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 ACC 1 212245552 212245552 + Nonsense_Mutation SNP G G A TCGA-OR-A5K9-01A-11D-A29I-10 TCGA-OR-A5K9-11A-11D-A29L-10 g.chr1:212245552G>A c.1032G>A c.(1030-1032)tgG>tgA p.W344* BLCA 1 212236235 212236235 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr1:212236235G>T c.470G>T c.(469-471)tGt>tTt p.C157F BLCA 1 212245552 212245552 + Nonsense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 g.chr1:212245552G>A c.1032G>A c.(1030-1032)tgG>tgA p.W344* BLCA 1 212254019 212254019 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr1:212254019G>C c.1188G>C c.(1186-1188)gaG>gaC p.E396D BLCA 1 212273823 212273823 + Missense_Mutation SNP C C A TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr1:212273823C>A c.1491C>A c.(1489-1491)ttC>ttA p.F497L BLCA 1 212273891 212273891 + Missense_Mutation SNP C C T TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr1:212273891C>T c.1559C>T c.(1558-1560)tCg>tTg p.S520L BLCA 1 212274365 212274365 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr1:212274365G>A c.2033G>A c.(2032-2034)cGa>cAa p.R678Q BRCA 1 212241661 212241661 + Missense_Mutation SNP G G A TCGA-D8-A27V-01A-12D-A17D-09 TCGA-D8-A27V-10A-01D-A17D-09 g.chr1:212241661G>A c.809G>A c.(808-810)cGa>cAa p.R270Q BRCA 1 212274365 212274365 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr1:212274365G>A c.2033G>A c.(2032-2034)cGa>cAa p.R678Q CHOL 1 212274368 212274368 + Missense_Mutation SNP G G T TCGA-WD-A7RX-01A-12D-A417-09 TCGA-WD-A7RX-10A-01D-A41A-09 g.chr1:212274368G>T c.2036G>T c.(2035-2037)aGt>aTt p.S679I COAD 1 212218015 212218015 + Silent SNP A A G TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr1:212218015A>G c.192A>G c.(190-192)gaA>gaG p.E64E COAD 1 212218052 212218052 + Nonsense_Mutation SNP C C T TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr1:212218052C>T c.229C>T c.(229-231)Cga>Tga p.R77* COAD 1 212218053 212218053 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:212218053G>A c.230G>A c.(229-231)cGa>cAa p.R77Q COAD 1 212236291 212236291 + Splice_Site DEL G G - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:212236291delG c.526delG c.(526-528)gat>at p.D176fs COAD 1 212251579 212251579 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr1:212251579G>A c.1100G>A c.(1099-1101)tGc>tAc p.C367Y COAD 1 212253986 212253986 + Frame_Shift_Del DEL A A - TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:212253986delA c.1155delA c.(1153-1155)ctafs p.L385fs COAD 1 212254002 212254002 + Missense_Mutation SNP A A G TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:212254002A>G c.1171A>G c.(1171-1173)Aat>Gat p.N391D COAD 1 212273604 212273604 + Silent SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr1:212273604G>A c.1272G>A c.(1270-1272)acG>acA p.T424T COAD 1 212273745 212273745 + Silent SNP C C A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:212273745C>A c.1413C>A c.(1411-1413)acC>acA p.T471T COAD 1 212274108 212274108 + Silent SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:212274108T>G c.1776T>G c.(1774-1776)gcT>gcG p.A592A COAD 1 212274119 212274119 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:212274119A>C c.1787A>C c.(1786-1788)gAa>gCa p.E596A COAD 1 212274284 212274284 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr1:212274284G>A c.1952G>A c.(1951-1953)gGc>gAc p.G651D COADREAD 1 212218015 212218015 + Silent SNP A A G TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr1:212218015A>G c.192A>G c.(190-192)gaA>gaG p.E64E COADREAD 1 212218052 212218052 + Nonsense_Mutation SNP C C T TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr1:212218052C>T c.229C>T c.(229-231)Cga>Tga p.R77* COADREAD 1 212218053 212218053 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:212218053G>A c.230G>A c.(229-231)cGa>cAa p.R77Q COADREAD 1 212236291 212236291 + Splice_Site DEL G G - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:212236291delG c.526delG c.(526-528)gat>at p.D176fs COADREAD 1 212251579 212251579 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr1:212251579G>A c.1100G>A c.(1099-1101)tGc>tAc p.C367Y COADREAD 1 212253986 212253986 + Frame_Shift_Del DEL A A - TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:212253986delA c.1155delA c.(1153-1155)ctafs p.L385fs COADREAD 1 212254002 212254002 + Missense_Mutation SNP A A G TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:212254002A>G c.1171A>G c.(1171-1173)Aat>Gat p.N391D COADREAD 1 212273604 212273604 + Silent SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr1:212273604G>A c.1272G>A c.(1270-1272)acG>acA p.T424T COADREAD 1 212273745 212273745 + Silent SNP C C A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:212273745C>A c.1413C>A c.(1411-1413)acC>acA p.T471T COADREAD 1 212274108 212274108 + Silent SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:212274108T>G c.1776T>G c.(1774-1776)gcT>gcG p.A592A COADREAD 1 212274119 212274119 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:212274119A>C c.1787A>C c.(1786-1788)gAa>gCa p.E596A COADREAD 1 212274284 212274284 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr1:212274284G>A c.1952G>A c.(1951-1953)gGc>gAc p.G651D DLBC 1 212218054 212218054 + Silent SNP A A C TCGA-GS-A9TZ-01A-11D-A38X-10 TCGA-GS-A9TZ-10A-01D-A38X-10 g.chr1:212218054A>C c.231A>C c.(229-231)cgA>cgC p.R77R ESCA 1 212241588 212241588 + Missense_Mutation SNP C C T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 g.chr1:212241588C>T c.736C>T c.(736-738)Cgt>Tgt p.R246C ESCA 1 212241589 212241589 + Missense_Mutation SNP G G A TCGA-V5-AASW-01A-11D-A403-09 TCGA-V5-AASW-10A-01D-A403-09 g.chr1:212241589G>A c.737G>A c.(736-738)cGt>cAt p.R246H ESCA 1 212254045 212254045 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr1:212254045C>T c.1214C>T c.(1213-1215)aCg>aTg p.T405M ESCA 1 212274230 212274230 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 g.chr1:212274230G>T c.1898G>T c.(1897-1899)tGt>tTt p.C633F ESCA 1 212274368 212274368 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 g.chr1:212274368G>A c.2036G>A c.(2035-2037)aGt>aAt p.S679N GBMLGG 1 212254006 212254006 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:212254006G>T c.1175G>T c.(1174-1176)aGa>aTa p.R392I HNSC 1 212274331 212274331 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 g.chr1:212274331G>T c.1999G>T c.(1999-2001)Gca>Tca p.A667S KICH 1 212254059 212254059 + Missense_Mutation SNP T T C TCGA-KL-8331-01A-11D-2310-10 TCGA-KL-8331-11A-01D-2310-10 g.chr1:212254059T>C c.1228T>C c.(1228-1230)Tct>Cct p.S410P KIPAN 1 212254059 212254059 + Missense_Mutation SNP T T C TCGA-KL-8331-01A-11D-2310-10 TCGA-KL-8331-11A-01D-2310-10 g.chr1:212254059T>C c.1228T>C c.(1228-1230)Tct>Cct p.S410P LGG 1 212254006 212254006 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:212254006G>T c.1175G>T c.(1174-1176)aGa>aTa p.R392I LIHC 1 212238257 212238257 + Splice_Site SNP A A G TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr1:212238257A>G c.e7-1 LUAD 1 212245479 212245479 + Missense_Mutation SNP A A C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 g.chr1:212245479A>C c.959A>C c.(958-960)tAt>tCt p.Y320S LUAD 1 212273710 212273710 + Missense_Mutation SNP C C G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 g.chr1:212273710C>G c.1378C>G c.(1378-1380)Ctt>Gtt p.L460V LUAD 1 212273760 212273760 + Silent SNP C C G TCGA-17-Z027-01A-01W-0746-08 TCGA-17-Z027-11A-01W-0746-08 g.chr1:212273760C>G c.1428C>G c.(1426-1428)gcC>gcG p.A476A LUSC 1 212220693 212220693 + Missense_Mutation SNP C C A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 g.chr1:212220693C>A c.394C>A c.(394-396)Ctg>Atg p.L132M LUSC 1 212273761 212273761 + Missense_Mutation SNP C C T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 g.chr1:212273761C>T c.1429C>T c.(1429-1431)Cgg>Tgg p.R477W LUSC 1 212273994 212273994 + Missense_Mutation SNP G G C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 g.chr1:212273994G>C c.1662G>C c.(1660-1662)agG>agC p.R554S OV 1 212274368 212274368 + Missense_Mutation SNP G G C TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 g.chr1:212274368G>C c.2036G>C c.(2035-2037)aGt>aCt p.S679T PAAD 1 212209261 212209261 + Missense_Mutation SNP C C G TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 g.chr1:212209261C>G c.29C>G c.(28-30)cCc>cGc p.P10R PAAD 1 212209262 212209262 + Silent SNP C C G TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 g.chr1:212209262C>G c.30C>G c.(28-30)ccC>ccG p.P10P PAAD 1 212251574 212251574 + Silent SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:212251574T>G c.1095T>G c.(1093-1095)tcT>tcG p.S365S PRAD 1 212274088 212274088 + Silent SNP T T C TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 g.chr1:212274088T>C c.1756T>C c.(1756-1758)Ttg>Ctg p.L586L SARC 1 212274107 212274107 + Missense_Mutation SNP C C T TCGA-DX-A8BS-01A-11D-A37C-09 TCGA-DX-A8BS-11A-13D-A37F-09 g.chr1:212274107C>T c.1775C>T c.(1774-1776)gCt>gTt p.A592V SKCM 1 212216443 212216443 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr1:212216443G>A c.161G>A c.(160-162)gGa>gAa p.G54E SKCM 1 212241644 212241644 + Silent SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr1:212241644C>T c.792C>T c.(790-792)taC>taT p.Y264Y SKCM 1 212241645 212241645 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr1:212241645C>T c.793C>T c.(793-795)Cca>Tca p.P265S SKCM 1 212273637 212273637 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:212273637G>A c.1305G>A c.(1303-1305)agG>agA p.R435R SKCM 1 212273663 212273663 + Missense_Mutation SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr1:212273663C>T c.1331C>T c.(1330-1332)tCc>tTc p.S444F SKCM 1 212273795 212273795 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:212273795C>T c.1463C>T c.(1462-1464)tCc>tTc p.S488F SKCM 1 212273810 212273810 + Missense_Mutation SNP C C T TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr1:212273810C>T c.1478C>T c.(1477-1479)cCa>cTa p.P493L SKCM 1 212273882 212273882 + Missense_Mutation SNP C C T TCGA-D3-A5GS-06A-11D-A27K-08 TCGA-D3-A5GS-10A-01D-A27N-08 g.chr1:212273882C>T c.1550C>T c.(1549-1551)cCa>cTa p.P517L SKCM 1 212273911 212273911 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr1:212273911C>T c.1579C>T c.(1579-1581)Ccg>Tcg p.P527S SKCM 1 212273912 212273912 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr1:212273912C>T c.1580C>T c.(1579-1581)cCg>cTg p.P527L SKCM 1 212274335 212274335 + Missense_Mutation SNP C C T TCGA-EE-A29Q-06A-11D-A197-08 TCGA-EE-A29Q-10A-01D-A199-08 g.chr1:212274335C>T c.2003C>T c.(2002-2004)gCc>gTc p.A668V SKCM 1 212274371 212274371 + Missense_Mutation SNP C C T TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr1:212274371C>T c.2039C>T c.(2038-2040)cCg>cTg p.P680L SKCM 1 212276201 212276201 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:212276201C>T c.2112C>T c.(2110-2112)agC>agT p.S704S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 212242032 212242032 single base substitution G A exon_variant BLCA-CN 1 212242032 212242032 single base substitution G A synonymous_variant L261L 783G>A BLCA-CN 1 212242032 212242032 single base substitution G A synonymous_variant L303L 909G>A BLCA-CN 1 212242032 212242032 single base substitution G A upstream_gene_variant BLCA-CN 1 212242035 212242035 single base substitution G A exon_variant BLCA-CN 1 212242035 212242035 single base substitution G A synonymous_variant K262K 786G>A BLCA-CN 1 212242035 212242035 single base substitution G A synonymous_variant K304K 912G>A BLCA-CN 1 212242035 212242035 single base substitution G A upstream_gene_variant BLCA-US 1 212274365 212274365 single base substitution G A downstream_gene_variant BLCA-US 1 212274365 212274365 single base substitution G A exon_variant BLCA-US 1 212274365 212274365 single base substitution G A missense_variant R636Q 1907G>A BLCA-US 1 212274365 212274365 single base substitution G A missense_variant R678Q 2033G>A BRCA-EU 1 212204096 212204096 single base substitution G A upstream_gene_variant BRCA-EU 1 212205010 212205010 single base substitution G A upstream_gene_variant BRCA-EU 1 212206079 212206079 single base substitution C G upstream_gene_variant BRCA-EU 1 212206243 212206243 single base substitution C G upstream_gene_variant BRCA-EU 1 212206619 212206619 single base substitution C G upstream_gene_variant BRCA-EU 1 212207145 212207145 single base substitution C T upstream_gene_variant BRCA-EU 1 212207426 212207426 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 212208931 212208931 single base substitution G A 5_prime_UTR_variant BRCA-EU 1 212208931 212208931 single base substitution G A upstream_gene_variant BRCA-EU 1 212209050 212209050 single base substitution G T 5_prime_UTR_variant BRCA-EU 1 212209050 212209050 single base substitution G T upstream_gene_variant BRCA-EU 1 212211465 212211465 single base substitution C G intron_variant BRCA-EU 1 212211471 212211471 single base substitution T A intron_variant BRCA-EU 1 212215926 212215927 deletion of <=200bp TT - intron_variant BRCA-EU 1 212217179 212217179 single base substitution A C intron_variant BRCA-EU 1 212218195 212218195 single base substitution C A intron_variant BRCA-EU 1 212218629 212218629 single base substitution G A intron_variant BRCA-EU 1 212219822 212219822 single base substitution C T intron_variant BRCA-EU 1 212220159 212220159 single base substitution T G intron_variant BRCA-EU 1 212221184 212221184 single base substitution T C intron_variant BRCA-EU 1 212222114 212222114 single base substitution C G intron_variant BRCA-EU 1 212222512 212222512 single base substitution G A intron_variant BRCA-EU 1 212222614 212222614 single base substitution G C intron_variant BRCA-EU 1 212223632 212223632 single base substitution C T intron_variant BRCA-EU 1 212223967 212223967 single base substitution C T intron_variant BRCA-EU 1 212225061 212225061 single base substitution A G intron_variant BRCA-EU 1 212225766 212225766 single base substitution G A intron_variant BRCA-EU 1 212225959 212225959 single base substitution C T intron_variant BRCA-EU 1 212226482 212226482 single base substitution C G intron_variant BRCA-EU 1 212226567 212226567 single base substitution G T intron_variant BRCA-EU 1 212227414 212227414 single base substitution G C intron_variant BRCA-EU 1 212229279 212229279 single base substitution C T intron_variant BRCA-EU 1 212230248 212230248 single base substitution A C intron_variant BRCA-EU 1 212230641 212230641 single base substitution T C intron_variant BRCA-EU 1 212231189 212231189 single base substitution G C intron_variant BRCA-EU 1 212231208 212231208 single base substitution G A intron_variant BRCA-EU 1 212231661 212231661 single base substitution C G intron_variant BRCA-EU 1 212232661 212232661 single base substitution C A intron_variant BRCA-EU 1 212232798 212232798 single base substitution C T intron_variant BRCA-EU 1 212232814 212232814 single base substitution C T intron_variant BRCA-EU 1 212233197 212233197 deletion of <=200bp A - intron_variant BRCA-EU 1 212233289 212233289 single base substitution A G intron_variant BRCA-EU 1 212234148 212234148 single base substitution G C intron_variant BRCA-EU 1 212235399 212235399 single base substitution C T intron_variant BRCA-EU 1 212236718 212236718 single base substitution C T intron_variant BRCA-EU 1 212237041 212237041 deletion of <=200bp T - intron_variant BRCA-EU 1 212237172 212237172 single base substitution C G intron_variant BRCA-EU 1 212237359 212237359 single base substitution C G intron_variant BRCA-EU 1 212238691 212238691 single base substitution T A intron_variant BRCA-EU 1 212239237 212239237 single base substitution C T intron_variant BRCA-EU 1 212239616 212239616 single base substitution T G intron_variant BRCA-EU 1 212240354 212240354 single base substitution G A intron_variant BRCA-EU 1 212240572 212240572 single base substitution T C intron_variant BRCA-EU 1 212240572 212240572 single base substitution T C upstream_gene_variant BRCA-EU 1 212240638 212240638 single base substitution G A intron_variant BRCA-EU 1 212240638 212240638 single base substitution G A upstream_gene_variant BRCA-EU 1 212242607 212242607 deletion of <=200bp T - intron_variant BRCA-EU 1 212242607 212242607 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 212242891 212242891 single base substitution T A intron_variant BRCA-EU 1 212242891 212242891 single base substitution T A upstream_gene_variant BRCA-EU 1 212245133 212245133 single base substitution T G intron_variant BRCA-EU 1 212245133 212245133 single base substitution T G upstream_gene_variant BRCA-EU 1 212245384 212245384 single base substitution A T intron_variant BRCA-EU 1 212245384 212245384 single base substitution A T upstream_gene_variant BRCA-EU 1 212245458 212245458 single base substitution G A exon_variant BRCA-EU 1 212245458 212245458 single base substitution G A missense_variant G271E 812G>A BRCA-EU 1 212245458 212245458 single base substitution G A missense_variant G313E 938G>A BRCA-EU 1 212246033 212246033 single base substitution T A intron_variant BRCA-EU 1 212246439 212246439 single base substitution T C intron_variant BRCA-EU 1 212246746 212246746 single base substitution C A intron_variant BRCA-EU 1 212247235 212247235 single base substitution G C intron_variant BRCA-EU 1 212250369 212250369 single base substitution G A intron_variant BRCA-EU 1 212250369 212250369 single base substitution G A upstream_gene_variant BRCA-EU 1 212254628 212254628 single base substitution T G intron_variant BRCA-EU 1 212255311 212255311 single base substitution C T intron_variant BRCA-EU 1 212255530 212255530 single base substitution T A intron_variant BRCA-EU 1 212255628 212255628 single base substitution T A intron_variant BRCA-EU 1 212256829 212256829 single base substitution G C intron_variant BRCA-EU 1 212256924 212256924 single base substitution A G intron_variant BRCA-EU 1 212257046 212257046 single base substitution G T intron_variant BRCA-EU 1 212258241 212258241 single base substitution T A intron_variant BRCA-EU 1 212261619 212261619 single base substitution G A intron_variant BRCA-EU 1 212261917 212261917 single base substitution A C intron_variant BRCA-EU 1 212262134 212262134 single base substitution A G intron_variant BRCA-EU 1 212263598 212263598 insertion of <=200bp - TC intron_variant BRCA-EU 1 212263930 212263930 single base substitution G A intron_variant BRCA-EU 1 212264127 212264127 single base substitution A G intron_variant BRCA-EU 1 212264556 212264556 single base substitution C A intron_variant BRCA-EU 1 212265160 212265160 single base substitution A G intron_variant BRCA-EU 1 212267317 212267317 single base substitution G A intron_variant BRCA-EU 1 212267368 212267368 single base substitution G A intron_variant BRCA-EU 1 212267818 212267818 single base substitution G A intron_variant BRCA-EU 1 212268597 212268597 single base substitution C G intron_variant BRCA-EU 1 212270808 212270808 single base substitution T C intron_variant BRCA-EU 1 212270808 212270808 single base substitution T C upstream_gene_variant BRCA-EU 1 212270948 212270948 single base substitution G T intron_variant BRCA-EU 1 212270948 212270948 single base substitution G T upstream_gene_variant BRCA-EU 1 212271466 212271466 single base substitution G A intron_variant BRCA-EU 1 212271466 212271466 single base substitution G A upstream_gene_variant BRCA-EU 1 212271893 212271893 single base substitution C A intron_variant BRCA-EU 1 212271893 212271893 single base substitution C A upstream_gene_variant BRCA-EU 1 212271975 212271975 single base substitution C G intron_variant BRCA-EU 1 212271975 212271975 single base substitution C G upstream_gene_variant BRCA-EU 1 212272731 212272731 single base substitution A G intron_variant BRCA-EU 1 212272731 212272731 single base substitution A G upstream_gene_variant BRCA-EU 1 212272954 212272954 single base substitution G T intron_variant BRCA-EU 1 212272954 212272954 single base substitution G T upstream_gene_variant BRCA-EU 1 212273669 212273669 single base substitution C T exon_variant BRCA-EU 1 212273669 212273669 single base substitution C T missense_variant S404L 1211C>T BRCA-EU 1 212273669 212273669 single base substitution C T missense_variant S446L 1337C>T BRCA-EU 1 212273669 212273669 single base substitution C T upstream_gene_variant BRCA-EU 1 212273981 212273981 single base substitution G T downstream_gene_variant BRCA-EU 1 212273981 212273981 single base substitution G T exon_variant BRCA-EU 1 212273981 212273981 single base substitution G T missense_variant R508I 1523G>T BRCA-EU 1 212273981 212273981 single base substitution G T missense_variant R550I 1649G>T BRCA-EU 1 212273981 212273981 single base substitution G T upstream_gene_variant BRCA-EU 1 212275443 212275443 single base substitution G A downstream_gene_variant BRCA-EU 1 212275443 212275443 single base substitution G A intron_variant BRCA-EU 1 212276141 212276141 single base substitution G C downstream_gene_variant BRCA-EU 1 212276141 212276141 single base substitution G C intron_variant BRCA-EU 1 212277924 212277924 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 1 212277924 212277924 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 212277924 212277924 deletion of <=200bp A - exon_variant BRCA-EU 1 212277924 212277924 deletion of <=200bp A - intron_variant BRCA-EU 1 212278027 212278027 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 212278027 212278027 single base substitution C T downstream_gene_variant BRCA-EU 1 212278027 212278027 single base substitution C T intron_variant BRCA-EU 1 212278301 212278301 single base substitution T A 3_prime_UTR_variant BRCA-EU 1 212278301 212278301 single base substitution T A downstream_gene_variant BRCA-EU 1 212278301 212278301 single base substitution T A intron_variant BRCA-EU 1 212280063 212280063 single base substitution A G downstream_gene_variant BRCA-EU 1 212280063 212280063 single base substitution A G intron_variant BRCA-EU 1 212281665 212281665 single base substitution C T downstream_gene_variant BRCA-EU 1 212284540 212284540 single base substitution C G downstream_gene_variant BRCA-EU 1 212285168 212285168 single base substitution C T downstream_gene_variant BRCA-EU 1 212285192 212285192 single base substitution G C downstream_gene_variant BRCA-EU 1 212285648 212285648 single base substitution G C downstream_gene_variant BRCA-EU 1 212285708 212285708 single base substitution G C downstream_gene_variant BRCA-FR 1 212209050 212209050 single base substitution G T 5_prime_UTR_variant BRCA-FR 1 212209050 212209050 single base substitution G T upstream_gene_variant BRCA-FR 1 212222114 212222114 single base substitution C G intron_variant BRCA-FR 1 212227414 212227414 single base substitution G C intron_variant BRCA-FR 1 212231017 212231017 single base substitution A G intron_variant BRCA-FR 1 212232441 212232441 single base substitution T C intron_variant BRCA-FR 1 212237172 212237172 single base substitution C G intron_variant BRCA-FR 1 212249268 212249268 single base substitution A G intron_variant BRCA-FR 1 212249268 212249268 single base substitution A G upstream_gene_variant BRCA-FR 1 212272954 212272954 single base substitution G T intron_variant BRCA-FR 1 212272954 212272954 single base substitution G T upstream_gene_variant BRCA-FR 1 212284540 212284540 single base substitution C G downstream_gene_variant BRCA-FR 1 212285192 212285192 single base substitution G C downstream_gene_variant BRCA-UK 1 212222614 212222614 single base substitution G C intron_variant BRCA-UK 1 212239164 212239164 single base substitution C T intron_variant BRCA-UK 1 212241634 212241634 single base substitution C T intron_variant BRCA-UK 1 212241634 212241634 single base substitution C T missense_variant S219F 656C>T BRCA-UK 1 212241634 212241634 single base substitution C T missense_variant S261F 782C>T BRCA-UK 1 212241634 212241634 single base substitution C T upstream_gene_variant BRCA-UK 1 212244022 212244022 single base substitution C G intron_variant BRCA-UK 1 212244022 212244022 single base substitution C G upstream_gene_variant BRCA-UK 1 212245384 212245384 single base substitution A T intron_variant BRCA-UK 1 212245384 212245384 single base substitution A T upstream_gene_variant BRCA-UK 1 212273981 212273981 single base substitution G T downstream_gene_variant BRCA-UK 1 212273981 212273981 single base substitution G T exon_variant BRCA-UK 1 212273981 212273981 single base substitution G T missense_variant R508I 1523G>T BRCA-UK 1 212273981 212273981 single base substitution G T missense_variant R550I 1649G>T BRCA-UK 1 212273981 212273981 single base substitution G T upstream_gene_variant BRCA-UK 1 212274407 212274407 single base substitution G A downstream_gene_variant BRCA-UK 1 212274407 212274407 single base substitution G A exon_variant BRCA-UK 1 212274407 212274407 single base substitution G A missense_variant G650E 1949G>A BRCA-UK 1 212274407 212274407 single base substitution G A missense_variant G692E 2075G>A BRCA-US 1 212209203 212209203 single base substitution C A 5_prime_UTR_variant BRCA-US 1 212209203 212209203 single base substitution C A exon_variant BRCA-US 1 212241661 212241661 single base substitution G A intron_variant BRCA-US 1 212241661 212241661 single base substitution G A missense_variant R228Q 683G>A BRCA-US 1 212241661 212241661 single base substitution G A missense_variant R270Q 809G>A BRCA-US 1 212241661 212241661 single base substitution G A upstream_gene_variant BRCA-US 1 212274365 212274365 single base substitution G A downstream_gene_variant BRCA-US 1 212274365 212274365 single base substitution G A exon_variant BRCA-US 1 212274365 212274365 single base substitution G A missense_variant R636Q 1907G>A BRCA-US 1 212274365 212274365 single base substitution G A missense_variant R678Q 2033G>A BTCA-JP 1 212208666 212208666 single base substitution C T upstream_gene_variant BTCA-JP 1 212216532 212216532 single base substitution A G intron_variant CESC-US 1 212251014 212251014 single base substitution C T intron_variant CESC-US 1 212251014 212251014 single base substitution C T upstream_gene_variant CLLE-ES 1 212211456 212211456 single base substitution C G intron_variant CLLE-ES 1 212233096 212233096 single base substitution T C intron_variant CLLE-ES 1 212235481 212235481 single base substitution A G intron_variant COAD-US 1 212218053 212218053 single base substitution G A exon_variant COAD-US 1 212218053 212218053 single base substitution G A missense_variant R35Q 104G>A COAD-US 1 212218053 212218053 single base substitution G A missense_variant R77Q 230G>A COAD-US 1 212236291 212236291 deletion of <=200bp G - frameshift_variant D134 COAD-US 1 212236291 212236291 deletion of <=200bp G - frameshift_variant D176 COAD-US 1 212236291 212236291 deletion of <=200bp G - splice_region_variant COAD-US 1 212254002 212254002 single base substitution A G exon_variant COAD-US 1 212254002 212254002 single base substitution A G missense_variant N349D 1045A>G COAD-US 1 212254002 212254002 single base substitution A G missense_variant N391D 1171A>G COAD-US 1 212273604 212273604 single base substitution G A exon_variant COAD-US 1 212273604 212273604 single base substitution G A synonymous_variant T382T 1146G>A COAD-US 1 212273604 212273604 single base substitution G A synonymous_variant T424T 1272G>A COAD-US 1 212273604 212273604 single base substitution G A upstream_gene_variant COAD-US 1 212274284 212274284 single base substitution G A downstream_gene_variant COAD-US 1 212274284 212274284 single base substitution G A exon_variant COAD-US 1 212274284 212274284 single base substitution G A missense_variant G609D 1826G>A COAD-US 1 212274284 212274284 single base substitution G A missense_variant G651D 1952G>A COCA-CN 1 212236333 212236333 single base substitution C A intron_variant COCA-CN 1 212238327 212238327 single base substitution A G exon_variant COCA-CN 1 212238327 212238327 single base substitution A G missense_variant K157E 469A>G COCA-CN 1 212238327 212238327 single base substitution A G missense_variant K199E 595A>G COCA-CN 1 212241700 212241700 single base substitution T A intron_variant COCA-CN 1 212241700 212241700 single base substitution T A upstream_gene_variant COCA-CN 1 212251580 212251580 single base substitution C T exon_variant COCA-CN 1 212251580 212251580 single base substitution C T synonymous_variant C325C 975C>T COCA-CN 1 212251580 212251580 single base substitution C T synonymous_variant C367C 1101C>T COCA-CN 1 212251580 212251580 single base substitution C T upstream_gene_variant COCA-CN 1 212273634 212273634 single base substitution C A exon_variant COCA-CN 1 212273634 212273634 single base substitution C A synonymous_variant P392P 1176C>A COCA-CN 1 212273634 212273634 single base substitution C A synonymous_variant P434P 1302C>A COCA-CN 1 212273634 212273634 single base substitution C A upstream_gene_variant ESAD-UK 1 212205000 212205000 single base substitution T C upstream_gene_variant ESAD-UK 1 212205503 212205503 single base substitution C T upstream_gene_variant ESAD-UK 1 212206234 212206234 single base substitution G A upstream_gene_variant ESAD-UK 1 212212466 212212466 single base substitution A G intron_variant ESAD-UK 1 212215240 212215240 single base substitution A C intron_variant ESAD-UK 1 212217559 212217559 single base substitution C G intron_variant ESAD-UK 1 212222245 212222252 deletion of <=200bp TTTGTTTG - intron_variant ESAD-UK 1 212222858 212222858 single base substitution G A intron_variant ESAD-UK 1 212229688 212229688 single base substitution T C intron_variant ESAD-UK 1 212232058 212232058 single base substitution A T intron_variant ESAD-UK 1 212236643 212236643 single base substitution T A intron_variant ESAD-UK 1 212237797 212237797 single base substitution C T intron_variant ESAD-UK 1 212238689 212238689 deletion of <=200bp G - intron_variant ESAD-UK 1 212238691 212238691 single base substitution T A intron_variant ESAD-UK 1 212240902 212240902 single base substitution A G intron_variant ESAD-UK 1 212240902 212240902 single base substitution A G upstream_gene_variant ESAD-UK 1 212241610 212241610 single base substitution G A intron_variant ESAD-UK 1 212241610 212241610 single base substitution G A missense_variant R211Q 632G>A ESAD-UK 1 212241610 212241610 single base substitution G A missense_variant R253Q 758G>A ESAD-UK 1 212241610 212241610 single base substitution G A upstream_gene_variant ESAD-UK 1 212248071 212248071 single base substitution G A intron_variant ESAD-UK 1 212248317 212248317 single base substitution C T intron_variant ESAD-UK 1 212249117 212249117 single base substitution G A intron_variant ESAD-UK 1 212249117 212249117 single base substitution G A upstream_gene_variant ESAD-UK 1 212249817 212249817 single base substitution T C intron_variant ESAD-UK 1 212249817 212249817 single base substitution T C upstream_gene_variant ESAD-UK 1 212250562 212250562 single base substitution G C intron_variant ESAD-UK 1 212250562 212250562 single base substitution G C upstream_gene_variant ESAD-UK 1 212252338 212252338 single base substitution C T intron_variant ESAD-UK 1 212252338 212252338 single base substitution C T upstream_gene_variant ESAD-UK 1 212253639 212253639 single base substitution T G intron_variant ESAD-UK 1 212253639 212253639 single base substitution T G upstream_gene_variant ESAD-UK 1 212258758 212258758 single base substitution C A intron_variant ESAD-UK 1 212258898 212258898 single base substitution C A intron_variant ESAD-UK 1 212260864 212260864 single base substitution C A intron_variant ESAD-UK 1 212261904 212261904 single base substitution G C intron_variant ESAD-UK 1 212263366 212263366 single base substitution A T intron_variant ESAD-UK 1 212267310 212267310 insertion of <=200bp - T intron_variant ESAD-UK 1 212268000 212268000 single base substitution G A intron_variant ESAD-UK 1 212268766 212268766 single base substitution A G intron_variant ESAD-UK 1 212274803 212274803 single base substitution G A downstream_gene_variant ESAD-UK 1 212274803 212274803 single base substitution G A intron_variant ESAD-UK 1 212275422 212275422 single base substitution T G downstream_gene_variant ESAD-UK 1 212275422 212275422 single base substitution T G intron_variant ESAD-UK 1 212277106 212277106 single base substitution A T 3_prime_UTR_variant ESAD-UK 1 212277106 212277106 single base substitution A T downstream_gene_variant ESAD-UK 1 212277106 212277106 single base substitution A T exon_variant ESAD-UK 1 212277106 212277106 single base substitution A T intron_variant ESAD-UK 1 212277161 212277161 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 1 212277161 212277161 deletion of <=200bp A - downstream_gene_variant ESAD-UK 1 212277161 212277161 deletion of <=200bp A - exon_variant ESAD-UK 1 212277161 212277161 deletion of <=200bp A - intron_variant ESAD-UK 1 212281241 212281241 single base substitution C G downstream_gene_variant ESAD-UK 1 212281312 212281312 single base substitution C T downstream_gene_variant ESAD-UK 1 212282016 212282016 single base substitution G A downstream_gene_variant ESAD-UK 1 212282873 212282873 single base substitution C T downstream_gene_variant ESCA-CN 1 212251593 212251593 single base substitution G A exon_variant ESCA-CN 1 212251593 212251593 single base substitution G A missense_variant D330N 988G>A ESCA-CN 1 212251593 212251593 single base substitution G A missense_variant D372N 1114G>A ESCA-CN 1 212251593 212251593 single base substitution G A upstream_gene_variant ESCA-CN 1 212254019 212254019 single base substitution G C exon_variant ESCA-CN 1 212254019 212254019 single base substitution G C missense_variant E354D 1062G>C ESCA-CN 1 212254019 212254019 single base substitution G C missense_variant E396D 1188G>C ESCA-CN 1 212274203 212274203 single base substitution C T downstream_gene_variant ESCA-CN 1 212274203 212274203 single base substitution C T exon_variant ESCA-CN 1 212274203 212274203 single base substitution C T missense_variant P582L 1745C>T ESCA-CN 1 212274203 212274203 single base substitution C T missense_variant P624L 1871C>T LAML-KR 1 212224946 212224946 single base substitution G T intron_variant LAML-KR 1 212225215 212225215 single base substitution G A intron_variant LAML-KR 1 212225344 212225344 single base substitution G A intron_variant LAML-KR 1 212277589 212277589 single base substitution C G 3_prime_UTR_variant LAML-KR 1 212277589 212277589 single base substitution C G downstream_gene_variant LAML-KR 1 212277589 212277589 single base substitution C G exon_variant LAML-KR 1 212277589 212277589 single base substitution C G intron_variant LICA-CN 1 212273878 212273878 single base substitution A C downstream_gene_variant LICA-CN 1 212273878 212273878 single base substitution A C exon_variant LICA-CN 1 212273878 212273878 single base substitution A C missense_variant T474P 1420A>C LICA-CN 1 212273878 212273878 single base substitution A C missense_variant T516P 1546A>C LICA-CN 1 212273878 212273878 single base substitution A C upstream_gene_variant LICA-FR 1 212205107 212205107 single base substitution G A upstream_gene_variant LICA-FR 1 212207182 212207182 single base substitution T A upstream_gene_variant LICA-FR 1 212222154 212222154 insertion of <=200bp - AA intron_variant LICA-FR 1 212236658 212236658 single base substitution G A intron_variant LICA-FR 1 212248562 212248562 single base substitution C T intron_variant LICA-FR 1 212254107 212254107 single base substitution T A intron_variant LICA-FR 1 212260233 212260233 single base substitution G T intron_variant LICA-FR 1 212269888 212269888 single base substitution A G intron_variant LICA-FR 1 212269888 212269888 single base substitution A G upstream_gene_variant LICA-FR 1 212274589 212274589 single base substitution C T downstream_gene_variant LICA-FR 1 212274589 212274589 single base substitution C T intron_variant LICA-FR 1 212280505 212280505 insertion of <=200bp - AA downstream_gene_variant LICA-FR 1 212280505 212280505 insertion of <=200bp - AA intron_variant LICA-FR 1 212280525 212280525 single base substitution A T downstream_gene_variant LICA-FR 1 212280525 212280525 single base substitution A T intron_variant LIHC-US 1 212238257 212238257 single base substitution A G splice_acceptor_variant LINC-JP 1 212205608 212205608 single base substitution T C upstream_gene_variant LINC-JP 1 212205943 212205943 single base substitution C T upstream_gene_variant LINC-JP 1 212208872 212208872 single base substitution T C upstream_gene_variant LINC-JP 1 212236248 212236248 single base substitution A G exon_variant LINC-JP 1 212236248 212236248 single base substitution A G synonymous_variant R119R 357A>G LINC-JP 1 212236248 212236248 single base substitution A G synonymous_variant R161R 483A>G LINC-JP 1 212241510 212241510 single base substitution A G intron_variant LINC-JP 1 212241510 212241510 single base substitution A G upstream_gene_variant LINC-JP 1 212242110 212242110 single base substitution A G intron_variant LINC-JP 1 212242110 212242110 single base substitution A G upstream_gene_variant LINC-JP 1 212259845 212259845 single base substitution A G intron_variant LINC-JP 1 212261125 212261125 single base substitution G A intron_variant LINC-JP 1 212274161 212274161 single base substitution A G downstream_gene_variant LINC-JP 1 212274161 212274161 single base substitution A G exon_variant LINC-JP 1 212274161 212274161 single base substitution A G missense_variant K568R 1703A>G LINC-JP 1 212274161 212274161 single base substitution A G missense_variant K610R 1829A>G LINC-JP 1 212274518 212274518 single base substitution A T downstream_gene_variant LINC-JP 1 212274518 212274518 single base substitution A T intron_variant LINC-JP 1 212281714 212281714 single base substitution G A downstream_gene_variant LIRI-JP 1 212204741 212204741 single base substitution T C upstream_gene_variant LIRI-JP 1 212207722 212207722 single base substitution T C upstream_gene_variant LIRI-JP 1 212208849 212208849 single base substitution C T upstream_gene_variant LIRI-JP 1 212209689 212209689 single base substitution G A intron_variant LIRI-JP 1 212213550 212213550 single base substitution C A intron_variant LIRI-JP 1 212214684 212214684 single base substitution C A intron_variant LIRI-JP 1 212216250 212216250 single base substitution A C intron_variant LIRI-JP 1 212216670 212216670 single base substitution G A intron_variant LIRI-JP 1 212216717 212216717 single base substitution G A intron_variant LIRI-JP 1 212219212 212219212 single base substitution A G intron_variant LIRI-JP 1 212220899 212220899 single base substitution C A intron_variant LIRI-JP 1 212225098 212225098 single base substitution A G intron_variant LIRI-JP 1 212228178 212228178 single base substitution G T intron_variant LIRI-JP 1 212231056 212231056 single base substitution G T intron_variant LIRI-JP 1 212232286 212232286 single base substitution A G intron_variant LIRI-JP 1 212232996 212232996 single base substitution A G intron_variant LIRI-JP 1 212238689 212238689 deletion of <=200bp G - intron_variant LIRI-JP 1 212239238 212239238 single base substitution G A intron_variant LIRI-JP 1 212243537 212243537 single base substitution C G intron_variant LIRI-JP 1 212243537 212243537 single base substitution C G upstream_gene_variant LIRI-JP 1 212247768 212247768 single base substitution C A intron_variant LIRI-JP 1 212248238 212248238 single base substitution A G intron_variant LIRI-JP 1 212248332 212248332 single base substitution C G intron_variant LIRI-JP 1 212248813 212248813 single base substitution C T intron_variant LIRI-JP 1 212248813 212248813 single base substitution C T upstream_gene_variant LIRI-JP 1 212251686 212251686 single base substitution T A intron_variant LIRI-JP 1 212251686 212251686 single base substitution T A upstream_gene_variant LIRI-JP 1 212252086 212252086 single base substitution A G intron_variant LIRI-JP 1 212252086 212252086 single base substitution A G upstream_gene_variant LIRI-JP 1 212256577 212256577 single base substitution A G intron_variant LIRI-JP 1 212273000 212273000 single base substitution A T intron_variant LIRI-JP 1 212273000 212273000 single base substitution A T upstream_gene_variant LIRI-JP 1 212275114 212275114 single base substitution T C downstream_gene_variant LIRI-JP 1 212275114 212275114 single base substitution T C intron_variant LIRI-JP 1 212276703 212276703 single base substitution C T 3_prime_UTR_variant LIRI-JP 1 212276703 212276703 single base substitution C T downstream_gene_variant LIRI-JP 1 212276703 212276703 single base substitution C T exon_variant LIRI-JP 1 212276703 212276703 single base substitution C T intron_variant LIRI-JP 1 212280458 212280458 single base substitution G C downstream_gene_variant LIRI-JP 1 212280458 212280458 single base substitution G C intron_variant LIRI-JP 1 212282328 212282328 single base substitution C A downstream_gene_variant LIRI-JP 1 212283412 212283412 single base substitution G A downstream_gene_variant LUSC-KR 1 212204912 212204912 single base substitution G A upstream_gene_variant LUSC-KR 1 212217006 212217006 single base substitution A G intron_variant LUSC-KR 1 212222518 212222518 single base substitution G T intron_variant LUSC-KR 1 212224939 212224939 single base substitution T A intron_variant LUSC-KR 1 212224939 212224939 single base substitution T G intron_variant LUSC-KR 1 212225069 212225069 single base substitution C T intron_variant LUSC-KR 1 212226586 212226586 single base substitution A T intron_variant LUSC-KR 1 212227496 212227496 single base substitution C T intron_variant LUSC-KR 1 212228672 212228672 single base substitution G A intron_variant LUSC-KR 1 212230409 212230409 single base substitution A C intron_variant LUSC-KR 1 212230528 212230528 single base substitution T C intron_variant LUSC-KR 1 212236741 212236741 single base substitution C G intron_variant LUSC-KR 1 212238642 212238642 single base substitution G T intron_variant LUSC-KR 1 212238655 212238655 single base substitution A G intron_variant LUSC-KR 1 212239311 212239311 single base substitution G T intron_variant LUSC-KR 1 212247779 212247779 single base substitution A T intron_variant LUSC-KR 1 212249681 212249681 single base substitution C T intron_variant LUSC-KR 1 212249681 212249681 single base substitution C T upstream_gene_variant LUSC-KR 1 212251561 212251561 single base substitution A C exon_variant LUSC-KR 1 212251561 212251561 single base substitution A C missense_variant Q319P 956A>C LUSC-KR 1 212251561 212251561 single base substitution A C missense_variant Q361P 1082A>C LUSC-KR 1 212251561 212251561 single base substitution A C upstream_gene_variant LUSC-KR 1 212255598 212255598 single base substitution T A intron_variant LUSC-KR 1 212257224 212257224 single base substitution T C intron_variant LUSC-KR 1 212265279 212265279 single base substitution C T intron_variant LUSC-KR 1 212277589 212277589 single base substitution C G 3_prime_UTR_variant LUSC-KR 1 212277589 212277589 single base substitution C G downstream_gene_variant LUSC-KR 1 212277589 212277589 single base substitution C G exon_variant LUSC-KR 1 212277589 212277589 single base substitution C G intron_variant LUSC-KR 1 212279293 212279293 single base substitution G C downstream_gene_variant LUSC-KR 1 212279293 212279293 single base substitution G C intron_variant LUSC-KR 1 212279486 212279486 single base substitution A T downstream_gene_variant LUSC-KR 1 212279486 212279486 single base substitution A T intron_variant LUSC-US 1 212220693 212220693 single base substitution C A exon_variant LUSC-US 1 212220693 212220693 single base substitution C A missense_variant L132M 394C>A LUSC-US 1 212220693 212220693 single base substitution C A missense_variant L90M 268C>A LUSC-US 1 212273761 212273761 single base substitution C T exon_variant LUSC-US 1 212273761 212273761 single base substitution C T missense_variant R435W 1303C>T LUSC-US 1 212273761 212273761 single base substitution C T missense_variant R477W 1429C>T LUSC-US 1 212273761 212273761 single base substitution C T upstream_gene_variant LUSC-US 1 212273994 212273994 single base substitution G C downstream_gene_variant LUSC-US 1 212273994 212273994 single base substitution G C exon_variant LUSC-US 1 212273994 212273994 single base substitution G C missense_variant R512S 1536G>C LUSC-US 1 212273994 212273994 single base substitution G C missense_variant R554S 1662G>C MALY-DE 1 212208527 212208527 single base substitution G A upstream_gene_variant MALY-DE 1 212209670 212209670 single base substitution T A intron_variant MALY-DE 1 212209710 212209710 single base substitution A T intron_variant MALY-DE 1 212209756 212209756 single base substitution A T intron_variant MALY-DE 1 212214404 212214404 single base substitution T C intron_variant MALY-DE 1 212223256 212223256 single base substitution C T intron_variant MALY-DE 1 212235488 212235488 single base substitution A T intron_variant MALY-DE 1 212277589 212277589 insertion of <=200bp - CTGTGTAGACTTTATGTCAGTT 3_prime_UTR_variant MALY-DE 1 212277589 212277589 insertion of <=200bp - CTGTGTAGACTTTATGTCAGTT downstream_gene_variant MALY-DE 1 212277589 212277589 insertion of <=200bp - CTGTGTAGACTTTATGTCAGTT exon_variant MALY-DE 1 212277589 212277589 insertion of <=200bp - CTGTGTAGACTTTATGTCAGTT intron_variant MALY-DE 1 212282990 212282990 single base substitution T C downstream_gene_variant MALY-DE 1 212284430 212284430 single base substitution T G downstream_gene_variant MALY-DE 1 212284464 212284464 single base substitution T A downstream_gene_variant MELA-AU 1 212204556 212204556 single base substitution T G upstream_gene_variant MELA-AU 1 212205701 212205701 single base substitution G A upstream_gene_variant MELA-AU 1 212205743 212205743 single base substitution G A upstream_gene_variant MELA-AU 1 212206366 212206366 single base substitution G A upstream_gene_variant MELA-AU 1 212206878 212206878 single base substitution G A upstream_gene_variant MELA-AU 1 212206975 212206975 single base substitution C T upstream_gene_variant MELA-AU 1 212207289 212207289 single base substitution G A upstream_gene_variant MELA-AU 1 212207319 212207319 single base substitution G A upstream_gene_variant MELA-AU 1 212207570 212207571 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 212208973 212208973 single base substitution G A 5_prime_UTR_variant MELA-AU 1 212208973 212208973 single base substitution G A upstream_gene_variant MELA-AU 1 212209003 212209003 single base substitution G A 5_prime_UTR_variant MELA-AU 1 212209003 212209003 single base substitution G A upstream_gene_variant MELA-AU 1 212209023 212209023 single base substitution G A 5_prime_UTR_variant MELA-AU 1 212209023 212209023 single base substitution G A upstream_gene_variant MELA-AU 1 212209070 212209070 single base substitution G A 5_prime_UTR_variant MELA-AU 1 212209070 212209070 single base substitution G A upstream_gene_variant MELA-AU 1 212209085 212209085 single base substitution G A 5_prime_UTR_variant MELA-AU 1 212209085 212209085 single base substitution G A upstream_gene_variant MELA-AU 1 212209371 212209371 single base substitution A G intron_variant MELA-AU 1 212209630 212209631 multiple base substitution (>=2bp and <=200bp) CT TG intron_variant MELA-AU 1 212209789 212209789 single base substitution C T intron_variant MELA-AU 1 212210739 212210739 single base substitution C T intron_variant MELA-AU 1 212211109 212211109 single base substitution G A intron_variant MELA-AU 1 212211507 212211507 single base substitution C T intron_variant MELA-AU 1 212211518 212211518 single base substitution C T intron_variant MELA-AU 1 212212517 212212517 single base substitution G A intron_variant MELA-AU 1 212212572 212212572 single base substitution C T intron_variant MELA-AU 1 212215291 212215291 single base substitution C T intron_variant MELA-AU 1 212216333 212216333 single base substitution A G intron_variant MELA-AU 1 212216333 212216333 single base substitution A G splice_acceptor_variant MELA-AU 1 212216443 212216443 single base substitution G A intron_variant MELA-AU 1 212216443 212216443 single base substitution G A missense_variant G54E 161G>A MELA-AU 1 212216619 212216619 single base substitution T A intron_variant MELA-AU 1 212216789 212216789 single base substitution T C intron_variant MELA-AU 1 212216856 212216856 single base substitution C T intron_variant MELA-AU 1 212216920 212216920 single base substitution C T intron_variant MELA-AU 1 212216930 212216930 single base substitution G A intron_variant MELA-AU 1 212217012 212217012 single base substitution A T intron_variant MELA-AU 1 212217109 212217109 single base substitution T C intron_variant MELA-AU 1 212217208 212217208 single base substitution C T intron_variant MELA-AU 1 212217261 212217261 single base substitution C T intron_variant MELA-AU 1 212217313 212217313 single base substitution C T intron_variant MELA-AU 1 212218618 212218618 single base substitution G A intron_variant MELA-AU 1 212218748 212218748 single base substitution T A intron_variant MELA-AU 1 212218756 212218756 single base substitution T C intron_variant MELA-AU 1 212218845 212218845 single base substitution G A intron_variant MELA-AU 1 212219767 212219767 single base substitution C T intron_variant MELA-AU 1 212219795 212219795 single base substitution C T intron_variant MELA-AU 1 212220844 212220844 single base substitution C T intron_variant MELA-AU 1 212220974 212220974 single base substitution T C intron_variant MELA-AU 1 212221559 212221559 single base substitution G A intron_variant MELA-AU 1 212222144 212222144 single base substitution C T intron_variant MELA-AU 1 212223418 212223418 single base substitution T G intron_variant MELA-AU 1 212223818 212223818 single base substitution C T intron_variant MELA-AU 1 212225377 212225377 single base substitution C T intron_variant MELA-AU 1 212225523 212225523 single base substitution C T intron_variant MELA-AU 1 212225646 212225646 single base substitution C T intron_variant MELA-AU 1 212225741 212225741 single base substitution G A intron_variant MELA-AU 1 212225911 212225911 single base substitution G A intron_variant MELA-AU 1 212227570 212227570 single base substitution C T intron_variant MELA-AU 1 212227933 212227933 single base substitution C T intron_variant MELA-AU 1 212228021 212228021 single base substitution C T intron_variant MELA-AU 1 212228091 212228091 single base substitution C T intron_variant MELA-AU 1 212228122 212228122 single base substitution G A intron_variant MELA-AU 1 212228286 212228286 single base substitution A G intron_variant MELA-AU 1 212228600 212228600 single base substitution C T intron_variant MELA-AU 1 212228801 212228801 single base substitution G C intron_variant MELA-AU 1 212229211 212229211 single base substitution A G intron_variant MELA-AU 1 212229503 212229503 single base substitution C T intron_variant MELA-AU 1 212229694 212229694 single base substitution C T intron_variant MELA-AU 1 212230528 212230528 single base substitution T C intron_variant MELA-AU 1 212230689 212230689 single base substitution C A intron_variant MELA-AU 1 212231251 212231251 single base substitution C T intron_variant MELA-AU 1 212231368 212231368 single base substitution C T intron_variant MELA-AU 1 212231448 212231449 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 212231725 212231725 single base substitution G A intron_variant MELA-AU 1 212232306 212232306 single base substitution C T intron_variant MELA-AU 1 212232388 212232388 single base substitution C T intron_variant MELA-AU 1 212232628 212232636 deletion of <=200bp GAATTCAAC - intron_variant MELA-AU 1 212232817 212232817 single base substitution C T intron_variant MELA-AU 1 212232982 212232982 single base substitution C T intron_variant MELA-AU 1 212233073 212233073 single base substitution C T intron_variant MELA-AU 1 212233117 212233117 single base substitution T A intron_variant MELA-AU 1 212233348 212233348 single base substitution C T intron_variant MELA-AU 1 212233623 212233623 single base substitution G A intron_variant MELA-AU 1 212233661 212233661 single base substitution C T intron_variant MELA-AU 1 212234970 212234970 single base substitution G A intron_variant MELA-AU 1 212235112 212235112 single base substitution C T intron_variant MELA-AU 1 212235120 212235120 single base substitution C T intron_variant MELA-AU 1 212235488 212235488 single base substitution A T intron_variant MELA-AU 1 212236062 212236062 single base substitution C T intron_variant MELA-AU 1 212236644 212236644 single base substitution T A intron_variant MELA-AU 1 212236719 212236719 single base substitution C T intron_variant MELA-AU 1 212237018 212237018 single base substitution C T intron_variant MELA-AU 1 212238860 212238860 single base substitution T A intron_variant MELA-AU 1 212239502 212239502 single base substitution C T intron_variant MELA-AU 1 212240573 212240573 single base substitution C T intron_variant MELA-AU 1 212240573 212240573 single base substitution C T upstream_gene_variant MELA-AU 1 212241367 212241367 single base substitution C T intron_variant MELA-AU 1 212241367 212241367 single base substitution C T upstream_gene_variant MELA-AU 1 212241493 212241493 single base substitution C A intron_variant MELA-AU 1 212241493 212241493 single base substitution C A upstream_gene_variant MELA-AU 1 212241739 212241739 single base substitution C T intron_variant MELA-AU 1 212241739 212241739 single base substitution C T upstream_gene_variant MELA-AU 1 212242669 212242669 single base substitution T C intron_variant MELA-AU 1 212242669 212242669 single base substitution T C upstream_gene_variant MELA-AU 1 212242770 212242770 single base substitution C T intron_variant MELA-AU 1 212242770 212242770 single base substitution C T upstream_gene_variant MELA-AU 1 212242771 212242771 single base substitution C T intron_variant MELA-AU 1 212242771 212242771 single base substitution C T upstream_gene_variant MELA-AU 1 212243180 212243180 single base substitution C T intron_variant MELA-AU 1 212243180 212243180 single base substitution C T upstream_gene_variant MELA-AU 1 212243445 212243445 single base substitution C T intron_variant MELA-AU 1 212243445 212243445 single base substitution C T upstream_gene_variant MELA-AU 1 212243660 212243660 single base substitution T A intron_variant MELA-AU 1 212243660 212243660 single base substitution T A upstream_gene_variant MELA-AU 1 212243879 212243879 single base substitution G A intron_variant MELA-AU 1 212243879 212243879 single base substitution G A upstream_gene_variant MELA-AU 1 212244568 212244568 single base substitution C T intron_variant MELA-AU 1 212244568 212244568 single base substitution C T upstream_gene_variant MELA-AU 1 212245002 212245002 single base substitution G A intron_variant MELA-AU 1 212245002 212245002 single base substitution G A upstream_gene_variant MELA-AU 1 212245204 212245204 single base substitution C T intron_variant MELA-AU 1 212245204 212245204 single base substitution C T upstream_gene_variant MELA-AU 1 212245211 212245211 single base substitution C T intron_variant MELA-AU 1 212245211 212245211 single base substitution C T upstream_gene_variant MELA-AU 1 212245834 212245834 single base substitution T C intron_variant MELA-AU 1 212246197 212246197 single base substitution C T intron_variant MELA-AU 1 212249200 212249200 single base substitution C T intron_variant MELA-AU 1 212249200 212249200 single base substitution C T upstream_gene_variant MELA-AU 1 212249202 212249202 single base substitution T C intron_variant MELA-AU 1 212249202 212249202 single base substitution T C upstream_gene_variant MELA-AU 1 212249227 212249227 single base substitution T C intron_variant MELA-AU 1 212249227 212249227 single base substitution T C upstream_gene_variant MELA-AU 1 212249986 212249986 single base substitution C T intron_variant MELA-AU 1 212249986 212249986 single base substitution C T upstream_gene_variant MELA-AU 1 212251830 212251830 single base substitution C T intron_variant MELA-AU 1 212251830 212251830 single base substitution C T upstream_gene_variant MELA-AU 1 212251894 212251894 single base substitution A G intron_variant MELA-AU 1 212251894 212251894 single base substitution A G upstream_gene_variant MELA-AU 1 212253023 212253023 single base substitution A G intron_variant MELA-AU 1 212253023 212253023 single base substitution A G upstream_gene_variant MELA-AU 1 212253527 212253527 single base substitution C T intron_variant MELA-AU 1 212253527 212253527 single base substitution C T upstream_gene_variant MELA-AU 1 212254167 212254167 single base substitution G A intron_variant MELA-AU 1 212255195 212255195 single base substitution C T intron_variant MELA-AU 1 212256389 212256389 single base substitution G A intron_variant MELA-AU 1 212256682 212256682 single base substitution C T intron_variant MELA-AU 1 212256991 212256991 single base substitution A G intron_variant MELA-AU 1 212257479 212257479 single base substitution C T intron_variant MELA-AU 1 212257555 212257555 single base substitution T G intron_variant MELA-AU 1 212258311 212258311 single base substitution C T intron_variant MELA-AU 1 212258728 212258728 single base substitution C T intron_variant MELA-AU 1 212258892 212258892 single base substitution C T intron_variant MELA-AU 1 212259598 212259598 single base substitution C T intron_variant MELA-AU 1 212259766 212259766 single base substitution C T intron_variant MELA-AU 1 212260165 212260165 single base substitution C T intron_variant MELA-AU 1 212260270 212260270 single base substitution C T intron_variant MELA-AU 1 212260436 212260436 single base substitution C T intron_variant MELA-AU 1 212260864 212260864 single base substitution C T intron_variant MELA-AU 1 212260878 212260878 single base substitution C G intron_variant MELA-AU 1 212261204 212261204 single base substitution C T intron_variant MELA-AU 1 212261710 212261710 single base substitution C T intron_variant MELA-AU 1 212262466 212262466 single base substitution C T intron_variant MELA-AU 1 212262801 212262801 single base substitution C T intron_variant MELA-AU 1 212263194 212263194 single base substitution C T intron_variant MELA-AU 1 212263737 212263737 single base substitution C T intron_variant MELA-AU 1 212265401 212265401 single base substitution C T intron_variant MELA-AU 1 212265445 212265445 single base substitution T C intron_variant MELA-AU 1 212265471 212265471 single base substitution C T intron_variant MELA-AU 1 212265914 212265914 single base substitution G A intron_variant MELA-AU 1 212266108 212266108 single base substitution C T intron_variant MELA-AU 1 212266483 212266483 single base substitution C T intron_variant MELA-AU 1 212266870 212266870 single base substitution C T intron_variant MELA-AU 1 212267245 212267245 single base substitution C T intron_variant MELA-AU 1 212268069 212268069 single base substitution C T intron_variant MELA-AU 1 212268116 212268116 single base substitution C T intron_variant MELA-AU 1 212268512 212268512 single base substitution C T intron_variant MELA-AU 1 212268703 212268703 single base substitution C T intron_variant MELA-AU 1 212269052 212269052 single base substitution C T intron_variant MELA-AU 1 212269052 212269052 single base substitution C T upstream_gene_variant MELA-AU 1 212269999 212269999 single base substitution G A intron_variant MELA-AU 1 212269999 212269999 single base substitution G A upstream_gene_variant MELA-AU 1 212270018 212270018 single base substitution G A intron_variant MELA-AU 1 212270018 212270018 single base substitution G A upstream_gene_variant MELA-AU 1 212270089 212270089 single base substitution T G intron_variant MELA-AU 1 212270089 212270089 single base substitution T G upstream_gene_variant MELA-AU 1 212270350 212270350 single base substitution A T intron_variant MELA-AU 1 212270350 212270350 single base substitution A T upstream_gene_variant MELA-AU 1 212271002 212271002 single base substitution C T intron_variant MELA-AU 1 212271002 212271002 single base substitution C T upstream_gene_variant MELA-AU 1 212271091 212271091 single base substitution C T intron_variant MELA-AU 1 212271091 212271091 single base substitution C T upstream_gene_variant MELA-AU 1 212271180 212271180 single base substitution C T intron_variant MELA-AU 1 212271180 212271180 single base substitution C T upstream_gene_variant MELA-AU 1 212271289 212271289 single base substitution G A intron_variant MELA-AU 1 212271289 212271289 single base substitution G A upstream_gene_variant MELA-AU 1 212271643 212271643 single base substitution C A intron_variant MELA-AU 1 212271643 212271643 single base substitution C A upstream_gene_variant MELA-AU 1 212272841 212272841 single base substitution G A intron_variant MELA-AU 1 212272841 212272841 single base substitution G A upstream_gene_variant MELA-AU 1 212272988 212272988 single base substitution C T intron_variant MELA-AU 1 212272988 212272988 single base substitution C T upstream_gene_variant MELA-AU 1 212273669 212273669 single base substitution C A exon_variant MELA-AU 1 212273669 212273669 single base substitution C A stop_gained S404* 1211C>A MELA-AU 1 212273669 212273669 single base substitution C A stop_gained S446* 1337C>A MELA-AU 1 212273669 212273669 single base substitution C A upstream_gene_variant MELA-AU 1 212274233 212274233 single base substitution G A downstream_gene_variant MELA-AU 1 212274233 212274233 single base substitution G A exon_variant MELA-AU 1 212274233 212274233 single base substitution G A missense_variant G592E 1775G>A MELA-AU 1 212274233 212274233 single base substitution G A missense_variant G634E 1901G>A MELA-AU 1 212274847 212274847 single base substitution C A downstream_gene_variant MELA-AU 1 212274847 212274847 single base substitution C A intron_variant MELA-AU 1 212274962 212274962 single base substitution T A downstream_gene_variant MELA-AU 1 212274962 212274962 single base substitution T A intron_variant MELA-AU 1 212275034 212275034 single base substitution A G downstream_gene_variant MELA-AU 1 212275034 212275034 single base substitution A G intron_variant MELA-AU 1 212275073 212275073 single base substitution C T downstream_gene_variant MELA-AU 1 212275073 212275073 single base substitution C T intron_variant MELA-AU 1 212275384 212275384 single base substitution G A downstream_gene_variant MELA-AU 1 212275384 212275384 single base substitution G A intron_variant MELA-AU 1 212275533 212275533 single base substitution C T downstream_gene_variant MELA-AU 1 212275533 212275533 single base substitution C T intron_variant MELA-AU 1 212276260 212276260 single base substitution C T downstream_gene_variant MELA-AU 1 212276260 212276260 single base substitution C T exon_variant MELA-AU 1 212276260 212276260 single base substitution C T intron_variant MELA-AU 1 212276260 212276260 single base substitution C T missense_variant P682L 2045C>T MELA-AU 1 212276260 212276260 single base substitution C T missense_variant P724L 2171C>T MELA-AU 1 212276413 212276413 single base substitution T A 3_prime_UTR_variant MELA-AU 1 212276413 212276413 single base substitution T A downstream_gene_variant MELA-AU 1 212276413 212276413 single base substitution T A exon_variant MELA-AU 1 212276413 212276413 single base substitution T A intron_variant MELA-AU 1 212276441 212276441 single base substitution T A 3_prime_UTR_variant MELA-AU 1 212276441 212276441 single base substitution T A downstream_gene_variant MELA-AU 1 212276441 212276441 single base substitution T A exon_variant MELA-AU 1 212276441 212276441 single base substitution T A intron_variant MELA-AU 1 212277347 212277347 single base substitution C T 3_prime_UTR_variant MELA-AU 1 212277347 212277347 single base substitution C T downstream_gene_variant MELA-AU 1 212277347 212277347 single base substitution C T exon_variant MELA-AU 1 212277347 212277347 single base substitution C T intron_variant MELA-AU 1 212277417 212277417 single base substitution C T 3_prime_UTR_variant MELA-AU 1 212277417 212277417 single base substitution C T downstream_gene_variant MELA-AU 1 212277417 212277417 single base substitution C T exon_variant MELA-AU 1 212277417 212277417 single base substitution C T intron_variant MELA-AU 1 212278449 212278449 single base substitution C T downstream_gene_variant MELA-AU 1 212278449 212278449 single base substitution C T intron_variant MELA-AU 1 212278820 212278820 single base substitution C T downstream_gene_variant MELA-AU 1 212278820 212278820 single base substitution C T intron_variant MELA-AU 1 212279759 212279759 single base substitution G A downstream_gene_variant MELA-AU 1 212279759 212279759 single base substitution G A intron_variant MELA-AU 1 212279851 212279851 single base substitution C T downstream_gene_variant MELA-AU 1 212279851 212279851 single base substitution C T intron_variant MELA-AU 1 212280118 212280118 single base substitution C T downstream_gene_variant MELA-AU 1 212280118 212280118 single base substitution C T intron_variant MELA-AU 1 212280177 212280177 single base substitution C T downstream_gene_variant MELA-AU 1 212280177 212280177 single base substitution C T intron_variant MELA-AU 1 212280881 212280881 single base substitution G A downstream_gene_variant MELA-AU 1 212280990 212280991 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 212282518 212282518 single base substitution C T downstream_gene_variant MELA-AU 1 212283299 212283299 single base substitution C T downstream_gene_variant MELA-AU 1 212284345 212284345 single base substitution G A downstream_gene_variant MELA-AU 1 212285207 212285207 single base substitution G A downstream_gene_variant MELA-AU 1 212285596 212285596 single base substitution C T downstream_gene_variant MELA-AU 1 212285638 212285638 single base substitution A T downstream_gene_variant MELA-AU 1 212285680 212285681 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant ORCA-IN 1 212217849 212217849 single base substitution G A intron_variant ORCA-IN 1 212245521 212245521 single base substitution G T exon_variant ORCA-IN 1 212245521 212245521 single base substitution G T missense_variant S292I 875G>T ORCA-IN 1 212245521 212245521 single base substitution G T missense_variant S334I 1001G>T ORCA-IN 1 212250497 212250497 single base substitution G T intron_variant ORCA-IN 1 212250497 212250497 single base substitution G T upstream_gene_variant ORCA-IN 1 212283999 212283999 single base substitution G T downstream_gene_variant OV-AU 1 212205049 212205049 single base substitution A G upstream_gene_variant OV-AU 1 212207270 212207270 single base substitution C T upstream_gene_variant OV-AU 1 212208646 212208646 single base substitution C G upstream_gene_variant OV-AU 1 212216089 212216089 single base substitution G A intron_variant OV-AU 1 212217362 212217362 single base substitution C T intron_variant OV-AU 1 212218283 212218283 single base substitution G A intron_variant OV-AU 1 212245212 212245212 single base substitution G A intron_variant OV-AU 1 212245212 212245212 single base substitution G A upstream_gene_variant OV-AU 1 212255434 212255434 single base substitution A G intron_variant OV-AU 1 212268405 212268405 single base substitution C T intron_variant OV-AU 1 212272940 212272940 single base substitution G A intron_variant OV-AU 1 212272940 212272940 single base substitution G A upstream_gene_variant OV-AU 1 212274237 212274237 single base substitution G A downstream_gene_variant OV-AU 1 212274237 212274237 single base substitution G A exon_variant OV-AU 1 212274237 212274237 single base substitution G A synonymous_variant T593T 1779G>A OV-AU 1 212274237 212274237 single base substitution G A synonymous_variant T635T 1905G>A OV-AU 1 212277275 212277275 single base substitution T A 3_prime_UTR_variant OV-AU 1 212277275 212277275 single base substitution T A downstream_gene_variant OV-AU 1 212277275 212277275 single base substitution T A exon_variant OV-AU 1 212277275 212277275 single base substitution T A intron_variant PACA-AU 1 212206884 212206884 single base substitution T C upstream_gene_variant PACA-AU 1 212214303 212214303 single base substitution C T intron_variant PACA-AU 1 212222245 212222248 deletion of <=200bp TTTG - intron_variant PACA-AU 1 212226284 212226284 single base substitution C A intron_variant PACA-AU 1 212231940 212231940 single base substitution G T intron_variant PACA-AU 1 212231966 212231966 single base substitution G A intron_variant PACA-AU 1 212236641 212236641 single base substitution T A intron_variant PACA-AU 1 212236912 212236912 single base substitution C T intron_variant PACA-AU 1 212248849 212248849 single base substitution C T intron_variant PACA-AU 1 212248849 212248849 single base substitution C T upstream_gene_variant PACA-AU 1 212260159 212260159 deletion of <=200bp T - intron_variant PACA-AU 1 212268569 212268569 single base substitution G T intron_variant PACA-AU 1 212274611 212274611 single base substitution T G downstream_gene_variant PACA-AU 1 212274611 212274611 single base substitution T G intron_variant PACA-AU 1 212275963 212275963 single base substitution A G downstream_gene_variant PACA-AU 1 212275963 212275963 single base substitution A G intron_variant PACA-CA 1 212210896 212210896 single base substitution G T intron_variant PACA-CA 1 212215034 212215034 single base substitution A G intron_variant PACA-CA 1 212220720 212220720 single base substitution T C exon_variant PACA-CA 1 212220720 212220720 single base substitution T C missense_variant C141R 421T>C PACA-CA 1 212220720 212220720 single base substitution T C missense_variant C99R 295T>C PACA-CA 1 212221532 212221535 deletion of <=200bp TTTG - intron_variant PACA-CA 1 212225332 212225332 deletion of <=200bp C - intron_variant PACA-CA 1 212226620 212226620 deletion of <=200bp T - intron_variant PACA-CA 1 212232398 212232398 single base substitution A C intron_variant PACA-CA 1 212232869 212232869 single base substitution T C intron_variant PACA-CA 1 212233588 212233588 single base substitution A G intron_variant PACA-CA 1 212234221 212234221 single base substitution G T intron_variant PACA-CA 1 212241339 212241339 single base substitution C T intron_variant PACA-CA 1 212241339 212241339 single base substitution C T upstream_gene_variant PACA-CA 1 212241868 212241868 single base substitution T G intron_variant PACA-CA 1 212241868 212241868 single base substitution T G upstream_gene_variant PACA-CA 1 212246006 212246006 single base substitution T C intron_variant PACA-CA 1 212246306 212246306 single base substitution A G intron_variant PACA-CA 1 212252824 212252824 single base substitution G T intron_variant PACA-CA 1 212252824 212252824 single base substitution G T upstream_gene_variant PACA-CA 1 212253902 212253902 insertion of <=200bp - A exon_variant PACA-CA 1 212253902 212253902 insertion of <=200bp - A intron_variant PACA-CA 1 212253909 212253910 deletion of <=200bp GA - exon_variant PACA-CA 1 212253909 212253910 deletion of <=200bp GA - intron_variant PACA-CA 1 212256977 212256977 insertion of <=200bp - A intron_variant PACA-CA 1 212263643 212263643 insertion of <=200bp - A intron_variant PACA-CA 1 212264328 212264328 single base substitution T C intron_variant PACA-CA 1 212264831 212264831 single base substitution A G intron_variant PACA-CA 1 212267411 212267411 single base substitution A G intron_variant PACA-CA 1 212267607 212267607 single base substitution G T intron_variant PACA-CA 1 212268906 212268906 single base substitution G C intron_variant PACA-CA 1 212270144 212270144 single base substitution A G intron_variant PACA-CA 1 212270144 212270144 single base substitution A G upstream_gene_variant PACA-CA 1 212272103 212272103 single base substitution G T intron_variant PACA-CA 1 212272103 212272103 single base substitution G T upstream_gene_variant PACA-CA 1 212276792 212276792 single base substitution T G 3_prime_UTR_variant PACA-CA 1 212276792 212276792 single base substitution T G downstream_gene_variant PACA-CA 1 212276792 212276792 single base substitution T G exon_variant PACA-CA 1 212276792 212276792 single base substitution T G intron_variant PACA-CA 1 212279187 212279187 single base substitution T G downstream_gene_variant PACA-CA 1 212279187 212279187 single base substitution T G intron_variant PACA-CA 1 212281897 212281897 single base substitution A G downstream_gene_variant PAEN-AU 1 212234632 212234632 single base substitution C T intron_variant PAEN-IT 1 212267011 212267011 single base substitution G A intron_variant PAEN-IT 1 212269400 212269400 single base substitution G C intron_variant PAEN-IT 1 212269400 212269400 single base substitution G C upstream_gene_variant PBCA-DE 1 212232185 212232185 single base substitution G T intron_variant PBCA-DE 1 212237801 212237801 single base substitution C T intron_variant PBCA-DE 1 212239485 212239485 single base substitution T C intron_variant PBCA-DE 1 212255302 212255302 single base substitution G A intron_variant PBCA-DE 1 212256763 212256763 single base substitution A C intron_variant PBCA-DE 1 212259661 212259661 single base substitution C A intron_variant PBCA-DE 1 212261970 212261970 deletion of <=200bp G - intron_variant PBCA-DE 1 212276791 212276791 single base substitution G T 3_prime_UTR_variant PBCA-DE 1 212276791 212276791 single base substitution G T downstream_gene_variant PBCA-DE 1 212276791 212276791 single base substitution G T exon_variant PBCA-DE 1 212276791 212276791 single base substitution G T intron_variant PRAD-CA 1 212208816 212208816 single base substitution C A upstream_gene_variant PRAD-CA 1 212212131 212212131 single base substitution T G intron_variant PRAD-CA 1 212215278 212215278 single base substitution A C intron_variant PRAD-CA 1 212219694 212219694 single base substitution T C intron_variant PRAD-CA 1 212224202 212224202 single base substitution A G intron_variant PRAD-CA 1 212224439 212224439 single base substitution T C intron_variant PRAD-CA 1 212227320 212227320 single base substitution G T intron_variant PRAD-CA 1 212227918 212227918 single base substitution C T intron_variant PRAD-CA 1 212230057 212230057 single base substitution A G intron_variant PRAD-CA 1 212231378 212231378 single base substitution C A intron_variant PRAD-CA 1 212233364 212233364 single base substitution A G intron_variant PRAD-CA 1 212233488 212233488 single base substitution A G intron_variant PRAD-CA 1 212235200 212235200 single base substitution G T intron_variant PRAD-CA 1 212235435 212235435 single base substitution A C intron_variant PRAD-CA 1 212237999 212237999 single base substitution A G intron_variant PRAD-CA 1 212240257 212240257 single base substitution G A intron_variant PRAD-CA 1 212242803 212242803 single base substitution C T intron_variant PRAD-CA 1 212242803 212242803 single base substitution C T upstream_gene_variant PRAD-CA 1 212245648 212245648 single base substitution G A intron_variant PRAD-CA 1 212252307 212252307 single base substitution T C intron_variant PRAD-CA 1 212252307 212252307 single base substitution T C upstream_gene_variant PRAD-CA 1 212252667 212252667 single base substitution T C intron_variant PRAD-CA 1 212252667 212252667 single base substitution T C upstream_gene_variant PRAD-CA 1 212262301 212262301 single base substitution G A intron_variant PRAD-CA 1 212264640 212264640 single base substitution T G intron_variant PRAD-CA 1 212265245 212265245 single base substitution C T intron_variant PRAD-CA 1 212269707 212269707 single base substitution T A intron_variant PRAD-CA 1 212269707 212269707 single base substitution T A upstream_gene_variant PRAD-CA 1 212271852 212271852 single base substitution G A intron_variant PRAD-CA 1 212271852 212271852 single base substitution G A upstream_gene_variant PRAD-CA 1 212278001 212278001 single base substitution A G 3_prime_UTR_variant PRAD-CA 1 212278001 212278001 single base substitution A G downstream_gene_variant PRAD-CA 1 212278001 212278001 single base substitution A G intron_variant PRAD-CA 1 212278089 212278089 single base substitution T C 3_prime_UTR_variant PRAD-CA 1 212278089 212278089 single base substitution T C downstream_gene_variant PRAD-CA 1 212278089 212278089 single base substitution T C intron_variant PRAD-CA 1 212283347 212283347 single base substitution C T downstream_gene_variant PRAD-CA 1 212284779 212284779 single base substitution T A downstream_gene_variant PRAD-UK 1 212205119 212205119 deletion of <=200bp A - upstream_gene_variant PRAD-UK 1 212212605 212212605 single base substitution T C intron_variant PRAD-UK 1 212212645 212212645 single base substitution T G intron_variant PRAD-UK 1 212220638 212220638 single base substitution G T splice_acceptor_variant PRAD-UK 1 212230198 212230198 single base substitution T G intron_variant PRAD-UK 1 212276247 212276247 single base substitution G A downstream_gene_variant PRAD-UK 1 212276247 212276247 single base substitution G A exon_variant PRAD-UK 1 212276247 212276247 single base substitution G A intron_variant PRAD-UK 1 212276247 212276247 single base substitution G A missense_variant D678N 2032G>A PRAD-UK 1 212276247 212276247 single base substitution G A missense_variant D720N 2158G>A PRAD-US 1 212274088 212274088 single base substitution T C downstream_gene_variant PRAD-US 1 212274088 212274088 single base substitution T C exon_variant PRAD-US 1 212274088 212274088 single base substitution T C synonymous_variant L544L 1630T>C PRAD-US 1 212274088 212274088 single base substitution T C synonymous_variant L586L 1756T>C READ-US 1 212274086 212274086 single base substitution A G downstream_gene_variant READ-US 1 212274086 212274086 single base substitution A G exon_variant READ-US 1 212274086 212274086 single base substitution A G missense_variant H543R 1628A>G READ-US 1 212274086 212274086 single base substitution A G missense_variant H585R 1754A>G RECA-EU 1 212206781 212206781 single base substitution A T upstream_gene_variant RECA-EU 1 212210581 212210581 single base substitution A G intron_variant RECA-EU 1 212217009 212217009 single base substitution A G intron_variant RECA-EU 1 212217696 212217696 single base substitution C A intron_variant RECA-EU 1 212223598 212223598 single base substitution G C intron_variant RECA-EU 1 212231538 212231538 single base substitution C G intron_variant RECA-EU 1 212232451 212232451 single base substitution T C intron_variant RECA-EU 1 212238125 212238125 single base substitution A T intron_variant RECA-EU 1 212239538 212239538 single base substitution G C intron_variant RECA-EU 1 212250044 212250044 single base substitution A T intron_variant RECA-EU 1 212250044 212250044 single base substitution A T upstream_gene_variant RECA-EU 1 212257266 212257266 single base substitution A G intron_variant RECA-EU 1 212257437 212257437 single base substitution A T intron_variant RECA-EU 1 212263150 212263150 single base substitution G C intron_variant RECA-EU 1 212271947 212271947 single base substitution G C intron_variant RECA-EU 1 212271947 212271947 single base substitution G C upstream_gene_variant RECA-EU 1 212281921 212281921 single base substitution G C downstream_gene_variant SKCA-BR 1 212205882 212205882 single base substitution G A upstream_gene_variant SKCA-BR 1 212206366 212206366 single base substitution G A upstream_gene_variant SKCA-BR 1 212207564 212207564 single base substitution A G upstream_gene_variant SKCA-BR 1 212217054 212217054 single base substitution C T intron_variant SKCA-BR 1 212220905 212220905 single base substitution C T intron_variant SKCA-BR 1 212225437 212225437 single base substitution C T intron_variant SKCA-BR 1 212227050 212227050 single base substitution C T intron_variant SKCA-BR 1 212227051 212227051 single base substitution C T intron_variant SKCA-BR 1 212227464 212227464 single base substitution C T intron_variant SKCA-BR 1 212229488 212229488 single base substitution C T intron_variant SKCA-BR 1 212231004 212231004 single base substitution G A intron_variant SKCA-BR 1 212231538 212231538 single base substitution C T intron_variant SKCA-BR 1 212231539 212231539 single base substitution C T intron_variant SKCA-BR 1 212233121 212233129 deletion of <=200bp CAAAAAAAA - intron_variant SKCA-BR 1 212234076 212234077 deletion of <=200bp CA - intron_variant SKCA-BR 1 212234221 212234221 single base substitution G A intron_variant SKCA-BR 1 212240249 212240249 single base substitution C T intron_variant SKCA-BR 1 212241714 212241714 insertion of <=200bp - TAA intron_variant SKCA-BR 1 212241714 212241714 insertion of <=200bp - TAA upstream_gene_variant SKCA-BR 1 212252805 212252805 single base substitution C T intron_variant SKCA-BR 1 212252805 212252805 single base substitution C T upstream_gene_variant SKCA-BR 1 212257548 212257548 single base substitution C T intron_variant SKCA-BR 1 212260907 212260907 single base substitution C T intron_variant SKCA-BR 1 212264278 212264289 deletion of <=200bp GTTTGAGAGCCC - intron_variant SKCA-BR 1 212271267 212271267 single base substitution T G intron_variant SKCA-BR 1 212271267 212271267 single base substitution T G upstream_gene_variant SKCA-BR 1 212277588 212277588 insertion of <=200bp - ACTGTGTAGACTTTATGTCAGTT 3_prime_UTR_variant SKCA-BR 1 212277588 212277588 insertion of <=200bp - ACTGTGTAGACTTTATGTCAGTT downstream_gene_variant SKCA-BR 1 212277588 212277588 insertion of <=200bp - ACTGTGTAGACTTTATGTCAGTT exon_variant SKCA-BR 1 212277588 212277588 insertion of <=200bp - ACTGTGTAGACTTTATGTCAGTT intron_variant SKCA-BR 1 212278010 212278010 single base substitution A C 3_prime_UTR_variant SKCA-BR 1 212278010 212278010 single base substitution A C downstream_gene_variant SKCA-BR 1 212278010 212278010 single base substitution A C intron_variant SKCA-BR 1 212278277 212278277 single base substitution T C 3_prime_UTR_variant SKCA-BR 1 212278277 212278277 single base substitution T C downstream_gene_variant SKCA-BR 1 212278277 212278277 single base substitution T C intron_variant SKCM-US 1 212208753 212208753 single base substitution G A upstream_gene_variant SKCM-US 1 212216443 212216443 single base substitution G A intron_variant SKCM-US 1 212216443 212216443 single base substitution G A missense_variant G54E 161G>A SKCM-US 1 212273637 212273637 single base substitution G A exon_variant SKCM-US 1 212273637 212273637 single base substitution G A synonymous_variant R393R 1179G>A SKCM-US 1 212273637 212273637 single base substitution G A synonymous_variant R435R 1305G>A SKCM-US 1 212273637 212273637 single base substitution G A upstream_gene_variant SKCM-US 1 212273663 212273663 single base substitution C T exon_variant SKCM-US 1 212273663 212273663 single base substitution C T missense_variant S402F 1205C>T SKCM-US 1 212273663 212273663 single base substitution C T missense_variant S444F 1331C>T SKCM-US 1 212273663 212273663 single base substitution C T upstream_gene_variant SKCM-US 1 212273795 212273795 single base substitution C T downstream_gene_variant SKCM-US 1 212273795 212273795 single base substitution C T exon_variant SKCM-US 1 212273795 212273795 single base substitution C T missense_variant S446F 1337C>T SKCM-US 1 212273795 212273795 single base substitution C T missense_variant S488F 1463C>T SKCM-US 1 212273795 212273795 single base substitution C T upstream_gene_variant SKCM-US 1 212273810 212273810 single base substitution C T downstream_gene_variant SKCM-US 1 212273810 212273810 single base substitution C T exon_variant SKCM-US 1 212273810 212273810 single base substitution C T missense_variant P451L 1352C>T SKCM-US 1 212273810 212273810 single base substitution C T missense_variant P493L 1478C>T SKCM-US 1 212273810 212273810 single base substitution C T upstream_gene_variant SKCM-US 1 212273882 212273882 single base substitution C T downstream_gene_variant SKCM-US 1 212273882 212273882 single base substitution C T exon_variant SKCM-US 1 212273882 212273882 single base substitution C T missense_variant P475L 1424C>T SKCM-US 1 212273882 212273882 single base substitution C T missense_variant P517L 1550C>T SKCM-US 1 212273882 212273882 single base substitution C T upstream_gene_variant SKCM-US 1 212274335 212274335 single base substitution C T downstream_gene_variant SKCM-US 1 212274335 212274335 single base substitution C T exon_variant SKCM-US 1 212274335 212274335 single base substitution C T missense_variant A626V 1877C>T SKCM-US 1 212274335 212274335 single base substitution C T missense_variant A668V 2003C>T SKCM-US 1 212274371 212274371 single base substitution C T downstream_gene_variant SKCM-US 1 212274371 212274371 single base substitution C T exon_variant SKCM-US 1 212274371 212274371 single base substitution C T missense_variant P638L 1913C>T SKCM-US 1 212274371 212274371 single base substitution C T missense_variant P680L 2039C>T SKCM-US 1 212276201 212276201 single base substitution C T downstream_gene_variant SKCM-US 1 212276201 212276201 single base substitution C T exon_variant SKCM-US 1 212276201 212276201 single base substitution C T intron_variant SKCM-US 1 212276201 212276201 single base substitution C T synonymous_variant S662S 1986C>T SKCM-US 1 212276201 212276201 single base substitution C T synonymous_variant S704S 2112C>T STAD-US 1 212220516 212220516 single base substitution G A exon_variant STAD-US 1 212220516 212220516 single base substitution G A missense_variant V101I 301G>A STAD-US 1 212220516 212220516 single base substitution G A missense_variant V59I 175G>A STAD-US 1 212238293 212238293 single base substitution A G exon_variant STAD-US 1 212238293 212238293 single base substitution A G synonymous_variant G145G 435A>G STAD-US 1 212238293 212238293 single base substitution A G synonymous_variant G187G 561A>G STAD-US 1 212254037 212254037 single base substitution A G exon_variant STAD-US 1 212254037 212254037 single base substitution A G synonymous_variant K360K 1080A>G STAD-US 1 212254037 212254037 single base substitution A G synonymous_variant K402K 1206A>G STAD-US 1 212273797 212273797 single base substitution G A downstream_gene_variant STAD-US 1 212273797 212273797 single base substitution G A exon_variant STAD-US 1 212273797 212273797 single base substitution G A missense_variant V447I 1339G>A STAD-US 1 212273797 212273797 single base substitution G A missense_variant V489I 1465G>A STAD-US 1 212273797 212273797 single base substitution G A upstream_gene_variant STAD-US 1 212273912 212273912 single base substitution C T downstream_gene_variant STAD-US 1 212273912 212273912 single base substitution C T exon_variant STAD-US 1 212273912 212273912 single base substitution C T missense_variant P485L 1454C>T STAD-US 1 212273912 212273912 single base substitution C T missense_variant P527L 1580C>T STAD-US 1 212273912 212273912 single base substitution C T upstream_gene_variant STAD-US 1 212273987 212273987 single base substitution A G downstream_gene_variant STAD-US 1 212273987 212273987 single base substitution A G exon_variant STAD-US 1 212273987 212273987 single base substitution A G missense_variant K510R 1529A>G STAD-US 1 212273987 212273987 single base substitution A G missense_variant K552R 1655A>G STAD-US 1 212273987 212273987 single base substitution A G upstream_gene_variant STAD-US 1 212274197 212274197 single base substitution C T downstream_gene_variant STAD-US 1 212274197 212274197 single base substitution C T exon_variant STAD-US 1 212274197 212274197 single base substitution C T missense_variant P580L 1739C>T STAD-US 1 212274197 212274197 single base substitution C T missense_variant P622L 1865C>T THCA-SA 1 212277589 212277589 single base substitution C G 3_prime_UTR_variant THCA-SA 1 212277589 212277589 single base substitution C G downstream_gene_variant THCA-SA 1 212277589 212277589 single base substitution C G exon_variant THCA-SA 1 212277589 212277589 single base substitution C G intron_variant THCA-US 1 212220678 212220678 single base substitution G A exon_variant THCA-US 1 212220678 212220678 single base substitution G A missense_variant V127I 379G>A THCA-US 1 212220678 212220678 single base substitution G A missense_variant V85I 253G>A UCEC-US 1 212236233 212236233 single base substitution C A exon_variant UCEC-US 1 212236233 212236233 single base substitution C A missense_variant F114L 342C>A UCEC-US 1 212236233 212236233 single base substitution C A missense_variant F156L 468C>A UCEC-US 1 212241979 212241979 single base substitution T G exon_variant UCEC-US 1 212241979 212241979 single base substitution T G missense_variant L244V 730T>G UCEC-US 1 212241979 212241979 single base substitution T G missense_variant L286V 856T>G UCEC-US 1 212241979 212241979 single base substitution T G upstream_gene_variant UCEC-US 1 212251570 212251570 single base substitution C T exon_variant UCEC-US 1 212251570 212251570 single base substitution C T missense_variant T322M 965C>T UCEC-US 1 212251570 212251570 single base substitution C T missense_variant T364M 1091C>T UCEC-US 1 212251570 212251570 single base substitution C T upstream_gene_variant UCEC-US 1 212254014 212254014 single base substitution G T exon_variant UCEC-US 1 212254014 212254014 single base substitution G T stop_gained E353* 1057G>T UCEC-US 1 212254014 212254014 single base substitution G T stop_gained E395* 1183G>T UCEC-US 1 212273607 212273607 single base substitution T C exon_variant UCEC-US 1 212273607 212273607 single base substitution T C synonymous_variant S383S 1149T>C UCEC-US 1 212273607 212273607 single base substitution T C synonymous_variant S425S 1275T>C UCEC-US 1 212273607 212273607 single base substitution T C upstream_gene_variant UCEC-US 1 212273784 212273784 single base substitution C A downstream_gene_variant UCEC-US 1 212273784 212273784 single base substitution C A exon_variant UCEC-US 1 212273784 212273784 single base substitution C A synonymous_variant G442G 1326C>A UCEC-US 1 212273784 212273784 single base substitution C A synonymous_variant G484G 1452C>A UCEC-US 1 212273784 212273784 single base substitution C A upstream_gene_variant UCEC-US 1 212273891 212273891 single base substitution C T downstream_gene_variant UCEC-US 1 212273891 212273891 single base substitution C T exon_variant UCEC-US 1 212273891 212273891 single base substitution C T missense_variant S478L 1433C>T UCEC-US 1 212273891 212273891 single base substitution C T missense_variant S520L 1559C>T UCEC-US 1 212273891 212273891 single base substitution C T upstream_gene_variant UCEC-US 1 212273915 212273915 single base substitution G T downstream_gene_variant UCEC-US 1 212273915 212273915 single base substitution G T exon_variant UCEC-US 1 212273915 212273915 single base substitution G T missense_variant R486I 1457G>T UCEC-US 1 212273915 212273915 single base substitution G T missense_variant R528I 1583G>T UCEC-US 1 212273915 212273915 single base substitution G T upstream_gene_variant UCEC-US 1 212274110 212274110 single base substitution G A downstream_gene_variant UCEC-US 1 212274110 212274110 single base substitution G A exon_variant UCEC-US 1 212274110 212274110 single base substitution G A missense_variant G551D 1652G>A UCEC-US 1 212274110 212274110 single base substitution G A missense_variant G593D 1778G>A UCEC-US 1 212274173 212274173 single base substitution C T downstream_gene_variant UCEC-US 1 212274173 212274173 single base substitution C T exon_variant UCEC-US 1 212274173 212274173 single base substitution C T missense_variant A572V 1715C>T UCEC-US 1 212274173 212274173 single base substitution C T missense_variant A614V 1841C>T UCEC-US 1 212274425 212274425 single base substitution C T downstream_gene_variant UCEC-US 1 212274425 212274425 single base substitution C T missense_variant P656L 1967C>T UCEC-US 1 212274425 212274425 single base substitution C T missense_variant P698L 2093C>T UCEC-US 1 212274425 212274425 single base substitution C T splice_region_variant UCEC-US 1 212276274 212276274 single base substitution G T downstream_gene_variant UCEC-US 1 212276274 212276274 single base substitution G T exon_variant UCEC-US 1 212276274 212276274 single base substitution G T intron_variant UCEC-US 1 212276274 212276274 single base substitution G T stop_gained E687* 2059G>T UCEC-US 1 212276274 212276274 single base substitution G T stop_gained E729* 2185G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-22-5472-01 COSM678719 c.394C>A p.L132M Substitution - Missense 1:212047351-212047351 + H2009 COSM1193951 c.143T>C p.V48A Substitution - Missense 1:212043083-212043083 + TCGA-24-1843-01 COSM1320501 c.2036G>C p.S679T Substitution - Missense 1:212101026-212101026 + PT35 COSM5911301 c.323C>T p.P108L Substitution - Missense 1:212047196-212047196 + TCGA-AP-A056-01 COSM903538 c.856T>G p.L286V Substitution - Missense 1:212068637-212068637 + TCGA-D9-A6EC-06 COSM1689802 c.1463C>T p.S488F Substitution - Missense 1:212100453-212100453 + YUPAER COSM5379589 c.695C>T p.S232L Substitution - Missense 1:212066867-212066867 + YUKLAB COSM1689803 c.1615T>G p.S539A Substitution - Missense 1:212100605-212100605 + TCGA-FS-A1ZA-06 COSM3483124 c.1331C>T p.S444F Substitution - Missense 1:212100321-212100321 + Pat_37_B COSM1930051 c.473C>T p.T158M Substitution - Missense 1:212062896-212062896 + C32 COSM4618986 c.660T>C p.T220T Substitution - coding silent 1:212066832-212066832 + TCGA-EM-A3AQ-01 COSM3369527 c.379G>A p.V127I Substitution - Missense 1:212047336-212047336 + TCGA-AP-A059-01 COSM903540 c.1183G>T p.E395* Substitution - Nonsense 1:212080672-212080672 + Pat_66_A COSM5845388 c.1879C>T p.P627S Substitution - Missense 1:212100869-212100869 + TCGA-AP-A0LM-01 COSM903549 c.1841C>T p.A614V Substitution - Missense 1:212100831-212100831 + YUWAND COSM1689804 c.1916C>T p.P639L Substitution - Missense 1:212100906-212100906 + TCGA-EE-A2GP-06 COSM3483128 c.2039C>T p.P680L Substitution - Missense 1:212101029-212101029 + TCGA-CA-6717-01 COSM1338645 c.230G>A p.R77Q Substitution - Missense 1:212044711-212044711 + KYSE-450 COSM1930059 c.833T>C p.I278T Substitution - Missense 1:212068614-212068614 + SJMB039 COSM255598 c.1152A>C p.T384T Substitution - coding silent 1:212080641-212080641 + TCGA-BR-6802-01 COSM1930049 c.301G>A p.V101I Substitution - Missense 1:212047174-212047174 + TCGA-BR-8487-01 COSM4027925 c.1865C>T p.P622L Substitution - Missense 1:212100855-212100855 + 1604875 COSM143383 c.1864_1865CC>TT p.P622L Substitution - Missense 1:212100854-212100855 + TCGA-AA-3672-01 COSM266429 c.1413C>A p.T471T Substitution - coding silent 1:212100403-212100403 + TCGA-FW-A3R5-06 COSM3864403 c.2112C>T p.S704S Substitution - coding silent 1:212102859-212102859 + 0080_CRUK_PC_0080_T1_DNA COSM4419375 c.2158G>A p.D720N Substitution - Missense 1:212102905-212102905 + HX27T COSM3705470 c.483A>G p.R161R Substitution - coding silent 1:212062906-212062906 + OSCC-GB_01060111 COSM4882841 c.1001G>T p.S334I Substitution - Missense 1:212072179-212072179 + 587376 COSM1204674 c.1403C>T p.S468F Substitution - Missense 1:212100393-212100393 + PT21_2 COSM1930084 c.1319C>T p.P440L Substitution - Missense 1:212100309-212100309 + AOCS-166-1-2 COSM3943443 c.1905G>A p.T635T Substitution - coding silent 1:212100895-212100895 + 1910786 COSM1293110 c.2074G>A p.G692R Substitution - Missense 1:212101064-212101064 + TCGA-D7-A4YT-01 COSM4027917 c.561A>G p.G187G Substitution - coding silent 1:212064951-212064951 + TCGA-AD-6889-01 COSM1338646 c.526delG p.D176fs*7 Deletion - Frameshift 1:212062949-212062949 + STC246 COSM5053076 c.1464C>T p.S488S Substitution - coding silent 1:212100454-212100454 + YUKAT COSM5379590 c.1965T>C p.S655S Substitution - coding silent 1:212100955-212100955 + TCGA-BS-A0UL-01 COSM903547 c.1598C>A p.P533H Substitution - Missense 1:212100588-212100588 + TCGA-AP-A059-01 COSM903539 c.1091C>T p.T364M Substitution - Missense 1:212078228-212078228 + SNUH_G45_S1 COSM3997205 c.420A>G p.Q140Q Substitution - coding silent 1:212047377-212047377 + TCGA-D1-A167-01 COSM903550 c.2093C>T p.P698L Substitution - Missense 1:212101083-212101083 + CSCC-27-T COSM4476072 c.2039C>A p.P680Q Substitution - Missense 1:212101029-212101029 + sysucc-1397T COSM5473325 c.1101C>T p.C367C Substitution - coding silent 1:212078238-212078238 + PD4935a COSM160609 c.782C>T p.S261F Substitution - Missense 1:212068292-212068292 + PD22357a COSM5784044 c.1337C>T p.S446L Substitution - Missense 1:212100327-212100327 + TCGA-AP-A051-01 COSM903544 c.1452C>A p.G484G Substitution - coding silent 1:212100442-212100442 + Pat_45_B COSM5845384 c.610C>T p.Q204* Substitution - Nonsense 1:212065000-212065000 + TCGA-DK-A3WW-01 COSM1930096 c.2033G>A p.R678Q Substitution - Missense 1:212101023-212101023 + TCGA-BS-A0UM-01 COSM903543 c.1275T>C p.S425S Substitution - coding silent 1:212100265-212100265 + HCC062T COSM5820770 c.1546A>C p.T516P Substitution - Missense 1:212100536-212100536 + B65 COSM1748139 c.909G>A p.L303L Substitution - coding silent 1:212068690-212068690 + TCGA-EE-A2MR-06 COSM3483123 c.1305G>A p.R435R Substitution - coding silent 1:212100295-212100295 + TCGA-F5-6814-01 COSM3418709 c.1754A>G p.H585R Substitution - Missense 1:212100744-212100744 + B65-Tumor COSM1748139 c.909G>A p.L303L Substitution - coding silent 1:212068690-212068690 + TCGA-DD-A3A0-01 COSM4934711 c.527-2A>G p.? Unknown 1:212064915-212064915 + YUWAND COSM1689801 c.1318C>T p.P440S Substitution - Missense 1:212100308-212100308 + TCGA-D8-A27V-01 COSM3803805 c.809G>A p.R270Q Substitution - Missense 1:212068319-212068319 + TCGA-BR-6452-01 COSM4027922 c.1465G>A p.V489I Substitution - Missense 1:212100455-212100455 + sysucc-880T COSM5462154 c.1302C>A p.P434P Substitution - coding silent 1:212100292-212100292 + GC8_T COSM146760 c.2187A>G p.E729E Substitution - coding silent 1:212102934-212102934 + 259610 COSM3725320 c.1092G>A p.T364T Substitution - coding silent 1:212078229-212078229 + PD4103a COSM160608 c.1649G>T p.R550I Substitution - Missense 1:212100639-212100639 + TCGA-AN-A046-01 COSM1930096 c.2033G>A p.R678Q Substitution - Missense 1:212101023-212101023 + C32 COSM1930096 c.2033G>A p.R678Q Substitution - Missense 1:212101023-212101023 + TCGA-EE-A29S-06 COSM3483125 c.1478C>T p.P493L Substitution - Missense 1:212100468-212100468 + SJMB039 COSM255598 c.1152A>C p.T384T Substitution - coding silent 1:212080641-212080641 + Gp5D COSM1930093 c.1833T>C p.I611I Substitution - coding silent 1:212100823-212100823 + PT33 COSM5907878 c.818-4C>T p.? Unknown 1:212068595-212068595 + CSCC-45-T COSM4565282 c.1937_1938GG>AA p.G646E Substitution - Missense 1:212100927-212100928 + B65 COSM1748140 c.912G>A p.K304K Substitution - coding silent 1:212068693-212068693 + Gp2D COSM1930093 c.1833T>C p.I611I Substitution - coding silent 1:212100823-212100823 + HCT15 COSM1930062 c.1149T>C p.N383N Substitution - coding silent 1:212080638-212080638 + TCGA-AX-A05Z-01 COSM903551 c.2185G>T p.E729* Substitution - Nonsense 1:212102932-212102932 + TCGA-G4-6304-01 COSM1338650 c.1952G>A p.G651D Substitution - Missense 1:212100942-212100942 + YUKLAB COSM1689805 c.2140C>T p.H714Y Substitution - Missense 1:212102887-212102887 + ESCC_BICR_061T COSM5430703 c.1871C>T p.P624L Substitution - Missense 1:212100861-212100861 + ESCC_BICR_040T COSM5429806 c.1188G>C p.E396D Substitution - Missense 1:212080677-212080677 + TCGA-EE-A29Q-06 COSM3483127 c.2003C>T p.A668V Substitution - Missense 1:212100993-212100993 + ESCC_58 COSM5632486 c.2105C>T p.T702M Substitution - Missense 1:212102852-212102852 + PD4958a COSM5788154 c.938G>A p.G313E Substitution - Missense 1:212072116-212072116 + TCGA-BR-4361-01 COSM4027918 c.1206A>G p.K402K Substitution - coding silent 1:212080695-212080695 + TCGA-AS-3777-01 COSM1491968 c.1352C>T p.A451V Substitution - Missense 1:212100342-212100342 + TCGA-D1-A0ZO-01 COSM903545 c.1559C>T p.S520L Substitution - Missense 1:212100549-212100549 + TCGA-D1-A103-01 COSM903548 c.1778G>A p.G593D Substitution - Missense 1:212100768-212100768 + 437 COSM1689804 c.1916C>T p.P639L Substitution - Missense 1:212100906-212100906 + J1_T COSM3976957 c.1082A>C p.Q361P Substitution - Missense 1:212078219-212078219 + TCGA-CH-5772-01 COSM1127149 c.1756T>C p.L586L Substitution - coding silent 1:212100746-212100746 + LUAD-YINHD COSM349955 c.612G>A p.Q204Q Substitution - coding silent 1:212065002-212065002 + HCC88 COSM1601622 c.1829A>G p.K610R Substitution - Missense 1:212100819-212100819 + TCGA-B5-A0JY-01 COSM903537 c.468C>A p.F156L Substitution - Missense 1:212062891-212062891 + QC2-25-T2 COSM5653213 c.1071G>A p.L357L Substitution - coding silent 1:212078208-212078208 + 587270 COSM1204673 c.230G>T p.R77L Substitution - Missense 1:212044711-212044711 + TCGA-D5-6928-01 COSM1338647 c.1171A>G p.N391D Substitution - Missense 1:212080660-212080660 + WT004-T1 COSM5351751 c.747T>C p.Y249Y Substitution - coding silent 1:212068257-212068257 + YUZINO COSM1689806 c.2150_2151CC>TT p.S717F Substitution - Missense 1:212102897-212102898 + T3535 COSM4679572 c.198A>G p.V66V Substitution - coding silent 1:212044679-212044679 + B65-Tumor COSM1748140 c.912G>A p.K304K Substitution - coding silent 1:212068693-212068693 + DLD1 COSM1930062 c.1149T>C p.N383N Substitution - coding silent 1:212080638-212080638 + TCGA-AA-3672-01 COSM292746 c.1155delA p.I387fs*4 Deletion - Frameshift 1:212080644-212080644 + CH-60-T2 COSM5651214 c.1431G>T p.R477R Substitution - coding silent 1:212100421-212100421 + QGP1 COSM5368197 c.1864C>T p.P622S Substitution - Missense 1:212100854-212100854 + TCGA-HU-A4G9-01 COSM4027924 c.1655A>G p.K552R Substitution - Missense 1:212100645-212100645 + SNU-175 COSM1930092 c.1801G>A p.D601N Substitution - Missense 1:212100791-212100791 + TCGA-39-5024-01 COSM678717 c.1662G>C p.R554S Substitution - Missense 1:212100652-212100652 + YUKAT COSM5379588 c.465A>T p.V155V Substitution - coding silent 1:212062888-212062888 + 0055_CRUK_PC_0055_T1_DNA COSM5422224 c.340-1G>T p.? Unknown 1:212047296-212047296 + TCGA-AA-A00N-01 COSM274902 c.1787A>C p.E596A Substitution - Missense 1:212100777-212100777 + HCC88T COSM1601622 c.1829A>G p.K610R Substitution - Missense 1:212100819-212100819 + 61 COSM5735827 c.1858G>T p.E620* Substitution - Nonsense 1:212100848-212100848 + ME009T COSM222641 c.1412C>T p.T471I Substitution - Missense 1:212100402-212100402 + PD4103a COSM160608 c.1649G>T p.R550I Substitution - Missense 1:212100639-212100639 + D6 COSM5007219 c.451T>G p.F151V Substitution - Missense 1:212047408-212047408 + TCGA-66-2755-01 COSM678718 c.1429C>T p.R477W Substitution - Missense 1:212100419-212100419 + 722_T COSM3976958 c.1602G>C p.V534V Substitution - coding silent 1:212100592-212100592 + TCGA-EE-A29E-06 COSM3483116 c.161G>A p.G54E Substitution - Missense 1:212043101-212043101 + TCGA-D3-A5GS-06 COSM3483126 c.1550C>T p.P517L Substitution - Missense 1:212100540-212100540 + YUSCO COSM1689802 c.1463C>T p.S488F Substitution - Missense 1:212100453-212100453 + LUAD-S01302 COSM395825 c.646C>A p.Q216K Substitution - Missense 1:212066818-212066818 + 3N06-VS-3T06 COSM4978830 c.42C>T p.V14V Substitution - coding silent 1:212035932-212035932 + TCGA-AA-3713-01 COSM1338648 c.1272G>A p.T424T Substitution - coding silent 1:212100262-212100262 + TCGA-B5-A0JY-01 COSM903546 c.1583G>T p.R528I Substitution - Missense 1:212100573-212100573 + ESCC_BICR_012T COSM5433005 c.1114G>A p.D372N Substitution - Missense 1:212078251-212078251 + TCGA-BR-4184-01 COSM4027923 c.1580C>T p.P527L Substitution - Missense 1:212100570-212100570 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.656469;Hs.656470;Hs.656473 1q32 610617 2434640|CGAP|BC033297|A/C|coding|Gly651Gly|2031|Candidate; 2434640|CGAP|BC033540|A/C|coding|Gly651Gly|2072|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.Y320S c.959A>C 1 212245479 LUAD A G IntronicSNV . c.460+4339A>G 1 212225098 HC C A Missense p.L132M c.394C>A 1 212220693 LUSC C A Synonymous p.R507R c.1519C>A 1 212273851 LUAD C G IntronicSNV . c.639+128C>G 1 212238499 PIA C G Missense p.P445R c.1334C>G 1 212273666 BRCA C G Synonymous p.A476A c.1428C>G 1 212273760 LUAD C T 5-UTRSNV . c.1-41C>T 1 212209192 CM C T IntronicSNV . c.923-10C>T 1 212245433 CM C T Missense p.A668V c.2003C>T 1 212274335 CM C T Missense p.P465S c.1393C>T 1 212273725 CM C T Missense p.P493L c.1478C>T 1 212273810 CM C T Missense p.P680L c.2039C>T 1 212274371 CM C T Missense p.P685L c.2054C>T 1 212274386 CM C T Missense p.R477W c.1429C>T 1 212273761 LUSC C T Missense p.S261F c.782C>T 1 212241634 BRCA C T Missense p.S444F c.1331C>T 1 212273663 CM C T Missense p.S520L c.1559C>T 1 212273891 UCEC C T Missense p.T471I c.1412C>T 1 212273744 CM C T Synonymous p.V346V c.1038C>T 1 212251517 CM G A Missense p.V101I c.301G>A 1 212220516 STAD G A Missense p.V127I c.379G>A 1 212220678 THCA G A Synonymous p.E395E c.1185G>A 1 212254016 CM G C Missense p.E131Q c.391G>C 1 212220690 BRCA G C Missense p.R554S c.1662G>C 1 212273994 LUSC G T 3-UTRSNV . c.2190+512G>T 1 212276791 MB G T Missense p.R550I c.1649G>T 1 212273981 BRCA T C Synonymous p.L586L c.1756T>C 1 212274088 PRAD T C Synonymous p.S425S c.1275T>C 1 212273607 UCEC T - IntronicDeletion . c.923-11delT 1 212245426 STAD - TTTG IntronicInsertion . c.1262-1029_1262-1028insTGTT 1 212272563 CM