429 deletion of <=200bp CCCCCACTCATTAA - upstream_gene_variant PACA-CA 2 170372757 170372757 single base substitution T C downstream_gene_variant PACA-CA 2 170372757 170372757 single base substitution T C intron_variant PACA-CA 2 170376518 170376518 single base substitution T C intron_variant PACA-CA 2 170379115 170379115 single base substitution T G downstream_gene_variant PACA-CA 2 170379115 170379115 single base substitution T G intron_variant PAEN-AU 2 170362135 170362135 single base substitution T G upstream_gene_variant PAEN-AU 2 170375435 170375435 single base substitution T C downstream_gene_variant PAEN-AU 2 170375435 170375435 single base substitution T C intron_variant PBCA-DE 2 170364235 170364235 single base substitution T G upstream_gene_variant PBCA-DE 2 170373478 170373478 single base substitution C T downstream_gene_variant PBCA-DE 2 170373478 170373478 single base substitution C T intron_variant PBCA-DE 2 170381306 170381306 insertion of <=200bp - G downstream_gene_variant PBCA-DE 2 170381306 170381306 insertion of <=200bp - G intron_variant PBCA-DE 2 170381659 170381659 single base substitution C T downstream_gene_variant PBCA-DE 2 170381659 170381659 single base substitution C T intron_variant PBCA-DE 2 170382935 170382935 single base substitution C A downstream_gene_variant PRAD-CA 2 170369112 170369112 single base substitution C T intron_variant PRAD-CA 2 170369112 170369112 single base substitution C T upstream_gene_variant PRAD-CA 2 170376518 170376518 single base substitution T C intron_variant PRAD-UK 2 170361212 170361212 single base substitution G T upstream_gene_variant PRAD-UK 2 170366112 170366112 single base substitution G T upstream_gene_variant PRAD-UK 2 170372899 170372899 deletion of <=200bp T - downstream_gene_variant PRAD-UK 2 170372899 170372899 deletion of <=200bp T - intron_variant READ-US 2 170367020 170367020 single base substitution C A missense_variant S244R 732C>A READ-US 2 170367020 170367020 single base substitution C A upstream_gene_variant READ-US 2 170374733 170374733 insertion of <=200bp - A downstream_gene_variant READ-US 2 170374733 170374733 insertion of <=200bp - A exon_variant READ-US 2 170374733 170374733 insertion of <=200bp - A frameshift_variant P470P? SKCA-BR 2 170362469 170362518 deletion of <=200bp GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGA - upstream_gene_variant SKCA-BR 2 170362551 170362551 single base substitution G T upstream_gene_variant SKCA-BR 2 170364570 170364570 single base substitution C T upstream_gene_variant SKCA-BR 2 170368947 170368947 single base substitution C T intron_variant SKCA-BR 2 170368947 170368947 single base substitution C T upstream_gene_variant SKCA-BR 2 170371540 170371540 single base substitution C T downstream_gene_variant SKCA-BR 2 170371540 170371540 single base substitution C T intron_variant SKCA-BR 2 170372382 170372382 single base substitution A G downstream_gene_variant SKCA-BR 2 170372382 170372382 single base substitution A G intron_variant SKCA-BR 2 170372470 170372470 single base substitution C T downstream_gene_variant SKCA-BR 2 170372470 170372470 single base substitution C T intron_variant SKCA-BR 2 170372507 170372507 single base substitution C T downstream_gene_variant SKCA-BR 2 170372507 170372507 single base substitution C T intron_variant SKCA-BR 2 170375862 170375862 single base substitution T A downstream_gene_variant SKCA-BR 2 170375862 170375862 single base substitution T A intron_variant SKCA-BR 2 170376662 170376674 deletion of <=200bp CTGTGTGTGTGTG - intron_variant SKCA-BR 2 170380928 170380928 single base substitution C T downstream_gene_variant SKCA-BR 2 170380928 170380928 single base substitution C T intron_variant SKCA-BR 2 170381706 170381706 single base substitution C T downstream_gene_variant SKCA-BR 2 170381706 170381706 single base substitution C T intron_variant SKCA-BR 2 170381884 170381884 single base substitution C T downstream_gene_variant SKCA-BR 2 170381884 170381884 single base substitution C T intron_variant SKCA-BR 2 170384105 170384105 single base substitution G A downstream_gene_variant SKCA-BR 2 170384106 170384106 single base substitution G A downstream_gene_variant SKCA-BR 2 170384501 170384501 single base substitution T G downstream_gene_variant SKCA-BR 2 170387379 170387379 single base substitution C T downstream_gene_variant SKCM-US 2 170366325 170366325 single base substitution C T missense_variant L13F 37C>T SKCM-US 2 170366325 170366325 single base substitution C T upstream_gene_variant SKCM-US 2 170366384 170366384 single base substitution C T synonymous_variant F32F 96C>T SKCM-US 2 170366384 170366384 single base substitution C T upstream_gene_variant SKCM-US 2 170366961 170366961 single base substitution C T missense_variant R225C 673C>T SKCM-US 2 170366961 170366961 single base substitution C T upstream_gene_variant SKCM-US 2 170367264 170367264 single base substitution C T missense_variant L326F 976C>T SKCM-US 2 170367264 170367264 single base substitution C T upstream_gene_variant SKCM-US 2 170367288 170367288 single base substitution C T missense_variant P334S 1000C>T SKCM-US 2 170367288 170367288 single base substitution C T upstream_gene_variant SKCM-US 2 170377373 170377373 single base substitution G T missense_variant W522L 1565G>T SKCM-US 2 170377373 170377373 single base substitution G T splice_region_variant SKCM-US 2 170386370 170386370 single base substitution C T downstream_gene_variant STAD-US 2 170366496 170366496 insertion of <=200bp - A frameshift_variant K70K? STAD-US 2 170366496 170366496 insertion of <=200bp - A upstream_gene_variant STAD-US 2 170366496 170366496 single base substitution A G missense_variant K70E 208A>G STAD-US 2 170366496 170366496 single base substitution A G upstream_gene_variant STAD-US 2 170366566 170366566 single base substitution C G missense_variant S93C 278C>G STAD-US 2 170366566 170366566 single base substitution C G upstream_gene_variant STAD-US 2 170366712 170366712 single base substitution G A missense_variant G142R 424G>A STAD-US 2 170366712 170366712 single base substitution G A upstream_gene_variant STAD-US 2 170367065 170367065 single base substitution C T synonymous_variant F259F 777C>T STAD-US 2 170367065 170367065 single base substitution C T upstream_gene_variant STAD-US 2 170371384 170371384 insertion of <=200bp - A exon_variant STAD-US 2 170371384 170371384 insertion of <=200bp - A frameshift_variant V430D? STAD-US 2 170371385 170371385 insertion of <=200bp - A exon_variant STAD-US 2 170371385 170371385 insertion of <=200bp - A frameshift_variant V430V? STAD-US 2 170387195 170387195 single base substitution A C downstream_gene_variant THCA-SA 2 170366686 170366686 single base substitution G A missense_variant G133D 398G>A THCA-SA 2 170366686 170366686 single base substitution G A upstream_gene_variant THCA-US 2 170367185 170367185 single base substitution A C synonymous_variant G299G 897A>C THCA-US 2 170367185 170367185 single base substitution A C upstream_gene_variant THCA-US 2 170367329 170367329 single base substitution A T synonymous_variant I347I 1041A>T THCA-US 2 170367329 170367329 single base substitution A T upstream_gene_variant UCEC-US 2 170366364 170366364 single base substitution C A missense_variant L26I 76C>A UCEC-US 2 170366364 170366364 single base substitution C A upstream_gene_variant UCEC-US 2 170366462 170366462 single base substitution C G missense_variant F58L 174C>G UCEC-US 2 170366462 170366462 single base substitution C G upstream_gene_variant UCEC-US 2 170366982 170366982 single base substitution T G missense_variant F232V 694T>G UCEC-US 2 170366982 170366982 single base substitution T G upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BT-A0YX-01 COSM418488 c.876G>A p.L292L Substitution - coding silent 2:169510654-169510654 + WSU-HN12 COSM4601287 c.497G>T p.C166F Substitution - Missense 2:169510275-169510275 + TCGA-AN-A046-01 COSM3837363 c.1675G>T p.E559* Substitution - Nonsense 2:169520973-169520973 + Gp5D COSM392440 c.208delA p.K72fs*3 Deletion - Frameshift 2:169509986-169509986 + TCGA-A8-A08J-01 COSM441471 c.880G>A p.D294N Substitution - Missense 2:169510658-169510658 + HCT116 COSM1401090 c.300C>T p.D100D Substitution - coding silent 2:169510078-169510078 + LUAD-5V8LT COSM402046 c.614G>T p.R205L Substitution - Missense 2:169510392-169510392 + HCT-15 COSM1669402 c.619G>T p.D207Y Substitution - Missense 2:169510397-169510397 + RK120_C01 COSM3702004 c.691T>C p.Y231H Substitution - Missense 2:169510469-169510469 + HCC078T COSM5806267 c.328G>A p.A110T Substitution - Missense 2:169510106-169510106 + LUAD-S01356 COSM398166 c.742C>A p.L248I Substitution - Missense 2:169510520-169510520 + TCGA-ET-A39I-01 COSM3372475 c.1041A>T p.I347I Substitution - coding silent 2:169510819-169510819 + RK316_C01 COSM3702005 c.1269-2A>G p.? Unknown 2:169514852-169514852 + T207 COSM4694103 c.1289_1290insA p.L433fs*9 Insertion - Frameshift 2:169514874-169514875 + 2521252 COSM3315186 c.463C>T p.R155C Substitution - Missense 2:169510241-169510241 + 392 COSM4428245 c.1238C>T p.S413L Substitution - Missense 2:169514701-169514701 + CSCC-29-T COSM4489455 c.347C>T p.P116L Substitution - Missense 2:169510125-169510125 + 417 COSM4431691 c.674G>A p.R225H Substitution - Missense 2:169510452-169510452 + GB18 COSM1743664 c.383A>G p.K128R Substitution - Missense 2:169510161-169510161 + LS180 COSM392440 c.208delA p.K72fs*3 Deletion - Frameshift 2:169509986-169509986 + TCGA-ER-A19P-06 COSM3569815 c.1565G>T p.W522L Substitution - Missense 2:169520863-169520863 + 587376 COSM1211364 c.187T>G p.L63V Substitution - Missense 2:169509965-169509965 + TCGA-CA-6717-01 COSM1401091 c.372T>G p.S124S Substitution - coding silent 2:169510150-169510150 + Pat_59_B COSM5860549 c.681G>A p.M227I Substitution - Missense 2:169510459-169510459 + TCGA-EK-A3GK-01 COSM4852839 c.1150C>T p.L384L Substitution - coding silent 2:169514613-169514613 + LUAD-S01315 COSM392440 c.208delA p.K72fs*3 Deletion - Frameshift 2:169509986-169509986 + LUAD-NYU201 COSM371388 c.1151T>C p.L384P Substitution - Missense 2:169514614-169514614 + TCGA-AG-A002-01 COSM261483 c.27G>T p.E9D Substitution - Missense 2:169509805-169509805 + Pat_14_B COSM392440 c.208delA p.K72fs*3 Deletion - Frameshift 2:169509986-169509986 + TCGA-FD-A3SS-01 COSM3798162 c.43C>T p.Q15* Substitution - Nonsense 2:169509821-169509821 + TCGA-G4-6625-01 COSM1401090 c.300C>T p.D100D Substitution - coding silent 2:169510078-169510078 + pfg009T COSM1641698 c.1376+4A>C p.? Unknown 2:169514965-169514965 + HCT15 COSM1669402 c.619G>T p.D207Y Substitution - Missense 2:169510397-169510397 + TCGA-AP-A056-01 COSM1009278 c.694T>G p.F232V Substitution - Missense 2:169510472-169510472 + Gp5D COSM4305702 c.213A>G p.K71K Substitution - coding silent 2:169509991-169509991 + pfg222T COSM4748080 c.932_933delAC p.T312fs*6 Deletion - Frameshift 2:169510710-169510711 + Pat_14_A COSM392440 c.208delA p.K72fs*3 Deletion - Frameshift 2:169509986-169509986 + STC246 COSM5058247 c.1654A>G p.M552V Substitution - Missense 2:169520952-169520952 + S00022 COSM312138 c.1175G>C p.G392A Substitution - Missense 2:169514638-169514638 + T2269 COSM4428245 c.1238C>T p.S413L Substitution - Missense 2:169514701-169514701 + pfg122T COSM392440 c.208delA p.K72fs*3 Deletion - Frameshift 2:169509986-169509986 + TCGA-GN-A266-06 COSM3895320 c.1000C>T p.P334S Substitution - Missense 2:169510778-169510778 + 12586 COSM5614971 c.1162A>G p.R388G Substitution - Missense 2:169514625-169514625 + 585276 COSM321097 c.619G>A p.D207N Substitution - Missense 2:169510397-169510397 + LUAD-NYU508 COSM374800 c.1455T>A p.R485R Substitution - coding silent 2:169518268-169518268 + RK178_C01 COSM3743309 c.174C>T p.F58F Substitution - coding silent 2:169509952-169509952 + SNUH_G10_S1 COSM4001311 c.811G>A p.A271T Substitution - Missense 2:169510589-169510589 + TCGA-EE-A2MR-06 COSM3569814 c.976C>T p.L326F Substitution - Missense 2:169510754-169510754 + T276 COSM392440 c.208delA p.K72fs*3 Deletion - Frameshift 2:169509986-169509986 + TCGA-CG-4437-01 COSM4086630 c.278C>G p.S93C Substitution - Missense 2:169510056-169510056 + TCGA-AP-A0LM-01 COSM1009276 c.76C>A p.L26I Substitution - Missense 2:169509854-169509854 + TCGA-B0-5088-01 COSM476196 c.1332A>T p.S444S Substitution - coding silent 2:169514917-169514917 + S00833 COSM312139 c.1552A>T p.T518S Substitution - Missense 2:169518365-169518365 + HCT8 COSM4634634 c.1471G>A p.A491T Substitution - Missense 2:169518284-169518284 + TCGA-A2-A0T5-01 COSM3837362 c.828T>G p.G276G Substitution - coding silent 2:169510606-169510606 + LS174T COSM392440 c.208delA p.K72fs*3 Deletion - Frameshift 2:169509986-169509986 + T3262 COSM4694104 c.1723delA p.E577fs*6 Deletion - Frameshift 2:169525598-169525598 + TCGA-EK-A2RK-01 COSM4828963 c.376C>T p.L126F Substitution - Missense 2:169510154-169510154 + SNU-283 COSM3315203 c.1674A>G p.K558K Substitution - coding silent 2:169520972-169520972 + TCGA-D3-A5GO-06 COSM3569811 c.37C>T p.L13F Substitution - Missense 2:169509815-169509815 + QC2-03-T2 COSM5651682 c.1578C>T p.T526T Substitution - coding silent 2:169520876-169520876 + TCGA-BH-A18U-01 COSM441468 c.191C>G p.S64C Substitution - Missense 2:169509969-169509969 + Au3 COSM5601665 c.458C>T p.S153F Substitution - Missense 2:169510236-169510236 + sysucc-1317T COSM5449536 c.467A>G p.E156G Substitution - Missense 2:169510245-169510245 + TCGA-EB-A3Y7-01 COSM3569813 c.673C>T p.R225C Substitution - Missense 2:169510451-169510451 + ESCC_25 COSM5626776 c.1595G>C p.R532T Substitution - Missense 2:169520893-169520893 + RK122_C01 COSM3743310 c.1395G>T p.V465V Substitution - coding silent 2:169518208-169518208 + TCGA-06-2564-01 COSM3407046 c.1726A>G p.K576E Substitution - Missense 2:169525601-169525601 + PTC-28C COSM4133231 c.844G>C p.V282L Substitution - Missense 2:169510622-169510622 + LUAD-S01409 COSM346640 c.568G>T p.V190L Substitution - Missense 2:169510346-169510346 + PT37 COSM3895320 c.1000C>T p.P334S Substitution - Missense 2:169510778-169510778 + BD236T COSM5518341 c.1702_1703delAT p.I568fs*4 Deletion - Frameshift 2:169521000-169521001 + TCGA-GM-A2DC-01 COSM3837361 c.561C>T p.S187S Substitution - coding silent 2:169510339-169510339 + TCGA-FD-A3SM-01 COSM3798163 c.1129G>A p.E377K Substitution - Missense 2:169514592-169514592 + PT42 COSM5924935 c.527C>T p.P176L Substitution - Missense 2:169510305-169510305 + TCGA-A5-A0GX-01 COSM1009277 c.174C>G p.F58L Substitution - Missense 2:169509952-169509952 + sysucc-882T COSM5447420 c.809C>T p.A270V Substitution - Missense 2:169510587-169510587 + SA099 COSM213677 c.425G>C p.G142A Substitution - Missense 2:169510203-169510203 + Gp2D COSM392440 c.208delA p.K72fs*3 Deletion - Frameshift 2:169509986-169509986 + TCGA-DB-5281-01 COSM3971711 c.1454G>A p.R485H Substitution - Missense 2:169518267-169518267 + TCGA-EI-6917-01 COSM3425436 c.732C>A p.S244R Substitution - Missense 2:169510510-169510510 + TCGA-HU-A4GP-01 COSM4086631 c.424G>A p.G142R Substitution - Missense 2:169510202-169510202 + TCGA-FK-A3SD-01 COSM3372474 c.897A>C p.G299G Substitution - coding silent 2:169510675-169510675 + TCGA-66-2742-01 COSM717805 c.327G>A p.L109L Substitution - coding silent 2:169510105-169510105 + RK182_C01 COSM1631437 c.1569T>C p.D523D Substitution - coding silent 2:169520867-169520867 + T3503 COSM4694103 c.1289_1290insA p.L433fs*9 Insertion - Frameshift 2:169514874-169514875 + PT35 COSM5911666 c.781G>A p.G261S Substitution - Missense 2:169510559-169510559 + 70 COSM5010914 c.750A>C p.K250N Substitution - Missense 2:169510528-169510528 + 587226 COSM1184507 c.1322A>G p.N441S Substitution - Missense 2:169514907-169514907 + SNU-C4 COSM4653363 c.959C>T p.T320M Substitution - Missense 2:169510737-169510737 + TCGA-BR-8487-01 COSM4086632 c.777C>T p.F259F Substitution - coding silent 2:169510555-169510555 + pfg016T COSM1641697 c.1290_1291insA p.L433fs*9 Insertion - Frameshift 2:169514875-169514876 + TCGA-BH-A18V-01 COSM441470 c.598G>C p.V200L Substitution - Missense 2:169510376-169510376 + TCGA-EB-A3Y7-01 COSM3569812 c.96C>T p.F32F Substitution - coding silent 2:169509874-169509874 + T2999 COSM4694105 c.1757G>A p.R586H Substitution - Missense 2:169525632-169525632 + DLD1 COSM1669402 c.619G>T p.D207Y Substitution - Missense 2:169510397-169510397 + TCGA-BH-A18J-01 COSM441469 c.289G>C p.D97H Substitution - Missense 2:169510067-169510067 + BD54T COSM5501847 c.110T>G p.L37R Substitution - Missense 2:169509888-169509888 + S00832 COSM5660877 c.987delG p.A330fs*21 Deletion - Frameshift 2:169510765-169510765 + EGC15 COSM392440 c.208delA p.K72fs*3 Deletion - Frameshift 2:169509986-169509986 + CSCC-11-T COSM4547316 c.419G>A p.R140K Substitution - Missense 2:169510197-169510197 + 426 COSM4432896 c.464G>A p.R155H Substitution - Missense 2:169510242-169510242 + TCGA-BR-8487-01 COSM3315179 c.208A>G p.K70E Substitution - Missense 2:169509986-169509986 + CSCC-40-T COSM4448886 c.1407delC p.G473fs*9 Deletion - Frameshift 2:169518220-169518220 + S00022 COSM312138 c.1175G>C p.G392A Substitution - Missense 2:169514638-169514638 + T263 COSM392440 c.208delA p.K72fs*3 Deletion - Frameshift 2:169509986-169509986 + CCK81 COSM3315199 c.1285G>A p.E429K Substitution - Missense 2:169514870-169514870 + 587350 COSM1211363 c.175C>T p.R59C Substitution - Missense 2:169509953-169509953 + TCGA-EI-6507-01 COSM1564698 c.1410_1411insA p.G473fs*22 Insertion - Frameshift 2:169518223-169518224 + TCGA-D5-6541-01 COSM1401092 c.685_686insA p.Y231fs*3 Insertion - Frameshift 2:169510463-169510464 + TCGA-63-5131-01 COSM717804 c.1417G>A p.G473R Substitution - Missense 2:169518230-169518230 + S00833 COSM312139 c.1552A>T p.T518S Substitution - Missense 2:169518365-169518365 + EOPC-03_tumor COSM1401090 c.300C>T p.D100D Substitution - coding silent 2:169510078-169510078 + TCGA-34-2596-01 COSM717806 c.278C>T p.S93F Substitution - Missense 2:169510056-169510056 + ATL072 COSM5707861 c.920T>C p.L307P Substitution - Missense 2:169510698-169510698 + TCGA-60-2720-01 COSM717807 c.178G>C p.E60Q Substitution - Missense 2:169509956-169509956 + T1154 COSM4694102 c.704A>G p.H235R Substitution - Missense 2:169510482-169510482 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.50550 2q31.1 607701

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.K72Rfs*3 c.215delA 2 170366496 LUAD A - Frameshift p.K72Rfs*3 c.215delA 2 170366496 THCA - A Frameshift p.L433Tfs*9 c.1296dupA 2 170371386 STAD A G Missense p.R388G c.1162A>G 2 170371135 NSCLC A T Missense p.K253N c.759A>T 2 170367047 LUAD A T Missense p.T518S c.1552A>T 2 170374875 SCLC C A Missense p.L364I c.1090C>A 2 170367378 CM C A Missense p.L37I c.109C>A 2 170366397 STAD C G Missense p.F58L c.174C>G 2 170366462 UCEC C G Missense p.S64C c.191C>G 2 170366479 BRCA C G Missense p.S93C c.278C>G 2 170366566 STAD C T Missense p.L19F c.55C>T 2 170366343 HNSC C T Missense p.L326F c.976C>T 2 170367264 CM C T Missense p.S93F c.278C>T 2 170366566 LUSC G A Missense p.D207N c.619G>A 2 170366907 SCLC G A Missense p.D294N c.880G>A 2 170367168 BRCA G C Missense p.D97H c.289G>C 2 170366577 BRCA G C Missense p.E60Q c.178G>C 2 170366466 LUSC G C Missense p.G142A c.425G>C 2 170366713 BRCA G C Missense p.G392A c.1175G>C 2 170371148 SCLC G C Missense p.V200L c.598G>C 2 170366886 BRCA T G Missense p.I152M c.456T>G 2 170366744 CM