Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 3 148763873 148763873 + Missense_Mutation SNP A A G TCGA-OR-A5LR-01A-11D-A29I-10 TCGA-OR-A5LR-10A-01D-A29L-10 g.chr3:148763873A>G c.2066T>C c.(2065-2067)aTt>aCt p.I689T ACC 3 148763946 148763946 + Missense_Mutation SNP T T A TCGA-OR-A5J8-01A-11D-A29I-10 TCGA-OR-A5J8-10A-01D-A29L-10 g.chr3:148763946T>A c.1993A>T c.(1993-1995)Att>Ttt p.I665F BLCA 3 148757904 148757904 + Missense_Mutation SNP C C T TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr3:148757904C>T c.2416G>A c.(2416-2418)Gaa>Aaa p.E806K BLCA 3 148759279 148759279 + Missense_Mutation SNP G G T TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr3:148759279G>T c.2374C>A c.(2374-2376)Cag>Aag p.Q792K BLCA 3 148773120 148773120 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr3:148773120G>C c.1443C>G c.(1441-1443)atC>atG p.I481M BLCA 3 148777540 148777540 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 g.chr3:148777540G>A c.1340C>T c.(1339-1341)tCt>tTt p.S447F BRCA 3 148750037 148750037 + Missense_Mutation SNP A A C TCGA-A2-A0T1-01A-21D-A099-09 TCGA-A2-A0T1-10A-01D-A099-09 g.chr3:148750037A>C c.3000T>G c.(2998-3000)atT>atG p.I1000M BRCA 3 148750058 148750058 + Silent SNP G G A TCGA-AN-A03Y-01A-21W-A019-09 TCGA-AN-A03Y-10A-01W-A021-09 g.chr3:148750058G>A c.2979C>T c.(2977-2979)gaC>gaT p.D993D BRCA 3 148782631 148782631 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:148782631G>C c.1013C>G c.(1012-1014)tCt>tGt p.S338C BRCA 3 148793804 148793806 + In_Frame_Del DEL GTT GTT - TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 g.chr3:148793804_148793806delGTT c.257_259delAAC c.(256-261)caacga>cga p.Q86del CESC 3 148756954 148756954 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr3:148756954G>C c.2678C>G c.(2677-2679)tCa>tGa p.S893* CESC 3 148778607 148778607 + Nonsense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr3:148778607G>C c.1199C>G c.(1198-1200)tCa>tGa p.S400* COAD 3 148756855 148756855 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:148756855C>T c.2777G>A c.(2776-2778)cGa>cAa p.R926Q COAD 3 148756976 148756976 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:148756976C>T c.2656G>A c.(2656-2658)Gcc>Acc p.A886T COAD 3 148759356 148759356 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:148759356G>T c.2297C>A c.(2296-2298)tCt>tAt p.S766Y COAD 3 148759428 148759428 + Missense_Mutation SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:148759428T>G c.2225A>C c.(2224-2226)aAg>aCg p.K742T COAD 3 148765848 148765848 + Missense_Mutation SNP C C T TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr3:148765848C>T c.1859G>A c.(1858-1860)cGt>cAt p.R620H COAD 3 148766718 148766718 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:148766718C>T c.1688G>A c.(1687-1689)cGa>cAa p.R563Q COAD 3 148778603 148778603 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:148778603C>A c.1203G>T c.(1201-1203)gaG>gaT p.E401D COAD 3 148789069 148789069 + Silent SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:148789069A>G c.864T>C c.(862-864)caT>caC p.H288H COAD 3 148792015 148792015 + Silent SNP A A G TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr3:148792015A>G c.516T>C c.(514-516)ggT>ggC p.G172G COAD 3 148793782 148793782 + Missense_Mutation SNP T T C TCGA-F4-6460-01A-11D-1771-10 TCGA-F4-6460-10B-01D-1771-10 g.chr3:148793782T>C c.281A>G c.(280-282)gAt>gGt p.D94G COADREAD 3 148756855 148756855 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:148756855C>T c.2777G>A c.(2776-2778)cGa>cAa p.R926Q COADREAD 3 148756976 148756976 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:148756976C>T c.2656G>A c.(2656-2658)Gcc>Acc p.A886T COADREAD 3 148757468 148757468 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:148757468T>G c.2515A>C c.(2515-2517)Atg>Ctg p.M839L COADREAD 3 148759356 148759356 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:148759356G>T c.2297C>A c.(2296-2298)tCt>tAt p.S766Y COADREAD 3 148759428 148759428 + Missense_Mutation SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:148759428T>G c.2225A>C c.(2224-2226)aAg>aCg p.K742T COADREAD 3 148765848 148765848 + Missense_Mutation SNP C C T TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr3:148765848C>T c.1859G>A c.(1858-1860)cGt>cAt p.R620H COADREAD 3 148766718 148766718 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:148766718C>T c.1688G>A c.(1687-1689)cGa>cAa p.R563Q COADREAD 3 148768141 148768141 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:148768141T>G c.1495A>C c.(1495-1497)Aaa>Caa p.K499Q COADREAD 3 148778603 148778603 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:148778603C>A c.1203G>T c.(1201-1203)gaG>gaT p.E401D COADREAD 3 148789069 148789069 + Silent SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:148789069A>G c.864T>C c.(862-864)caT>caC p.H288H COADREAD 3 148789435 148789435 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:148789435C>T c.637G>A c.(637-639)Gaa>Aaa p.E213K COADREAD 3 148792015 148792015 + Silent SNP A A G TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr3:148792015A>G c.516T>C c.(514-516)ggT>ggC p.G172G COADREAD 3 148792068 148792068 + Nonsense_Mutation SNP C C A TCGA-DY-A1H8-01A-21D-A152-10 TCGA-DY-A1H8-10A-01D-A152-10 g.chr3:148792068C>A c.463G>T c.(463-465)Gaa>Taa p.E155* COADREAD 3 148793782 148793782 + Missense_Mutation SNP T T C TCGA-F4-6460-01A-11D-1771-10 TCGA-F4-6460-10B-01D-1771-10 g.chr3:148793782T>C c.281A>G c.(280-282)gAt>gGt p.D94G DLBC 3 148756993 148756993 + Missense_Mutation SNP C C T TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr3:148756993C>T c.2639G>A c.(2638-2640)cGt>cAt p.R880H DLBC 3 148768130 148768130 + Silent SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr3:148768130T>C c.1506A>G c.(1504-1506)gtA>gtG p.V502V ESCA 3 148759441 148759441 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 g.chr3:148759441C>G c.2212G>C c.(2212-2214)Gaa>Caa p.E738Q ESCA 3 148766718 148766718 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr3:148766718C>T c.1688G>A c.(1687-1689)cGa>cAa p.R563Q GBM 3 148768105 148768105 + Missense_Mutation SNP C C T TCGA-76-6285-01A-11D-1696-08 TCGA-76-6285-10A-01D-1696-08 g.chr3:148768105C>T c.1531G>A c.(1531-1533)Ggt>Agt p.G511S GBM 3 148804115 148804115 + Nonsense_Mutation SNP C C T TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 g.chr3:148804115C>T c.9G>A c.(7-9)tgG>tgA p.W3* GBMLGG 3 148750076 148750076 + Silent SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:148750076A>T c.2961T>A c.(2959-2961)acT>acA p.T987T GBMLGG 3 148756906 148756906 + Missense_Mutation SNP A A C TCGA-DU-A76L-01A-11D-A32B-08 TCGA-DU-A76L-10A-01D-A329-08 g.chr3:148756906A>C c.2726T>G c.(2725-2727)cTt>cGt p.L909R GBMLGG 3 148756915 148756915 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:148756915G>A c.2717C>T c.(2716-2718)aCt>aTt p.T906I GBMLGG 3 148757856 148757856 + Nonsense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:148757856C>A c.2464G>T c.(2464-2466)Gag>Tag p.E822* GBMLGG 3 148759321 148759321 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:148759321C>T c.2332G>A c.(2332-2334)Gta>Ata p.V778I GBMLGG 3 148768105 148768105 + Missense_Mutation SNP C C T TCGA-76-6285-01A-11D-1696-08 TCGA-76-6285-10A-01D-1696-08 g.chr3:148768105C>T c.1531G>A c.(1531-1533)Ggt>Agt p.G511S GBMLGG 3 148781309 148781309 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:148781309C>T c.1069G>A c.(1069-1071)Gca>Aca p.A357T GBMLGG 3 148789435 148789435 + Nonsense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:148789435C>A c.637G>T c.(637-639)Gaa>Taa p.E213* GBMLGG 3 148792096 148792096 + Silent SNP A A C TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 g.chr3:148792096A>C c.435T>G c.(433-435)ccT>ccG p.P145P GBMLGG 3 148804115 148804115 + Nonsense_Mutation SNP C C T TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 g.chr3:148804115C>T c.9G>A c.(7-9)tgG>tgA p.W3* HNSC 3 148768099 148768099 + Missense_Mutation SNP C C G TCGA-DQ-5624-01A-01D-1870-08 TCGA-DQ-5624-10A-01D-1870-08 g.chr3:148768099C>G c.1537G>C c.(1537-1539)Gat>Cat p.D513H HNSC 3 148778569 148778569 + Missense_Mutation SNP T T G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 g.chr3:148778569T>G c.1237A>C c.(1237-1239)Aaa>Caa p.K413Q HNSC 3 148781271 148781271 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 g.chr3:148781271G>C c.1107C>G c.(1105-1107)atC>atG p.I369M HNSC 3 148781309 148781309 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 g.chr3:148781309C>T c.1069G>A c.(1069-1071)Gca>Aca p.A357T HNSC 3 148786056 148786056 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr3:148786056C>T c.961G>A c.(961-963)Gaa>Aaa p.E321K HNSC 3 148791054 148791054 + Silent SNP A A G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 g.chr3:148791054A>G c.585T>C c.(583-585)taT>taC p.Y195Y HNSC 3 148792018 148792018 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 g.chr3:148792018C>A c.513G>T c.(511-513)ttG>ttT p.L171F KIPAN 3 148766680 148766680 + Missense_Mutation SNP A A T TCGA-B0-4844-01A-01D-1361-10 TCGA-B0-4844-11A-01D-1361-10 g.chr3:148766680A>T c.1726T>A c.(1726-1728)Tta>Ata p.L576I KIPAN 3 148789184 148789184 + Nonsense_Mutation SNP C C T TCGA-BP-4158-01A-02D-1366-10 TCGA-BP-4158-11A-01D-1366-10 g.chr3:148789184C>T c.749G>A c.(748-750)tGg>tAg p.W250* KIRC 3 148766680 148766680 + Missense_Mutation SNP A A T TCGA-B0-4844-01A-01D-1361-10 TCGA-B0-4844-11A-01D-1361-10 g.chr3:148766680A>T c.1726T>A c.(1726-1728)Tta>Ata p.L576I KIRC 3 148789184 148789184 + Nonsense_Mutation SNP C C T TCGA-BP-4158-01A-02D-1366-10 TCGA-BP-4158-11A-01D-1366-10 g.chr3:148789184C>T c.749G>A c.(748-750)tGg>tAg p.W250* LGG 3 148750076 148750076 + Silent SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:148750076A>T c.2961T>A c.(2959-2961)acT>acA p.T987T LGG 3 148756906 148756906 + Missense_Mutation SNP A A C TCGA-DU-A76L-01A-11D-A32B-08 TCGA-DU-A76L-10A-01D-A329-08 g.chr3:148756906A>C c.2726T>G c.(2725-2727)cTt>cGt p.L909R LGG 3 148756915 148756915 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:148756915G>A c.2717C>T c.(2716-2718)aCt>aTt p.T906I LGG 3 148757856 148757856 + Nonsense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:148757856C>A c.2464G>T c.(2464-2466)Gag>Tag p.E822* LGG 3 148759321 148759321 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:148759321C>T c.2332G>A c.(2332-2334)Gta>Ata p.V778I LGG 3 148781309 148781309 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:148781309C>T c.1069G>A c.(1069-1071)Gca>Aca p.A357T LGG 3 148789435 148789435 + Nonsense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:148789435C>A c.637G>T c.(637-639)Gaa>Taa p.E213* LGG 3 148792096 148792096 + Silent SNP A A C TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 g.chr3:148792096A>C c.435T>G c.(433-435)ccT>ccG p.P145P LIHC 3 148778638 148778638 + Frame_Shift_Del DEL T T - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr3:148778638delT c.1168delA c.(1168-1170)actfs p.T390fs LUAD 3 148750110 148750110 + Missense_Mutation SNP T T C TCGA-55-8204-01A-11D-2238-08 TCGA-55-8204-10A-01D-2238-08 g.chr3:148750110T>C c.2927A>G c.(2926-2928)aAa>aGa p.K976R LUAD 3 148757822 148757822 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chr3:148757822G>A c.2498C>T c.(2497-2499)tCa>tTa p.S833L LUAD 3 148759310 148759310 + Missense_Mutation SNP T T A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr3:148759310T>A c.2343A>T c.(2341-2343)aaA>aaT p.K781N LUAD 3 148759384 148759384 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr3:148759384C>G c.2269G>C c.(2269-2271)Gat>Cat p.D757H LUAD 3 148760028 148760028 + Missense_Mutation SNP G G C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 g.chr3:148760028G>C c.2122C>G c.(2122-2124)Ctt>Gtt p.L708V LUAD 3 148760062 148760062 + Silent SNP C C A TCGA-MP-A4TK-01A-11D-A24P-08 TCGA-MP-A4TK-10A-01D-A24P-08 g.chr3:148760062C>A c.2088G>T c.(2086-2088)ggG>ggT p.G696G LUAD 3 148764045 148764045 + Splice_Site SNP G G A TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chr3:148764045G>A c.1894C>T c.(1894-1896)Cgt>Tgt p.R632C LUAD 3 148766766 148766766 + Missense_Mutation SNP T T A TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr3:148766766T>A c.1640A>T c.(1639-1641)cAt>cTt p.H547L LUAD 3 148768041 148768041 + Missense_Mutation SNP T T C TCGA-55-8204-01A-11D-2238-08 TCGA-55-8204-10A-01D-2238-08 g.chr3:148768041T>C c.1595A>G c.(1594-1596)aAt>aGt p.N532S LUAD 3 148789207 148789207 + Silent SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 g.chr3:148789207T>A c.726A>T c.(724-726)ccA>ccT p.P242P LUAD 3 148791089 148791089 + Missense_Mutation SNP T T A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr3:148791089T>A c.550A>T c.(550-552)Agt>Tgt p.S184C LUAD 3 148791111 148791111 + Splice_Site SNP T T C TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr3:148791111T>C c.e5-2 LUAD 3 148802508 148802508 + Missense_Mutation SNP C C G TCGA-86-8278-01A-11D-2284-08 TCGA-86-8278-10A-01D-2284-08 g.chr3:148802508C>G c.189G>C c.(187-189)ttG>ttC p.L63F LUAD 3 148802652 148802652 + Missense_Mutation SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 g.chr3:148802652C>A c.45G>T c.(43-45)caG>caT p.Q15H LUSC 3 148752709 148752709 + Missense_Mutation SNP G G A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 g.chr3:148752709G>A c.2873C>T c.(2872-2874)aCa>aTa p.T958I LUSC 3 148757868 148757868 + Missense_Mutation SNP C C T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 g.chr3:148757868C>T c.2452G>A c.(2452-2454)Gca>Aca p.A818T LUSC 3 148759977 148759977 + Missense_Mutation SNP C C A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 g.chr3:148759977C>A c.2173G>T c.(2173-2175)Gca>Tca p.A725S LUSC 3 148777580 148777580 + Missense_Mutation SNP C C A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 g.chr3:148777580C>A c.1300G>T c.(1300-1302)Gtt>Ttt p.V434F LUSC 3 148786065 148786065 + Missense_Mutation SNP G G C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr3:148786065G>C c.952C>G c.(952-954)Ctt>Gtt p.L318V LUSC 3 148786123 148786123 + Splice_Site SNP C C T TCGA-21-5784-01A-01D-1632-08 TCGA-21-5784-10A-01D-1632-08 g.chr3:148786123C>T c.e8-1 LUSC 3 148789184 148789184 + Nonsense_Mutation SNP C C T TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr3:148789184C>T c.749G>A c.(748-750)tGg>tAg p.W250* OV 3 148802626 148802626 + Missense_Mutation SNP T T C TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 g.chr3:148802626T>C c.71A>G c.(70-72)aAt>aGt p.N24S PRAD 3 148760005 148760005 + Silent SNP A A T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 g.chr3:148760005A>T c.2145T>A c.(2143-2145)atT>atA p.I715I PRAD 3 148765942 148765942 + Missense_Mutation SNP T T C TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 g.chr3:148765942T>C c.1765A>G c.(1765-1767)Atc>Gtc p.I589V PRAD 3 148777552 148777552 + Missense_Mutation SNP G G C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:148777552G>C c.1328C>G c.(1327-1329)gCa>gGa p.A443G PRAD 3 148793758 148793758 + Missense_Mutation SNP T T C TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 g.chr3:148793758T>C c.305A>G c.(304-306)aAt>aGt p.N102S READ 3 148757468 148757468 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:148757468T>G c.2515A>C c.(2515-2517)Atg>Ctg p.M839L READ 3 148768141 148768141 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:148768141T>G c.1495A>C c.(1495-1497)Aaa>Caa p.K499Q READ 3 148789435 148789435 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:148789435C>T c.637G>A c.(637-639)Gaa>Aaa p.E213K READ 3 148792068 148792068 + Nonsense_Mutation SNP C C A TCGA-DY-A1H8-01A-21D-A152-10 TCGA-DY-A1H8-10A-01D-A152-10 g.chr3:148792068C>A c.463G>T c.(463-465)Gaa>Taa p.E155* SARC 3 148792110 148792110 + Missense_Mutation SNP C C T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 g.chr3:148792110C>T c.421G>A c.(421-423)Gct>Act p.A141T SKCM 3 148756980 148756980 + Silent SNP G G A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr3:148756980G>A c.2652C>T c.(2650-2652)tcC>tcT p.S884S SKCM 3 148756981 148756981 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr3:148756981G>A c.2651C>T c.(2650-2652)tCc>tTc p.S884F SKCM 3 148759958 148759958 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 g.chr3:148759958G>A c.2192C>T c.(2191-2193)cCc>cTc p.P731L SKCM 3 148778438 148778438 + Missense_Mutation SNP C C A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 g.chr3:148778438C>A c.1277G>T c.(1276-1278)aGg>aTg p.R426M SKCM 3 148792049 148792049 + Missense_Mutation SNP G G A TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr3:148792049G>A c.482C>T c.(481-483)tCa>tTa p.S161L SKCM 3 148792061 148792061 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr3:148792061C>T c.470G>A c.(469-471)aGa>aAa p.R157K SKCM 3 148792076 148792076 + Missense_Mutation SNP C C T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr3:148792076C>T c.455G>A c.(454-456)gGa>gAa p.G152E SKCM 3 148792128 148792128 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:148792128G>A c.403C>T c.(403-405)Cct>Tct p.P135S SKCM 3 148793736 148793736 + Silent SNP G G A TCGA-EE-A29P-06A-11D-A197-08 TCGA-EE-A29P-10A-01D-A199-08 g.chr3:148793736G>A c.327C>T c.(325-327)ggC>ggT p.G109G

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 3 148802476 148802476 single base substitution G A exon_variant BLCA-CN 3 148802476 148802476 single base substitution G A missense_variant T74M 221C>T BLCA-US 3 148773120 148773120 single base substitution G C exon_variant BLCA-US 3 148773120 148773120 single base substitution G C missense_variant I480M 1440C>G BLCA-US 3 148773120 148773120 single base substitution G C missense_variant I481M 1443C>G BOCA-FR 3 148774293 148774293 single base substitution C T intron_variant BRCA-EU 3 148744372 148744372 insertion of <=200bp - A downstream_gene_variant BRCA-EU 3 148745424 148745424 single base substitution G C downstream_gene_variant BRCA-EU 3 148746121 148746121 single base substitution A G downstream_gene_variant BRCA-EU 3 148747434 148747434 single base substitution G T downstream_gene_variant BRCA-EU 3 148748496 148748496 single base substitution T C 3_prime_UTR_variant BRCA-EU 3 148748496 148748496 single base substitution T C downstream_gene_variant BRCA-EU 3 148748831 148748831 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 148748831 148748831 single base substitution G A downstream_gene_variant BRCA-EU 3 148750447 148750447 insertion of <=200bp - T downstream_gene_variant BRCA-EU 3 148750447 148750447 insertion of <=200bp - T intron_variant BRCA-EU 3 148752010 148752010 single base substitution C G downstream_gene_variant BRCA-EU 3 148752010 148752010 single base substitution C G intron_variant BRCA-EU 3 148752971 148752971 single base substitution A T downstream_gene_variant BRCA-EU 3 148752971 148752971 single base substitution A T intron_variant BRCA-EU 3 148753163 148753163 single base substitution C T downstream_gene_variant BRCA-EU 3 148753163 148753163 single base substitution C T intron_variant BRCA-EU 3 148753529 148753529 single base substitution T A downstream_gene_variant BRCA-EU 3 148753529 148753529 single base substitution T A intron_variant BRCA-EU 3 148754304 148754304 single base substitution G C downstream_gene_variant BRCA-EU 3 148754304 148754304 single base substitution G C intron_variant BRCA-EU 3 148755846 148755846 single base substitution G A downstream_gene_variant BRCA-EU 3 148755846 148755846 single base substitution G A intron_variant BRCA-EU 3 148757265 148757265 single base substitution G A downstream_gene_variant BRCA-EU 3 148757265 148757265 single base substitution G A intron_variant BRCA-EU 3 148758072 148758072 single base substitution G C intron_variant BRCA-EU 3 148758072 148758072 single base substitution G C upstream_gene_variant BRCA-EU 3 148759350 148759350 single base substitution G T exon_variant BRCA-EU 3 148759350 148759350 single base substitution G T missense_variant T236K 707C>A BRCA-EU 3 148759350 148759350 single base substitution G T missense_variant T767K 2300C>A BRCA-EU 3 148759350 148759350 single base substitution G T missense_variant T768K 2303C>A BRCA-EU 3 148759350 148759350 single base substitution G T upstream_gene_variant BRCA-EU 3 148760535 148760535 single base substitution C G intron_variant BRCA-EU 3 148760535 148760535 single base substitution C G upstream_gene_variant BRCA-EU 3 148762048 148762048 single base substitution C G intron_variant BRCA-EU 3 148762048 148762048 single base substitution C G upstream_gene_variant BRCA-EU 3 148762323 148762323 single base substitution C G intron_variant BRCA-EU 3 148762323 148762323 single base substitution C G upstream_gene_variant BRCA-EU 3 148762356 148762356 single base substitution T G intron_variant BRCA-EU 3 148762356 148762356 single base substitution T G upstream_gene_variant BRCA-EU 3 148763290 148763290 single base substitution G C downstream_gene_variant BRCA-EU 3 148763290 148763290 single base substitution G C intron_variant BRCA-EU 3 148763290 148763290 single base substitution G C upstream_gene_variant BRCA-EU 3 148763613 148763613 single base substitution C G downstream_gene_variant BRCA-EU 3 148763613 148763613 single base substitution C G intron_variant BRCA-EU 3 148763613 148763613 single base substitution C G upstream_gene_variant BRCA-EU 3 148766121 148766121 single base substitution T C downstream_gene_variant BRCA-EU 3 148766121 148766121 single base substitution T C intron_variant BRCA-EU 3 148769025 148769025 single base substitution A T intron_variant BRCA-EU 3 148769025 148769025 single base substitution A T upstream_gene_variant BRCA-EU 3 148769308 148769308 single base substitution G C intron_variant BRCA-EU 3 148769308 148769308 single base substitution G C upstream_gene_variant BRCA-EU 3 148769779 148769779 insertion of <=200bp - A intron_variant BRCA-EU 3 148769779 148769779 insertion of <=200bp - A upstream_gene_variant BRCA-EU 3 148770372 148770372 single base substitution C G intron_variant BRCA-EU 3 148770372 148770372 single base substitution C G upstream_gene_variant BRCA-EU 3 148771850 148771850 single base substitution T G intron_variant BRCA-EU 3 148771850 148771850 single base substitution T G upstream_gene_variant BRCA-EU 3 148774306 148774306 single base substitution A C intron_variant BRCA-EU 3 148776190 148776190 single base substitution A G intron_variant BRCA-EU 3 148776220 148776220 single base substitution G T intron_variant BRCA-EU 3 148777444 148777444 single base substitution A C intron_variant BRCA-EU 3 148777946 148777946 single base substitution G A intron_variant BRCA-EU 3 148778585 148778585 single base substitution T C exon_variant BRCA-EU 3 148778585 148778585 single base substitution T C synonymous_variant E407E 1221A>G BRCA-EU 3 148779726 148779726 single base substitution C G intron_variant BRCA-EU 3 148779726 148779726 single base substitution C G upstream_gene_variant BRCA-EU 3 148780171 148780171 single base substitution G C intron_variant BRCA-EU 3 148780171 148780171 single base substitution G C upstream_gene_variant BRCA-EU 3 148780202 148780202 single base substitution A G intron_variant BRCA-EU 3 148780202 148780202 single base substitution A G upstream_gene_variant BRCA-EU 3 148780287 148780287 single base substitution G A intron_variant BRCA-EU 3 148780287 148780287 single base substitution G A upstream_gene_variant BRCA-EU 3 148780548 148780548 single base substitution T A intron_variant BRCA-EU 3 148780548 148780548 single base substitution T A upstream_gene_variant BRCA-EU 3 148780597 148780597 deletion of <=200bp A - intron_variant BRCA-EU 3 148780597 148780597 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 148781599 148781599 deletion of <=200bp A - intron_variant BRCA-EU 3 148781599 148781599 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 148781983 148781983 deletion of <=200bp A - intron_variant BRCA-EU 3 148781983 148781983 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 148783681 148783681 single base substitution G A intron_variant BRCA-EU 3 148785423 148785423 deletion of <=200bp G - intron_variant BRCA-EU 3 148785493 148785493 deletion of <=200bp A - intron_variant BRCA-EU 3 148786588 148786588 single base substitution A G intron_variant BRCA-EU 3 148787049 148787049 single base substitution G C intron_variant BRCA-EU 3 148787654 148787654 single base substitution G T intron_variant BRCA-EU 3 148789194 148789194 single base substitution C A missense_variant A247S 739G>T BRCA-EU 3 148789898 148789898 deletion of <=200bp A - intron_variant BRCA-EU 3 148791354 148791354 single base substitution G A intron_variant BRCA-EU 3 148791557 148791557 single base substitution T G intron_variant BRCA-EU 3 148795134 148795134 single base substitution G A intron_variant BRCA-EU 3 148795920 148795920 deletion of <=200bp A - intron_variant BRCA-EU 3 148796405 148796405 single base substitution G A intron_variant BRCA-EU 3 148797228 148797228 single base substitution A C downstream_gene_variant BRCA-EU 3 148797228 148797228 single base substitution A C intron_variant BRCA-EU 3 148797625 148797625 single base substitution A G downstream_gene_variant BRCA-EU 3 148797625 148797625 single base substitution A G intron_variant BRCA-EU 3 148797945 148797945 single base substitution G C downstream_gene_variant BRCA-EU 3 148797945 148797945 single base substitution G C intron_variant BRCA-EU 3 148800171 148800171 single base substitution G C downstream_gene_variant BRCA-EU 3 148800171 148800171 single base substitution G C intron_variant BRCA-EU 3 148802448 148802448 single base substitution A G intron_variant BRCA-EU 3 148804586 148804586 single base substitution G T upstream_gene_variant BRCA-EU 3 148805157 148805157 single base substitution C T upstream_gene_variant BRCA-EU 3 148805799 148805799 single base substitution G A upstream_gene_variant BRCA-EU 3 148806203 148806203 single base substitution C G upstream_gene_variant BRCA-EU 3 148807533 148807533 single base substitution A G upstream_gene_variant BRCA-EU 3 148809113 148809113 single base substitution A G upstream_gene_variant BRCA-FR 3 148748831 148748831 single base substitution G A 3_prime_UTR_variant BRCA-FR 3 148748831 148748831 single base substitution G A downstream_gene_variant BRCA-FR 3 148757265 148757265 single base substitution G A downstream_gene_variant BRCA-FR 3 148757265 148757265 single base substitution G A intron_variant BRCA-FR 3 148761606 148761606 single base substitution G C intron_variant BRCA-FR 3 148761606 148761606 single base substitution G C upstream_gene_variant BRCA-FR 3 148765474 148765474 single base substitution G C downstream_gene_variant BRCA-FR 3 148765474 148765474 single base substitution G C intron_variant BRCA-FR 3 148771850 148771850 single base substitution T G intron_variant BRCA-FR 3 148771850 148771850 single base substitution T G upstream_gene_variant BRCA-FR 3 148778420 148778420 single base substitution A T intron_variant BRCA-FR 3 148778585 148778585 single base substitution T C exon_variant BRCA-FR 3 148778585 148778585 single base substitution T C synonymous_variant E407E 1221A>G BRCA-FR 3 148786588 148786588 single base substitution A G intron_variant BRCA-FR 3 148789194 148789194 single base substitution C A missense_variant A247S 739G>T BRCA-FR 3 148794701 148794701 single base substitution T C intron_variant BRCA-FR 3 148796405 148796405 single base substitution G A intron_variant BRCA-FR 3 148797945 148797945 single base substitution G C downstream_gene_variant BRCA-FR 3 148797945 148797945 single base substitution G C intron_variant BRCA-UK 3 148745616 148745616 single base substitution C T downstream_gene_variant BRCA-UK 3 148758077 148758077 single base substitution C T intron_variant BRCA-UK 3 148758077 148758077 single base substitution C T upstream_gene_variant BRCA-UK 3 148805612 148805612 single base substitution G A upstream_gene_variant BRCA-US 3 148744285 148744285 single base substitution G C downstream_gene_variant BRCA-US 3 148750037 148750037 single base substitution A C downstream_gene_variant BRCA-US 3 148750037 148750037 single base substitution A C missense_variant I1000M 3000T>G BRCA-US 3 148750037 148750037 single base substitution A C missense_variant I999M 2997T>G BRCA-US 3 148750058 148750058 single base substitution G A downstream_gene_variant BRCA-US 3 148750058 148750058 single base substitution G A synonymous_variant D992D 2976C>T BRCA-US 3 148750058 148750058 single base substitution G A synonymous_variant D993D 2979C>T BRCA-US 3 148782631 148782631 single base substitution G C missense_variant S338C 1013C>G BRCA-US 3 148782631 148782631 single base substitution G C upstream_gene_variant BRCA-US 3 148793804 148793806 deletion of <=200bp GTT - disruptive_inframe_deletion QR86R BTCA-JP 3 148743379 148743379 single base substitution T C downstream_gene_variant BTCA-JP 3 148744795 148744795 single base substitution G A downstream_gene_variant BTCA-JP 3 148777571 148777571 single base substitution C G exon_variant BTCA-JP 3 148777571 148777571 single base substitution C G missense_variant D436H 1306G>C BTCA-JP 3 148777571 148777571 single base substitution C G missense_variant D437H 1309G>C BTCA-JP 3 148778401 148778401 single base substitution T C intron_variant BTCA-JP 3 148792095 148792095 single base substitution G C missense_variant L146V 436C>G CESC-US 3 148756954 148756954 single base substitution G C downstream_gene_variant CESC-US 3 148756954 148756954 single base substitution G C exon_variant CESC-US 3 148756954 148756954 single base substitution G C stop_gained S361* 1082C>G CESC-US 3 148756954 148756954 single base substitution G C stop_gained S892* 2675C>G CESC-US 3 148756954 148756954 single base substitution G C stop_gained S893* 2678C>G CESC-US 3 148778607 148778607 single base substitution G C stop_gained S400* 1199C>G CESC-US 3 148778607 148778607 single base substitution G C upstream_gene_variant CLLE-ES 3 148751076 148751076 single base substitution G A downstream_gene_variant CLLE-ES 3 148751076 148751076 single base substitution G A intron_variant CLLE-ES 3 148809000 148809000 single base substitution A C upstream_gene_variant COAD-US 3 148759325 148759325 single base substitution T C exon_variant COAD-US 3 148759325 148759325 single base substitution T C synonymous_variant A244A 732A>G COAD-US 3 148759325 148759325 single base substitution T C synonymous_variant A775A 2325A>G COAD-US 3 148759325 148759325 single base substitution T C synonymous_variant A776A 2328A>G COAD-US 3 148759325 148759325 single base substitution T C upstream_gene_variant COAD-US 3 148759428 148759428 single base substitution T G exon_variant COAD-US 3 148759428 148759428 single base substitution T G missense_variant K210T 629A>C COAD-US 3 148759428 148759428 single base substitution T G missense_variant K741T 2222A>C COAD-US 3 148759428 148759428 single base substitution T G missense_variant K742T 2225A>C COAD-US 3 148759428 148759428 single base substitution T G upstream_gene_variant COAD-US 3 148766666 148766666 single base substitution T C downstream_gene_variant COAD-US 3 148766666 148766666 single base substitution T C synonymous_variant R44R 132A>G COAD-US 3 148766666 148766666 single base substitution T C synonymous_variant R579R 1737A>G COAD-US 3 148766666 148766666 single base substitution T C synonymous_variant R580R 1740A>G COAD-US 3 148773190 148773190 deletion of <=200bp A - splice_region_variant COAD-US 3 148778603 148778603 single base substitution C A missense_variant E401D 1203G>T COAD-US 3 148778603 148778603 single base substitution C A upstream_gene_variant COAD-US 3 148789069 148789069 single base substitution A G synonymous_variant H288H 864T>C COAD-US 3 148793782 148793782 single base substitution T C missense_variant D94G 281A>G COCA-CN 3 148743251 148743251 single base substitution C T downstream_gene_variant COCA-CN 3 148756963 148756963 single base substitution C A downstream_gene_variant COCA-CN 3 148756963 148756963 single base substitution C A exon_variant COCA-CN 3 148756963 148756963 single base substitution C A missense_variant R358I 1073G>T COCA-CN 3 148756963 148756963 single base substitution C A missense_variant R889I 2666G>T COCA-CN 3 148756963 148756963 single base substitution C A missense_variant R890I 2669G>T COCA-CN 3 148756968 148756968 single base substitution C A downstream_gene_variant COCA-CN 3 148756968 148756968 single base substitution C A exon_variant COCA-CN 3 148756968 148756968 single base substitution C A missense_variant K356N 1068G>T COCA-CN 3 148756968 148756968 single base substitution C A missense_variant K887N 2661G>T COCA-CN 3 148756968 148756968 single base substitution C A missense_variant K888N 2664G>T COCA-CN 3 148757447 148757447 single base substitution T G downstream_gene_variant COCA-CN 3 148757447 148757447 single base substitution T G exon_variant COCA-CN 3 148757447 148757447 single base substitution T G synonymous_variant R314R 940A>C COCA-CN 3 148757447 148757447 single base substitution T G synonymous_variant R845R 2533A>C COCA-CN 3 148757447 148757447 single base substitution T G synonymous_variant R846R 2536A>C COCA-CN 3 148760077 148760077 single base substitution C A missense_variant R155S 465G>T COCA-CN 3 148760077 148760077 single base substitution C A missense_variant R690S 2070G>T COCA-CN 3 148760077 148760077 single base substitution C A missense_variant R691S 2073G>T COCA-CN 3 148760077 148760077 single base substitution C A upstream_gene_variant COCA-CN 3 148773114 148773114 single base substitution C T exon_variant COCA-CN 3 148773114 148773114 single base substitution C T synonymous_variant P482P 1446G>A COCA-CN 3 148773114 148773114 single base substitution C T synonymous_variant P483P 1449G>A COCA-CN 3 148778319 148778319 single base substitution C T intron_variant COCA-CN 3 148778671 148778671 single base substitution T A intron_variant COCA-CN 3 148778671 148778671 single base substitution T A upstream_gene_variant COCA-CN 3 148789104 148789104 single base substitution T G missense_variant N277H 829A>C EOPC-DE 3 148794239 148794239 single base substitution C T intron_variant ESAD-UK 3 148746569 148746569 single base substitution G C downstream_gene_variant ESAD-UK 3 148748019 148748019 single base substitution T C 3_prime_UTR_variant ESAD-UK 3 148748019 148748019 single base substitution T C downstream_gene_variant ESAD-UK 3 148749181 148749181 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 148749181 148749181 single base substitution C T downstream_gene_variant ESAD-UK 3 148749181 148749181 single base substitution C T intron_variant ESAD-UK 3 148749182 148749182 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 3 148749182 148749182 insertion of <=200bp - A downstream_gene_variant ESAD-UK 3 148749182 148749182 insertion of <=200bp - A intron_variant ESAD-UK 3 148752102 148752102 single base substitution T G downstream_gene_variant ESAD-UK 3 148752102 148752102 single base substitution T G intron_variant ESAD-UK 3 148754732 148754732 single base substitution G A downstream_gene_variant ESAD-UK 3 148754732 148754732 single base substitution G A intron_variant ESAD-UK 3 148758053 148758053 single base substitution T A intron_variant ESAD-UK 3 148758053 148758053 single base substitution T A upstream_gene_variant ESAD-UK 3 148768346 148768346 single base substitution T A intron_variant ESAD-UK 3 148768346 148768346 single base substitution T A upstream_gene_variant ESAD-UK 3 148768544 148768544 single base substitution G C intron_variant ESAD-UK 3 148768544 148768544 single base substitution G C upstream_gene_variant ESAD-UK 3 148769685 148769685 single base substitution C A intron_variant ESAD-UK 3 148769685 148769685 single base substitution C A upstream_gene_variant ESAD-UK 3 148770278 148770278 single base substitution C G intron_variant ESAD-UK 3 148770278 148770278 single base substitution C G upstream_gene_variant ESAD-UK 3 148772715 148772715 single base substitution T C intron_variant ESAD-UK 3 148772715 148772715 single base substitution T C upstream_gene_variant ESAD-UK 3 148773131 148773131 single base substitution T C exon_variant ESAD-UK 3 148773131 148773131 single base substitution T C missense_variant T477A 1429A>G ESAD-UK 3 148773131 148773131 single base substitution T C missense_variant T478A 1432A>G ESAD-UK 3 148780660 148780660 single base substitution A C intron_variant ESAD-UK 3 148780660 148780660 single base substitution A C upstream_gene_variant ESAD-UK 3 148783700 148783700 single base substitution G A intron_variant ESAD-UK 3 148783772 148783772 single base substitution T G intron_variant ESAD-UK 3 148784068 148784068 single base substitution G C intron_variant ESAD-UK 3 148785725 148785725 single base substitution G T intron_variant ESAD-UK 3 148785824 148785824 single base substitution G A intron_variant ESAD-UK 3 148788209 148788209 single base substitution A G intron_variant ESAD-UK 3 148790575 148790575 insertion of <=200bp - T intron_variant ESAD-UK 3 148792855 148792855 single base substitution G T intron_variant ESAD-UK 3 148793781 148793783 deletion of <=200bp ATC - inframe_deletion D94 ESAD-UK 3 148794227 148794227 single base substitution G A intron_variant ESAD-UK 3 148797482 148797482 single base substitution C A downstream_gene_variant ESAD-UK 3 148797482 148797482 single base substitution C A intron_variant ESAD-UK 3 148797498 148797498 single base substitution G A downstream_gene_variant ESAD-UK 3 148797498 148797498 single base substitution G A intron_variant ESAD-UK 3 148805217 148805217 single base substitution A C upstream_gene_variant ESAD-UK 3 148805786 148805786 single base substitution G T upstream_gene_variant ESAD-UK 3 148807184 148807184 single base substitution G A upstream_gene_variant ESAD-UK 3 148808737 148808737 single base substitution C T upstream_gene_variant ESCA-CN 3 148786109 148786109 single base substitution G T missense_variant T303K 908C>A GBM-US 3 148768105 148768105 single base substitution C T exon_variant GBM-US 3 148768105 148768105 single base substitution C T missense_variant G510S 1528G>A GBM-US 3 148768105 148768105 single base substitution C T missense_variant G511S 1531G>A GBM-US 3 148768105 148768105 single base substitution C T upstream_gene_variant GBM-US 3 148802611 148802611 single base substitution G C exon_variant GBM-US 3 148802611 148802611 single base substitution G C stop_gained S29* 86C>G GBM-US 3 148804115 148804115 single base substitution C T exon_variant GBM-US 3 148804115 148804115 single base substitution C T stop_gained W3* 9G>A KIRC-US 3 148766680 148766680 single base substitution A T downstream_gene_variant KIRC-US 3 148766680 148766680 single base substitution A T missense_variant L40I 118T>A KIRC-US 3 148766680 148766680 single base substitution A T missense_variant L575I 1723T>A KIRC-US 3 148766680 148766680 single base substitution A T missense_variant L576I 1726T>A KIRC-US 3 148789184 148789184 single base substitution C T stop_gained W250* 749G>A LAML-KR 3 148793842 148793842 single base substitution A G splice_region_variant LGG-US 3 148744693 148744693 single base substitution G C downstream_gene_variant LGG-US 3 148792096 148792096 single base substitution A C synonymous_variant P145P 435T>G LICA-FR 3 148744661 148744661 single base substitution T G downstream_gene_variant LICA-FR 3 148746493 148746498 deletion of <=200bp TTTTTT - downstream_gene_variant LICA-FR 3 148764126 148764126 single base substitution T C downstream_gene_variant LICA-FR 3 148764126 148764126 single base substitution T C intron_variant LICA-FR 3 148764126 148764126 single base substitution T C upstream_gene_variant LICA-FR 3 148768907 148768907 single base substitution A G intron_variant LICA-FR 3 148768907 148768907 single base substitution A G upstream_gene_variant LICA-FR 3 148777515 148777515 single base substitution C T exon_variant LICA-FR 3 148777515 148777515 single base substitution C T missense_variant M454I 1362G>A LICA-FR 3 148777515 148777515 single base substitution C T missense_variant M455I 1365G>A LICA-FR 3 148797609 148797609 single base substitution A C downstream_gene_variant LICA-FR 3 148797609 148797609 single base substitution A C intron_variant LICA-FR 3 148797956 148797956 single base substitution C A downstream_gene_variant LICA-FR 3 148797956 148797956 single base substitution C A intron_variant LICA-FR 3 148801616 148801616 single base substitution G T intron_variant LINC-JP 3 148744351 148744351 single base substitution A C downstream_gene_variant LINC-JP 3 148744372 148744372 deletion of <=200bp A - downstream_gene_variant LINC-JP 3 148757875 148757875 single base substitution T C downstream_gene_variant LINC-JP 3 148757875 148757875 single base substitution T C exon_variant LINC-JP 3 148757875 148757875 single base substitution T C synonymous_variant E283E 849A>G LINC-JP 3 148757875 148757875 single base substitution T C synonymous_variant E814E 2442A>G LINC-JP 3 148757875 148757875 single base substitution T C synonymous_variant E815E 2445A>G LINC-JP 3 148763937 148763937 single base substitution T C downstream_gene_variant LINC-JP 3 148763937 148763937 single base substitution T C missense_variant I132V 394A>G LINC-JP 3 148763937 148763937 single base substitution T C missense_variant I667V 1999A>G LINC-JP 3 148763937 148763937 single base substitution T C missense_variant I668V 2002A>G LINC-JP 3 148763937 148763937 single base substitution T C upstream_gene_variant LINC-JP 3 148766070 148766070 single base substitution A T downstream_gene_variant LINC-JP 3 148766070 148766070 single base substitution A T intron_variant LINC-JP 3 148773109 148773109 single base substitution G A exon_variant LINC-JP 3 148773109 148773109 single base substitution G A missense_variant S484F 1451C>T LINC-JP 3 148773109 148773109 single base substitution G A missense_variant S485F 1454C>T LINC-JP 3 148779795 148779795 single base substitution A C intron_variant LINC-JP 3 148779795 148779795 single base substitution A C upstream_gene_variant LINC-JP 3 148781227 148781227 single base substitution C A missense_variant R384L 1151G>T LINC-JP 3 148781227 148781227 single base substitution C A upstream_gene_variant LINC-JP 3 148793324 148793324 single base substitution T G intron_variant LIRI-JP 3 148743026 148743026 single base substitution G A downstream_gene_variant LIRI-JP 3 148744307 148744307 single base substitution A G downstream_gene_variant LIRI-JP 3 148744630 148744630 single base substitution G A downstream_gene_variant LIRI-JP 3 148746963 148746963 single base substitution A C downstream_gene_variant LIRI-JP 3 148747558 148747558 single base substitution A G downstream_gene_variant LIRI-JP 3 148748088 148748088 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 148748088 148748088 single base substitution A G downstream_gene_variant LIRI-JP 3 148750311 148750311 single base substitution C G downstream_gene_variant LIRI-JP 3 148750311 148750311 single base substitution C G intron_variant LIRI-JP 3 148752297 148752297 single base substitution T C downstream_gene_variant LIRI-JP 3 148752297 148752297 single base substitution T C intron_variant LIRI-JP 3 148752308 148752308 single base substitution C A downstream_gene_variant LIRI-JP 3 148752308 148752308 single base substitution C A intron_variant LIRI-JP 3 148752407 148752407 single base substitution T G downstream_gene_variant LIRI-JP 3 148752407 148752407 single base substitution T G intron_variant LIRI-JP 3 148756554 148756554 single base substitution C T downstream_gene_variant LIRI-JP 3 148756554 148756554 single base substitution C T intron_variant LIRI-JP 3 148756561 148756561 single base substitution A C downstream_gene_variant LIRI-JP 3 148756561 148756561 single base substitution A C intron_variant LIRI-JP 3 148759647 148759647 single base substitution T C exon_variant LIRI-JP 3 148759647 148759647 single base substitution T C intron_variant LIRI-JP 3 148759647 148759647 single base substitution T C upstream_gene_variant LIRI-JP 3 148763346 148763346 single base substitution T C downstream_gene_variant LIRI-JP 3 148763346 148763346 single base substitution T C intron_variant LIRI-JP 3 148763346 148763346 single base substitution T C upstream_gene_variant LIRI-JP 3 148765049 148765049 single base substitution T C downstream_gene_variant LIRI-JP 3 148765049 148765049 single base substitution T C intron_variant LIRI-JP 3 148765648 148765648 single base substitution T C downstream_gene_variant LIRI-JP 3 148765648 148765648 single base substitution T C intron_variant LIRI-JP 3 148768606 148768606 single base substitution A G intron_variant LIRI-JP 3 148768606 148768606 single base substitution A G upstream_gene_variant LIRI-JP 3 148772645 148772645 single base substitution T C intron_variant LIRI-JP 3 148772645 148772645 single base substitution T C upstream_gene_variant LIRI-JP 3 148773163 148773163 deletion of <=200bp T - exon_variant LIRI-JP 3 148773163 148773163 deletion of <=200bp T - frameshift_variant K466 LIRI-JP 3 148773163 148773163 deletion of <=200bp T - frameshift_variant K467 LIRI-JP 3 148775391 148775391 single base substitution T C intron_variant LIRI-JP 3 148775644 148775644 single base substitution A G intron_variant LIRI-JP 3 148776438 148776438 single base substitution T C intron_variant LIRI-JP 3 148778335 148778335 single base substitution T C intron_variant LIRI-JP 3 148778507 148778507 single base substitution G A intron_variant LIRI-JP 3 148780171 148780171 single base substitution G T intron_variant LIRI-JP 3 148780171 148780171 single base substitution G T upstream_gene_variant LIRI-JP 3 148781089 148781089 single base substitution C T intron_variant LIRI-JP 3 148781089 148781089 single base substitution C T upstream_gene_variant LIRI-JP 3 148782026 148782026 single base substitution T C intron_variant LIRI-JP 3 148782026 148782026 single base substitution T C upstream_gene_variant LIRI-JP 3 148784091 148784091 single base substitution C G intron_variant LIRI-JP 3 148784572 148784572 single base substitution C A intron_variant LIRI-JP 3 148784976 148784976 single base substitution T C intron_variant LIRI-JP 3 148785632 148785632 single base substitution A C intron_variant LIRI-JP 3 148789920 148789920 single base substitution T C intron_variant LIRI-JP 3 148794268 148794268 single base substitution T C intron_variant LIRI-JP 3 148795154 148795154 single base substitution T C intron_variant LIRI-JP 3 148797251 148797304 deletion of <=200bp TATCTCATTAAAAAGTATATAATTATAAATCTTTGTTGATAGGTATACTACATA - downstream_gene_variant LIRI-JP 3 148797251 148797304 deletion of <=200bp TATCTCATTAAAAAGTATATAATTATAAATCTTTGTTGATAGGTATACTACATA - intron_variant LIRI-JP 3 148798278 148798281 deletion of <=200bp TATC - downstream_gene_variant LIRI-JP 3 148798278 148798281 deletion of <=200bp TATC - intron_variant LIRI-JP 3 148798480 148798480 single base substitution T C downstream_gene_variant LIRI-JP 3 148798480 148798480 single base substitution T C intron_variant LIRI-JP 3 148798560 148798560 single base substitution C T downstream_gene_variant LIRI-JP 3 148798560 148798560 single base substitution C T intron_variant LIRI-JP 3 148798837 148798837 single base substitution A G downstream_gene_variant LIRI-JP 3 148798837 148798837 single base substitution A G intron_variant LIRI-JP 3 148800501 148800501 single base substitution T C downstream_gene_variant LIRI-JP 3 148800501 148800501 single base substitution T C intron_variant LIRI-JP 3 148802839 148802839 single base substitution G T intron_variant LIRI-JP 3 148805635 148805635 single base substitution G T upstream_gene_variant LIRI-JP 3 148806161 148806161 single base substitution A C upstream_gene_variant LIRI-JP 3 148806383 148806383 single base substitution G A upstream_gene_variant LIRI-JP 3 148807460 148807460 single base substitution T A upstream_gene_variant LIRI-JP 3 148809305 148809305 single base substitution C T upstream_gene_variant LUSC-KR 3 148747566 148747566 single base substitution T A downstream_gene_variant LUSC-KR 3 148748252 148748252 single base substitution A G 3_prime_UTR_variant LUSC-KR 3 148748252 148748252 single base substitution A G downstream_gene_variant LUSC-KR 3 148750574 148750574 single base substitution G A downstream_gene_variant LUSC-KR 3 148750574 148750574 single base substitution G A intron_variant LUSC-KR 3 148753645 148753645 single base substitution C T downstream_gene_variant LUSC-KR 3 148753645 148753645 single base substitution C T intron_variant LUSC-KR 3 148754605 148754605 single base substitution T C downstream_gene_variant LUSC-KR 3 148754605 148754605 single base substitution T C intron_variant LUSC-KR 3 148757959 148757959 single base substitution C G exon_variant LUSC-KR 3 148757959 148757959 single base substitution C G intron_variant LUSC-KR 3 148759392 148759392 single base substitution G A exon_variant LUSC-KR 3 148759392 148759392 single base substitution G A missense_variant S222L 665C>T LUSC-KR 3 148759392 148759392 single base substitution G A missense_variant S753L 2258C>T LUSC-KR 3 148759392 148759392 single base substitution G A missense_variant S754L 2261C>T LUSC-KR 3 148759392 148759392 single base substitution G A upstream_gene_variant LUSC-KR 3 148764650 148764650 single base substitution C A downstream_gene_variant LUSC-KR 3 148764650 148764650 single base substitution C A intron_variant LUSC-KR 3 148764650 148764650 single base substitution C A upstream_gene_variant LUSC-KR 3 148764670 148764670 single base substitution A C downstream_gene_variant LUSC-KR 3 148764670 148764670 single base substitution A C intron_variant LUSC-KR 3 148764670 148764670 single base substitution A C upstream_gene_variant LUSC-KR 3 148770955 148770955 single base substitution C G intron_variant LUSC-KR 3 148770955 148770955 single base substitution C G upstream_gene_variant LUSC-KR 3 148776357 148776357 single base substitution C T intron_variant LUSC-KR 3 148776360 148776360 single base substitution C T intron_variant LUSC-KR 3 148776437 148776437 single base substitution C G intron_variant LUSC-KR 3 148776510 148776510 single base substitution C A intron_variant LUSC-KR 3 148780267 148780267 single base substitution T C intron_variant LUSC-KR 3 148780267 148780267 single base substitution T C upstream_gene_variant LUSC-KR 3 148786144 148786144 single base substitution T C intron_variant LUSC-KR 3 148787911 148787911 single base substitution C A intron_variant LUSC-KR 3 148793561 148793561 single base substitution G C intron_variant LUSC-KR 3 148794019 148794019 single base substitution T C intron_variant LUSC-KR 3 148794577 148794577 single base substitution A T intron_variant LUSC-KR 3 148794939 148794939 single base substitution G A intron_variant LUSC-KR 3 148796815 148796815 single base substitution G C downstream_gene_variant LUSC-KR 3 148796815 148796815 single base substitution G C intron_variant LUSC-KR 3 148800706 148800706 single base substitution T C downstream_gene_variant LUSC-KR 3 148800706 148800706 single base substitution T C intron_variant LUSC-KR 3 148807359 148807359 single base substitution A G upstream_gene_variant LUSC-KR 3 148807361 148807361 single base substitution A G upstream_gene_variant LUSC-KR 3 148807363 148807363 single base substitution A G upstream_gene_variant LUSC-KR 3 148808531 148808531 single base substitution C A upstream_gene_variant LUSC-US 3 148752709 148752709 single base substitution G A downstream_gene_variant LUSC-US 3 148752709 148752709 single base substitution G A missense_variant T957I 2870C>T LUSC-US 3 148752709 148752709 single base substitution G A missense_variant T958I 2873C>T LUSC-US 3 148757868 148757868 single base substitution C T downstream_gene_variant LUSC-US 3 148757868 148757868 single base substitution C T exon_variant LUSC-US 3 148757868 148757868 single base substitution C T missense_variant A286T 856G>A LUSC-US 3 148757868 148757868 single base substitution C T missense_variant A817T 2449G>A LUSC-US 3 148757868 148757868 single base substitution C T missense_variant A818T 2452G>A LUSC-US 3 148759977 148759977 single base substitution C A missense_variant A189S 565G>T LUSC-US 3 148759977 148759977 single base substitution C A missense_variant A724S 2170G>T LUSC-US 3 148759977 148759977 single base substitution C A missense_variant A725S 2173G>T LUSC-US 3 148759977 148759977 single base substitution C A upstream_gene_variant LUSC-US 3 148777580 148777580 single base substitution C A exon_variant LUSC-US 3 148777580 148777580 single base substitution C A missense_variant V433F 1297G>T LUSC-US 3 148777580 148777580 single base substitution C A missense_variant V434F 1300G>T LUSC-US 3 148786065 148786065 single base substitution G C missense_variant L318V 952C>G LUSC-US 3 148786123 148786123 single base substitution C T splice_acceptor_variant LUSC-US 3 148789184 148789184 single base substitution C T stop_gained W250* 749G>A MALY-DE 3 148743731 148743731 single base substitution G C downstream_gene_variant MALY-DE 3 148751035 148751035 single base substitution A G downstream_gene_variant MALY-DE 3 148751035 148751035 single base substitution A G intron_variant MALY-DE 3 148751528 148751528 single base substitution C T downstream_gene_variant MALY-DE 3 148751528 148751528 single base substitution C T intron_variant MALY-DE 3 148763482 148763482 single base substitution T C downstream_gene_variant MALY-DE 3 148763482 148763482 single base substitution T C intron_variant MALY-DE 3 148763482 148763482 single base substitution T C upstream_gene_variant MALY-DE 3 148765849 148765849 single base substitution G A downstream_gene_variant MALY-DE 3 148765849 148765849 single base substitution G A missense_variant R619C 1855C>T MALY-DE 3 148765849 148765849 single base substitution G A missense_variant R620C 1858C>T MALY-DE 3 148765849 148765849 single base substitution G A missense_variant R84C 250C>T MALY-DE 3 148772279 148772279 single base substitution A C intron_variant MALY-DE 3 148772279 148772279 single base substitution A C upstream_gene_variant MALY-DE 3 148777119 148777119 single base substitution A G intron_variant MALY-DE 3 148778513 148778513 single base substitution A C intron_variant MALY-DE 3 148779850 148779850 single base substitution A T intron_variant MALY-DE 3 148779850 148779850 single base substitution A T upstream_gene_variant MALY-DE 3 148785474 148785474 insertion of <=200bp - A intron_variant MALY-DE 3 148793605 148793605 single base substitution C T intron_variant MALY-DE 3 148802680 148802680 deletion of <=200bp T - splice_region_variant MALY-DE 3 148808161 148808161 single base substitution C T upstream_gene_variant MELA-AU 3 148743612 148743612 single base substitution G C downstream_gene_variant MELA-AU 3 148746325 148746325 single base substitution C T downstream_gene_variant MELA-AU 3 148747525 148747525 single base substitution T A downstream_gene_variant MELA-AU 3 148747611 148747611 single base substitution A G downstream_gene_variant MELA-AU 3 148748819 148748819 single base substitution A T 3_prime_UTR_variant MELA-AU 3 148748819 148748819 single base substitution A T downstream_gene_variant MELA-AU 3 148749830 148749830 single base substitution T C 3_prime_UTR_variant MELA-AU 3 148749830 148749830 single base substitution T C downstream_gene_variant MELA-AU 3 148749830 148749830 single base substitution T C intron_variant MELA-AU 3 148751154 148751154 single base substitution C T downstream_gene_variant MELA-AU 3 148751154 148751154 single base substitution C T intron_variant MELA-AU 3 148751439 148751439 single base substitution A G downstream_gene_variant MELA-AU 3 148751439 148751439 single base substitution A G intron_variant MELA-AU 3 148752805 148752805 single base substitution G C intron_variant MELA-AU 3 148752968 148752969 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 148752968 148752969 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 148753431 148753431 single base substitution G A downstream_gene_variant MELA-AU 3 148753431 148753431 single base substitution G A intron_variant MELA-AU 3 148753764 148753764 single base substitution T A downstream_gene_variant MELA-AU 3 148753764 148753764 single base substitution T A intron_variant MELA-AU 3 148754211 148754211 single base substitution G A downstream_gene_variant MELA-AU 3 148754211 148754211 single base substitution G A intron_variant MELA-AU 3 148754443 148754443 single base substitution C T downstream_gene_variant MELA-AU 3 148754443 148754443 single base substitution C T intron_variant MELA-AU 3 148754820 148754820 single base substitution G A downstream_gene_variant MELA-AU 3 148754820 148754820 single base substitution G A intron_variant MELA-AU 3 148755343 148755343 single base substitution A T downstream_gene_variant MELA-AU 3 148755343 148755343 single base substitution A T intron_variant MELA-AU 3 148756980 148756980 single base substitution G A downstream_gene_variant MELA-AU 3 148756980 148756980 single base substitution G A exon_variant MELA-AU 3 148756980 148756980 single base substitution G A synonymous_variant S352S 1056C>T MELA-AU 3 148756980 148756980 single base substitution G A synonymous_variant S883S 2649C>T MELA-AU 3 148756980 148756980 single base substitution G A synonymous_variant S884S 2652C>T MELA-AU 3 148757130 148757132 deletion of <=200bp ATG - downstream_gene_variant MELA-AU 3 148757130 148757132 deletion of <=200bp ATG - intron_variant MELA-AU 3 148757139 148757139 single base substitution G A downstream_gene_variant MELA-AU 3 148757139 148757139 single base substitution G A intron_variant MELA-AU 3 148757742 148757742 single base substitution G A downstream_gene_variant MELA-AU 3 148757742 148757742 single base substitution G A intron_variant MELA-AU 3 148758143 148758143 single base substitution G A intron_variant MELA-AU 3 148758143 148758143 single base substitution G A upstream_gene_variant MELA-AU 3 148758791 148758791 single base substitution A G intron_variant MELA-AU 3 148758791 148758791 single base substitution A G upstream_gene_variant MELA-AU 3 148759168 148759169 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 148759168 148759169 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 148759260 148759260 single base substitution C T intron_variant MELA-AU 3 148759260 148759260 single base substitution C T upstream_gene_variant MELA-AU 3 148759492 148759492 single base substitution G A exon_variant MELA-AU 3 148759492 148759492 single base substitution G A intron_variant MELA-AU 3 148759492 148759492 single base substitution G A upstream_gene_variant MELA-AU 3 148759932 148759932 single base substitution G A intron_variant MELA-AU 3 148759932 148759932 single base substitution G A upstream_gene_variant MELA-AU 3 148760561 148760561 single base substitution A G intron_variant MELA-AU 3 148760561 148760561 single base substitution A G upstream_gene_variant MELA-AU 3 148761020 148761020 single base substitution A C intron_variant MELA-AU 3 148761020 148761020 single base substitution A C upstream_gene_variant MELA-AU 3 148761950 148761950 single base substitution T C intron_variant MELA-AU 3 148761950 148761950 single base substitution T C upstream_gene_variant MELA-AU 3 148762005 148762015 deletion of <=200bp TAACACCTAGT - intron_variant MELA-AU 3 148762005 148762015 deletion of <=200bp TAACACCTAGT - upstream_gene_variant MELA-AU 3 148762500 148762500 single base substitution A G intron_variant MELA-AU 3 148762500 148762500 single base substitution A G upstream_gene_variant MELA-AU 3 148762751 148762751 single base substitution A C intron_variant MELA-AU 3 148762751 148762751 single base substitution A C upstream_gene_variant MELA-AU 3 148763590 148763590 single base substitution G A downstream_gene_variant MELA-AU 3 148763590 148763590 single base substitution G A intron_variant MELA-AU 3 148763590 148763590 single base substitution G A upstream_gene_variant MELA-AU 3 148764859 148764859 single base substitution C T downstream_gene_variant MELA-AU 3 148764859 148764859 single base substitution C T intron_variant MELA-AU 3 148765569 148765569 single base substitution C A downstream_gene_variant MELA-AU 3 148765569 148765569 single base substitution C A intron_variant MELA-AU 3 148766261 148766261 single base substitution G A downstream_gene_variant MELA-AU 3 148766261 148766261 single base substitution G A intron_variant MELA-AU 3 148766262 148766262 single base substitution G A downstream_gene_variant MELA-AU 3 148766262 148766262 single base substitution G A intron_variant MELA-AU 3 148766340 148766340 single base substitution G A downstream_gene_variant MELA-AU 3 148766340 148766340 single base substitution G A intron_variant MELA-AU 3 148766568 148766568 single base substitution A G downstream_gene_variant MELA-AU 3 148766568 148766568 single base substitution A G intron_variant MELA-AU 3 148766809 148766809 single base substitution G A downstream_gene_variant MELA-AU 3 148766809 148766809 single base substitution G A intron_variant MELA-AU 3 148766848 148766848 single base substitution G A downstream_gene_variant MELA-AU 3 148766848 148766848 single base substitution G A intron_variant MELA-AU 3 148768674 148768674 single base substitution C T intron_variant MELA-AU 3 148768674 148768674 single base substitution C T upstream_gene_variant MELA-AU 3 148768893 148768893 single base substitution G A intron_variant MELA-AU 3 148768893 148768893 single base substitution G A upstream_gene_variant MELA-AU 3 148769048 148769048 single base substitution G T intron_variant MELA-AU 3 148769048 148769048 single base substitution G T upstream_gene_variant MELA-AU 3 148769704 148769705 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 148769704 148769705 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 148770865 148770865 single base substitution G A intron_variant MELA-AU 3 148770865 148770865 single base substitution G A upstream_gene_variant MELA-AU 3 148770878 148770878 single base substitution G A intron_variant MELA-AU 3 148770878 148770878 single base substitution G A upstream_gene_variant MELA-AU 3 148770945 148770945 single base substitution G A intron_variant MELA-AU 3 148770945 148770945 single base substitution G A upstream_gene_variant MELA-AU 3 148771233 148771233 single base substitution C T intron_variant MELA-AU 3 148771233 148771233 single base substitution C T upstream_gene_variant MELA-AU 3 148771830 148771830 single base substitution A C intron_variant MELA-AU 3 148771830 148771830 single base substitution A C upstream_gene_variant MELA-AU 3 148772149 148772149 single base substitution G A intron_variant MELA-AU 3 148772149 148772149 single base substitution G A upstream_gene_variant MELA-AU 3 148772231 148772231 single base substitution A C intron_variant MELA-AU 3 148772231 148772231 single base substitution A C upstream_gene_variant MELA-AU 3 148772478 148772478 single base substitution G A intron_variant MELA-AU 3 148772478 148772478 single base substitution G A upstream_gene_variant MELA-AU 3 148773594 148773594 single base substitution G A intron_variant MELA-AU 3 148774184 148774184 single base substitution T C intron_variant MELA-AU 3 148775111 148775111 single base substitution G A intron_variant MELA-AU 3 148775319 148775319 single base substitution G A intron_variant MELA-AU 3 148775867 148775867 single base substitution T C intron_variant MELA-AU 3 148776091 148776091 single base substitution G A intron_variant MELA-AU 3 148776779 148776780 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 148776992 148776992 single base substitution G C intron_variant MELA-AU 3 148777336 148777336 single base substitution G A intron_variant MELA-AU 3 148777886 148777886 single base substitution A G intron_variant MELA-AU 3 148778392 148778392 single base substitution C T intron_variant MELA-AU 3 148778653 148778653 single base substitution T A splice_region_variant MELA-AU 3 148778653 148778653 single base substitution T A upstream_gene_variant MELA-AU 3 148778758 148778758 single base substitution G A intron_variant MELA-AU 3 148778758 148778758 single base substitution G A upstream_gene_variant MELA-AU 3 148779549 148779549 single base substitution G A intron_variant MELA-AU 3 148779549 148779549 single base substitution G A upstream_gene_variant MELA-AU 3 148779606 148779606 single base substitution G A intron_variant MELA-AU 3 148779606 148779606 single base substitution G A upstream_gene_variant MELA-AU 3 148780114 148780114 single base substitution G A intron_variant MELA-AU 3 148780114 148780114 single base substitution G A upstream_gene_variant MELA-AU 3 148780602 148780602 single base substitution A T intron_variant MELA-AU 3 148780602 148780602 single base substitution A T upstream_gene_variant MELA-AU 3 148780676 148780676 single base substitution A G intron_variant MELA-AU 3 148780676 148780676 single base substitution A G upstream_gene_variant MELA-AU 3 148781032 148781033 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 3 148781032 148781033 multiple base substitution (>=2bp and <=200bp) AG TA upstream_gene_variant MELA-AU 3 148782553 148782554 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 148782553 148782554 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 148782653 148782654 multiple base substitution (>=2bp and <=200bp) CC AA stop_gained E331* 991G>T MELA-AU 3 148782653 148782654 multiple base substitution (>=2bp and <=200bp) CC AA upstream_gene_variant MELA-AU 3 148783814 148783814 single base substitution G A intron_variant MELA-AU 3 148784249 148784249 single base substitution G A intron_variant MELA-AU 3 148784286 148784286 single base substitution G A intron_variant MELA-AU 3 148784582 148784582 single base substitution G A intron_variant MELA-AU 3 148785729 148785729 single base substitution G A intron_variant MELA-AU 3 148785929 148785929 single base substitution G A intron_variant MELA-AU 3 148786081 148786081 single base substitution G A synonymous_variant F312F 936C>T MELA-AU 3 148786160 148786160 single base substitution G A intron_variant MELA-AU 3 148786457 148786457 single base substitution G A intron_variant MELA-AU 3 148786530 148786530 single base substitution A T intron_variant MELA-AU 3 148786995 148786995 single base substitution A T intron_variant MELA-AU 3 148787195 148787195 single base substitution G A intron_variant MELA-AU 3 148787780 148787780 single base substitution A G intron_variant MELA-AU 3 148787981 148787981 single base substitution A T intron_variant MELA-AU 3 148788045 148788045 single base substitution G A intron_variant MELA-AU 3 148788147 148788147 single base substitution G A intron_variant MELA-AU 3 148789592 148789592 single base substitution G T intron_variant MELA-AU 3 148789625 148789625 single base substitution G A intron_variant MELA-AU 3 148789734 148789734 single base substitution G A intron_variant MELA-AU 3 148791720 148791720 single base substitution G A intron_variant MELA-AU 3 148791845 148791845 single base substitution G A intron_variant MELA-AU 3 148792337 148792337 single base substitution G A intron_variant MELA-AU 3 148792749 148792749 single base substitution G A intron_variant MELA-AU 3 148792872 148792872 single base substitution G A intron_variant MELA-AU 3 148792957 148792957 single base substitution G A intron_variant MELA-AU 3 148793027 148793039 deletion of <=200bp AACCTCTGATATA - intron_variant MELA-AU 3 148793325 148793325 single base substitution C G intron_variant MELA-AU 3 148793778 148793778 single base substitution C T synonymous_variant K95K 285G>A MELA-AU 3 148794229 148794229 single base substitution G A intron_variant MELA-AU 3 148795130 148795130 single base substitution A T intron_variant MELA-AU 3 148796367 148796367 single base substitution G A intron_variant MELA-AU 3 148796637 148796637 single base substitution C T downstream_gene_variant MELA-AU 3 148796637 148796637 single base substitution C T intron_variant MELA-AU 3 148797351 148797351 single base substitution G A downstream_gene_variant MELA-AU 3 148797351 148797351 single base substitution G A intron_variant MELA-AU 3 148797981 148797981 single base substitution G A downstream_gene_variant MELA-AU 3 148797981 148797981 single base substitution G A intron_variant MELA-AU 3 148799029 148799029 single base substitution C G downstream_gene_variant MELA-AU 3 148799029 148799029 single base substitution C G intron_variant MELA-AU 3 148799620 148799620 single base substitution G A downstream_gene_variant MELA-AU 3 148799620 148799620 single base substitution G A intron_variant MELA-AU 3 148800486 148800486 single base substitution A G downstream_gene_variant MELA-AU 3 148800486 148800486 single base substitution A G intron_variant MELA-AU 3 148801112 148801112 single base substitution G A downstream_gene_variant MELA-AU 3 148801112 148801112 single base substitution G A intron_variant MELA-AU 3 148801510 148801510 single base substitution A C exon_variant MELA-AU 3 148801510 148801510 single base substitution A C intron_variant MELA-AU 3 148801693 148801693 single base substitution G A intron_variant MELA-AU 3 148801714 148801714 single base substitution A G intron_variant MELA-AU 3 148802020 148802020 single base substitution G A intron_variant MELA-AU 3 148802898 148802898 single base substitution G A intron_variant MELA-AU 3 148804003 148804003 single base substitution A G intron_variant MELA-AU 3 148804005 148804005 single base substitution T A intron_variant MELA-AU 3 148804472 148804472 single base substitution C T upstream_gene_variant MELA-AU 3 148804530 148804530 single base substitution G A upstream_gene_variant MELA-AU 3 148804591 148804591 single base substitution G A upstream_gene_variant MELA-AU 3 148804661 148804661 single base substitution T A upstream_gene_variant MELA-AU 3 148805199 148805199 single base substitution C T upstream_gene_variant MELA-AU 3 148806000 148806000 single base substitution C A upstream_gene_variant MELA-AU 3 148806246 148806246 single base substitution G A upstream_gene_variant MELA-AU 3 148806523 148806523 single base substitution G A upstream_gene_variant MELA-AU 3 148806525 148806525 single base substitution A G upstream_gene_variant MELA-AU 3 148806527 148806527 single base substitution A G upstream_gene_variant MELA-AU 3 148806764 148806764 single base substitution G A upstream_gene_variant MELA-AU 3 148807547 148807548 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 148808095 148808095 single base substitution C T upstream_gene_variant MELA-AU 3 148808181 148808181 single base substitution C T upstream_gene_variant MELA-AU 3 148808731 148808731 single base substitution G A upstream_gene_variant ORCA-IN 3 148746024 148746024 single base substitution G C downstream_gene_variant ORCA-IN 3 148754080 148754080 single base substitution T C downstream_gene_variant ORCA-IN 3 148754080 148754080 single base substitution T C intron_variant ORCA-IN 3 148758154 148758154 single base substitution A G intron_variant ORCA-IN 3 148758154 148758154 single base substitution A G upstream_gene_variant ORCA-IN 3 148804037 148804037 single base substitution G C intron_variant ORCA-IN 3 148808238 148808238 single base substitution C T upstream_gene_variant OV-AU 3 148743510 148743510 single base substitution G C downstream_gene_variant OV-AU 3 148749381 148749381 single base substitution C G 3_prime_UTR_variant OV-AU 3 148749381 148749381 single base substitution C G downstream_gene_variant OV-AU 3 148749381 148749381 single base substitution C G intron_variant OV-AU 3 148758306 148758306 single base substitution C T intron_variant OV-AU 3 148758306 148758306 single base substitution C T upstream_gene_variant OV-AU 3 148760652 148760652 single base substitution C G intron_variant OV-AU 3 148760652 148760652 single base substitution C G upstream_gene_variant OV-AU 3 148762737 148762737 single base substitution C G intron_variant OV-AU 3 148762737 148762737 single base substitution C G upstream_gene_variant OV-AU 3 148762873 148762873 single base substitution C G intron_variant OV-AU 3 148762873 148762873 single base substitution C G upstream_gene_variant OV-AU 3 148763142 148763142 single base substitution A C downstream_gene_variant OV-AU 3 148763142 148763142 single base substitution A C intron_variant OV-AU 3 148763142 148763142 single base substitution A C upstream_gene_variant OV-AU 3 148764861 148764861 single base substitution G A downstream_gene_variant OV-AU 3 148764861 148764861 single base substitution G A intron_variant OV-AU 3 148768937 148768937 single base substitution G A intron_variant OV-AU 3 148768937 148768937 single base substitution G A upstream_gene_variant OV-AU 3 148779468 148779468 single base substitution C A intron_variant OV-AU 3 148779468 148779468 single base substitution C A upstream_gene_variant OV-AU 3 148780906 148780906 single base substitution G C intron_variant OV-AU 3 148780906 148780906 single base substitution G C upstream_gene_variant OV-AU 3 148787535 148787535 single base substitution T C intron_variant OV-AU 3 148788793 148788793 single base substitution C T intron_variant OV-AU 3 148791745 148791745 single base substitution G A intron_variant OV-AU 3 148797028 148797028 single base substitution T A downstream_gene_variant OV-AU 3 148797028 148797028 single base substitution T A intron_variant OV-AU 3 148798849 148798849 single base substitution T C downstream_gene_variant OV-AU 3 148798849 148798849 single base substitution T C intron_variant OV-AU 3 148799193 148799193 single base substitution T G downstream_gene_variant OV-AU 3 148799193 148799193 single base substitution T G intron_variant OV-AU 3 148800818 148800818 single base substitution C T downstream_gene_variant OV-AU 3 148800818 148800818 single base substitution C T intron_variant OV-AU 3 148803606 148803606 single base substitution G C intron_variant OV-AU 3 148804260 148804260 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant OV-AU 3 148804260 148804260 single base substitution T A exon_variant PACA-AU 3 148745534 148745534 single base substitution A G downstream_gene_variant PACA-AU 3 148746671 148746671 single base substitution C T downstream_gene_variant PACA-AU 3 148750759 148750759 single base substitution A C downstream_gene_variant PACA-AU 3 148750759 148750759 single base substitution A C intron_variant PACA-AU 3 148754537 148754537 deletion of <=200bp A - downstream_gene_variant PACA-AU 3 148754537 148754537 deletion of <=200bp A - intron_variant PACA-AU 3 148764011 148764011 single base substitution C G downstream_gene_variant PACA-AU 3 148764011 148764011 single base substitution C G missense_variant R107T 320G>C PACA-AU 3 148764011 148764011 single base substitution C G missense_variant R642T 1925G>C PACA-AU 3 148764011 148764011 single base substitution C G missense_variant R643T 1928G>C PACA-AU 3 148764011 148764011 single base substitution C G upstream_gene_variant PACA-AU 3 148764112 148764112 single base substitution G A downstream_gene_variant PACA-AU 3 148764112 148764112 single base substitution G A intron_variant PACA-AU 3 148764112 148764112 single base substitution G A upstream_gene_variant PACA-AU 3 148764503 148764503 single base substitution A G downstream_gene_variant PACA-AU 3 148764503 148764503 single base substitution A G intron_variant PACA-AU 3 148764503 148764503 single base substitution A G upstream_gene_variant PACA-AU 3 148775332 148775332 single base substitution C T intron_variant PACA-AU 3 148778450 148778450 single base substitution T A exon_variant PACA-AU 3 148778450 148778450 single base substitution T A missense_variant E422V 1265A>T PACA-AU 3 148781227 148781227 single base substitution C T missense_variant R384H 1151G>A PACA-AU 3 148781227 148781227 single base substitution C T upstream_gene_variant PACA-AU 3 148787628 148787628 single base substitution G C intron_variant PACA-AU 3 148808478 148808478 single base substitution G C upstream_gene_variant PACA-AU 3 148809226 148809226 single base substitution T A upstream_gene_variant PACA-CA 3 148747105 148747105 single base substitution G C downstream_gene_variant PACA-CA 3 148749378 148749378 single base substitution A G 3_prime_UTR_variant PACA-CA 3 148749378 148749378 single base substitution A G downstream_gene_variant PACA-CA 3 148749378 148749378 single base substitution A G intron_variant PACA-CA 3 148750220 148750220 single base substitution A T downstream_gene_variant PACA-CA 3 148750220 148750220 single base substitution A T intron_variant PACA-CA 3 148756455 148756455 single base substitution G A downstream_gene_variant PACA-CA 3 148756455 148756455 single base substitution G A intron_variant PACA-CA 3 148757473 148757473 single base substitution G A downstream_gene_variant PACA-CA 3 148757473 148757473 single base substitution G A exon_variant PACA-CA 3 148757473 148757473 single base substitution G A missense_variant A305V 914C>T PACA-CA 3 148757473 148757473 single base substitution G A missense_variant A836V 2507C>T PACA-CA 3 148757473 148757473 single base substitution G A missense_variant A837V 2510C>T PACA-CA 3 148764357 148764357 single base substitution A T downstream_gene_variant PACA-CA 3 148764357 148764357 single base substitution A T intron_variant PACA-CA 3 148764357 148764357 single base substitution A T upstream_gene_variant PACA-CA 3 148764821 148764821 single base substitution A G downstream_gene_variant PACA-CA 3 148764821 148764821 single base substitution A G intron_variant PACA-CA 3 148764821 148764821 single base substitution A G upstream_gene_variant PACA-CA 3 148766312 148766312 single base substitution G A downstream_gene_variant PACA-CA 3 148766312 148766312 single base substitution G A intron_variant PACA-CA 3 148766719 148766719 single base substitution G A downstream_gene_variant PACA-CA 3 148766719 148766719 single base substitution G A stop_gained R27* 79C>T PACA-CA 3 148766719 148766719 single base substitution G A stop_gained R562* 1684C>T PACA-CA 3 148766719 148766719 single base substitution G A stop_gained R563* 1687C>T PACA-CA 3 148769895 148769895 single base substitution C T exon_variant PACA-CA 3 148769895 148769895 single base substitution C T intron_variant PACA-CA 3 148769895 148769895 single base substitution C T upstream_gene_variant PACA-CA 3 148771469 148771469 single base substitution G A intron_variant PACA-CA 3 148771469 148771469 single base substitution G A upstream_gene_variant PACA-CA 3 148773341 148773341 single base substitution A G intron_variant PACA-CA 3 148775208 148775208 single base substitution G A intron_variant PACA-CA 3 148778582 148778582 single base substitution C T exon_variant PACA-CA 3 148778582 148778582 single base substitution C T synonymous_variant L408L 1224G>A PACA-CA 3 148780114 148780114 single base substitution G C intron_variant PACA-CA 3 148780114 148780114 single base substitution G C upstream_gene_variant PACA-CA 3 148781492 148781492 single base substitution G A intron_variant PACA-CA 3 148781492 148781492 single base substitution G A upstream_gene_variant PACA-CA 3 148783326 148783326 insertion of <=200bp - A intron_variant PACA-CA 3 148783326 148783326 insertion of <=200bp - A upstream_gene_variant PACA-CA 3 148787080 148787080 single base substitution G A intron_variant PACA-CA 3 148787088 148787088 single base substitution G A intron_variant PACA-CA 3 148787860 148787860 single base substitution C A intron_variant PACA-CA 3 148789095 148789095 single base substitution C G missense_variant E280Q 838G>C PACA-CA 3 148791733 148791733 single base substitution G T intron_variant PACA-CA 3 148793778 148793778 single base substitution C G missense_variant K95N 285G>C PACA-CA 3 148795920 148795920 deletion of <=200bp A - intron_variant PACA-CA 3 148801693 148801693 single base substitution G A intron_variant PACA-CA 3 148802563 148802563 single base substitution G A exon_variant PACA-CA 3 148802563 148802563 single base substitution G A missense_variant P45L 134C>T PACA-CA 3 148803052 148803052 deletion of <=200bp T - intron_variant PACA-CA 3 148804836 148804836 single base substitution C T upstream_gene_variant PACA-CA 3 148805061 148805061 single base substitution G A upstream_gene_variant PAEN-IT 3 148756029 148756029 single base substitution G A downstream_gene_variant PAEN-IT 3 148756029 148756029 single base substitution G A intron_variant PAEN-IT 3 148783087 148783087 single base substitution C A intron_variant PAEN-IT 3 148783087 148783087 single base substitution C A upstream_gene_variant PBCA-DE 3 148744084 148744084 single base substitution C T downstream_gene_variant PBCA-DE 3 148750170 148750170 insertion of <=200bp - A downstream_gene_variant PBCA-DE 3 148750170 148750170 insertion of <=200bp - A intron_variant PBCA-DE 3 148753063 148753063 insertion of <=200bp - T downstream_gene_variant PBCA-DE 3 148753063 148753063 insertion of <=200bp - T intron_variant PBCA-DE 3 148760435 148760435 single base substitution T C intron_variant PBCA-DE 3 148760435 148760435 single base substitution T C upstream_gene_variant PBCA-DE 3 148764861 148764861 single base substitution G A downstream_gene_variant PBCA-DE 3 148764861 148764861 single base substitution G A intron_variant PBCA-DE 3 148770663 148770663 single base substitution T A intron_variant PBCA-DE 3 148770663 148770663 single base substitution T A upstream_gene_variant PBCA-DE 3 148779548 148779548 insertion of <=200bp - CG intron_variant PBCA-DE 3 148779548 148779548 insertion of <=200bp - CG upstream_gene_variant PBCA-DE 3 148780597 148780597 deletion of <=200bp A - intron_variant PBCA-DE 3 148780597 148780597 deletion of <=200bp A - upstream_gene_variant PBCA-DE 3 148792454 148792454 single base substitution G A intron_variant PBCA-DE 3 148792924 148792924 single base substitution C T intron_variant PBCA-DE 3 148795035 148795038 deletion of <=200bp AAAT - intron_variant PBCA-DE 3 148806524 148806525 deletion of <=200bp CA - upstream_gene_variant PBCA-DE 3 148807325 148807325 single base substitution C G upstream_gene_variant PRAD-CA 3 148761137 148761137 single base substitution A G intron_variant PRAD-CA 3 148761137 148761137 single base substitution A G upstream_gene_variant PRAD-CA 3 148779210 148779210 single base substitution T A intron_variant PRAD-CA 3 148779210 148779210 single base substitution T A upstream_gene_variant PRAD-CA 3 148800906 148800906 single base substitution C T downstream_gene_variant PRAD-CA 3 148800906 148800906 single base substitution C T intron_variant PRAD-CA 3 148801715 148801715 single base substitution G A intron_variant PRAD-UK 3 148744191 148744191 single base substitution G T downstream_gene_variant PRAD-UK 3 148755978 148755978 single base substitution A G downstream_gene_variant PRAD-UK 3 148755978 148755978 single base substitution A G intron_variant PRAD-UK 3 148767989 148767989 single base substitution A C downstream_gene_variant PRAD-UK 3 148767989 148767989 single base substitution A C intron_variant PRAD-UK 3 148779547 148779547 single base substitution C T intron_variant PRAD-UK 3 148779547 148779547 single base substitution C T upstream_gene_variant PRAD-UK 3 148796659 148796659 deletion of <=200bp T - downstream_gene_variant PRAD-UK 3 148796659 148796659 deletion of <=200bp T - intron_variant PRAD-UK 3 148803378 148803378 single base substitution T C intron_variant PRAD-UK 3 148805498 148805498 single base substitution G A upstream_gene_variant PRAD-US 3 148760005 148760005 single base substitution A T synonymous_variant I179I 537T>A PRAD-US 3 148760005 148760005 single base substitution A T synonymous_variant I714I 2142T>A PRAD-US 3 148760005 148760005 single base substitution A T synonymous_variant I715I 2145T>A PRAD-US 3 148760005 148760005 single base substitution A T upstream_gene_variant READ-US 3 148756968 148756968 single base substitution C A downstream_gene_variant READ-US 3 148756968 148756968 single base substitution C A exon_variant READ-US 3 148756968 148756968 single base substitution C A missense_variant K356N 1068G>T READ-US 3 148756968 148756968 single base substitution C A missense_variant K887N 2661G>T READ-US 3 148756968 148756968 single base substitution C A missense_variant K888N 2664G>T READ-US 3 148778616 148778616 single base substitution C T missense_variant S397N 1190G>A READ-US 3 148778616 148778616 single base substitution C T upstream_gene_variant READ-US 3 148792068 148792068 single base substitution C A stop_gained E155* 463G>T READ-US 3 148802531 148802531 single base substitution C A exon_variant READ-US 3 148802531 148802531 single base substitution C A missense_variant D56Y 166G>T RECA-EU 3 148744998 148744998 single base substitution C G downstream_gene_variant RECA-EU 3 148745099 148745099 single base substitution C A downstream_gene_variant RECA-EU 3 148745532 148745532 single base substitution T C downstream_gene_variant RECA-EU 3 148750761 148750761 single base substitution A C downstream_gene_variant RECA-EU 3 148750761 148750761 single base substitution A C intron_variant RECA-EU 3 148750763 148750763 single base substitution A C downstream_gene_variant RECA-EU 3 148750763 148750763 single base substitution A C intron_variant RECA-EU 3 148750765 148750765 single base substitution C A downstream_gene_variant RECA-EU 3 148750765 148750765 single base substitution C A intron_variant RECA-EU 3 148755612 148755612 single base substitution C T downstream_gene_variant RECA-EU 3 148755612 148755612 single base substitution C T intron_variant RECA-EU 3 148766091 148766091 single base substitution A T downstream_gene_variant RECA-EU 3 148766091 148766091 single base substitution A T intron_variant RECA-EU 3 148766742 148766742 single base substitution A G downstream_gene_variant RECA-EU 3 148766742 148766742 single base substitution A G missense_variant I19T 56T>C RECA-EU 3 148766742 148766742 single base substitution A G missense_variant I554T 1661T>C RECA-EU 3 148766742 148766742 single base substitution A G missense_variant I555T 1664T>C RECA-EU 3 148800708 148800708 single base substitution G C downstream_gene_variant RECA-EU 3 148800708 148800708 single base substitution G C intron_variant RECA-EU 3 148802810 148802810 single base substitution T G intron_variant SKCA-BR 3 148743602 148743602 single base substitution T G downstream_gene_variant SKCA-BR 3 148746492 148746498 deletion of <=200bp ATTTTTT - downstream_gene_variant SKCA-BR 3 148746739 148746739 single base substitution C T downstream_gene_variant SKCA-BR 3 148747691 148747691 single base substitution T C downstream_gene_variant SKCA-BR 3 148750761 148750761 single base substitution A C downstream_gene_variant SKCA-BR 3 148750761 148750761 single base substitution A C intron_variant SKCA-BR 3 148750765 148750765 single base substitution C A downstream_gene_variant SKCA-BR 3 148750765 148750765 single base substitution C A intron_variant SKCA-BR 3 148752745 148752745 single base substitution C T downstream_gene_variant SKCA-BR 3 148752745 148752745 single base substitution C T missense_variant C414Y 1241G>A SKCA-BR 3 148752745 148752745 single base substitution C T missense_variant C945Y 2834G>A SKCA-BR 3 148752745 148752745 single base substitution C T missense_variant C946Y 2837G>A SKCA-BR 3 148755254 148755254 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 3 148755254 148755254 insertion of <=200bp - CA intron_variant SKCA-BR 3 148755271 148755271 single base substitution G A downstream_gene_variant SKCA-BR 3 148755271 148755271 single base substitution G A intron_variant SKCA-BR 3 148761311 148761311 single base substitution A G intron_variant SKCA-BR 3 148761311 148761311 single base substitution A G upstream_gene_variant SKCA-BR 3 148764987 148764987 single base substitution G A downstream_gene_variant SKCA-BR 3 148764987 148764987 single base substitution G A intron_variant SKCA-BR 3 148772128 148772128 single base substitution C T intron_variant SKCA-BR 3 148772128 148772128 single base substitution C T upstream_gene_variant SKCA-BR 3 148772620 148772620 single base substitution A C intron_variant SKCA-BR 3 148772620 148772620 single base substitution A C upstream_gene_variant SKCA-BR 3 148779602 148779602 single base substitution G A intron_variant SKCA-BR 3 148779602 148779602 single base substitution G A upstream_gene_variant SKCA-BR 3 148781345 148781345 single base substitution A T intron_variant SKCA-BR 3 148781345 148781345 single base substitution A T upstream_gene_variant SKCA-BR 3 148783485 148783485 single base substitution C T intron_variant SKCA-BR 3 148783485 148783485 single base substitution C T upstream_gene_variant SKCA-BR 3 148786945 148786945 insertion of <=200bp - TA intron_variant SKCA-BR 3 148788846 148788846 single base substitution G A intron_variant SKCA-BR 3 148789075 148789075 single base substitution A C missense_variant N286K 858T>G SKCA-BR 3 148789464 148789464 single base substitution G A intron_variant SKCA-BR 3 148792278 148792278 single base substitution G A intron_variant SKCA-BR 3 148792989 148792989 single base substitution G A intron_variant SKCA-BR 3 148795034 148795042 deletion of <=200bp AAAATAAAT - intron_variant SKCA-BR 3 148800170 148800170 single base substitution T C downstream_gene_variant SKCA-BR 3 148800170 148800170 single base substitution T C intron_variant SKCA-BR 3 148803127 148803127 single base substitution T A intron_variant SKCA-BR 3 148804472 148804472 single base substitution C T upstream_gene_variant SKCA-BR 3 148804473 148804473 single base substitution C T upstream_gene_variant SKCA-BR 3 148805371 148805371 single base substitution G T upstream_gene_variant SKCA-BR 3 148806921 148806921 single base substitution G A upstream_gene_variant SKCA-BR 3 148807832 148807832 single base substitution G A upstream_gene_variant SKCM-US 3 148756980 148756980 single base substitution G A downstream_gene_variant SKCM-US 3 148756980 148756980 single base substitution G A exon_variant SKCM-US 3 148756980 148756980 single base substitution G A synonymous_variant S352S 1056C>T SKCM-US 3 148756980 148756980 single base substitution G A synonymous_variant S883S 2649C>T SKCM-US 3 148756980 148756980 single base substitution G A synonymous_variant S884S 2652C>T SKCM-US 3 148756981 148756981 single base substitution G A downstream_gene_variant SKCM-US 3 148756981 148756981 single base substitution G A exon_variant SKCM-US 3 148756981 148756981 single base substitution G A missense_variant S352F 1055C>T SKCM-US 3 148756981 148756981 single base substitution G A missense_variant S883F 2648C>T SKCM-US 3 148756981 148756981 single base substitution G A missense_variant S884F 2651C>T SKCM-US 3 148759427 148759427 single base substitution C T exon_variant SKCM-US 3 148759427 148759427 single base substitution C T synonymous_variant K210K 630G>A SKCM-US 3 148759427 148759427 single base substitution C T synonymous_variant K741K 2223G>A SKCM-US 3 148759427 148759427 single base substitution C T synonymous_variant K742K 2226G>A SKCM-US 3 148759427 148759427 single base substitution C T upstream_gene_variant SKCM-US 3 148759958 148759958 single base substitution G A missense_variant P195L 584C>T SKCM-US 3 148759958 148759958 single base substitution G A missense_variant P730L 2189C>T SKCM-US 3 148759958 148759958 single base substitution G A missense_variant P731L 2192C>T SKCM-US 3 148759958 148759958 single base substitution G A upstream_gene_variant SKCM-US 3 148778438 148778438 single base substitution C A exon_variant SKCM-US 3 148778438 148778438 single base substitution C A missense_variant R426M 1277G>T SKCM-US 3 148792049 148792049 single base substitution G A missense_variant S161L 482C>T SKCM-US 3 148792061 148792061 single base substitution C T missense_variant R157K 470G>A SKCM-US 3 148792076 148792076 single base substitution C T missense_variant G152E 455G>A SKCM-US 3 148792128 148792128 single base substitution G A missense_variant P135S 403C>T SKCM-US 3 148793736 148793736 single base substitution G A synonymous_variant G109G 327C>T STAD-US 3 148744276 148744276 single base substitution G A downstream_gene_variant STAD-US 3 148750057 148750057 single base substitution C T downstream_gene_variant STAD-US 3 148750057 148750057 single base substitution C T missense_variant E993K 2977G>A STAD-US 3 148750057 148750057 single base substitution C T missense_variant E994K 2980G>A STAD-US 3 148763957 148763957 single base substitution C T downstream_gene_variant STAD-US 3 148763957 148763957 single base substitution C T missense_variant R125H 374G>A STAD-US 3 148763957 148763957 single base substitution C T missense_variant R660H 1979G>A STAD-US 3 148763957 148763957 single base substitution C T missense_variant R661H 1982G>A STAD-US 3 148763957 148763957 single base substitution C T upstream_gene_variant STAD-US 3 148781227 148781227 single base substitution C T missense_variant R384H 1151G>A STAD-US 3 148781227 148781227 single base substitution C T upstream_gene_variant STAD-US 3 148789134 148789134 single base substitution G A stop_gained R267* 799C>T STAD-US 3 148789221 148789221 single base substitution T G missense_variant T238P 712A>C STAD-US 3 148802525 148802525 single base substitution C T exon_variant STAD-US 3 148802525 148802525 single base substitution C T missense_variant V58I 172G>A THCA-SA 3 148748323 148748323 single base substitution G A 3_prime_UTR_variant THCA-SA 3 148748323 148748323 single base substitution G A downstream_gene_variant THCA-SA 3 148749621 148749621 single base substitution T C 3_prime_UTR_variant THCA-SA 3 148749621 148749621 single base substitution T C downstream_gene_variant THCA-SA 3 148749621 148749621 single base substitution T C intron_variant THCA-SA 3 148766666 148766666 single base substitution T C downstream_gene_variant THCA-SA 3 148766666 148766666 single base substitution T C synonymous_variant R44R 132A>G THCA-SA 3 148766666 148766666 single base substitution T C synonymous_variant R579R 1737A>G THCA-SA 3 148766666 148766666 single base substitution T C synonymous_variant R580R 1740A>G UCEC-US 3 148744654 148744654 single base substitution G A downstream_gene_variant UCEC-US 3 148752778 148752778 single base substitution T G exon_variant UCEC-US 3 148752778 148752778 single base substitution T G missense_variant N403T 1208A>C UCEC-US 3 148752778 148752778 single base substitution T G missense_variant N934T 2801A>C UCEC-US 3 148752778 148752778 single base substitution T G missense_variant N935T 2804A>C UCEC-US 3 148756855 148756855 single base substitution C T downstream_gene_variant UCEC-US 3 148756855 148756855 single base substitution C T exon_variant UCEC-US 3 148756855 148756855 single base substitution C T missense_variant R394Q 1181G>A UCEC-US 3 148756855 148756855 single base substitution C T missense_variant R925Q 2774G>A UCEC-US 3 148756855 148756855 single base substitution C T missense_variant R926Q 2777G>A UCEC-US 3 148757466 148757466 single base substitution C T downstream_gene_variant UCEC-US 3 148757466 148757466 single base substitution C T exon_variant UCEC-US 3 148757466 148757466 single base substitution C T missense_variant M307I 921G>A UCEC-US 3 148757466 148757466 single base substitution C T missense_variant M838I 2514G>A UCEC-US 3 148757466 148757466 single base substitution C T missense_variant M839I 2517G>A UCEC-US 3 148757473 148757473 single base substitution G A downstream_gene_variant UCEC-US 3 148757473 148757473 single base substitution G A exon_variant UCEC-US 3 148757473 148757473 single base substitution G A missense_variant A305V 914C>T UCEC-US 3 148757473 148757473 single base substitution G A missense_variant A836V 2507C>T UCEC-US 3 148757473 148757473 single base substitution G A missense_variant A837V 2510C>T UCEC-US 3 148757825 148757825 single base substitution C T downstream_gene_variant UCEC-US 3 148757825 148757825 single base substitution C T exon_variant UCEC-US 3 148757825 148757825 single base substitution C T missense_variant S300N 899G>A UCEC-US 3 148757825 148757825 single base substitution C T missense_variant S831N 2492G>A UCEC-US 3 148757825 148757825 single base substitution C T missense_variant S832N 2495G>A UCEC-US 3 148757852 148757852 single base substitution T G downstream_gene_variant UCEC-US 3 148757852 148757852 single base substitution T G exon_variant UCEC-US 3 148757852 148757852 single base substitution T G missense_variant K291T 872A>C UCEC-US 3 148757852 148757852 single base substitution T G missense_variant K822T 2465A>C UCEC-US 3 148757852 148757852 single base substitution T G missense_variant K823T 2468A>C UCEC-US 3 148757913 148757913 single base substitution C A downstream_gene_variant UCEC-US 3 148757913 148757913 single base substitution C A exon_variant UCEC-US 3 148757913 148757913 single base substitution C A missense_variant D271Y 811G>T UCEC-US 3 148757913 148757913 single base substitution C A missense_variant D802Y 2404G>T UCEC-US 3 148757913 148757913 single base substitution C A missense_variant D803Y 2407G>T UCEC-US 3 148759286 148759286 single base substitution C T exon_variant UCEC-US 3 148759286 148759286 single base substitution C T synonymous_variant Q257Q 771G>A UCEC-US 3 148759286 148759286 single base substitution C T synonymous_variant Q788Q 2364G>A UCEC-US 3 148759286 148759286 single base substitution C T synonymous_variant Q789Q 2367G>A UCEC-US 3 148759286 148759286 single base substitution C T upstream_gene_variant UCEC-US 3 148763993 148763993 single base substitution T G downstream_gene_variant UCEC-US 3 148763993 148763993 single base substitution T G missense_variant K113T 338A>C UCEC-US 3 148763993 148763993 single base substitution T G missense_variant K648T 1943A>C UCEC-US 3 148763993 148763993 single base substitution T G missense_variant K649T 1946A>C UCEC-US 3 148763993 148763993 single base substitution T G upstream_gene_variant UCEC-US 3 148766718 148766718 single base substitution C T downstream_gene_variant UCEC-US 3 148766718 148766718 single base substitution C T missense_variant R27Q 80G>A UCEC-US 3 148766718 148766718 single base substitution C T missense_variant R562Q 1685G>A UCEC-US 3 148766718 148766718 single base substitution C T missense_variant R563Q 1688G>A UCEC-US 3 148778437 148778437 single base substitution C A exon_variant UCEC-US 3 148778437 148778437 single base substitution C A missense_variant R426S 1278G>T UCEC-US 3 148778579 148778579 single base substitution C T exon_variant UCEC-US 3 148778579 148778579 single base substitution C T synonymous_variant P409P 1227G>A UCEC-US 3 148781309 148781309 single base substitution C T missense_variant A357T 1069G>A UCEC-US 3 148781309 148781309 single base substitution C T upstream_gene_variant UCEC-US 3 148781310 148781310 single base substitution G A splice_region_variant UCEC-US 3 148781310 148781310 single base substitution G A upstream_gene_variant UCEC-US 3 148782627 148782627 single base substitution C A missense_variant M339I 1017G>T UCEC-US 3 148782627 148782627 single base substitution C A upstream_gene_variant UCEC-US 3 148786042 148786042 single base substitution C A missense_variant K325N 975G>T UCEC-US 3 148786078 148786078 single base substitution A G synonymous_variant H313H 939T>C UCEC-US 3 148789143 148789143 single base substitution A G missense_variant W264R 790T>C UCEC-US 3 148789388 148789388 single base substitution A G synonymous_variant H228H 684T>C UCEC-US 3 148793777 148793777 single base substitution T G missense_variant N96H 286A>C UCEC-US 3 148793778 148793778 single base substitution C A missense_variant K95N 285G>T UCEC-US 3 148802507 148802507 single base substitution T G exon_variant UCEC-US 3 148802507 148802507 single base substitution T G synonymous_variant R64R 190A>C UCEC-US 3 148802585 148802585 single base substitution C A exon_variant UCEC-US 3 148802585 148802585 single base substitution C A stop_gained E38* 112G>T UCEC-US 3 148802669 148802669 single base substitution C T exon_variant UCEC-US 3 148802669 148802669 single base substitution C T missense_variant V10I 28G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand I2L-P24Ta-Tumor-Organoid COSM5355414 c.1554G>A p.P518P Substitution - coding silent 3:149050295-149050295 - 587380 COSM1209786 c.1037C>T p.T346I Substitution - Missense 3:149064820-149064820 - 388 COSM3722070 c.2763G>T p.L921L Substitution - coding silent 3:149039082-149039082 - TCGA-AG-A002-01 COSM261301 c.637G>A p.E213K Substitution - Missense 3:149071648-149071648 - P1 COSM1315791 c.659A>G p.D220G Substitution - Missense 3:149071626-149071626 - 8066081 COSM218753 c.1265A>T p.E422V Substitution - Missense 3:149060663-149060663 - TCGA-B0-4844-01 COSM3365032 c.1726T>A p.L576I Substitution - Missense 3:149048893-149048893 - TCGA-AP-A0LP-01 COSM1039727 c.790T>C p.W264R Substitution - Missense 3:149071356-149071356 - TCGA-AC-A23H-01 COSM3846479 c.1013C>G p.S338C Substitution - Missense 3:149064844-149064844 - CSCC-54-T COSM4451832 c.1429A>G p.T477A Substitution - Missense 3:149055347-149055347 - CN-AML-CR-22-Dx COSM5424972 c.229-8T>C p.? Unknown 3:149076055-149076055 - SNU-C4 COSM4653631 c.1013C>A p.S338Y Substitution - Missense 3:149064844-149064844 - Au1 COSM5596841 c.1961C>T p.P654L Substitution - Missense 3:149046191-149046191 - CSCC-45-T COSM4483058 c.266C>T p.P89L Substitution - Missense 3:149076010-149076010 - 2492721 COSM5723701 c.1768C>T p.Q590* Substitution - Nonsense 3:149048152-149048152 - PCSI_0037_Pa_X COSM3380434 c.285G>C p.K95N Substitution - Missense 3:149075991-149075991 - TCGA-F5-6814-01 COSM3427194 c.2664G>T p.K888N Substitution - Missense 3:149039181-149039181 - TCGA-BK-A0C9-01 COSM1039726 c.939T>C p.H313H Substitution - coding silent 3:149068291-149068291 - PCSI_0090_Pa_X COSM3380432 c.1687C>T p.R563* Substitution - Nonsense 3:149048932-149048932 - TCGA-AX-A05Z-01 COSM1039719 c.1946A>C p.K649T Substitution - Missense 3:149046206-149046206 - TCGA-AA-A010-01 COSM281723 c.2297C>A p.S766Y Substitution - Missense 3:149041569-149041569 - MCF7 COSM1670632 c.859G>T p.V287F Substitution - Missense 3:149071287-149071287 - TCGA-DK-A2I4-01 COSM3774618 c.1443C>G p.I481M Substitution - Missense 3:149055333-149055333 - HCC26 COSM3660252 c.1454C>T p.S485F Substitution - Missense 3:149055322-149055322 - I2L-P14b-Tumor-Organoid COSM445775 c.2979C>T p.D993D Substitution - coding silent 3:149032271-149032271 - TCGA-EE-A3J7-06 COSM3915104 c.470G>A p.R157K Substitution - Missense 3:149074274-149074274 - B66 COSM1752959 c.221C>T p.T74M Substitution - Missense 3:149084689-149084689 - 255 COSM3732053 c.2521G>A p.A841T Substitution - Missense 3:149039675-149039675 - PA285 COSM1163327 c.127A>T p.I43F Substitution - Missense 3:149084783-149084783 - S00831 COSM5660589 c.1719A>G p.V573V Substitution - coding silent 3:149048900-149048900 - TCGA-B5-A11E-01 COSM1039712 c.2804A>C p.N935T Substitution - Missense 3:149034991-149034991 - TCGA-AP-A056-01 COSM1039717 c.2407G>T p.D803Y Substitution - Missense 3:149040126-149040126 - LUAD-S01356 COSM398220 c.1893G>T p.R631S Substitution - Missense 3:149046259-149046259 - TCGA-66-2786-01 COSM728805 c.2173G>T p.A725S Substitution - Missense 3:149042190-149042190 - TCGA-BR-8680-01 COSM4114333 c.712A>C p.T238P Substitution - Missense 3:149071434-149071434 - Gp5D COSM3002582 c.2075A>T p.Y692F Substitution - Missense 3:149042288-149042288 - TCGA-AM-5821-01 COSM3759821 c.2328A>G p.A776A Substitution - coding silent 3:149041538-149041538 - 134398 COSM325498 c.1588A>G p.T530A Substitution - Missense 3:149050261-149050261 - TCGA-BR-8078-01 COSM4114332 c.799C>T p.R267* Substitution - Nonsense 3:149071347-149071347 - tumor_4188900 COSM1642130 c.21-4delA p.? Unknown 3:149084893-149084893 - ESCC_51 COSM5631056 c.766A>G p.N256D Substitution - Missense 3:149071380-149071380 - PCSI_0138_Pa_X COSM3380433 c.1224G>A p.L408L Substitution - coding silent 3:149060795-149060795 - TCGA-AP-A056-01 COSM281722 c.2777G>A p.R926Q Substitution - Missense 3:149039068-149039068 - TCGA-AP-A051-01 COSM1039722 c.1069G>A p.A357T Substitution - Missense 3:149063522-149063522 - TCGA-AD-6889-01 COSM1642129 c.1376-3delT p.? Unknown 3:149055403-149055403 - TCGA-AN-A03Y-01 COSM445775 c.2979C>T p.D993D Substitution - coding silent 3:149032271-149032271 - TCGA-AP-A056-01 COSM1039731 c.190A>C p.R64R Substitution - coding silent 3:149084720-149084720 - HCC2998 COSM3002589 c.1559T>C p.L520S Substitution - Missense 3:149050290-149050290 - YUKLAB COSM1693575 c.2719A>G p.I907V Substitution - Missense 3:149039126-149039126 - 18 COSM5744792 c.1214C>T p.T405I Substitution - Missense 3:149060805-149060805 - TCGA-21-1078-01 COSM728803 c.1300G>T p.V434F Substitution - Missense 3:149059793-149059793 - TCGA-DU-8158-01 COSM3974212 c.435T>G p.P145P Substitution - coding silent 3:149074309-149074309 - 113801 COSM94473 c.71A>G p.N24S Substitution - Missense 3:149084839-149084839 - 2492723 COSM5723701 c.1768C>T p.Q590* Substitution - Nonsense 3:149048152-149048152 - TCGA-AZ-6598-01 COSM1419821 c.864T>C p.H288H Substitution - coding silent 3:149071282-149071282 - TCGA-BP-4158-01 COSM728799 c.749G>A p.W250* Substitution - Nonsense 3:149071397-149071397 - sysucc-311T COSM5465741 c.829A>C p.N277H Substitution - Missense 3:149071317-149071317 - TCGA-18-4083-01 COSM728809 c.2873C>T p.T958I Substitution - Missense 3:149034922-149034922 - HCT116 COSM4632329 c.560G>A p.G187D Substitution - Missense 3:149073292-149073292 - TCGA-BS-A0UF-01 COSM1039730 c.285G>T p.K95N Substitution - Missense 3:149075991-149075991 - PT37 COSM5918109 c.1474-6C>T p.? Unknown 3:149050381-149050381 - SC_9030 COSM5565212 c.761G>A p.R254Q Substitution - Missense 3:149071385-149071385 - 8057513 COSM218753 c.1265A>T p.E422V Substitution - Missense 3:149060663-149060663 - I2L-P24Tb-Tumor-Organoid COSM5355414 c.1554G>A p.P518P Substitution - coding silent 3:149050295-149050295 - 2492720 COSM5723701 c.1768C>T p.Q590* Substitution - Nonsense 3:149048152-149048152 - TCGA-29-1696-01 COSM94473 c.71A>G p.N24S Substitution - Missense 3:149084839-149084839 - CSCC-7-T COSM4492848 c.404C>T p.P135L Substitution - Missense 3:149074340-149074340 - 520 COSM5612104 c.2459A>G p.D820G Substitution - Missense 3:149040074-149040074 - TCGA-AZ-4315-01 COSM1419820 c.1203G>T p.E401D Substitution - Missense 3:149060816-149060816 - PT42 COSM5925053 c.2752G>A p.G918S Substitution - Missense 3:149039093-149039093 - HN_62338 COSM128177 c.1626A>C p.G542G Substitution - coding silent 3:149048993-149048993 - TCGA-BR-4184-01 COSM3392116 c.1151G>A p.R384H Substitution - Missense 3:149063440-149063440 - NCI-ADR-RES COSM1670631 c.2759A>G p.N920S Substitution - Missense 3:149039086-149039086 - CSCC-6-T COSM4485796 c.2979C>G p.D993E Substitution - Missense 3:149032271-149032271 - CSCC-38-T COSM4449355 c.21-1G>A p.? Unknown 3:149084890-149084890 - 8057501 COSM218753 c.1265A>T p.E422V Substitution - Missense 3:149060663-149060663 - ESCC_131 COSM5642262 c.1751T>A p.L584* Substitution - Nonsense 3:149048868-149048868 - TCGA-AA-A010-01 COSM281722 c.2777G>A p.R926Q Substitution - Missense 3:149039068-149039068 - TCGA-EJ-5521-01 COSM1130321 c.2145T>A p.I715I Substitution - coding silent 3:149042218-149042218 - TCGA-AX-A0J1-01 COSM1039714 c.2510C>T p.A837V Substitution - Missense 3:149039686-149039686 - TCGA-76-6285-01 COSM3408335 c.1531G>A p.G511S Substitution - Missense 3:149050318-149050318 - 417 COSM4431713 c.2880C>G p.F960L Substitution - Missense 3:149032370-149032370 - TCGA-B5-A0K9-01 COSM1039728 c.684T>C p.H228H Substitution - coding silent 3:149071601-149071601 - CLL129 COSM1291624 c.1004A>G p.N335S Substitution - Missense 3:149064853-149064853 - I2L-P24Ta-Tumor-Biopsy COSM5355414 c.1554G>A p.P518P Substitution - coding silent 3:149050295-149050295 - 61 COSM5736790 c.830A>T p.N277I Substitution - Missense 3:149071316-149071316 - PCSI_0090_Pa_P COSM3380432 c.1687C>T p.R563* Substitution - Nonsense 3:149048932-149048932 - TCGA-BF-A1PZ-01 COSM4399300 c.2226G>A p.K742K Substitution - coding silent 3:149041640-149041640 - T3498 COSM4690686 c.382G>A p.A128T Substitution - Missense 3:149075894-149075894 - BD30T COSM5509063 c.1309G>C p.D437H Substitution - Missense 3:149059784-149059784 - TCGA-B5-A0JY-01 COSM1039732 c.112G>T p.E38* Substitution - Nonsense 3:149084798-149084798 - 8034061 COSM3392115 c.1928G>C p.R643T Substitution - Missense 3:149046224-149046224 - TCGA-FW-A3R5-06 COSM3002610 c.403C>T p.P135S Substitution - Missense 3:149074341-149074341 - HCC70 COSM1617037 c.2445A>G p.E815E Substitution - coding silent 3:149040088-149040088 - TCGA-AA-A00N-01 COSM275472 c.1688G>A p.R563Q Substitution - Missense 3:149048931-149048931 - S02376 COSM5697128 c.1171G>A p.A391T Substitution - Missense 3:149060848-149060848 - HCC70T COSM1617037 c.2445A>G p.E815E Substitution - coding silent 3:149040088-149040088 - PT24_1 COSM5904202 c.782C>T p.P261L Substitution - Missense 3:149071364-149071364 - ME002T COSM222007 c.2515A>T p.M839L Substitution - Missense 3:149039681-149039681 - TCGA-B5-A11N-01 COSM1039724 c.1017G>T p.M339I Substitution - Missense 3:149064840-149064840 - PD4954a COSM5795053 c.2303C>A p.T768K Substitution - Missense 3:149041563-149041563 - PD8995a COSM5782347 c.1221A>G p.E407E Substitution - coding silent 3:149060798-149060798 - CSCC-31-T COSM4472151 c.1763C>T p.P588L Substitution - Missense 3:149048157-149048157 - 262LT COSM4381672 c.1474G>T p.D492Y Substitution - Missense 3:149050375-149050375 - DN11135 COSM5782347 c.1221A>G p.E407E Substitution - coding silent 3:149060798-149060798 - 8057501 COSM3392116 c.1151G>A p.R384H Substitution - Missense 3:149063440-149063440 - TCGA-A3-3320-01 COSM1495440 c.816T>A p.Y272* Substitution - Nonsense 3:149071330-149071330 - TCGA-BS-A0UV-01 COSM1039725 c.975G>T p.K325N Substitution - Missense 3:149068255-149068255 - HCC26T COSM3660252 c.1454C>T p.S485F Substitution - Missense 3:149055322-149055322 - TCGA-BS-A0UF-01 COSM1039716 c.2468A>C p.K823T Substitution - Missense 3:149040065-149040065 - TCGA-21-1081-01 COSM728808 c.2452G>A p.A818T Substitution - Missense 3:149040081-149040081 - TCGA-66-2754-01 COSM728799 c.749G>A p.W250* Substitution - Nonsense 3:149071397-149071397 - TCGA-EE-A2MU-06 COSM384047 c.482C>T p.S161L Substitution - Missense 3:149074262-149074262 - 8066081 COSM3392116 c.1151G>A p.R384H Substitution - Missense 3:149063440-149063440 - TCGA-21-5784-01 COSM728801 c.895-1G>A p.? Unknown 3:149068336-149068336 - C086 COSM3002610 c.403C>T p.P135S Substitution - Missense 3:149074341-149074341 - TCGA-B0-5705-01 COSM479561 c.159A>G p.E53E Substitution - coding silent 3:149084751-149084751 - TCGA-EE-A29P-06 COSM3588560 c.327C>T p.G109G Substitution - coding silent 3:149075949-149075949 - TCGA-D1-A17M-01 COSM1039723 c.1068C>T p.D356D Substitution - coding silent 3:149063523-149063523 - TCGA-EE-A3AB-06 COSM3588555 c.2652C>T p.S884S Substitution - coding silent 3:149039193-149039193 - TCGA-GN-A266-06 COSM3588556 c.2651C>T p.S884F Substitution - Missense 3:149039194-149039194 - TCGA-BI-A0VS-01 COSM460889 c.795A>G p.E265E Substitution - coding silent 3:149071351-149071351 - 8014753 COSM218753 c.1265A>T p.E422V Substitution - Missense 3:149060663-149060663 - TCGA-EE-A3AC-06 COSM3588559 c.455G>A p.G152E Substitution - Missense 3:149074289-149074289 - TCGA-EE-A2M8-06 COSM3588557 c.2192C>T p.P731L Substitution - Missense 3:149042171-149042171 - TCGA-AP-A056-01 COSM1039729 c.286A>C p.N96H Substitution - Missense 3:149075990-149075990 - HCC160T COSM3660253 c.1151G>T p.R384L Substitution - Missense 3:149063440-149063440 - GHE0446 COSM5713792 c.2456G>A p.R819H Substitution - Missense 3:149040077-149040077 - sysucc-1213T COSM5764391 c.1449G>A p.P483P Substitution - coding silent 3:149055327-149055327 - ESCC_86 COSM5636597 c.2776C>G p.R926G Substitution - Missense 3:149039069-149039069 - 587224 COSM1209784 c.79C>T p.R27C Substitution - Missense 3:149084831-149084831 - S02403 COSM5700484 c.2113G>A p.V705I Substitution - Missense 3:149042250-149042250 - TCGA-60-2698-01 COSM728802 c.952C>G p.L318V Substitution - Missense 3:149068278-149068278 - cSCCP4 COSM138396 c.925C>T p.L309F Substitution - Missense 3:149068305-149068305 - HCC2998 COSM3002580 c.2198G>A p.G733E Substitution - Missense 3:149041668-149041668 - CSCC-20-T COSM445775 c.2979C>T p.D993D Substitution - coding silent 3:149032271-149032271 - 587222 COSM1209785 c.1186G>T p.E396* Substitution - Nonsense 3:149060833-149060833 - PCSI_0083_Pa_X COSM1039714 c.2510C>T p.A837V Substitution - Missense 3:149039686-149039686 - LUAD-RT-S01818 COSM384047 c.482C>T p.S161L Substitution - Missense 3:149074262-149074262 - 8014573 COSM3392116 c.1151G>A p.R384H Substitution - Missense 3:149063440-149063440 - SNUH_G26_S1 COSM3759821 c.2328A>G p.A776A Substitution - coding silent 3:149041538-149041538 - TCGA-AZ-4315-01 COSM1419819 c.2225A>C p.K742T Substitution - Missense 3:149041641-149041641 - ccRCC-53 COSM1662155 c.1792T>G p.S598A Substitution - Missense 3:149048128-149048128 - TCGA-EI-6917-01 COSM3427195 c.1190G>A p.S397N Substitution - Missense 3:149060829-149060829 - TCGA-D3-A2J9-06 COSM3588558 c.1277G>T p.R426M Substitution - Missense 3:149060651-149060651 - STC291 COSM5059392 c.1973T>C p.L658S Substitution - Missense 3:149046179-149046179 - CHC892T COSM4960543 c.1365G>A p.M455I Substitution - Missense 3:149059728-149059728 - HN_63021 COSM128178 c.129C>T p.I43I Substitution - coding silent 3:149084781-149084781 - TCGA-AA-A00N-01 COSM275471 c.2656G>A p.A886T Substitution - Missense 3:149039189-149039189 - TCGA-F4-6460-01 COSM1419822 c.281A>G p.D94G Substitution - Missense 3:149075995-149075995 - pfg016T COSM1642130 c.21-4delA p.? Unknown 3:149084893-149084893 - TCGA-A6-6140-01 COSM3759822 c.1740A>G p.R580R Substitution - coding silent 3:149048879-149048879 - pfg008T COSM1642129 c.1376-3delT p.? Unknown 3:149055403-149055403 - TCGA-AP-A0LF-01 COSM1039715 c.2495G>A p.S832N Substitution - Missense 3:149040038-149040038 - TCGA-D1-A103-01 COSM1039733 c.28G>A p.V10I Substitution - Missense 3:149084882-149084882 - B66-Tumor COSM1752959 c.221C>T p.T74M Substitution - Missense 3:149084689-149084689 - 8066067 COSM3392116 c.1151G>A p.R384H Substitution - Missense 3:149063440-149063440 - ESCC-127T COSM3940337 c.908C>A p.T303K Substitution - Missense 3:149068322-149068322 - 8057513 COSM3392116 c.1151G>A p.R384H Substitution - Missense 3:149063440-149063440 - HCC2998 COSM3002605 c.657A>C p.E219D Substitution - Missense 3:149071628-149071628 - PTC-7C COSM4157356 c.1084G>C p.E362Q Substitution - Missense 3:149063507-149063507 - TCGA-BR-8382-01 COSM4114334 c.172G>A p.V58I Substitution - Missense 3:149084738-149084738 - 8014573 COSM218753 c.1265A>T p.E422V Substitution - Missense 3:149060663-149060663 - TCGA-AP-A051-01 COSM1039713 c.2517G>A p.M839I Substitution - Missense 3:149039679-149039679 - HT115 COSM3002603 c.800G>A p.R267Q Substitution - Missense 3:149071346-149071346 - HCC160 COSM3660253 c.1151G>T p.R384L Substitution - Missense 3:149063440-149063440 - TCGA-CH-5746-01 COSM1130320 c.909G>A p.T303T Substitution - coding silent 3:149068321-149068321 - TCGA-B5-A0JY-01 COSM275472 c.1688G>A p.R563Q Substitution - Missense 3:149048931-149048931 - CHC892T COSM4960543 c.1365G>A p.M455I Substitution - Missense 3:149059728-149059728 - OVCAR-8 COSM1670631 c.2759A>G p.N920S Substitution - Missense 3:149039086-149039086 - S01864 COSM5671763 c.219C>A p.Y73* Substitution - Nonsense 3:149084691-149084691 - ICGC_0034 COSM218753 c.1265A>T p.E422V Substitution - Missense 3:149060663-149060663 - cSCCP5 COSM137864 c.1406C>T p.T469I Substitution - Missense 3:149055370-149055370 - TCGA-06-0171-02 COSM2150341 c.86C>G p.S29* Substitution - Nonsense 3:149084824-149084824 - TCGA-02-0033-01 COSM3408336 c.9G>A p.W3* Substitution - Nonsense 3:149086328-149086328 - TCGA-A2-A0T1-01 COSM445774 c.3000T>G p.I1000M Substitution - Missense 3:149032250-149032250 - TCGA-EK-A3GK-01 COSM4854252 c.2678C>G p.S893* Substitution - Nonsense 3:149039167-149039167 - LP6005500-DNA_B01 COSM4409885 c.1432A>G p.T478A Substitution - Missense 3:149055344-149055344 - TCGA-F5-6814-01 COSM3427196 c.166G>T p.D56Y Substitution - Missense 3:149084744-149084744 - TCGA-06-0171 COSM2150341 c.86C>G p.S29* Substitution - Nonsense 3:149084824-149084824 - TCGA-AP-A059-01 COSM1039720 c.1278G>T p.R426S Substitution - Missense 3:149060650-149060650 - SJACT02_D COSM4968407 c.321A>T p.Q107H Substitution - Missense 3:149075955-149075955 - I2L-P24Tb-Tumor-Biopsy COSM5355414 c.1554G>A p.P518P Substitution - coding silent 3:149050295-149050295 - TCGA-AP-A0LM-01 COSM1039721 c.1227G>A p.P409P Substitution - coding silent 3:149060792-149060792 - RK026_C01 COSM1632887 c.1400delA p.K467fs*13 Deletion - Frameshift 3:149055376-149055376 - TCGA-B8-4620-01 COSM1136954 c.2260T>C p.S754P Substitution - Missense 3:149041606-149041606 - TCGA-A3-3365-01 COSM479560 c.799C>A p.R267R Substitution - coding silent 3:149071347-149071347 - 2492722 COSM5723701 c.1768C>T p.Q590* Substitution - Nonsense 3:149048152-149048152 - TCGA-B5-A0JY-01 COSM1039718 c.2367G>A p.Q789Q Substitution - coding silent 3:149041499-149041499 - 587284 COSM1209787 c.1280C>T p.A427V Substitution - Missense 3:149060648-149060648 - TCGA-BR-6452-01 COSM4114330 c.2980G>A p.E994K Substitution - Missense 3:149032270-149032270 - TCGA-B6-A0RU-01 COSM445776 c.257_259delAAC p.Q86delQ Deletion - In frame 3:149076017-149076019 - HX32T COSM3660251 c.2002A>G p.I668V Substitution - Missense 3:149046150-149046150 - sysucc-311T COSM5465740 c.2669G>T p.R890I Substitution - Missense 3:149039176-149039176 - C0023T COSM4152986 c.1664T>C p.I555T Substitution - Missense 3:149048955-149048955 - TCGA-BR-7851-01 COSM4114331 c.1982G>A p.R661H Substitution - Missense 3:149046170-149046170 - 8066067 COSM218753 c.1265A>T p.E422V Substitution - Missense 3:149060663-149060663 - PARAKF COSM5005388 c.354T>G p.A118A Substitution - coding silent 3:149075922-149075922 - TCGA-DY-A1H8-01 COSM1566654 c.463G>T p.E155* Substitution - Nonsense 3:149074281-149074281 - GC_370T-GC_370N COSM4772994 c.477G>T p.A159A Substitution - coding silent 3:149074267-149074267 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.3068 3q25.1-q26.1 603257

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I1000M c.3000T>G 3 148750037 BRCA A C Synonymous p.P145P c.435T>G 3 148792096 LGG A G Missense p.W264R c.790T>C 3 148789143 UCEC A G Synonymous p.H228H c.684T>C 3 148789388 UCEC A G Synonymous p.H313H c.939T>C 3 148786078 UCEC A G Synonymous p.Y195Y c.585T>C 3 148791054 HNSC A - IntronicDeletion . c.1376-3delT 3 148773190 STAD A T Missense p.L576I c.1726T>A 3 148766680 RCCC A T Synonymous p.I650I c.1950T>A 3 148763989 CM A T Synonymous p.I715I c.2145T>A 3 148760005 PRAD C A Missense p.A725S c.2173G>T 3 148759977 LUSC C A Missense p.L171F c.513G>T 3 148792018 HNSC C A Missense p.Q15H c.45G>T 3 148802652 LUAD C A Missense p.R426M c.1277G>T 3 148778438 CM C A Missense p.V434F c.1300G>T 3 148777580 LUSC C G Missense p.D513H c.1537G>C 3 148768099 HNSC C T Missense p.A357T c.1069G>A 3 148781309 HNSC C T Missense p.A818T c.2452G>A 3 148757868 LUSC C T Missense p.G152E c.455G>A 3 148792076 CM C T Missense p.G189E c.566G>A 3 148791073 BRCA C T Missense p.G511S c.1531G>A 3 148768105 GBM C T Missense p.R157K c.470G>A 3 148792061 CM C T Missense p.R620H c.1859G>A 3 148765848 COREAD C T Missense p.S544N c.1631G>A 3 148766775 MM C T Missense p.S832N c.2495G>A 3 148757825 UCEC C T Missense p.V103M c.307G>A 3 148793756 HNSC C T Nonsense p.W250* c.749G>A 3 148789184 LUSC C T Nonsense p.W250* c.749G>A 3 148789184 RCCC C T Nonsense p.W3* c.9G>A 3 148804115 GBM C T SpliceAcceptorSNV . c.895-1G>A 3 148786123 LUSC C T Synonymous p.K742K c.2226G>A 3 148759427 CM G A Missense p.P731L c.2192C>T 3 148759958 CM G A Missense p.R632C c.1894C>T 3 148764045 LUAD G A Missense p.R713W c.2137C>T 3 148760013 HNSC G A Missense p.S161L c.482C>T 3 148792049 CM G A Missense p.T958I c.2873C>T 3 148752709 LUSC G A Missense p.T987I c.2960C>T 3 148750077 LUAD G A Synonymous p.D356D c.1068C>T 3 148781310 UCEC G A Synonymous p.D993D c.2979C>T 3 148750058 BRCA G A Synonymous p.G109G c.327C>T 3 148793736 CM G A Synonymous p.I43I c.129C>T 3 148802568 HNSC G A Synonymous p.S884S c.2652C>T 3 148756980 CM G C Missense p.I369M c.1107C>G 3 148781271 HNSC G C Missense p.I481M c.1443C>G 3 148773120 BLCA G C Missense p.L630V c.1888C>G 3 148765819 STAD G C Nonsense p.S29* c.86C>G 3 148802611 GBM G T Synonymous p.R926R c.2776C>A 3 148756856 CM GTT - InFrameDeletion p.Q86delQ c.257_259delAAC 3 148793804 BRCA T A Missense p.E422V c.1265A>T 3 148778450 PAAD T A Missense p.H547L c.1640A>T 3 148766766 LUAD T A Missense p.K781N c.2343A>T 3 148759310 LUAD T A Missense p.M839L c.2515A>T 3 148757468 CM T A Missense p.S184C c.550A>T 3 148791089 LUAD T A Synonymous p.G542G c.1626A>T 3 148766780 CM T C Missense p.N335S c.1004A>G 3 148782640 CLL T C Missense p.T530A c.1588A>G 3 148768048 SCLC T C SpliceAcceptorSNV . c.530-2A>G 3 148791111 LUAD T C Synonymous p.V778V c.2334A>G 3 148759319 COREAD T - Frameshift p.T469Lfs*11 c.1401delG 3 148773162 HC T G Missense p.K413Q c.1237A>C 3 148778569 HNSC T G Synonymous p.G542G c.1626A>C 3 148766780 HNSC T - IntronicDeletion . c.21-4delA 3 148802680 STAD