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 136511779 136511779 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr2:136511779C>G c.265C>G c.(265-267)Ccc>Gcc p.P89A BLCA 2 136511812 136511812 + Missense_Mutation SNP G G C TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr2:136511812G>C c.298G>C c.(298-300)Gat>Cat p.D100H BLCA 2 136519444 136519444 + Nonsense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 g.chr2:136519444C>T c.565C>T c.(565-567)Cag>Tag p.Q189* BLCA 2 136528229 136528229 + Missense_Mutation SNP G G C TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr2:136528229G>C c.746G>C c.(745-747)aGa>aCa p.R249T BLCA 2 136530022 136530022 + Missense_Mutation SNP G G C TCGA-GU-A764-01A-11D-A34U-08 TCGA-GU-A764-10B-01D-A34X-08 g.chr2:136530022G>C c.855G>C c.(853-855)aaG>aaC p.K285N BRCA 2 136511807 136511807 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr2:136511807C>A c.293C>A c.(292-294)tCt>tAt p.S98Y BRCA 2 136513204 136513204 + Missense_Mutation SNP A A C TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 g.chr2:136513204A>C c.451A>C c.(451-453)Aat>Cat p.N151H BRCA 2 136519446 136519446 + Missense_Mutation SNP G G C TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 g.chr2:136519446G>C c.567G>C c.(565-567)caG>caC p.Q189H CESC 2 136499524 136499524 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr2:136499524C>T c.25C>T c.(25-27)Ccg>Tcg p.P9S CESC 2 136519420 136519420 + Nonsense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 g.chr2:136519420C>T c.541C>T c.(541-543)Cag>Tag p.Q181* CESC 2 136528140 136528140 + Splice_Site SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr2:136528140G>C c.e8-1 CESC 2 136528183 136528183 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr2:136528183G>T c.700G>T c.(700-702)Gaa>Taa p.E234* CESC 2 136540402 136540402 + Missense_Mutation SNP A A G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 g.chr2:136540402A>G c.1472A>G c.(1471-1473)gAt>gGt p.D491G CHOL 2 136513166 136513166 + Missense_Mutation SNP T T G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr2:136513166T>G c.413T>G c.(412-414)tTt>tGt p.F138C COAD 2 136511744 136511744 + Missense_Mutation SNP T T C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:136511744T>C c.230T>C c.(229-231)gTt>gCt p.V77A COAD 2 136513161 136513161 + Silent SNP G G A TCGA-AA-3979-01A-01W-0995-10 TCGA-AA-3979-10A-01W-0999-10 g.chr2:136513161G>A c.408G>A c.(406-408)gcG>gcA p.A136A COAD 2 136513168 136513168 + Nonsense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:136513168G>T c.415G>T c.(415-417)Gaa>Taa p.E139* COAD 2 136528144 136528144 + Nonsense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:136528144G>T c.661G>T c.(661-663)Gaa>Taa p.E221* COAD 2 136528170 136528170 + Frame_Shift_Del DEL A A - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr2:136528170delA c.687delA c.(685-687)agafs p.R229fs COAD 2 136530108 136530108 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:136530108G>T c.941G>T c.(940-942)aGa>aTa p.R314I COAD 2 136533901 136533901 + Missense_Mutation SNP G G T TCGA-AA-3681-01A-01W-0900-09 TCGA-AA-3681-10A-01W-0900-09 g.chr2:136533901G>T c.1033G>T c.(1033-1035)Gca>Tca p.A345S COAD 2 136536630 136536630 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr2:136536630C>T c.1166C>T c.(1165-1167)gCt>gTt p.A389V COAD 2 136540413 136540413 + Missense_Mutation SNP G G A TCGA-AA-A01D-01A-01W-A00E-09 TCGA-AA-A01D-10A-01W-A00E-09 g.chr2:136540413G>A c.1483G>A c.(1483-1485)Gat>Aat p.D495N COADREAD 2 136511744 136511744 + Missense_Mutation SNP T T C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:136511744T>C c.230T>C c.(229-231)gTt>gCt p.V77A COADREAD 2 136513161 136513161 + Silent SNP G G A TCGA-AA-3979-01A-01W-0995-10 TCGA-AA-3979-10A-01W-0999-10 g.chr2:136513161G>A c.408G>A c.(406-408)gcG>gcA p.A136A COADREAD 2 136513168 136513168 + Nonsense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:136513168G>T c.415G>T c.(415-417)Gaa>Taa p.E139* COADREAD 2 136528144 136528144 + Nonsense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:136528144G>T c.661G>T c.(661-663)Gaa>Taa p.E221* COADREAD 2 136528170 136528170 + Frame_Shift_Del DEL A A - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr2:136528170delA c.687delA c.(685-687)agafs p.R229fs COADREAD 2 136530108 136530108 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:136530108G>T c.941G>T c.(940-942)aGa>aTa p.R314I COADREAD 2 136533901 136533901 + Missense_Mutation SNP G G T TCGA-AA-3681-01A-01W-0900-09 TCGA-AA-3681-10A-01W-0900-09 g.chr2:136533901G>T c.1033G>T c.(1033-1035)Gca>Tca p.A345S COADREAD 2 136536630 136536630 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr2:136536630C>T c.1166C>T c.(1165-1167)gCt>gTt p.A389V COADREAD 2 136540413 136540413 + Missense_Mutation SNP G G A TCGA-AA-A01D-01A-01W-A00E-09 TCGA-AA-A01D-10A-01W-A00E-09 g.chr2:136540413G>A c.1483G>A c.(1483-1485)Gat>Aat p.D495N ESCA 2 136513152 136513152 + Silent SNP T T C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 g.chr2:136513152T>C c.399T>C c.(397-399)acT>acC p.T133T ESCA 2 136519420 136519420 + Nonsense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 g.chr2:136519420C>T c.541C>T c.(541-543)Cag>Tag p.Q181* ESCA 2 136528170 136528170 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr2:136528170delA c.687delA c.(685-687)agafs p.R229fs ESCA 2 136537813 136537813 + Missense_Mutation SNP G G C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 g.chr2:136537813G>C c.1246G>C c.(1246-1248)Gga>Cga p.G416R GBMLGG 2 136513157 136513157 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:136513157C>T c.404C>T c.(403-405)tCt>tTt p.S135F HNSC 2 136499519 136499519 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 g.chr2:136499519C>G c.20C>G c.(19-21)gCc>gGc p.A7G HNSC 2 136499550 136499550 + Silent SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 g.chr2:136499550G>A c.51G>A c.(49-51)agG>agA p.R17R HNSC 2 136511787 136511787 + Silent SNP A A G TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 g.chr2:136511787A>G c.273A>G c.(271-273)gaA>gaG p.E91E HNSC 2 136528186 136528186 + Missense_Mutation SNP A A G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 g.chr2:136528186A>G c.703A>G c.(703-705)Atg>Gtg p.M235V HNSC 2 136528287 136528287 + Missense_Mutation SNP A A G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 g.chr2:136528287A>G c.804A>G c.(802-804)atA>atG p.I268M HNSC 2 136536546 136536546 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 g.chr2:136536546C>T c.1082C>T c.(1081-1083)tCg>tTg p.S361L HNSC 2 136537915 136537915 + Missense_Mutation SNP G G A TCGA-BB-4223-01A-01D-1434-08 TCGA-BB-4223-10A-01D-1434-08 g.chr2:136537915G>A c.1348G>A c.(1348-1350)Gaa>Aaa p.E450K KIPAN 2 136511791 136511791 + Missense_Mutation SNP A A C TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 g.chr2:136511791A>C c.277A>C c.(277-279)Ata>Cta p.I93L KIRC 2 136511791 136511791 + Missense_Mutation SNP A A C TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 g.chr2:136511791A>C c.277A>C c.(277-279)Ata>Cta p.I93L LGG 2 136513157 136513157 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:136513157C>T c.404C>T c.(403-405)tCt>tTt p.S135F LIHC 2 136513213 136513213 + Missense_Mutation SNP C C T TCGA-CC-A3MC-01A-11D-A22F-10 TCGA-CC-A3MC-10A-01D-A22F-10 g.chr2:136513213C>T c.460C>T c.(460-462)Ctt>Ttt p.L154F LIHC 2 136540331 136540331 + Frame_Shift_Del DEL A A - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr2:136540331delA c.1401delA c.(1399-1401)agafs p.R467fs LUAD 2 136505934 136505934 + Silent SNP C C G TCGA-62-A470-01A-11D-A24D-08 TCGA-62-A470-10A-01D-A24F-08 g.chr2:136505934C>G c.180C>G c.(178-180)acC>acG p.T60T LUAD 2 136519471 136519471 + Nonsense_Mutation SNP C C T TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr2:136519471C>T c.592C>T c.(592-594)Cga>Tga p.R198* LUAD 2 136527345 136527345 + Silent SNP A A G TCGA-86-8278-01A-11D-2284-08 TCGA-86-8278-10A-01D-2284-08 g.chr2:136527345A>G c.609A>G c.(607-609)acA>acG p.T203T LUAD 2 136528276 136528276 + Nonsense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 g.chr2:136528276C>T c.793C>T c.(793-795)Cga>Tga p.R265* LUAD 2 136536527 136536527 + Missense_Mutation SNP A A T TCGA-17-Z030-01A-01W-0746-08 TCGA-17-Z030-11A-01W-0746-08 g.chr2:136536527A>T c.1063A>T c.(1063-1065)Aac>Tac p.N355Y LUAD 2 136536537 136536537 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 g.chr2:136536537G>T c.1073G>T c.(1072-1074)gGt>gTt p.G358V LUAD 2 136537772 136537772 + Missense_Mutation SNP C C T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 g.chr2:136537772C>T c.1205C>T c.(1204-1206)tCc>tTc p.S402F LUAD 2 136537773 136537773 + Silent SNP C C T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 g.chr2:136537773C>T c.1206C>T c.(1204-1206)tcC>tcT p.S402S LUSC 2 136519470 136519470 + Silent SNP C C T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 g.chr2:136519470C>T c.591C>T c.(589-591)atC>atT p.I197I LUSC 2 136528164 136528164 + Missense_Mutation SNP G G C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr2:136528164G>C c.681G>C c.(679-681)gaG>gaC p.E227D LUSC 2 136530083 136530083 + Missense_Mutation SNP G G C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 g.chr2:136530083G>C c.916G>C c.(916-918)Gaa>Caa p.E306Q LUSC 2 136537796 136537796 + Missense_Mutation SNP A A C TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 g.chr2:136537796A>C c.1229A>C c.(1228-1230)gAc>gCc p.D410A LUSC 2 136537802 136537802 + Missense_Mutation SNP G G T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 g.chr2:136537802G>T c.1235G>T c.(1234-1236)tGg>tTg p.W412L PAAD 2 136513182 136513182 + Silent SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:136513182T>G c.429T>G c.(427-429)acT>acG p.T143T PAAD 2 136533888 136533888 + Silent SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:136533888T>G c.1020T>G c.(1018-1020)gcT>gcG p.A340A PAAD 2 136540441 136540441 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:136540441C>T c.1511C>T c.(1510-1512)tCc>tTc p.S504F PRAD 2 136527363 136527363 + Silent SNP G G A TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 g.chr2:136527363G>A c.627G>A c.(625-627)agG>agA p.R209R PRAD 2 136536538 136536540 + In_Frame_Del DEL TAA TAA - TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 g.chr2:136536538_136536540delTAA c.1074_1076delTAA c.(1072-1077)ggtaat>ggt p.N359del PRAD 2 136537785 136537785 + Frame_Shift_Del DEL T T - TCGA-M7-A71Z-01A-12D-A32B-08 TCGA-M7-A71Z-10A-01D-A329-08 g.chr2:136537785delT c.1218delT c.(1216-1218)tctfs p.S408fs SARC 2 136530072 136530072 + Missense_Mutation SNP A A G TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 g.chr2:136530072A>G c.905A>G c.(904-906)cAg>cGg p.Q302R SKCM 2 136505928 136505928 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 g.chr2:136505928C>T c.174C>T c.(172-174)atC>atT p.I58I SKCM 2 136519433 136519433 + Missense_Mutation SNP G G A TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 g.chr2:136519433G>A c.554G>A c.(553-555)gGa>gAa p.G185E SKCM 2 136533860 136533860 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr2:136533860C>T c.992C>T c.(991-993)tCc>tTc p.S331F SKCM 2 136537829 136537829 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:136537829C>T c.1262C>T c.(1261-1263)cCa>cTa p.P421L SKCM 2 136537915 136537915 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr2:136537915G>A c.1348G>A c.(1348-1350)Gaa>Aaa p.E450K

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 2 136505881 136505881 single base substitution G T exon_variant BLCA-CN 2 136505881 136505881 single base substitution G T missense_variant D43Y 127G>T BLCA-CN 2 136505881 136505881 single base substitution G T missense_variant D79Y 235G>T BLCA-CN 2 136513195 136513195 single base substitution C G 3_prime_UTR_variant BLCA-CN 2 136513195 136513195 single base substitution C G downstream_gene_variant BLCA-CN 2 136513195 136513195 single base substitution C G exon_variant BLCA-CN 2 136513195 136513195 single base substitution C G missense_variant Q148E 442C>G BLCA-US 2 136519444 136519444 single base substitution C T 3_prime_UTR_variant BLCA-US 2 136519444 136519444 single base substitution C T intron_variant BLCA-US 2 136519444 136519444 single base substitution C T stop_gained Q189* 565C>T BRCA-EU 2 136494207 136494207 single base substitution T A upstream_gene_variant BRCA-EU 2 136494558 136494558 single base substitution A C upstream_gene_variant BRCA-EU 2 136495656 136495656 single base substitution C T upstream_gene_variant BRCA-EU 2 136496313 136496313 single base substitution T C upstream_gene_variant BRCA-EU 2 136496844 136496844 insertion of <=200bp - T upstream_gene_variant BRCA-EU 2 136496913 136496913 single base substitution G C upstream_gene_variant BRCA-EU 2 136497813 136497813 single base substitution G A upstream_gene_variant BRCA-EU 2 136498298 136498298 single base substitution G C upstream_gene_variant BRCA-EU 2 136498679 136498679 single base substitution G C upstream_gene_variant BRCA-EU 2 136498731 136498731 single base substitution G C upstream_gene_variant BRCA-EU 2 136499029 136499029 single base substitution A C upstream_gene_variant BRCA-EU 2 136499307 136499342 deletion of <=200bp AGGTGTTCTCGCGCGCGCTAGCGCGCGTCTCCGGGT - 5_prime_UTR_variant BRCA-EU 2 136499307 136499342 deletion of <=200bp AGGTGTTCTCGCGCGCGCTAGCGCGCGTCTCCGGGT - upstream_gene_variant BRCA-EU 2 136499760 136499760 single base substitution G C intron_variant BRCA-EU 2 136499760 136499760 single base substitution G C upstream_gene_variant BRCA-EU 2 136499833 136499833 single base substitution G A intron_variant BRCA-EU 2 136499833 136499833 single base substitution G A upstream_gene_variant BRCA-EU 2 136500253 136500253 single base substitution G C exon_variant BRCA-EU 2 136500253 136500253 single base substitution G C intron_variant BRCA-EU 2 136501189 136501189 single base substitution G A intron_variant BRCA-EU 2 136501189 136501189 single base substitution G A upstream_gene_variant BRCA-EU 2 136501472 136501472 single base substitution G A intron_variant BRCA-EU 2 136501472 136501472 single base substitution G A upstream_gene_variant BRCA-EU 2 136502534 136502534 single base substitution G C intron_variant BRCA-EU 2 136502534 136502534 single base substitution G C upstream_gene_variant BRCA-EU 2 136503240 136503240 single base substitution C T intron_variant BRCA-EU 2 136503240 136503240 single base substitution C T upstream_gene_variant BRCA-EU 2 136503925 136503925 single base substitution T G intron_variant BRCA-EU 2 136503925 136503925 single base substitution T G upstream_gene_variant BRCA-EU 2 136504869 136504869 single base substitution G C intron_variant BRCA-EU 2 136504869 136504869 single base substitution G C upstream_gene_variant BRCA-EU 2 136506172 136506172 single base substitution C T downstream_gene_variant BRCA-EU 2 136506172 136506172 single base substitution C T intron_variant BRCA-EU 2 136508041 136508041 single base substitution A T downstream_gene_variant BRCA-EU 2 136508041 136508041 single base substitution A T intron_variant BRCA-EU 2 136508041 136508041 single base substitution A T upstream_gene_variant BRCA-EU 2 136508881 136508881 single base substitution C T downstream_gene_variant BRCA-EU 2 136508881 136508881 single base substitution C T intron_variant BRCA-EU 2 136508881 136508881 single base substitution C T upstream_gene_variant BRCA-EU 2 136508993 136508993 single base substitution C T downstream_gene_variant BRCA-EU 2 136508993 136508993 single base substitution C T intron_variant BRCA-EU 2 136508993 136508993 single base substitution C T upstream_gene_variant BRCA-EU 2 136510171 136510171 single base substitution G A downstream_gene_variant BRCA-EU 2 136510171 136510171 single base substitution G A intron_variant BRCA-EU 2 136510171 136510171 single base substitution G A upstream_gene_variant BRCA-EU 2 136511043 136511043 single base substitution A T intron_variant BRCA-EU 2 136511043 136511043 single base substitution A T upstream_gene_variant BRCA-EU 2 136511532 136511532 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 136511532 136511532 single base substitution G A intron_variant BRCA-EU 2 136511532 136511532 single base substitution G A upstream_gene_variant BRCA-EU 2 136513337 136513337 single base substitution A T downstream_gene_variant BRCA-EU 2 136513337 136513337 single base substitution A T intron_variant BRCA-EU 2 136516027 136516027 single base substitution T C downstream_gene_variant BRCA-EU 2 136516027 136516027 single base substitution T C intron_variant BRCA-EU 2 136517005 136517005 single base substitution A C downstream_gene_variant BRCA-EU 2 136517005 136517005 single base substitution A C intron_variant BRCA-EU 2 136518924 136518924 single base substitution C T intron_variant BRCA-EU 2 136520146 136520146 single base substitution G T downstream_gene_variant BRCA-EU 2 136520146 136520146 single base substitution G T intron_variant BRCA-EU 2 136520609 136520609 single base substitution G C downstream_gene_variant BRCA-EU 2 136520609 136520609 single base substitution G C intron_variant BRCA-EU 2 136522001 136522001 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 136522001 136522001 deletion of <=200bp A - intron_variant BRCA-EU 2 136522001 136522001 single base substitution A T downstream_gene_variant BRCA-EU 2 136522001 136522001 single base substitution A T intron_variant BRCA-EU 2 136522215 136522264 multiple base substitution (>=2bp and <=200bp) GGCATGCACCACCACACCCGGCTAATTTTTAAAATATTTTTAGTAGCAAC GGTGCCCACCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGGCA downstream_gene_variant BRCA-EU 2 136522215 136522264 multiple base substitution (>=2bp and <=200bp) GGCATGCACCACCACACCCGGCTAATTTTTAAAATATTTTTAGTAGCAAC GGTGCCCACCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGGCA intron_variant BRCA-EU 2 136522713 136522713 single base substitution G A downstream_gene_variant BRCA-EU 2 136522713 136522713 single base substitution G A intron_variant BRCA-EU 2 136524446 136524446 single base substitution A C downstream_gene_variant BRCA-EU 2 136524446 136524446 single base substitution A C intron_variant BRCA-EU 2 136525473 136525473 single base substitution A G intron_variant BRCA-EU 2 136525473 136525473 single base substitution A G upstream_gene_variant BRCA-EU 2 136525608 136525608 single base substitution A G intron_variant BRCA-EU 2 136525608 136525608 single base substitution A G upstream_gene_variant BRCA-EU 2 136526390 136526390 single base substitution C A intron_variant BRCA-EU 2 136526390 136526390 single base substitution C A upstream_gene_variant BRCA-EU 2 136527084 136527084 single base substitution G A intron_variant BRCA-EU 2 136527084 136527084 single base substitution G A upstream_gene_variant BRCA-EU 2 136527559 136527559 deletion of <=200bp T - intron_variant BRCA-EU 2 136527559 136527559 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 136528220 136528220 single base substitution T G exon_variant BRCA-EU 2 136528220 136528220 single base substitution T G stop_gained L246* 737T>G BRCA-EU 2 136528220 136528220 single base substitution T G upstream_gene_variant BRCA-EU 2 136528771 136528771 single base substitution C G intron_variant BRCA-EU 2 136528771 136528771 single base substitution C G upstream_gene_variant BRCA-EU 2 136529798 136529798 single base substitution G T intron_variant BRCA-EU 2 136529798 136529798 single base substitution G T upstream_gene_variant BRCA-EU 2 136530111 136530111 deletion of <=200bp A - exon_variant BRCA-EU 2 136530111 136530111 deletion of <=200bp A - frameshift_variant E315 BRCA-EU 2 136531508 136531508 single base substitution G C intron_variant BRCA-EU 2 136531793 136531793 single base substitution T G intron_variant BRCA-EU 2 136532623 136532623 single base substitution C T intron_variant BRCA-EU 2 136532919 136532919 single base substitution G A intron_variant BRCA-EU 2 136533004 136533004 single base substitution A G intron_variant BRCA-EU 2 136533205 136533205 single base substitution G A intron_variant BRCA-EU 2 136535459 136535461 deletion of <=200bp AAC - intron_variant BRCA-EU 2 136535639 136535639 single base substitution C T intron_variant BRCA-EU 2 136535699 136535699 single base substitution A G intron_variant BRCA-EU 2 136536256 136536256 single base substitution C G intron_variant BRCA-EU 2 136537223 136537223 deletion of <=200bp T - intron_variant BRCA-EU 2 136539480 136539480 insertion of <=200bp - A downstream_gene_variant BRCA-EU 2 136539480 136539480 insertion of <=200bp - A intron_variant BRCA-EU 2 136539831 136539831 single base substitution A C downstream_gene_variant BRCA-EU 2 136539831 136539831 single base substitution A C intron_variant BRCA-EU 2 136540416 136540416 single base substitution G T downstream_gene_variant BRCA-EU 2 136540416 136540416 single base substitution G T exon_variant BRCA-EU 2 136540416 136540416 single base substitution G T stop_gained E496* 1486G>T BRCA-EU 2 136541524 136541524 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 136541524 136541524 single base substitution G A downstream_gene_variant BRCA-EU 2 136541524 136541524 single base substitution G A exon_variant BRCA-EU 2 136541982 136541982 single base substitution T C 3_prime_UTR_variant BRCA-EU 2 136541982 136541982 single base substitution T C downstream_gene_variant BRCA-EU 2 136541982 136541982 single base substitution T C exon_variant BRCA-EU 2 136543927 136543927 single base substitution C T downstream_gene_variant BRCA-EU 2 136545155 136545155 single base substitution A G downstream_gene_variant BRCA-EU 2 136545645 136545645 insertion of <=200bp - AC downstream_gene_variant BRCA-EU 2 136546233 136546233 single base substitution C T downstream_gene_variant BRCA-EU 2 136546526 136546526 single base substitution G A downstream_gene_variant BRCA-EU 2 136546870 136546870 single base substitution G C downstream_gene_variant BRCA-FR 2 136502534 136502534 single base substitution G C intron_variant BRCA-FR 2 136502534 136502534 single base substitution G C upstream_gene_variant BRCA-FR 2 136508993 136508993 single base substitution C T downstream_gene_variant BRCA-FR 2 136508993 136508993 single base substitution C T intron_variant BRCA-FR 2 136508993 136508993 single base substitution C T upstream_gene_variant BRCA-FR 2 136511532 136511532 single base substitution G A 3_prime_UTR_variant BRCA-FR 2 136511532 136511532 single base substitution G A intron_variant BRCA-FR 2 136511532 136511532 single base substitution G A upstream_gene_variant BRCA-FR 2 136513337 136513337 single base substitution A T downstream_gene_variant BRCA-FR 2 136513337 136513337 single base substitution A T intron_variant BRCA-FR 2 136517253 136517253 single base substitution A T downstream_gene_variant BRCA-FR 2 136517253 136517253 single base substitution A T intron_variant BRCA-FR 2 136520146 136520146 single base substitution G T downstream_gene_variant BRCA-FR 2 136520146 136520146 single base substitution G T intron_variant BRCA-FR 2 136531793 136531793 single base substitution T G intron_variant BRCA-FR 2 136532623 136532623 single base substitution C T intron_variant BRCA-UK 2 136494207 136494207 single base substitution T A upstream_gene_variant BRCA-UK 2 136499029 136499029 single base substitution A C upstream_gene_variant BRCA-UK 2 136505893 136505893 single base substitution G A exon_variant BRCA-UK 2 136505893 136505893 single base substitution G A missense_variant E47K 139G>A BRCA-UK 2 136505893 136505893 single base substitution G A missense_variant E83K 247G>A BRCA-UK 2 136536256 136536256 single base substitution C G intron_variant BRCA-US 2 136511807 136511807 single base substitution C A 3_prime_UTR_variant BRCA-US 2 136511807 136511807 single base substitution C A downstream_gene_variant BRCA-US 2 136511807 136511807 single base substitution C A exon_variant BRCA-US 2 136511807 136511807 single base substitution C A intron_variant BRCA-US 2 136511807 136511807 single base substitution C A missense_variant S98Y 293C>A BRCA-US 2 136513204 136513204 single base substitution A C 3_prime_UTR_variant BRCA-US 2 136513204 136513204 single base substitution A C downstream_gene_variant BRCA-US 2 136513204 136513204 single base substitution A C exon_variant BRCA-US 2 136513204 136513204 single base substitution A C missense_variant N151H 451A>C BRCA-US 2 136519446 136519446 single base substitution G C 3_prime_UTR_variant BRCA-US 2 136519446 136519446 single base substitution G C intron_variant BRCA-US 2 136519446 136519446 single base substitution G C missense_variant Q189H 567G>C BRCA-US 2 136547151 136547151 single base substitution G A downstream_gene_variant BTCA-JP 2 136511886 136511886 single base substitution G A downstream_gene_variant BTCA-JP 2 136511886 136511886 single base substitution G A intron_variant BTCA-JP 2 136513265 136513265 single base substitution A T downstream_gene_variant BTCA-JP 2 136513265 136513265 single base substitution A T splice_region_variant BTCA-JP 2 136527331 136527331 single base substitution T A splice_region_variant BTCA-JP 2 136527331 136527331 single base substitution T A upstream_gene_variant BTCA-JP 2 136527453 136527453 single base substitution A G intron_variant BTCA-JP 2 136527453 136527453 single base substitution A G upstream_gene_variant BTCA-JP 2 136527454 136527454 single base substitution T A intron_variant BTCA-JP 2 136527454 136527454 single base substitution T A upstream_gene_variant BTCA-JP 2 136537798 136537800 deletion of <=200bp ATT - downstream_gene_variant BTCA-JP 2 136537798 136537800 deletion of <=200bp ATT - exon_variant BTCA-JP 2 136537798 136537800 deletion of <=200bp ATT - inframe_deletion I411 BTCA-JP 2 136540324 136540324 single base substitution C T downstream_gene_variant BTCA-JP 2 136540324 136540324 single base substitution C T exon_variant BTCA-JP 2 136540324 136540324 single base substitution C T missense_variant P465L 1394C>T BTCA-JP 2 136547311 136547311 single base substitution A C downstream_gene_variant CESC-US 2 136499524 136499524 single base substitution C T exon_variant CESC-US 2 136499524 136499524 single base substitution C T missense_variant P9S 25C>T CESC-US 2 136499524 136499524 single base substitution C T upstream_gene_variant CESC-US 2 136519420 136519420 single base substitution C T 3_prime_UTR_variant CESC-US 2 136519420 136519420 single base substitution C T intron_variant CESC-US 2 136519420 136519420 single base substitution C T stop_gained Q181* 541C>T CESC-US 2 136528140 136528140 single base substitution G C splice_acceptor_variant CESC-US 2 136528140 136528140 single base substitution G C upstream_gene_variant CESC-US 2 136528183 136528183 single base substitution G T exon_variant CESC-US 2 136528183 136528183 single base substitution G T stop_gained E234* 700G>T CESC-US 2 136528183 136528183 single base substitution G T upstream_gene_variant CESC-US 2 136540402 136540402 single base substitution A G downstream_gene_variant CESC-US 2 136540402 136540402 single base substitution A G exon_variant CESC-US 2 136540402 136540402 single base substitution A G missense_variant D491G 1472A>G CESC-US 2 136546109 136546109 single base substitution C T downstream_gene_variant CESC-US 2 136547286 136547286 single base substitution C T downstream_gene_variant CLLE-ES 2 136530840 136530840 single base substitution C T intron_variant COAD-US 2 136513160 136513160 single base substitution C T 3_prime_UTR_variant COAD-US 2 136513160 136513160 single base substitution C T downstream_gene_variant COAD-US 2 136513160 136513160 single base substitution C T exon_variant COAD-US 2 136513160 136513160 single base substitution C T missense_variant A136V 407C>T COAD-US 2 136513168 136513168 single base substitution G T 3_prime_UTR_variant COAD-US 2 136513168 136513168 single base substitution G T downstream_gene_variant COAD-US 2 136513168 136513168 single base substitution G T exon_variant COAD-US 2 136513168 136513168 single base substitution G T stop_gained E139* 415G>T COAD-US 2 136528144 136528144 single base substitution G T exon_variant COAD-US 2 136528144 136528144 single base substitution G T stop_gained E221* 661G>T COAD-US 2 136528144 136528144 single base substitution G T upstream_gene_variant COAD-US 2 136528170 136528170 deletion of <=200bp A - exon_variant COAD-US 2 136528170 136528170 deletion of <=200bp A - frameshift_variant R229 COAD-US 2 136528170 136528170 deletion of <=200bp A - upstream_gene_variant COAD-US 2 136545955 136545955 single base substitution C T downstream_gene_variant COAD-US 2 136547302 136547302 single base substitution G A downstream_gene_variant COCA-CN 2 136499672 136499672 single base substitution C G intron_variant COCA-CN 2 136499672 136499672 single base substitution C G upstream_gene_variant COCA-CN 2 136513294 136513294 single base substitution G T downstream_gene_variant COCA-CN 2 136513294 136513294 single base substitution G T intron_variant COCA-CN 2 136527382 136527382 single base substitution G T exon_variant COCA-CN 2 136527382 136527382 single base substitution G T stop_gained E216* 646G>T COCA-CN 2 136527382 136527382 single base substitution G T upstream_gene_variant COCA-CN 2 136533841 136533841 single base substitution C T exon_variant COCA-CN 2 136533841 136533841 single base substitution C T missense_variant R325C 973C>T COCA-CN 2 136536547 136536547 single base substitution G A exon_variant COCA-CN 2 136536547 136536547 single base substitution G A synonymous_variant S361S 1083G>A COCA-CN 2 136537698 136537698 single base substitution C T intron_variant COCA-CN 2 136545931 136545931 single base substitution C T downstream_gene_variant EOPC-DE 2 136505354 136505354 single base substitution G A intron_variant EOPC-DE 2 136505354 136505354 single base substitution G A upstream_gene_variant ESAD-UK 2 136494231 136494231 single base substitution C A upstream_gene_variant ESAD-UK 2 136494731 136494731 single base substitution C G upstream_gene_variant ESAD-UK 2 136494756 136494756 insertion of <=200bp - AAC upstream_gene_variant ESAD-UK 2 136499122 136499122 single base substitution A C upstream_gene_variant ESAD-UK 2 136499122 136499122 single base substitution A T upstream_gene_variant ESAD-UK 2 136504307 136504307 single base substitution T G intron_variant ESAD-UK 2 136504307 136504307 single base substitution T G upstream_gene_variant ESAD-UK 2 136506083 136506083 single base substitution T G downstream_gene_variant ESAD-UK 2 136506083 136506083 single base substitution T G intron_variant ESAD-UK 2 136507650 136507650 single base substitution A G downstream_gene_variant ESAD-UK 2 136507650 136507650 single base substitution A G intron_variant ESAD-UK 2 136507650 136507650 single base substitution A G upstream_gene_variant ESAD-UK 2 136508751 136508751 insertion of <=200bp - G downstream_gene_variant ESAD-UK 2 136508751 136508751 insertion of <=200bp - G intron_variant ESAD-UK 2 136508751 136508751 insertion of <=200bp - G upstream_gene_variant ESAD-UK 2 136511842 136511842 single base substitution C G 3_prime_UTR_variant ESAD-UK 2 136511842 136511842 single base substitution C G downstream_gene_variant ESAD-UK 2 136511842 136511842 single base substitution C G exon_variant ESAD-UK 2 136511842 136511842 single base substitution C G intron_variant ESAD-UK 2 136511842 136511842 single base substitution C G missense_variant R110G 328C>G ESAD-UK 2 136512899 136512899 single base substitution A T downstream_gene_variant ESAD-UK 2 136512899 136512899 single base substitution A T intron_variant ESAD-UK 2 136512985 136512985 single base substitution C T downstream_gene_variant ESAD-UK 2 136512985 136512985 single base substitution C T intron_variant ESAD-UK 2 136515936 136515936 single base substitution G A downstream_gene_variant ESAD-UK 2 136515936 136515936 single base substitution G A intron_variant ESAD-UK 2 136517188 136517188 single base substitution G C downstream_gene_variant ESAD-UK 2 136517188 136517188 single base substitution G C intron_variant ESAD-UK 2 136517952 136517952 single base substitution G C downstream_gene_variant ESAD-UK 2 136517952 136517952 single base substitution G C intron_variant ESAD-UK 2 136519550 136519550 single base substitution T C downstream_gene_variant ESAD-UK 2 136519550 136519550 single base substitution T C intron_variant ESAD-UK 2 136520351 136520351 single base substitution G T downstream_gene_variant ESAD-UK 2 136520351 136520351 single base substitution G T intron_variant ESAD-UK 2 136525111 136525111 single base substitution C T intron_variant ESAD-UK 2 136525111 136525111 single base substitution C T upstream_gene_variant ESAD-UK 2 136527588 136527588 single base substitution G C intron_variant ESAD-UK 2 136527588 136527588 single base substitution G C upstream_gene_variant ESAD-UK 2 136527649 136527649 single base substitution G A intron_variant ESAD-UK 2 136527649 136527649 single base substitution G A upstream_gene_variant ESAD-UK 2 136528266 136528266 single base substitution T C exon_variant ESAD-UK 2 136528266 136528266 single base substitution T C synonymous_variant D261D 783T>C ESAD-UK 2 136528266 136528266 single base substitution T C upstream_gene_variant ESAD-UK 2 136529343 136529343 single base substitution G T intron_variant ESAD-UK 2 136529343 136529343 single base substitution G T upstream_gene_variant ESAD-UK 2 136530206 136530206 single base substitution G A intron_variant ESAD-UK 2 136530896 136530896 single base substitution C G intron_variant ESAD-UK 2 136531312 136531312 single base substitution T G intron_variant ESAD-UK 2 136531575 136531575 single base substitution G C intron_variant ESAD-UK 2 136535105 136535105 single base substitution C T intron_variant ESAD-UK 2 136535453 136535453 insertion of <=200bp - A intron_variant ESAD-UK 2 136535457 136535457 single base substitution A C intron_variant ESAD-UK 2 136539825 136539825 single base substitution C G downstream_gene_variant ESAD-UK 2 136539825 136539825 single base substitution C G intron_variant ESAD-UK 2 136540095 136540095 single base substitution G A downstream_gene_variant ESAD-UK 2 136540095 136540095 single base substitution G A intron_variant ESAD-UK 2 136540155 136540155 single base substitution G A downstream_gene_variant ESAD-UK 2 136540155 136540155 single base substitution G A intron_variant ESAD-UK 2 136540954 136540954 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 136540954 136540954 single base substitution G A downstream_gene_variant ESAD-UK 2 136540954 136540954 single base substitution G A exon_variant ESAD-UK 2 136544436 136544436 single base substitution C G downstream_gene_variant ESAD-UK 2 136545957 136545957 single base substitution C G downstream_gene_variant ESAD-UK 2 136547265 136547265 single base substitution C T downstream_gene_variant ESCA-CN 2 136505825 136505825 single base substitution A G exon_variant ESCA-CN 2 136505825 136505825 single base substitution A G intron_variant ESCA-CN 2 136530108 136530108 single base substitution G A exon_variant ESCA-CN 2 136530108 136530108 single base substitution G A missense_variant R314K 941G>A ESCA-CN 2 136545984 136545984 single base substitution C G downstream_gene_variant ESCA-CN 2 136547323 136547323 single base substitution G A downstream_gene_variant ESCA-CN 2 136547364 136547364 single base substitution C T downstream_gene_variant LAML-KR 2 136511817 136511817 single base substitution A G 3_prime_UTR_variant LAML-KR 2 136511817 136511817 single base substitution A G downstream_gene_variant LAML-KR 2 136511817 136511817 single base substitution A G exon_variant LAML-KR 2 136511817 136511817 single base substitution A G intron_variant LAML-KR 2 136511817 136511817 single base substitution A G synonymous_variant E101E 303A>G LAML-KR 2 136526216 136526216 single base substitution T C intron_variant LAML-KR 2 136526216 136526216 single base substitution T C upstream_gene_variant LAML-KR 2 136535239 136535239 single base substitution A G intron_variant LICA-FR 2 136505345 136505345 single base substitution C G intron_variant LICA-FR 2 136505345 136505345 single base substitution C G upstream_gene_variant LICA-FR 2 136514716 136514716 single base substitution A G downstream_gene_variant LICA-FR 2 136514716 136514716 single base substitution A G intron_variant LICA-FR 2 136538700 136538700 single base substitution G A downstream_gene_variant LICA-FR 2 136538700 136538700 single base substitution G A intron_variant LICA-FR 2 136542811 136542811 single base substitution C T downstream_gene_variant LICA-FR 2 136543517 136543517 single base substitution G T downstream_gene_variant LIHC-US 2 136505940 136505940 single base substitution G T downstream_gene_variant LIHC-US 2 136505940 136505940 single base substitution G T splice_donor_variant LIHC-US 2 136513213 136513213 single base substitution C T 3_prime_UTR_variant LIHC-US 2 136513213 136513213 single base substitution C T downstream_gene_variant LIHC-US 2 136513213 136513213 single base substitution C T exon_variant LIHC-US 2 136513213 136513213 single base substitution C T missense_variant L154F 460C>T LINC-JP 2 136499583 136499583 single base substitution T G splice_donor_variant LINC-JP 2 136499583 136499583 single base substitution T G upstream_gene_variant LINC-JP 2 136501969 136501969 single base substitution T C intron_variant LINC-JP 2 136501969 136501969 single base substitution T C upstream_gene_variant LINC-JP 2 136505917 136505917 single base substitution G T exon_variant LINC-JP 2 136505917 136505917 single base substitution G T missense_variant A55S 163G>T LINC-JP 2 136505917 136505917 single base substitution G T missense_variant A91S 271G>T LINC-JP 2 136505918 136505918 single base substitution C A exon_variant LINC-JP 2 136505918 136505918 single base substitution C A missense_variant A55D 164C>A LINC-JP 2 136505918 136505918 single base substitution C A missense_variant A91D 272C>A LINC-JP 2 136516713 136516713 single base substitution C T downstream_gene_variant LINC-JP 2 136516713 136516713 single base substitution C T intron_variant LINC-JP 2 136519538 136519538 single base substitution A G downstream_gene_variant LINC-JP 2 136519538 136519538 single base substitution A G intron_variant LINC-JP 2 136530683 136530683 insertion of <=200bp - A intron_variant LINC-JP 2 136532389 136532389 single base substitution T G intron_variant LINC-JP 2 136535904 136535904 single base substitution A G intron_variant LINC-JP 2 136536900 136536900 single base substitution A T intron_variant LIRI-JP 2 136494529 136494529 single base substitution C A upstream_gene_variant LIRI-JP 2 136495201 136495201 single base substitution C T upstream_gene_variant LIRI-JP 2 136496171 136496171 single base substitution T C upstream_gene_variant LIRI-JP 2 136496819 136496819 single base substitution G A upstream_gene_variant LIRI-JP 2 136500828 136500828 single base substitution T G intron_variant LIRI-JP 2 136500828 136500828 single base substitution T G upstream_gene_variant LIRI-JP 2 136502739 136502739 single base substitution T C intron_variant LIRI-JP 2 136502739 136502739 single base substitution T C upstream_gene_variant LIRI-JP 2 136502753 136502753 single base substitution A G intron_variant LIRI-JP 2 136502753 136502753 single base substitution A G upstream_gene_variant LIRI-JP 2 136503605 136503605 single base substitution G A intron_variant LIRI-JP 2 136503605 136503605 single base substitution G A upstream_gene_variant LIRI-JP 2 136508044 136508044 single base substitution C G downstream_gene_variant LIRI-JP 2 136508044 136508044 single base substitution C G intron_variant LIRI-JP 2 136508044 136508044 single base substitution C G upstream_gene_variant LIRI-JP 2 136509763 136509763 single base substitution G A downstream_gene_variant LIRI-JP 2 136509763 136509763 single base substitution G A intron_variant LIRI-JP 2 136509763 136509763 single base substitution G A upstream_gene_variant LIRI-JP 2 136510420 136510420 single base substitution A T downstream_gene_variant LIRI-JP 2 136510420 136510420 single base substitution A T intron_variant LIRI-JP 2 136510420 136510420 single base substitution A T upstream_gene_variant LIRI-JP 2 136511534 136511534 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 136511534 136511534 single base substitution A G intron_variant LIRI-JP 2 136511534 136511534 single base substitution A G upstream_gene_variant LIRI-JP 2 136512105 136512105 single base substitution C T downstream_gene_variant LIRI-JP 2 136512105 136512105 single base substitution C T intron_variant LIRI-JP 2 136516590 136516590 single base substitution A G downstream_gene_variant LIRI-JP 2 136516590 136516590 single base substitution A G intron_variant LIRI-JP 2 136519275 136519275 single base substitution A T intron_variant LIRI-JP 2 136519635 136519635 single base substitution A G downstream_gene_variant LIRI-JP 2 136519635 136519635 single base substitution A G intron_variant LIRI-JP 2 136520422 136520422 single base substitution C T downstream_gene_variant LIRI-JP 2 136520422 136520422 single base substitution C T intron_variant LIRI-JP 2 136521764 136521764 single base substitution C G downstream_gene_variant LIRI-JP 2 136521764 136521764 single base substitution C G intron_variant LIRI-JP 2 136521825 136521825 single base substitution T G downstream_gene_variant LIRI-JP 2 136521825 136521825 single base substitution T G intron_variant LIRI-JP 2 136522106 136522106 single base substitution C G downstream_gene_variant LIRI-JP 2 136522106 136522106 single base substitution C G intron_variant LIRI-JP 2 136522727 136522727 single base substitution A C downstream_gene_variant LIRI-JP 2 136522727 136522727 single base substitution A C intron_variant LIRI-JP 2 136522745 136522745 single base substitution A C downstream_gene_variant LIRI-JP 2 136522745 136522745 single base substitution A C intron_variant LIRI-JP 2 136526789 136526789 single base substitution C G intron_variant LIRI-JP 2 136526789 136526789 single base substitution C G upstream_gene_variant LIRI-JP 2 136530032 136530032 single base substitution G A exon_variant LIRI-JP 2 136530032 136530032 single base substitution G A missense_variant E289K 865G>A LIRI-JP 2 136531189 136531189 single base substitution A C intron_variant LIRI-JP 2 136533582 136533582 single base substitution G C intron_variant LIRI-JP 2 136533935 136533935 single base substitution T G intron_variant LIRI-JP 2 136534742 136534742 single base substitution A G intron_variant LIRI-JP 2 136536477 136536477 deletion of <=200bp T - intron_variant LIRI-JP 2 136536658 136536658 single base substitution A G intron_variant LIRI-JP 2 136537327 136537327 single base substitution A G intron_variant LIRI-JP 2 136539333 136539333 single base substitution G A downstream_gene_variant LIRI-JP 2 136539333 136539333 single base substitution G A intron_variant LIRI-JP 2 136540191 136540191 single base substitution T G downstream_gene_variant LIRI-JP 2 136540191 136540191 single base substitution T G intron_variant LIRI-JP 2 136540356 136540356 single base substitution G A downstream_gene_variant LIRI-JP 2 136540356 136540356 single base substitution G A exon_variant LIRI-JP 2 136540356 136540356 single base substitution G A missense_variant D476N 1426G>A LIRI-JP 2 136540462 136540462 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 136540462 136540462 single base substitution A G downstream_gene_variant LIRI-JP 2 136540462 136540462 single base substitution A G exon_variant LIRI-JP 2 136540725 136540725 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 136540725 136540725 single base substitution T C downstream_gene_variant LIRI-JP 2 136540725 136540725 single base substitution T C exon_variant LIRI-JP 2 136542729 136542729 single base substitution A G downstream_gene_variant LIRI-JP 2 136543447 136543447 single base substitution A G downstream_gene_variant LIRI-JP 2 136543957 136543957 single base substitution A G downstream_gene_variant LIRI-JP 2 136544685 136544685 single base substitution T C downstream_gene_variant LIRI-JP 2 136546855 136546855 single base substitution A T downstream_gene_variant LUSC-KR 2 136494428 136494428 single base substitution G A upstream_gene_variant LUSC-KR 2 136495499 136495499 single base substitution T G upstream_gene_variant LUSC-KR 2 136499458 136499458 single base substitution G A 5_prime_UTR_variant LUSC-KR 2 136499458 136499458 single base substitution G A upstream_gene_variant LUSC-KR 2 136508609 136508609 single base substitution G T downstream_gene_variant LUSC-KR 2 136508609 136508609 single base substitution G T intron_variant LUSC-KR 2 136508609 136508609 single base substitution G T upstream_gene_variant LUSC-KR 2 136509912 136509912 single base substitution A T downstream_gene_variant LUSC-KR 2 136509912 136509912 single base substitution A T intron_variant LUSC-KR 2 136509912 136509912 single base substitution A T upstream_gene_variant LUSC-KR 2 136512082 136512082 single base substitution A T downstream_gene_variant LUSC-KR 2 136512082 136512082 single base substitution A T intron_variant LUSC-KR 2 136515662 136515662 single base substitution G T downstream_gene_variant LUSC-KR 2 136515662 136515662 single base substitution G T intron_variant LUSC-KR 2 136516458 136516458 single base substitution A T downstream_gene_variant LUSC-KR 2 136516458 136516458 single base substitution A T intron_variant LUSC-KR 2 136517287 136517287 single base substitution G C downstream_gene_variant LUSC-KR 2 136517287 136517287 single base substitution G C intron_variant LUSC-KR 2 136519250 136519250 single base substitution C T intron_variant LUSC-KR 2 136523551 136523551 single base substitution T C downstream_gene_variant LUSC-KR 2 136523551 136523551 single base substitution T C intron_variant LUSC-KR 2 136529393 136529393 single base substitution A G intron_variant LUSC-KR 2 136529393 136529393 single base substitution A G upstream_gene_variant LUSC-KR 2 136532789 136532789 single base substitution C T intron_variant LUSC-KR 2 136542140 136542140 single base substitution T C 3_prime_UTR_variant LUSC-KR 2 136542140 136542140 single base substitution T C downstream_gene_variant LUSC-KR 2 136542140 136542140 single base substitution T C exon_variant LUSC-KR 2 136544412 136544412 single base substitution G C downstream_gene_variant LUSC-KR 2 136545299 136545299 single base substitution A G downstream_gene_variant LUSC-KR 2 136545558 136545558 single base substitution C A downstream_gene_variant LUSC-KR 2 136545821 136545821 single base substitution T C downstream_gene_variant LUSC-KR 2 136545831 136545831 single base substitution G T downstream_gene_variant LUSC-KR 2 136545955 136545955 single base substitution C T downstream_gene_variant LUSC-KR 2 136546110 136546110 single base substitution A G downstream_gene_variant LUSC-US 2 136519470 136519470 single base substitution C T 3_prime_UTR_variant LUSC-US 2 136519470 136519470 single base substitution C T downstream_gene_variant LUSC-US 2 136519470 136519470 single base substitution C T intron_variant LUSC-US 2 136519470 136519470 single base substitution C T synonymous_variant I197I 591C>T LUSC-US 2 136528164 136528164 single base substitution G C exon_variant LUSC-US 2 136528164 136528164 single base substitution G C missense_variant E227D 681G>C LUSC-US 2 136528164 136528164 single base substitution G C upstream_gene_variant LUSC-US 2 136530083 136530083 single base substitution G C exon_variant LUSC-US 2 136530083 136530083 single base substitution G C missense_variant E306Q 916G>C LUSC-US 2 136537796 136537796 single base substitution A C downstream_gene_variant LUSC-US 2 136537796 136537796 single base substitution A C exon_variant LUSC-US 2 136537796 136537796 single base substitution A C missense_variant D410A 1229A>C LUSC-US 2 136537802 136537802 single base substitution G T downstream_gene_variant LUSC-US 2 136537802 136537802 single base substitution G T exon_variant LUSC-US 2 136537802 136537802 single base substitution G T missense_variant W412L 1235G>T LUSC-US 2 136547235 136547235 single base substitution G T downstream_gene_variant MALY-DE 2 136496388 136496388 single base substitution C A upstream_gene_variant MALY-DE 2 136497401 136497401 single base substitution G A upstream_gene_variant MALY-DE 2 136498635 136498635 single base substitution A G upstream_gene_variant MALY-DE 2 136498960 136498960 single base substitution C T upstream_gene_variant MALY-DE 2 136499046 136499046 single base substitution C T upstream_gene_variant MALY-DE 2 136502819 136502819 single base substitution A G intron_variant MALY-DE 2 136502819 136502819 single base substitution A G upstream_gene_variant MALY-DE 2 136503933 136503933 insertion of <=200bp - AAATA intron_variant MALY-DE 2 136503933 136503933 insertion of <=200bp - AAATA upstream_gene_variant MALY-DE 2 136505699 136505699 single base substitution G A exon_variant MALY-DE 2 136505699 136505699 single base substitution G A intron_variant MALY-DE 2 136507735 136507735 single base substitution G A downstream_gene_variant MALY-DE 2 136507735 136507735 single base substitution G A intron_variant MALY-DE 2 136507735 136507735 single base substitution G A upstream_gene_variant MALY-DE 2 136508103 136508103 single base substitution A C downstream_gene_variant MALY-DE 2 136508103 136508103 single base substitution A C intron_variant MALY-DE 2 136508103 136508103 single base substitution A C upstream_gene_variant MALY-DE 2 136517373 136517373 single base substitution C G downstream_gene_variant MALY-DE 2 136517373 136517373 single base substitution C G intron_variant MALY-DE 2 136526297 136526297 single base substitution A T intron_variant MALY-DE 2 136526297 136526297 single base substitution A T upstream_gene_variant MALY-DE 2 136528127 136528130 deletion of <=200bp TTTC - intron_variant MALY-DE 2 136528127 136528130 deletion of <=200bp TTTC - upstream_gene_variant MALY-DE 2 136536457 136536457 single base substitution T G intron_variant MALY-DE 2 136547198 136547198 single base substitution G A downstream_gene_variant MELA-AU 2 136494249 136494249 single base substitution G A upstream_gene_variant MELA-AU 2 136494288 136494288 single base substitution G A upstream_gene_variant MELA-AU 2 136494455 136494455 single base substitution C T upstream_gene_variant MELA-AU 2 136494499 136494499 single base substitution G A upstream_gene_variant MELA-AU 2 136494724 136494725 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 136495132 136495132 single base substitution G A upstream_gene_variant MELA-AU 2 136495154 136495154 single base substitution C T upstream_gene_variant MELA-AU 2 136495269 136495269 single base substitution C T upstream_gene_variant MELA-AU 2 136495520 136495520 single base substitution C T upstream_gene_variant MELA-AU 2 136495568 136495568 single base substitution T G upstream_gene_variant MELA-AU 2 136495686 136495686 single base substitution C T upstream_gene_variant MELA-AU 2 136495689 136495689 single base substitution G A upstream_gene_variant MELA-AU 2 136495950 136495950 single base substitution G A upstream_gene_variant MELA-AU 2 136496018 136496018 single base substitution C T upstream_gene_variant MELA-AU 2 136496415 136496416 multiple base substitution (>=2bp and <=200bp) CT TA upstream_gene_variant MELA-AU 2 136496603 136496603 single base substitution T A upstream_gene_variant MELA-AU 2 136496735 136496735 single base substitution C T upstream_gene_variant MELA-AU 2 136497024 136497024 single base substitution C T upstream_gene_variant MELA-AU 2 136497224 136497224 single base substitution G A upstream_gene_variant MELA-AU 2 136497241 136497241 single base substitution C T upstream_gene_variant MELA-AU 2 136497379 136497379 single base substitution G A upstream_gene_variant MELA-AU 2 136497493 136497493 single base substitution C T upstream_gene_variant MELA-AU 2 136497572 136497572 single base substitution C T upstream_gene_variant MELA-AU 2 136498324 136498324 single base substitution G A upstream_gene_variant MELA-AU 2 136498494 136498494 single base substitution C T upstream_gene_variant MELA-AU 2 136498745 136498745 single base substitution C T upstream_gene_variant MELA-AU 2 136498844 136498844 single base substitution C T upstream_gene_variant MELA-AU 2 136499145 136499145 single base substitution G A upstream_gene_variant MELA-AU 2 136499401 136499401 single base substitution G A 5_prime_UTR_variant MELA-AU 2 136499401 136499401 single base substitution G A upstream_gene_variant MELA-AU 2 136499992 136499992 single base substitution C T intron_variant MELA-AU 2 136499992 136499992 single base substitution C T upstream_gene_variant MELA-AU 2 136500138 136500138 single base substitution C G exon_variant MELA-AU 2 136500138 136500138 single base substitution C G intron_variant MELA-AU 2 136501829 136501829 single base substitution C T intron_variant MELA-AU 2 136501829 136501829 single base substitution C T upstream_gene_variant MELA-AU 2 136502025 136502025 single base substitution C T intron_variant MELA-AU 2 136502025 136502025 single base substitution C T upstream_gene_variant MELA-AU 2 136502255 136502255 single base substitution C T intron_variant MELA-AU 2 136502255 136502255 single base substitution C T upstream_gene_variant MELA-AU 2 136503764 136503764 single base substitution C T intron_variant MELA-AU 2 136503764 136503764 single base substitution C T upstream_gene_variant MELA-AU 2 136504810 136504810 single base substitution C T intron_variant MELA-AU 2 136504810 136504810 single base substitution C T upstream_gene_variant MELA-AU 2 136504841 136504841 single base substitution C T intron_variant MELA-AU 2 136504841 136504841 single base substitution C T upstream_gene_variant MELA-AU 2 136505770 136505770 single base substitution C T exon_variant MELA-AU 2 136505770 136505770 single base substitution C T intron_variant MELA-AU 2 136506125 136506125 single base substitution C T downstream_gene_variant MELA-AU 2 136506125 136506125 single base substitution C T intron_variant MELA-AU 2 136506181 136506181 single base substitution C T downstream_gene_variant MELA-AU 2 136506181 136506181 single base substitution C T intron_variant MELA-AU 2 136507536 136507536 single base substitution T C downstream_gene_variant MELA-AU 2 136507536 136507536 single base substitution T C intron_variant MELA-AU 2 136507536 136507536 single base substitution T C upstream_gene_variant MELA-AU 2 136507599 136507599 single base substitution C T downstream_gene_variant MELA-AU 2 136507599 136507599 single base substitution C T intron_variant MELA-AU 2 136507599 136507599 single base substitution C T upstream_gene_variant MELA-AU 2 136507867 136507867 single base substitution C T downstream_gene_variant MELA-AU 2 136507867 136507867 single base substitution C T intron_variant MELA-AU 2 136507867 136507867 single base substitution C T upstream_gene_variant MELA-AU 2 136508866 136508866 single base substitution C T downstream_gene_variant MELA-AU 2 136508866 136508866 single base substitution C T intron_variant MELA-AU 2 136508866 136508866 single base substitution C T upstream_gene_variant MELA-AU 2 136509852 136509852 single base substitution C T downstream_gene_variant MELA-AU 2 136509852 136509852 single base substitution C T intron_variant MELA-AU 2 136509852 136509852 single base substitution C T upstream_gene_variant MELA-AU 2 136510622 136510622 single base substitution T C downstream_gene_variant MELA-AU 2 136510622 136510622 single base substitution T C intron_variant MELA-AU 2 136510622 136510622 single base substitution T C upstream_gene_variant MELA-AU 2 136511780 136511780 single base substitution C T 3_prime_UTR_variant MELA-AU 2 136511780 136511780 single base substitution C T downstream_gene_variant MELA-AU 2 136511780 136511780 single base substitution C T exon_variant MELA-AU 2 136511780 136511780 single base substitution C T intron_variant MELA-AU 2 136511780 136511780 single base substitution C T missense_variant P89L 266C>T MELA-AU 2 136511984 136511984 single base substitution C T downstream_gene_variant MELA-AU 2 136511984 136511984 single base substitution C T intron_variant MELA-AU 2 136512144 136512144 single base substitution C T downstream_gene_variant MELA-AU 2 136512144 136512144 single base substitution C T intron_variant MELA-AU 2 136514180 136514180 single base substitution G A downstream_gene_variant MELA-AU 2 136514180 136514180 single base substitution G A intron_variant MELA-AU 2 136514254 136514254 single base substitution C T downstream_gene_variant MELA-AU 2 136514254 136514254 single base substitution C T intron_variant MELA-AU 2 136514550 136514550 single base substitution A G downstream_gene_variant MELA-AU 2 136514550 136514550 single base substitution A G intron_variant MELA-AU 2 136514777 136514777 single base substitution C T downstream_gene_variant MELA-AU 2 136514777 136514777 single base substitution C T intron_variant MELA-AU 2 136515734 136515734 single base substitution T G downstream_gene_variant MELA-AU 2 136515734 136515734 single base substitution T G intron_variant MELA-AU 2 136515797 136515798 multiple base substitution (>=2bp and <=200bp) AC CT downstream_gene_variant MELA-AU 2 136515797 136515798 multiple base substitution (>=2bp and <=200bp) AC CT intron_variant MELA-AU 2 136516400 136516400 single base substitution C T downstream_gene_variant MELA-AU 2 136516400 136516400 single base substitution C T intron_variant MELA-AU 2 136516774 136516774 single base substitution C T downstream_gene_variant MELA-AU 2 136516774 136516774 single base substitution C T intron_variant MELA-AU 2 136517810 136517810 single base substitution C T downstream_gene_variant MELA-AU 2 136517810 136517810 single base substitution C T intron_variant MELA-AU 2 136519899 136519899 single base substitution C T downstream_gene_variant MELA-AU 2 136519899 136519899 single base substitution C T intron_variant MELA-AU 2 136520113 136520113 single base substitution C T downstream_gene_variant MELA-AU 2 136520113 136520113 single base substitution C T intron_variant MELA-AU 2 136520189 136520189 single base substitution C T downstream_gene_variant MELA-AU 2 136520189 136520189 single base substitution C T intron_variant MELA-AU 2 136520766 136520766 single base substitution C T downstream_gene_variant MELA-AU 2 136520766 136520766 single base substitution C T intron_variant MELA-AU 2 136522196 136522196 single base substitution C T downstream_gene_variant MELA-AU 2 136522196 136522196 single base substitution C T intron_variant MELA-AU 2 136522822 136522822 single base substitution C T downstream_gene_variant MELA-AU 2 136522822 136522822 single base substitution C T intron_variant MELA-AU 2 136522928 136522928 single base substitution C T downstream_gene_variant MELA-AU 2 136522928 136522928 single base substitution C T intron_variant MELA-AU 2 136523422 136523423 multiple base substitution (>=2bp and <=200bp) CC TG downstream_gene_variant MELA-AU 2 136523422 136523423 multiple base substitution (>=2bp and <=200bp) CC TG intron_variant MELA-AU 2 136524678 136524679 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 136525434 136525434 single base substitution G A intron_variant MELA-AU 2 136525434 136525434 single base substitution G A upstream_gene_variant MELA-AU 2 136525810 136525810 single base substitution C T intron_variant MELA-AU 2 136525810 136525810 single base substitution C T upstream_gene_variant MELA-AU 2 136526037 136526037 single base substitution G A intron_variant MELA-AU 2 136526037 136526037 single base substitution G A upstream_gene_variant MELA-AU 2 136526983 136526983 single base substitution C T intron_variant MELA-AU 2 136526983 136526983 single base substitution C T upstream_gene_variant MELA-AU 2 136527238 136527238 single base substitution C T intron_variant MELA-AU 2 136527238 136527238 single base substitution C T upstream_gene_variant MELA-AU 2 136527611 136527611 single base substitution C T intron_variant MELA-AU 2 136527611 136527611 single base substitution C T upstream_gene_variant MELA-AU 2 136527963 136527978 deletion of <=200bp ATTGGCAATGATTTAT - intron_variant MELA-AU 2 136527963 136527978 deletion of <=200bp ATTGGCAATGATTTAT - upstream_gene_variant MELA-AU 2 136529217 136529217 single base substitution C T intron_variant MELA-AU 2 136529217 136529217 single base substitution C T upstream_gene_variant MELA-AU 2 136529912 136529912 single base substitution C T intron_variant MELA-AU 2 136529912 136529912 single base substitution C T upstream_gene_variant MELA-AU 2 136530490 136530490 single base substitution C T intron_variant MELA-AU 2 136532097 136532097 single base substitution C T intron_variant MELA-AU 2 136532242 136532242 single base substitution C T intron_variant MELA-AU 2 136532985 136532985 single base substitution T C intron_variant MELA-AU 2 136533087 136533087 single base substitution C T intron_variant MELA-AU 2 136533160 136533160 single base substitution C T intron_variant MELA-AU 2 136533427 136533428 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 2 136533446 136533446 single base substitution C T intron_variant MELA-AU 2 136533559 136533559 single base substitution G A intron_variant MELA-AU 2 136533561 136533561 single base substitution A C intron_variant MELA-AU 2 136534783 136534783 single base substitution C T intron_variant MELA-AU 2 136535629 136535630 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 136535829 136535829 single base substitution A C intron_variant MELA-AU 2 136536434 136536434 single base substitution T G intron_variant MELA-AU 2 136536681 136536681 single base substitution C T intron_variant MELA-AU 2 136537682 136537682 single base substitution C T intron_variant MELA-AU 2 136538085 136538085 single base substitution C T downstream_gene_variant MELA-AU 2 136538085 136538085 single base substitution C T intron_variant MELA-AU 2 136538132 136538132 single base substitution A T downstream_gene_variant MELA-AU 2 136538132 136538132 single base substitution A T intron_variant MELA-AU 2 136538190 136538190 single base substitution T C downstream_gene_variant MELA-AU 2 136538190 136538190 single base substitution T C intron_variant MELA-AU 2 136538450 136538450 single base substitution T G downstream_gene_variant MELA-AU 2 136538450 136538450 single base substitution T G intron_variant MELA-AU 2 136538495 136538495 single base substitution C T downstream_gene_variant MELA-AU 2 136538495 136538495 single base substitution C T intron_variant MELA-AU 2 136538592 136538592 single base substitution C T downstream_gene_variant MELA-AU 2 136538592 136538592 single base substitution C T intron_variant MELA-AU 2 136538874 136538874 single base substitution C T downstream_gene_variant MELA-AU 2 136538874 136538874 single base substitution C T intron_variant MELA-AU 2 136539217 136539217 single base substitution A T downstream_gene_variant MELA-AU 2 136539217 136539217 single base substitution A T intron_variant MELA-AU 2 136539357 136539357 single base substitution T A downstream_gene_variant MELA-AU 2 136539357 136539357 single base substitution T A intron_variant MELA-AU 2 136539528 136539528 single base substitution C T downstream_gene_variant MELA-AU 2 136539528 136539528 single base substitution C T intron_variant MELA-AU 2 136539599 136539599 single base substitution C T downstream_gene_variant MELA-AU 2 136539599 136539599 single base substitution C T intron_variant MELA-AU 2 136540710 136540710 single base substitution C T 3_prime_UTR_variant MELA-AU 2 136540710 136540710 single base substitution C T downstream_gene_variant MELA-AU 2 136540710 136540710 single base substitution C T exon_variant MELA-AU 2 136540755 136540755 single base substitution C T 3_prime_UTR_variant MELA-AU 2 136540755 136540755 single base substitution C T downstream_gene_variant MELA-AU 2 136540755 136540755 single base substitution C T exon_variant MELA-AU 2 136540812 136540812 single base substitution C T 3_prime_UTR_variant MELA-AU 2 136540812 136540812 single base substitution C T downstream_gene_variant MELA-AU 2 136540812 136540812 single base substitution C T exon_variant MELA-AU 2 136541646 136541646 single base substitution G A 3_prime_UTR_variant MELA-AU 2 136541646 136541646 single base substitution G A downstream_gene_variant MELA-AU 2 136541646 136541646 single base substitution G A exon_variant MELA-AU 2 136542056 136542056 single base substitution C T 3_prime_UTR_variant MELA-AU 2 136542056 136542056 single base substitution C T downstream_gene_variant MELA-AU 2 136542056 136542056 single base substitution C T exon_variant MELA-AU 2 136542677 136542677 single base substitution C T downstream_gene_variant MELA-AU 2 136543184 136543184 single base substitution C T downstream_gene_variant MELA-AU 2 136543582 136543582 single base substitution C T downstream_gene_variant MELA-AU 2 136543809 136543809 single base substitution C T downstream_gene_variant MELA-AU 2 136544464 136544464 single base substitution C T downstream_gene_variant MELA-AU 2 136544836 136544836 single base substitution C T downstream_gene_variant MELA-AU 2 136545320 136545320 single base substitution G A downstream_gene_variant MELA-AU 2 136545942 136545942 single base substitution C T downstream_gene_variant MELA-AU 2 136545943 136545943 single base substitution C T downstream_gene_variant MELA-AU 2 136546312 136546312 single base substitution C T downstream_gene_variant MELA-AU 2 136546830 136546830 single base substitution C T downstream_gene_variant MELA-AU 2 136546996 136546996 single base substitution C T downstream_gene_variant MELA-AU 2 136547120 136547120 single base substitution C T downstream_gene_variant MELA-AU 2 136547286 136547286 single base substitution C T downstream_gene_variant MELA-AU 2 136547413 136547413 single base substitution G A downstream_gene_variant MELA-AU 2 136547431 136547431 single base substitution C T downstream_gene_variant ORCA-IN 2 136502570 136502570 single base substitution G T intron_variant ORCA-IN 2 136502570 136502570 single base substitution G T upstream_gene_variant ORCA-IN 2 136533917 136533917 single base substitution C A exon_variant ORCA-IN 2 136533917 136533917 single base substitution C A missense_variant A350E 1049C>A ORCA-IN 2 136537633 136537633 single base substitution C G intron_variant ORCA-IN 2 136546111 136546111 single base substitution G T downstream_gene_variant OV-AU 2 136500416 136500416 single base substitution G A intron_variant OV-AU 2 136514696 136514696 single base substitution A G downstream_gene_variant OV-AU 2 136514696 136514696 single base substitution A G intron_variant OV-AU 2 136514837 136514837 single base substitution G C downstream_gene_variant OV-AU 2 136514837 136514837 single base substitution G C intron_variant OV-AU 2 136518754 136518754 single base substitution G C intron_variant OV-AU 2 136521095 136521095 single base substitution G A downstream_gene_variant OV-AU 2 136521095 136521095 single base substitution G A intron_variant OV-AU 2 136535359 136535359 single base substitution A G intron_variant OV-AU 2 136536718 136536718 single base substitution T C intron_variant OV-AU 2 136538324 136538324 single base substitution C T downstream_gene_variant OV-AU 2 136538324 136538324 single base substitution C T intron_variant OV-AU 2 136541223 136541223 single base substitution T G 3_prime_UTR_variant OV-AU 2 136541223 136541223 single base substitution T G downstream_gene_variant OV-AU 2 136541223 136541223 single base substitution T G exon_variant OV-AU 2 136542381 136542381 single base substitution C G 3_prime_UTR_variant OV-AU 2 136542381 136542381 single base substitution C G downstream_gene_variant OV-AU 2 136542381 136542381 single base substitution C G exon_variant OV-AU 2 136544613 136544613 single base substitution T C downstream_gene_variant PACA-AU 2 136496652 136496652 single base substitution G T upstream_gene_variant PACA-AU 2 136496843 136496843 single base substitution C T upstream_gene_variant PACA-AU 2 136499103 136499103 single base substitution T A upstream_gene_variant PACA-AU 2 136504375 136504375 single base substitution G T intron_variant PACA-AU 2 136504375 136504375 single base substitution G T upstream_gene_variant PACA-AU 2 136510585 136510585 single base substitution G A downstream_gene_variant PACA-AU 2 136510585 136510585 single base substitution G A intron_variant PACA-AU 2 136510585 136510585 single base substitution G A upstream_gene_variant PACA-AU 2 136511674 136511674 single base substitution C T 3_prime_UTR_variant PACA-AU 2 136511674 136511674 single base substitution C T intron_variant PACA-AU 2 136511674 136511674 single base substitution C T upstream_gene_variant PACA-AU 2 136521473 136521473 single base substitution T A downstream_gene_variant PACA-AU 2 136521473 136521473 single base substitution T A intron_variant PACA-AU 2 136524413 136524413 single base substitution C A downstream_gene_variant PACA-AU 2 136524413 136524413 single base substitution C A intron_variant PACA-AU 2 136528306 136528306 single base substitution G A splice_donor_variant PACA-AU 2 136528306 136528306 single base substitution G A upstream_gene_variant PACA-AU 2 136530240 136530240 single base substitution A G intron_variant PACA-AU 2 136532937 136532937 single base substitution A T intron_variant PACA-AU 2 136533883 136533883 single base substitution G T exon_variant PACA-AU 2 136533883 136533883 single base substitution G T missense_variant D339Y 1015G>T PACA-AU 2 136537968 136537968 single base substitution G T downstream_gene_variant PACA-AU 2 136537968 136537968 single base substitution G T intron_variant PACA-AU 2 136539734 136539734 single base substitution G A downstream_gene_variant PACA-AU 2 136539734 136539734 single base substitution G A intron_variant PACA-AU 2 136541922 136541922 single base substitution A T 3_prime_UTR_variant PACA-AU 2 136541922 136541922 single base substitution A T downstream_gene_variant PACA-AU 2 136541922 136541922 single base substitution A T exon_variant PACA-AU 2 136541924 136541924 single base substitution C A 3_prime_UTR_variant PACA-AU 2 136541924 136541924 single base substitution C A downstream_gene_variant PACA-AU 2 136541924 136541924 single base substitution C A exon_variant PACA-AU 2 136546865 136546865 single base substitution G A downstream_gene_variant PACA-CA 2 136495645 136495645 single base substitution G A upstream_gene_variant PACA-CA 2 136496843 136496843 single base substitution C T upstream_gene_variant PACA-CA 2 136498564 136498564 single base substitution G A upstream_gene_variant PACA-CA 2 136499046 136499046 deletion of <=200bp C - upstream_gene_variant PACA-CA 2 136500547 136500547 single base substitution G T intron_variant PACA-CA 2 136503679 136503679 single base substitution C T intron_variant PACA-CA 2 136503679 136503679 single base substitution C T upstream_gene_variant PACA-CA 2 136505352 136505352 single base substitution G T intron_variant PACA-CA 2 136505352 136505352 single base substitution G T upstream_gene_variant PACA-CA 2 136506273 136506273 single base substitution T A downstream_gene_variant PACA-CA 2 136506273 136506273 single base substitution T A intron_variant PACA-CA 2 136506990 136506990 single base substitution T A downstream_gene_variant PACA-CA 2 136506990 136506990 single base substitution T A intron_variant PACA-CA 2 136506990 136506990 single base substitution T A upstream_gene_variant PACA-CA 2 136509330 136509330 deletion of <=200bp T - downstream_gene_variant PACA-CA 2 136509330 136509330 deletion of <=200bp T - intron_variant PACA-CA 2 136509330 136509330 deletion of <=200bp T - upstream_gene_variant PACA-CA 2 136509958 136509958 single base substitution G A downstream_gene_variant PACA-CA 2 136509958 136509958 single base substitution G A intron_variant PACA-CA 2 136509958 136509958 single base substitution G A upstream_gene_variant PACA-CA 2 136513387 136513388 deletion of <=200bp AG - downstream_gene_variant PACA-CA 2 136513387 136513388 deletion of <=200bp AG - intron_variant PACA-CA 2 136514474 136514474 single base substitution C T downstream_gene_variant PACA-CA 2 136514474 136514474 single base substitution C T intron_variant PACA-CA 2 136514747 136514747 single base substitution A G downstream_gene_variant PACA-CA 2 136514747 136514747 single base substitution A G intron_variant PACA-CA 2 136515769 136515769 single base substitution T C downstream_gene_variant PACA-CA 2 136515769 136515769 single base substitution T C intron_variant PACA-CA 2 136516081 136516081 single base substitution G T downstream_gene_variant PACA-CA 2 136516081 136516081 single base substitution G T intron_variant PACA-CA 2 136519288 136519288 single base substitution G C intron_variant PACA-CA 2 136520107 136520107 single base substitution A G downstream_gene_variant PACA-CA 2 136520107 136520107 single base substitution A G intron_variant PACA-CA 2 136524495 136524495 deletion of <=200bp T - intron_variant PACA-CA 2 136526427 136526427 single base substitution G A intron_variant PACA-CA 2 136526427 136526427 single base substitution G A upstream_gene_variant PACA-CA 2 136531667 136531667 single base substitution C G intron_variant PACA-CA 2 136533695 136533695 single base substitution G C intron_variant PACA-CA 2 136534421 136534421 single base substitution C T intron_variant PACA-CA 2 136534634 136534634 single base substitution A G intron_variant PACA-CA 2 136536991 136536991 insertion of <=200bp - A intron_variant PACA-CA 2 136537856 136537856 single base substitution G C downstream_gene_variant PACA-CA 2 136537856 136537856 single base substitution G C exon_variant PACA-CA 2 136537856 136537856 single base substitution G C missense_variant S430T 1289G>C PACA-CA 2 136540240 136540240 single base substitution A T downstream_gene_variant PACA-CA 2 136540240 136540240 single base substitution A T intron_variant PACA-CA 2 136540359 136540359 single base substitution G A downstream_gene_variant PACA-CA 2 136540359 136540359 single base substitution G A exon_variant PACA-CA 2 136540359 136540359 single base substitution G A missense_variant D477N 1429G>A PAEN-AU 2 136509804 136509804 single base substitution A G downstream_gene_variant PAEN-AU 2 136509804 136509804 single base substitution A G intron_variant PAEN-AU 2 136509804 136509804 single base substitution A G upstream_gene_variant PAEN-AU 2 136529247 136529247 single base substitution C G intron_variant PAEN-AU 2 136529247 136529247 single base substitution C G upstream_gene_variant PAEN-AU 2 136540295 136540295 single base substitution C T downstream_gene_variant PAEN-AU 2 136540295 136540295 single base substitution C T intron_variant PAEN-AU 2 136540616 136540616 single base substitution A G 3_prime_UTR_variant PAEN-AU 2 136540616 136540616 single base substitution A G downstream_gene_variant PAEN-AU 2 136540616 136540616 single base substitution A G exon_variant PBCA-DE 2 136494249 136494249 single base substitution G A upstream_gene_variant PBCA-DE 2 136518732 136518732 single base substitution C T intron_variant PRAD-CA 2 136533298 136533298 single base substitution A C intron_variant PRAD-CA 2 136535759 136535759 single base substitution C A intron_variant PRAD-UK 2 136497992 136497992 single base substitution C T upstream_gene_variant PRAD-UK 2 136500383 136500383 single base substitution A T intron_variant PRAD-UK 2 136501054 136501054 single base substitution T C intron_variant PRAD-UK 2 136501054 136501054 single base substitution T C upstream_gene_variant PRAD-UK 2 136510904 136510904 single base substitution C T downstream_gene_variant PRAD-UK 2 136510904 136510904 single base substitution C T intron_variant PRAD-UK 2 136510904 136510904 single base substitution C T upstream_gene_variant PRAD-UK 2 136511616 136511646 multiple base substitution (>=2bp and <=200bp) AGATTATATTGTGAAAATCACAAAGATCATT ATAATC 3_prime_UTR_variant PRAD-UK 2 136511616 136511646 multiple base substitution (>=2bp and <=200bp) AGATTATATTGTGAAAATCACAAAGATCATT ATAATC intron_variant PRAD-UK 2 136511616 136511646 multiple base substitution (>=2bp and <=200bp) AGATTATATTGTGAAAATCACAAAGATCATT ATAATC upstream_gene_variant PRAD-UK 2 136513320 136513320 single base substitution T G downstream_gene_variant PRAD-UK 2 136513320 136513320 single base substitution T G intron_variant PRAD-UK 2 136521402 136521402 single base substitution T A downstream_gene_variant PRAD-UK 2 136521402 136521402 single base substitution T A intron_variant PRAD-UK 2 136525175 136525175 single base substitution A C intron_variant PRAD-UK 2 136525175 136525175 single base substitution A C upstream_gene_variant PRAD-UK 2 136540801 136540801 single base substitution G A 3_prime_UTR_variant PRAD-UK 2 136540801 136540801 single base substitution G A downstream_gene_variant PRAD-UK 2 136540801 136540801 single base substitution G A exon_variant PRAD-UK 2 136544996 136544996 single base substitution G T downstream_gene_variant PRAD-US 2 136536538 136536540 deletion of <=200bp TAA - exon_variant PRAD-US 2 136536538 136536540 deletion of <=200bp TAA - inframe_deletion GN358G RECA-EU 2 136502218 136502218 single base substitution G C intron_variant RECA-EU 2 136502218 136502218 single base substitution G C upstream_gene_variant RECA-EU 2 136502219 136502219 single base substitution G A intron_variant RECA-EU 2 136502219 136502219 single base substitution G A upstream_gene_variant RECA-EU 2 136506230 136506230 single base substitution G A downstream_gene_variant RECA-EU 2 136506230 136506230 single base substitution G A intron_variant RECA-EU 2 136521449 136521449 single base substitution C A downstream_gene_variant RECA-EU 2 136521449 136521449 single base substitution C A intron_variant RECA-EU 2 136530303 136530303 single base substitution A T intron_variant RECA-EU 2 136538554 136538554 single base substitution G A downstream_gene_variant RECA-EU 2 136538554 136538554 single base substitution G A intron_variant SKCA-BR 2 136494293 136494293 single base substitution T C upstream_gene_variant SKCA-BR 2 136494803 136494803 single base substitution C T upstream_gene_variant SKCA-BR 2 136495410 136495410 single base substitution C T upstream_gene_variant SKCA-BR 2 136497841 136497841 single base substitution C T upstream_gene_variant SKCA-BR 2 136497949 136497949 single base substitution G A upstream_gene_variant SKCA-BR 2 136498623 136498623 single base substitution C T upstream_gene_variant SKCA-BR 2 136503764 136503764 single base substitution C T intron_variant SKCA-BR 2 136503764 136503764 single base substitution C T upstream_gene_variant SKCA-BR 2 136504918 136504922 deletion of <=200bp CAAAA - intron_variant SKCA-BR 2 136504918 136504922 deletion of <=200bp CAAAA - upstream_gene_variant SKCA-BR 2 136505449 136505449 single base substitution C T intron_variant SKCA-BR 2 136505449 136505449 single base substitution C T upstream_gene_variant SKCA-BR 2 136508592 136508592 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 2 136508592 136508592 insertion of <=200bp - AT intron_variant SKCA-BR 2 136508592 136508592 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 2 136508644 136508644 single base substitution C T downstream_gene_variant SKCA-BR 2 136508644 136508644 single base substitution C T intron_variant SKCA-BR 2 136508644 136508644 single base substitution C T upstream_gene_variant SKCA-BR 2 136511081 136511081 single base substitution A G intron_variant SKCA-BR 2 136511081 136511081 single base substitution A G upstream_gene_variant SKCA-BR 2 136511405 136511405 single base substitution G T 3_prime_UTR_variant SKCA-BR 2 136511405 136511405 single base substitution G T intron_variant SKCA-BR 2 136511405 136511405 single base substitution G T upstream_gene_variant SKCA-BR 2 136514000 136514000 single base substitution C T downstream_gene_variant SKCA-BR 2 136514000 136514000 single base substitution C T intron_variant SKCA-BR 2 136515355 136515355 single base substitution A T downstream_gene_variant SKCA-BR 2 136515355 136515355 single base substitution A T intron_variant SKCA-BR 2 136515646 136515646 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 2 136515646 136515646 insertion of <=200bp - TA intron_variant SKCA-BR 2 136517336 136517336 insertion of <=200bp - ATT downstream_gene_variant SKCA-BR 2 136517336 136517336 insertion of <=200bp - ATT intron_variant SKCA-BR 2 136517336 136517338 deletion of <=200bp ATT - downstream_gene_variant SKCA-BR 2 136517336 136517338 deletion of <=200bp ATT - intron_variant SKCA-BR 2 136519214 136519214 single base substitution A T intron_variant SKCA-BR 2 136519516 136519516 single base substitution A T downstream_gene_variant SKCA-BR 2 136519516 136519516 single base substitution A T intron_variant SKCA-BR 2 136520112 136520112 single base substitution C T downstream_gene_variant SKCA-BR 2 136520112 136520112 single base substitution C T intron_variant SKCA-BR 2 136520504 136520504 single base substitution C T downstream_gene_variant SKCA-BR 2 136520504 136520504 single base substitution C T intron_variant SKCA-BR 2 136521528 136521528 single base substitution C T downstream_gene_variant SKCA-BR 2 136521528 136521528 single base substitution C T intron_variant SKCA-BR 2 136526012 136526012 single base substitution C T intron_variant SKCA-BR 2 136526012 136526012 single base substitution C T upstream_gene_variant SKCA-BR 2 136527962 136527980 deletion of <=200bp CATTGGCAATGATTTATAG - intron_variant SKCA-BR 2 136527962 136527980 deletion of <=200bp CATTGGCAATGATTTATAG - upstream_gene_variant SKCA-BR 2 136533580 136533580 single base substitution C T intron_variant SKCA-BR 2 136534370 136534389 deletion of <=200bp GCCGGGCTGGTCTTGAACTC - intron_variant SKCA-BR 2 136535759 136535759 single base substitution C A intron_variant SKCA-BR 2 136536551 136536551 single base substitution G A exon_variant SKCA-BR 2 136536551 136536551 single base substitution G A missense_variant A363T 1087G>A SKCA-BR 2 136539359 136539359 single base substitution C T downstream_gene_variant SKCA-BR 2 136539359 136539359 single base substitution C T intron_variant SKCA-BR 2 136542091 136542091 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 136542091 136542091 single base substitution G A downstream_gene_variant SKCA-BR 2 136542091 136542091 single base substitution G A exon_variant SKCA-BR 2 136543263 136543263 single base substitution T C downstream_gene_variant SKCA-BR 2 136544136 136544138 deletion of <=200bp CTT - downstream_gene_variant SKCM-US 2 136505928 136505928 single base substitution C T exon_variant SKCM-US 2 136505928 136505928 single base substitution C T synonymous_variant I58I 174C>T SKCM-US 2 136505928 136505928 single base substitution C T synonymous_variant I94I 282C>T SKCM-US 2 136511780 136511780 single base substitution C T 3_prime_UTR_variant SKCM-US 2 136511780 136511780 single base substitution C T downstream_gene_variant SKCM-US 2 136511780 136511780 single base substitution C T exon_variant SKCM-US 2 136511780 136511780 single base substitution C T intron_variant SKCM-US 2 136511780 136511780 single base substitution C T missense_variant P89L 266C>T SKCM-US 2 136533860 136533860 single base substitution C T exon_variant SKCM-US 2 136533860 136533860 single base substitution C T missense_variant S331F 992C>T SKCM-US 2 136537829 136537829 single base substitution C T downstream_gene_variant SKCM-US 2 136537829 136537829 single base substitution C T exon_variant SKCM-US 2 136537829 136537829 single base substitution C T missense_variant P421L 1262C>T SKCM-US 2 136537915 136537915 single base substitution G A downstream_gene_variant SKCM-US 2 136537915 136537915 single base substitution G A exon_variant SKCM-US 2 136537915 136537915 single base substitution G A missense_variant E450K 1348G>A SKCM-US 2 136545942 136545942 single base substitution C T downstream_gene_variant SKCM-US 2 136545943 136545943 single base substitution C T downstream_gene_variant SKCM-US 2 136547308 136547308 single base substitution T A downstream_gene_variant STAD-US 2 136513161 136513161 single base substitution G A 3_prime_UTR_variant STAD-US 2 136513161 136513161 single base substitution G A downstream_gene_variant STAD-US 2 136513161 136513161 single base substitution G A exon_variant STAD-US 2 136513161 136513161 single base substitution G A synonymous_variant A136A 408G>A STAD-US 2 136530012 136530012 single base substitution G A exon_variant STAD-US 2 136530012 136530012 single base substitution G A missense_variant R282H 845G>A STAD-US 2 136530012 136530012 single base substitution G A upstream_gene_variant STAD-US 2 136540365 136540365 deletion of <=200bp A - downstream_gene_variant STAD-US 2 136540365 136540365 deletion of <=200bp A - exon_variant STAD-US 2 136540365 136540365 deletion of <=200bp A - frameshift_variant K479 STAD-US 2 136546022 136546022 single base substitution C T downstream_gene_variant STAD-US 2 136547160 136547160 single base substitution G A downstream_gene_variant STAD-US 2 136547334 136547335 deletion of <=200bp TG - downstream_gene_variant STAD-US 2 136547367 136547367 single base substitution A C downstream_gene_variant THCA-SA 2 136511817 136511817 single base substitution A G 3_prime_UTR_variant THCA-SA 2 136511817 136511817 single base substitution A G downstream_gene_variant THCA-SA 2 136511817 136511817 single base substitution A G exon_variant THCA-SA 2 136511817 136511817 single base substitution A G intron_variant THCA-SA 2 136511817 136511817 single base substitution A G synonymous_variant E101E 303A>G UCEC-US 2 136511773 136511773 single base substitution G T 3_prime_UTR_variant UCEC-US 2 136511773 136511773 single base substitution G T downstream_gene_variant UCEC-US 2 136511773 136511773 single base substitution G T exon_variant UCEC-US 2 136511773 136511773 single base substitution G T intron_variant UCEC-US 2 136511773 136511773 single base substitution G T stop_gained G87* 259G>T UCEC-US 2 136513106 136513106 deletion of <=200bp A - 3_prime_UTR_variant UCEC-US 2 136513106 136513106 deletion of <=200bp A - downstream_gene_variant UCEC-US 2 136513106 136513106 deletion of <=200bp A - exon_variant UCEC-US 2 136513106 136513106 deletion of <=200bp A - frameshift_variant E118 UCEC-US 2 136513124 136513124 single base substitution G A 3_prime_UTR_variant UCEC-US 2 136513124 136513124 single base substitution G A downstream_gene_variant UCEC-US 2 136513124 136513124 single base substitution G A exon_variant UCEC-US 2 136513124 136513124 single base substitution G A missense_variant G124D 371G>A UCEC-US 2 136519482 136519482 single base substitution G A downstream_gene_variant UCEC-US 2 136519482 136519482 single base substitution G A intron_variant UCEC-US 2 136519482 136519482 single base substitution G A splice_donor_variant UCEC-US 2 136528282 136528282 single base substitution C T exon_variant UCEC-US 2 136528282 136528282 single base substitution C T missense_variant R267C 799C>T UCEC-US 2 136528282 136528282 single base substitution C T upstream_gene_variant UCEC-US 2 136537799 136537799 single base substitution T G downstream_gene_variant UCEC-US 2 136537799 136537799 single base substitution T G exon_variant UCEC-US 2 136537799 136537799 single base substitution T G missense_variant I411S 1232T>G UCEC-US 2 136540359 136540359 single base substitution G A downstream_gene_variant UCEC-US 2 136540359 136540359 single base substitution G A exon_variant UCEC-US 2 136540359 136540359 single base substitution G A missense_variant D477N 1429G>A UCEC-US 2 136546012 136546012 single base substitution G T downstream_gene_variant UCEC-US 2 136546031 136546031 single base substitution C T downstream_gene_variant UCEC-US 2 136547198 136547198 single base substitution G T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCC46T COSM3708909 c.164C>A p.A55D Substitution - Missense 2:135748348-135748348 + RK015_C COSM1631283 c.1185+9A>G p.? Unknown 2:135779088-135779088 + PCSI_0122_Pa_X COSM3379772 c.1289G>C p.S430T Substitution - Missense 2:135780286-135780286 + TCGA-A8-A0A9-01 COSM441161 c.567G>C p.Q189H Substitution - Missense 2:135761876-135761876 + sysucc-834T COSM5486179 c.1083G>A p.S361S Substitution - coding silent 2:135778977-135778977 + TCGA-A7-A4SA-01 COSM3836890 c.451A>C p.N151H Substitution - Missense 2:135755634-135755634 + TCGA-B0-5116-01 COSM475938 c.476C>A p.P159H Substitution - Missense 2:135755659-135755659 + 1_RESISTANT COSM1720902 c.214+6C>T p.? Unknown 2:135753573-135753573 + TCGA-AA-3510-01 COSM1399559 c.661G>T p.E221* Substitution - Nonsense 2:135770574-135770574 + 8067242 COSM3772443 c.822+1G>A p.? Unknown 2:135770736-135770736 + B107-Tumor COSM1752032 c.442C>G p.Q148E Substitution - Missense 2:135755625-135755625 + 2492720 COSM3566771 c.174C>T p.I58I Substitution - coding silent 2:135748358-135748358 + TCGA-BR-4184-01 COSM297728 c.408G>A p.A136A Substitution - coding silent 2:135755591-135755591 + TCGA-B5-A11O-01 COSM1006846 c.894G>T p.L298F Substitution - Missense 2:135772491-135772491 + HX20T COSM3746523 c.82+2T>G p.? Unknown 2:135742013-135742013 + ccRCC-67 COSM1664871 c.550A>G p.S184G Substitution - Missense 2:135761859-135761859 + HCT8 COSM3116392 c.1428C>T p.D476D Substitution - coding silent 2:135782788-135782788 + CSCC-57-T COSM4463872 c.1309C>T p.P437S Substitution - Missense 2:135780306-135780306 + ME100L COSM230921 c.1238C>T p.T413I Substitution - Missense 2:135780235-135780235 + 26T COSM3714010 c.1049C>A p.A350E Substitution - Missense 2:135776347-135776347 + TCGA-B4-5838-01 COSM1494600 c.277A>C p.I93L Substitution - Missense 2:135754221-135754221 + CN-AML-NR-08-Dx COSM1129561 c.303A>G p.E101E Substitution - coding silent 2:135754247-135754247 + WM3211 COSM3727268 c.1103G>T p.R368M Substitution - Missense 2:135778997-135778997 + TCGA-B5-A11E-01 COSM397164 c.1429G>A p.D477N Substitution - Missense 2:135782789-135782789 + TCGA-EA-A5ZF-01 COSM4838176 c.541C>T p.Q181* Substitution - Nonsense 2:135761850-135761850 + HX16T COSM1613410 c.163G>T p.A55S Substitution - Missense 2:135748347-135748347 + T3021 COSM4738987 c.826C>T p.R276C Substitution - Missense 2:135772423-135772423 + TCGA-AA-A01D-01 COSM299804 c.1483G>A p.D495N Substitution - Missense 2:135782843-135782843 + 587256 COSM1231644 c.1388G>A p.R463K Substitution - Missense 2:135780385-135780385 + TCGA-60-2698-01 COSM716758 c.681G>C p.E227D Substitution - Missense 2:135770594-135770594 + S01170 COSM5667114 c.1405A>G p.R469G Substitution - Missense 2:135782765-135782765 + MOLT-4 COSM1669267 c.1511C>T p.S504F Substitution - Missense 2:135782871-135782871 + NCI-H727 COSM3116394 c.1472A>G p.D491G Substitution - Missense 2:135782832-135782832 + 2492723 COSM3566771 c.174C>T p.I58I Substitution - coding silent 2:135748358-135748358 + 61 COSM5736206 c.184A>G p.S62G Substitution - Missense 2:135748368-135748368 + 587376 COSM1231643 c.1284A>C p.L428F Substitution - Missense 2:135780281-135780281 + 064 COSM1741285 c.1426G>A p.D476N Substitution - Missense 2:135782786-135782786 + LUAD-S01345 COSM397164 c.1429G>A p.D477N Substitution - Missense 2:135782789-135782789 + CN-AML-08-T COSM1129561 c.303A>G p.E101E Substitution - coding silent 2:135754247-135754247 + RK015_C01 COSM1631283 c.1185+9A>G p.? Unknown 2:135779088-135779088 + TCGA-AA-3979-01 COSM297728 c.408G>A p.A136A Substitution - coding silent 2:135755591-135755591 + TCGA-C5-A1BQ-01 COSM4842618 c.658-1G>C p.? Unknown 2:135770570-135770570 + T3512 COSM3116385 c.1082C>T p.S361L Substitution - Missense 2:135778976-135778976 + 631056 COSM324168 c.1106G>A p.R369K Substitution - Missense 2:135779000-135779000 + T3080 COSM4738989 c.1471G>T p.D491Y Substitution - Missense 2:135782831-135782831 + 12T COSM108570 c.1261C>T p.P421S Substitution - Missense 2:135780258-135780258 + PD4203a COSM165386 c.139G>A p.E47K Substitution - Missense 2:135748323-135748323 + TCGA-46-3767-01 COSM716755 c.1235G>T p.W412L Substitution - Missense 2:135780232-135780232 + TCGA-RP-A693-06 COSM4895680 c.1348G>A p.E450K Substitution - Missense 2:135780345-135780345 + 12T COSM107295 c.1266C>T p.F422F Substitution - coding silent 2:135780263-135780263 + B107 COSM1752032 c.442C>G p.Q148E Substitution - Missense 2:135755625-135755625 + PD8978a COSM5802115 c.944delA p.R316fs*27 Deletion - Frameshift 2:135772541-135772541 + TCGA-CC-A3MC-01 COSM1269677 c.460C>T p.L154F Substitution - Missense 2:135755643-135755643 + 8036161 COSM3390944 c.1015G>T p.D339Y Substitution - Missense 2:135776313-135776313 + TCGA-A6-6781-01 COSM1399560 c.687delA p.T231fs*16 Deletion - Frameshift 2:135770600-135770600 + TCGA-AA-A00N-01 COSM277989 c.230T>C p.V77A Substitution - Missense 2:135754174-135754174 + SS6003115 COSM3981748 c.783T>C p.D261D Substitution - coding silent 2:135770696-135770696 + HCC46 COSM3708909 c.164C>A p.A55D Substitution - Missense 2:135748348-135748348 + BD152T COSM5506801 c.1231_1233delATT p.I411delI Deletion - In frame 2:135780228-135780230 + TCGA-RC-A7S9-01 COSM4940260 c.185+1G>T p.? Unknown 2:135748370-135748370 + TCGA-B5-A11E-01 COSM1006843 c.371G>A p.G124D Substitution - Missense 2:135755554-135755554 + RK190_C01 COSM1741285 c.1426G>A p.D476N Substitution - Missense 2:135782786-135782786 + ESO-1130 COSM1269676 c.1087G>A p.A363T Substitution - Missense 2:135778981-135778981 + LUAD-RT-S01856 COSM385051 c.983A>T p.D328V Substitution - Missense 2:135776281-135776281 + TCGA-JW-A5VI-01 COSM3116394 c.1472A>G p.D491G Substitution - Missense 2:135782832-135782832 + SCMC_RM2_ COSM4989344 c.767G>T p.R256I Substitution - Missense 2:135770680-135770680 + DLD1 COSM3116392 c.1428C>T p.D476D Substitution - coding silent 2:135782788-135782788 + SNU-175 COSM3116372 c.407C>T p.A136V Substitution - Missense 2:135755590-135755590 + BD124T COSM5491484 c.603-8T>A p.? Unknown 2:135769761-135769761 + TCGA-FU-A3HZ-01 COSM4838917 c.700G>T p.E234* Substitution - Nonsense 2:135770613-135770613 + 2492721 COSM3566771 c.174C>T p.I58I Substitution - coding silent 2:135748358-135748358 + TCGA-DA-A1I5-06 COSM3566771 c.174C>T p.I58I Substitution - coding silent 2:135748358-135748358 + TCGA-AM-5820-01 COSM3116372 c.407C>T p.A136V Substitution - Missense 2:135755590-135755590 + LUAD-D01603 COSM337734 c.756G>A p.E252E Substitution - coding silent 2:135770669-135770669 + TCGA-EE-A29E-06 COSM3566773 c.992C>T p.S331F Substitution - Missense 2:135776290-135776290 + CRC-02T COSM5454891 c.646G>T p.E216* Substitution - Nonsense 2:135769812-135769812 + CRC-03T COSM5451604 c.973C>T p.R325C Substitution - Missense 2:135776271-135776271 + B65-Tumor COSM1752031 c.127G>T p.D43Y Substitution - Missense 2:135748311-135748311 + TCGA-G9-6356-01 COSM1129561 c.303A>G p.E101E Substitution - coding silent 2:135754247-135754247 + TCGA-IR-A3LH-01 COSM4833453 c.25C>T p.P9S Substitution - Missense 2:135741954-135741954 + TCGA-BR-4361-01 COSM3116381 c.845G>A p.R282H Substitution - Missense 2:135772442-135772442 + TCGA-D1-A103-01 COSM1006847 c.1232T>G p.I411S Substitution - Missense 2:135780229-135780229 + TCGA-AA-A010-01 COSM286267 c.941G>T p.R314I Substitution - Missense 2:135772538-135772538 + TCGA-D1-A167-01 COSM1006844 c.602+1G>A p.? Unknown 2:135761912-135761912 + TCGA-EB-A4P0-01 COSM3566772 c.266C>T p.P89L Substitution - Missense 2:135754210-135754210 + SNUH_G26_S1 COSM4001188 c.328C>A p.R110R Substitution - coding silent 2:135754272-135754272 + 53M COSM5595531 c.757G>A p.E253K Substitution - Missense 2:135770670-135770670 + TCGA-66-2795-01 COSM716757 c.916G>C p.E306Q Substitution - Missense 2:135772513-135772513 + TCGA-B5-A11E-01 COSM1006841 c.259G>T p.G87* Substitution - Nonsense 2:135754203-135754203 + 19 COSM5745956 c.437A>G p.N146S Substitution - Missense 2:135755620-135755620 + PTC-14C COSM4133141 c.583C>A p.L195I Substitution - Missense 2:135761892-135761892 + ESCC_122 COSM5640705 c.165T>G p.A55A Substitution - coding silent 2:135748349-135748349 + PCSI_0217_Pa_P_526 COSM397164 c.1429G>A p.D477N Substitution - Missense 2:135782789-135782789 + 134421 COSM326810 c.155G>C p.S52T Substitution - Missense 2:135748339-135748339 + OSCC-GB_00260111 COSM3714010 c.1049C>A p.A350E Substitution - Missense 2:135776347-135776347 + ESO-640 COSM1269677 c.460C>T p.L154F Substitution - Missense 2:135755643-135755643 + ACINAR09 COSM1733206 c.974G>A p.R325H Substitution - Missense 2:135776272-135776272 + BD186T COSM5501178 c.1394C>T p.P465L Substitution - Missense 2:135782754-135782754 + 1_PRE-TREATMENT COSM1720902 c.214+6C>T p.? Unknown 2:135753573-135753573 + 18 COSM3116366 c.113C>A p.A38E Substitution - Missense 2:135748297-135748297 + TCGA-AA-3681-01 COSM268100 c.1033G>T p.A345S Substitution - Missense 2:135776331-135776331 + CSCC-27-T COSM4476465 c.206C>T p.S69L Substitution - Missense 2:135753559-135753559 + RK107_C01 COSM1631282 c.865G>A p.E289K Substitution - Missense 2:135772462-135772462 + ESCC_BICR_040T COSM5430041 c.941G>A p.R314K Substitution - Missense 2:135772538-135772538 + SNU-175 COSM3116364 c.44C>T p.A15V Substitution - Missense 2:135741973-135741973 + TCGA-D1-A177-01 COSM297728 c.408G>A p.A136A Substitution - coding silent 2:135755591-135755591 + TCGA-22-4593-01 COSM716759 c.591C>T p.I197I Substitution - coding silent 2:135761900-135761900 + 2492722 COSM3566771 c.174C>T p.I58I Substitution - coding silent 2:135748358-135748358 + TCGA-AN-A046-01 COSM3836889 c.293C>A p.S98Y Substitution - Missense 2:135754237-135754237 + TCGA-AA-3510-01 COSM1399558 c.415G>T p.E139* Substitution - Nonsense 2:135755598-135755598 + PTC_221 COSM1129561 c.303A>G p.E101E Substitution - coding silent 2:135754247-135754247 + TCGA-AP-A051-01 COSM1006842 c.353delA p.T119fs*3 Deletion - Frameshift 2:135755536-135755536 + TCGA-DK-A1AG-01 COSM1305653 c.565C>T p.Q189* Substitution - Nonsense 2:135761874-135761874 + SNUH_G76_S1 COSM4001188 c.328C>A p.R110R Substitution - coding silent 2:135754272-135754272 + TCGA-FW-A3R5-06 COSM3894814 c.1262C>T p.P421L Substitution - Missense 2:135780259-135780259 + ESO-1060 COSM1269675 c.1447A>G p.K483E Substitution - Missense 2:135782807-135782807 + T14 COSM1129561 c.303A>G p.E101E Substitution - coding silent 2:135754247-135754247 + T3262 COSM4738988 c.1321C>G p.Q441E Substitution - Missense 2:135780318-135780318 + WM3211 COSM3727269 c.1104G>C p.R368S Substitution - Missense 2:135778998-135778998 + HT55 COSM3116375 c.618T>A p.L206L Substitution - coding silent 2:135769784-135769784 + TCGA-66-2766-01 COSM716756 c.1229A>C p.D410A Substitution - Missense 2:135780226-135780226 + HN_62421 COSM130053 c.1431C>G p.D477E Substitution - Missense 2:135782791-135782791 + LUAD-NYU1219 COSM391878 c.1325_1326insT p.S443fs*16 Insertion - Frameshift 2:135780322-135780323 + LIM1215 COSM3116372 c.407C>T p.A136V Substitution - Missense 2:135755590-135755590 + T2197 COSM4738986 c.312A>G p.T104T Substitution - coding silent 2:135754256-135754256 + YUKAT COSM5394363 c.217C>T p.P73S Substitution - Missense 2:135754161-135754161 + B65 COSM1752031 c.127G>T p.D43Y Substitution - Missense 2:135748311-135748311 + HCT15 COSM3116392 c.1428C>T p.D476D Substitution - coding silent 2:135782788-135782788 + TCGA-D1-A103-01 COSM1006845 c.799C>T p.R267C Substitution - Missense 2:135770712-135770712 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.591242 2q21.3 611216 2428552|CGAP|BC035594|A/G|coding|Glu101Glu|445|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.D410A c.1229A>C 2 136537796 LUSC A G 3-UTRSNV . c.1524+29A>G 2 136540483 ESCA A G Missense p.I268M c.804A>G 2 136528287 HNSC A G Missense p.K483E c.1447A>G 2 136540377 ESCA A G Missense p.M235V c.703A>G 2 136528186 HNSC A T Missense p.N355Y c.1063A>T 2 136536527 LUAD C G Missense p.A7G c.20C>G 2 136499519 HNSC C G Missense p.D477E c.1431C>G 2 136540361 HNSC C T IntronicSNV . c.215-75C>T 2 136511654 CM C T IntronicSNV . c.215-86C>T 2 136511643 CM C T Missense p.L154F c.460C>T 2 136513213 ESCA C T Missense p.P337L c.1010C>T 2 136533878 CM C T Missense p.P421S c.1261C>T 2 136537828 CM C T Missense p.S361L c.1082C>T 2 136536546 HNSC C T Missense p.S402F c.1205C>T 2 136537772 CM C T Missense p.T413I c.1238C>T 2 136537805 CM C T Nonsense p.Q189* c.565C>T 2 136519444 BLCA C T Synonymous p.I197I c.591C>T 2 136519470 LUSC C T Synonymous p.I197I c.591C>T 2 136519470 STAD C T Synonymous p.I58I c.174C>T 2 136505928 CM G A Missense p.A363T c.1087G>A 2 136536551 ESCA G A Missense p.D495N c.1483G>A 2 136540413 COREAD G A Missense p.E289K c.865G>A 2 136530032 HC G A Missense p.E450K c.1348G>A 2 136537915 HNSC G A Missense p.E47K c.139G>A 2 136505893 BRCA G A Missense p.R369K c.1106G>A 2 136536570 SCLC G A Synonymous p.R17R c.51G>A 2 136499550 HNSC G C IntronicSNV . c.508+421G>C 2 136513682 CLL G C Missense p.E306Q c.916G>C 2 136530083 LUSC G C Missense p.Q189H c.567G>C 2 136519446 BRCA G C Missense p.S52T c.155G>C 2 136505909 SCLC G T Missense p.A345S c.1033G>T 2 136533901 COREAD G T Missense p.W412L c.1235G>T 2 136537802 LUSC TAA - InFrameDeletion p.N359delN c.1075_1077delAAT 2 136536538 PRAD T G IntronicSNV . c.215-26T>G 2 136511703 ESCA