Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 23 123019711 123019711 + Missense_Mutation SNP C C T TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chrX:123019711C>T c.199C>T c.(199-201)Cat>Tat p.H67Y BLCA 23 123020109 123020109 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chrX:123020109G>T c.597G>T c.(595-597)caG>caT p.Q199H BLCA 23 123022477 123022477 + Missense_Mutation SNP G G A TCGA-BL-A5ZZ-01A-31D-A30E-08 TCGA-BL-A5ZZ-10A-01D-A30H-08 g.chrX:123022477G>A c.886G>A c.(886-888)Gat>Aat p.D296N BLCA 23 123040977 123040977 + Silent SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 g.chrX:123040977G>A c.1440G>A c.(1438-1440)aaG>aaA p.K480K BRCA 23 123019797 123019797 + Silent SNP C C A TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 g.chrX:123019797C>A c.285C>A c.(283-285)ggC>ggA p.G95G BRCA 23 123019870 123019870 + Missense_Mutation SNP T T A TCGA-A2-A0CZ-01A-11W-A050-09 TCGA-A2-A0CZ-10A-01W-A055-09 g.chrX:123019870T>A c.358T>A c.(358-360)Tat>Aat p.Y120N BRCA 23 123020211 123020211 + Silent SNP G G A TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chrX:123020211G>A c.699G>A c.(697-699)cgG>cgA p.R233R BRCA 23 123040998 123040998 + Silent SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 g.chrX:123040998C>G c.1461C>G c.(1459-1461)gtC>gtG p.V487V CESC 23 123025119 123025119 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chrX:123025119G>T c.1009G>T c.(1009-1011)Gaa>Taa p.E337* COAD 23 123019859 123019859 + Missense_Mutation SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chrX:123019859A>G c.347A>G c.(346-348)aAa>aGa p.K116R COAD 23 123019982 123019982 + Missense_Mutation SNP A A G TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chrX:123019982A>G c.470A>G c.(469-471)aAc>aGc p.N157S COAD 23 123020045 123020045 + Missense_Mutation SNP A A G TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chrX:123020045A>G c.533A>G c.(532-534)cAc>cGc p.H178R COAD 23 123020048 123020048 + Missense_Mutation SNP T T C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chrX:123020048T>C c.536T>C c.(535-537)cTa>cCa p.L179P COAD 23 123020278 123020278 + Missense_Mutation SNP C C A TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chrX:123020278C>A c.766C>A c.(766-768)Ctt>Att p.L256I COAD 23 123034388 123034388 + Missense_Mutation SNP T T C TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chrX:123034388T>C c.1145T>C c.(1144-1146)aTg>aCg p.M382T COAD 23 123034434 123034434 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chrX:123034434T>G c.1191T>G c.(1189-1191)atT>atG p.I397M COAD 23 123041016 123041016 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrX:123041016A>C c.1479A>C c.(1477-1479)aaA>aaC p.K493N COAD 23 123041019 123041019 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chrX:123041019T>G c.1482T>G c.(1480-1482)atT>atG p.I494M COADREAD 23 123019859 123019859 + Missense_Mutation SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chrX:123019859A>G c.347A>G c.(346-348)aAa>aGa p.K116R COADREAD 23 123019982 123019982 + Missense_Mutation SNP A A G TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chrX:123019982A>G c.470A>G c.(469-471)aAc>aGc p.N157S COADREAD 23 123020045 123020045 + Missense_Mutation SNP A A G TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chrX:123020045A>G c.533A>G c.(532-534)cAc>cGc p.H178R COADREAD 23 123020048 123020048 + Missense_Mutation SNP T T C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chrX:123020048T>C c.536T>C c.(535-537)cTa>cCa p.L179P COADREAD 23 123020278 123020278 + Missense_Mutation SNP C C A TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chrX:123020278C>A c.766C>A c.(766-768)Ctt>Att p.L256I COADREAD 23 123034388 123034388 + Missense_Mutation SNP T T C TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chrX:123034388T>C c.1145T>C c.(1144-1146)aTg>aCg p.M382T COADREAD 23 123034434 123034434 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chrX:123034434T>G c.1191T>G c.(1189-1191)atT>atG p.I397M COADREAD 23 123041016 123041016 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrX:123041016A>C c.1479A>C c.(1477-1479)aaA>aaC p.K493N COADREAD 23 123041019 123041019 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chrX:123041019T>G c.1482T>G c.(1480-1482)atT>atG p.I494M GBMLGG 23 123019612 123019612 + Missense_Mutation SNP G G T TCGA-TQ-A7RJ-01A-11D-A33T-08 TCGA-TQ-A7RJ-10A-01D-A33W-08 g.chrX:123019612G>T c.100G>T c.(100-102)Gct>Tct p.A34S GBMLGG 23 123019851 123019851 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:123019851T>C c.339T>C c.(337-339)ggT>ggC p.G113G GBMLGG 23 123020096 123020096 + Missense_Mutation SNP G G C TCGA-FG-5965-01B-11D-1893-08 TCGA-FG-5965-10A-01D-1893-08 g.chrX:123020096G>C c.584G>C c.(583-585)gGt>gCt p.G195A GBMLGG 23 123025089 123025089 + Splice_Site SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:123025089T>C c.979T>C c.(979-981)Tgc>Cgc p.C327R GBMLGG 23 123034427 123034427 + Missense_Mutation SNP A A G TCGA-HT-7604-01A-11D-2086-08 TCGA-HT-7604-10A-01D-2086-08 g.chrX:123034427A>G c.1184A>G c.(1183-1185)gAa>gGa p.E395G HNSC 23 123019596 123019596 + Silent SNP T T C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 g.chrX:123019596T>C c.84T>C c.(82-84)aaT>aaC p.N28N HNSC 23 123019598 123019598 + Missense_Mutation SNP G G C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 g.chrX:123019598G>C c.86G>C c.(85-87)aGa>aCa p.R29T HNSC 23 123019940 123019940 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 g.chrX:123019940C>A c.428C>A c.(427-429)aCt>aAt p.T143N HNSC 23 123040864 123040864 + Missense_Mutation SNP C C T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 g.chrX:123040864C>T c.1327C>T c.(1327-1329)Cgc>Tgc p.R443C KIPAN 23 123020288 123020288 + Missense_Mutation SNP A A G TCGA-CJ-4897-01A-03D-1429-08 TCGA-CJ-4897-11A-01D-1429-08 g.chrX:123020288A>G c.776A>G c.(775-777)aAt>aGt p.N259S KIPAN 23 123025168 123025168 + Splice_Site SNP T T C TCGA-AK-3436-01A-02D-1386-10 TCGA-AK-3436-10A-01D-1251-10 g.chrX:123025168T>C c.e4+2 KIRC 23 123020288 123020288 + Missense_Mutation SNP A A G TCGA-CJ-4897-01A-03D-1429-08 TCGA-CJ-4897-11A-01D-1429-08 g.chrX:123020288A>G c.776A>G c.(775-777)aAt>aGt p.N259S KIRC 23 123025168 123025168 + Splice_Site SNP T T C TCGA-AK-3436-01A-02D-1386-10 TCGA-AK-3436-10A-01D-1251-10 g.chrX:123025168T>C c.e4+2 LGG 23 123019612 123019612 + Missense_Mutation SNP G G T TCGA-TQ-A7RJ-01A-11D-A33T-08 TCGA-TQ-A7RJ-10A-01D-A33W-08 g.chrX:123019612G>T c.100G>T c.(100-102)Gct>Tct p.A34S LGG 23 123019851 123019851 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:123019851T>C c.339T>C c.(337-339)ggT>ggC p.G113G LGG 23 123020096 123020096 + Missense_Mutation SNP G G C TCGA-FG-5965-01B-11D-1893-08 TCGA-FG-5965-10A-01D-1893-08 g.chrX:123020096G>C c.584G>C c.(583-585)gGt>gCt p.G195A LGG 23 123025089 123025089 + Splice_Site SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:123025089T>C c.979T>C c.(979-981)Tgc>Cgc p.C327R LGG 23 123034427 123034427 + Missense_Mutation SNP A A G TCGA-HT-7604-01A-11D-2086-08 TCGA-HT-7604-10A-01D-2086-08 g.chrX:123034427A>G c.1184A>G c.(1183-1185)gAa>gGa p.E395G LIHC 23 123019618 123019618 + Missense_Mutation SNP T T C TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chrX:123019618T>C c.106T>C c.(106-108)Ttt>Ctt p.F36L LIHC 23 123020184 123020184 + Silent SNP T T C TCGA-CC-A3MA-01A-11D-A20W-10 TCGA-CC-A3MA-10A-01D-A20W-10 g.chrX:123020184T>C c.672T>C c.(670-672)ttT>ttC p.F224F LUAD 23 123019558 123019558 + Missense_Mutation SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 g.chrX:123019558G>T c.46G>T c.(46-48)Gac>Tac p.D16Y LUAD 23 123019761 123019761 + Missense_Mutation SNP C C A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chrX:123019761C>A c.249C>A c.(247-249)caC>caA p.H83Q LUAD 23 123019764 123019764 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 g.chrX:123019764G>T c.252G>T c.(250-252)agG>agT p.R84S LUAD 23 123019993 123019993 + Missense_Mutation SNP T T A TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chrX:123019993T>A c.481T>A c.(481-483)Tat>Aat p.Y161N LUAD 23 123020085 123020085 + Nonsense_Mutation SNP C C A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 g.chrX:123020085C>A c.573C>A c.(571-573)taC>taA p.Y191* LUAD 23 123020298 123020298 + Missense_Mutation SNP G G T TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chrX:123020298G>T c.786G>T c.(784-786)atG>atT p.M262I LUAD 23 123040864 123040864 + Missense_Mutation SNP C C G TCGA-55-7724-01A-11D-2167-08 TCGA-55-7724-10A-01D-2167-08 g.chrX:123040864C>G c.1327C>G c.(1327-1329)Cgc>Ggc p.R443G LUAD 23 123040876 123040876 + Nonsense_Mutation SNP G G T TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chrX:123040876G>T c.1339G>T c.(1339-1341)Gag>Tag p.E447* LUAD 23 123041011 123041011 + Missense_Mutation SNP C C A TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chrX:123041011C>A c.1474C>A c.(1474-1476)Caa>Aaa p.Q492K LUSC 23 123019782 123019782 + Nonsense_Mutation SNP C C A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chrX:123019782C>A c.270C>A c.(268-270)tgC>tgA p.C90* LUSC 23 123019959 123019959 + Missense_Mutation SNP A A G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 g.chrX:123019959A>G c.447A>G c.(445-447)atA>atG p.I149M LUSC 23 123020331 123020331 + Silent SNP G G A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 g.chrX:123020331G>A c.819G>A c.(817-819)ggG>ggA p.G273G LUSC 23 123034381 123034381 + Missense_Mutation SNP A A G TCGA-63-5128-01A-01D-1441-08 TCGA-63-5128-10A-01D-1441-08 g.chrX:123034381A>G c.1138A>G c.(1138-1140)Ata>Gta p.I380V LUSC 23 123034478 123034478 + Missense_Mutation SNP C C T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 g.chrX:123034478C>T c.1235C>T c.(1234-1236)gCa>gTa p.A412V LUSC 23 123040952 123040952 + Missense_Mutation SNP A A G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 g.chrX:123040952A>G c.1415A>G c.(1414-1416)aAa>aGa p.K472R OV 23 123020045 123020045 + Missense_Mutation SNP A A G TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 g.chrX:123020045A>G c.533A>G c.(532-534)cAc>cGc p.H178R OV 23 123034352 123034352 + Missense_Mutation SNP T T C TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 g.chrX:123034352T>C c.1109T>C c.(1108-1110)aTc>aCc p.I370T OV 23 123040873 123040873 + Missense_Mutation SNP G G C TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 g.chrX:123040873G>C c.1336G>C c.(1336-1338)Gag>Cag p.E446Q OV 23 123040922 123040922 + Missense_Mutation SNP T T A TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 g.chrX:123040922T>A c.1385T>A c.(1384-1386)tTt>tAt p.F462Y SKCM 23 123022525 123022525 + Missense_Mutation SNP C C T TCGA-DA-A1IA-06A-11D-A196-08 TCGA-DA-A1IA-10A-01D-A198-08 g.chrX:123022525C>T c.934C>T c.(934-936)Ccc>Tcc p.P312S SKCM 23 123022526 123022526 + Missense_Mutation SNP C C T TCGA-DA-A1IA-06A-11D-A196-08 TCGA-DA-A1IA-10A-01D-A198-08 g.chrX:123022526C>T c.935C>T c.(934-936)cCc>cTc p.P312L SKCM 23 123034363 123034363 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chrX:123034363C>T c.1120C>T c.(1120-1122)Cct>Tct p.P374S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US X 123040977 123040977 single base substitution G A downstream_gene_variant BLCA-US X 123040977 123040977 single base substitution G A exon_variant BLCA-US X 123040977 123040977 single base substitution G A synonymous_variant K480K 1440G>A BOCA-FR X 123002221 123002221 single base substitution C G intron_variant BRCA-EU X 122988735 122988735 single base substitution C A upstream_gene_variant BRCA-EU X 122989731 122989731 single base substitution C T upstream_gene_variant BRCA-EU X 122989963 122989963 single base substitution C G upstream_gene_variant BRCA-EU X 122990314 122990314 single base substitution C A upstream_gene_variant BRCA-EU X 122992189 122992189 single base substitution G A upstream_gene_variant BRCA-EU X 122992579 122992579 single base substitution G C upstream_gene_variant BRCA-EU X 122992837 122992837 single base substitution T A upstream_gene_variant BRCA-EU X 122993097 122993097 single base substitution C G upstream_gene_variant BRCA-EU X 122993726 122993726 single base substitution G A 5_prime_UTR_variant BRCA-EU X 122993726 122993726 single base substitution G A exon_variant BRCA-EU X 122993726 122993726 single base substitution G A upstream_gene_variant BRCA-EU X 122994290 122994290 single base substitution G A 5_prime_UTR_variant BRCA-EU X 122994290 122994290 single base substitution G A intron_variant BRCA-EU X 122994290 122994290 single base substitution G A upstream_gene_variant BRCA-EU X 122994624 122994624 single base substitution G A intron_variant BRCA-EU X 122994673 122994673 single base substitution C T intron_variant BRCA-EU X 122994907 122994907 deletion of <=200bp T - intron_variant BRCA-EU X 122995142 122995142 single base substitution C G intron_variant BRCA-EU X 122995909 122995909 deletion of <=200bp T - intron_variant BRCA-EU X 122996067 122996067 single base substitution C T intron_variant BRCA-EU X 122997122 122997122 single base substitution G A intron_variant BRCA-EU X 122997276 122997276 single base substitution G T intron_variant BRCA-EU X 122997277 122997277 single base substitution G T intron_variant BRCA-EU X 122997793 122997793 single base substitution C T intron_variant BRCA-EU X 122998417 122998417 single base substitution C T intron_variant BRCA-EU X 122999153 122999153 single base substitution G A intron_variant BRCA-EU X 122999610 122999610 single base substitution A C intron_variant BRCA-EU X 123000890 123000890 single base substitution C T intron_variant BRCA-EU X 123001576 123001576 single base substitution C T intron_variant BRCA-EU X 123001887 123001887 single base substitution C G intron_variant BRCA-EU X 123003549 123003549 single base substitution G T intron_variant BRCA-EU X 123004473 123004473 deletion of <=200bp A - intron_variant BRCA-EU X 123004845 123004845 single base substitution T A intron_variant BRCA-EU X 123005870 123005870 single base substitution G C intron_variant BRCA-EU X 123005929 123005929 single base substitution G A intron_variant BRCA-EU X 123006285 123006285 single base substitution C G intron_variant BRCA-EU X 123008432 123008432 single base substitution G T intron_variant BRCA-EU X 123008878 123008878 single base substitution T A intron_variant BRCA-EU X 123008993 123008993 single base substitution G C intron_variant BRCA-EU X 123009575 123009575 single base substitution G A intron_variant BRCA-EU X 123009690 123009690 single base substitution C T intron_variant BRCA-EU X 123010384 123010384 single base substitution T C intron_variant BRCA-EU X 123012838 123012838 single base substitution T G intron_variant BRCA-EU X 123014345 123014345 single base substitution G C intron_variant BRCA-EU X 123014418 123014418 single base substitution C G intron_variant BRCA-EU X 123014616 123014616 single base substitution A T intron_variant BRCA-EU X 123015008 123015008 single base substitution C A intron_variant BRCA-EU X 123015442 123015442 single base substitution C A intron_variant BRCA-EU X 123016063 123016063 single base substitution T G intron_variant BRCA-EU X 123016118 123016118 single base substitution G C intron_variant BRCA-EU X 123017020 123017020 single base substitution C A intron_variant BRCA-EU X 123017389 123017389 single base substitution C T intron_variant BRCA-EU X 123017647 123017647 deletion of <=200bp T - intron_variant BRCA-EU X 123017752 123017752 single base substitution T C intron_variant BRCA-EU X 123018448 123018448 single base substitution A C intron_variant BRCA-EU X 123018625 123018625 single base substitution C G intron_variant BRCA-EU X 123018974 123018974 single base substitution A T intron_variant BRCA-EU X 123019615 123019615 single base substitution A G downstream_gene_variant BRCA-EU X 123019615 123019615 single base substitution A G intron_variant BRCA-EU X 123019615 123019615 single base substitution A G missense_variant N35D 103A>G BRCA-EU X 123020075 123020075 single base substitution G T downstream_gene_variant BRCA-EU X 123020075 123020075 single base substitution G T intron_variant BRCA-EU X 123020075 123020075 single base substitution G T missense_variant G188V 563G>T BRCA-EU X 123021010 123021010 single base substitution C G downstream_gene_variant BRCA-EU X 123021010 123021010 single base substitution C G intron_variant BRCA-EU X 123021119 123021119 single base substitution C T downstream_gene_variant BRCA-EU X 123021119 123021119 single base substitution C T intron_variant BRCA-EU X 123021210 123021210 single base substitution C T downstream_gene_variant BRCA-EU X 123021210 123021210 single base substitution C T intron_variant BRCA-EU X 123021361 123021361 single base substitution A T downstream_gene_variant BRCA-EU X 123021361 123021361 single base substitution A T intron_variant BRCA-EU X 123021555 123021555 single base substitution C T downstream_gene_variant BRCA-EU X 123021555 123021555 single base substitution C T intron_variant BRCA-EU X 123022104 123022104 single base substitution G C downstream_gene_variant BRCA-EU X 123022104 123022104 single base substitution G C intron_variant BRCA-EU X 123022564 123022564 single base substitution C T downstream_gene_variant BRCA-EU X 123022564 123022564 single base substitution C T exon_variant BRCA-EU X 123022564 123022564 single base substitution C T missense_variant P325S 973C>T BRCA-EU X 123023577 123023577 single base substitution C T downstream_gene_variant BRCA-EU X 123023577 123023577 single base substitution C T intron_variant BRCA-EU X 123023782 123023800 deletion of <=200bp GAAGCCATCATACCCCTAG - downstream_gene_variant BRCA-EU X 123023782 123023800 deletion of <=200bp GAAGCCATCATACCCCTAG - intron_variant BRCA-EU X 123024803 123024803 single base substitution A T downstream_gene_variant BRCA-EU X 123024803 123024803 single base substitution A T intron_variant BRCA-EU X 123024811 123024811 single base substitution A G downstream_gene_variant BRCA-EU X 123024811 123024811 single base substitution A G intron_variant BRCA-EU X 123024887 123024887 single base substitution T C downstream_gene_variant BRCA-EU X 123024887 123024887 single base substitution T C intron_variant BRCA-EU X 123025810 123025810 single base substitution T C downstream_gene_variant BRCA-EU X 123025810 123025810 single base substitution T C intron_variant BRCA-EU X 123026174 123026174 single base substitution G A downstream_gene_variant BRCA-EU X 123026174 123026174 single base substitution G A intron_variant BRCA-EU X 123026335 123026335 single base substitution G A downstream_gene_variant BRCA-EU X 123026335 123026335 single base substitution G A intron_variant BRCA-EU X 123027025 123027025 single base substitution C T downstream_gene_variant BRCA-EU X 123027025 123027025 single base substitution C T intron_variant BRCA-EU X 123028993 123028993 single base substitution C T intron_variant BRCA-EU X 123029017 123029017 single base substitution C A intron_variant BRCA-EU X 123029714 123029714 single base substitution C T intron_variant BRCA-EU X 123030597 123030597 single base substitution A T intron_variant BRCA-EU X 123031185 123031185 single base substitution G T intron_variant BRCA-EU X 123032425 123032425 single base substitution A T intron_variant BRCA-EU X 123033251 123033252 deletion of <=200bp AT - intron_variant BRCA-EU X 123033368 123033368 single base substitution C T intron_variant BRCA-EU X 123033549 123033549 single base substitution C T intron_variant BRCA-EU X 123035357 123035357 single base substitution T A downstream_gene_variant BRCA-EU X 123035357 123035357 single base substitution T A intron_variant BRCA-EU X 123035421 123035421 single base substitution G A downstream_gene_variant BRCA-EU X 123035421 123035421 single base substitution G A intron_variant BRCA-EU X 123035446 123035446 single base substitution G C downstream_gene_variant BRCA-EU X 123035446 123035446 single base substitution G C intron_variant BRCA-EU X 123035985 123035988 deletion of <=200bp TTGT - downstream_gene_variant BRCA-EU X 123035985 123035988 deletion of <=200bp TTGT - intron_variant BRCA-EU X 123036484 123036484 single base substitution C G downstream_gene_variant BRCA-EU X 123036484 123036484 single base substitution C G intron_variant BRCA-EU X 123038114 123038114 single base substitution C T downstream_gene_variant BRCA-EU X 123038114 123038114 single base substitution C T intron_variant BRCA-EU X 123038122 123038122 single base substitution C T downstream_gene_variant BRCA-EU X 123038122 123038122 single base substitution C T intron_variant BRCA-EU X 123038371 123038371 single base substitution G T downstream_gene_variant BRCA-EU X 123038371 123038371 single base substitution G T intron_variant BRCA-EU X 123040496 123040496 single base substitution C A intron_variant BRCA-EU X 123041390 123041390 single base substitution G C 3_prime_UTR_variant BRCA-EU X 123041390 123041390 single base substitution G C downstream_gene_variant BRCA-EU X 123041803 123041803 single base substitution C T 3_prime_UTR_variant BRCA-EU X 123041803 123041803 single base substitution C T downstream_gene_variant BRCA-EU X 123041803 123041803 single base substitution C T upstream_gene_variant BRCA-EU X 123041825 123041825 single base substitution G T 3_prime_UTR_variant BRCA-EU X 123041825 123041825 single base substitution G T downstream_gene_variant BRCA-EU X 123041825 123041825 single base substitution G T upstream_gene_variant BRCA-EU X 123042459 123042459 single base substitution T G 3_prime_UTR_variant BRCA-EU X 123042459 123042459 single base substitution T G downstream_gene_variant BRCA-EU X 123042459 123042459 single base substitution T G upstream_gene_variant BRCA-EU X 123044364 123044364 single base substitution G C 3_prime_UTR_variant BRCA-EU X 123044364 123044364 single base substitution G C downstream_gene_variant BRCA-EU X 123044364 123044364 single base substitution G C upstream_gene_variant BRCA-EU X 123044399 123044399 insertion of <=200bp - TA 3_prime_UTR_variant BRCA-EU X 123044399 123044399 insertion of <=200bp - TA downstream_gene_variant BRCA-EU X 123044399 123044399 insertion of <=200bp - TA upstream_gene_variant BRCA-EU X 123044535 123044535 single base substitution C T 3_prime_UTR_variant BRCA-EU X 123044535 123044535 single base substitution C T downstream_gene_variant BRCA-EU X 123044535 123044535 single base substitution C T upstream_gene_variant BRCA-EU X 123044735 123044735 single base substitution A T 3_prime_UTR_variant BRCA-EU X 123044735 123044735 single base substitution A T downstream_gene_variant BRCA-EU X 123044735 123044735 single base substitution A T upstream_gene_variant BRCA-EU X 123045241 123045241 single base substitution C T 3_prime_UTR_variant BRCA-EU X 123045241 123045241 single base substitution C T downstream_gene_variant BRCA-EU X 123045241 123045241 single base substitution C T upstream_gene_variant BRCA-EU X 123045436 123045436 single base substitution G A 3_prime_UTR_variant BRCA-EU X 123045436 123045436 single base substitution G A downstream_gene_variant BRCA-EU X 123045436 123045436 single base substitution G A upstream_gene_variant BRCA-EU X 123045982 123045982 single base substitution A G 3_prime_UTR_variant BRCA-EU X 123045982 123045982 single base substitution A G downstream_gene_variant BRCA-EU X 123045982 123045982 single base substitution A G upstream_gene_variant BRCA-EU X 123046388 123046388 single base substitution G A 3_prime_UTR_variant BRCA-EU X 123046388 123046388 single base substitution G A upstream_gene_variant BRCA-EU X 123046776 123046776 single base substitution G C 3_prime_UTR_variant BRCA-EU X 123046776 123046776 single base substitution G C exon_variant BRCA-EU X 123047307 123047307 single base substitution G A 3_prime_UTR_variant BRCA-EU X 123047307 123047307 single base substitution G A exon_variant BRCA-EU X 123047568 123047568 insertion of <=200bp - T 3_prime_UTR_variant BRCA-EU X 123047568 123047568 insertion of <=200bp - T downstream_gene_variant BRCA-EU X 123049058 123049058 single base substitution A T downstream_gene_variant BRCA-EU X 123049155 123049155 single base substitution G C downstream_gene_variant BRCA-EU X 123049832 123049832 single base substitution C T downstream_gene_variant BRCA-EU X 123050570 123050570 single base substitution G T downstream_gene_variant BRCA-EU X 123050994 123050994 single base substitution C G downstream_gene_variant BRCA-EU X 123051398 123051398 single base substitution G A downstream_gene_variant BRCA-FR X 122992579 122992579 single base substitution G C upstream_gene_variant BRCA-FR X 122993726 122993726 single base substitution G A 5_prime_UTR_variant BRCA-FR X 122993726 122993726 single base substitution G A exon_variant BRCA-FR X 122993726 122993726 single base substitution G A upstream_gene_variant BRCA-FR X 122996067 122996067 single base substitution C T intron_variant BRCA-FR X 122996674 122996674 single base substitution C T intron_variant BRCA-FR X 122997122 122997122 single base substitution G A intron_variant BRCA-FR X 123012862 123012862 single base substitution G C intron_variant BRCA-FR X 123016118 123016118 single base substitution G C intron_variant BRCA-FR X 123024803 123024803 single base substitution A T downstream_gene_variant BRCA-FR X 123024803 123024803 single base substitution A T intron_variant BRCA-FR X 123028938 123028938 single base substitution C T intron_variant BRCA-FR X 123038122 123038122 single base substitution C T downstream_gene_variant BRCA-FR X 123038122 123038122 single base substitution C T intron_variant BRCA-FR X 123046388 123046388 single base substitution G A 3_prime_UTR_variant BRCA-FR X 123046388 123046388 single base substitution G A upstream_gene_variant BRCA-FR X 123047307 123047307 single base substitution G A 3_prime_UTR_variant BRCA-FR X 123047307 123047307 single base substitution G A exon_variant BRCA-UK X 122992740 122992740 single base substitution G A upstream_gene_variant BRCA-UK X 123003410 123003410 single base substitution C T intron_variant BRCA-UK X 123004983 123004983 single base substitution G A intron_variant BRCA-UK X 123019781 123019781 single base substitution G A downstream_gene_variant BRCA-UK X 123019781 123019781 single base substitution G A intron_variant BRCA-UK X 123019781 123019781 single base substitution G A missense_variant C90Y 269G>A BRCA-US X 123019797 123019797 single base substitution C A downstream_gene_variant BRCA-US X 123019797 123019797 single base substitution C A intron_variant BRCA-US X 123019797 123019797 single base substitution C A synonymous_variant G95G 285C>A BRCA-US X 123019870 123019870 single base substitution T A downstream_gene_variant BRCA-US X 123019870 123019870 single base substitution T A intron_variant BRCA-US X 123019870 123019870 single base substitution T A missense_variant Y120N 358T>A BRCA-US X 123020211 123020211 single base substitution G A downstream_gene_variant BRCA-US X 123020211 123020211 single base substitution G A intron_variant BRCA-US X 123020211 123020211 single base substitution G A synonymous_variant R233R 699G>A BRCA-US X 123040998 123040998 single base substitution C G downstream_gene_variant BRCA-US X 123040998 123040998 single base substitution C G exon_variant BRCA-US X 123040998 123040998 single base substitution C G synonymous_variant V487V 1461C>G BTCA-JP X 123026582 123026582 single base substitution T C downstream_gene_variant BTCA-JP X 123026582 123026582 single base substitution T C missense_variant V353A 1058T>C BTCA-JP X 123026582 123026582 single base substitution T C splice_region_variant BTCA-JP X 123040876 123040876 single base substitution G C downstream_gene_variant BTCA-JP X 123040876 123040876 single base substitution G C exon_variant BTCA-JP X 123040876 123040876 single base substitution G C missense_variant E447Q 1339G>C CESC-US X 123025119 123025119 single base substitution G T downstream_gene_variant CESC-US X 123025119 123025119 single base substitution G T exon_variant CESC-US X 123025119 123025119 single base substitution G T intron_variant CESC-US X 123025119 123025119 single base substitution G T stop_gained E337* 1009G>T CLLE-ES X 122996744 122996744 single base substitution C T intron_variant CLLE-ES X 123030973 123030973 single base substitution G T intron_variant CLLE-ES X 123031226 123031226 single base substitution T C intron_variant CLLE-ES X 123032216 123032216 single base substitution T C intron_variant CLLE-ES X 123033036 123033036 insertion of <=200bp - TG intron_variant CLLE-ES X 123042962 123042962 single base substitution T G 3_prime_UTR_variant CLLE-ES X 123042962 123042962 single base substitution T G downstream_gene_variant CLLE-ES X 123042962 123042962 single base substitution T G upstream_gene_variant CLLE-ES X 123047668 123047668 single base substitution G C 3_prime_UTR_variant CLLE-ES X 123047668 123047668 single base substitution G C downstream_gene_variant CLLE-ES X 123047728 123047728 single base substitution T C 3_prime_UTR_variant CLLE-ES X 123047728 123047728 single base substitution T C downstream_gene_variant COAD-US X 123019514 123019514 single base substitution T C intron_variant COAD-US X 123019514 123019514 single base substitution T C start_lost M1T 2T>C COAD-US X 123019859 123019859 single base substitution A G downstream_gene_variant COAD-US X 123019859 123019859 single base substitution A G intron_variant COAD-US X 123019859 123019859 single base substitution A G missense_variant K116R 347A>G COAD-US X 123020048 123020048 single base substitution T C downstream_gene_variant COAD-US X 123020048 123020048 single base substitution T C intron_variant COAD-US X 123020048 123020048 single base substitution T C missense_variant L179P 536T>C COAD-US X 123034388 123034388 single base substitution T C exon_variant COAD-US X 123034388 123034388 single base substitution T C missense_variant M382T 1145T>C COAD-US X 123034511 123034511 single base substitution A C downstream_gene_variant COAD-US X 123034511 123034511 single base substitution A C exon_variant COAD-US X 123034511 123034511 single base substitution A C missense_variant Q423P 1268A>C COAD-US X 123041016 123041016 single base substitution A C downstream_gene_variant COAD-US X 123041016 123041016 single base substitution A C exon_variant COAD-US X 123041016 123041016 single base substitution A C missense_variant K493N 1479A>C COAD-US X 123041019 123041019 single base substitution T G downstream_gene_variant COAD-US X 123041019 123041019 single base substitution T G exon_variant COAD-US X 123041019 123041019 single base substitution T G missense_variant I494M 1482T>G COCA-CN X 123019667 123019667 single base substitution T C downstream_gene_variant COCA-CN X 123019667 123019667 single base substitution T C intron_variant COCA-CN X 123019667 123019667 single base substitution T C missense_variant F52S 155T>C COCA-CN X 123022499 123022499 single base substitution G A downstream_gene_variant COCA-CN X 123022499 123022499 single base substitution G A exon_variant COCA-CN X 123022499 123022499 single base substitution G A missense_variant C303Y 908G>A COCA-CN X 123040865 123040865 single base substitution G A downstream_gene_variant COCA-CN X 123040865 123040865 single base substitution G A exon_variant COCA-CN X 123040865 123040865 single base substitution G A missense_variant R443H 1328G>A COCA-CN X 123045099 123045099 single base substitution G A 3_prime_UTR_variant COCA-CN X 123045099 123045099 single base substitution G A downstream_gene_variant COCA-CN X 123045099 123045099 single base substitution G A upstream_gene_variant ESCA-CN X 123040911 123040911 single base substitution T C downstream_gene_variant ESCA-CN X 123040911 123040911 single base substitution T C exon_variant ESCA-CN X 123040911 123040911 single base substitution T C synonymous_variant I458I 1374T>C ESCA-CN X 123040927 123040927 single base substitution C T downstream_gene_variant ESCA-CN X 123040927 123040927 single base substitution C T exon_variant ESCA-CN X 123040927 123040927 single base substitution C T missense_variant P464S 1390C>T KIRC-US X 123020288 123020288 single base substitution A G downstream_gene_variant KIRC-US X 123020288 123020288 single base substitution A G intron_variant KIRC-US X 123020288 123020288 single base substitution A G missense_variant N259S 776A>G KIRC-US X 123025168 123025168 single base substitution T C downstream_gene_variant KIRC-US X 123025168 123025168 single base substitution T C intron_variant KIRC-US X 123025168 123025168 single base substitution T C splice_donor_variant LAML-KR X 123013761 123013761 single base substitution G A intron_variant LAML-KR X 123017136 123017136 single base substitution G T intron_variant LAML-KR X 123048320 123048320 single base substitution G T downstream_gene_variant LGG-US X 123020096 123020096 single base substitution G C downstream_gene_variant LGG-US X 123020096 123020096 single base substitution G C intron_variant LGG-US X 123020096 123020096 single base substitution G C missense_variant G195A 584G>C LGG-US X 123034427 123034427 single base substitution A G downstream_gene_variant LGG-US X 123034427 123034427 single base substitution A G exon_variant LGG-US X 123034427 123034427 single base substitution A G missense_variant E395G 1184A>G LICA-CN X 123019783 123019783 single base substitution A T downstream_gene_variant LICA-CN X 123019783 123019783 single base substitution A T intron_variant LICA-CN X 123019783 123019783 single base substitution A T stop_gained R91* 271A>T LICA-FR X 122988623 122988623 single base substitution A C upstream_gene_variant LICA-FR X 122998305 122998305 single base substitution G T intron_variant LICA-FR X 123000651 123000651 single base substitution C G intron_variant LICA-FR X 123012262 123012262 single base substitution C A intron_variant LICA-FR X 123028484 123028484 single base substitution G T intron_variant LINC-JP X 122998858 122998858 single base substitution G T intron_variant LINC-JP X 123004421 123004421 single base substitution A T intron_variant LINC-JP X 123010072 123010073 deletion of <=200bp TT - intron_variant LINC-JP X 123019644 123019644 single base substitution A G downstream_gene_variant LINC-JP X 123019644 123019644 single base substitution A G intron_variant LINC-JP X 123019644 123019644 single base substitution A G synonymous_variant A44A 132A>G LINC-JP X 123020005 123020005 single base substitution G T downstream_gene_variant LINC-JP X 123020005 123020005 single base substitution G T intron_variant LINC-JP X 123020005 123020005 single base substitution G T missense_variant A165S 493G>T LINC-JP X 123022832 123022832 single base substitution A G downstream_gene_variant LINC-JP X 123022832 123022832 single base substitution A G intron_variant LINC-JP X 123024806 123024806 single base substitution T A downstream_gene_variant LINC-JP X 123024806 123024806 single base substitution T A intron_variant LINC-JP X 123034712 123034712 single base substitution A G downstream_gene_variant LINC-JP X 123034712 123034712 single base substitution A G intron_variant LIRI-JP X 122990813 122990813 single base substitution G A upstream_gene_variant LIRI-JP X 122991668 122991668 single base substitution T A upstream_gene_variant LIRI-JP X 122991784 122991784 single base substitution T C upstream_gene_variant LIRI-JP X 122995417 122995417 single base substitution G T intron_variant LIRI-JP X 123003825 123003825 single base substitution A T intron_variant LIRI-JP X 123004530 123004530 single base substitution C T intron_variant LIRI-JP X 123004562 123004562 single base substitution C T intron_variant LIRI-JP X 123005236 123005236 single base substitution T G intron_variant LIRI-JP X 123007265 123007265 single base substitution C T intron_variant LIRI-JP X 123008609 123008609 single base substitution A G intron_variant LIRI-JP X 123010678 123010678 single base substitution A G intron_variant LIRI-JP X 123012094 123012094 single base substitution G A intron_variant LIRI-JP X 123018134 123018134 single base substitution G C intron_variant LIRI-JP X 123024715 123024715 single base substitution C T downstream_gene_variant LIRI-JP X 123024715 123024715 single base substitution C T intron_variant LIRI-JP X 123025768 123025768 single base substitution T G downstream_gene_variant LIRI-JP X 123025768 123025768 single base substitution T G intron_variant LIRI-JP X 123028209 123028209 single base substitution G A intron_variant LIRI-JP X 123029204 123029204 single base substitution G A intron_variant LIRI-JP X 123029925 123029925 single base substitution T A intron_variant LIRI-JP X 123035462 123035463 deletion of <=200bp AA - downstream_gene_variant LIRI-JP X 123035462 123035463 deletion of <=200bp AA - intron_variant LIRI-JP X 123036681 123036681 single base substitution A G downstream_gene_variant LIRI-JP X 123036681 123036681 single base substitution A G intron_variant LIRI-JP X 123040682 123040682 single base substitution G A intron_variant LIRI-JP X 123041286 123041286 single base substitution A G 3_prime_UTR_variant LIRI-JP X 123041286 123041286 single base substitution A G downstream_gene_variant LIRI-JP X 123041998 123041998 single base substitution C T 3_prime_UTR_variant LIRI-JP X 123041998 123041998 single base substitution C T downstream_gene_variant LIRI-JP X 123041998 123041998 single base substitution C T upstream_gene_variant LIRI-JP X 123042162 123042162 single base substitution C G 3_prime_UTR_variant LIRI-JP X 123042162 123042162 single base substitution C G downstream_gene_variant LIRI-JP X 123042162 123042162 single base substitution C G upstream_gene_variant LIRI-JP X 123043380 123043380 single base substitution T A 3_prime_UTR_variant LIRI-JP X 123043380 123043380 single base substitution T A downstream_gene_variant LIRI-JP X 123043380 123043380 single base substitution T A upstream_gene_variant LIRI-JP X 123049056 123049056 deletion of <=200bp A - downstream_gene_variant LIRI-JP X 123051487 123051487 deletion of <=200bp G - downstream_gene_variant LUSC-KR X 122988970 122988970 single base substitution G T upstream_gene_variant LUSC-KR X 122991558 122991558 single base substitution G C upstream_gene_variant LUSC-KR X 122992233 122992233 single base substitution G A upstream_gene_variant LUSC-KR X 123005676 123005676 single base substitution G C intron_variant LUSC-KR X 123009613 123009613 single base substitution G C intron_variant LUSC-KR X 123011390 123011390 single base substitution T G intron_variant LUSC-KR X 123013211 123013211 single base substitution G T intron_variant LUSC-KR X 123018232 123018232 single base substitution G T intron_variant LUSC-KR X 123022553 123022553 single base substitution C G downstream_gene_variant LUSC-KR X 123022553 123022553 single base substitution C G exon_variant LUSC-KR X 123022553 123022553 single base substitution C G missense_variant A321G 962C>G LUSC-KR X 123034511 123034511 single base substitution A C downstream_gene_variant LUSC-KR X 123034511 123034511 single base substitution A C exon_variant LUSC-KR X 123034511 123034511 single base substitution A C missense_variant Q423P 1268A>C LUSC-KR X 123040128 123040128 single base substitution G A intron_variant LUSC-KR X 123040663 123040663 single base substitution T C intron_variant LUSC-KR X 123040729 123040729 single base substitution C T intron_variant LUSC-KR X 123041043 123041043 single base substitution A G 3_prime_UTR_variant LUSC-KR X 123041043 123041043 single base substitution A G downstream_gene_variant LUSC-KR X 123041043 123041043 single base substitution A G exon_variant LUSC-KR X 123042424 123042424 single base substitution G A 3_prime_UTR_variant LUSC-KR X 123042424 123042424 single base substitution G A downstream_gene_variant LUSC-KR X 123042424 123042424 single base substitution G A upstream_gene_variant LUSC-KR X 123042707 123042707 single base substitution T C 3_prime_UTR_variant LUSC-KR X 123042707 123042707 single base substitution T C downstream_gene_variant LUSC-KR X 123042707 123042707 single base substitution T C upstream_gene_variant LUSC-KR X 123043705 123043705 single base substitution A C 3_prime_UTR_variant LUSC-KR X 123043705 123043705 single base substitution A C downstream_gene_variant LUSC-KR X 123043705 123043705 single base substitution A C upstream_gene_variant LUSC-KR X 123043876 123043876 single base substitution C T 3_prime_UTR_variant LUSC-KR X 123043876 123043876 single base substitution C T downstream_gene_variant LUSC-KR X 123043876 123043876 single base substitution C T upstream_gene_variant LUSC-KR X 123044414 123044414 single base substitution T C 3_prime_UTR_variant LUSC-KR X 123044414 123044414 single base substitution T C downstream_gene_variant LUSC-KR X 123044414 123044414 single base substitution T C upstream_gene_variant LUSC-KR X 123045046 123045046 single base substitution A G 3_prime_UTR_variant LUSC-KR X 123045046 123045046 single base substitution A G downstream_gene_variant LUSC-KR X 123045046 123045046 single base substitution A G upstream_gene_variant LUSC-KR X 123045109 123045109 single base substitution C A 3_prime_UTR_variant LUSC-KR X 123045109 123045109 single base substitution C A downstream_gene_variant LUSC-KR X 123045109 123045109 single base substitution C A upstream_gene_variant LUSC-KR X 123045915 123045915 single base substitution C T 3_prime_UTR_variant LUSC-KR X 123045915 123045915 single base substitution C T downstream_gene_variant LUSC-KR X 123045915 123045915 single base substitution C T upstream_gene_variant LUSC-KR X 123047668 123047668 single base substitution G C 3_prime_UTR_variant LUSC-KR X 123047668 123047668 single base substitution G C downstream_gene_variant LUSC-KR X 123047926 123047926 single base substitution G T downstream_gene_variant LUSC-KR X 123050287 123050287 single base substitution A T downstream_gene_variant LUSC-US X 123019782 123019782 single base substitution C A downstream_gene_variant LUSC-US X 123019782 123019782 single base substitution C A intron_variant LUSC-US X 123019782 123019782 single base substitution C A stop_gained C90* 270C>A LUSC-US X 123019959 123019959 single base substitution A G downstream_gene_variant LUSC-US X 123019959 123019959 single base substitution A G intron_variant LUSC-US X 123019959 123019959 single base substitution A G missense_variant I149M 447A>G LUSC-US X 123020331 123020331 single base substitution G A downstream_gene_variant LUSC-US X 123020331 123020331 single base substitution G A intron_variant LUSC-US X 123020331 123020331 single base substitution G A synonymous_variant G273G 819G>A LUSC-US X 123034381 123034381 single base substitution A G exon_variant LUSC-US X 123034381 123034381 single base substitution A G missense_variant I380V 1138A>G LUSC-US X 123034478 123034478 single base substitution C T downstream_gene_variant LUSC-US X 123034478 123034478 single base substitution C T exon_variant LUSC-US X 123034478 123034478 single base substitution C T missense_variant A412V 1235C>T LUSC-US X 123040952 123040952 single base substitution A G downstream_gene_variant LUSC-US X 123040952 123040952 single base substitution A G exon_variant LUSC-US X 123040952 123040952 single base substitution A G missense_variant K472R 1415A>G MALY-DE X 122988581 122988581 single base substitution G T upstream_gene_variant MALY-DE X 122989855 122989855 single base substitution A T upstream_gene_variant MALY-DE X 122994348 122994348 single base substitution T C 5_prime_UTR_variant MALY-DE X 122994348 122994348 single base substitution T C exon_variant MALY-DE X 122994348 122994348 single base substitution T C intron_variant MALY-DE X 122996562 122996562 single base substitution G A intron_variant MALY-DE X 122996718 122996718 single base substitution A T intron_variant MALY-DE X 123002594 123002594 single base substitution C T intron_variant MALY-DE X 123007749 123007749 single base substitution A T intron_variant MALY-DE X 123017747 123017747 single base substitution C A intron_variant MALY-DE X 123019577 123019577 single base substitution A T downstream_gene_variant MALY-DE X 123019577 123019577 single base substitution A T intron_variant MALY-DE X 123019577 123019577 single base substitution A T missense_variant E22V 65A>T MALY-DE X 123021844 123021844 single base substitution T A downstream_gene_variant MALY-DE X 123021844 123021844 single base substitution T A intron_variant MALY-DE X 123024816 123024816 single base substitution C A downstream_gene_variant MALY-DE X 123024816 123024816 single base substitution C A intron_variant MALY-DE X 123027955 123027955 single base substitution G A intron_variant MALY-DE X 123032003 123032003 single base substitution C T intron_variant MALY-DE X 123032216 123032216 insertion of <=200bp - T intron_variant MALY-DE X 123037869 123037869 single base substitution C A downstream_gene_variant MALY-DE X 123037869 123037869 single base substitution C A intron_variant MALY-DE X 123039633 123039633 single base substitution A C intron_variant MALY-DE X 123039941 123039941 single base substitution A C intron_variant MALY-DE X 123041809 123041809 insertion of <=200bp - G 3_prime_UTR_variant MALY-DE X 123041809 123041809 insertion of <=200bp - G downstream_gene_variant MALY-DE X 123041809 123041809 insertion of <=200bp - G upstream_gene_variant MALY-DE X 123042451 123042451 single base substitution C A 3_prime_UTR_variant MALY-DE X 123042451 123042451 single base substitution C A downstream_gene_variant MALY-DE X 123042451 123042451 single base substitution C A upstream_gene_variant MALY-DE X 123047712 123047712 single base substitution T A 3_prime_UTR_variant MALY-DE X 123047712 123047712 single base substitution T A downstream_gene_variant MALY-DE X 123047713 123047713 single base substitution G T 3_prime_UTR_variant MALY-DE X 123047713 123047713 single base substitution G T downstream_gene_variant MALY-DE X 123048985 123048985 single base substitution A G downstream_gene_variant MALY-DE X 123052669 123052669 insertion of <=200bp - A downstream_gene_variant MELA-AU X 122988702 122988702 single base substitution C T upstream_gene_variant MELA-AU X 122989165 122989165 single base substitution G A upstream_gene_variant MELA-AU X 122989488 122989488 single base substitution C T upstream_gene_variant MELA-AU X 122990087 122990087 single base substitution G A upstream_gene_variant MELA-AU X 122990789 122990789 single base substitution C T upstream_gene_variant MELA-AU X 122991785 122991785 single base substitution G A upstream_gene_variant MELA-AU X 122991986 122991986 single base substitution G A upstream_gene_variant MELA-AU X 122992231 122992231 single base substitution T C upstream_gene_variant MELA-AU X 122992391 122992391 single base substitution G A upstream_gene_variant MELA-AU X 122992771 122992771 single base substitution G A upstream_gene_variant MELA-AU X 122993479 122993479 single base substitution G A upstream_gene_variant MELA-AU X 122994676 122994677 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 122994830 122994830 single base substitution A T intron_variant MELA-AU X 122995176 122995176 single base substitution C T intron_variant MELA-AU X 122996163 122996164 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 122996261 122996261 single base substitution T A intron_variant MELA-AU X 122996345 122996346 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 122997230 122997230 single base substitution G A intron_variant MELA-AU X 122997383 122997383 single base substitution G A intron_variant MELA-AU X 122998089 122998089 single base substitution C T intron_variant MELA-AU X 122999288 122999288 single base substitution T C intron_variant MELA-AU X 122999501 122999501 single base substitution G T intron_variant MELA-AU X 122999543 122999543 single base substitution C T intron_variant MELA-AU X 122999987 122999987 single base substitution C T intron_variant MELA-AU X 123000678 123000678 single base substitution T C intron_variant MELA-AU X 123001023 123001023 single base substitution C T intron_variant MELA-AU X 123001771 123001771 single base substitution C T intron_variant MELA-AU X 123002282 123002282 single base substitution C T intron_variant MELA-AU X 123002672 123002672 single base substitution G A intron_variant MELA-AU X 123002915 123002915 single base substitution T G intron_variant MELA-AU X 123003162 123003162 single base substitution C T intron_variant MELA-AU X 123003258 123003258 single base substitution C T intron_variant MELA-AU X 123004685 123004685 single base substitution G A intron_variant MELA-AU X 123005018 123005018 single base substitution C T intron_variant MELA-AU X 123005105 123005105 single base substitution C T intron_variant MELA-AU X 123006026 123006026 single base substitution G A intron_variant MELA-AU X 123006211 123006211 single base substitution C T intron_variant MELA-AU X 123007071 123007071 single base substitution G T intron_variant MELA-AU X 123007575 123007575 single base substitution G A intron_variant MELA-AU X 123008087 123008087 single base substitution C T intron_variant MELA-AU X 123008452 123008452 single base substitution A T intron_variant MELA-AU X 123008878 123008878 single base substitution T A intron_variant MELA-AU X 123008995 123008995 single base substitution C T intron_variant MELA-AU X 123008997 123008997 single base substitution C T intron_variant MELA-AU X 123010008 123010008 single base substitution C T intron_variant MELA-AU X 123010530 123010530 single base substitution G T intron_variant MELA-AU X 123010680 123010680 single base substitution C T intron_variant MELA-AU X 123010765 123010765 single base substitution C T intron_variant MELA-AU X 123011940 123011940 single base substitution C T intron_variant MELA-AU X 123011988 123011988 single base substitution C T intron_variant MELA-AU X 123012262 123012262 single base substitution C T intron_variant MELA-AU X 123013277 123013277 single base substitution C T intron_variant MELA-AU X 123014249 123014249 single base substitution G A intron_variant MELA-AU X 123014352 123014352 single base substitution C T intron_variant MELA-AU X 123014353 123014353 single base substitution G A intron_variant MELA-AU X 123014495 123014495 single base substitution G A intron_variant MELA-AU X 123015056 123015056 single base substitution C T intron_variant MELA-AU X 123015717 123015717 single base substitution C T intron_variant MELA-AU X 123016133 123016133 single base substitution C T intron_variant MELA-AU X 123016212 123016212 single base substitution C T intron_variant MELA-AU X 123016310 123016310 single base substitution C T intron_variant MELA-AU X 123016351 123016351 single base substitution C T intron_variant MELA-AU X 123019515 123019515 single base substitution G A intron_variant MELA-AU X 123019515 123019515 single base substitution G A start_lost M1I 3G>A MELA-AU X 123019624 123019624 single base substitution A T downstream_gene_variant MELA-AU X 123019624 123019624 single base substitution A T intron_variant MELA-AU X 123019624 123019624 single base substitution A T missense_variant S38C 112A>T MELA-AU X 123020355 123020356 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU X 123020355 123020356 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 123020355 123020356 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant KE281KK MELA-AU X 123020840 123020840 single base substitution G C downstream_gene_variant MELA-AU X 123020840 123020840 single base substitution G C intron_variant MELA-AU X 123021870 123021870 single base substitution A G downstream_gene_variant MELA-AU X 123021870 123021870 single base substitution A G intron_variant MELA-AU X 123021896 123021896 single base substitution A G downstream_gene_variant MELA-AU X 123021896 123021896 single base substitution A G intron_variant MELA-AU X 123022178 123022178 single base substitution C T downstream_gene_variant MELA-AU X 123022178 123022178 single base substitution C T intron_variant MELA-AU X 123023576 123023577 multiple base substitution (>=2bp and <=200bp) TC CT downstream_gene_variant MELA-AU X 123023576 123023577 multiple base substitution (>=2bp and <=200bp) TC CT intron_variant MELA-AU X 123025821 123025821 single base substitution C T downstream_gene_variant MELA-AU X 123025821 123025821 single base substitution C T intron_variant MELA-AU X 123026734 123026734 single base substitution G A downstream_gene_variant MELA-AU X 123026734 123026734 single base substitution G A intron_variant MELA-AU X 123027286 123027286 single base substitution T C downstream_gene_variant MELA-AU X 123027286 123027286 single base substitution T C intron_variant MELA-AU X 123027497 123027497 single base substitution C T downstream_gene_variant MELA-AU X 123027497 123027497 single base substitution C T intron_variant MELA-AU X 123027779 123027779 single base substitution A C intron_variant MELA-AU X 123028845 123028845 single base substitution A G intron_variant MELA-AU X 123029357 123029357 single base substitution A C intron_variant MELA-AU X 123030459 123030459 single base substitution C T intron_variant MELA-AU X 123030970 123030971 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 123031374 123031374 single base substitution G A intron_variant MELA-AU X 123031552 123031552 single base substitution A T intron_variant MELA-AU X 123031970 123031970 single base substitution C T intron_variant MELA-AU X 123032311 123032311 single base substitution C T intron_variant MELA-AU X 123032389 123032389 single base substitution T C intron_variant MELA-AU X 123032866 123032866 single base substitution G A intron_variant MELA-AU X 123034322 123034322 single base substitution C T intron_variant MELA-AU X 123034350 123034350 single base substitution C T exon_variant MELA-AU X 123034350 123034350 single base substitution C T synonymous_variant T369T 1107C>T MELA-AU X 123034704 123034704 single base substitution C T downstream_gene_variant MELA-AU X 123034704 123034704 single base substitution C T intron_variant MELA-AU X 123034803 123034803 single base substitution C T downstream_gene_variant MELA-AU X 123034803 123034803 single base substitution C T intron_variant MELA-AU X 123034876 123034876 single base substitution A T downstream_gene_variant MELA-AU X 123034876 123034876 single base substitution A T intron_variant MELA-AU X 123035447 123035447 single base substitution A T downstream_gene_variant MELA-AU X 123035447 123035447 single base substitution A T intron_variant MELA-AU X 123035880 123035880 single base substitution C T downstream_gene_variant MELA-AU X 123035880 123035880 single base substitution C T intron_variant MELA-AU X 123035899 123035899 single base substitution G A downstream_gene_variant MELA-AU X 123035899 123035899 single base substitution G A intron_variant MELA-AU X 123037080 123037080 single base substitution C T downstream_gene_variant MELA-AU X 123037080 123037080 single base substitution C T intron_variant MELA-AU X 123037844 123037854 deletion of <=200bp CTCCCCATTCC - downstream_gene_variant MELA-AU X 123037844 123037854 deletion of <=200bp CTCCCCATTCC - intron_variant MELA-AU X 123038171 123038171 single base substitution G A downstream_gene_variant MELA-AU X 123038171 123038171 single base substitution G A intron_variant MELA-AU X 123038284 123038284 single base substitution C T downstream_gene_variant MELA-AU X 123038284 123038284 single base substitution C T intron_variant MELA-AU X 123039192 123039192 single base substitution C T downstream_gene_variant MELA-AU X 123039192 123039192 single base substitution C T intron_variant MELA-AU X 123039997 123039997 single base substitution T C intron_variant MELA-AU X 123040384 123040384 single base substitution C T intron_variant MELA-AU X 123041145 123041145 single base substitution G A 3_prime_UTR_variant MELA-AU X 123041145 123041145 single base substitution G A downstream_gene_variant MELA-AU X 123041207 123041207 single base substitution C T 3_prime_UTR_variant MELA-AU X 123041207 123041207 single base substitution C T downstream_gene_variant MELA-AU X 123041227 123041227 single base substitution C T 3_prime_UTR_variant MELA-AU X 123041227 123041227 single base substitution C T downstream_gene_variant MELA-AU X 123041632 123041632 single base substitution C T 3_prime_UTR_variant MELA-AU X 123041632 123041632 single base substitution C T downstream_gene_variant MELA-AU X 123041632 123041632 single base substitution C T upstream_gene_variant MELA-AU X 123041857 123041857 single base substitution C T 3_prime_UTR_variant MELA-AU X 123041857 123041857 single base substitution C T downstream_gene_variant MELA-AU X 123041857 123041857 single base substitution C T upstream_gene_variant MELA-AU X 123042177 123042177 single base substitution G A 3_prime_UTR_variant MELA-AU X 123042177 123042177 single base substitution G A downstream_gene_variant MELA-AU X 123042177 123042177 single base substitution G A upstream_gene_variant MELA-AU X 123043093 123043093 single base substitution C T 3_prime_UTR_variant MELA-AU X 123043093 123043093 single base substitution C T downstream_gene_variant MELA-AU X 123043093 123043093 single base substitution C T upstream_gene_variant MELA-AU X 123043266 123043266 single base substitution C T 3_prime_UTR_variant MELA-AU X 123043266 123043266 single base substitution C T downstream_gene_variant MELA-AU X 123043266 123043266 single base substitution C T upstream_gene_variant MELA-AU X 123043488 123043488 single base substitution C T 3_prime_UTR_variant MELA-AU X 123043488 123043488 single base substitution C T downstream_gene_variant MELA-AU X 123043488 123043488 single base substitution C T upstream_gene_variant MELA-AU X 123043569 123043569 single base substitution C A 3_prime_UTR_variant MELA-AU X 123043569 123043569 single base substitution C A downstream_gene_variant MELA-AU X 123043569 123043569 single base substitution C A upstream_gene_variant MELA-AU X 123043817 123043817 single base substitution C T 3_prime_UTR_variant MELA-AU X 123043817 123043817 single base substitution C T downstream_gene_variant MELA-AU X 123043817 123043817 single base substitution C T upstream_gene_variant MELA-AU X 123045125 123045125 single base substitution C T 3_prime_UTR_variant MELA-AU X 123045125 123045125 single base substitution C T downstream_gene_variant MELA-AU X 123045125 123045125 single base substitution C T upstream_gene_variant MELA-AU X 123045281 123045281 single base substitution C T 3_prime_UTR_variant MELA-AU X 123045281 123045281 single base substitution C T downstream_gene_variant MELA-AU X 123045281 123045281 single base substitution C T upstream_gene_variant MELA-AU X 123045334 123045334 single base substitution A G 3_prime_UTR_variant MELA-AU X 123045334 123045334 single base substitution A G downstream_gene_variant MELA-AU X 123045334 123045334 single base substitution A G upstream_gene_variant MELA-AU X 123045576 123045576 single base substitution G A 3_prime_UTR_variant MELA-AU X 123045576 123045576 single base substitution G A downstream_gene_variant MELA-AU X 123045576 123045576 single base substitution G A upstream_gene_variant MELA-AU X 123045834 123045834 single base substitution C T 3_prime_UTR_variant MELA-AU X 123045834 123045834 single base substitution C T downstream_gene_variant MELA-AU X 123045834 123045834 single base substitution C T upstream_gene_variant MELA-AU X 123045939 123045939 single base substitution C T 3_prime_UTR_variant MELA-AU X 123045939 123045939 single base substitution C T downstream_gene_variant MELA-AU X 123045939 123045939 single base substitution C T upstream_gene_variant MELA-AU X 123046827 123046827 single base substitution C T 3_prime_UTR_variant MELA-AU X 123046827 123046827 single base substitution C T exon_variant MELA-AU X 123047622 123047622 single base substitution A G 3_prime_UTR_variant MELA-AU X 123047622 123047622 single base substitution A G downstream_gene_variant MELA-AU X 123048281 123048281 single base substitution G A downstream_gene_variant MELA-AU X 123048429 123048429 single base substitution C T downstream_gene_variant MELA-AU X 123048584 123048584 single base substitution C T downstream_gene_variant MELA-AU X 123049167 123049167 single base substitution C T downstream_gene_variant MELA-AU X 123050060 123050060 single base substitution C T downstream_gene_variant MELA-AU X 123050093 123050093 single base substitution G A downstream_gene_variant MELA-AU X 123050232 123050232 single base substitution C T downstream_gene_variant MELA-AU X 123050856 123050856 single base substitution T G downstream_gene_variant MELA-AU X 123050879 123050879 single base substitution C T downstream_gene_variant MELA-AU X 123050962 123050962 single base substitution A C downstream_gene_variant MELA-AU X 123051420 123051420 single base substitution C T downstream_gene_variant MELA-AU X 123052182 123052182 deletion of <=200bp G - downstream_gene_variant MELA-AU X 123052275 123052275 single base substitution A G downstream_gene_variant OV-AU X 122989785 122989785 single base substitution T C upstream_gene_variant OV-AU X 122990936 122990936 single base substitution G C upstream_gene_variant OV-AU X 122990976 122990976 single base substitution A T upstream_gene_variant OV-AU X 122991305 122991305 single base substitution A C upstream_gene_variant OV-AU X 122991744 122991744 single base substitution A T upstream_gene_variant OV-AU X 122992709 122992709 single base substitution A T upstream_gene_variant OV-AU X 122998273 122998273 single base substitution G T intron_variant OV-AU X 123003670 123003670 single base substitution T G intron_variant OV-AU X 123005928 123005928 single base substitution T A intron_variant OV-AU X 123006943 123006943 single base substitution G A intron_variant OV-AU X 123014132 123014132 single base substitution G T intron_variant OV-AU X 123016878 123016878 single base substitution C T intron_variant OV-AU X 123017316 123017316 single base substitution A T intron_variant OV-AU X 123021553 123021553 single base substitution G T downstream_gene_variant OV-AU X 123021553 123021553 single base substitution G T intron_variant OV-AU X 123021790 123021790 single base substitution C T downstream_gene_variant OV-AU X 123021790 123021790 single base substitution C T intron_variant OV-AU X 123022614 123022614 single base substitution C T downstream_gene_variant OV-AU X 123022614 123022614 single base substitution C T intron_variant OV-AU X 123023227 123023227 single base substitution G A downstream_gene_variant OV-AU X 123023227 123023227 single base substitution G A intron_variant OV-AU X 123023422 123023422 single base substitution C G downstream_gene_variant OV-AU X 123023422 123023422 single base substitution C G intron_variant OV-AU X 123025088 123025088 single base substitution G A downstream_gene_variant OV-AU X 123025088 123025088 single base substitution G A intron_variant OV-AU X 123025088 123025088 single base substitution G A splice_region_variant OV-AU X 123027464 123027464 single base substitution A T downstream_gene_variant OV-AU X 123027464 123027464 single base substitution A T intron_variant OV-AU X 123028029 123028029 single base substitution G A intron_variant OV-AU X 123032476 123032476 single base substitution C T intron_variant OV-AU X 123032805 123032805 single base substitution C A intron_variant OV-AU X 123036022 123036022 single base substitution G A downstream_gene_variant OV-AU X 123036022 123036022 single base substitution G A intron_variant OV-AU X 123036028 123036028 single base substitution A T downstream_gene_variant OV-AU X 123036028 123036028 single base substitution A T intron_variant OV-AU X 123039928 123039928 single base substitution G T intron_variant OV-AU X 123041817 123041817 single base substitution T C 3_prime_UTR_variant OV-AU X 123041817 123041817 single base substitution T C downstream_gene_variant OV-AU X 123041817 123041817 single base substitution T C upstream_gene_variant OV-AU X 123044243 123044243 single base substitution T A 3_prime_UTR_variant OV-AU X 123044243 123044243 single base substitution T A downstream_gene_variant OV-AU X 123044243 123044243 single base substitution T A upstream_gene_variant OV-AU X 123045817 123045817 single base substitution T C 3_prime_UTR_variant OV-AU X 123045817 123045817 single base substitution T C downstream_gene_variant OV-AU X 123045817 123045817 single base substitution T C upstream_gene_variant OV-AU X 123046913 123046913 single base substitution G C 3_prime_UTR_variant OV-AU X 123046913 123046913 single base substitution G C intron_variant OV-AU X 123048306 123048306 single base substitution T C downstream_gene_variant OV-AU X 123050376 123050376 single base substitution G A downstream_gene_variant OV-US X 123020045 123020045 single base substitution A G downstream_gene_variant OV-US X 123020045 123020045 single base substitution A G intron_variant OV-US X 123020045 123020045 single base substitution A G missense_variant H178R 533A>G PACA-AU X 122994608 122994608 single base substitution A G intron_variant PACA-AU X 122996964 122996964 single base substitution T A intron_variant PACA-AU X 123004919 123004919 single base substitution G A intron_variant PACA-AU X 123004939 123004939 deletion of <=200bp T - intron_variant PACA-AU X 123007358 123007385 deletion of <=200bp CCAGGCACGGTGGCTCACGCCTGTAATC - intron_variant PACA-AU X 123007375 123007375 single base substitution C T intron_variant PACA-AU X 123010262 123010262 single base substitution G T intron_variant PACA-AU X 123010556 123010556 insertion of <=200bp - TAAATAAATAAA intron_variant PACA-AU X 123014806 123014806 single base substitution C T intron_variant PACA-AU X 123017559 123017559 single base substitution C T intron_variant PACA-AU X 123021837 123021837 deletion of <=200bp A - downstream_gene_variant PACA-AU X 123021837 123021837 deletion of <=200bp A - intron_variant PACA-AU X 123026664 123026664 insertion of <=200bp - ATTT downstream_gene_variant PACA-AU X 123026664 123026664 insertion of <=200bp - ATTT intron_variant PACA-AU X 123030696 123030696 single base substitution T C intron_variant PACA-AU X 123033039 123033039 single base substitution A G intron_variant PACA-AU X 123041818 123041818 single base substitution T G 3_prime_UTR_variant PACA-AU X 123041818 123041818 single base substitution T G downstream_gene_variant PACA-AU X 123041818 123041818 single base substitution T G upstream_gene_variant PACA-AU X 123043371 123043371 single base substitution G C 3_prime_UTR_variant PACA-AU X 123043371 123043371 single base substitution G C downstream_gene_variant PACA-AU X 123043371 123043371 single base substitution G C upstream_gene_variant PACA-AU X 123044086 123044086 single base substitution T G 3_prime_UTR_variant PACA-AU X 123044086 123044086 single base substitution T G downstream_gene_variant PACA-AU X 123044086 123044086 single base substitution T G upstream_gene_variant PACA-AU X 123044484 123044484 single base substitution C T 3_prime_UTR_variant PACA-AU X 123044484 123044484 single base substitution C T downstream_gene_variant PACA-AU X 123044484 123044484 single base substitution C T upstream_gene_variant PACA-AU X 123044793 123044793 deletion of <=200bp A - 3_prime_UTR_variant PACA-AU X 123044793 123044793 deletion of <=200bp A - downstream_gene_variant PACA-AU X 123044793 123044793 deletion of <=200bp A - upstream_gene_variant PACA-AU X 123046538 123046538 single base substitution T A 3_prime_UTR_variant PACA-AU X 123046538 123046538 single base substitution T A upstream_gene_variant PACA-AU X 123047693 123047693 single base substitution C T 3_prime_UTR_variant PACA-AU X 123047693 123047693 single base substitution C T downstream_gene_variant PACA-AU X 123051129 123051129 single base substitution C A downstream_gene_variant PACA-AU X 123051776 123051776 single base substitution T C downstream_gene_variant PACA-CA X 122989585 122989585 single base substitution G A upstream_gene_variant PACA-CA X 122989915 122989915 single base substitution G A upstream_gene_variant PACA-CA X 122990503 122990503 single base substitution G T upstream_gene_variant PACA-CA X 122992052 122992052 single base substitution C T upstream_gene_variant PACA-CA X 122994191 122994191 single base substitution C T 5_prime_UTR_variant PACA-CA X 122994191 122994191 single base substitution C T intron_variant PACA-CA X 122994191 122994191 single base substitution C T upstream_gene_variant PACA-CA X 122997690 122997690 single base substitution T C intron_variant PACA-CA X 122999042 122999042 single base substitution T C intron_variant PACA-CA X 123000040 123000040 single base substitution C A intron_variant PACA-CA X 123005392 123005392 single base substitution A T intron_variant PACA-CA X 123006340 123006340 single base substitution A T intron_variant PACA-CA X 123006723 123006723 single base substitution T C intron_variant PACA-CA X 123008989 123008989 single base substitution C T intron_variant PACA-CA X 123013531 123013531 single base substitution C T intron_variant PACA-CA X 123013791 123013791 single base substitution C T intron_variant PACA-CA X 123017647 123017647 deletion of <=200bp T - intron_variant PACA-CA X 123019509 123019509 single base substitution G A 5_prime_UTR_variant PACA-CA X 123019509 123019509 single base substitution G A intron_variant PACA-CA X 123020901 123020901 single base substitution C T downstream_gene_variant PACA-CA X 123020901 123020901 single base substitution C T intron_variant PACA-CA X 123021847 123021847 deletion of <=200bp T - downstream_gene_variant PACA-CA X 123021847 123021847 deletion of <=200bp T - intron_variant PACA-CA X 123023594 123023594 insertion of <=200bp - AGAGAT downstream_gene_variant PACA-CA X 123023594 123023594 insertion of <=200bp - AGAGAT intron_variant PACA-CA X 123023597 123023597 insertion of <=200bp - CCC downstream_gene_variant PACA-CA X 123023597 123023597 insertion of <=200bp - CCC intron_variant PACA-CA X 123023598 123023598 insertion of <=200bp - CATCAG downstream_gene_variant PACA-CA X 123023598 123023598 insertion of <=200bp - CATCAG intron_variant PACA-CA X 123023675 123023675 single base substitution T A downstream_gene_variant PACA-CA X 123023675 123023675 single base substitution T A intron_variant PACA-CA X 123023779 123023779 single base substitution T A downstream_gene_variant PACA-CA X 123023779 123023779 single base substitution T A intron_variant PACA-CA X 123026743 123026743 single base substitution T A downstream_gene_variant PACA-CA X 123026743 123026743 single base substitution T A intron_variant PACA-CA X 123030179 123030179 single base substitution A T intron_variant PACA-CA X 123030320 123030320 insertion of <=200bp - T intron_variant PACA-CA X 123030829 123030829 single base substitution T C intron_variant PACA-CA X 123030978 123030978 single base substitution T A intron_variant PACA-CA X 123037226 123037226 single base substitution C T downstream_gene_variant PACA-CA X 123037226 123037226 single base substitution C T intron_variant PACA-CA X 123037493 123037493 insertion of <=200bp - T downstream_gene_variant PACA-CA X 123037493 123037493 insertion of <=200bp - T intron_variant PACA-CA X 123041787 123041787 single base substitution A G 3_prime_UTR_variant PACA-CA X 123041787 123041787 single base substitution A G downstream_gene_variant PACA-CA X 123041787 123041787 single base substitution A G upstream_gene_variant PACA-CA X 123045504 123045504 single base substitution G T 3_prime_UTR_variant PACA-CA X 123045504 123045504 single base substitution G T downstream_gene_variant PACA-CA X 123045504 123045504 single base substitution G T upstream_gene_variant PACA-CA X 123045505 123045505 single base substitution G T 3_prime_UTR_variant PACA-CA X 123045505 123045505 single base substitution G T downstream_gene_variant PACA-CA X 123045505 123045505 single base substitution G T upstream_gene_variant PACA-CA X 123047686 123047686 deletion of <=200bp T - 3_prime_UTR_variant PACA-CA X 123047686 123047686 deletion of <=200bp T - downstream_gene_variant PACA-CA X 123048260 123048260 single base substitution T C downstream_gene_variant PACA-CA X 123050183 123050183 single base substitution C T downstream_gene_variant PAEN-AU X 122996739 122996739 single base substitution T G intron_variant PAEN-AU X 123005443 123005443 single base substitution A C intron_variant PAEN-AU X 123014815 123014815 single base substitution A G intron_variant PAEN-IT X 122996493 122996493 single base substitution C G intron_variant PBCA-DE X 122991473 122991473 single base substitution G A upstream_gene_variant PBCA-DE X 122995589 122995589 insertion of <=200bp - AT intron_variant PBCA-DE X 123000944 123000944 single base substitution G A intron_variant PBCA-DE X 123008863 123008863 single base substitution A C intron_variant PBCA-DE X 123012135 123012135 deletion of <=200bp T - intron_variant PBCA-DE X 123018163 123018163 single base substitution G A intron_variant PBCA-DE X 123018491 123018491 single base substitution A T intron_variant PBCA-DE X 123032289 123032289 single base substitution C T intron_variant PBCA-DE X 123035481 123035481 single base substitution T C downstream_gene_variant PBCA-DE X 123035481 123035481 single base substitution T C intron_variant PBCA-DE X 123037919 123037919 single base substitution G A downstream_gene_variant PBCA-DE X 123037919 123037919 single base substitution G A intron_variant PBCA-DE X 123049706 123049706 single base substitution G A downstream_gene_variant PRAD-CA X 122998858 122998858 single base substitution G T intron_variant PRAD-CA X 123031868 123031868 single base substitution C A intron_variant PRAD-UK X 123013997 123013997 single base substitution T A intron_variant PRAD-UK X 123015489 123015489 single base substitution A T intron_variant PRAD-UK X 123021561 123021561 single base substitution C T downstream_gene_variant PRAD-UK X 123021561 123021561 single base substitution C T intron_variant PRAD-UK X 123047550 123047550 insertion of <=200bp - T 3_prime_UTR_variant PRAD-UK X 123047550 123047550 insertion of <=200bp - T downstream_gene_variant READ-US X 123020225 123020225 single base substitution G A downstream_gene_variant READ-US X 123020225 123020225 single base substitution G A intron_variant READ-US X 123020225 123020225 single base substitution G A missense_variant R238Q 713G>A READ-US X 123020285 123020285 single base substitution G T downstream_gene_variant READ-US X 123020285 123020285 single base substitution G T intron_variant READ-US X 123020285 123020285 single base substitution G T missense_variant R258I 773G>T RECA-EU X 122995403 122995403 single base substitution A G intron_variant RECA-EU X 123020926 123020926 single base substitution C T downstream_gene_variant RECA-EU X 123020926 123020926 single base substitution C T intron_variant RECA-EU X 123023119 123023119 single base substitution T G downstream_gene_variant RECA-EU X 123023119 123023119 single base substitution T G intron_variant RECA-EU X 123037756 123037756 single base substitution T C downstream_gene_variant RECA-EU X 123037756 123037756 single base substitution T C intron_variant RECA-EU X 123047668 123047668 single base substitution G C 3_prime_UTR_variant RECA-EU X 123047668 123047668 single base substitution G C downstream_gene_variant SKCA-BR X 122995089 122995089 single base substitution C A intron_variant SKCA-BR X 122998549 122998549 single base substitution G T intron_variant SKCA-BR X 122999549 122999549 single base substitution G A intron_variant SKCA-BR X 123005129 123005130 deletion of <=200bp GA - intron_variant SKCA-BR X 123007753 123007753 single base substitution C T intron_variant SKCA-BR X 123011835 123011841 deletion of <=200bp AAGAATT - intron_variant SKCA-BR X 123011836 123011842 deletion of <=200bp AGAATTT - intron_variant SKCA-BR X 123013166 123013166 single base substitution T A intron_variant SKCA-BR X 123016893 123016893 single base substitution C T intron_variant SKCA-BR X 123023711 123023711 insertion of <=200bp - CT downstream_gene_variant SKCA-BR X 123023711 123023711 insertion of <=200bp - CT intron_variant SKCA-BR X 123024087 123024087 single base substitution C T downstream_gene_variant SKCA-BR X 123024087 123024087 single base substitution C T intron_variant SKCA-BR X 123024489 123024489 insertion of <=200bp - CA downstream_gene_variant SKCA-BR X 123024489 123024489 insertion of <=200bp - CA intron_variant SKCA-BR X 123026404 123026404 single base substitution T C downstream_gene_variant SKCA-BR X 123026404 123026404 single base substitution T C intron_variant SKCA-BR X 123028619 123028619 insertion of <=200bp - CA intron_variant SKCA-BR X 123032514 123032514 single base substitution T A intron_variant SKCA-BR X 123034962 123034962 single base substitution C T downstream_gene_variant SKCA-BR X 123034962 123034962 single base substitution C T intron_variant SKCA-BR X 123037480 123037493 deletion of <=200bp TGTTTTGTTTTTTG - downstream_gene_variant SKCA-BR X 123037480 123037493 deletion of <=200bp TGTTTTGTTTTTTG - intron_variant SKCA-BR X 123041803 123041803 single base substitution C G 3_prime_UTR_variant SKCA-BR X 123041803 123041803 single base substitution C G downstream_gene_variant SKCA-BR X 123041803 123041803 single base substitution C G upstream_gene_variant SKCA-BR X 123041808 123041808 single base substitution A G 3_prime_UTR_variant SKCA-BR X 123041808 123041808 single base substitution A G downstream_gene_variant SKCA-BR X 123041808 123041808 single base substitution A G upstream_gene_variant SKCA-BR X 123046089 123046089 single base substitution T A 3_prime_UTR_variant SKCA-BR X 123046089 123046089 single base substitution T A downstream_gene_variant SKCA-BR X 123046089 123046089 single base substitution T A upstream_gene_variant SKCA-BR X 123046535 123046536 deletion of <=200bp TG - 3_prime_UTR_variant SKCA-BR X 123046535 123046536 deletion of <=200bp TG - upstream_gene_variant SKCA-BR X 123046537 123046537 single base substitution T A 3_prime_UTR_variant SKCA-BR X 123046537 123046537 single base substitution T A upstream_gene_variant SKCA-BR X 123050105 123050115 deletion of <=200bp CAAAAAAAAAA - downstream_gene_variant SKCM-US X 123019668 123019668 single base substitution T C downstream_gene_variant SKCM-US X 123019668 123019668 single base substitution T C intron_variant SKCM-US X 123019668 123019668 single base substitution T C synonymous_variant F52F 156T>C SKCM-US X 123034363 123034363 single base substitution C T exon_variant SKCM-US X 123034363 123034363 single base substitution C T missense_variant P374S 1120C>T SKCM-US X 123034483 123034483 single base substitution C T downstream_gene_variant SKCM-US X 123034483 123034483 single base substitution C T exon_variant SKCM-US X 123034483 123034483 single base substitution C T synonymous_variant L414L 1240C>T STAD-US X 123019704 123019704 single base substitution T G downstream_gene_variant STAD-US X 123019704 123019704 single base substitution T G intron_variant STAD-US X 123019704 123019704 single base substitution T G missense_variant F64L 192T>G STAD-US X 123020225 123020225 single base substitution G A downstream_gene_variant STAD-US X 123020225 123020225 single base substitution G A intron_variant STAD-US X 123020225 123020225 single base substitution G A missense_variant R238Q 713G>A THCA-SA X 123041043 123041043 single base substitution A G 3_prime_UTR_variant THCA-SA X 123041043 123041043 single base substitution A G downstream_gene_variant THCA-SA X 123041043 123041043 single base substitution A G exon_variant THCA-SA X 123041834 123041834 single base substitution G T 3_prime_UTR_variant THCA-SA X 123041834 123041834 single base substitution G T downstream_gene_variant THCA-SA X 123041834 123041834 single base substitution G T upstream_gene_variant THCA-SA X 123042424 123042424 single base substitution G A 3_prime_UTR_variant THCA-SA X 123042424 123042424 single base substitution G A downstream_gene_variant THCA-SA X 123042424 123042424 single base substitution G A upstream_gene_variant THCA-SA X 123042707 123042707 single base substitution T C 3_prime_UTR_variant THCA-SA X 123042707 123042707 single base substitution T C downstream_gene_variant THCA-SA X 123042707 123042707 single base substitution T C upstream_gene_variant THCA-SA X 123043705 123043705 single base substitution A C 3_prime_UTR_variant THCA-SA X 123043705 123043705 single base substitution A C downstream_gene_variant THCA-SA X 123043705 123043705 single base substitution A C upstream_gene_variant THCA-SA X 123043876 123043876 single base substitution C T 3_prime_UTR_variant THCA-SA X 123043876 123043876 single base substitution C T downstream_gene_variant THCA-SA X 123043876 123043876 single base substitution C T upstream_gene_variant THCA-SA X 123045046 123045046 single base substitution A G 3_prime_UTR_variant THCA-SA X 123045046 123045046 single base substitution A G downstream_gene_variant THCA-SA X 123045046 123045046 single base substitution A G upstream_gene_variant THCA-SA X 123045109 123045109 single base substitution C A 3_prime_UTR_variant THCA-SA X 123045109 123045109 single base substitution C A downstream_gene_variant THCA-SA X 123045109 123045109 single base substitution C A upstream_gene_variant THCA-SA X 123045915 123045915 single base substitution C T 3_prime_UTR_variant THCA-SA X 123045915 123045915 single base substitution C T downstream_gene_variant THCA-SA X 123045915 123045915 single base substitution C T upstream_gene_variant THCA-SA X 123047282 123047282 single base substitution C T 3_prime_UTR_variant THCA-SA X 123047282 123047282 single base substitution C T exon_variant THCA-SA X 123047668 123047668 single base substitution G C 3_prime_UTR_variant THCA-SA X 123047668 123047668 single base substitution G C downstream_gene_variant THCA-SA X 123047709 123047709 single base substitution G A 3_prime_UTR_variant THCA-SA X 123047709 123047709 single base substitution G A downstream_gene_variant THCA-SA X 123047728 123047728 single base substitution T C 3_prime_UTR_variant THCA-SA X 123047728 123047728 single base substitution T C downstream_gene_variant UCEC-US X 123019538 123019538 single base substitution C A intron_variant UCEC-US X 123019538 123019538 single base substitution C A missense_variant S9Y 26C>A UCEC-US X 123019576 123019576 single base substitution G T downstream_gene_variant UCEC-US X 123019576 123019576 single base substitution G T intron_variant UCEC-US X 123019576 123019576 single base substitution G T stop_gained E22* 64G>T UCEC-US X 123019598 123019598 single base substitution G T downstream_gene_variant UCEC-US X 123019598 123019598 single base substitution G T intron_variant UCEC-US X 123019598 123019598 single base substitution G T missense_variant R29I 86G>T UCEC-US X 123019669 123019669 single base substitution C A downstream_gene_variant UCEC-US X 123019669 123019669 single base substitution C A intron_variant UCEC-US X 123019669 123019669 single base substitution C A missense_variant L53I 157C>A UCEC-US X 123019821 123019821 single base substitution G A downstream_gene_variant UCEC-US X 123019821 123019821 single base substitution G A intron_variant UCEC-US X 123019821 123019821 single base substitution G A synonymous_variant T103T 309G>A UCEC-US X 123020016 123020016 single base substitution G T downstream_gene_variant UCEC-US X 123020016 123020016 single base substitution G T intron_variant UCEC-US X 123020016 123020016 single base substitution G T missense_variant K168N 504G>T UCEC-US X 123020210 123020210 single base substitution G A downstream_gene_variant UCEC-US X 123020210 123020210 single base substitution G A intron_variant UCEC-US X 123020210 123020210 single base substitution G A missense_variant R233Q 698G>A UCEC-US X 123020215 123020215 single base substitution C A downstream_gene_variant UCEC-US X 123020215 123020215 single base substitution C A intron_variant UCEC-US X 123020215 123020215 single base substitution C A missense_variant L235I 703C>A UCEC-US X 123025126 123025126 single base substitution T C downstream_gene_variant UCEC-US X 123025126 123025126 single base substitution T C exon_variant UCEC-US X 123025126 123025126 single base substitution T C intron_variant UCEC-US X 123025126 123025126 single base substitution T C missense_variant I339T 1016T>C UCEC-US X 123034364 123034364 single base substitution C A exon_variant UCEC-US X 123034364 123034364 single base substitution C A missense_variant P374H 1121C>A UCEC-US X 123034375 123034375 single base substitution G A exon_variant UCEC-US X 123034375 123034375 single base substitution G A missense_variant E378K 1132G>A UCEC-US X 123034442 123034442 single base substitution C A downstream_gene_variant UCEC-US X 123034442 123034442 single base substitution C A exon_variant UCEC-US X 123034442 123034442 single base substitution C A missense_variant S400Y 1199C>A UCEC-US X 123040882 123040882 single base substitution C T downstream_gene_variant UCEC-US X 123040882 123040882 single base substitution C T exon_variant UCEC-US X 123040882 123040882 single base substitution C T missense_variant L449F 1345C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-63-5128-01 COSM755542 c.1138A>G p.I380V Substitution - Missense 23:123900531-123900531 + TCGA-BS-A0UF-01 COSM1114418 c.1199C>A p.S400Y Substitution - Missense 23:123900592-123900592 + YUHAMA COSM4377162 c.1121C>T p.P374L Substitution - Missense 23:123900514-123900514 + pfg068T COSM4760856 c.592G>A p.V198M Substitution - Missense 23:123886254-123886254 + TCGA-AD-5900-01 COSM1465355 c.2T>C p.M1T Substitution - Missense 23:123885664-123885664 + sysucc-783T COSM5485122 c.908G>A p.C303Y Substitution - Missense 23:123888649-123888649 + TCGA-D5-5538-01 COSM1465359 c.1145T>C p.M382T Substitution - Missense 23:123900538-123900538 + TCGA-34-5236-01 COSM755540 c.1415A>G p.K472R Substitution - Missense 23:123907102-123907102 + I2L-P7-Tumor-Organoid COSM5366761 c.1475delA p.I494fs*>4 Deletion - Frameshift 23:123907162-123907162 + TCGA-B5-A0JY-01 COSM1114414 c.703C>A p.L235I Substitution - Missense 23:123886365-123886365 + PD4132a COSM165625 c.269G>A p.C90Y Substitution - Missense 23:123885931-123885931 + TCGA-AZ-4315-01 COSM1465360 c.1479A>C p.K493N Substitution - Missense 23:123907166-123907166 + ESCC_BICR_047T COSM5430483 c.1374T>C p.I458I Substitution - coding silent 23:123907061-123907061 + BD177T COSM5517546 c.1339G>C p.E447Q Substitution - Missense 23:123907026-123907026 + TCGA-CJ-4897-01 COSM487898 c.776A>G p.N259S Substitution - Missense 23:123886438-123886438 + TCGA-FU-A3HZ-01 COSM4840522 c.1009G>T p.E337* Substitution - Nonsense 23:123891269-123891269 + TCGA-B0-5706-01 COSM487899 c.872C>T p.A291V Substitution - Missense 23:123886534-123886534 + TCGA-43-3920-01 COSM755543 c.819G>A p.G273G Substitution - coding silent 23:123886481-123886481 + TCGA-CA-6717-01 COSM1465361 c.1482T>G p.I494M Substitution - Missense 23:123907169-123907169 + TCGA-BR-8680-01 COSM2724500 c.713G>A p.R238Q Substitution - Missense 23:123886375-123886375 + YUKRIN COSM1715489 c.934_935CC>TT p.P312F Substitution - Missense 23:123888675-123888676 + T3021 COSM4741611 c.716G>A p.S239N Substitution - Missense 23:123886378-123886378 + TCGA-EB-A41B-01 COSM3557473 c.1240C>T p.L414L Substitution - coding silent 23:123900633-123900633 + Au8 COSM5607218 c.952G>A p.E318K Substitution - Missense 23:123888693-123888693 + C086 COSM5541829 c.1362G>A p.M454I Substitution - Missense 23:123907049-123907049 + PDA_083 COSM3759346 c.1268A>C p.Q423P Substitution - Missense 23:123900661-123900661 + TCGA-10-0938-01 COSM120033 c.1385T>A p.F462Y Substitution - Missense 23:123907072-123907072 + YURAY COSM5411913 c.1380C>T p.I460I Substitution - coding silent 23:123907067-123907067 + CRC-06T COSM5457482 c.1328G>A p.R443H Substitution - Missense 23:123907015-123907015 + TCGA-AP-A059-01 COSM1114416 c.1121C>A p.P374H Substitution - Missense 23:123900514-123900514 + SJBALL020625_D1 COSM4993810 c.395C>A p.P132Q Substitution - Missense 23:123886057-123886057 + HCC65T COSM1625464 c.1349G>T p.C450F Substitution - Missense 23:123907036-123907036 + TCGA-CD-5813-01 COSM4106370 c.192T>G p.F64L Substitution - Missense 23:123885854-123885854 + TCGA-30-1718-01 COSM1331285 c.1109T>C p.I370T Substitution - Missense 23:123900502-123900502 + ESCC_BICR_016T COSM5439646 c.1390C>T p.P464S Substitution - Missense 23:123907077-123907077 + T3255 COSM4741607 c.54T>C p.N18N Substitution - coding silent 23:123885716-123885716 + TCGA-AY-6197-01 COSM1465356 c.347A>G p.K116R Substitution - Missense 23:123886009-123886009 + PD6729a2 COSM5785558 c.563G>T p.G188V Substitution - Missense 23:123886225-123886225 + TCGA-AX-A0J0-01 COSM1114407 c.26C>A p.S9Y Substitution - Missense 23:123885688-123885688 + TCGA-AA-3672-01 COSM267770 c.470A>G p.N157S Substitution - Missense 23:123886132-123886132 + BD72T COSM5513862 c.1058T>C p.V353A Substitution - Missense 23:123892732-123892732 + TCGA-G4-6588-01 COSM1465357 c.536T>C p.L179P Substitution - Missense 23:123886198-123886198 + TCGA-B5-A0JR-01 COSM1114413 c.698G>A p.R233Q Substitution - Missense 23:123886360-123886360 + TCGA-A8-A09Z-01 COSM3843468 c.699G>A p.R233R Substitution - coding silent 23:123886361-123886361 + T2932 COSM4741608 c.117T>C p.G39G Substitution - coding silent 23:123885779-123885779 + PD11383a COSM5786403 c.973C>T p.P325S Substitution - Missense 23:123888714-123888714 + NCI-H2009 COSM13998 c.766C>G p.L256V Substitution - Missense 23:123886428-123886428 + TCGA-AP-A0LM-01 COSM1114410 c.157C>A p.L53I Substitution - Missense 23:123885819-123885819 + TCGA-22-1002-01 COSM755544 c.447A>G p.I149M Substitution - Missense 23:123886109-123886109 + PD6041a COSM5793378 c.103A>G p.N35D Substitution - Missense 23:123885765-123885765 + TCGA-BS-A0UF-01 COSM1114417 c.1132G>A p.E378K Substitution - Missense 23:123900525-123900525 + T3670 COSM4741610 c.669C>T p.H223H Substitution - coding silent 23:123886331-123886331 + HCC41T COSM1625463 c.493G>T p.A165S Substitution - Missense 23:123886155-123886155 + HCC41 COSM1625463 c.493G>T p.A165S Substitution - Missense 23:123886155-123886155 + TCGA-B5-A0JY-01 COSM1114409 c.86G>T p.R29I Substitution - Missense 23:123885748-123885748 + NCI-H2009 COSM13998 c.766C>G p.L256V Substitution - Missense 23:123886428-123886428 + HCC94T COSM1625462 c.132A>G p.A44A Substitution - coding silent 23:123885794-123885794 + HCC016T COSM5811677 c.271A>T p.R91* Substitution - Nonsense 23:123885933-123885933 + CRC-03T COSM5451986 c.155T>C p.F52S Substitution - Missense 23:123885817-123885817 + 2492714 COSM5607218 c.952G>A p.E318K Substitution - Missense 23:123888693-123888693 + C086 COSM5541828 c.73G>A p.E25K Substitution - Missense 23:123885735-123885735 + SNU-175 COSM2724508 c.1162G>A p.D388N Substitution - Missense 23:123900555-123900555 + HCC94 COSM1625462 c.132A>G p.A44A Substitution - coding silent 23:123885794-123885794 + AOCS-167-16-X COSM4137642 c.978G>A p.G326G Substitution - coding silent 23:123891238-123891238 + TCGA-BS-A0UF-01 COSM1114412 c.504G>T p.K168N Substitution - Missense 23:123886166-123886166 + TCGA-F4-6856-01 COSM1114411 c.309G>A p.T103T Substitution - coding silent 23:123885971-123885971 + TCGA-CA-5256-01 COSM5143748 c.1190T>A p.I397N Substitution - Missense 23:123900583-123900583 + TCGA-A8-A07I-01 COSM456671 c.285C>A p.G95G Substitution - coding silent 23:123885947-123885947 + TCGA-AM-5821-01 COSM3759346 c.1268A>C p.Q423P Substitution - Missense 23:123900661-123900661 + TCGA-F5-6814-01 COSM3424431 c.773G>T p.R258I Substitution - Missense 23:123886435-123886435 + TCGA-34-5927-01 COSM755541 c.1235C>T p.A412V Substitution - Missense 23:123900628-123900628 + TCGA-B5-A0JY-01 COSM1114420 c.1345C>T p.L449F Substitution - Missense 23:123907032-123907032 + TCGA-F5-6814-01 COSM2724500 c.713G>A p.R238Q Substitution - Missense 23:123886375-123886375 + OV207 COSM252922 c.185G>A p.R62Q Substitution - Missense 23:123885847-123885847 + TCGA-39-5030-01 COSM755545 c.270C>A p.C90* Substitution - Nonsense 23:123885932-123885932 + TCGA-A5-A0GP-01 COSM1114408 c.64G>T p.E22* Substitution - Nonsense 23:123885726-123885726 + TCGA-EB-A431-01 COSM3557471 c.156T>C p.F52F Substitution - coding silent 23:123885818-123885818 + TCGA-BG-A0MQ-01 COSM1114411 c.309G>A p.T103T Substitution - coding silent 23:123885971-123885971 + PT34 COSM5911185 c.1289C>T p.S430L Substitution - Missense 23:123900682-123900682 + T2991 COSM4741609 c.349G>C p.V117L Substitution - Missense 23:123886011-123886011 + 2492712 COSM5607218 c.952G>A p.E318K Substitution - Missense 23:123888693-123888693 + TCGA-42-2591-01 COSM1331284 c.1336G>C p.E446Q Substitution - Missense 23:123907023-123907023 + S00539 COSM316587 c.233C>A p.S78* Substitution - Nonsense 23:123885895-123885895 + TCGA-D1-A17Q-01 COSM1114415 c.1016T>C p.I339T Substitution - Missense 23:123891276-123891276 + TCGA-AK-3436-01 COSM1138064 c.1056+2T>C p.? Unknown 23:123891318-123891318 + CSCC-27-T COSM4512480 c.904C>T p.H302Y Substitution - Missense 23:123888645-123888645 + S02342 COSM5693142 c.410C>G p.A137G Substitution - Missense 23:123886072-123886072 + HT115 COSM2724500 c.713G>A p.R238Q Substitution - Missense 23:123886375-123886375 + TCGA-EE-A181-06 COSM3557472 c.1120C>T p.P374S Substitution - Missense 23:123900513-123900513 + H1155 COSM1195767 c.1310C>T p.T437I Substitution - Missense 23:123906997-123906997 + TCGA-A2-A0CZ-01 COSM456672 c.358T>A p.Y120N Substitution - Missense 23:123886020-123886020 + 254891 COSM3724876 c.116G>A p.G39D Substitution - Missense 23:123885778-123885778 + S00539 COSM316587 c.233C>A p.S78* Substitution - Nonsense 23:123885895-123885895 + 2492713 COSM5607218 c.952G>A p.E318K Substitution - Missense 23:123888693-123888693 + 39 COSM4777626 c.1150T>C p.F384L Substitution - Missense 23:123900543-123900543 + HDC54 COSM4636539 c.1206C>T p.S402S Substitution - coding silent 23:123900599-123900599 + TCGA-AA-A010-01 COSM286559 c.1191T>G p.I397M Substitution - Missense 23:123900584-123900584 + TCGA-13-1482-01 COSM77029 c.533A>G p.H178R Substitution - Missense 23:123886195-123886195 + 2492711 COSM5607218 c.952G>A p.E318K Substitution - Missense 23:123888693-123888693 + NYU872 COSM4771080 c.276T>C p.F92F Substitution - coding silent 23:123885938-123885938 + TCGA-FG-5965-01 COSM3973198 c.584G>C p.G195A Substitution - Missense 23:123886246-123886246 + TCGA-HT-7604-01 COSM3973199 c.1184A>G p.E395G Substitution - Missense 23:123900577-123900577 + TCGA-AN-A0FL-01 COSM456673 c.1461C>G p.V487V Substitution - coding silent 23:123907148-123907148 + NOKSI COSM4595777 c.1192C>T p.Q398* Substitution - Nonsense 23:123900585-123900585 + TCGA-B5-A0JV-01 COSM1114419 c.1262G>A p.S421N Substitution - Missense 23:123900655-123900655 + S00946 COSM316588 c.263C>A p.P88Q Substitution - Missense 23:123885925-123885925 + TCGA-FD-A3SL-01 COSM3800380 c.1440G>A p.K480K Substitution - coding silent 23:123907127-123907127 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.356076 Xq25 300079

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.E395G c.1184A>G X 123034427 LGG A G Missense p.H178R c.533A>G X 123020045 OV A G Missense p.I149M c.447A>G X 123019959 LUSC A G Missense p.I380V c.1138A>G X 123034381 LUSC A G Missense p.K472R c.1415A>G X 123040952 LUSC A G Missense p.N259S c.776A>G X 123020288 RCCC C A 3-UTRSNV . c.1491+1423C>A X 123042451 DLBCL C A Missense p.P88Q c.263C>A X 123019775 SCLC C A Nonsense p.C90* c.270C>A X 123019782 LUSC C A Nonsense p.S78* c.233C>A X 123019745 SCLC C A Nonsense p.Y191* c.573C>A X 123020085 LUAD C A Synonymous p.G95G c.285C>A X 123019797 BRCA CC TT Missense p.P312F c.934_935delinsTT X 123022525 CM C G Synonymous p.V487V c.1461C>G X 123040998 BRCA C T 3-UTRSNV . c.1491+970C>T X 123041998 HC C T Missense p.A412V c.1235C>T X 123034478 LUSC C T Missense p.P374S c.1120C>T X 123034363 CM C T Missense p.R443C c.1327C>T X 123040864 HNSC G A Missense p.C90Y c.269G>A X 123019781 BRCA G A Missense p.R233Q c.698G>A X 123020210 UCEC G A Synonymous p.G273G c.819G>A X 123020331 LUSC G C Missense p.G195A c.584G>C X 123020096 LGG G T Missense p.D16Y c.46G>T X 123019558 LUAD G T Missense p.M262I c.786G>T X 123020298 LUAD G T Missense p.R84S c.252G>T X 123019764 LUAD G T Nonsense p.E22* c.64G>T X 123019576 UCEC G T Nonsense p.E447* c.1339G>T X 123040876 LUAD T A Missense p.F462Y c.1385T>A X 123040922 OV T A Missense p.Y120N c.358T>A X 123019870 BRCA T C SpliceDonorSNV . c.1056+2T>C X 123025168 RCCC T G Missense p.F64L c.192T>G X 123019704 STAD