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 129239080 129239080 + Missense_Mutation SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr3:129239080G>T c.3698G>T c.(3697-3699)cGc>cTc p.R1233L BLCA 3 129182458 129182458 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr3:129182458C>T c.405C>T c.(403-405)atC>atT p.I135I BLCA 3 129185821 129185821 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 g.chr3:129185821C>G c.652C>G c.(652-654)Ctg>Gtg p.L218V BLCA 3 129195257 129195257 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 g.chr3:129195257C>G c.916C>G c.(916-918)Ctt>Gtt p.L306V BLCA 3 129195584 129195584 + Missense_Mutation SNP T T A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 g.chr3:129195584T>A c.1087T>A c.(1087-1089)Tat>Aat p.Y363N BLCA 3 129196909 129196909 + Nonsense_Mutation SNP C C T TCGA-GU-AATQ-01A-11D-A391-08 TCGA-GU-AATQ-10A-01D-A394-08 g.chr3:129196909C>T c.1198C>T c.(1198-1200)Cga>Tga p.R400* BLCA 3 129196976 129196976 + Missense_Mutation SNP T T G TCGA-YF-AA3L-01A-11D-A38G-08 TCGA-YF-AA3L-10A-01D-A38J-08 g.chr3:129196976T>G c.1265T>G c.(1264-1266)aTg>aGg p.M422R BLCA 3 129214429 129214429 + Silent SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr3:129214429C>A c.2187C>A c.(2185-2187)ctC>ctA p.L729L BLCA 3 129218907 129218907 + Missense_Mutation SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr3:129218907G>A c.2371G>A c.(2371-2373)Gac>Aac p.D791N BLCA 3 129221706 129221706 + Missense_Mutation SNP A A G TCGA-XF-A9SJ-01A-11D-A391-08 TCGA-XF-A9SJ-10A-01D-A394-08 g.chr3:129221706A>G c.2528A>G c.(2527-2529)gAg>gGg p.E843G BLCA 3 129231193 129231193 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr3:129231193C>G c.2925C>G c.(2923-2925)ttC>ttG p.F975L BLCA 3 129231226 129231226 + Silent SNP C C T TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr3:129231226C>T c.2958C>T c.(2956-2958)ccC>ccT p.P986P BLCA 3 129233251 129233251 + Missense_Mutation SNP G G T TCGA-GU-A767-01A-11D-A32B-08 TCGA-GU-A767-10A-01D-A329-08 g.chr3:129233251G>T c.3007G>T c.(3007-3009)Gcc>Tcc p.A1003S BRCA 3 129180117 129180117 + Nonsense_Mutation SNP C C T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 g.chr3:129180117C>T c.319C>T c.(319-321)Caa>Taa p.Q107* BRCA 3 129183529 129183529 + Silent SNP C C A TCGA-D8-A1JN-01A-11D-A13L-09 TCGA-D8-A1JN-10A-01D-A13O-09 g.chr3:129183529C>A c.468C>A c.(466-468)atC>atA p.I156I BRCA 3 129185735 129185735 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr3:129185735G>A c.566G>A c.(565-567)cGa>cAa p.R189Q BRCA 3 129195606 129195606 + Missense_Mutation SNP C C G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 g.chr3:129195606C>G c.1109C>G c.(1108-1110)aCt>aGt p.T370S BRCA 3 129200411 129200411 + Silent SNP C C G TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 g.chr3:129200411C>G c.1527C>G c.(1525-1527)gtC>gtG p.V509V BRCA 3 129207141 129207141 + Frame_Shift_Del DEL G G - TCGA-A2-A0SU-01A-11D-A099-09 TCGA-A2-A0SU-10A-01D-A099-09 g.chr3:129207141delG c.1893delG c.(1891-1893)aagfs p.K631fs BRCA 3 129207207 129207207 + Silent SNP G G A TCGA-BH-A0AU-01A-11D-A12Q-09 TCGA-BH-A0AU-11A-11D-A12Q-09 g.chr3:129207207G>A c.1959G>A c.(1957-1959)gcG>gcA p.A653A BRCA 3 129225273 129225274 + Frame_Shift_Del DEL AG AG - TCGA-E9-A5FK-01A-11D-A27P-09 TCGA-E9-A5FK-10A-01D-A27P-09 g.chr3:129225273_129225274delAG c.2672_2673delAG c.(2671-2673)cagfs p.Q891fs BRCA 3 129225321 129225321 + Missense_Mutation SNP C C G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 g.chr3:129225321C>G c.2720C>G c.(2719-2721)gCg>gGg p.A907G BRCA 3 129234420 129234420 + Silent SNP C C T TCGA-AC-A5EH-01A-11D-A28B-09 TCGA-AC-A5EH-10A-01D-A28E-09 g.chr3:129234420C>T c.3243C>T c.(3241-3243)ttC>ttT p.F1081F BRCA 3 129237961 129237961 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr3:129237961C>A c.3403C>A c.(3403-3405)Ctg>Atg p.L1135M CESC 3 129200465 129200465 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr3:129200465G>C c.1581G>C c.(1579-1581)aaG>aaC p.K527N CESC 3 129200485 129200485 + Missense_Mutation SNP A A T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 g.chr3:129200485A>T c.1601A>T c.(1600-1602)gAa>gTa p.E534V CESC 3 129234393 129234393 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr3:129234393C>T c.3216C>T c.(3214-3216)aaC>aaT p.N1072N CESC 3 129236334 129236334 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 g.chr3:129236334C>T c.3288C>T c.(3286-3288)ttC>ttT p.F1096F CHOL 3 129218838 129218838 + Missense_Mutation SNP G G T TCGA-ZH-A8Y5-01A-11D-A417-09 TCGA-ZH-A8Y5-10A-01D-A41A-09 g.chr3:129218838G>T c.2302G>T c.(2302-2304)Gtg>Ttg p.V768L COAD 3 129177448 129177448 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:129177448G>A c.200G>A c.(199-201)cGc>cAc p.R67H COAD 3 129177485 129177485 + Missense_Mutation SNP C C G TCGA-F4-6809-01A-11D-1835-10 TCGA-F4-6809-10A-01D-1835-10 g.chr3:129177485C>G c.237C>G c.(235-237)atC>atG p.I79M COAD 3 129185838 129185838 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr3:129185838C>T c.669C>T c.(667-669)taC>taT p.Y223Y COAD 3 129185899 129185901 + In_Frame_Del DEL GAC GAC - TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr3:129185899_129185901delGAC c.730_732delGAC c.(730-732)gacdel p.D245del COAD 3 129185901 129185901 + Silent SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr3:129185901C>T c.732C>T c.(730-732)gaC>gaT p.D244D COAD 3 129195610 129195610 + Silent SNP C C T TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr3:129195610C>T c.1113C>T c.(1111-1113)gaC>gaT p.D371D COAD 3 129207187 129207187 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:129207187C>T c.1939C>T c.(1939-1941)Cgt>Tgt p.R647C COAD 3 129218765 129218765 + Silent SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr3:129218765C>T c.2229C>T c.(2227-2229)gaC>gaT p.D743D COAD 3 129218838 129218838 + Missense_Mutation SNP G G A TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr3:129218838G>A c.2302G>A c.(2302-2304)Gtg>Atg p.V768M COAD 3 129218838 129218838 + Missense_Mutation SNP G G C TCGA-DM-A285-01A-11D-A16V-10 TCGA-DM-A285-10A-01D-A16V-10 g.chr3:129218838G>C c.2302G>C c.(2302-2304)Gtg>Ctg p.V768L COAD 3 129218840 129218840 + Silent SNP G G T TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr3:129218840G>T c.2304G>T c.(2302-2304)gtG>gtT p.V768V COAD 3 129226524 129226524 + Missense_Mutation SNP G G T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr3:129226524G>T c.2805G>T c.(2803-2805)aaG>aaT p.K935N COAD 3 129231177 129231177 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:129231177G>A c.2909G>A c.(2908-2910)cGt>cAt p.R970H COAD 3 129237951 129237951 + Splice_Site SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr3:129237951C>T c.3393C>T c.(3391-3393)agC>agT p.S1131S COAD 3 129238001 129238001 + Missense_Mutation SNP A A G TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr3:129238001A>G c.3443A>G c.(3442-3444)gAc>gGc p.D1148G COAD 3 129238530 129238530 + Silent SNP A A G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr3:129238530A>G c.3591A>G c.(3589-3591)tcA>tcG p.S1197S COAD 3 129239080 129239080 + Missense_Mutation SNP G G A TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr3:129239080G>A c.3698G>A c.(3697-3699)cGc>cAc p.R1233H COADREAD 3 129177448 129177448 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:129177448G>A c.200G>A c.(199-201)cGc>cAc p.R67H COADREAD 3 129177485 129177485 + Missense_Mutation SNP C C G TCGA-F4-6809-01A-11D-1835-10 TCGA-F4-6809-10A-01D-1835-10 g.chr3:129177485C>G c.237C>G c.(235-237)atC>atG p.I79M COADREAD 3 129183577 129183577 + Silent SNP G G A TCGA-AG-3580-01A-01W-0831-10 TCGA-AG-3580-10A-01W-0831-10 g.chr3:129183577G>A c.516G>A c.(514-516)ccG>ccA p.P172P COADREAD 3 129185838 129185838 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr3:129185838C>T c.669C>T c.(667-669)taC>taT p.Y223Y COADREAD 3 129185862 129185862 + Missense_Mutation SNP G G T TCGA-DY-A1DF-01A-11D-A152-10 TCGA-DY-A1DF-10A-01D-A152-10 g.chr3:129185862G>T c.693G>T c.(691-693)gaG>gaT p.E231D COADREAD 3 129185899 129185901 + In_Frame_Del DEL GAC GAC - TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr3:129185899_129185901delGAC c.730_732delGAC c.(730-732)gacdel p.D245del COADREAD 3 129185901 129185901 + Silent SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr3:129185901C>T c.732C>T c.(730-732)gaC>gaT p.D244D COADREAD 3 129195610 129195610 + Silent SNP C C T TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr3:129195610C>T c.1113C>T c.(1111-1113)gaC>gaT p.D371D COADREAD 3 129207187 129207187 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:129207187C>T c.1939C>T c.(1939-1941)Cgt>Tgt p.R647C COADREAD 3 129218765 129218765 + Silent SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr3:129218765C>T c.2229C>T c.(2227-2229)gaC>gaT p.D743D COADREAD 3 129218838 129218838 + Missense_Mutation SNP G G A TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr3:129218838G>A c.2302G>A c.(2302-2304)Gtg>Atg p.V768M COADREAD 3 129218838 129218838 + Missense_Mutation SNP G G C TCGA-DM-A285-01A-11D-A16V-10 TCGA-DM-A285-10A-01D-A16V-10 g.chr3:129218838G>C c.2302G>C c.(2302-2304)Gtg>Ctg p.V768L COADREAD 3 129218840 129218840 + Silent SNP G G T TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr3:129218840G>T c.2304G>T c.(2302-2304)gtG>gtT p.V768V COADREAD 3 129218893 129218893 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:129218893A>G c.2357A>G c.(2356-2358)gAc>gGc p.D786G COADREAD 3 129221592 129221592 + Missense_Mutation SNP G G A TCGA-AG-A00C-01A-01W-A005-10 TCGA-AG-A00C-10A-01W-A005-10 g.chr3:129221592G>A c.2414G>A c.(2413-2415)cGc>cAc p.R805H COADREAD 3 129223182 129223182 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:129223182G>T c.2568G>T c.(2566-2568)aaG>aaT p.K856N COADREAD 3 129226524 129226524 + Missense_Mutation SNP G G T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr3:129226524G>T c.2805G>T c.(2803-2805)aaG>aaT p.K935N COADREAD 3 129231177 129231177 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:129231177G>A c.2909G>A c.(2908-2910)cGt>cAt p.R970H COADREAD 3 129237951 129237951 + Splice_Site SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr3:129237951C>T c.3393C>T c.(3391-3393)agC>agT p.S1131S COADREAD 3 129238001 129238001 + Missense_Mutation SNP A A G TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr3:129238001A>G c.3443A>G c.(3442-3444)gAc>gGc p.D1148G COADREAD 3 129238530 129238530 + Silent SNP A A G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr3:129238530A>G c.3591A>G c.(3589-3591)tcA>tcG p.S1197S COADREAD 3 129239080 129239080 + Missense_Mutation SNP G G A TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr3:129239080G>A c.3698G>A c.(3697-3699)cGc>cAc p.R1233H DLBC 3 129237966 129237966 + Silent SNP G G A TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr3:129237966G>A c.3408G>A c.(3406-3408)cgG>cgA p.R1136R ESCA 3 129195555 129195555 + Missense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 g.chr3:129195555G>T c.1058G>T c.(1057-1059)aGc>aTc p.S353I ESCA 3 129195640 129195641 + Frame_Shift_Ins INS - - A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 g.chr3:129195640_129195641insA c.1143_1144insA c.(1144-1146)aaafs p.K382fs ESCA 3 129218827 129218827 + Missense_Mutation SNP C C A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 g.chr3:129218827C>A c.2291C>A c.(2290-2292)cCc>cAc p.P764H GBM 3 129195512 129195512 + Missense_Mutation SNP G G A TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr3:129195512G>A c.1015G>A c.(1015-1017)Ggc>Agc p.G339S GBM 3 129214370 129214370 + Missense_Mutation SNP G G A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 g.chr3:129214370G>A c.2128G>A c.(2128-2130)Gcc>Acc p.A710T GBMLGG 3 129195512 129195512 + Missense_Mutation SNP G G A TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr3:129195512G>A c.1015G>A c.(1015-1017)Ggc>Agc p.G339S GBMLGG 3 129196977 129196977 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:129196977G>A c.1266G>A c.(1264-1266)atG>atA p.M422I GBMLGG 3 129207235 129207235 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:129207235A>G c.1987A>G c.(1987-1989)Aag>Gag p.K663E GBMLGG 3 129214370 129214370 + Missense_Mutation SNP G G A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 g.chr3:129214370G>A c.2128G>A c.(2128-2130)Gcc>Acc p.A710T GBMLGG 3 129214370 129214370 + Missense_Mutation SNP G G A TCGA-E1-5322-01A-01D-1468-08 TCGA-E1-5322-10A-01D-1468-08 g.chr3:129214370G>A c.2128G>A c.(2128-2130)Gcc>Acc p.A710T GBMLGG 3 129221571 129221571 + Missense_Mutation SNP G G A TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 g.chr3:129221571G>A c.2393G>A c.(2392-2394)cGc>cAc p.R798H HNSC 3 129168739 129168739 + Missense_Mutation SNP G G A TCGA-F7-8298-01A-11D-2394-08 TCGA-F7-8298-10A-01D-2394-08 g.chr3:129168739G>A c.67G>A c.(67-69)Gat>Aat p.D23N HNSC 3 129180117 129180117 + Nonsense_Mutation SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 g.chr3:129180117C>T c.319C>T c.(319-321)Caa>Taa p.Q107* HNSC 3 129182445 129182445 + Nonsense_Mutation SNP C C G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 g.chr3:129182445C>G c.392C>G c.(391-393)tCa>tGa p.S131* HNSC 3 129183550 129183550 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 g.chr3:129183550C>T c.489C>T c.(487-489)ggC>ggT p.G163G HNSC 3 129183607 129183607 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 g.chr3:129183607C>T c.546C>T c.(544-546)atC>atT p.I182I HNSC 3 129195646 129195646 + Splice_Site SNP T T A TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 g.chr3:129195646T>A c.e11+2 HNSC 3 129196910 129196910 + Missense_Mutation SNP G G A TCGA-MZ-A5BI-01A-31D-A34J-08 TCGA-MZ-A5BI-10C-01D-A34M-08 g.chr3:129196910G>A c.1199G>A c.(1198-1200)cGa>cAa p.R400Q HNSC 3 129233286 129233286 + Silent SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 g.chr3:129233286G>A c.3042G>A c.(3040-3042)ctG>ctA p.L1014L HNSC 3 129233302 129233302 + Missense_Mutation SNP G G C TCGA-C9-A47Z-01A-11D-A24D-08 TCGA-C9-A47Z-10A-01D-A24F-08 g.chr3:129233302G>C c.3058G>C c.(3058-3060)Gac>Cac p.D1020H HNSC 3 129236439 129236439 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr3:129236439T>C c.e27+2 KICH 3 129233374 129233374 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr3:129233374G>A c.3130G>A c.(3130-3132)Gcc>Acc p.A1044T KIPAN 3 129185869 129185869 + Missense_Mutation SNP G G A TCGA-P4-AAVL-01A-11D-A42J-10 TCGA-P4-AAVL-11A-11D-A42M-10 g.chr3:129185869G>A c.700G>A c.(700-702)Gaa>Aaa p.E234K KIPAN 3 129200472 129200472 + Missense_Mutation SNP G G C TCGA-HE-A5NI-01A-11D-A26P-10 TCGA-HE-A5NI-10A-01D-A26P-10 g.chr3:129200472G>C c.1588G>C c.(1588-1590)Gcc>Ccc p.A530P KIPAN 3 129214436 129214436 + Frame_Shift_Del DEL T T - TCGA-MH-A55W-01A-11D-A26P-10 TCGA-MH-A55W-10A-01D-A26P-10 g.chr3:129214436delT c.2194delT c.(2194-2196)tttfs p.F732fs KIPAN 3 129233374 129233374 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr3:129233374G>A c.3130G>A c.(3130-3132)Gcc>Acc p.A1044T KIRP 3 129185869 129185869 + Missense_Mutation SNP G G A TCGA-P4-AAVL-01A-11D-A42J-10 TCGA-P4-AAVL-11A-11D-A42M-10 g.chr3:129185869G>A c.700G>A c.(700-702)Gaa>Aaa p.E234K KIRP 3 129200472 129200472 + Missense_Mutation SNP G G C TCGA-HE-A5NI-01A-11D-A26P-10 TCGA-HE-A5NI-10A-01D-A26P-10 g.chr3:129200472G>C c.1588G>C c.(1588-1590)Gcc>Ccc p.A530P KIRP 3 129214436 129214436 + Frame_Shift_Del DEL T T - TCGA-MH-A55W-01A-11D-A26P-10 TCGA-MH-A55W-10A-01D-A26P-10 g.chr3:129214436delT c.2194delT c.(2194-2196)tttfs p.F732fs LGG 3 129196977 129196977 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:129196977G>A c.1266G>A c.(1264-1266)atG>atA p.M422I LGG 3 129207235 129207235 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:129207235A>G c.1987A>G c.(1987-1989)Aag>Gag p.K663E LGG 3 129214370 129214370 + Missense_Mutation SNP G G A TCGA-E1-5322-01A-01D-1468-08 TCGA-E1-5322-10A-01D-1468-08 g.chr3:129214370G>A c.2128G>A c.(2128-2130)Gcc>Acc p.A710T LGG 3 129221571 129221571 + Missense_Mutation SNP G G A TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 g.chr3:129221571G>A c.2393G>A c.(2392-2394)cGc>cAc p.R798H LIHC 3 129238004 129238004 + Missense_Mutation SNP C C A TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr3:129238004C>A c.3446C>A c.(3445-3447)cCg>cAg p.P1149Q LIHC 3 129239078 129239078 + Missense_Mutation SNP C C G TCGA-G3-AAV1-01A-11D-A382-10 TCGA-G3-AAV1-10A-01D-A385-10 g.chr3:129239078C>G c.3696C>G c.(3694-3696)tgC>tgG p.C1232W LUAD 3 129168748 129168748 + Missense_Mutation SNP C C G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 g.chr3:129168748C>G c.76C>G c.(76-78)Caa>Gaa p.Q26E LUAD 3 129183488 129183488 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 g.chr3:129183488G>T c.427G>T c.(427-429)Gat>Tat p.D143Y LUAD 3 129185898 129185898 + Missense_Mutation SNP G G T TCGA-35-5375-01A-01D-1625-08 TCGA-35-5375-10A-01D-1625-08 g.chr3:129185898G>T c.729G>T c.(727-729)agG>agT p.R243S LUAD 3 129195237 129195237 + Missense_Mutation SNP G G T TCGA-55-A492-01A-11D-A24D-08 TCGA-55-A492-10A-01D-A24F-08 g.chr3:129195237G>T c.896G>T c.(895-897)gGt>gTt p.G299V LUAD 3 129195286 129195286 + Silent SNP G G T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr3:129195286G>T c.945G>T c.(943-945)ggG>ggT p.G315G LUAD 3 129195584 129195584 + Missense_Mutation SNP T T C TCGA-44-7667-01A-31D-2063-08 TCGA-44-7667-10A-01D-2063-08 g.chr3:129195584T>C c.1087T>C c.(1087-1089)Tat>Cat p.Y363H LUAD 3 129196948 129196948 + Nonsense_Mutation SNP G G T TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr3:129196948G>T c.1237G>T c.(1237-1239)Gag>Tag p.E413* LUAD 3 129210994 129210994 + Missense_Mutation SNP G G C TCGA-55-8614-01A-11D-2393-08 TCGA-55-8614-10A-01D-2393-08 g.chr3:129210994G>C c.2003G>C c.(2002-2004)aGa>aCa p.R668T LUAD 3 129211017 129211017 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 g.chr3:129211017G>C c.2026G>C c.(2026-2028)Gag>Cag p.E676Q LUAD 3 129233292 129233292 + Silent SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr3:129233292G>T c.3048G>T c.(3046-3048)cgG>cgT p.R1016R LUAD 3 129236352 129236352 + Silent SNP C C T TCGA-69-8255-01A-11D-2284-08 TCGA-69-8255-10A-01D-2284-08 g.chr3:129236352C>T c.3306C>T c.(3304-3306)atC>atT p.I1102I LUAD 3 129239079 129239079 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 g.chr3:129239079C>T c.3697C>T c.(3697-3699)Cgc>Tgc p.R1233C LUSC 3 129183505 129183505 + Silent SNP G G A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 g.chr3:129183505G>A c.444G>A c.(442-444)gcG>gcA p.A148A LUSC 3 129207101 129207101 + Splice_Site SNP C C T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 g.chr3:129207101C>T c.1853C>T c.(1852-1854)tCc>tTc p.S618F LUSC 3 129221605 129221605 + Silent SNP G G T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr3:129221605G>T c.2427G>T c.(2425-2427)ctG>ctT p.L809L LUSC 3 129225321 129225321 + Missense_Mutation SNP C C T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 g.chr3:129225321C>T c.2720C>T c.(2719-2721)gCg>gTg p.A907V LUSC 3 129226555 129226555 + Nonsense_Mutation SNP C C T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 g.chr3:129226555C>T c.2836C>T c.(2836-2838)Cag>Tag p.Q946* LUSC 3 129238477 129238477 + Missense_Mutation SNP G G C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 g.chr3:129238477G>C c.3538G>C c.(3538-3540)Gat>Cat p.D1180H OV 3 129218838 129218838 + Missense_Mutation SNP G G T TCGA-24-1422-01A-01W-0545-08 TCGA-24-1422-10A-01W-0545-08 g.chr3:129218838G>T c.2302G>T c.(2302-2304)Gtg>Ttg p.V768L OV 3 129238543 129238543 + Missense_Mutation SNP G G A TCGA-29-2431-01A-01D-1526-09 TCGA-29-2431-10A-01D-1526-09 g.chr3:129238543G>A c.3604G>A c.(3604-3606)Gcc>Acc p.A1202T PAAD 3 129221571 129221571 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 g.chr3:129221571G>A c.2393G>A c.(2392-2394)cGc>cAc p.R798H PAAD 3 129221571 129221571 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 g.chr3:129221571G>A c.2393G>A c.(2392-2394)cGc>cAc p.R798H PAAD 3 129238491 129238491 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:129238491G>T c.3552G>T c.(3550-3552)aaG>aaT p.K1184N PAAD 3 129238526 129238526 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:129238526G>A c.3587G>A c.(3586-3588)cGc>cAc p.R1196H PRAD 3 129168739 129168739 + Missense_Mutation SNP G G T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 g.chr3:129168739G>T c.67G>T c.(67-69)Gat>Tat p.D23Y PRAD 3 129185799 129185799 + Nonsense_Mutation SNP T T G TCGA-HC-A76W-01A-11D-A33T-08 TCGA-HC-A76W-10A-01D-A33W-08 g.chr3:129185799T>G c.630T>G c.(628-630)taT>taG p.Y210* PRAD 3 129188218 129188218 + Missense_Mutation SNP C C G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 g.chr3:129188218C>G c.774C>G c.(772-774)gaC>gaG p.D258E PRAD 3 129188250 129188250 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:129188250G>A c.806G>A c.(805-807)aGt>aAt p.S269N PRAD 3 129214427 129214427 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:129214427C>T c.2185C>T c.(2185-2187)Ctc>Ttc p.L729F PRAD 3 129218783 129218783 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:129218783G>A c.2247G>A c.(2245-2247)atG>atA p.M749I READ 3 129183577 129183577 + Silent SNP G G A TCGA-AG-3580-01A-01W-0831-10 TCGA-AG-3580-10A-01W-0831-10 g.chr3:129183577G>A c.516G>A c.(514-516)ccG>ccA p.P172P READ 3 129185862 129185862 + Missense_Mutation SNP G G T TCGA-DY-A1DF-01A-11D-A152-10 TCGA-DY-A1DF-10A-01D-A152-10 g.chr3:129185862G>T c.693G>T c.(691-693)gaG>gaT p.E231D READ 3 129218893 129218893 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:129218893A>G c.2357A>G c.(2356-2358)gAc>gGc p.D786G READ 3 129221592 129221592 + Missense_Mutation SNP G G A TCGA-AG-A00C-01A-01W-A005-10 TCGA-AG-A00C-10A-01W-A005-10 g.chr3:129221592G>A c.2414G>A c.(2413-2415)cGc>cAc p.R805H READ 3 129223182 129223182 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:129223182G>T c.2568G>T c.(2566-2568)aaG>aaT p.K856N SARC 3 129226538 129226538 + Missense_Mutation SNP G G T TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 g.chr3:129226538G>T c.2819G>T c.(2818-2820)gGc>gTc p.G940V SKCM 3 129168726 129168726 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:129168726C>T c.54C>T c.(52-54)atC>atT p.I18I SKCM 3 129183591 129183591 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr3:129183591C>T c.530C>T c.(529-531)tCg>tTg p.S177L SKCM 3 129185811 129185811 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:129185811C>T c.642C>T c.(640-642)atC>atT p.I214I SKCM 3 129185821 129185821 + Silent SNP C C T TCGA-EE-A20F-06A-21D-A196-08 TCGA-EE-A20F-10A-01D-A198-08 g.chr3:129185821C>T c.652C>T c.(652-654)Ctg>Ttg p.L218L SKCM 3 129195284 129195284 + Missense_Mutation SNP G G A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 g.chr3:129195284G>A c.943G>A c.(943-945)Ggg>Agg p.G315R SKCM 3 129195306 129195306 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 g.chr3:129195306C>T c.965C>T c.(964-966)tCc>tTc p.S322F SKCM 3 129195589 129195589 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 g.chr3:129195589C>T c.1092C>T c.(1090-1092)gcC>gcT p.A364A SKCM 3 129198697 129198697 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr3:129198697C>T c.1420C>T c.(1420-1422)Cgt>Tgt p.R474C SKCM 3 129198739 129198739 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:129198739C>T c.1462C>T c.(1462-1464)Ctc>Ttc p.L488F SKCM 3 129200535 129200535 + Nonsense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr3:129200535C>T c.1651C>T c.(1651-1653)Cag>Tag p.Q551* SKCM 3 129202332 129202332 + Missense_Mutation SNP C C T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 g.chr3:129202332C>T c.1658C>T c.(1657-1659)cCa>cTa p.P553L SKCM 3 129202459 129202459 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr3:129202459C>T c.1785C>T c.(1783-1785)gtC>gtT p.V595V SKCM 3 129207101 129207101 + Splice_Site SNP C C T TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr3:129207101C>T c.1853C>T c.(1852-1854)tCc>tTc p.S618F SKCM 3 129207226 129207226 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr3:129207226G>A c.1978G>A c.(1978-1980)Gaa>Aaa p.E660K SKCM 3 129207226 129207226 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:129207226G>A c.1978G>A c.(1978-1980)Gaa>Aaa p.E660K SKCM 3 129221661 129221661 + Missense_Mutation SNP A A G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr3:129221661A>G c.2483A>G c.(2482-2484)tAc>tGc p.Y828C SKCM 3 129221680 129221680 + Silent SNP C C T TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr3:129221680C>T c.2502C>T c.(2500-2502)ctC>ctT p.L834L SKCM 3 129221686 129221686 + Silent SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr3:129221686C>T c.2508C>T c.(2506-2508)tcC>tcT p.S836S SKCM 3 129221700 129221700 + Missense_Mutation SNP A A T TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr3:129221700A>T c.2522A>T c.(2521-2523)cAc>cTc p.H841L SKCM 3 129223186 129223186 + Missense_Mutation SNP C C T TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr3:129223186C>T c.2572C>T c.(2572-2574)Cct>Tct p.P858S SKCM 3 129233282 129233282 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 g.chr3:129233282G>A c.3038G>A c.(3037-3039)aGg>aAg p.R1013K SKCM 3 129233370 129233370 + Silent SNP C C T TCGA-FS-A1Z7-06A-11D-A197-08 TCGA-FS-A1Z7-10A-01D-A199-08 g.chr3:129233370C>T c.3126C>T c.(3124-3126)atC>atT p.I1042I SKCM 3 129233371 129233371 + Missense_Mutation SNP C C T TCGA-FS-A1Z7-06A-11D-A197-08 TCGA-FS-A1Z7-10A-01D-A199-08 g.chr3:129233371C>T c.3127C>T c.(3127-3129)Cgc>Tgc p.R1043C SKCM 3 129236373 129236373 + Silent SNP C C T TCGA-ER-A19W-06A-41D-A23B-08 TCGA-ER-A19W-10A-01D-A23B-08 g.chr3:129236373C>T c.3327C>T c.(3325-3327)tcC>tcT p.S1109S SKCM 3 129237958 129237958 + Missense_Mutation SNP A A G TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 g.chr3:129237958A>G c.3400A>G c.(3400-3402)Att>Gtt p.I1134V SKCM 3 129237967 129237967 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:129237967C>T c.3409C>T c.(3409-3411)Cta>Tta p.L1137L SKCM 3 129238473 129238473 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr3:129238473C>T c.3534C>T c.(3532-3534)cgC>cgT p.R1178R SKCM 3 129238505 129238505 + Missense_Mutation SNP C C T TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr3:129238505C>T c.3566C>T c.(3565-3567)cCc>cTc p.P1189L SKCM 3 129238562 129238562 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr3:129238562C>T c.3623C>T c.(3622-3624)cCc>cTc p.P1208L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 3 129231188 129231188 single base substitution C A 3_prime_UTR_variant AML-US 3 129231188 129231188 single base substitution C A exon_variant AML-US 3 129231188 129231188 single base substitution C A missense_variant L1025I 3073C>A AML-US 3 129231188 129231188 single base substitution C A missense_variant L765I 2293C>A AML-US 3 129231188 129231188 single base substitution C A missense_variant L824I 2470C>A AML-US 3 129231188 129231188 single base substitution C A missense_variant L851I 2551C>A AML-US 3 129231188 129231188 single base substitution C A missense_variant L864I 2590C>A AML-US 3 129231188 129231188 single base substitution C A missense_variant L915I 2743C>A AML-US 3 129231188 129231188 single base substitution C A missense_variant L967I 2899C>A AML-US 3 129231188 129231188 single base substitution C A missense_variant L974I 2920C>A AML-US 3 129231188 129231188 single base substitution C A upstream_gene_variant BLCA-CN 3 129155400 129155400 single base substitution C G upstream_gene_variant BLCA-US 3 129185821 129185821 single base substitution C G 3_prime_UTR_variant BLCA-US 3 129185821 129185821 single base substitution C G downstream_gene_variant BLCA-US 3 129185821 129185821 single base substitution C G intron_variant BLCA-US 3 129185821 129185821 single base substitution C G missense_variant L218V 652C>G BLCA-US 3 129185821 129185821 single base substitution C G missense_variant L269V 805C>G BLCA-US 3 129185821 129185821 single base substitution C G missense_variant L68V 202C>G BLCA-US 3 129195257 129195257 single base substitution C G 3_prime_UTR_variant BLCA-US 3 129195257 129195257 single base substitution C G exon_variant BLCA-US 3 129195257 129195257 single base substitution C G missense_variant L132V 394C>G BLCA-US 3 129195257 129195257 single base substitution C G missense_variant L156V 466C>G BLCA-US 3 129195257 129195257 single base substitution C G missense_variant L184V 550C>G BLCA-US 3 129195257 129195257 single base substitution C G missense_variant L195V 583C>G BLCA-US 3 129195257 129195257 single base substitution C G missense_variant L200V 598C>G BLCA-US 3 129195257 129195257 single base substitution C G missense_variant L247V 739C>G BLCA-US 3 129195257 129195257 single base substitution C G missense_variant L298V 892C>G BLCA-US 3 129195257 129195257 single base substitution C G missense_variant L306V 916C>G BLCA-US 3 129195257 129195257 single base substitution C G missense_variant L357V 1069C>G BLCA-US 3 129195257 129195257 single base substitution C G missense_variant L97V 289C>G BLCA-US 3 129195257 129195257 single base substitution C G synonymous_variant ?97 BLCA-US 3 129195257 129195257 single base substitution C G upstream_gene_variant BLCA-US 3 129195584 129195584 single base substitution T A 3_prime_UTR_variant BLCA-US 3 129195584 129195584 single base substitution T A downstream_gene_variant BLCA-US 3 129195584 129195584 single base substitution T A exon_variant BLCA-US 3 129195584 129195584 single base substitution T A missense_variant Y154N 460T>A BLCA-US 3 129195584 129195584 single base substitution T A missense_variant Y189N 565T>A BLCA-US 3 129195584 129195584 single base substitution T A missense_variant Y213N 637T>A BLCA-US 3 129195584 129195584 single base substitution T A missense_variant Y241N 721T>A BLCA-US 3 129195584 129195584 single base substitution T A missense_variant Y252N 754T>A BLCA-US 3 129195584 129195584 single base substitution T A missense_variant Y257N 769T>A BLCA-US 3 129195584 129195584 single base substitution T A missense_variant Y304N 910T>A BLCA-US 3 129195584 129195584 single base substitution T A missense_variant Y355N 1063T>A BLCA-US 3 129195584 129195584 single base substitution T A missense_variant Y363N 1087T>A BLCA-US 3 129195584 129195584 single base substitution T A missense_variant Y414N 1240T>A BLCA-US 3 129195584 129195584 single base substitution T A upstream_gene_variant BLCA-US 3 129214429 129214429 single base substitution C A 3_prime_UTR_variant BLCA-US 3 129214429 129214429 single base substitution C A downstream_gene_variant BLCA-US 3 129214429 129214429 single base substitution C A exon_variant BLCA-US 3 129214429 129214429 single base substitution C A intron_variant BLCA-US 3 129214429 129214429 single base substitution C A synonymous_variant L226L 678C>A BLCA-US 3 129214429 129214429 single base substitution C A synonymous_variant L520L 1560C>A BLCA-US 3 129214429 129214429 single base substitution C A synonymous_variant L579L 1737C>A BLCA-US 3 129214429 129214429 single base substitution C A synonymous_variant L605L 1815C>A BLCA-US 3 129214429 129214429 single base substitution C A synonymous_variant L618L 1854C>A BLCA-US 3 129214429 129214429 single base substitution C A synonymous_variant L670L 2010C>A BLCA-US 3 129214429 129214429 single base substitution C A synonymous_variant L721L 2163C>A BLCA-US 3 129214429 129214429 single base substitution C A synonymous_variant L729L 2187C>A BLCA-US 3 129214429 129214429 single base substitution C A synonymous_variant L780L 2340C>A BLCA-US 3 129214429 129214429 single base substitution C A synonymous_variant L91L 273C>A BLCA-US 3 129231193 129231193 single base substitution C G 3_prime_UTR_variant BLCA-US 3 129231193 129231193 single base substitution C G exon_variant BLCA-US 3 129231193 129231193 single base substitution C G missense_variant F1026L 3078C>G BLCA-US 3 129231193 129231193 single base substitution C G missense_variant F766L 2298C>G BLCA-US 3 129231193 129231193 single base substitution C G missense_variant F825L 2475C>G BLCA-US 3 129231193 129231193 single base substitution C G missense_variant F852L 2556C>G BLCA-US 3 129231193 129231193 single base substitution C G missense_variant F865L 2595C>G BLCA-US 3 129231193 129231193 single base substitution C G missense_variant F916L 2748C>G BLCA-US 3 129231193 129231193 single base substitution C G missense_variant F968L 2904C>G BLCA-US 3 129231193 129231193 single base substitution C G missense_variant F975L 2925C>G BLCA-US 3 129231193 129231193 single base substitution C G upstream_gene_variant BOCA-UK 3 129197038 129197038 single base substitution G A 3_prime_UTR_variant BOCA-UK 3 129197038 129197038 single base substitution G A downstream_gene_variant BOCA-UK 3 129197038 129197038 single base substitution G A exon_variant BOCA-UK 3 129197038 129197038 single base substitution G A missense_variant A234T 700G>A BOCA-UK 3 129197038 129197038 single base substitution G A missense_variant A269T 805G>A BOCA-UK 3 129197038 129197038 single base substitution G A missense_variant A293T 877G>A BOCA-UK 3 129197038 129197038 single base substitution G A missense_variant A332T 994G>A BOCA-UK 3 129197038 129197038 single base substitution G A missense_variant A337T 1009G>A BOCA-UK 3 129197038 129197038 single base substitution G A missense_variant A384T 1150G>A BOCA-UK 3 129197038 129197038 single base substitution G A missense_variant A435T 1303G>A BOCA-UK 3 129197038 129197038 single base substitution G A missense_variant A443T 1327G>A BOCA-UK 3 129197038 129197038 single base substitution G A missense_variant A494T 1480G>A BOCA-UK 3 129197038 129197038 single base substitution G A upstream_gene_variant BRCA-EU 3 129155153 129155153 single base substitution C A upstream_gene_variant BRCA-EU 3 129155845 129155845 single base substitution C G upstream_gene_variant BRCA-EU 3 129156739 129156739 single base substitution C G upstream_gene_variant BRCA-EU 3 129157777 129157777 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 129159205 129159205 single base substitution C G 5_prime_UTR_variant BRCA-EU 3 129159205 129159205 single base substitution C G exon_variant BRCA-EU 3 129159205 129159205 single base substitution C G missense_variant A11G 32C>G BRCA-EU 3 129159710 129159710 single base substitution A G intron_variant BRCA-EU 3 129159972 129159972 single base substitution T C intron_variant BRCA-EU 3 129160098 129160098 single base substitution C G intron_variant BRCA-EU 3 129160941 129160941 deletion of <=200bp A - intron_variant BRCA-EU 3 129161685 129161685 single base substitution T A intron_variant BRCA-EU 3 129161728 129161728 insertion of <=200bp - T intron_variant BRCA-EU 3 129163047 129163047 single base substitution T A intron_variant BRCA-EU 3 129167489 129167489 single base substitution G A intron_variant BRCA-EU 3 129167489 129167489 single base substitution G A upstream_gene_variant BRCA-EU 3 129167527 129167527 single base substitution T C intron_variant BRCA-EU 3 129167527 129167527 single base substitution T C upstream_gene_variant BRCA-EU 3 129168307 129168307 single base substitution G A intron_variant BRCA-EU 3 129168307 129168307 single base substitution G A upstream_gene_variant BRCA-EU 3 129168526 129168526 single base substitution C T intron_variant BRCA-EU 3 129168526 129168526 single base substitution C T upstream_gene_variant BRCA-EU 3 129169111 129169111 single base substitution A T intron_variant BRCA-EU 3 129170637 129170637 single base substitution G C intron_variant BRCA-EU 3 129171359 129171359 single base substitution G C downstream_gene_variant BRCA-EU 3 129171359 129171359 single base substitution G C intron_variant BRCA-EU 3 129172180 129172180 single base substitution G A downstream_gene_variant BRCA-EU 3 129172180 129172180 single base substitution G A intron_variant BRCA-EU 3 129172742 129172742 single base substitution A G downstream_gene_variant BRCA-EU 3 129172742 129172742 single base substitution A G intron_variant BRCA-EU 3 129174363 129174363 single base substitution A G downstream_gene_variant BRCA-EU 3 129174363 129174363 single base substitution A G intron_variant BRCA-EU 3 129174959 129174959 single base substitution A T downstream_gene_variant BRCA-EU 3 129174959 129174959 single base substitution A T intron_variant BRCA-EU 3 129174959 129174959 single base substitution A T splice_region_variant BRCA-EU 3 129175759 129175759 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 129175759 129175759 deletion of <=200bp A - intron_variant BRCA-EU 3 129175759 129175759 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 129175793 129175793 single base substitution G A downstream_gene_variant BRCA-EU 3 129175793 129175793 single base substitution G A intron_variant BRCA-EU 3 129175793 129175793 single base substitution G A upstream_gene_variant BRCA-EU 3 129175822 129175822 single base substitution A G downstream_gene_variant BRCA-EU 3 129175822 129175822 single base substitution A G intron_variant BRCA-EU 3 129175822 129175822 single base substitution A G upstream_gene_variant BRCA-EU 3 129176414 129176414 single base substitution C T intron_variant BRCA-EU 3 129176414 129176414 single base substitution C T upstream_gene_variant BRCA-EU 3 129176472 129176472 single base substitution G T intron_variant BRCA-EU 3 129176472 129176472 single base substitution G T upstream_gene_variant BRCA-EU 3 129177521 129177521 single base substitution G A intron_variant BRCA-EU 3 129177521 129177521 single base substitution G A splice_donor_variant BRCA-EU 3 129177521 129177521 single base substitution G A upstream_gene_variant BRCA-EU 3 129177896 129177896 single base substitution A G intron_variant BRCA-EU 3 129177896 129177896 single base substitution A G upstream_gene_variant BRCA-EU 3 129179294 129179294 deletion of <=200bp T - intron_variant BRCA-EU 3 129179294 129179294 deletion of <=200bp T - upstream_gene_variant BRCA-EU 3 129179898 129179898 single base substitution G T intron_variant BRCA-EU 3 129179898 129179898 single base substitution G T upstream_gene_variant BRCA-EU 3 129180624 129180624 single base substitution C G downstream_gene_variant BRCA-EU 3 129180624 129180624 single base substitution C G intron_variant BRCA-EU 3 129180624 129180624 single base substitution C G upstream_gene_variant BRCA-EU 3 129181136 129181136 single base substitution G C downstream_gene_variant BRCA-EU 3 129181136 129181136 single base substitution G C intron_variant BRCA-EU 3 129181136 129181136 single base substitution G C upstream_gene_variant BRCA-EU 3 129182433 129182433 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 129182433 129182433 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 3 129182433 129182433 single base substitution C G downstream_gene_variant BRCA-EU 3 129182433 129182433 single base substitution C G exon_variant BRCA-EU 3 129182433 129182433 single base substitution C G intron_variant BRCA-EU 3 129182433 129182433 single base substitution C G missense_variant P87A 259C>G BRCA-EU 3 129182433 129182433 single base substitution C G missense_variant S113C 338C>G BRCA-EU 3 129182433 129182433 single base substitution C G missense_variant S127C 380C>G BRCA-EU 3 129182433 129182433 single base substitution C G missense_variant S178C 533C>G BRCA-EU 3 129182433 129182433 single base substitution C G missense_variant S61C 182C>G BRCA-EU 3 129182433 129182433 single base substitution C G missense_variant S75C 224C>G BRCA-EU 3 129182433 129182433 single base substitution C G missense_variant S78C 233C>G BRCA-EU 3 129182433 129182433 single base substitution C G missense_variant S80C 239C>G BRCA-EU 3 129182492 129182492 single base substitution G C downstream_gene_variant BRCA-EU 3 129182492 129182492 single base substitution G C intron_variant BRCA-EU 3 129184458 129184458 single base substitution T C downstream_gene_variant BRCA-EU 3 129184458 129184458 single base substitution T C intron_variant BRCA-EU 3 129187172 129187172 single base substitution C G downstream_gene_variant BRCA-EU 3 129187172 129187172 single base substitution C G intron_variant BRCA-EU 3 129187253 129187253 single base substitution C A downstream_gene_variant BRCA-EU 3 129187253 129187253 single base substitution C A intron_variant BRCA-EU 3 129187609 129187609 single base substitution C G downstream_gene_variant BRCA-EU 3 129187609 129187609 single base substitution C G intron_variant BRCA-EU 3 129187732 129187732 single base substitution C G downstream_gene_variant BRCA-EU 3 129187732 129187732 single base substitution C G intron_variant BRCA-EU 3 129187913 129187913 single base substitution C G downstream_gene_variant BRCA-EU 3 129187913 129187913 single base substitution C G intron_variant BRCA-EU 3 129188683 129188683 single base substitution A T intron_variant BRCA-EU 3 129190107 129190107 single base substitution C G intron_variant BRCA-EU 3 129190107 129190107 single base substitution C G upstream_gene_variant BRCA-EU 3 129190666 129190666 single base substitution G A intron_variant BRCA-EU 3 129190666 129190666 single base substitution G A upstream_gene_variant BRCA-EU 3 129192067 129192067 single base substitution G A intron_variant BRCA-EU 3 129192067 129192067 single base substitution G A upstream_gene_variant BRCA-EU 3 129192488 129192488 single base substitution C T intron_variant BRCA-EU 3 129192488 129192488 single base substitution C T upstream_gene_variant BRCA-EU 3 129192698 129192698 single base substitution G A intron_variant BRCA-EU 3 129192698 129192698 single base substitution G A upstream_gene_variant BRCA-EU 3 129195476 129195476 single base substitution C T downstream_gene_variant BRCA-EU 3 129195476 129195476 single base substitution C T intron_variant BRCA-EU 3 129195476 129195476 single base substitution C T upstream_gene_variant BRCA-EU 3 129197421 129197421 single base substitution G T downstream_gene_variant BRCA-EU 3 129197421 129197421 single base substitution G T intron_variant BRCA-EU 3 129197421 129197421 single base substitution G T upstream_gene_variant BRCA-EU 3 129198444 129198444 single base substitution C T downstream_gene_variant BRCA-EU 3 129198444 129198444 single base substitution C T intron_variant BRCA-EU 3 129198444 129198444 single base substitution C T upstream_gene_variant BRCA-EU 3 129198589 129198589 single base substitution T C downstream_gene_variant BRCA-EU 3 129198589 129198589 single base substitution T C intron_variant BRCA-EU 3 129198589 129198589 single base substitution T C upstream_gene_variant BRCA-EU 3 129200213 129200213 deletion of <=200bp C - downstream_gene_variant BRCA-EU 3 129200213 129200213 deletion of <=200bp C - intron_variant BRCA-EU 3 129200213 129200213 deletion of <=200bp C - upstream_gene_variant BRCA-EU 3 129200679 129200679 single base substitution C G downstream_gene_variant BRCA-EU 3 129200679 129200679 single base substitution C G intron_variant BRCA-EU 3 129201015 129201017 deletion of <=200bp CTT - downstream_gene_variant BRCA-EU 3 129201015 129201017 deletion of <=200bp CTT - intron_variant BRCA-EU 3 129203224 129203224 single base substitution A T downstream_gene_variant BRCA-EU 3 129203224 129203224 single base substitution A T intron_variant BRCA-EU 3 129203224 129203224 single base substitution A T upstream_gene_variant BRCA-EU 3 129203977 129203977 single base substitution G T downstream_gene_variant BRCA-EU 3 129203977 129203977 single base substitution G T intron_variant BRCA-EU 3 129203977 129203977 single base substitution G T upstream_gene_variant BRCA-EU 3 129204199 129204199 single base substitution C T downstream_gene_variant BRCA-EU 3 129204199 129204199 single base substitution C T intron_variant BRCA-EU 3 129204199 129204199 single base substitution C T upstream_gene_variant BRCA-EU 3 129204877 129204877 single base substitution A G downstream_gene_variant BRCA-EU 3 129204877 129204877 single base substitution A G intron_variant BRCA-EU 3 129204877 129204877 single base substitution A G upstream_gene_variant BRCA-EU 3 129205566 129205566 single base substitution C G downstream_gene_variant BRCA-EU 3 129205566 129205566 single base substitution C G intron_variant BRCA-EU 3 129205566 129205566 single base substitution C G upstream_gene_variant BRCA-EU 3 129206114 129206114 single base substitution C G downstream_gene_variant BRCA-EU 3 129206114 129206114 single base substitution C G intron_variant BRCA-EU 3 129206114 129206114 single base substitution C G upstream_gene_variant BRCA-EU 3 129206167 129206167 deletion of <=200bp G - downstream_gene_variant BRCA-EU 3 129206167 129206167 deletion of <=200bp G - intron_variant BRCA-EU 3 129206167 129206167 deletion of <=200bp G - upstream_gene_variant BRCA-EU 3 129206728 129206728 single base substitution G C downstream_gene_variant BRCA-EU 3 129206728 129206728 single base substitution G C exon_variant BRCA-EU 3 129206728 129206728 single base substitution G C intron_variant BRCA-EU 3 129206728 129206728 single base substitution G C upstream_gene_variant BRCA-EU 3 129206778 129206778 single base substitution C T downstream_gene_variant BRCA-EU 3 129206778 129206778 single base substitution C T intron_variant BRCA-EU 3 129206778 129206778 single base substitution C T upstream_gene_variant BRCA-EU 3 129206899 129206899 single base substitution A G downstream_gene_variant BRCA-EU 3 129206899 129206899 single base substitution A G intron_variant BRCA-EU 3 129206899 129206899 single base substitution A G upstream_gene_variant BRCA-EU 3 129206906 129206906 single base substitution T C downstream_gene_variant BRCA-EU 3 129206906 129206906 single base substitution T C intron_variant BRCA-EU 3 129206906 129206906 single base substitution T C upstream_gene_variant BRCA-EU 3 129206925 129206925 single base substitution T C downstream_gene_variant BRCA-EU 3 129206925 129206925 single base substitution T C intron_variant BRCA-EU 3 129206925 129206925 single base substitution T C upstream_gene_variant BRCA-EU 3 129207888 129207888 single base substitution C G intron_variant BRCA-EU 3 129208219 129208219 single base substitution C G intron_variant BRCA-EU 3 129209147 129209147 single base substitution C T intron_variant BRCA-EU 3 129209312 129209312 single base substitution G A intron_variant BRCA-EU 3 129209312 129209312 single base substitution G A upstream_gene_variant BRCA-EU 3 129210280 129210280 single base substitution G C intron_variant BRCA-EU 3 129210280 129210280 single base substitution G C upstream_gene_variant BRCA-EU 3 129213288 129213288 single base substitution G A intron_variant BRCA-EU 3 129213288 129213288 single base substitution G A upstream_gene_variant BRCA-EU 3 129213370 129213370 single base substitution T C intron_variant BRCA-EU 3 129213370 129213370 single base substitution T C upstream_gene_variant BRCA-EU 3 129213830 129213830 single base substitution G C intron_variant BRCA-EU 3 129213830 129213830 single base substitution G C upstream_gene_variant BRCA-EU 3 129213830 129213830 single base substitution G T intron_variant BRCA-EU 3 129213830 129213830 single base substitution G T upstream_gene_variant BRCA-EU 3 129214096 129214096 single base substitution G A intron_variant BRCA-EU 3 129214096 129214096 single base substitution G A upstream_gene_variant BRCA-EU 3 129216329 129216329 single base substitution G A downstream_gene_variant BRCA-EU 3 129216329 129216329 single base substitution G A intron_variant BRCA-EU 3 129217159 129217159 single base substitution C A downstream_gene_variant BRCA-EU 3 129217159 129217159 single base substitution C A intron_variant BRCA-EU 3 129217438 129217438 single base substitution C T downstream_gene_variant BRCA-EU 3 129217438 129217438 single base substitution C T intron_variant BRCA-EU 3 129217599 129217599 single base substitution C T downstream_gene_variant BRCA-EU 3 129217599 129217599 single base substitution C T intron_variant BRCA-EU 3 129218869 129218869 single base substitution T G 3_prime_UTR_variant BRCA-EU 3 129218869 129218869 single base substitution T G downstream_gene_variant BRCA-EU 3 129218869 129218869 single base substitution T G exon_variant BRCA-EU 3 129218869 129218869 single base substitution T G missense_variant V140G 419T>G BRCA-EU 3 129218869 129218869 single base substitution T G missense_variant V275G 824T>G BRCA-EU 3 129218869 129218869 single base substitution T G missense_variant V569G 1706T>G BRCA-EU 3 129218869 129218869 single base substitution T G missense_variant V628G 1883T>G BRCA-EU 3 129218869 129218869 single base substitution T G missense_variant V654G 1961T>G BRCA-EU 3 129218869 129218869 single base substitution T G missense_variant V667G 2000T>G BRCA-EU 3 129218869 129218869 single base substitution T G missense_variant V719G 2156T>G BRCA-EU 3 129218869 129218869 single base substitution T G missense_variant V770G 2309T>G BRCA-EU 3 129218869 129218869 single base substitution T G missense_variant V778G 2333T>G BRCA-EU 3 129218869 129218869 single base substitution T G missense_variant V829G 2486T>G BRCA-EU 3 129219309 129219309 single base substitution G C downstream_gene_variant BRCA-EU 3 129219309 129219309 single base substitution G C intron_variant BRCA-EU 3 129219503 129219503 single base substitution G C intron_variant BRCA-EU 3 129220706 129220706 single base substitution G A intron_variant BRCA-EU 3 129221415 129221415 single base substitution C T intron_variant BRCA-EU 3 129221622 129221622 single base substitution T G 3_prime_UTR_variant BRCA-EU 3 129221622 129221622 single base substitution T G downstream_gene_variant BRCA-EU 3 129221622 129221622 single base substitution T G exon_variant BRCA-EU 3 129221622 129221622 single base substitution T G missense_variant L312R 935T>G BRCA-EU 3 129221622 129221622 single base substitution T G missense_variant L606R 1817T>G BRCA-EU 3 129221622 129221622 single base substitution T G missense_variant L665R 1994T>G BRCA-EU 3 129221622 129221622 single base substitution T G missense_variant L691R 2072T>G BRCA-EU 3 129221622 129221622 single base substitution T G missense_variant L704R 2111T>G BRCA-EU 3 129221622 129221622 single base substitution T G missense_variant L756R 2267T>G BRCA-EU 3 129221622 129221622 single base substitution T G missense_variant L807R 2420T>G BRCA-EU 3 129221622 129221622 single base substitution T G missense_variant L815R 2444T>G BRCA-EU 3 129221622 129221622 single base substitution T G missense_variant L866R 2597T>G BRCA-EU 3 129222207 129222207 single base substitution C G downstream_gene_variant BRCA-EU 3 129222207 129222207 single base substitution C G intron_variant BRCA-EU 3 129223177 129223177 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 129223177 129223177 single base substitution G A downstream_gene_variant BRCA-EU 3 129223177 129223177 single base substitution G A exon_variant BRCA-EU 3 129223177 129223177 single base substitution G A missense_variant E352K 1054G>A BRCA-EU 3 129223177 129223177 single base substitution G A missense_variant E646K 1936G>A BRCA-EU 3 129223177 129223177 single base substitution G A missense_variant E705K 2113G>A BRCA-EU 3 129223177 129223177 single base substitution G A missense_variant E731K 2191G>A BRCA-EU 3 129223177 129223177 single base substitution G A missense_variant E744K 2230G>A BRCA-EU 3 129223177 129223177 single base substitution G A missense_variant E796K 2386G>A BRCA-EU 3 129223177 129223177 single base substitution G A missense_variant E847K 2539G>A BRCA-EU 3 129223177 129223177 single base substitution G A missense_variant E855K 2563G>A BRCA-EU 3 129223177 129223177 single base substitution G A missense_variant E906K 2716G>A BRCA-EU 3 129225974 129225974 single base substitution C G downstream_gene_variant BRCA-EU 3 129225974 129225974 single base substitution C G intron_variant BRCA-EU 3 129226204 129226204 single base substitution G A downstream_gene_variant BRCA-EU 3 129226204 129226204 single base substitution G A intron_variant BRCA-EU 3 129226204 129226204 single base substitution G A upstream_gene_variant BRCA-EU 3 129227743 129227743 single base substitution C T downstream_gene_variant BRCA-EU 3 129227743 129227743 single base substitution C T intron_variant BRCA-EU 3 129227743 129227743 single base substitution C T upstream_gene_variant BRCA-EU 3 129229538 129229538 single base substitution C G intron_variant BRCA-EU 3 129229538 129229538 single base substitution C G upstream_gene_variant BRCA-EU 3 129230774 129230774 single base substitution G C intron_variant BRCA-EU 3 129230774 129230774 single base substitution G C upstream_gene_variant BRCA-EU 3 129230892 129230892 single base substitution T G intron_variant BRCA-EU 3 129230892 129230892 single base substitution T G upstream_gene_variant BRCA-EU 3 129231410 129231410 single base substitution G A exon_variant BRCA-EU 3 129231410 129231410 single base substitution G A intron_variant BRCA-EU 3 129233999 129233999 single base substitution C T downstream_gene_variant BRCA-EU 3 129233999 129233999 single base substitution C T exon_variant BRCA-EU 3 129233999 129233999 single base substitution C T intron_variant BRCA-EU 3 129234441 129234441 single base substitution C T downstream_gene_variant BRCA-EU 3 129234441 129234441 single base substitution C T splice_region_variant BRCA-EU 3 129235597 129235597 single base substitution C G downstream_gene_variant BRCA-EU 3 129235597 129235597 single base substitution C G intron_variant BRCA-EU 3 129236511 129236511 single base substitution G A downstream_gene_variant BRCA-EU 3 129236511 129236511 single base substitution G A intron_variant BRCA-EU 3 129237487 129237487 single base substitution G C downstream_gene_variant BRCA-EU 3 129237487 129237487 single base substitution G C intron_variant BRCA-EU 3 129237590 129237590 single base substitution C T downstream_gene_variant BRCA-EU 3 129237590 129237590 single base substitution C T intron_variant BRCA-EU 3 129238316 129238316 single base substitution C T downstream_gene_variant BRCA-EU 3 129238316 129238316 single base substitution C T intron_variant BRCA-EU 3 129238941 129238941 single base substitution G C intron_variant BRCA-EU 3 129239094 129239094 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 129239094 129239094 single base substitution G A exon_variant BRCA-EU 3 129239094 129239094 single base substitution G A missense_variant D1029N 3085G>A BRCA-EU 3 129239094 129239094 single base substitution G A missense_variant D1088N 3262G>A BRCA-EU 3 129239094 129239094 single base substitution G A missense_variant D1115N 3343G>A BRCA-EU 3 129239094 129239094 single base substitution G A missense_variant D1128N 3382G>A BRCA-EU 3 129239094 129239094 single base substitution G A missense_variant D1179N 3535G>A BRCA-EU 3 129239094 129239094 single base substitution G A missense_variant D1231N 3691G>A BRCA-EU 3 129239094 129239094 single base substitution G A missense_variant D1238N 3712G>A BRCA-EU 3 129239094 129239094 single base substitution G A missense_variant D1289N 3865G>A BRCA-EU 3 129239671 129239671 single base substitution G C downstream_gene_variant BRCA-EU 3 129240294 129240294 single base substitution A T downstream_gene_variant BRCA-EU 3 129241431 129241431 single base substitution C G downstream_gene_variant BRCA-EU 3 129242898 129242898 single base substitution G T downstream_gene_variant BRCA-EU 3 129242899 129242899 single base substitution G T downstream_gene_variant BRCA-FR 3 129166540 129166540 single base substitution G C intron_variant BRCA-FR 3 129166540 129166540 single base substitution G C upstream_gene_variant BRCA-FR 3 129167527 129167527 single base substitution T C intron_variant BRCA-FR 3 129167527 129167527 single base substitution T C upstream_gene_variant BRCA-FR 3 129172180 129172180 single base substitution G A downstream_gene_variant BRCA-FR 3 129172180 129172180 single base substitution G A intron_variant BRCA-FR 3 129192067 129192067 single base substitution G A intron_variant BRCA-FR 3 129192067 129192067 single base substitution G A upstream_gene_variant BRCA-FR 3 129196772 129196772 single base substitution G A downstream_gene_variant BRCA-FR 3 129196772 129196772 single base substitution G A intron_variant BRCA-FR 3 129196772 129196772 single base substitution G A upstream_gene_variant BRCA-FR 3 129203977 129203977 single base substitution G T downstream_gene_variant BRCA-FR 3 129203977 129203977 single base substitution G T intron_variant BRCA-FR 3 129203977 129203977 single base substitution G T upstream_gene_variant BRCA-FR 3 129206925 129206925 single base substitution T C downstream_gene_variant BRCA-FR 3 129206925 129206925 single base substitution T C intron_variant BRCA-FR 3 129206925 129206925 single base substitution T C upstream_gene_variant BRCA-FR 3 129206968 129206968 single base substitution T C downstream_gene_variant BRCA-FR 3 129206968 129206968 single base substitution T C intron_variant BRCA-FR 3 129206968 129206968 single base substitution T C upstream_gene_variant BRCA-FR 3 129206971 129206971 single base substitution G A downstream_gene_variant BRCA-FR 3 129206971 129206971 single base substitution G A intron_variant BRCA-FR 3 129206971 129206971 single base substitution G A upstream_gene_variant BRCA-FR 3 129208745 129208745 single base substitution C T intron_variant BRCA-FR 3 129209312 129209312 single base substitution G A intron_variant BRCA-FR 3 129209312 129209312 single base substitution G A upstream_gene_variant BRCA-FR 3 129231410 129231410 single base substitution G A exon_variant BRCA-FR 3 129231410 129231410 single base substitution G A intron_variant BRCA-FR 3 129234441 129234441 single base substitution C T downstream_gene_variant BRCA-FR 3 129234441 129234441 single base substitution C T splice_region_variant BRCA-FR 3 129238316 129238316 single base substitution C T downstream_gene_variant BRCA-FR 3 129238316 129238316 single base substitution C T intron_variant BRCA-FR 3 129240539 129240539 single base substitution G A downstream_gene_variant BRCA-KR 3 129156626 129156626 single base substitution T C upstream_gene_variant BRCA-UK 3 129156658 129156658 single base substitution T C upstream_gene_variant BRCA-UK 3 129179898 129179898 single base substitution G T intron_variant BRCA-UK 3 129179898 129179898 single base substitution G T upstream_gene_variant BRCA-UK 3 129192698 129192698 single base substitution G A intron_variant BRCA-UK 3 129192698 129192698 single base substitution G A upstream_gene_variant BRCA-UK 3 129193548 129193548 single base substitution G A intron_variant BRCA-UK 3 129193548 129193548 single base substitution G A upstream_gene_variant BRCA-UK 3 129223177 129223177 single base substitution G A 3_prime_UTR_variant BRCA-UK 3 129223177 129223177 single base substitution G A downstream_gene_variant BRCA-UK 3 129223177 129223177 single base substitution G A exon_variant BRCA-UK 3 129223177 129223177 single base substitution G A missense_variant E352K 1054G>A BRCA-UK 3 129223177 129223177 single base substitution G A missense_variant E646K 1936G>A BRCA-UK 3 129223177 129223177 single base substitution G A missense_variant E705K 2113G>A BRCA-UK 3 129223177 129223177 single base substitution G A missense_variant E731K 2191G>A BRCA-UK 3 129223177 129223177 single base substitution G A missense_variant E744K 2230G>A BRCA-UK 3 129223177 129223177 single base substitution G A missense_variant E796K 2386G>A BRCA-UK 3 129223177 129223177 single base substitution G A missense_variant E847K 2539G>A BRCA-UK 3 129223177 129223177 single base substitution G A missense_variant E855K 2563G>A BRCA-UK 3 129223177 129223177 single base substitution G A missense_variant E906K 2716G>A BRCA-US 3 129155812 129155812 single base substitution G A upstream_gene_variant BRCA-US 3 129158619 129158619 single base substitution C T upstream_gene_variant BRCA-US 3 129180117 129180117 single base substitution C T 3_prime_UTR_variant BRCA-US 3 129180117 129180117 single base substitution C T 5_prime_UTR_variant BRCA-US 3 129180117 129180117 single base substitution C T exon_variant BRCA-US 3 129180117 129180117 single base substitution C T intron_variant BRCA-US 3 129180117 129180117 single base substitution C T stop_gained Q107* 319C>T BRCA-US 3 129180117 129180117 single base substitution C T stop_gained Q158* 472C>T BRCA-US 3 129180117 129180117 single base substitution C T stop_gained Q58* 172C>T BRCA-US 3 129180117 129180117 single base substitution C T stop_gained Q93* 277C>T BRCA-US 3 129180117 129180117 single base substitution C T synonymous_variant I66I 198C>T BRCA-US 3 129180117 129180117 single base substitution C T upstream_gene_variant BRCA-US 3 129183529 129183529 single base substitution C A 3_prime_UTR_variant BRCA-US 3 129183529 129183529 single base substitution C A downstream_gene_variant BRCA-US 3 129183529 129183529 single base substitution C A exon_variant BRCA-US 3 129183529 129183529 single base substitution C A intron_variant BRCA-US 3 129183529 129183529 single base substitution C A synonymous_variant I104I 312C>A BRCA-US 3 129183529 129183529 single base substitution C A synonymous_variant I107I 321C>A BRCA-US 3 129183529 129183529 single base substitution C A synonymous_variant I109I 327C>A BRCA-US 3 129183529 129183529 single base substitution C A synonymous_variant I156I 468C>A BRCA-US 3 129183529 129183529 single base substitution C A synonymous_variant I207I 621C>A BRCA-US 3 129183529 129183529 single base substitution C A synonymous_variant I6I 18C>A BRCA-US 3 129185735 129185735 single base substitution G A downstream_gene_variant BRCA-US 3 129185735 129185735 single base substitution G A intron_variant BRCA-US 3 129185735 129185735 single base substitution G A missense_variant R189Q 566G>A BRCA-US 3 129185735 129185735 single base substitution G A missense_variant R240Q 719G>A BRCA-US 3 129185735 129185735 single base substitution G A missense_variant R39Q 116G>A BRCA-US 3 129185735 129185735 single base substitution G A splice_region_variant BRCA-US 3 129195606 129195606 single base substitution C G 3_prime_UTR_variant BRCA-US 3 129195606 129195606 single base substitution C G downstream_gene_variant BRCA-US 3 129195606 129195606 single base substitution C G exon_variant BRCA-US 3 129195606 129195606 single base substitution C G missense_variant T161S 482C>G BRCA-US 3 129195606 129195606 single base substitution C G missense_variant T196S 587C>G BRCA-US 3 129195606 129195606 single base substitution C G missense_variant T220S 659C>G BRCA-US 3 129195606 129195606 single base substitution C G missense_variant T259S 776C>G BRCA-US 3 129195606 129195606 single base substitution C G missense_variant T264S 791C>G BRCA-US 3 129195606 129195606 single base substitution C G missense_variant T311S 932C>G BRCA-US 3 129195606 129195606 single base substitution C G missense_variant T362S 1085C>G BRCA-US 3 129195606 129195606 single base substitution C G missense_variant T370S 1109C>G BRCA-US 3 129195606 129195606 single base substitution C G missense_variant T421S 1262C>G BRCA-US 3 129195606 129195606 single base substitution C G upstream_gene_variant BRCA-US 3 129200411 129200411 single base substitution C G 3_prime_UTR_variant BRCA-US 3 129200411 129200411 single base substitution C G downstream_gene_variant BRCA-US 3 129200411 129200411 single base substitution C G exon_variant BRCA-US 3 129200411 129200411 single base substitution C G synonymous_variant V24V 72C>G BRCA-US 3 129200411 129200411 single base substitution C G synonymous_variant V300V 900C>G BRCA-US 3 129200411 129200411 single base substitution C G synonymous_variant V359V 1077C>G BRCA-US 3 129200411 129200411 single base substitution C G synonymous_variant V398V 1194C>G BRCA-US 3 129200411 129200411 single base substitution C G synonymous_variant V403V 1209C>G BRCA-US 3 129200411 129200411 single base substitution C G synonymous_variant V450V 1350C>G BRCA-US 3 129200411 129200411 single base substitution C G synonymous_variant V501V 1503C>G BRCA-US 3 129200411 129200411 single base substitution C G synonymous_variant V509V 1527C>G BRCA-US 3 129200411 129200411 single base substitution C G synonymous_variant V560V 1680C>G BRCA-US 3 129207141 129207141 deletion of <=200bp G - 3_prime_UTR_variant BRCA-US 3 129207141 129207141 deletion of <=200bp G - downstream_gene_variant BRCA-US 3 129207141 129207141 deletion of <=200bp G - exon_variant BRCA-US 3 129207141 129207141 deletion of <=200bp G - frameshift_variant K11 BRCA-US 3 129207141 129207141 deletion of <=200bp G - frameshift_variant K146 BRCA-US 3 129207141 129207141 deletion of <=200bp G - frameshift_variant K422 BRCA-US 3 129207141 129207141 deletion of <=200bp G - frameshift_variant K481 BRCA-US 3 129207141 129207141 deletion of <=200bp G - frameshift_variant K520 BRCA-US 3 129207141 129207141 deletion of <=200bp G - frameshift_variant K525 BRCA-US 3 129207141 129207141 deletion of <=200bp G - frameshift_variant K572 BRCA-US 3 129207141 129207141 deletion of <=200bp G - frameshift_variant K623 BRCA-US 3 129207141 129207141 deletion of <=200bp G - frameshift_variant K631 BRCA-US 3 129207141 129207141 deletion of <=200bp G - frameshift_variant K682 BRCA-US 3 129207207 129207207 single base substitution G A 3_prime_UTR_variant BRCA-US 3 129207207 129207207 single base substitution G A downstream_gene_variant BRCA-US 3 129207207 129207207 single base substitution G A exon_variant BRCA-US 3 129207207 129207207 single base substitution G A synonymous_variant A168A 504G>A BRCA-US 3 129207207 129207207 single base substitution G A synonymous_variant A33A 99G>A BRCA-US 3 129207207 129207207 single base substitution G A synonymous_variant A444A 1332G>A BRCA-US 3 129207207 129207207 single base substitution G A synonymous_variant A503A 1509G>A BRCA-US 3 129207207 129207207 single base substitution G A synonymous_variant A542A 1626G>A BRCA-US 3 129207207 129207207 single base substitution G A synonymous_variant A547A 1641G>A BRCA-US 3 129207207 129207207 single base substitution G A synonymous_variant A594A 1782G>A BRCA-US 3 129207207 129207207 single base substitution G A synonymous_variant A645A 1935G>A BRCA-US 3 129207207 129207207 single base substitution G A synonymous_variant A653A 1959G>A BRCA-US 3 129207207 129207207 single base substitution G A synonymous_variant A704A 2112G>A BRCA-US 3 129225273 129225274 deletion of <=200bp AG - 3_prime_UTR_variant BRCA-US 3 129225273 129225274 deletion of <=200bp AG - downstream_gene_variant BRCA-US 3 129225273 129225274 deletion of <=200bp AG - exon_variant BRCA-US 3 129225273 129225274 deletion of <=200bp AG - frameshift_variant Q682 BRCA-US 3 129225273 129225274 deletion of <=200bp AG - frameshift_variant Q741 BRCA-US 3 129225273 129225274 deletion of <=200bp AG - frameshift_variant Q767 BRCA-US 3 129225273 129225274 deletion of <=200bp AG - frameshift_variant Q780 BRCA-US 3 129225273 129225274 deletion of <=200bp AG - frameshift_variant Q832 BRCA-US 3 129225273 129225274 deletion of <=200bp AG - frameshift_variant Q883 BRCA-US 3 129225273 129225274 deletion of <=200bp AG - frameshift_variant Q891 BRCA-US 3 129225273 129225274 deletion of <=200bp AG - frameshift_variant Q942 BRCA-US 3 129225321 129225321 single base substitution C G 3_prime_UTR_variant BRCA-US 3 129225321 129225321 single base substitution C G downstream_gene_variant BRCA-US 3 129225321 129225321 single base substitution C G exon_variant BRCA-US 3 129225321 129225321 single base substitution C G missense_variant A698G 2093C>G BRCA-US 3 129225321 129225321 single base substitution C G missense_variant A757G 2270C>G BRCA-US 3 129225321 129225321 single base substitution C G missense_variant A783G 2348C>G BRCA-US 3 129225321 129225321 single base substitution C G missense_variant A796G 2387C>G BRCA-US 3 129225321 129225321 single base substitution C G missense_variant A848G 2543C>G BRCA-US 3 129225321 129225321 single base substitution C G missense_variant A899G 2696C>G BRCA-US 3 129225321 129225321 single base substitution C G missense_variant A907G 2720C>G BRCA-US 3 129225321 129225321 single base substitution C G missense_variant A958G 2873C>G BRCA-US 3 129237961 129237961 single base substitution C A 3_prime_UTR_variant BRCA-US 3 129237961 129237961 single base substitution C A downstream_gene_variant BRCA-US 3 129237961 129237961 single base substitution C A exon_variant BRCA-US 3 129237961 129237961 single base substitution C A missense_variant L1012M 3034C>A BRCA-US 3 129237961 129237961 single base substitution C A missense_variant L1025M 3073C>A BRCA-US 3 129237961 129237961 single base substitution C A missense_variant L1076M 3226C>A BRCA-US 3 129237961 129237961 single base substitution C A missense_variant L1128M 3382C>A BRCA-US 3 129237961 129237961 single base substitution C A missense_variant L1135M 3403C>A BRCA-US 3 129237961 129237961 single base substitution C A missense_variant L1186M 3556C>A BRCA-US 3 129237961 129237961 single base substitution C A missense_variant L926M 2776C>A BRCA-US 3 129237961 129237961 single base substitution C A missense_variant L985M 2953C>A BTCA-JP 3 129155346 129155346 single base substitution C T upstream_gene_variant BTCA-JP 3 129155400 129155400 single base substitution C G upstream_gene_variant BTCA-JP 3 129177448 129177448 single base substitution G A 3_prime_UTR_variant BTCA-JP 3 129177448 129177448 single base substitution G A 5_prime_UTR_variant BTCA-JP 3 129177448 129177448 single base substitution G A exon_variant BTCA-JP 3 129177448 129177448 single base substitution G A intron_variant BTCA-JP 3 129177448 129177448 single base substitution G A missense_variant R53H 158G>A BTCA-JP 3 129177448 129177448 single base substitution G A missense_variant R67H 200G>A BTCA-JP 3 129177448 129177448 single base substitution G A upstream_gene_variant BTCA-JP 3 129179709 129179709 single base substitution G C intron_variant BTCA-JP 3 129179709 129179709 single base substitution G C synonymous_variant V95V 285G>C BTCA-JP 3 129179709 129179709 single base substitution G C upstream_gene_variant BTCA-JP 3 129198781 129198781 single base substitution C T downstream_gene_variant BTCA-JP 3 129198781 129198781 single base substitution C T intron_variant BTCA-JP 3 129198781 129198781 single base substitution C T upstream_gene_variant BTCA-JP 3 129206925 129206925 single base substitution T C downstream_gene_variant BTCA-JP 3 129206925 129206925 single base substitution T C intron_variant BTCA-JP 3 129206925 129206925 single base substitution T C upstream_gene_variant BTCA-JP 3 129221591 129221591 single base substitution C T 3_prime_UTR_variant BTCA-JP 3 129221591 129221591 single base substitution C T exon_variant BTCA-JP 3 129221591 129221591 single base substitution C T missense_variant R167C 499C>T BTCA-JP 3 129221591 129221591 single base substitution C T missense_variant R302C 904C>T BTCA-JP 3 129221591 129221591 single base substitution C T missense_variant R596C 1786C>T BTCA-JP 3 129221591 129221591 single base substitution C T missense_variant R655C 1963C>T BTCA-JP 3 129221591 129221591 single base substitution C T missense_variant R681C 2041C>T BTCA-JP 3 129221591 129221591 single base substitution C T missense_variant R694C 2080C>T BTCA-JP 3 129221591 129221591 single base substitution C T missense_variant R746C 2236C>T BTCA-JP 3 129221591 129221591 single base substitution C T missense_variant R797C 2389C>T BTCA-JP 3 129221591 129221591 single base substitution C T missense_variant R805C 2413C>T BTCA-JP 3 129221591 129221591 single base substitution C T missense_variant R856C 2566C>T BTCA-JP 3 129226497 129226497 single base substitution G A downstream_gene_variant BTCA-JP 3 129226497 129226497 single base substitution G A intron_variant BTCA-JP 3 129226497 129226497 single base substitution G A upstream_gene_variant BTCA-JP 3 129231433 129231433 single base substitution G C exon_variant BTCA-JP 3 129231433 129231433 single base substitution G C intron_variant BTCA-JP 3 129239160 129239160 single base substitution G A 3_prime_UTR_variant BTCA-JP 3 129239160 129239160 single base substitution G A downstream_gene_variant BTCA-JP 3 129239160 129239160 single base substitution G A exon_variant CESC-US 3 129155555 129155555 single base substitution T G upstream_gene_variant CESC-US 3 129200465 129200465 single base substitution G C 3_prime_UTR_variant CESC-US 3 129200465 129200465 single base substitution G C downstream_gene_variant CESC-US 3 129200465 129200465 single base substitution G C exon_variant CESC-US 3 129200465 129200465 single base substitution G C missense_variant K318N 954G>C CESC-US 3 129200465 129200465 single base substitution G C missense_variant K377N 1131G>C CESC-US 3 129200465 129200465 single base substitution G C missense_variant K416N 1248G>C CESC-US 3 129200465 129200465 single base substitution G C missense_variant K421N 1263G>C CESC-US 3 129200465 129200465 single base substitution G C missense_variant K42N 126G>C CESC-US 3 129200465 129200465 single base substitution G C missense_variant K468N 1404G>C CESC-US 3 129200465 129200465 single base substitution G C missense_variant K519N 1557G>C CESC-US 3 129200465 129200465 single base substitution G C missense_variant K527N 1581G>C CESC-US 3 129200465 129200465 single base substitution G C missense_variant K578N 1734G>C CESC-US 3 129200485 129200485 single base substitution A T 3_prime_UTR_variant CESC-US 3 129200485 129200485 single base substitution A T downstream_gene_variant CESC-US 3 129200485 129200485 single base substitution A T exon_variant CESC-US 3 129200485 129200485 single base substitution A T missense_variant E325V 974A>T CESC-US 3 129200485 129200485 single base substitution A T missense_variant E384V 1151A>T CESC-US 3 129200485 129200485 single base substitution A T missense_variant E423V 1268A>T CESC-US 3 129200485 129200485 single base substitution A T missense_variant E428V 1283A>T CESC-US 3 129200485 129200485 single base substitution A T missense_variant E475V 1424A>T CESC-US 3 129200485 129200485 single base substitution A T missense_variant E49V 146A>T CESC-US 3 129200485 129200485 single base substitution A T missense_variant E526V 1577A>T CESC-US 3 129200485 129200485 single base substitution A T missense_variant E534V 1601A>T CESC-US 3 129200485 129200485 single base substitution A T missense_variant E585V 1754A>T CESC-US 3 129234393 129234393 single base substitution C T 3_prime_UTR_variant CESC-US 3 129234393 129234393 single base substitution C T downstream_gene_variant CESC-US 3 129234393 129234393 single base substitution C T exon_variant CESC-US 3 129234393 129234393 single base substitution C T synonymous_variant N1013N 3039C>T CESC-US 3 129234393 129234393 single base substitution C T synonymous_variant N1065N 3195C>T CESC-US 3 129234393 129234393 single base substitution C T synonymous_variant N1072N 3216C>T CESC-US 3 129234393 129234393 single base substitution C T synonymous_variant N1123N 3369C>T CESC-US 3 129234393 129234393 single base substitution C T synonymous_variant N863N 2589C>T CESC-US 3 129234393 129234393 single base substitution C T synonymous_variant N922N 2766C>T CESC-US 3 129234393 129234393 single base substitution C T synonymous_variant N949N 2847C>T CESC-US 3 129234393 129234393 single base substitution C T synonymous_variant N962N 2886C>T CESC-US 3 129236334 129236334 single base substitution C T 3_prime_UTR_variant CESC-US 3 129236334 129236334 single base substitution C T downstream_gene_variant CESC-US 3 129236334 129236334 single base substitution C T exon_variant CESC-US 3 129236334 129236334 single base substitution C T synonymous_variant F1037F 3111C>T CESC-US 3 129236334 129236334 single base substitution C T synonymous_variant F1089F 3267C>T CESC-US 3 129236334 129236334 single base substitution C T synonymous_variant F1096F 3288C>T CESC-US 3 129236334 129236334 single base substitution C T synonymous_variant F1147F 3441C>T CESC-US 3 129236334 129236334 single base substitution C T synonymous_variant F887F 2661C>T CESC-US 3 129236334 129236334 single base substitution C T synonymous_variant F946F 2838C>T CESC-US 3 129236334 129236334 single base substitution C T synonymous_variant F973F 2919C>T CESC-US 3 129236334 129236334 single base substitution C T synonymous_variant F986F 2958C>T CLLE-ES 3 129156464 129156464 single base substitution T A upstream_gene_variant CLLE-ES 3 129162238 129162238 single base substitution T G intron_variant CLLE-ES 3 129168889 129168889 single base substitution T G intron_variant CLLE-ES 3 129231718 129231718 single base substitution G T exon_variant CLLE-ES 3 129231718 129231718 single base substitution G T intron_variant CLLE-ES 3 129232802 129232802 single base substitution G A exon_variant CLLE-ES 3 129232802 129232802 single base substitution G A intron_variant COAD-US 3 129155670 129155670 single base substitution C T upstream_gene_variant COAD-US 3 129156748 129156748 single base substitution C A upstream_gene_variant COAD-US 3 129159181 129159181 single base substitution C T 5_prime_UTR_variant COAD-US 3 129159181 129159181 single base substitution C T exon_variant COAD-US 3 129159181 129159181 single base substitution C T missense_variant A3V 8C>T COAD-US 3 129177485 129177485 single base substitution C G 3_prime_UTR_variant COAD-US 3 129177485 129177485 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant COAD-US 3 129177485 129177485 single base substitution C G exon_variant COAD-US 3 129177485 129177485 single base substitution C G intron_variant COAD-US 3 129177485 129177485 single base substitution C G missense_variant I65M 195C>G COAD-US 3 129177485 129177485 single base substitution C G missense_variant I79M 237C>G COAD-US 3 129177485 129177485 single base substitution C G upstream_gene_variant COAD-US 3 129195610 129195610 single base substitution C T 3_prime_UTR_variant COAD-US 3 129195610 129195610 single base substitution C T downstream_gene_variant COAD-US 3 129195610 129195610 single base substitution C T exon_variant COAD-US 3 129195610 129195610 single base substitution C T synonymous_variant D162D 486C>T COAD-US 3 129195610 129195610 single base substitution C T synonymous_variant D197D 591C>T COAD-US 3 129195610 129195610 single base substitution C T synonymous_variant D221D 663C>T COAD-US 3 129195610 129195610 single base substitution C T synonymous_variant D260D 780C>T COAD-US 3 129195610 129195610 single base substitution C T synonymous_variant D265D 795C>T COAD-US 3 129195610 129195610 single base substitution C T synonymous_variant D312D 936C>T COAD-US 3 129195610 129195610 single base substitution C T synonymous_variant D363D 1089C>T COAD-US 3 129195610 129195610 single base substitution C T synonymous_variant D371D 1113C>T COAD-US 3 129195610 129195610 single base substitution C T synonymous_variant D422D 1266C>T COAD-US 3 129195610 129195610 single base substitution C T upstream_gene_variant COAD-US 3 129207187 129207187 single base substitution C T 3_prime_UTR_variant COAD-US 3 129207187 129207187 single base substitution C T downstream_gene_variant COAD-US 3 129207187 129207187 single base substitution C T exon_variant COAD-US 3 129207187 129207187 single base substitution C T missense_variant R162C 484C>T COAD-US 3 129207187 129207187 single base substitution C T missense_variant R27C 79C>T COAD-US 3 129207187 129207187 single base substitution C T missense_variant R438C 1312C>T COAD-US 3 129207187 129207187 single base substitution C T missense_variant R497C 1489C>T COAD-US 3 129207187 129207187 single base substitution C T missense_variant R536C 1606C>T COAD-US 3 129207187 129207187 single base substitution C T missense_variant R541C 1621C>T COAD-US 3 129207187 129207187 single base substitution C T missense_variant R588C 1762C>T COAD-US 3 129207187 129207187 single base substitution C T missense_variant R639C 1915C>T COAD-US 3 129207187 129207187 single base substitution C T missense_variant R647C 1939C>T COAD-US 3 129207187 129207187 single base substitution C T missense_variant R698C 2092C>T COAD-US 3 129214302 129214302 single base substitution G A 3_prime_UTR_variant COAD-US 3 129214302 129214302 single base substitution G A exon_variant COAD-US 3 129214302 129214302 single base substitution G A intron_variant COAD-US 3 129214302 129214302 single base substitution G A missense_variant R184Q 551G>A COAD-US 3 129214302 129214302 single base substitution G A missense_variant R478Q 1433G>A COAD-US 3 129214302 129214302 single base substitution G A missense_variant R49Q 146G>A COAD-US 3 129214302 129214302 single base substitution G A missense_variant R537Q 1610G>A COAD-US 3 129214302 129214302 single base substitution G A missense_variant R563Q 1688G>A COAD-US 3 129214302 129214302 single base substitution G A missense_variant R576Q 1727G>A COAD-US 3 129214302 129214302 single base substitution G A missense_variant R628Q 1883G>A COAD-US 3 129214302 129214302 single base substitution G A missense_variant R679Q 2036G>A COAD-US 3 129214302 129214302 single base substitution G A missense_variant R687Q 2060G>A COAD-US 3 129214302 129214302 single base substitution G A missense_variant R738Q 2213G>A COAD-US 3 129214358 129214358 single base substitution T C 3_prime_UTR_variant COAD-US 3 129214358 129214358 single base substitution T C downstream_gene_variant COAD-US 3 129214358 129214358 single base substitution T C exon_variant COAD-US 3 129214358 129214358 single base substitution T C intron_variant COAD-US 3 129214358 129214358 single base substitution T C missense_variant F203L 607T>C COAD-US 3 129214358 129214358 single base substitution T C missense_variant F497L 1489T>C COAD-US 3 129214358 129214358 single base substitution T C missense_variant F556L 1666T>C COAD-US 3 129214358 129214358 single base substitution T C missense_variant F582L 1744T>C COAD-US 3 129214358 129214358 single base substitution T C missense_variant F595L 1783T>C COAD-US 3 129214358 129214358 single base substitution T C missense_variant F647L 1939T>C COAD-US 3 129214358 129214358 single base substitution T C missense_variant F68L 202T>C COAD-US 3 129214358 129214358 single base substitution T C missense_variant F698L 2092T>C COAD-US 3 129214358 129214358 single base substitution T C missense_variant F706L 2116T>C COAD-US 3 129214358 129214358 single base substitution T C missense_variant F757L 2269T>C COAD-US 3 129214369 129214369 single base substitution C T 3_prime_UTR_variant COAD-US 3 129214369 129214369 single base substitution C T downstream_gene_variant COAD-US 3 129214369 129214369 single base substitution C T exon_variant COAD-US 3 129214369 129214369 single base substitution C T intron_variant COAD-US 3 129214369 129214369 single base substitution C T synonymous_variant A206A 618C>T COAD-US 3 129214369 129214369 single base substitution C T synonymous_variant A500A 1500C>T COAD-US 3 129214369 129214369 single base substitution C T synonymous_variant A559A 1677C>T COAD-US 3 129214369 129214369 single base substitution C T synonymous_variant A585A 1755C>T COAD-US 3 129214369 129214369 single base substitution C T synonymous_variant A598A 1794C>T COAD-US 3 129214369 129214369 single base substitution C T synonymous_variant A650A 1950C>T COAD-US 3 129214369 129214369 single base substitution C T synonymous_variant A701A 2103C>T COAD-US 3 129214369 129214369 single base substitution C T synonymous_variant A709A 2127C>T COAD-US 3 129214369 129214369 single base substitution C T synonymous_variant A71A 213C>T COAD-US 3 129214369 129214369 single base substitution C T synonymous_variant A760A 2280C>T COAD-US 3 129218765 129218765 single base substitution C T 3_prime_UTR_variant COAD-US 3 129218765 129218765 single base substitution C T downstream_gene_variant COAD-US 3 129218765 129218765 single base substitution C T exon_variant COAD-US 3 129218765 129218765 single base substitution C T synonymous_variant D105D 315C>T COAD-US 3 129218765 129218765 single base substitution C T synonymous_variant D240D 720C>T COAD-US 3 129218765 129218765 single base substitution C T synonymous_variant D534D 1602C>T COAD-US 3 129218765 129218765 single base substitution C T synonymous_variant D593D 1779C>T COAD-US 3 129218765 129218765 single base substitution C T synonymous_variant D619D 1857C>T COAD-US 3 129218765 129218765 single base substitution C T synonymous_variant D632D 1896C>T COAD-US 3 129218765 129218765 single base substitution C T synonymous_variant D684D 2052C>T COAD-US 3 129218765 129218765 single base substitution C T synonymous_variant D735D 2205C>T COAD-US 3 129218765 129218765 single base substitution C T synonymous_variant D743D 2229C>T COAD-US 3 129218765 129218765 single base substitution C T synonymous_variant D794D 2382C>T COAD-US 3 129218838 129218838 single base substitution G C 3_prime_UTR_variant COAD-US 3 129218838 129218838 single base substitution G C downstream_gene_variant COAD-US 3 129218838 129218838 single base substitution G C exon_variant COAD-US 3 129218838 129218838 single base substitution G C missense_variant V130L 388G>C COAD-US 3 129218838 129218838 single base substitution G C missense_variant V265L 793G>C COAD-US 3 129218838 129218838 single base substitution G C missense_variant V559L 1675G>C COAD-US 3 129218838 129218838 single base substitution G C missense_variant V618L 1852G>C COAD-US 3 129218838 129218838 single base substitution G C missense_variant V644L 1930G>C COAD-US 3 129218838 129218838 single base substitution G C missense_variant V657L 1969G>C COAD-US 3 129218838 129218838 single base substitution G C missense_variant V709L 2125G>C COAD-US 3 129218838 129218838 single base substitution G C missense_variant V760L 2278G>C COAD-US 3 129218838 129218838 single base substitution G C missense_variant V768L 2302G>C COAD-US 3 129218838 129218838 single base substitution G C missense_variant V819L 2455G>C COAD-US 3 129226524 129226524 single base substitution G T 3_prime_UTR_variant COAD-US 3 129226524 129226524 single base substitution G T downstream_gene_variant COAD-US 3 129226524 129226524 single base substitution G T exon_variant COAD-US 3 129226524 129226524 single base substitution G T missense_variant K726N 2178G>T COAD-US 3 129226524 129226524 single base substitution G T missense_variant K785N 2355G>T COAD-US 3 129226524 129226524 single base substitution G T missense_variant K812N 2436G>T COAD-US 3 129226524 129226524 single base substitution G T missense_variant K825N 2475G>T COAD-US 3 129226524 129226524 single base substitution G T missense_variant K876N 2628G>T COAD-US 3 129226524 129226524 single base substitution G T missense_variant K928N 2784G>T COAD-US 3 129226524 129226524 single base substitution G T missense_variant K935N 2805G>T COAD-US 3 129226524 129226524 single base substitution G T missense_variant K986N 2958G>T COAD-US 3 129226524 129226524 single base substitution G T upstream_gene_variant COAD-US 3 129231177 129231177 single base substitution G A 3_prime_UTR_variant COAD-US 3 129231177 129231177 single base substitution G A exon_variant COAD-US 3 129231177 129231177 single base substitution G A missense_variant R1021H 3062G>A COAD-US 3 129231177 129231177 single base substitution G A missense_variant R761H 2282G>A COAD-US 3 129231177 129231177 single base substitution G A missense_variant R820H 2459G>A COAD-US 3 129231177 129231177 single base substitution G A missense_variant R847H 2540G>A COAD-US 3 129231177 129231177 single base substitution G A missense_variant R860H 2579G>A COAD-US 3 129231177 129231177 single base substitution G A missense_variant R911H 2732G>A COAD-US 3 129231177 129231177 single base substitution G A missense_variant R963H 2888G>A COAD-US 3 129231177 129231177 single base substitution G A missense_variant R970H 2909G>A COAD-US 3 129231177 129231177 single base substitution G A upstream_gene_variant COCA-CN 3 129155530 129155530 single base substitution T C upstream_gene_variant COCA-CN 3 129183403 129183403 single base substitution G T downstream_gene_variant COCA-CN 3 129183403 129183403 single base substitution G T intron_variant COCA-CN 3 129188325 129188325 single base substitution G A downstream_gene_variant COCA-CN 3 129188325 129188325 single base substitution G A intron_variant COCA-CN 3 129195171 129195171 single base substitution G A 3_prime_UTR_variant COCA-CN 3 129195171 129195171 single base substitution G A exon_variant COCA-CN 3 129195171 129195171 single base substitution G A missense_variant R103Q 308G>A COCA-CN 3 129195171 129195171 single base substitution G A missense_variant R127Q 380G>A COCA-CN 3 129195171 129195171 single base substitution G A missense_variant R155Q 464G>A COCA-CN 3 129195171 129195171 single base substitution G A missense_variant R166Q 497G>A COCA-CN 3 129195171 129195171 single base substitution G A missense_variant R171Q 512G>A COCA-CN 3 129195171 129195171 single base substitution G A missense_variant R218Q 653G>A COCA-CN 3 129195171 129195171 single base substitution G A missense_variant R269Q 806G>A COCA-CN 3 129195171 129195171 single base substitution G A missense_variant R277Q 830G>A COCA-CN 3 129195171 129195171 single base substitution G A missense_variant R328Q 983G>A COCA-CN 3 129195171 129195171 single base substitution G A missense_variant R68Q 203G>A COCA-CN 3 129195171 129195171 single base substitution G A upstream_gene_variant COCA-CN 3 129206847 129206847 single base substitution T C downstream_gene_variant COCA-CN 3 129206847 129206847 single base substitution T C intron_variant COCA-CN 3 129206847 129206847 single base substitution T C upstream_gene_variant COCA-CN 3 129207257 129207257 single base substitution C A downstream_gene_variant COCA-CN 3 129207257 129207257 single base substitution C A intron_variant COCA-CN 3 129214241 129214241 single base substitution C T intron_variant COCA-CN 3 129214241 129214241 single base substitution C T upstream_gene_variant COCA-CN 3 129226501 129226501 single base substitution C T downstream_gene_variant COCA-CN 3 129226501 129226501 single base substitution C T intron_variant COCA-CN 3 129226501 129226501 single base substitution C T splice_region_variant COCA-CN 3 129226501 129226501 single base substitution C T upstream_gene_variant COCA-CN 3 129231379 129231379 single base substitution G T exon_variant COCA-CN 3 129231379 129231379 single base substitution G T intron_variant COCA-CN 3 129239237 129239237 single base substitution C G downstream_gene_variant EOPC-DE 3 129174225 129174225 single base substitution G A downstream_gene_variant EOPC-DE 3 129174225 129174225 single base substitution G A intron_variant EOPC-DE 3 129231569 129231569 single base substitution C T exon_variant EOPC-DE 3 129231569 129231569 single base substitution C T intron_variant EOPC-DE 3 129232355 129232355 single base substitution G A exon_variant EOPC-DE 3 129232355 129232355 single base substitution G A intron_variant ESAD-UK 3 129158272 129158272 single base substitution C T upstream_gene_variant ESAD-UK 3 129158925 129158925 single base substitution C T upstream_gene_variant ESAD-UK 3 129161657 129161657 single base substitution G A intron_variant ESAD-UK 3 129161775 129161775 single base substitution A T intron_variant ESAD-UK 3 129167351 129167351 single base substitution T A intron_variant ESAD-UK 3 129167351 129167351 single base substitution T A upstream_gene_variant ESAD-UK 3 129167650 129167650 single base substitution T A intron_variant ESAD-UK 3 129167650 129167650 single base substitution T A upstream_gene_variant ESAD-UK 3 129169442 129169442 single base substitution C T intron_variant ESAD-UK 3 129173008 129173008 single base substitution C A downstream_gene_variant ESAD-UK 3 129173008 129173008 single base substitution C A intron_variant ESAD-UK 3 129183012 129183012 single base substitution G A downstream_gene_variant ESAD-UK 3 129183012 129183012 single base substitution G A intron_variant ESAD-UK 3 129183055 129183055 single base substitution C T downstream_gene_variant ESAD-UK 3 129183055 129183055 single base substitution C T intron_variant ESAD-UK 3 129184157 129184157 deletion of <=200bp T - downstream_gene_variant ESAD-UK 3 129184157 129184157 deletion of <=200bp T - intron_variant ESAD-UK 3 129189166 129189166 single base substitution G C intron_variant ESAD-UK 3 129189601 129189601 single base substitution C T intron_variant ESAD-UK 3 129192952 129192952 single base substitution G C intron_variant ESAD-UK 3 129192952 129192952 single base substitution G C upstream_gene_variant ESAD-UK 3 129194931 129194931 single base substitution G T intron_variant ESAD-UK 3 129194931 129194931 single base substitution G T upstream_gene_variant ESAD-UK 3 129197605 129197605 single base substitution T C downstream_gene_variant ESAD-UK 3 129197605 129197605 single base substitution T C intron_variant ESAD-UK 3 129197605 129197605 single base substitution T C upstream_gene_variant ESAD-UK 3 129199782 129199782 single base substitution G A downstream_gene_variant ESAD-UK 3 129199782 129199782 single base substitution G A intron_variant ESAD-UK 3 129199782 129199782 single base substitution G A upstream_gene_variant ESAD-UK 3 129200605 129200605 single base substitution C T downstream_gene_variant ESAD-UK 3 129200605 129200605 single base substitution C T intron_variant ESAD-UK 3 129202025 129202025 single base substitution G C downstream_gene_variant ESAD-UK 3 129202025 129202025 single base substitution G C intron_variant ESAD-UK 3 129202025 129202025 single base substitution G C upstream_gene_variant ESAD-UK 3 129205429 129205429 single base substitution G T downstream_gene_variant ESAD-UK 3 129205429 129205429 single base substitution G T intron_variant ESAD-UK 3 129205429 129205429 single base substitution G T upstream_gene_variant ESAD-UK 3 129205871 129205871 single base substitution C T downstream_gene_variant ESAD-UK 3 129205871 129205871 single base substitution C T intron_variant ESAD-UK 3 129205871 129205871 single base substitution C T upstream_gene_variant ESAD-UK 3 129206125 129206125 single base substitution G A downstream_gene_variant ESAD-UK 3 129206125 129206125 single base substitution G A intron_variant ESAD-UK 3 129206125 129206125 single base substitution G A upstream_gene_variant ESAD-UK 3 129206972 129206972 single base substitution C T downstream_gene_variant ESAD-UK 3 129206972 129206972 single base substitution C T intron_variant ESAD-UK 3 129206972 129206972 single base substitution C T upstream_gene_variant ESAD-UK 3 129208783 129208783 single base substitution G T intron_variant ESAD-UK 3 129209569 129209569 single base substitution G T intron_variant ESAD-UK 3 129209569 129209569 single base substitution G T upstream_gene_variant ESAD-UK 3 129212477 129212477 single base substitution G A intron_variant ESAD-UK 3 129212477 129212477 single base substitution G A upstream_gene_variant ESAD-UK 3 129213626 129213626 single base substitution G A intron_variant ESAD-UK 3 129213626 129213626 single base substitution G A upstream_gene_variant ESAD-UK 3 129213677 129213677 single base substitution A C intron_variant ESAD-UK 3 129213677 129213677 single base substitution A C upstream_gene_variant ESAD-UK 3 129214299 129214299 single base substitution A C 3_prime_UTR_variant ESAD-UK 3 129214299 129214299 single base substitution A C exon_variant ESAD-UK 3 129214299 129214299 single base substitution A C intron_variant ESAD-UK 3 129214299 129214299 single base substitution A C missense_variant K183T 548A>C ESAD-UK 3 129214299 129214299 single base substitution A C missense_variant K477T 1430A>C ESAD-UK 3 129214299 129214299 single base substitution A C missense_variant K48T 143A>C ESAD-UK 3 129214299 129214299 single base substitution A C missense_variant K536T 1607A>C ESAD-UK 3 129214299 129214299 single base substitution A C missense_variant K562T 1685A>C ESAD-UK 3 129214299 129214299 single base substitution A C missense_variant K575T 1724A>C ESAD-UK 3 129214299 129214299 single base substitution A C missense_variant K627T 1880A>C ESAD-UK 3 129214299 129214299 single base substitution A C missense_variant K678T 2033A>C ESAD-UK 3 129214299 129214299 single base substitution A C missense_variant K686T 2057A>C ESAD-UK 3 129214299 129214299 single base substitution A C missense_variant K737T 2210A>C ESAD-UK 3 129215746 129215746 single base substitution T G downstream_gene_variant ESAD-UK 3 129215746 129215746 single base substitution T G intron_variant ESAD-UK 3 129217066 129217066 deletion of <=200bp T - downstream_gene_variant ESAD-UK 3 129217066 129217066 deletion of <=200bp T - intron_variant ESAD-UK 3 129218829 129218829 single base substitution A C 3_prime_UTR_variant ESAD-UK 3 129218829 129218829 single base substitution A C downstream_gene_variant ESAD-UK 3 129218829 129218829 single base substitution A C exon_variant ESAD-UK 3 129218829 129218829 single base substitution A C missense_variant K127Q 379A>C ESAD-UK 3 129218829 129218829 single base substitution A C missense_variant K262Q 784A>C ESAD-UK 3 129218829 129218829 single base substitution A C missense_variant K556Q 1666A>C ESAD-UK 3 129218829 129218829 single base substitution A C missense_variant K615Q 1843A>C ESAD-UK 3 129218829 129218829 single base substitution A C missense_variant K641Q 1921A>C ESAD-UK 3 129218829 129218829 single base substitution A C missense_variant K654Q 1960A>C ESAD-UK 3 129218829 129218829 single base substitution A C missense_variant K706Q 2116A>C ESAD-UK 3 129218829 129218829 single base substitution A C missense_variant K757Q 2269A>C ESAD-UK 3 129218829 129218829 single base substitution A C missense_variant K765Q 2293A>C ESAD-UK 3 129218829 129218829 single base substitution A C missense_variant K816Q 2446A>C ESAD-UK 3 129220716 129220716 single base substitution C T intron_variant ESAD-UK 3 129221826 129221826 single base substitution G T downstream_gene_variant ESAD-UK 3 129221826 129221826 single base substitution G T intron_variant ESAD-UK 3 129222826 129222826 single base substitution G A downstream_gene_variant ESAD-UK 3 129222826 129222826 single base substitution G A exon_variant ESAD-UK 3 129222826 129222826 single base substitution G A intron_variant ESAD-UK 3 129223661 129223661 single base substitution A C downstream_gene_variant ESAD-UK 3 129223661 129223661 single base substitution A C intron_variant ESAD-UK 3 129223897 129223897 single base substitution C T downstream_gene_variant ESAD-UK 3 129223897 129223897 single base substitution C T intron_variant ESAD-UK 3 129224529 129224529 single base substitution C T downstream_gene_variant ESAD-UK 3 129224529 129224529 single base substitution C T intron_variant ESAD-UK 3 129225727 129225727 single base substitution A G downstream_gene_variant ESAD-UK 3 129225727 129225727 single base substitution A G intron_variant ESAD-UK 3 129228566 129228566 single base substitution G A intron_variant ESAD-UK 3 129228566 129228566 single base substitution G A upstream_gene_variant ESAD-UK 3 129230268 129230268 single base substitution A C intron_variant ESAD-UK 3 129230268 129230268 single base substitution A C upstream_gene_variant ESAD-UK 3 129232580 129232580 single base substitution A G exon_variant ESAD-UK 3 129232580 129232580 single base substitution A G intron_variant ESAD-UK 3 129233104 129233104 single base substitution C A exon_variant ESAD-UK 3 129233104 129233104 single base substitution C A intron_variant ESAD-UK 3 129234988 129234988 insertion of <=200bp - CA downstream_gene_variant ESAD-UK 3 129234988 129234988 insertion of <=200bp - CA intron_variant ESAD-UK 3 129237675 129237675 single base substitution G A downstream_gene_variant ESAD-UK 3 129237675 129237675 single base substitution G A intron_variant ESAD-UK 3 129238398 129238398 single base substitution G A downstream_gene_variant ESAD-UK 3 129238398 129238398 single base substitution G A intron_variant ESAD-UK 3 129238688 129238688 single base substitution A C intron_variant ESAD-UK 3 129239229 129239229 insertion of <=200bp - G downstream_gene_variant ESAD-UK 3 129240354 129240354 single base substitution G C downstream_gene_variant ESAD-UK 3 129240843 129240843 single base substitution G C downstream_gene_variant ESAD-UK 3 129240850 129240850 single base substitution A C downstream_gene_variant ESAD-UK 3 129241334 129241334 single base substitution G A downstream_gene_variant ESAD-UK 3 129243320 129243320 single base substitution G C downstream_gene_variant ESCA-CN 3 129207153 129207153 single base substitution G T 3_prime_UTR_variant ESCA-CN 3 129207153 129207153 single base substitution G T downstream_gene_variant ESCA-CN 3 129207153 129207153 single base substitution G T exon_variant ESCA-CN 3 129207153 129207153 single base substitution G T missense_variant Q150H 450G>T ESCA-CN 3 129207153 129207153 single base substitution G T missense_variant Q15H 45G>T ESCA-CN 3 129207153 129207153 single base substitution G T missense_variant Q426H 1278G>T ESCA-CN 3 129207153 129207153 single base substitution G T missense_variant Q485H 1455G>T ESCA-CN 3 129207153 129207153 single base substitution G T missense_variant Q524H 1572G>T ESCA-CN 3 129207153 129207153 single base substitution G T missense_variant Q529H 1587G>T ESCA-CN 3 129207153 129207153 single base substitution G T missense_variant Q576H 1728G>T ESCA-CN 3 129207153 129207153 single base substitution G T missense_variant Q627H 1881G>T ESCA-CN 3 129207153 129207153 single base substitution G T missense_variant Q635H 1905G>T ESCA-CN 3 129207153 129207153 single base substitution G T missense_variant Q686H 2058G>T ESCA-CN 3 129214358 129214358 single base substitution T C 3_prime_UTR_variant ESCA-CN 3 129214358 129214358 single base substitution T C downstream_gene_variant ESCA-CN 3 129214358 129214358 single base substitution T C exon_variant ESCA-CN 3 129214358 129214358 single base substitution T C intron_variant ESCA-CN 3 129214358 129214358 single base substitution T C missense_variant F203L 607T>C ESCA-CN 3 129214358 129214358 single base substitution T C missense_variant F497L 1489T>C ESCA-CN 3 129214358 129214358 single base substitution T C missense_variant F556L 1666T>C ESCA-CN 3 129214358 129214358 single base substitution T C missense_variant F582L 1744T>C ESCA-CN 3 129214358 129214358 single base substitution T C missense_variant F595L 1783T>C ESCA-CN 3 129214358 129214358 single base substitution T C missense_variant F647L 1939T>C ESCA-CN 3 129214358 129214358 single base substitution T C missense_variant F68L 202T>C ESCA-CN 3 129214358 129214358 single base substitution T C missense_variant F698L 2092T>C ESCA-CN 3 129214358 129214358 single base substitution T C missense_variant F706L 2116T>C ESCA-CN 3 129214358 129214358 single base substitution T C missense_variant F757L 2269T>C ESCA-CN 3 129214369 129214369 single base substitution C T 3_prime_UTR_variant ESCA-CN 3 129214369 129214369 single base substitution C T downstream_gene_variant ESCA-CN 3 129214369 129214369 single base substitution C T exon_variant ESCA-CN 3 129214369 129214369 single base substitution C T intron_variant ESCA-CN 3 129214369 129214369 single base substitution C T synonymous_variant A206A 618C>T ESCA-CN 3 129214369 129214369 single base substitution C T synonymous_variant A500A 1500C>T ESCA-CN 3 129214369 129214369 single base substitution C T synonymous_variant A559A 1677C>T ESCA-CN 3 129214369 129214369 single base substitution C T synonymous_variant A585A 1755C>T ESCA-CN 3 129214369 129214369 single base substitution C T synonymous_variant A598A 1794C>T ESCA-CN 3 129214369 129214369 single base substitution C T synonymous_variant A650A 1950C>T ESCA-CN 3 129214369 129214369 single base substitution C T synonymous_variant A701A 2103C>T ESCA-CN 3 129214369 129214369 single base substitution C T synonymous_variant A709A 2127C>T ESCA-CN 3 129214369 129214369 single base substitution C T synonymous_variant A71A 213C>T ESCA-CN 3 129214369 129214369 single base substitution C T synonymous_variant A760A 2280C>T GBM-US 3 129155916 129155916 single base substitution G A upstream_gene_variant GBM-US 3 129195512 129195512 single base substitution G A 3_prime_UTR_variant GBM-US 3 129195512 129195512 single base substitution G A downstream_gene_variant GBM-US 3 129195512 129195512 single base substitution G A exon_variant GBM-US 3 129195512 129195512 single base substitution G A missense_variant G130S 388G>A GBM-US 3 129195512 129195512 single base substitution G A missense_variant G165S 493G>A GBM-US 3 129195512 129195512 single base substitution G A missense_variant G189S 565G>A GBM-US 3 129195512 129195512 single base substitution G A missense_variant G217S 649G>A GBM-US 3 129195512 129195512 single base substitution G A missense_variant G228S 682G>A GBM-US 3 129195512 129195512 single base substitution G A missense_variant G233S 697G>A GBM-US 3 129195512 129195512 single base substitution G A missense_variant G280S 838G>A GBM-US 3 129195512 129195512 single base substitution G A missense_variant G331S 991G>A GBM-US 3 129195512 129195512 single base substitution G A missense_variant G339S 1015G>A GBM-US 3 129195512 129195512 single base substitution G A missense_variant G390S 1168G>A GBM-US 3 129195512 129195512 single base substitution G A upstream_gene_variant GBM-US 3 129214370 129214370 single base substitution G A 3_prime_UTR_variant GBM-US 3 129214370 129214370 single base substitution G A downstream_gene_variant GBM-US 3 129214370 129214370 single base substitution G A exon_variant GBM-US 3 129214370 129214370 single base substitution G A intron_variant GBM-US 3 129214370 129214370 single base substitution G A missense_variant A207T 619G>A GBM-US 3 129214370 129214370 single base substitution G A missense_variant A501T 1501G>A GBM-US 3 129214370 129214370 single base substitution G A missense_variant A560T 1678G>A GBM-US 3 129214370 129214370 single base substitution G A missense_variant A586T 1756G>A GBM-US 3 129214370 129214370 single base substitution G A missense_variant A599T 1795G>A GBM-US 3 129214370 129214370 single base substitution G A missense_variant A651T 1951G>A GBM-US 3 129214370 129214370 single base substitution G A missense_variant A702T 2104G>A GBM-US 3 129214370 129214370 single base substitution G A missense_variant A710T 2128G>A GBM-US 3 129214370 129214370 single base substitution G A missense_variant A72T 214G>A GBM-US 3 129214370 129214370 single base substitution G A missense_variant A761T 2281G>A KIRP-US 3 129214436 129214436 deletion of <=200bp T - 3_prime_UTR_variant KIRP-US 3 129214436 129214436 deletion of <=200bp T - downstream_gene_variant KIRP-US 3 129214436 129214436 deletion of <=200bp T - exon_variant KIRP-US 3 129214436 129214436 deletion of <=200bp T - frameshift_variant F229 KIRP-US 3 129214436 129214436 deletion of <=200bp T - frameshift_variant F523 KIRP-US 3 129214436 129214436 deletion of <=200bp T - frameshift_variant F582 KIRP-US 3 129214436 129214436 deletion of <=200bp T - frameshift_variant F608 KIRP-US 3 129214436 129214436 deletion of <=200bp T - frameshift_variant F621 KIRP-US 3 129214436 129214436 deletion of <=200bp T - frameshift_variant F673 KIRP-US 3 129214436 129214436 deletion of <=200bp T - frameshift_variant F724 KIRP-US 3 129214436 129214436 deletion of <=200bp T - frameshift_variant F732 KIRP-US 3 129214436 129214436 deletion of <=200bp T - frameshift_variant F783 KIRP-US 3 129214436 129214436 deletion of <=200bp T - frameshift_variant F94 KIRP-US 3 129214436 129214436 deletion of <=200bp T - intron_variant LAML-KR 3 129185641 129185641 single base substitution T C downstream_gene_variant LAML-KR 3 129185641 129185641 single base substitution T C intron_variant LAML-KR 3 129206971 129206971 single base substitution G A downstream_gene_variant LAML-KR 3 129206971 129206971 single base substitution G A intron_variant LAML-KR 3 129206971 129206971 single base substitution G A upstream_gene_variant LAML-KR 3 129213756 129213756 single base substitution A T intron_variant LAML-KR 3 129213756 129213756 single base substitution A T upstream_gene_variant LAML-KR 3 129214241 129214241 single base substitution C T intron_variant LAML-KR 3 129214241 129214241 single base substitution C T upstream_gene_variant LAML-KR 3 129214358 129214358 single base substitution T C 3_prime_UTR_variant LAML-KR 3 129214358 129214358 single base substitution T C downstream_gene_variant LAML-KR 3 129214358 129214358 single base substitution T C exon_variant LAML-KR 3 129214358 129214358 single base substitution T C intron_variant LAML-KR 3 129214358 129214358 single base substitution T C missense_variant F203L 607T>C LAML-KR 3 129214358 129214358 single base substitution T C missense_variant F497L 1489T>C LAML-KR 3 129214358 129214358 single base substitution T C missense_variant F556L 1666T>C LAML-KR 3 129214358 129214358 single base substitution T C missense_variant F582L 1744T>C LAML-KR 3 129214358 129214358 single base substitution T C missense_variant F595L 1783T>C LAML-KR 3 129214358 129214358 single base substitution T C missense_variant F647L 1939T>C LAML-KR 3 129214358 129214358 single base substitution T C missense_variant F68L 202T>C LAML-KR 3 129214358 129214358 single base substitution T C missense_variant F698L 2092T>C LAML-KR 3 129214358 129214358 single base substitution T C missense_variant F706L 2116T>C LAML-KR 3 129214358 129214358 single base substitution T C missense_variant F757L 2269T>C LAML-KR 3 129214369 129214369 single base substitution C T 3_prime_UTR_variant LAML-KR 3 129214369 129214369 single base substitution C T downstream_gene_variant LAML-KR 3 129214369 129214369 single base substitution C T exon_variant LAML-KR 3 129214369 129214369 single base substitution C T intron_variant LAML-KR 3 129214369 129214369 single base substitution C T synonymous_variant A206A 618C>T LAML-KR 3 129214369 129214369 single base substitution C T synonymous_variant A500A 1500C>T LAML-KR 3 129214369 129214369 single base substitution C T synonymous_variant A559A 1677C>T LAML-KR 3 129214369 129214369 single base substitution C T synonymous_variant A585A 1755C>T LAML-KR 3 129214369 129214369 single base substitution C T synonymous_variant A598A 1794C>T LAML-KR 3 129214369 129214369 single base substitution C T synonymous_variant A650A 1950C>T LAML-KR 3 129214369 129214369 single base substitution C T synonymous_variant A701A 2103C>T LAML-KR 3 129214369 129214369 single base substitution C T synonymous_variant A709A 2127C>T LAML-KR 3 129214369 129214369 single base substitution C T synonymous_variant A71A 213C>T LAML-KR 3 129214369 129214369 single base substitution C T synonymous_variant A760A 2280C>T LAML-KR 3 129234198 129234198 single base substitution G A downstream_gene_variant LAML-KR 3 129234198 129234198 single base substitution G A exon_variant LAML-KR 3 129234198 129234198 single base substitution G A intron_variant LAML-KR 3 129235771 129235771 single base substitution G A downstream_gene_variant LAML-KR 3 129235771 129235771 single base substitution G A intron_variant LAML-KR 3 129235872 129235872 single base substitution G C downstream_gene_variant LAML-KR 3 129235872 129235872 single base substitution G C intron_variant LAML-KR 3 129236101 129236101 single base substitution C G downstream_gene_variant LAML-KR 3 129236101 129236101 single base substitution C G intron_variant LGG-US 3 129155397 129155399 deletion of <=200bp CTT - upstream_gene_variant LGG-US 3 129214370 129214370 single base substitution G A 3_prime_UTR_variant LGG-US 3 129214370 129214370 single base substitution G A downstream_gene_variant LGG-US 3 129214370 129214370 single base substitution G A exon_variant LGG-US 3 129214370 129214370 single base substitution G A intron_variant LGG-US 3 129214370 129214370 single base substitution G A missense_variant A207T 619G>A LGG-US 3 129214370 129214370 single base substitution G A missense_variant A501T 1501G>A LGG-US 3 129214370 129214370 single base substitution G A missense_variant A560T 1678G>A LGG-US 3 129214370 129214370 single base substitution G A missense_variant A586T 1756G>A LGG-US 3 129214370 129214370 single base substitution G A missense_variant A599T 1795G>A LGG-US 3 129214370 129214370 single base substitution G A missense_variant A651T 1951G>A LGG-US 3 129214370 129214370 single base substitution G A missense_variant A702T 2104G>A LGG-US 3 129214370 129214370 single base substitution G A missense_variant A710T 2128G>A LGG-US 3 129214370 129214370 single base substitution G A missense_variant A72T 214G>A LGG-US 3 129214370 129214370 single base substitution G A missense_variant A761T 2281G>A LICA-CN 3 129155871 129155871 single base substitution T A upstream_gene_variant LICA-CN 3 129226583 129226583 single base substitution A C 3_prime_UTR_variant LICA-CN 3 129226583 129226583 single base substitution A C downstream_gene_variant LICA-CN 3 129226583 129226583 single base substitution A C exon_variant LICA-CN 3 129226583 129226583 single base substitution A C missense_variant Y1006S 3017A>C LICA-CN 3 129226583 129226583 single base substitution A C missense_variant Y746S 2237A>C LICA-CN 3 129226583 129226583 single base substitution A C missense_variant Y805S 2414A>C LICA-CN 3 129226583 129226583 single base substitution A C missense_variant Y832S 2495A>C LICA-CN 3 129226583 129226583 single base substitution A C missense_variant Y845S 2534A>C LICA-CN 3 129226583 129226583 single base substitution A C missense_variant Y896S 2687A>C LICA-CN 3 129226583 129226583 single base substitution A C missense_variant Y948S 2843A>C LICA-CN 3 129226583 129226583 single base substitution A C missense_variant Y955S 2864A>C LICA-CN 3 129226583 129226583 single base substitution A C upstream_gene_variant LICA-FR 3 129168763 129168763 single base substitution G A 5_prime_UTR_variant LICA-FR 3 129168763 129168763 single base substitution G A exon_variant LICA-FR 3 129168763 129168763 single base substitution G A missense_variant A17T 49G>A LICA-FR 3 129168763 129168763 single base substitution G A missense_variant A31T 91G>A LICA-FR 3 129197366 129197366 single base substitution T G downstream_gene_variant LICA-FR 3 129197366 129197366 single base substitution T G intron_variant LICA-FR 3 129197366 129197366 single base substitution T G upstream_gene_variant LICA-FR 3 129206992 129206992 single base substitution A T downstream_gene_variant LICA-FR 3 129206992 129206992 single base substitution A T intron_variant LICA-FR 3 129206992 129206992 single base substitution A T upstream_gene_variant LICA-FR 3 129214272 129214272 single base substitution G A intron_variant LICA-FR 3 129214272 129214272 single base substitution G A upstream_gene_variant LICA-FR 3 129215127 129215127 single base substitution G T downstream_gene_variant LICA-FR 3 129215127 129215127 single base substitution G T intron_variant LICA-FR 3 129217823 129217827 deletion of <=200bp CCAGC - downstream_gene_variant LICA-FR 3 129217823 129217827 deletion of <=200bp CCAGC - intron_variant LICA-FR 3 129219310 129219310 deletion of <=200bp A - downstream_gene_variant LICA-FR 3 129219310 129219310 deletion of <=200bp A - intron_variant LICA-FR 3 129227582 129227582 single base substitution T G downstream_gene_variant LICA-FR 3 129227582 129227582 single base substitution T G intron_variant LICA-FR 3 129227582 129227582 single base substitution T G upstream_gene_variant LICA-FR 3 129235407 129235410 deletion of <=200bp CACA - downstream_gene_variant LICA-FR 3 129235407 129235410 deletion of <=200bp CACA - intron_variant LICA-FR 3 129239056 129239056 single base substitution A T 3_prime_UTR_variant LICA-FR 3 129239056 129239056 single base substitution A T exon_variant LICA-FR 3 129239056 129239056 single base substitution A T missense_variant Q1016L 3047A>T LICA-FR 3 129239056 129239056 single base substitution A T missense_variant Q1075L 3224A>T LICA-FR 3 129239056 129239056 single base substitution A T missense_variant Q1102L 3305A>T LICA-FR 3 129239056 129239056 single base substitution A T missense_variant Q1115L 3344A>T LICA-FR 3 129239056 129239056 single base substitution A T missense_variant Q1166L 3497A>T LICA-FR 3 129239056 129239056 single base substitution A T missense_variant Q1218L 3653A>T LICA-FR 3 129239056 129239056 single base substitution A T missense_variant Q1225L 3674A>T LICA-FR 3 129239056 129239056 single base substitution A T missense_variant Q1276L 3827A>T LIHC-US 3 129155490 129155490 single base substitution T A upstream_gene_variant LIHC-US 3 129238004 129238004 single base substitution C A 3_prime_UTR_variant LIHC-US 3 129238004 129238004 single base substitution C A downstream_gene_variant LIHC-US 3 129238004 129238004 single base substitution C A exon_variant LIHC-US 3 129238004 129238004 single base substitution C A missense_variant P1026Q 3077C>A LIHC-US 3 129238004 129238004 single base substitution C A missense_variant P1039Q 3116C>A LIHC-US 3 129238004 129238004 single base substitution C A missense_variant P1090Q 3269C>A LIHC-US 3 129238004 129238004 single base substitution C A missense_variant P1142Q 3425C>A LIHC-US 3 129238004 129238004 single base substitution C A missense_variant P1149Q 3446C>A LIHC-US 3 129238004 129238004 single base substitution C A missense_variant P1200Q 3599C>A LIHC-US 3 129238004 129238004 single base substitution C A missense_variant P940Q 2819C>A LIHC-US 3 129238004 129238004 single base substitution C A missense_variant P999Q 2996C>A LINC-JP 3 129155469 129155469 single base substitution T C upstream_gene_variant LINC-JP 3 129170833 129170833 single base substitution C T 5_prime_UTR_variant LINC-JP 3 129170833 129170833 single base substitution C T exon_variant LINC-JP 3 129170833 129170833 single base substitution C T intron_variant LINC-JP 3 129170833 129170833 single base substitution C T missense_variant A48V 143C>T LINC-JP 3 129170833 129170833 single base substitution C T missense_variant A62V 185C>T LINC-JP 3 129178027 129178027 single base substitution C A intron_variant LINC-JP 3 129178027 129178027 single base substitution C A upstream_gene_variant LINC-JP 3 129179601 129179601 single base substitution A T intron_variant LINC-JP 3 129179601 129179601 single base substitution A T upstream_gene_variant LINC-JP 3 129198761 129198761 single base substitution G T 3_prime_UTR_variant LINC-JP 3 129198761 129198761 single base substitution G T downstream_gene_variant LINC-JP 3 129198761 129198761 single base substitution G T exon_variant LINC-JP 3 129198761 129198761 single base substitution G T missense_variant G10V 29G>T LINC-JP 3 129198761 129198761 single base substitution G T missense_variant G286V 857G>T LINC-JP 3 129198761 129198761 single base substitution G T missense_variant G345V 1034G>T LINC-JP 3 129198761 129198761 single base substitution G T missense_variant G384V 1151G>T LINC-JP 3 129198761 129198761 single base substitution G T missense_variant G389V 1166G>T LINC-JP 3 129198761 129198761 single base substitution G T missense_variant G436V 1307G>T LINC-JP 3 129198761 129198761 single base substitution G T missense_variant G487V 1460G>T LINC-JP 3 129198761 129198761 single base substitution G T missense_variant G495V 1484G>T LINC-JP 3 129198761 129198761 single base substitution G T missense_variant G546V 1637G>T LINC-JP 3 129198761 129198761 single base substitution G T upstream_gene_variant LINC-JP 3 129204167 129204167 single base substitution A G downstream_gene_variant LINC-JP 3 129204167 129204167 single base substitution A G intron_variant LINC-JP 3 129204167 129204167 single base substitution A G upstream_gene_variant LINC-JP 3 129214116 129214116 single base substitution G A intron_variant LINC-JP 3 129214116 129214116 single base substitution G A upstream_gene_variant LINC-JP 3 129225383 129225383 single base substitution A G 3_prime_UTR_variant LINC-JP 3 129225383 129225383 single base substitution A G downstream_gene_variant LINC-JP 3 129225383 129225383 single base substitution A G exon_variant LINC-JP 3 129225383 129225383 single base substitution A G missense_variant I719V 2155A>G LINC-JP 3 129225383 129225383 single base substitution A G missense_variant I778V 2332A>G LINC-JP 3 129225383 129225383 single base substitution A G missense_variant I804V 2410A>G LINC-JP 3 129225383 129225383 single base substitution A G missense_variant I817V 2449A>G LINC-JP 3 129225383 129225383 single base substitution A G missense_variant I869V 2605A>G LINC-JP 3 129225383 129225383 single base substitution A G missense_variant I920V 2758A>G LINC-JP 3 129225383 129225383 single base substitution A G missense_variant I928V 2782A>G LINC-JP 3 129225383 129225383 single base substitution A G missense_variant I979V 2935A>G LINC-JP 3 129237861 129237861 single base substitution C A downstream_gene_variant LINC-JP 3 129237861 129237861 single base substitution C A intron_variant LINC-JP 3 129239421 129239421 single base substitution T G downstream_gene_variant LIRI-JP 3 129155048 129155048 single base substitution A G upstream_gene_variant LIRI-JP 3 129156347 129156347 single base substitution A T upstream_gene_variant LIRI-JP 3 129157273 129157273 single base substitution T C upstream_gene_variant LIRI-JP 3 129157874 129157874 single base substitution T C upstream_gene_variant LIRI-JP 3 129158050 129158050 single base substitution T C upstream_gene_variant LIRI-JP 3 129159201 129159201 single base substitution A C 5_prime_UTR_variant LIRI-JP 3 129159201 129159201 single base substitution A C exon_variant LIRI-JP 3 129159201 129159201 single base substitution A C missense_variant K10Q 28A>C LIRI-JP 3 129159633 129159633 single base substitution A G intron_variant LIRI-JP 3 129160543 129160543 single base substitution C T intron_variant LIRI-JP 3 129162045 129162045 single base substitution C T intron_variant LIRI-JP 3 129162409 129162409 single base substitution G T intron_variant LIRI-JP 3 129164204 129164204 single base substitution C G intron_variant LIRI-JP 3 129164204 129164204 single base substitution C G upstream_gene_variant LIRI-JP 3 129166583 129166583 single base substitution T C intron_variant LIRI-JP 3 129166583 129166583 single base substitution T C upstream_gene_variant LIRI-JP 3 129169463 129169463 single base substitution C T intron_variant LIRI-JP 3 129171423 129171423 single base substitution C T downstream_gene_variant LIRI-JP 3 129171423 129171423 single base substitution C T intron_variant LIRI-JP 3 129173032 129173032 single base substitution A G downstream_gene_variant LIRI-JP 3 129173032 129173032 single base substitution A G intron_variant LIRI-JP 3 129174245 129174245 single base substitution A T downstream_gene_variant LIRI-JP 3 129174245 129174245 single base substitution A T intron_variant LIRI-JP 3 129175439 129175439 single base substitution C A downstream_gene_variant LIRI-JP 3 129175439 129175439 single base substitution C A intron_variant LIRI-JP 3 129175439 129175439 single base substitution C A upstream_gene_variant LIRI-JP 3 129175954 129175954 single base substitution T G downstream_gene_variant LIRI-JP 3 129175954 129175954 single base substitution T G intron_variant LIRI-JP 3 129175954 129175954 single base substitution T G upstream_gene_variant LIRI-JP 3 129176427 129176427 single base substitution A C intron_variant LIRI-JP 3 129176427 129176427 single base substitution A C upstream_gene_variant LIRI-JP 3 129176797 129176797 single base substitution G A exon_variant LIRI-JP 3 129176797 129176797 single base substitution G A intron_variant LIRI-JP 3 129176797 129176797 single base substitution G A upstream_gene_variant LIRI-JP 3 129180415 129180415 single base substitution T G downstream_gene_variant LIRI-JP 3 129180415 129180415 single base substitution T G intron_variant LIRI-JP 3 129180415 129180415 single base substitution T G upstream_gene_variant LIRI-JP 3 129181417 129181417 single base substitution A G downstream_gene_variant LIRI-JP 3 129181417 129181417 single base substitution A G intron_variant LIRI-JP 3 129181417 129181417 single base substitution A G upstream_gene_variant LIRI-JP 3 129182246 129182246 single base substitution T A downstream_gene_variant LIRI-JP 3 129182246 129182246 single base substitution T A exon_variant LIRI-JP 3 129182246 129182246 single base substitution T A intron_variant LIRI-JP 3 129186132 129186132 single base substitution A G downstream_gene_variant LIRI-JP 3 129186132 129186132 single base substitution A G intron_variant LIRI-JP 3 129186352 129186352 single base substitution C G downstream_gene_variant LIRI-JP 3 129186352 129186352 single base substitution C G intron_variant LIRI-JP 3 129188985 129188985 single base substitution T C intron_variant LIRI-JP 3 129190511 129190511 single base substitution A G intron_variant LIRI-JP 3 129190511 129190511 single base substitution A G upstream_gene_variant LIRI-JP 3 129190615 129190615 single base substitution A T intron_variant LIRI-JP 3 129190615 129190615 single base substitution A T upstream_gene_variant LIRI-JP 3 129191460 129191460 single base substitution T C intron_variant LIRI-JP 3 129191460 129191460 single base substitution T C upstream_gene_variant LIRI-JP 3 129192607 129192607 single base substitution A T intron_variant LIRI-JP 3 129192607 129192607 single base substitution A T upstream_gene_variant LIRI-JP 3 129193674 129193674 single base substitution A G intron_variant LIRI-JP 3 129193674 129193674 single base substitution A G upstream_gene_variant LIRI-JP 3 129194102 129194102 single base substitution A G intron_variant LIRI-JP 3 129194102 129194102 single base substitution A G upstream_gene_variant LIRI-JP 3 129194271 129194271 single base substitution G T intron_variant LIRI-JP 3 129194271 129194271 single base substitution G T upstream_gene_variant LIRI-JP 3 129194958 129194958 single base substitution G A intron_variant LIRI-JP 3 129194958 129194958 single base substitution G A upstream_gene_variant LIRI-JP 3 129195596 129195596 single base substitution G T 3_prime_UTR_variant LIRI-JP 3 129195596 129195596 single base substitution G T downstream_gene_variant LIRI-JP 3 129195596 129195596 single base substitution G T exon_variant LIRI-JP 3 129195596 129195596 single base substitution G T missense_variant D158Y 472G>T LIRI-JP 3 129195596 129195596 single base substitution G T missense_variant D193Y 577G>T LIRI-JP 3 129195596 129195596 single base substitution G T missense_variant D217Y 649G>T LIRI-JP 3 129195596 129195596 single base substitution G T missense_variant D256Y 766G>T LIRI-JP 3 129195596 129195596 single base substitution G T missense_variant D261Y 781G>T LIRI-JP 3 129195596 129195596 single base substitution G T missense_variant D308Y 922G>T LIRI-JP 3 129195596 129195596 single base substitution G T missense_variant D359Y 1075G>T LIRI-JP 3 129195596 129195596 single base substitution G T missense_variant D367Y 1099G>T LIRI-JP 3 129195596 129195596 single base substitution G T missense_variant D418Y 1252G>T LIRI-JP 3 129195596 129195596 single base substitution G T synonymous_variant ?245 LIRI-JP 3 129195596 129195596 single base substitution G T upstream_gene_variant LIRI-JP 3 129197453 129197453 single base substitution A C downstream_gene_variant LIRI-JP 3 129197453 129197453 single base substitution A C intron_variant LIRI-JP 3 129197453 129197453 single base substitution A C upstream_gene_variant LIRI-JP 3 129197504 129197504 single base substitution G A downstream_gene_variant LIRI-JP 3 129197504 129197504 single base substitution G A intron_variant LIRI-JP 3 129197504 129197504 single base substitution G A upstream_gene_variant LIRI-JP 3 129197992 129197992 single base substitution A C downstream_gene_variant LIRI-JP 3 129197992 129197992 single base substitution A C intron_variant LIRI-JP 3 129197992 129197992 single base substitution A C upstream_gene_variant LIRI-JP 3 129203979 129203979 single base substitution A G downstream_gene_variant LIRI-JP 3 129203979 129203979 single base substitution A G intron_variant LIRI-JP 3 129203979 129203979 single base substitution A G upstream_gene_variant LIRI-JP 3 129204074 129204074 single base substitution G A downstream_gene_variant LIRI-JP 3 129204074 129204074 single base substitution G A intron_variant LIRI-JP 3 129204074 129204074 single base substitution G A upstream_gene_variant LIRI-JP 3 129206847 129206847 single base substitution T C downstream_gene_variant LIRI-JP 3 129206847 129206847 single base substitution T C intron_variant LIRI-JP 3 129206847 129206847 single base substitution T C upstream_gene_variant LIRI-JP 3 129206899 129206899 single base substitution A G downstream_gene_variant LIRI-JP 3 129206899 129206899 single base substitution A G intron_variant LIRI-JP 3 129206899 129206899 single base substitution A G upstream_gene_variant LIRI-JP 3 129206908 129206908 single base substitution A G downstream_gene_variant LIRI-JP 3 129206908 129206908 single base substitution A G intron_variant LIRI-JP 3 129206908 129206908 single base substitution A G upstream_gene_variant LIRI-JP 3 129206925 129206925 single base substitution T C downstream_gene_variant LIRI-JP 3 129206925 129206925 single base substitution T C intron_variant LIRI-JP 3 129206925 129206925 single base substitution T C upstream_gene_variant LIRI-JP 3 129208117 129208117 single base substitution C T intron_variant LIRI-JP 3 129208903 129208903 single base substitution A T intron_variant LIRI-JP 3 129210113 129210113 single base substitution T C intron_variant LIRI-JP 3 129210113 129210113 single base substitution T C upstream_gene_variant LIRI-JP 3 129210585 129210585 single base substitution T C intron_variant LIRI-JP 3 129210585 129210585 single base substitution T C upstream_gene_variant LIRI-JP 3 129212293 129212293 single base substitution T C intron_variant LIRI-JP 3 129212293 129212293 single base substitution T C upstream_gene_variant LIRI-JP 3 129213625 129213625 single base substitution C T intron_variant LIRI-JP 3 129213625 129213625 single base substitution C T upstream_gene_variant LIRI-JP 3 129214013 129214013 single base substitution C T intron_variant LIRI-JP 3 129214013 129214013 single base substitution C T upstream_gene_variant LIRI-JP 3 129214116 129214116 single base substitution G A intron_variant LIRI-JP 3 129214116 129214116 single base substitution G A upstream_gene_variant LIRI-JP 3 129215728 129215728 single base substitution T G downstream_gene_variant LIRI-JP 3 129215728 129215728 single base substitution T G intron_variant LIRI-JP 3 129215741 129215741 single base substitution A G downstream_gene_variant LIRI-JP 3 129215741 129215741 single base substitution A G intron_variant LIRI-JP 3 129220217 129220217 single base substitution G A intron_variant LIRI-JP 3 129220717 129220717 single base substitution G A intron_variant LIRI-JP 3 129220888 129220888 single base substitution A G intron_variant LIRI-JP 3 129224420 129224420 single base substitution G A downstream_gene_variant LIRI-JP 3 129224420 129224420 single base substitution G A intron_variant LIRI-JP 3 129225030 129225030 single base substitution G A downstream_gene_variant LIRI-JP 3 129225030 129225030 single base substitution G A intron_variant LIRI-JP 3 129225108 129225108 single base substitution T A downstream_gene_variant LIRI-JP 3 129225108 129225108 single base substitution T A intron_variant LIRI-JP 3 129227352 129227352 single base substitution A C downstream_gene_variant LIRI-JP 3 129227352 129227352 single base substitution A C intron_variant LIRI-JP 3 129227352 129227352 single base substitution A C upstream_gene_variant LIRI-JP 3 129228132 129228132 single base substitution C A downstream_gene_variant LIRI-JP 3 129228132 129228132 single base substitution C A intron_variant LIRI-JP 3 129228132 129228132 single base substitution C A upstream_gene_variant LIRI-JP 3 129230057 129230057 single base substitution A C intron_variant LIRI-JP 3 129230057 129230057 single base substitution A C upstream_gene_variant LIRI-JP 3 129231445 129231445 single base substitution G C exon_variant LIRI-JP 3 129231445 129231445 single base substitution G C intron_variant LIRI-JP 3 129233717 129233717 single base substitution G T downstream_gene_variant LIRI-JP 3 129233717 129233717 single base substitution G T exon_variant LIRI-JP 3 129233717 129233717 single base substitution G T intron_variant LIRI-JP 3 129233718 129233718 single base substitution G T downstream_gene_variant LIRI-JP 3 129233718 129233718 single base substitution G T exon_variant LIRI-JP 3 129233718 129233718 single base substitution G T intron_variant LIRI-JP 3 129237000 129237000 single base substitution C A downstream_gene_variant LIRI-JP 3 129237000 129237000 single base substitution C A intron_variant LIRI-JP 3 129237791 129237791 single base substitution T A downstream_gene_variant LIRI-JP 3 129237791 129237791 single base substitution T A intron_variant LIRI-JP 3 129237792 129237792 single base substitution C A downstream_gene_variant LIRI-JP 3 129237792 129237792 single base substitution C A intron_variant LIRI-JP 3 129238291 129238291 single base substitution C T downstream_gene_variant LIRI-JP 3 129238291 129238291 single base substitution C T intron_variant LIRI-JP 3 129240876 129240876 single base substitution C T downstream_gene_variant LIRI-JP 3 129241290 129241290 single base substitution G A downstream_gene_variant LIRI-JP 3 129241371 129241371 single base substitution A C downstream_gene_variant LUSC-KR 3 129157539 129157539 single base substitution A T upstream_gene_variant LUSC-KR 3 129162318 129162318 single base substitution T C intron_variant LUSC-KR 3 129163766 129163766 single base substitution C T intron_variant LUSC-KR 3 129163766 129163766 single base substitution C T upstream_gene_variant LUSC-KR 3 129173358 129173358 single base substitution G T downstream_gene_variant LUSC-KR 3 129173358 129173358 single base substitution G T intron_variant LUSC-KR 3 129175308 129175308 single base substitution C T downstream_gene_variant LUSC-KR 3 129175308 129175308 single base substitution C T intron_variant LUSC-KR 3 129175308 129175308 single base substitution C T upstream_gene_variant LUSC-KR 3 129178477 129178477 single base substitution T C intron_variant LUSC-KR 3 129178477 129178477 single base substitution T C upstream_gene_variant LUSC-KR 3 129189400 129189400 single base substitution G A intron_variant LUSC-KR 3 129191022 129191022 single base substitution G T intron_variant LUSC-KR 3 129191022 129191022 single base substitution G T upstream_gene_variant LUSC-KR 3 129193841 129193841 single base substitution A G intron_variant LUSC-KR 3 129193841 129193841 single base substitution A G upstream_gene_variant LUSC-KR 3 129195788 129195788 single base substitution C T downstream_gene_variant LUSC-KR 3 129195788 129195788 single base substitution C T intron_variant LUSC-KR 3 129195788 129195788 single base substitution C T upstream_gene_variant LUSC-KR 3 129198002 129198002 single base substitution G A downstream_gene_variant LUSC-KR 3 129198002 129198002 single base substitution G A intron_variant LUSC-KR 3 129198002 129198002 single base substitution G A upstream_gene_variant LUSC-KR 3 129199579 129199579 single base substitution A T downstream_gene_variant LUSC-KR 3 129199579 129199579 single base substitution A T intron_variant LUSC-KR 3 129199579 129199579 single base substitution A T upstream_gene_variant LUSC-KR 3 129201653 129201653 single base substitution A T downstream_gene_variant LUSC-KR 3 129201653 129201653 single base substitution A T intron_variant LUSC-KR 3 129201653 129201653 single base substitution A T upstream_gene_variant LUSC-KR 3 129206343 129206343 single base substitution G C downstream_gene_variant LUSC-KR 3 129206343 129206343 single base substitution G C intron_variant LUSC-KR 3 129206343 129206343 single base substitution G C upstream_gene_variant LUSC-KR 3 129206971 129206971 single base substitution G A downstream_gene_variant LUSC-KR 3 129206971 129206971 single base substitution G A intron_variant LUSC-KR 3 129206971 129206971 single base substitution G A upstream_gene_variant LUSC-KR 3 129207191 129207191 single base substitution A C 3_prime_UTR_variant LUSC-KR 3 129207191 129207191 single base substitution A C downstream_gene_variant LUSC-KR 3 129207191 129207191 single base substitution A C exon_variant LUSC-KR 3 129207191 129207191 single base substitution A C missense_variant E163A 488A>C LUSC-KR 3 129207191 129207191 single base substitution A C missense_variant E28A 83A>C LUSC-KR 3 129207191 129207191 single base substitution A C missense_variant E439A 1316A>C LUSC-KR 3 129207191 129207191 single base substitution A C missense_variant E498A 1493A>C LUSC-KR 3 129207191 129207191 single base substitution A C missense_variant E537A 1610A>C LUSC-KR 3 129207191 129207191 single base substitution A C missense_variant E542A 1625A>C LUSC-KR 3 129207191 129207191 single base substitution A C missense_variant E589A 1766A>C LUSC-KR 3 129207191 129207191 single base substitution A C missense_variant E640A 1919A>C LUSC-KR 3 129207191 129207191 single base substitution A C missense_variant E648A 1943A>C LUSC-KR 3 129207191 129207191 single base substitution A C missense_variant E699A 2096A>C LUSC-KR 3 129207309 129207309 single base substitution C G downstream_gene_variant LUSC-KR 3 129207309 129207309 single base substitution C G intron_variant LUSC-KR 3 129212449 129212449 single base substitution C G intron_variant LUSC-KR 3 129212449 129212449 single base substitution C G upstream_gene_variant LUSC-KR 3 129214241 129214241 single base substitution C T intron_variant LUSC-KR 3 129214241 129214241 single base substitution C T upstream_gene_variant LUSC-KR 3 129215099 129215099 single base substitution G T downstream_gene_variant LUSC-KR 3 129215099 129215099 single base substitution G T intron_variant LUSC-KR 3 129215569 129215569 single base substitution G T downstream_gene_variant LUSC-KR 3 129215569 129215569 single base substitution G T intron_variant LUSC-KR 3 129218806 129218806 single base substitution G C 3_prime_UTR_variant LUSC-KR 3 129218806 129218806 single base substitution G C downstream_gene_variant LUSC-KR 3 129218806 129218806 single base substitution G C exon_variant LUSC-KR 3 129218806 129218806 single base substitution G C missense_variant W119S 356G>C LUSC-KR 3 129218806 129218806 single base substitution G C missense_variant W254S 761G>C LUSC-KR 3 129218806 129218806 single base substitution G C missense_variant W548S 1643G>C LUSC-KR 3 129218806 129218806 single base substitution G C missense_variant W607S 1820G>C LUSC-KR 3 129218806 129218806 single base substitution G C missense_variant W633S 1898G>C LUSC-KR 3 129218806 129218806 single base substitution G C missense_variant W646S 1937G>C LUSC-KR 3 129218806 129218806 single base substitution G C missense_variant W698S 2093G>C LUSC-KR 3 129218806 129218806 single base substitution G C missense_variant W749S 2246G>C LUSC-KR 3 129218806 129218806 single base substitution G C missense_variant W757S 2270G>C LUSC-KR 3 129218806 129218806 single base substitution G C missense_variant W808S 2423G>C LUSC-KR 3 129220087 129220087 single base substitution G A intron_variant LUSC-KR 3 129220702 129220702 single base substitution G T intron_variant LUSC-KR 3 129221763 129221763 single base substitution C T downstream_gene_variant LUSC-KR 3 129221763 129221763 single base substitution C T intron_variant LUSC-KR 3 129224067 129224067 single base substitution G T downstream_gene_variant LUSC-KR 3 129224067 129224067 single base substitution G T intron_variant LUSC-KR 3 129224539 129224539 single base substitution T C downstream_gene_variant LUSC-KR 3 129224539 129224539 single base substitution T C intron_variant LUSC-KR 3 129235175 129235175 single base substitution G C downstream_gene_variant LUSC-KR 3 129235175 129235175 single base substitution G C intron_variant LUSC-KR 3 129235704 129235704 single base substitution G A downstream_gene_variant LUSC-KR 3 129235704 129235704 single base substitution G A intron_variant LUSC-KR 3 129235928 129235928 single base substitution G C downstream_gene_variant LUSC-KR 3 129235928 129235928 single base substitution G C intron_variant LUSC-KR 3 129237138 129237138 single base substitution G T downstream_gene_variant LUSC-KR 3 129237138 129237138 single base substitution G T intron_variant LUSC-KR 3 129238933 129238933 single base substitution C T intron_variant LUSC-KR 3 129240828 129240828 single base substitution C A downstream_gene_variant LUSC-KR 3 129243565 129243565 single base substitution G T downstream_gene_variant LUSC-US 3 129183505 129183505 single base substitution G A 3_prime_UTR_variant LUSC-US 3 129183505 129183505 single base substitution G A 5_prime_UTR_variant LUSC-US 3 129183505 129183505 single base substitution G A downstream_gene_variant LUSC-US 3 129183505 129183505 single base substitution G A exon_variant LUSC-US 3 129183505 129183505 single base substitution G A intron_variant LUSC-US 3 129183505 129183505 single base substitution G A synonymous_variant A101A 303G>A LUSC-US 3 129183505 129183505 single base substitution G A synonymous_variant A148A 444G>A LUSC-US 3 129183505 129183505 single base substitution G A synonymous_variant A199A 597G>A LUSC-US 3 129183505 129183505 single base substitution G A synonymous_variant A96A 288G>A LUSC-US 3 129183505 129183505 single base substitution G A synonymous_variant A99A 297G>A LUSC-US 3 129207101 129207101 single base substitution C T 5_prime_UTR_variant LUSC-US 3 129207101 129207101 single base substitution C T downstream_gene_variant LUSC-US 3 129207101 129207101 single base substitution C T missense_variant S133F 398C>T LUSC-US 3 129207101 129207101 single base substitution C T missense_variant S409F 1226C>T LUSC-US 3 129207101 129207101 single base substitution C T missense_variant S468F 1403C>T LUSC-US 3 129207101 129207101 single base substitution C T missense_variant S507F 1520C>T LUSC-US 3 129207101 129207101 single base substitution C T missense_variant S512F 1535C>T LUSC-US 3 129207101 129207101 single base substitution C T missense_variant S559F 1676C>T LUSC-US 3 129207101 129207101 single base substitution C T missense_variant S610F 1829C>T LUSC-US 3 129207101 129207101 single base substitution C T missense_variant S618F 1853C>T LUSC-US 3 129207101 129207101 single base substitution C T missense_variant S669F 2006C>T LUSC-US 3 129207101 129207101 single base substitution C T splice_region_variant LUSC-US 3 129221605 129221605 single base substitution G T 3_prime_UTR_variant LUSC-US 3 129221605 129221605 single base substitution G T exon_variant LUSC-US 3 129221605 129221605 single base substitution G T synonymous_variant L171L 513G>T LUSC-US 3 129221605 129221605 single base substitution G T synonymous_variant L306L 918G>T LUSC-US 3 129221605 129221605 single base substitution G T synonymous_variant L600L 1800G>T LUSC-US 3 129221605 129221605 single base substitution G T synonymous_variant L659L 1977G>T LUSC-US 3 129221605 129221605 single base substitution G T synonymous_variant L685L 2055G>T LUSC-US 3 129221605 129221605 single base substitution G T synonymous_variant L698L 2094G>T LUSC-US 3 129221605 129221605 single base substitution G T synonymous_variant L750L 2250G>T LUSC-US 3 129221605 129221605 single base substitution G T synonymous_variant L801L 2403G>T LUSC-US 3 129221605 129221605 single base substitution G T synonymous_variant L809L 2427G>T LUSC-US 3 129221605 129221605 single base substitution G T synonymous_variant L860L 2580G>T LUSC-US 3 129225321 129225321 single base substitution C T 3_prime_UTR_variant LUSC-US 3 129225321 129225321 single base substitution C T downstream_gene_variant LUSC-US 3 129225321 129225321 single base substitution C T exon_variant LUSC-US 3 129225321 129225321 single base substitution C T missense_variant A698V 2093C>T LUSC-US 3 129225321 129225321 single base substitution C T missense_variant A757V 2270C>T LUSC-US 3 129225321 129225321 single base substitution C T missense_variant A783V 2348C>T LUSC-US 3 129225321 129225321 single base substitution C T missense_variant A796V 2387C>T LUSC-US 3 129225321 129225321 single base substitution C T missense_variant A848V 2543C>T LUSC-US 3 129225321 129225321 single base substitution C T missense_variant A899V 2696C>T LUSC-US 3 129225321 129225321 single base substitution C T missense_variant A907V 2720C>T LUSC-US 3 129225321 129225321 single base substitution C T missense_variant A958V 2873C>T LUSC-US 3 129226555 129226555 single base substitution C T 3_prime_UTR_variant LUSC-US 3 129226555 129226555 single base substitution C T downstream_gene_variant LUSC-US 3 129226555 129226555 single base substitution C T exon_variant LUSC-US 3 129226555 129226555 single base substitution C T stop_gained Q737* 2209C>T LUSC-US 3 129226555 129226555 single base substitution C T stop_gained Q796* 2386C>T LUSC-US 3 129226555 129226555 single base substitution C T stop_gained Q823* 2467C>T LUSC-US 3 129226555 129226555 single base substitution C T stop_gained Q836* 2506C>T LUSC-US 3 129226555 129226555 single base substitution C T stop_gained Q887* 2659C>T LUSC-US 3 129226555 129226555 single base substitution C T stop_gained Q939* 2815C>T LUSC-US 3 129226555 129226555 single base substitution C T stop_gained Q946* 2836C>T LUSC-US 3 129226555 129226555 single base substitution C T stop_gained Q997* 2989C>T LUSC-US 3 129226555 129226555 single base substitution C T upstream_gene_variant LUSC-US 3 129238477 129238477 single base substitution G C 3_prime_UTR_variant LUSC-US 3 129238477 129238477 single base substitution G C downstream_gene_variant LUSC-US 3 129238477 129238477 single base substitution G C exon_variant LUSC-US 3 129238477 129238477 single base substitution G C missense_variant D1030H 3088G>C LUSC-US 3 129238477 129238477 single base substitution G C missense_variant D1057H 3169G>C LUSC-US 3 129238477 129238477 single base substitution G C missense_variant D1070H 3208G>C LUSC-US 3 129238477 129238477 single base substitution G C missense_variant D1121H 3361G>C LUSC-US 3 129238477 129238477 single base substitution G C missense_variant D1173H 3517G>C LUSC-US 3 129238477 129238477 single base substitution G C missense_variant D1180H 3538G>C LUSC-US 3 129238477 129238477 single base substitution G C missense_variant D1231H 3691G>C LUSC-US 3 129238477 129238477 single base substitution G C missense_variant D971H 2911G>C MALY-DE 3 129156116 129156116 single base substitution A C upstream_gene_variant MALY-DE 3 129158292 129158292 single base substitution A G upstream_gene_variant MALY-DE 3 129167544 129167544 single base substitution T A intron_variant MALY-DE 3 129167544 129167544 single base substitution T A upstream_gene_variant MALY-DE 3 129168458 129168458 single base substitution G A intron_variant MALY-DE 3 129168458 129168458 single base substitution G A upstream_gene_variant MALY-DE 3 129178768 129178768 single base substitution T A intron_variant MALY-DE 3 129178768 129178768 single base substitution T A upstream_gene_variant MALY-DE 3 129181140 129181140 single base substitution A T downstream_gene_variant MALY-DE 3 129181140 129181140 single base substitution A T intron_variant MALY-DE 3 129181140 129181140 single base substitution A T upstream_gene_variant MALY-DE 3 129191994 129191994 single base substitution A G intron_variant MALY-DE 3 129191994 129191994 single base substitution A G upstream_gene_variant MALY-DE 3 129210836 129210836 single base substitution T G intron_variant MALY-DE 3 129210836 129210836 single base substitution T G upstream_gene_variant MALY-DE 3 129219510 129219510 single base substitution C T intron_variant MALY-DE 3 129221504 129221504 single base substitution C T intron_variant MALY-DE 3 129234822 129234823 deletion of <=200bp CA - downstream_gene_variant MALY-DE 3 129234822 129234823 deletion of <=200bp CA - intron_variant MALY-DE 3 129235130 129235131 deletion of <=200bp CA - downstream_gene_variant MALY-DE 3 129235130 129235131 deletion of <=200bp CA - intron_variant MALY-DE 3 129235833 129235834 deletion of <=200bp CA - downstream_gene_variant MALY-DE 3 129235833 129235834 deletion of <=200bp CA - intron_variant MALY-DE 3 129235883 129235884 deletion of <=200bp CA - downstream_gene_variant MALY-DE 3 129235883 129235884 deletion of <=200bp CA - intron_variant MALY-DE 3 129242336 129242336 single base substitution T C downstream_gene_variant MALY-DE 3 129242427 129242427 single base substitution T C downstream_gene_variant MELA-AU 3 129154793 129154793 single base substitution G A upstream_gene_variant MELA-AU 3 129154982 129154982 single base substitution G A upstream_gene_variant MELA-AU 3 129155146 129155146 single base substitution G A upstream_gene_variant MELA-AU 3 129155470 129155470 single base substitution G A upstream_gene_variant MELA-AU 3 129155540 129155540 single base substitution G A upstream_gene_variant MELA-AU 3 129156081 129156081 single base substitution G A upstream_gene_variant MELA-AU 3 129156092 129156092 single base substitution C T upstream_gene_variant MELA-AU 3 129156379 129156379 single base substitution G A upstream_gene_variant MELA-AU 3 129156405 129156405 single base substitution C T upstream_gene_variant MELA-AU 3 129156434 129156434 single base substitution A C upstream_gene_variant MELA-AU 3 129156944 129156945 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 129157004 129157004 single base substitution G A upstream_gene_variant MELA-AU 3 129157572 129157572 single base substitution G A upstream_gene_variant MELA-AU 3 129157975 129157975 single base substitution G A upstream_gene_variant MELA-AU 3 129158007 129158007 single base substitution G A upstream_gene_variant MELA-AU 3 129158538 129158538 single base substitution G A upstream_gene_variant MELA-AU 3 129158888 129158888 single base substitution G A upstream_gene_variant MELA-AU 3 129160003 129160003 single base substitution C T intron_variant MELA-AU 3 129160657 129160657 single base substitution T C intron_variant MELA-AU 3 129161047 129161047 single base substitution C T intron_variant MELA-AU 3 129161229 129161229 single base substitution G A intron_variant MELA-AU 3 129161425 129161425 single base substitution A C intron_variant MELA-AU 3 129161532 129161532 single base substitution C G intron_variant MELA-AU 3 129161662 129161662 single base substitution C T intron_variant MELA-AU 3 129162290 129162290 single base substitution C T intron_variant MELA-AU 3 129162353 129162353 single base substitution G A intron_variant MELA-AU 3 129162710 129162710 single base substitution C T intron_variant MELA-AU 3 129163928 129163928 single base substitution G A intron_variant MELA-AU 3 129163928 129163928 single base substitution G A upstream_gene_variant MELA-AU 3 129164591 129164591 single base substitution C A intron_variant MELA-AU 3 129164591 129164591 single base substitution C A upstream_gene_variant MELA-AU 3 129164618 129164618 single base substitution C T intron_variant MELA-AU 3 129164618 129164618 single base substitution C T upstream_gene_variant MELA-AU 3 129164799 129164799 single base substitution C T intron_variant MELA-AU 3 129164799 129164799 single base substitution C T upstream_gene_variant MELA-AU 3 129164864 129164864 single base substitution C T intron_variant MELA-AU 3 129164864 129164864 single base substitution C T upstream_gene_variant MELA-AU 3 129165076 129165076 single base substitution T C intron_variant MELA-AU 3 129165076 129165076 single base substitution T C upstream_gene_variant MELA-AU 3 129165170 129165170 single base substitution C T intron_variant MELA-AU 3 129165170 129165170 single base substitution C T upstream_gene_variant MELA-AU 3 129165369 129165369 single base substitution C T intron_variant MELA-AU 3 129165369 129165369 single base substitution C T upstream_gene_variant MELA-AU 3 129165429 129165429 single base substitution C T intron_variant MELA-AU 3 129165429 129165429 single base substitution C T upstream_gene_variant MELA-AU 3 129165681 129165681 single base substitution C T intron_variant MELA-AU 3 129165681 129165681 single base substitution C T upstream_gene_variant MELA-AU 3 129166478 129166478 single base substitution C T intron_variant MELA-AU 3 129166478 129166478 single base substitution C T upstream_gene_variant MELA-AU 3 129166974 129166974 single base substitution C T intron_variant MELA-AU 3 129166974 129166974 single base substitution C T upstream_gene_variant MELA-AU 3 129167228 129167229 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 129167228 129167229 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 129167566 129167566 single base substitution C T intron_variant MELA-AU 3 129167566 129167566 single base substitution C T upstream_gene_variant MELA-AU 3 129167569 129167569 single base substitution C T intron_variant MELA-AU 3 129167569 129167569 single base substitution C T upstream_gene_variant MELA-AU 3 129168321 129168321 single base substitution C T intron_variant MELA-AU 3 129168321 129168321 single base substitution C T upstream_gene_variant MELA-AU 3 129168522 129168522 single base substitution G A intron_variant MELA-AU 3 129168522 129168522 single base substitution G A upstream_gene_variant MELA-AU 3 129168663 129168663 single base substitution G C intron_variant MELA-AU 3 129168663 129168663 single base substitution G C upstream_gene_variant MELA-AU 3 129168825 129168825 single base substitution C T intron_variant MELA-AU 3 129169123 129169123 single base substitution G A intron_variant MELA-AU 3 129169654 129169654 single base substitution C T intron_variant MELA-AU 3 129169804 129169804 single base substitution C T intron_variant MELA-AU 3 129170901 129170901 single base substitution C T exon_variant MELA-AU 3 129170901 129170901 single base substitution C T intron_variant MELA-AU 3 129171521 129171521 single base substitution C T downstream_gene_variant MELA-AU 3 129171521 129171521 single base substitution C T intron_variant MELA-AU 3 129171913 129171913 single base substitution C T downstream_gene_variant MELA-AU 3 129171913 129171913 single base substitution C T intron_variant MELA-AU 3 129172363 129172363 single base substitution C T downstream_gene_variant MELA-AU 3 129172363 129172363 single base substitution C T intron_variant MELA-AU 3 129172883 129172883 single base substitution C T downstream_gene_variant MELA-AU 3 129172883 129172883 single base substitution C T intron_variant MELA-AU 3 129174493 129174493 single base substitution A T downstream_gene_variant MELA-AU 3 129174493 129174493 single base substitution A T intron_variant MELA-AU 3 129174955 129174955 single base substitution A G downstream_gene_variant MELA-AU 3 129174955 129174955 single base substitution A G intron_variant MELA-AU 3 129174955 129174955 single base substitution A G splice_acceptor_variant MELA-AU 3 129175813 129175813 single base substitution G A downstream_gene_variant MELA-AU 3 129175813 129175813 single base substitution G A intron_variant MELA-AU 3 129175813 129175813 single base substitution G A upstream_gene_variant MELA-AU 3 129176256 129176256 single base substitution C T intron_variant MELA-AU 3 129176256 129176256 single base substitution C T upstream_gene_variant MELA-AU 3 129176261 129176261 single base substitution C T intron_variant MELA-AU 3 129176261 129176261 single base substitution C T upstream_gene_variant MELA-AU 3 129176467 129176467 single base substitution C T intron_variant MELA-AU 3 129176467 129176467 single base substitution C T upstream_gene_variant MELA-AU 3 129178396 129178396 single base substitution C T intron_variant MELA-AU 3 129178396 129178396 single base substitution C T upstream_gene_variant MELA-AU 3 129178728 129178728 single base substitution C T intron_variant MELA-AU 3 129178728 129178728 single base substitution C T upstream_gene_variant MELA-AU 3 129178778 129178778 single base substitution T C intron_variant MELA-AU 3 129178778 129178778 single base substitution T C upstream_gene_variant MELA-AU 3 129179273 129179273 single base substitution C T intron_variant MELA-AU 3 129179273 129179273 single base substitution C T upstream_gene_variant MELA-AU 3 129180817 129180817 single base substitution T G downstream_gene_variant MELA-AU 3 129180817 129180817 single base substitution T G intron_variant MELA-AU 3 129180817 129180817 single base substitution T G upstream_gene_variant MELA-AU 3 129181121 129181121 single base substitution C T downstream_gene_variant MELA-AU 3 129181121 129181121 single base substitution C T intron_variant MELA-AU 3 129181121 129181121 single base substitution C T upstream_gene_variant MELA-AU 3 129181223 129181223 single base substitution C G downstream_gene_variant MELA-AU 3 129181223 129181223 single base substitution C G intron_variant MELA-AU 3 129181223 129181223 single base substitution C G upstream_gene_variant MELA-AU 3 129181898 129181898 single base substitution T A downstream_gene_variant MELA-AU 3 129181898 129181898 single base substitution T A intron_variant MELA-AU 3 129181898 129181898 single base substitution T A upstream_gene_variant MELA-AU 3 129182247 129182247 single base substitution C T downstream_gene_variant MELA-AU 3 129182247 129182247 single base substitution C T exon_variant MELA-AU 3 129182247 129182247 single base substitution C T intron_variant MELA-AU 3 129182946 129182946 single base substitution A G downstream_gene_variant MELA-AU 3 129182946 129182946 single base substitution A G intron_variant MELA-AU 3 129183630 129183630 single base substitution C T downstream_gene_variant MELA-AU 3 129183630 129183630 single base substitution C T intron_variant MELA-AU 3 129183630 129183630 single base substitution C T splice_region_variant MELA-AU 3 129184202 129184203 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 129184202 129184203 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 129184344 129184344 single base substitution C T downstream_gene_variant MELA-AU 3 129184344 129184344 single base substitution C T intron_variant MELA-AU 3 129184423 129184423 single base substitution C T downstream_gene_variant MELA-AU 3 129184423 129184423 single base substitution C T intron_variant MELA-AU 3 129184910 129184910 single base substitution C T downstream_gene_variant MELA-AU 3 129184910 129184910 single base substitution C T intron_variant MELA-AU 3 129184989 129184989 single base substitution C T downstream_gene_variant MELA-AU 3 129184989 129184989 single base substitution C T intron_variant MELA-AU 3 129185293 129185293 single base substitution C T downstream_gene_variant MELA-AU 3 129185293 129185293 single base substitution C T intron_variant MELA-AU 3 129185429 129185429 single base substitution C T downstream_gene_variant MELA-AU 3 129185429 129185429 single base substitution C T intron_variant MELA-AU 3 129185436 129185436 single base substitution C T downstream_gene_variant MELA-AU 3 129185436 129185436 single base substitution C T intron_variant MELA-AU 3 129185579 129185579 single base substitution C T downstream_gene_variant MELA-AU 3 129185579 129185579 single base substitution C T intron_variant MELA-AU 3 129185920 129185920 single base substitution C T downstream_gene_variant MELA-AU 3 129185920 129185920 single base substitution C T intron_variant MELA-AU 3 129186279 129186279 single base substitution C T downstream_gene_variant MELA-AU 3 129186279 129186279 single base substitution C T intron_variant MELA-AU 3 129186447 129186447 single base substitution C T downstream_gene_variant MELA-AU 3 129186447 129186447 single base substitution C T intron_variant MELA-AU 3 129186587 129186587 single base substitution C T downstream_gene_variant MELA-AU 3 129186587 129186587 single base substitution C T intron_variant MELA-AU 3 129186666 129186666 single base substitution C T downstream_gene_variant MELA-AU 3 129186666 129186666 single base substitution C T intron_variant MELA-AU 3 129187280 129187280 single base substitution G A downstream_gene_variant MELA-AU 3 129187280 129187280 single base substitution G A intron_variant MELA-AU 3 129187444 129187444 single base substitution C T downstream_gene_variant MELA-AU 3 129187444 129187444 single base substitution C T intron_variant MELA-AU 3 129187550 129187550 single base substitution C T downstream_gene_variant MELA-AU 3 129187550 129187550 single base substitution C T intron_variant MELA-AU 3 129187835 129187835 single base substitution G A downstream_gene_variant MELA-AU 3 129187835 129187835 single base substitution G A intron_variant MELA-AU 3 129189110 129189110 single base substitution T C intron_variant MELA-AU 3 129190213 129190213 single base substitution C T intron_variant MELA-AU 3 129190213 129190213 single base substitution C T upstream_gene_variant MELA-AU 3 129190363 129190363 single base substitution G A intron_variant MELA-AU 3 129190363 129190363 single base substitution G A upstream_gene_variant MELA-AU 3 129190589 129190589 single base substitution C T intron_variant MELA-AU 3 129190589 129190589 single base substitution C T upstream_gene_variant MELA-AU 3 129190612 129190612 single base substitution C T intron_variant MELA-AU 3 129190612 129190612 single base substitution C T upstream_gene_variant MELA-AU 3 129190773 129190773 single base substitution C T intron_variant MELA-AU 3 129190773 129190773 single base substitution C T upstream_gene_variant MELA-AU 3 129190774 129190774 single base substitution C T intron_variant MELA-AU 3 129190774 129190774 single base substitution C T upstream_gene_variant MELA-AU 3 129191297 129191297 single base substitution C T intron_variant MELA-AU 3 129191297 129191297 single base substitution C T upstream_gene_variant MELA-AU 3 129191518 129191518 single base substitution C T intron_variant MELA-AU 3 129191518 129191518 single base substitution C T upstream_gene_variant MELA-AU 3 129191626 129191626 single base substitution C T intron_variant MELA-AU 3 129191626 129191626 single base substitution C T upstream_gene_variant MELA-AU 3 129191704 129191704 single base substitution C T intron_variant MELA-AU 3 129191704 129191704 single base substitution C T upstream_gene_variant MELA-AU 3 129191783 129191783 single base substitution C T intron_variant MELA-AU 3 129191783 129191783 single base substitution C T upstream_gene_variant MELA-AU 3 129192502 129192502 single base substitution G T intron_variant MELA-AU 3 129192502 129192502 single base substitution G T upstream_gene_variant MELA-AU 3 129192756 129192756 single base substitution C T intron_variant MELA-AU 3 129192756 129192756 single base substitution C T upstream_gene_variant MELA-AU 3 129193178 129193178 single base substitution C T intron_variant MELA-AU 3 129193178 129193178 single base substitution C T upstream_gene_variant MELA-AU 3 129193448 129193448 single base substitution C T intron_variant MELA-AU 3 129193448 129193448 single base substitution C T upstream_gene_variant MELA-AU 3 129194036 129194036 single base substitution C T intron_variant MELA-AU 3 129194036 129194036 single base substitution C T upstream_gene_variant MELA-AU 3 129194084 129194084 single base substitution C A intron_variant MELA-AU 3 129194084 129194084 single base substitution C A upstream_gene_variant MELA-AU 3 129194152 129194152 single base substitution T A intron_variant MELA-AU 3 129194152 129194152 single base substitution T A upstream_gene_variant MELA-AU 3 129194170 129194170 single base substitution C T intron_variant MELA-AU 3 129194170 129194170 single base substitution C T upstream_gene_variant MELA-AU 3 129194863 129194863 single base substitution C T intron_variant MELA-AU 3 129194863 129194863 single base substitution C T upstream_gene_variant MELA-AU 3 129195478 129195478 single base substitution G T downstream_gene_variant MELA-AU 3 129195478 129195478 single base substitution G T intron_variant MELA-AU 3 129195478 129195478 single base substitution G T upstream_gene_variant MELA-AU 3 129195611 129195611 single base substitution G A 3_prime_UTR_variant MELA-AU 3 129195611 129195611 single base substitution G A downstream_gene_variant MELA-AU 3 129195611 129195611 single base substitution G A exon_variant MELA-AU 3 129195611 129195611 single base substitution G A missense_variant V163I 487G>A MELA-AU 3 129195611 129195611 single base substitution G A missense_variant V198I 592G>A MELA-AU 3 129195611 129195611 single base substitution G A missense_variant V222I 664G>A MELA-AU 3 129195611 129195611 single base substitution G A missense_variant V261I 781G>A MELA-AU 3 129195611 129195611 single base substitution G A missense_variant V266I 796G>A MELA-AU 3 129195611 129195611 single base substitution G A missense_variant V313I 937G>A MELA-AU 3 129195611 129195611 single base substitution G A missense_variant V364I 1090G>A MELA-AU 3 129195611 129195611 single base substitution G A missense_variant V372I 1114G>A MELA-AU 3 129195611 129195611 single base substitution G A missense_variant V423I 1267G>A MELA-AU 3 129195611 129195611 single base substitution G A upstream_gene_variant MELA-AU 3 129195832 129195832 single base substitution C T downstream_gene_variant MELA-AU 3 129195832 129195832 single base substitution C T intron_variant MELA-AU 3 129195832 129195832 single base substitution C T upstream_gene_variant MELA-AU 3 129195929 129195929 single base substitution G A downstream_gene_variant MELA-AU 3 129195929 129195929 single base substitution G A intron_variant MELA-AU 3 129195929 129195929 single base substitution G A upstream_gene_variant MELA-AU 3 129196486 129196486 single base substitution C T downstream_gene_variant MELA-AU 3 129196486 129196486 single base substitution C T intron_variant MELA-AU 3 129196486 129196486 single base substitution C T upstream_gene_variant MELA-AU 3 129197003 129197003 single base substitution T C 3_prime_UTR_variant MELA-AU 3 129197003 129197003 single base substitution T C downstream_gene_variant MELA-AU 3 129197003 129197003 single base substitution T C exon_variant MELA-AU 3 129197003 129197003 single base substitution T C missense_variant I222T 665T>C MELA-AU 3 129197003 129197003 single base substitution T C missense_variant I257T 770T>C MELA-AU 3 129197003 129197003 single base substitution T C missense_variant I281T 842T>C MELA-AU 3 129197003 129197003 single base substitution T C missense_variant I320T 959T>C MELA-AU 3 129197003 129197003 single base substitution T C missense_variant I325T 974T>C MELA-AU 3 129197003 129197003 single base substitution T C missense_variant I372T 1115T>C MELA-AU 3 129197003 129197003 single base substitution T C missense_variant I423T 1268T>C MELA-AU 3 129197003 129197003 single base substitution T C missense_variant I431T 1292T>C MELA-AU 3 129197003 129197003 single base substitution T C missense_variant I482T 1445T>C MELA-AU 3 129197003 129197003 single base substitution T C upstream_gene_variant MELA-AU 3 129197410 129197410 single base substitution C T downstream_gene_variant MELA-AU 3 129197410 129197410 single base substitution C T intron_variant MELA-AU 3 129197410 129197410 single base substitution C T upstream_gene_variant MELA-AU 3 129198013 129198013 single base substitution C T downstream_gene_variant MELA-AU 3 129198013 129198013 single base substitution C T intron_variant MELA-AU 3 129198013 129198013 single base substitution C T upstream_gene_variant MELA-AU 3 129198443 129198443 single base substitution C T downstream_gene_variant MELA-AU 3 129198443 129198443 single base substitution C T intron_variant MELA-AU 3 129198443 129198443 single base substitution C T upstream_gene_variant MELA-AU 3 129198601 129198601 single base substitution C T downstream_gene_variant MELA-AU 3 129198601 129198601 single base substitution C T intron_variant MELA-AU 3 129198601 129198601 single base substitution C T upstream_gene_variant MELA-AU 3 129198877 129198877 single base substitution C T downstream_gene_variant MELA-AU 3 129198877 129198877 single base substitution C T intron_variant MELA-AU 3 129198877 129198877 single base substitution C T upstream_gene_variant MELA-AU 3 129199098 129199098 single base substitution C T downstream_gene_variant MELA-AU 3 129199098 129199098 single base substitution C T intron_variant MELA-AU 3 129199098 129199098 single base substitution C T upstream_gene_variant MELA-AU 3 129200021 129200021 single base substitution C T downstream_gene_variant MELA-AU 3 129200021 129200021 single base substitution C T intron_variant MELA-AU 3 129200021 129200021 single base substitution C T upstream_gene_variant MELA-AU 3 129200134 129200134 single base substitution T A downstream_gene_variant MELA-AU 3 129200134 129200134 single base substitution T A intron_variant MELA-AU 3 129200134 129200134 single base substitution T A upstream_gene_variant MELA-AU 3 129200356 129200356 single base substitution C T downstream_gene_variant MELA-AU 3 129200356 129200356 single base substitution C T exon_variant MELA-AU 3 129200356 129200356 single base substitution C T intron_variant MELA-AU 3 129200356 129200356 single base substitution C T upstream_gene_variant MELA-AU 3 129200531 129200531 single base substitution T A 3_prime_UTR_variant MELA-AU 3 129200531 129200531 single base substitution T A downstream_gene_variant MELA-AU 3 129200531 129200531 single base substitution T A exon_variant MELA-AU 3 129200531 129200531 single base substitution T A synonymous_variant L340L 1020T>A MELA-AU 3 129200531 129200531 single base substitution T A synonymous_variant L399L 1197T>A MELA-AU 3 129200531 129200531 single base substitution T A synonymous_variant L438L 1314T>A MELA-AU 3 129200531 129200531 single base substitution T A synonymous_variant L443L 1329T>A MELA-AU 3 129200531 129200531 single base substitution T A synonymous_variant L490L 1470T>A MELA-AU 3 129200531 129200531 single base substitution T A synonymous_variant L541L 1623T>A MELA-AU 3 129200531 129200531 single base substitution T A synonymous_variant L549L 1647T>A MELA-AU 3 129200531 129200531 single base substitution T A synonymous_variant L600L 1800T>A MELA-AU 3 129200531 129200531 single base substitution T A synonymous_variant L64L 192T>A MELA-AU 3 129200880 129200880 single base substitution G A downstream_gene_variant MELA-AU 3 129200880 129200880 single base substitution G A intron_variant MELA-AU 3 129201158 129201158 single base substitution C T downstream_gene_variant MELA-AU 3 129201158 129201158 single base substitution C T intron_variant MELA-AU 3 129201559 129201559 single base substitution C T downstream_gene_variant MELA-AU 3 129201559 129201559 single base substitution C T intron_variant MELA-AU 3 129201559 129201559 single base substitution C T upstream_gene_variant MELA-AU 3 129201598 129201598 single base substitution C T downstream_gene_variant MELA-AU 3 129201598 129201598 single base substitution C T intron_variant MELA-AU 3 129201598 129201598 single base substitution C T upstream_gene_variant MELA-AU 3 129202693 129202693 single base substitution C T downstream_gene_variant MELA-AU 3 129202693 129202693 single base substitution C T exon_variant MELA-AU 3 129202693 129202693 single base substitution C T intron_variant MELA-AU 3 129202693 129202693 single base substitution C T upstream_gene_variant MELA-AU 3 129202778 129202778 single base substitution G A downstream_gene_variant MELA-AU 3 129202778 129202778 single base substitution G A intron_variant MELA-AU 3 129202778 129202778 single base substitution G A upstream_gene_variant MELA-AU 3 129202861 129202861 single base substitution C T downstream_gene_variant MELA-AU 3 129202861 129202861 single base substitution C T intron_variant MELA-AU 3 129202861 129202861 single base substitution C T upstream_gene_variant MELA-AU 3 129202968 129202968 single base substitution C T downstream_gene_variant MELA-AU 3 129202968 129202968 single base substitution C T intron_variant MELA-AU 3 129202968 129202968 single base substitution C T upstream_gene_variant MELA-AU 3 129203747 129203747 single base substitution C T downstream_gene_variant MELA-AU 3 129203747 129203747 single base substitution C T intron_variant MELA-AU 3 129203747 129203747 single base substitution C T upstream_gene_variant MELA-AU 3 129203988 129203988 single base substitution G A downstream_gene_variant MELA-AU 3 129203988 129203988 single base substitution G A intron_variant MELA-AU 3 129203988 129203988 single base substitution G A upstream_gene_variant MELA-AU 3 129204105 129204105 single base substitution C T downstream_gene_variant MELA-AU 3 129204105 129204105 single base substitution C T intron_variant MELA-AU 3 129204105 129204105 single base substitution C T upstream_gene_variant MELA-AU 3 129204114 129204114 single base substitution C T downstream_gene_variant MELA-AU 3 129204114 129204114 single base substitution C T intron_variant MELA-AU 3 129204114 129204114 single base substitution C T upstream_gene_variant MELA-AU 3 129204281 129204281 single base substitution G A downstream_gene_variant MELA-AU 3 129204281 129204281 single base substitution G A intron_variant MELA-AU 3 129204281 129204281 single base substitution G A upstream_gene_variant MELA-AU 3 129204434 129204434 single base substitution C T downstream_gene_variant MELA-AU 3 129204434 129204434 single base substitution C T intron_variant MELA-AU 3 129204434 129204434 single base substitution C T upstream_gene_variant MELA-AU 3 129204738 129204738 single base substitution C T downstream_gene_variant MELA-AU 3 129204738 129204738 single base substitution C T intron_variant MELA-AU 3 129204738 129204738 single base substitution C T upstream_gene_variant MELA-AU 3 129205519 129205519 single base substitution G A downstream_gene_variant MELA-AU 3 129205519 129205519 single base substitution G A intron_variant MELA-AU 3 129205519 129205519 single base substitution G A upstream_gene_variant MELA-AU 3 129206061 129206062 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 129206061 129206062 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 129206061 129206062 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 129206391 129206391 single base substitution G A downstream_gene_variant MELA-AU 3 129206391 129206391 single base substitution G A exon_variant MELA-AU 3 129206391 129206391 single base substitution G A intron_variant MELA-AU 3 129206391 129206391 single base substitution G A upstream_gene_variant MELA-AU 3 129206691 129206691 single base substitution C T downstream_gene_variant MELA-AU 3 129206691 129206691 single base substitution C T exon_variant MELA-AU 3 129206691 129206691 single base substitution C T intron_variant MELA-AU 3 129206691 129206691 single base substitution C T upstream_gene_variant MELA-AU 3 129207080 129207080 single base substitution C T 5_prime_UTR_variant MELA-AU 3 129207080 129207080 single base substitution C T downstream_gene_variant MELA-AU 3 129207080 129207080 single base substitution C T intron_variant MELA-AU 3 129207996 129207996 single base substitution C T intron_variant MELA-AU 3 129208420 129208420 single base substitution G A intron_variant MELA-AU 3 129210164 129210164 single base substitution C T intron_variant MELA-AU 3 129210164 129210164 single base substitution C T upstream_gene_variant MELA-AU 3 129211058 129211058 single base substitution C T intron_variant MELA-AU 3 129211058 129211058 single base substitution C T upstream_gene_variant MELA-AU 3 129211571 129211571 single base substitution C T intron_variant MELA-AU 3 129211571 129211571 single base substitution C T upstream_gene_variant MELA-AU 3 129211572 129211572 single base substitution C T intron_variant MELA-AU 3 129211572 129211572 single base substitution C T upstream_gene_variant MELA-AU 3 129211677 129211677 single base substitution T C intron_variant MELA-AU 3 129211677 129211677 single base substitution T C upstream_gene_variant MELA-AU 3 129211701 129211701 single base substitution C T intron_variant MELA-AU 3 129211701 129211701 single base substitution C T upstream_gene_variant MELA-AU 3 129211784 129211784 single base substitution C T intron_variant MELA-AU 3 129211784 129211784 single base substitution C T upstream_gene_variant MELA-AU 3 129211923 129211923 single base substitution A T intron_variant MELA-AU 3 129211923 129211923 single base substitution A T upstream_gene_variant MELA-AU 3 129212142 129212142 single base substitution C T intron_variant MELA-AU 3 129212142 129212142 single base substitution C T upstream_gene_variant MELA-AU 3 129212358 129212358 single base substitution T C intron_variant MELA-AU 3 129212358 129212358 single base substitution T C upstream_gene_variant MELA-AU 3 129212384 129212384 single base substitution C T intron_variant MELA-AU 3 129212384 129212384 single base substitution C T upstream_gene_variant MELA-AU 3 129212506 129212506 single base substitution G A intron_variant MELA-AU 3 129212506 129212506 single base substitution G A upstream_gene_variant MELA-AU 3 129212763 129212763 single base substitution G A intron_variant MELA-AU 3 129212763 129212763 single base substitution G A upstream_gene_variant MELA-AU 3 129212969 129212969 single base substitution C T intron_variant MELA-AU 3 129212969 129212969 single base substitution C T upstream_gene_variant MELA-AU 3 129213017 129213017 single base substitution C T intron_variant MELA-AU 3 129213017 129213017 single base substitution C T upstream_gene_variant MELA-AU 3 129213904 129213904 single base substitution C T intron_variant MELA-AU 3 129213904 129213904 single base substitution C T upstream_gene_variant MELA-AU 3 129214369 129214369 single base substitution C T 3_prime_UTR_variant MELA-AU 3 129214369 129214369 single base substitution C T downstream_gene_variant MELA-AU 3 129214369 129214369 single base substitution C T exon_variant MELA-AU 3 129214369 129214369 single base substitution C T intron_variant MELA-AU 3 129214369 129214369 single base substitution C T synonymous_variant A206A 618C>T MELA-AU 3 129214369 129214369 single base substitution C T synonymous_variant A500A 1500C>T MELA-AU 3 129214369 129214369 single base substitution C T synonymous_variant A559A 1677C>T MELA-AU 3 129214369 129214369 single base substitution C T synonymous_variant A585A 1755C>T MELA-AU 3 129214369 129214369 single base substitution C T synonymous_variant A598A 1794C>T MELA-AU 3 129214369 129214369 single base substitution C T synonymous_variant A650A 1950C>T MELA-AU 3 129214369 129214369 single base substitution C T synonymous_variant A701A 2103C>T MELA-AU 3 129214369 129214369 single base substitution C T synonymous_variant A709A 2127C>T MELA-AU 3 129214369 129214369 single base substitution C T synonymous_variant A71A 213C>T MELA-AU 3 129214369 129214369 single base substitution C T synonymous_variant A760A 2280C>T MELA-AU 3 129214528 129214528 single base substitution C T downstream_gene_variant MELA-AU 3 129214528 129214528 single base substitution C T intron_variant MELA-AU 3 129214639 129214639 single base substitution C T downstream_gene_variant MELA-AU 3 129214639 129214639 single base substitution C T intron_variant MELA-AU 3 129215413 129215413 single base substitution C T downstream_gene_variant MELA-AU 3 129215413 129215413 single base substitution C T intron_variant MELA-AU 3 129215601 129215601 single base substitution T A downstream_gene_variant MELA-AU 3 129215601 129215601 single base substitution T A intron_variant MELA-AU 3 129215622 129215622 single base substitution C T downstream_gene_variant MELA-AU 3 129215622 129215622 single base substitution C T intron_variant MELA-AU 3 129216578 129216578 single base substitution C T downstream_gene_variant MELA-AU 3 129216578 129216578 single base substitution C T intron_variant MELA-AU 3 129216698 129216698 single base substitution C T downstream_gene_variant MELA-AU 3 129216698 129216698 single base substitution C T intron_variant MELA-AU 3 129217175 129217175 single base substitution C T downstream_gene_variant MELA-AU 3 129217175 129217175 single base substitution C T intron_variant MELA-AU 3 129218750 129218750 single base substitution C T 3_prime_UTR_variant MELA-AU 3 129218750 129218750 single base substitution C T downstream_gene_variant MELA-AU 3 129218750 129218750 single base substitution C T exon_variant MELA-AU 3 129218750 129218750 single base substitution C T synonymous_variant F100F 300C>T MELA-AU 3 129218750 129218750 single base substitution C T synonymous_variant F235F 705C>T MELA-AU 3 129218750 129218750 single base substitution C T synonymous_variant F529F 1587C>T MELA-AU 3 129218750 129218750 single base substitution C T synonymous_variant F588F 1764C>T MELA-AU 3 129218750 129218750 single base substitution C T synonymous_variant F614F 1842C>T MELA-AU 3 129218750 129218750 single base substitution C T synonymous_variant F627F 1881C>T MELA-AU 3 129218750 129218750 single base substitution C T synonymous_variant F679F 2037C>T MELA-AU 3 129218750 129218750 single base substitution C T synonymous_variant F730F 2190C>T MELA-AU 3 129218750 129218750 single base substitution C T synonymous_variant F738F 2214C>T MELA-AU 3 129218750 129218750 single base substitution C T synonymous_variant F789F 2367C>T MELA-AU 3 129218930 129218930 single base substitution C T downstream_gene_variant MELA-AU 3 129218930 129218930 single base substitution C T intron_variant MELA-AU 3 129219184 129219184 single base substitution C T downstream_gene_variant MELA-AU 3 129219184 129219184 single base substitution C T intron_variant MELA-AU 3 129219243 129219243 single base substitution C T downstream_gene_variant MELA-AU 3 129219243 129219243 single base substitution C T intron_variant MELA-AU 3 129219353 129219353 single base substitution G A intron_variant MELA-AU 3 129219466 129219466 single base substitution C T intron_variant MELA-AU 3 129220012 129220012 single base substitution C T intron_variant MELA-AU 3 129220269 129220269 single base substitution C T intron_variant MELA-AU 3 129220947 129220947 single base substitution C T intron_variant MELA-AU 3 129221544 129221544 single base substitution C T intron_variant MELA-AU 3 129221661 129221661 single base substitution A G 3_prime_UTR_variant MELA-AU 3 129221661 129221661 single base substitution A G downstream_gene_variant MELA-AU 3 129221661 129221661 single base substitution A G exon_variant MELA-AU 3 129221661 129221661 single base substitution A G missense_variant Y325C 974A>G MELA-AU 3 129221661 129221661 single base substitution A G missense_variant Y619C 1856A>G MELA-AU 3 129221661 129221661 single base substitution A G missense_variant Y678C 2033A>G MELA-AU 3 129221661 129221661 single base substitution A G missense_variant Y704C 2111A>G MELA-AU 3 129221661 129221661 single base substitution A G missense_variant Y717C 2150A>G MELA-AU 3 129221661 129221661 single base substitution A G missense_variant Y769C 2306A>G MELA-AU 3 129221661 129221661 single base substitution A G missense_variant Y820C 2459A>G MELA-AU 3 129221661 129221661 single base substitution A G missense_variant Y828C 2483A>G MELA-AU 3 129221661 129221661 single base substitution A G missense_variant Y879C 2636A>G MELA-AU 3 129221686 129221686 single base substitution C T 3_prime_UTR_variant MELA-AU 3 129221686 129221686 single base substitution C T downstream_gene_variant MELA-AU 3 129221686 129221686 single base substitution C T exon_variant MELA-AU 3 129221686 129221686 single base substitution C T synonymous_variant S333S 999C>T MELA-AU 3 129221686 129221686 single base substitution C T synonymous_variant S627S 1881C>T MELA-AU 3 129221686 129221686 single base substitution C T synonymous_variant S686S 2058C>T MELA-AU 3 129221686 129221686 single base substitution C T synonymous_variant S712S 2136C>T MELA-AU 3 129221686 129221686 single base substitution C T synonymous_variant S725S 2175C>T MELA-AU 3 129221686 129221686 single base substitution C T synonymous_variant S777S 2331C>T MELA-AU 3 129221686 129221686 single base substitution C T synonymous_variant S828S 2484C>T MELA-AU 3 129221686 129221686 single base substitution C T synonymous_variant S836S 2508C>T MELA-AU 3 129221686 129221686 single base substitution C T synonymous_variant S887S 2661C>T MELA-AU 3 129222148 129222148 single base substitution C T downstream_gene_variant MELA-AU 3 129222148 129222148 single base substitution C T intron_variant MELA-AU 3 129222194 129222194 single base substitution C T downstream_gene_variant MELA-AU 3 129222194 129222194 single base substitution C T intron_variant MELA-AU 3 129222336 129222336 single base substitution C T downstream_gene_variant MELA-AU 3 129222336 129222336 single base substitution C T intron_variant MELA-AU 3 129222815 129222815 single base substitution C T downstream_gene_variant MELA-AU 3 129222815 129222815 single base substitution C T intron_variant MELA-AU 3 129222816 129222816 single base substitution C T downstream_gene_variant MELA-AU 3 129222816 129222816 single base substitution C T intron_variant MELA-AU 3 129222895 129222895 single base substitution C T downstream_gene_variant MELA-AU 3 129222895 129222895 single base substitution C T intron_variant MELA-AU 3 129223143 129223143 single base substitution C T downstream_gene_variant MELA-AU 3 129223143 129223143 single base substitution C T intron_variant MELA-AU 3 129223707 129223707 single base substitution C T downstream_gene_variant MELA-AU 3 129223707 129223707 single base substitution C T intron_variant MELA-AU 3 129223861 129223861 single base substitution C T downstream_gene_variant MELA-AU 3 129223861 129223861 single base substitution C T intron_variant MELA-AU 3 129223934 129223934 single base substitution C T downstream_gene_variant MELA-AU 3 129223934 129223934 single base substitution C T intron_variant MELA-AU 3 129224029 129224029 single base substitution C T downstream_gene_variant MELA-AU 3 129224029 129224029 single base substitution C T intron_variant MELA-AU 3 129224676 129224676 single base substitution G A downstream_gene_variant MELA-AU 3 129224676 129224676 single base substitution G A intron_variant MELA-AU 3 129224800 129224800 single base substitution C T downstream_gene_variant MELA-AU 3 129224800 129224800 single base substitution C T intron_variant MELA-AU 3 129224855 129224855 single base substitution C T downstream_gene_variant MELA-AU 3 129224855 129224855 single base substitution C T intron_variant MELA-AU 3 129224945 129224945 single base substitution A T downstream_gene_variant MELA-AU 3 129224945 129224945 single base substitution A T intron_variant MELA-AU 3 129225003 129225003 single base substitution C T downstream_gene_variant MELA-AU 3 129225003 129225003 single base substitution C T intron_variant MELA-AU 3 129225392 129225393 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 129225392 129225393 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant A807T 2419G>A MELA-AU 3 129225392 129225393 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant A820T 2458G>A MELA-AU 3 129225392 129225393 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant A923T 2767G>A MELA-AU 3 129225392 129225393 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant D722N 2164G>A MELA-AU 3 129225392 129225393 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant D781N 2341G>A MELA-AU 3 129225392 129225393 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant D872N 2614G>A MELA-AU 3 129225392 129225393 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant D931N 2791G>A MELA-AU 3 129225392 129225393 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant D982N 2944G>A MELA-AU 3 129225392 129225393 multiple base substitution (>=2bp and <=200bp) GG AA splice_donor_variant MELA-AU 3 129225800 129225800 single base substitution C T downstream_gene_variant MELA-AU 3 129225800 129225800 single base substitution C T intron_variant MELA-AU 3 129225856 129225856 single base substitution G T downstream_gene_variant MELA-AU 3 129225856 129225856 single base substitution G T intron_variant MELA-AU 3 129226220 129226221 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 129226220 129226221 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 129226220 129226221 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 129226441 129226441 single base substitution C T downstream_gene_variant MELA-AU 3 129226441 129226441 single base substitution C T intron_variant MELA-AU 3 129226441 129226441 single base substitution C T upstream_gene_variant MELA-AU 3 129227035 129227035 single base substitution C T downstream_gene_variant MELA-AU 3 129227035 129227035 single base substitution C T intron_variant MELA-AU 3 129227035 129227035 single base substitution C T upstream_gene_variant MELA-AU 3 129227067 129227067 single base substitution C T downstream_gene_variant MELA-AU 3 129227067 129227067 single base substitution C T intron_variant MELA-AU 3 129227067 129227067 single base substitution C T upstream_gene_variant MELA-AU 3 129227353 129227353 single base substitution G A downstream_gene_variant MELA-AU 3 129227353 129227353 single base substitution G A intron_variant MELA-AU 3 129227353 129227353 single base substitution G A upstream_gene_variant MELA-AU 3 129227791 129227791 single base substitution C T downstream_gene_variant MELA-AU 3 129227791 129227791 single base substitution C T intron_variant MELA-AU 3 129227791 129227791 single base substitution C T upstream_gene_variant MELA-AU 3 129228056 129228056 single base substitution C T downstream_gene_variant MELA-AU 3 129228056 129228056 single base substitution C T intron_variant MELA-AU 3 129228056 129228056 single base substitution C T upstream_gene_variant MELA-AU 3 129228099 129228099 single base substitution C T downstream_gene_variant MELA-AU 3 129228099 129228099 single base substitution C T intron_variant MELA-AU 3 129228099 129228099 single base substitution C T upstream_gene_variant MELA-AU 3 129229126 129229126 single base substitution C T intron_variant MELA-AU 3 129229126 129229126 single base substitution C T upstream_gene_variant MELA-AU 3 129229261 129229261 single base substitution G A intron_variant MELA-AU 3 129229261 129229261 single base substitution G A upstream_gene_variant MELA-AU 3 129229517 129229517 single base substitution C T intron_variant MELA-AU 3 129229517 129229517 single base substitution C T upstream_gene_variant MELA-AU 3 129229800 129229800 single base substitution C T intron_variant MELA-AU 3 129229800 129229800 single base substitution C T upstream_gene_variant MELA-AU 3 129229923 129229923 single base substitution T C intron_variant MELA-AU 3 129229923 129229923 single base substitution T C upstream_gene_variant MELA-AU 3 129230050 129230050 single base substitution G T intron_variant MELA-AU 3 129230050 129230050 single base substitution G T upstream_gene_variant MELA-AU 3 129230467 129230467 single base substitution C T intron_variant MELA-AU 3 129230467 129230467 single base substitution C T upstream_gene_variant MELA-AU 3 129230468 129230468 single base substitution C T intron_variant MELA-AU 3 129230468 129230468 single base substitution C T upstream_gene_variant MELA-AU 3 129231260 129231260 single base substitution C T exon_variant MELA-AU 3 129231260 129231260 single base substitution C T intron_variant MELA-AU 3 129231260 129231260 single base substitution C T splice_region_variant MELA-AU 3 129231310 129231310 single base substitution C T exon_variant MELA-AU 3 129231310 129231310 single base substitution C T intron_variant MELA-AU 3 129231391 129231391 single base substitution C T exon_variant MELA-AU 3 129231391 129231391 single base substitution C T intron_variant MELA-AU 3 129231518 129231518 single base substitution C T exon_variant MELA-AU 3 129231518 129231518 single base substitution C T intron_variant MELA-AU 3 129231645 129231645 single base substitution C T exon_variant MELA-AU 3 129231645 129231645 single base substitution C T intron_variant MELA-AU 3 129232129 129232129 single base substitution C T exon_variant MELA-AU 3 129232129 129232129 single base substitution C T intron_variant MELA-AU 3 129232182 129232182 single base substitution C T exon_variant MELA-AU 3 129232182 129232182 single base substitution C T intron_variant MELA-AU 3 129232344 129232344 single base substitution C T exon_variant MELA-AU 3 129232344 129232344 single base substitution C T intron_variant MELA-AU 3 129232512 129232512 single base substitution C T exon_variant MELA-AU 3 129232512 129232512 single base substitution C T intron_variant MELA-AU 3 129232851 129232851 single base substitution C T exon_variant MELA-AU 3 129232851 129232851 single base substitution C T intron_variant MELA-AU 3 129233244 129233244 single base substitution C T 3_prime_UTR_variant MELA-AU 3 129233244 129233244 single base substitution C T exon_variant MELA-AU 3 129233244 129233244 single base substitution C T synonymous_variant F1000F 3000C>T MELA-AU 3 129233244 129233244 single base substitution C T synonymous_variant F1051F 3153C>T MELA-AU 3 129233244 129233244 single base substitution C T synonymous_variant F791F 2373C>T MELA-AU 3 129233244 129233244 single base substitution C T synonymous_variant F850F 2550C>T MELA-AU 3 129233244 129233244 single base substitution C T synonymous_variant F877F 2631C>T MELA-AU 3 129233244 129233244 single base substitution C T synonymous_variant F890F 2670C>T MELA-AU 3 129233244 129233244 single base substitution C T synonymous_variant F941F 2823C>T MELA-AU 3 129233244 129233244 single base substitution C T synonymous_variant F993F 2979C>T MELA-AU 3 129233548 129233548 single base substitution C T exon_variant MELA-AU 3 129233548 129233548 single base substitution C T intron_variant MELA-AU 3 129233807 129233807 single base substitution C T downstream_gene_variant MELA-AU 3 129233807 129233807 single base substitution C T exon_variant MELA-AU 3 129233807 129233807 single base substitution C T intron_variant MELA-AU 3 129233822 129233822 single base substitution C T downstream_gene_variant MELA-AU 3 129233822 129233822 single base substitution C T exon_variant MELA-AU 3 129233822 129233822 single base substitution C T intron_variant MELA-AU 3 129234148 129234148 single base substitution C T downstream_gene_variant MELA-AU 3 129234148 129234148 single base substitution C T exon_variant MELA-AU 3 129234148 129234148 single base substitution C T intron_variant MELA-AU 3 129234186 129234187 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 129234186 129234187 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 3 129234186 129234187 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 129234205 129234205 single base substitution C A downstream_gene_variant MELA-AU 3 129234205 129234205 single base substitution C A exon_variant MELA-AU 3 129234205 129234205 single base substitution C A intron_variant MELA-AU 3 129234683 129234683 single base substitution C T downstream_gene_variant MELA-AU 3 129234683 129234683 single base substitution C T intron_variant MELA-AU 3 129235259 129235259 single base substitution C T downstream_gene_variant MELA-AU 3 129235259 129235259 single base substitution C T intron_variant MELA-AU 3 129235903 129235903 single base substitution C G downstream_gene_variant MELA-AU 3 129235903 129235903 single base substitution C G intron_variant MELA-AU 3 129236144 129236144 single base substitution C G downstream_gene_variant MELA-AU 3 129236144 129236144 single base substitution C G intron_variant MELA-AU 3 129236372 129236372 single base substitution C T 3_prime_UTR_variant MELA-AU 3 129236372 129236372 single base substitution C T downstream_gene_variant MELA-AU 3 129236372 129236372 single base substitution C T exon_variant MELA-AU 3 129236372 129236372 single base substitution C T missense_variant S1050F 3149C>T MELA-AU 3 129236372 129236372 single base substitution C T missense_variant S1102F 3305C>T MELA-AU 3 129236372 129236372 single base substitution C T missense_variant S1109F 3326C>T MELA-AU 3 129236372 129236372 single base substitution C T missense_variant S1160F 3479C>T MELA-AU 3 129236372 129236372 single base substitution C T missense_variant S900F 2699C>T MELA-AU 3 129236372 129236372 single base substitution C T missense_variant S959F 2876C>T MELA-AU 3 129236372 129236372 single base substitution C T missense_variant S986F 2957C>T MELA-AU 3 129236372 129236372 single base substitution C T missense_variant S999F 2996C>T MELA-AU 3 129237072 129237072 single base substitution C T downstream_gene_variant MELA-AU 3 129237072 129237072 single base substitution C T intron_variant MELA-AU 3 129237479 129237479 single base substitution C T downstream_gene_variant MELA-AU 3 129237479 129237479 single base substitution C T intron_variant MELA-AU 3 129237556 129237556 single base substitution G A downstream_gene_variant MELA-AU 3 129237556 129237556 single base substitution G A intron_variant MELA-AU 3 129237788 129237788 single base substitution C T downstream_gene_variant MELA-AU 3 129237788 129237788 single base substitution C T intron_variant MELA-AU 3 129237908 129237908 single base substitution C T downstream_gene_variant MELA-AU 3 129237908 129237908 single base substitution C T intron_variant MELA-AU 3 129238059 129238059 single base substitution G A downstream_gene_variant MELA-AU 3 129238059 129238059 single base substitution G A intron_variant MELA-AU 3 129238098 129238098 single base substitution C T downstream_gene_variant MELA-AU 3 129238098 129238098 single base substitution C T intron_variant MELA-AU 3 129238261 129238261 single base substitution G A downstream_gene_variant MELA-AU 3 129238261 129238261 single base substitution G A intron_variant MELA-AU 3 129238658 129238658 single base substitution C T downstream_gene_variant MELA-AU 3 129238658 129238658 single base substitution C T intron_variant MELA-AU 3 129238666 129238666 single base substitution G A intron_variant MELA-AU 3 129238683 129238683 single base substitution C T intron_variant MELA-AU 3 129238853 129238853 single base substitution C T intron_variant MELA-AU 3 129238857 129238857 single base substitution C T intron_variant MELA-AU 3 129238865 129238866 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 129239252 129239252 single base substitution G A downstream_gene_variant MELA-AU 3 129239587 129239587 single base substitution A G downstream_gene_variant MELA-AU 3 129239855 129239855 single base substitution C T downstream_gene_variant MELA-AU 3 129240161 129240161 single base substitution C T downstream_gene_variant MELA-AU 3 129240321 129240321 single base substitution G A downstream_gene_variant MELA-AU 3 129240412 129240412 single base substitution C T downstream_gene_variant MELA-AU 3 129240460 129240460 single base substitution C T downstream_gene_variant MELA-AU 3 129240517 129240517 single base substitution G T downstream_gene_variant MELA-AU 3 129240677 129240677 single base substitution C T downstream_gene_variant MELA-AU 3 129240915 129240915 single base substitution A T downstream_gene_variant MELA-AU 3 129240978 129240978 single base substitution C T downstream_gene_variant MELA-AU 3 129241060 129241060 single base substitution C T downstream_gene_variant MELA-AU 3 129241332 129241332 single base substitution C A downstream_gene_variant MELA-AU 3 129242037 129242037 single base substitution T G downstream_gene_variant MELA-AU 3 129242155 129242155 single base substitution C T downstream_gene_variant MELA-AU 3 129242470 129242470 single base substitution G A downstream_gene_variant MELA-AU 3 129242487 129242487 single base substitution G A downstream_gene_variant MELA-AU 3 129242518 129242518 single base substitution G A downstream_gene_variant MELA-AU 3 129242630 129242630 single base substitution C T downstream_gene_variant MELA-AU 3 129242819 129242819 single base substitution C T downstream_gene_variant MELA-AU 3 129243332 129243332 single base substitution C T downstream_gene_variant MELA-AU 3 129243478 129243478 single base substitution T C downstream_gene_variant MELA-AU 3 129243500 129243501 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 129243629 129243629 single base substitution G A downstream_gene_variant MELA-AU 3 129243643 129243643 single base substitution G A downstream_gene_variant MELA-AU 3 129244165 129244165 single base substitution T C downstream_gene_variant ORCA-IN 3 129156888 129156888 single base substitution T C upstream_gene_variant ORCA-IN 3 129173362 129173362 single base substitution G T downstream_gene_variant ORCA-IN 3 129173362 129173362 single base substitution G T intron_variant ORCA-IN 3 129197276 129197276 single base substitution G A downstream_gene_variant ORCA-IN 3 129197276 129197276 single base substitution G A intron_variant ORCA-IN 3 129197276 129197276 single base substitution G A upstream_gene_variant ORCA-IN 3 129200201 129200201 single base substitution C T downstream_gene_variant ORCA-IN 3 129200201 129200201 single base substitution C T intron_variant ORCA-IN 3 129200201 129200201 single base substitution C T upstream_gene_variant ORCA-IN 3 129211678 129211678 deletion of <=200bp C - intron_variant ORCA-IN 3 129211678 129211678 deletion of <=200bp C - upstream_gene_variant ORCA-IN 3 129214369 129214369 single base substitution C T 3_prime_UTR_variant ORCA-IN 3 129214369 129214369 single base substitution C T downstream_gene_variant ORCA-IN 3 129214369 129214369 single base substitution C T exon_variant ORCA-IN 3 129214369 129214369 single base substitution C T intron_variant ORCA-IN 3 129214369 129214369 single base substitution C T synonymous_variant A206A 618C>T ORCA-IN 3 129214369 129214369 single base substitution C T synonymous_variant A500A 1500C>T ORCA-IN 3 129214369 129214369 single base substitution C T synonymous_variant A559A 1677C>T ORCA-IN 3 129214369 129214369 single base substitution C T synonymous_variant A585A 1755C>T ORCA-IN 3 129214369 129214369 single base substitution C T synonymous_variant A598A 1794C>T ORCA-IN 3 129214369 129214369 single base substitution C T synonymous_variant A650A 1950C>T ORCA-IN 3 129214369 129214369 single base substitution C T synonymous_variant A701A 2103C>T ORCA-IN 3 129214369 129214369 single base substitution C T synonymous_variant A709A 2127C>T ORCA-IN 3 129214369 129214369 single base substitution C T synonymous_variant A71A 213C>T ORCA-IN 3 129214369 129214369 single base substitution C T synonymous_variant A760A 2280C>T ORCA-IN 3 129239079 129239079 single base substitution C T 3_prime_UTR_variant ORCA-IN 3 129239079 129239079 single base substitution C T exon_variant ORCA-IN 3 129239079 129239079 single base substitution C T missense_variant R1024C 3070C>T ORCA-IN 3 129239079 129239079 single base substitution C T missense_variant R1083C 3247C>T ORCA-IN 3 129239079 129239079 single base substitution C T missense_variant R1110C 3328C>T ORCA-IN 3 129239079 129239079 single base substitution C T missense_variant R1123C 3367C>T ORCA-IN 3 129239079 129239079 single base substitution C T missense_variant R1174C 3520C>T ORCA-IN 3 129239079 129239079 single base substitution C T missense_variant R1226C 3676C>T ORCA-IN 3 129239079 129239079 single base substitution C T missense_variant R1233C 3697C>T ORCA-IN 3 129239079 129239079 single base substitution C T missense_variant R1284C 3850C>T OV-AU 3 129156649 129156649 insertion of <=200bp - A upstream_gene_variant OV-AU 3 129172429 129172429 single base substitution A T downstream_gene_variant OV-AU 3 129172429 129172429 single base substitution A T intron_variant OV-AU 3 129174902 129174902 single base substitution A T downstream_gene_variant OV-AU 3 129174902 129174902 single base substitution A T intron_variant OV-AU 3 129176378 129176378 single base substitution G T intron_variant OV-AU 3 129176378 129176378 single base substitution G T upstream_gene_variant OV-AU 3 129177614 129177614 single base substitution T G intron_variant OV-AU 3 129177614 129177614 single base substitution T G upstream_gene_variant OV-AU 3 129180564 129180564 single base substitution G A downstream_gene_variant OV-AU 3 129180564 129180564 single base substitution G A intron_variant OV-AU 3 129180564 129180564 single base substitution G A upstream_gene_variant OV-AU 3 129186555 129186555 single base substitution G C downstream_gene_variant OV-AU 3 129186555 129186555 single base substitution G C intron_variant OV-AU 3 129192895 129192895 single base substitution G A intron_variant OV-AU 3 129192895 129192895 single base substitution G A upstream_gene_variant OV-AU 3 129195932 129195932 single base substitution A G downstream_gene_variant OV-AU 3 129195932 129195932 single base substitution A G intron_variant OV-AU 3 129195932 129195932 single base substitution A G upstream_gene_variant OV-AU 3 129199603 129199603 single base substitution C T downstream_gene_variant OV-AU 3 129199603 129199603 single base substitution C T intron_variant OV-AU 3 129199603 129199603 single base substitution C T upstream_gene_variant OV-AU 3 129200595 129200595 single base substitution C G downstream_gene_variant OV-AU 3 129200595 129200595 single base substitution C G intron_variant OV-AU 3 129209281 129209281 single base substitution C T intron_variant OV-AU 3 129221945 129221945 single base substitution G C downstream_gene_variant OV-AU 3 129221945 129221945 single base substitution G C intron_variant OV-AU 3 129235910 129235910 single base substitution C T downstream_gene_variant OV-AU 3 129235910 129235910 single base substitution C T intron_variant OV-AU 3 129240056 129240056 single base substitution G A downstream_gene_variant PACA-AU 3 129159032 129159032 single base substitution C A 5_prime_UTR_variant PACA-AU 3 129159032 129159032 single base substitution C A upstream_gene_variant PACA-AU 3 129161006 129161006 single base substitution T G intron_variant PACA-AU 3 129164367 129164367 single base substitution A G intron_variant PACA-AU 3 129164367 129164367 single base substitution A G upstream_gene_variant PACA-AU 3 129168764 129168764 single base substitution C T 5_prime_UTR_variant PACA-AU 3 129168764 129168764 single base substitution C T exon_variant PACA-AU 3 129168764 129168764 single base substitution C T missense_variant A17V 50C>T PACA-AU 3 129168764 129168764 single base substitution C T missense_variant A31V 92C>T PACA-AU 3 129172307 129172307 single base substitution A G downstream_gene_variant PACA-AU 3 129172307 129172307 single base substitution A G intron_variant PACA-AU 3 129177562 129177562 single base substitution T C intron_variant PACA-AU 3 129177562 129177562 single base substitution T C upstream_gene_variant PACA-AU 3 129178008 129178008 single base substitution G A intron_variant PACA-AU 3 129178008 129178008 single base substitution G A upstream_gene_variant PACA-AU 3 129178113 129178113 single base substitution A T intron_variant PACA-AU 3 129178113 129178113 single base substitution A T upstream_gene_variant PACA-AU 3 129180969 129180969 single base substitution T C downstream_gene_variant PACA-AU 3 129180969 129180969 single base substitution T C intron_variant PACA-AU 3 129180969 129180969 single base substitution T C upstream_gene_variant PACA-AU 3 129187693 129187693 single base substitution C T downstream_gene_variant PACA-AU 3 129187693 129187693 single base substitution C T intron_variant PACA-AU 3 129193359 129193359 single base substitution C T intron_variant PACA-AU 3 129193359 129193359 single base substitution C T upstream_gene_variant PACA-AU 3 129196489 129196489 single base substitution G A downstream_gene_variant PACA-AU 3 129196489 129196489 single base substitution G A intron_variant PACA-AU 3 129196489 129196489 single base substitution G A upstream_gene_variant PACA-AU 3 129199573 129199573 single base substitution T C downstream_gene_variant PACA-AU 3 129199573 129199573 single base substitution T C intron_variant PACA-AU 3 129199573 129199573 single base substitution T C upstream_gene_variant PACA-AU 3 129202386 129202386 single base substitution C T 3_prime_UTR_variant PACA-AU 3 129202386 129202386 single base substitution C T downstream_gene_variant PACA-AU 3 129202386 129202386 single base substitution C T exon_variant PACA-AU 3 129202386 129202386 single base substitution C T missense_variant S362L 1085C>T PACA-AU 3 129202386 129202386 single base substitution C T missense_variant S421L 1262C>T PACA-AU 3 129202386 129202386 single base substitution C T missense_variant S460L 1379C>T PACA-AU 3 129202386 129202386 single base substitution C T missense_variant S465L 1394C>T PACA-AU 3 129202386 129202386 single base substitution C T missense_variant S512L 1535C>T PACA-AU 3 129202386 129202386 single base substitution C T missense_variant S563L 1688C>T PACA-AU 3 129202386 129202386 single base substitution C T missense_variant S571L 1712C>T PACA-AU 3 129202386 129202386 single base substitution C T missense_variant S622L 1865C>T PACA-AU 3 129202386 129202386 single base substitution C T missense_variant S86L 257C>T PACA-AU 3 129202386 129202386 single base substitution C T upstream_gene_variant PACA-AU 3 129203962 129203962 single base substitution C G downstream_gene_variant PACA-AU 3 129203962 129203962 single base substitution C G intron_variant PACA-AU 3 129203962 129203962 single base substitution C G upstream_gene_variant PACA-AU 3 129204440 129204440 single base substitution G T downstream_gene_variant PACA-AU 3 129204440 129204440 single base substitution G T intron_variant PACA-AU 3 129204440 129204440 single base substitution G T upstream_gene_variant PACA-AU 3 129207187 129207187 single base substitution C T 3_prime_UTR_variant PACA-AU 3 129207187 129207187 single base substitution C T downstream_gene_variant PACA-AU 3 129207187 129207187 single base substitution C T exon_variant PACA-AU 3 129207187 129207187 single base substitution C T missense_variant R162C 484C>T PACA-AU 3 129207187 129207187 single base substitution C T missense_variant R27C 79C>T PACA-AU 3 129207187 129207187 single base substitution C T missense_variant R438C 1312C>T PACA-AU 3 129207187 129207187 single base substitution C T missense_variant R497C 1489C>T PACA-AU 3 129207187 129207187 single base substitution C T missense_variant R536C 1606C>T PACA-AU 3 129207187 129207187 single base substitution C T missense_variant R541C 1621C>T PACA-AU 3 129207187 129207187 single base substitution C T missense_variant R588C 1762C>T PACA-AU 3 129207187 129207187 single base substitution C T missense_variant R639C 1915C>T PACA-AU 3 129207187 129207187 single base substitution C T missense_variant R647C 1939C>T PACA-AU 3 129207187 129207187 single base substitution C T missense_variant R698C 2092C>T PACA-AU 3 129214280 129214280 single base substitution T C intron_variant PACA-AU 3 129214280 129214280 single base substitution T C upstream_gene_variant PACA-AU 3 129218651 129218651 single base substitution A G downstream_gene_variant PACA-AU 3 129218651 129218651 single base substitution A G intron_variant PACA-AU 3 129230746 129230746 single base substitution C T intron_variant PACA-AU 3 129230746 129230746 single base substitution C T upstream_gene_variant PACA-AU 3 129235002 129235002 single base substitution G A downstream_gene_variant PACA-AU 3 129235002 129235002 single base substitution G A intron_variant PACA-AU 3 129242405 129242405 single base substitution T C downstream_gene_variant PACA-AU 3 129243500 129243500 single base substitution C G downstream_gene_variant PACA-CA 3 129155945 129155945 single base substitution C T upstream_gene_variant PACA-CA 3 129157731 129157731 single base substitution T C upstream_gene_variant PACA-CA 3 129161233 129161233 single base substitution T C intron_variant PACA-CA 3 129163799 129163799 deletion of <=200bp T - intron_variant PACA-CA 3 129163799 129163799 deletion of <=200bp T - upstream_gene_variant PACA-CA 3 129171543 129171543 single base substitution C T downstream_gene_variant PACA-CA 3 129171543 129171543 single base substitution C T intron_variant PACA-CA 3 129173413 129173413 single base substitution C G downstream_gene_variant PACA-CA 3 129173413 129173413 single base substitution C G intron_variant PACA-CA 3 129173755 129173755 single base substitution T C downstream_gene_variant PACA-CA 3 129173755 129173755 single base substitution T C intron_variant PACA-CA 3 129179277 129179277 single base substitution T G intron_variant PACA-CA 3 129179277 129179277 single base substitution T G upstream_gene_variant PACA-CA 3 129181188 129181188 single base substitution T C downstream_gene_variant PACA-CA 3 129181188 129181188 single base substitution T C intron_variant PACA-CA 3 129181188 129181188 single base substitution T C upstream_gene_variant PACA-CA 3 129183532 129183532 single base substitution C T 3_prime_UTR_variant PACA-CA 3 129183532 129183532 single base substitution C T downstream_gene_variant PACA-CA 3 129183532 129183532 single base substitution C T exon_variant PACA-CA 3 129183532 129183532 single base substitution C T intron_variant PACA-CA 3 129183532 129183532 single base substitution C T synonymous_variant S105S 315C>T PACA-CA 3 129183532 129183532 single base substitution C T synonymous_variant S108S 324C>T PACA-CA 3 129183532 129183532 single base substitution C T synonymous_variant S110S 330C>T PACA-CA 3 129183532 129183532 single base substitution C T synonymous_variant S157S 471C>T PACA-CA 3 129183532 129183532 single base substitution C T synonymous_variant S208S 624C>T PACA-CA 3 129183532 129183532 single base substitution C T synonymous_variant S7S 21C>T PACA-CA 3 129186594 129186594 single base substitution G T downstream_gene_variant PACA-CA 3 129186594 129186594 single base substitution G T intron_variant PACA-CA 3 129187205 129187205 single base substitution G T downstream_gene_variant PACA-CA 3 129187205 129187205 single base substitution G T intron_variant PACA-CA 3 129189546 129189546 single base substitution T C intron_variant PACA-CA 3 129192309 129192309 single base substitution C T intron_variant PACA-CA 3 129192309 129192309 single base substitution C T upstream_gene_variant PACA-CA 3 129192724 129192724 single base substitution C T intron_variant PACA-CA 3 129192724 129192724 single base substitution C T upstream_gene_variant PACA-CA 3 129195271 129195271 single base substitution T C 3_prime_UTR_variant PACA-CA 3 129195271 129195271 single base substitution T C downstream_gene_variant PACA-CA 3 129195271 129195271 single base substitution T C exon_variant PACA-CA 3 129195271 129195271 single base substitution T C synonymous_variant D101D 303T>C PACA-CA 3 129195271 129195271 single base substitution T C synonymous_variant D136D 408T>C PACA-CA 3 129195271 129195271 single base substitution T C synonymous_variant D160D 480T>C PACA-CA 3 129195271 129195271 single base substitution T C synonymous_variant D188D 564T>C PACA-CA 3 129195271 129195271 single base substitution T C synonymous_variant D199D 597T>C PACA-CA 3 129195271 129195271 single base substitution T C synonymous_variant D204D 612T>C PACA-CA 3 129195271 129195271 single base substitution T C synonymous_variant D251D 753T>C PACA-CA 3 129195271 129195271 single base substitution T C synonymous_variant D302D 906T>C PACA-CA 3 129195271 129195271 single base substitution T C synonymous_variant D310D 930T>C PACA-CA 3 129195271 129195271 single base substitution T C synonymous_variant D361D 1083T>C PACA-CA 3 129195271 129195271 single base substitution T C upstream_gene_variant PACA-CA 3 129196310 129196310 single base substitution T C downstream_gene_variant PACA-CA 3 129196310 129196310 single base substitution T C intron_variant PACA-CA 3 129196310 129196310 single base substitution T C upstream_gene_variant PACA-CA 3 129207515 129207515 single base substitution G A downstream_gene_variant PACA-CA 3 129207515 129207515 single base substitution G A intron_variant PACA-CA 3 129208957 129208957 single base substitution C A intron_variant PACA-CA 3 129209822 129209822 single base substitution G A intron_variant PACA-CA 3 129209822 129209822 single base substitution G A upstream_gene_variant PACA-CA 3 129210687 129210687 single base substitution C T intron_variant PACA-CA 3 129210687 129210687 single base substitution C T upstream_gene_variant PACA-CA 3 129211180 129211180 single base substitution C T intron_variant PACA-CA 3 129211180 129211180 single base substitution C T upstream_gene_variant PACA-CA 3 129211456 129211456 single base substitution C A intron_variant PACA-CA 3 129211456 129211456 single base substitution C A upstream_gene_variant PACA-CA 3 129213977 129213977 single base substitution T G intron_variant PACA-CA 3 129213977 129213977 single base substitution T G upstream_gene_variant PACA-CA 3 129221341 129221341 single base substitution C T intron_variant PACA-CA 3 129222479 129222479 single base substitution C T downstream_gene_variant PACA-CA 3 129222479 129222479 single base substitution C T intron_variant PACA-CA 3 129223852 129223852 single base substitution G A downstream_gene_variant PACA-CA 3 129223852 129223852 single base substitution G A intron_variant PACA-CA 3 129229889 129229889 single base substitution G C intron_variant PACA-CA 3 129229889 129229889 single base substitution G C upstream_gene_variant PACA-CA 3 129236002 129236002 single base substitution G A downstream_gene_variant PACA-CA 3 129236002 129236002 single base substitution G A intron_variant PACA-CA 3 129236431 129236431 single base substitution A G 3_prime_UTR_variant PACA-CA 3 129236431 129236431 single base substitution A G downstream_gene_variant PACA-CA 3 129236431 129236431 single base substitution A G exon_variant PACA-CA 3 129236431 129236431 single base substitution A G missense_variant N1006D 3016A>G PACA-CA 3 129236431 129236431 single base substitution A G missense_variant N1019D 3055A>G PACA-CA 3 129236431 129236431 single base substitution A G missense_variant N1070D 3208A>G PACA-CA 3 129236431 129236431 single base substitution A G missense_variant N1122D 3364A>G PACA-CA 3 129236431 129236431 single base substitution A G missense_variant N1129D 3385A>G PACA-CA 3 129236431 129236431 single base substitution A G missense_variant N1180D 3538A>G PACA-CA 3 129236431 129236431 single base substitution A G missense_variant N920D 2758A>G PACA-CA 3 129236431 129236431 single base substitution A G missense_variant N979D 2935A>G PACA-CA 3 129237914 129237914 single base substitution C T downstream_gene_variant PACA-CA 3 129237914 129237914 single base substitution C T intron_variant PACA-CA 3 129242861 129242861 single base substitution C A downstream_gene_variant PAEN-AU 3 129201026 129201026 single base substitution T G downstream_gene_variant PAEN-AU 3 129201026 129201026 single base substitution T G intron_variant PAEN-IT 3 129173675 129173675 single base substitution G T downstream_gene_variant PAEN-IT 3 129173675 129173675 single base substitution G T intron_variant PAEN-IT 3 129207297 129207297 single base substitution G A downstream_gene_variant PAEN-IT 3 129207297 129207297 single base substitution G A intron_variant PAEN-IT 3 129225686 129225686 single base substitution A G downstream_gene_variant PAEN-IT 3 129225686 129225686 single base substitution A G intron_variant PBCA-DE 3 129164169 129164169 insertion of <=200bp - A intron_variant PBCA-DE 3 129164169 129164169 insertion of <=200bp - A upstream_gene_variant PBCA-DE 3 129171858 129171858 insertion of <=200bp - C downstream_gene_variant PBCA-DE 3 129171858 129171858 insertion of <=200bp - C intron_variant PBCA-DE 3 129174765 129174765 single base substitution G A downstream_gene_variant PBCA-DE 3 129174765 129174765 single base substitution G A intron_variant PBCA-DE 3 129178115 129178115 single base substitution A T intron_variant PBCA-DE 3 129178115 129178115 single base substitution A T upstream_gene_variant PBCA-DE 3 129179275 129179275 insertion of <=200bp - T intron_variant PBCA-DE 3 129179275 129179275 insertion of <=200bp - T upstream_gene_variant PBCA-DE 3 129190972 129190972 single base substitution T C intron_variant PBCA-DE 3 129190972 129190972 single base substitution T C upstream_gene_variant PBCA-DE 3 129199260 129199260 single base substitution C A downstream_gene_variant PBCA-DE 3 129199260 129199260 single base substitution C A intron_variant PBCA-DE 3 129199260 129199260 single base substitution C A upstream_gene_variant PBCA-DE 3 129204365 129204365 single base substitution C T downstream_gene_variant PBCA-DE 3 129204365 129204365 single base substitution C T intron_variant PBCA-DE 3 129204365 129204365 single base substitution C T upstream_gene_variant PBCA-DE 3 129207068 129207070 deletion of <=200bp TCT - 5_prime_UTR_variant PBCA-DE 3 129207068 129207070 deletion of <=200bp TCT - downstream_gene_variant PBCA-DE 3 129207068 129207070 deletion of <=200bp TCT - intron_variant PBCA-DE 3 129213529 129213530 deletion of <=200bp GT - intron_variant PBCA-DE 3 129213529 129213530 deletion of <=200bp GT - upstream_gene_variant PBCA-DE 3 129216103 129216103 insertion of <=200bp - T downstream_gene_variant PBCA-DE 3 129216103 129216103 insertion of <=200bp - T intron_variant PBCA-DE 3 129235013 129235014 deletion of <=200bp CA - downstream_gene_variant PBCA-DE 3 129235013 129235014 deletion of <=200bp CA - intron_variant PBCA-DE 3 129235883 129235884 deletion of <=200bp CA - downstream_gene_variant PBCA-DE 3 129235883 129235884 deletion of <=200bp CA - intron_variant PBCA-DE 3 129236062 129236063 deletion of <=200bp CA - downstream_gene_variant PBCA-DE 3 129236062 129236063 deletion of <=200bp CA - intron_variant PBCA-DE 3 129236244 129236244 single base substitution C T downstream_gene_variant PBCA-DE 3 129236244 129236244 single base substitution C T intron_variant PRAD-CA 3 129201086 129201086 single base substitution G C downstream_gene_variant PRAD-CA 3 129201086 129201086 single base substitution G C intron_variant PRAD-CA 3 129203382 129203382 single base substitution G A downstream_gene_variant PRAD-CA 3 129203382 129203382 single base substitution G A intron_variant PRAD-CA 3 129203382 129203382 single base substitution G A upstream_gene_variant PRAD-CA 3 129216201 129216201 single base substitution G A downstream_gene_variant PRAD-CA 3 129216201 129216201 single base substitution G A intron_variant PRAD-CA 3 129235246 129235246 single base substitution T C downstream_gene_variant PRAD-CA 3 129235246 129235246 single base substitution T C intron_variant PRAD-CA 3 129243926 129243926 single base substitution C A downstream_gene_variant PRAD-UK 3 129156165 129156165 single base substitution T C upstream_gene_variant PRAD-UK 3 129156172 129156172 deletion of <=200bp A - upstream_gene_variant PRAD-UK 3 129163837 129163837 single base substitution A G intron_variant PRAD-UK 3 129163837 129163837 single base substitution A G upstream_gene_variant PRAD-UK 3 129194504 129194504 single base substitution A T intron_variant PRAD-UK 3 129194504 129194504 single base substitution A T upstream_gene_variant PRAD-UK 3 129234822 129234823 deletion of <=200bp CA - downstream_gene_variant PRAD-UK 3 129234822 129234823 deletion of <=200bp CA - intron_variant PRAD-UK 3 129239743 129239743 single base substitution C T downstream_gene_variant PRAD-UK 3 129240774 129240774 single base substitution C A downstream_gene_variant PRAD-US 3 129155916 129155916 single base substitution G A upstream_gene_variant PRAD-US 3 129168739 129168739 single base substitution G T 5_prime_UTR_variant PRAD-US 3 129168739 129168739 single base substitution G T exon_variant PRAD-US 3 129168739 129168739 single base substitution G T missense_variant D23Y 67G>T PRAD-US 3 129168739 129168739 single base substitution G T missense_variant D9Y 25G>T PRAD-US 3 129188218 129188218 single base substitution C G 3_prime_UTR_variant PRAD-US 3 129188218 129188218 single base substitution C G downstream_gene_variant PRAD-US 3 129188218 129188218 single base substitution C G exon_variant PRAD-US 3 129188218 129188218 single base substitution C G missense_variant D108E 324C>G PRAD-US 3 129188218 129188218 single base substitution C G missense_variant D136E 408C>G PRAD-US 3 129188218 129188218 single base substitution C G missense_variant D147E 441C>G PRAD-US 3 129188218 129188218 single base substitution C G missense_variant D152E 456C>G PRAD-US 3 129188218 129188218 single base substitution C G missense_variant D199E 597C>G PRAD-US 3 129188218 129188218 single base substitution C G missense_variant D250E 750C>G PRAD-US 3 129188218 129188218 single base substitution C G missense_variant D258E 774C>G PRAD-US 3 129188218 129188218 single base substitution C G missense_variant D309E 927C>G PRAD-US 3 129188218 129188218 single base substitution C G missense_variant D49E 147C>G PRAD-US 3 129188218 129188218 single base substitution C G missense_variant D84E 252C>G READ-US 3 129168722 129168722 single base substitution A C 5_prime_UTR_variant READ-US 3 129168722 129168722 single base substitution A C exon_variant READ-US 3 129168722 129168722 single base substitution A C missense_variant D17A 50A>C READ-US 3 129168722 129168722 single base substitution A C missense_variant D3A 8A>C READ-US 3 129170834 129170834 single base substitution G A 5_prime_UTR_variant READ-US 3 129170834 129170834 single base substitution G A exon_variant READ-US 3 129170834 129170834 single base substitution G A intron_variant READ-US 3 129170834 129170834 single base substitution G A synonymous_variant A48A 144G>A READ-US 3 129170834 129170834 single base substitution G A synonymous_variant A62A 186G>A READ-US 3 129185862 129185862 single base substitution G T 3_prime_UTR_variant READ-US 3 129185862 129185862 single base substitution G T downstream_gene_variant READ-US 3 129185862 129185862 single base substitution G T intron_variant READ-US 3 129185862 129185862 single base substitution G T missense_variant E231D 693G>T READ-US 3 129185862 129185862 single base substitution G T missense_variant E282D 846G>T READ-US 3 129185862 129185862 single base substitution G T missense_variant E81D 243G>T READ-US 3 129195222 129195222 single base substitution A T 3_prime_UTR_variant READ-US 3 129195222 129195222 single base substitution A T exon_variant READ-US 3 129195222 129195222 single base substitution A T missense_variant Y120F 359A>T READ-US 3 129195222 129195222 single base substitution A T missense_variant Y144F 431A>T READ-US 3 129195222 129195222 single base substitution A T missense_variant Y172F 515A>T READ-US 3 129195222 129195222 single base substitution A T missense_variant Y183F 548A>T READ-US 3 129195222 129195222 single base substitution A T missense_variant Y188F 563A>T READ-US 3 129195222 129195222 single base substitution A T missense_variant Y235F 704A>T READ-US 3 129195222 129195222 single base substitution A T missense_variant Y286F 857A>T READ-US 3 129195222 129195222 single base substitution A T missense_variant Y294F 881A>T READ-US 3 129195222 129195222 single base substitution A T missense_variant Y345F 1034A>T READ-US 3 129195222 129195222 single base substitution A T missense_variant Y85F 254A>T READ-US 3 129195222 129195222 single base substitution A T upstream_gene_variant READ-US 3 129195582 129195582 single base substitution G A 3_prime_UTR_variant READ-US 3 129195582 129195582 single base substitution G A downstream_gene_variant READ-US 3 129195582 129195582 single base substitution G A exon_variant READ-US 3 129195582 129195582 single base substitution G A missense_variant R153H 458G>A READ-US 3 129195582 129195582 single base substitution G A missense_variant R188H 563G>A READ-US 3 129195582 129195582 single base substitution G A missense_variant R212H 635G>A READ-US 3 129195582 129195582 single base substitution G A missense_variant R240H 719G>A READ-US 3 129195582 129195582 single base substitution G A missense_variant R251H 752G>A READ-US 3 129195582 129195582 single base substitution G A missense_variant R256H 767G>A READ-US 3 129195582 129195582 single base substitution G A missense_variant R303H 908G>A READ-US 3 129195582 129195582 single base substitution G A missense_variant R354H 1061G>A READ-US 3 129195582 129195582 single base substitution G A missense_variant R362H 1085G>A READ-US 3 129195582 129195582 single base substitution G A missense_variant R413H 1238G>A READ-US 3 129195582 129195582 single base substitution G A upstream_gene_variant RECA-EU 3 129172446 129172446 single base substitution A C downstream_gene_variant RECA-EU 3 129172446 129172446 single base substitution A C intron_variant RECA-EU 3 129177735 129177735 single base substitution G C intron_variant RECA-EU 3 129177735 129177735 single base substitution G C upstream_gene_variant RECA-EU 3 129180937 129180937 single base substitution T G downstream_gene_variant RECA-EU 3 129180937 129180937 single base substitution T G intron_variant RECA-EU 3 129180937 129180937 single base substitution T G upstream_gene_variant RECA-EU 3 129183732 129183732 single base substitution G C downstream_gene_variant RECA-EU 3 129183732 129183732 single base substitution G C intron_variant RECA-EU 3 129186334 129186334 single base substitution T G downstream_gene_variant RECA-EU 3 129186334 129186334 single base substitution T G intron_variant RECA-EU 3 129200905 129200905 single base substitution T A downstream_gene_variant RECA-EU 3 129200905 129200905 single base substitution T A intron_variant RECA-EU 3 129202911 129202911 single base substitution A T downstream_gene_variant RECA-EU 3 129202911 129202911 single base substitution A T intron_variant RECA-EU 3 129202911 129202911 single base substitution A T upstream_gene_variant RECA-EU 3 129204752 129204752 single base substitution G T downstream_gene_variant RECA-EU 3 129204752 129204752 single base substitution G T intron_variant RECA-EU 3 129204752 129204752 single base substitution G T upstream_gene_variant RECA-EU 3 129206062 129206062 single base substitution G A downstream_gene_variant RECA-EU 3 129206062 129206062 single base substitution G A intron_variant RECA-EU 3 129206062 129206062 single base substitution G A upstream_gene_variant RECA-EU 3 129241443 129241443 single base substitution A T downstream_gene_variant RECA-EU 3 129243203 129243203 single base substitution T C downstream_gene_variant SKCA-BR 3 129154456 129154456 single base substitution C G upstream_gene_variant SKCA-BR 3 129159260 129159260 single base substitution C G intron_variant SKCA-BR 3 129159397 129159397 single base substitution T G intron_variant SKCA-BR 3 129160266 129160266 single base substitution C T intron_variant SKCA-BR 3 129161150 129161150 single base substitution C T intron_variant SKCA-BR 3 129161468 129161468 single base substitution G A intron_variant SKCA-BR 3 129163043 129163043 single base substitution T C intron_variant SKCA-BR 3 129167342 129167342 single base substitution C G intron_variant SKCA-BR 3 129167342 129167342 single base substitution C G upstream_gene_variant SKCA-BR 3 129170329 129170329 single base substitution C T intron_variant SKCA-BR 3 129170662 129170662 single base substitution G A intron_variant SKCA-BR 3 129176641 129176641 single base substitution T C intron_variant SKCA-BR 3 129176641 129176641 single base substitution T C upstream_gene_variant SKCA-BR 3 129178452 129178456 deletion of <=200bp TTTCC - intron_variant SKCA-BR 3 129178452 129178456 deletion of <=200bp TTTCC - upstream_gene_variant SKCA-BR 3 129179329 129179329 single base substitution C T intron_variant SKCA-BR 3 129179329 129179329 single base substitution C T upstream_gene_variant SKCA-BR 3 129181107 129181107 single base substitution A T downstream_gene_variant SKCA-BR 3 129181107 129181107 single base substitution A T intron_variant SKCA-BR 3 129181107 129181107 single base substitution A T upstream_gene_variant SKCA-BR 3 129183320 129183320 single base substitution C G downstream_gene_variant SKCA-BR 3 129183320 129183320 single base substitution C G intron_variant SKCA-BR 3 129184907 129184908 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 3 129184907 129184908 deletion of <=200bp CT - intron_variant SKCA-BR 3 129185335 129185335 single base substitution A T downstream_gene_variant SKCA-BR 3 129185335 129185335 single base substitution A T intron_variant SKCA-BR 3 129187691 129187691 single base substitution A C downstream_gene_variant SKCA-BR 3 129187691 129187691 single base substitution A C intron_variant SKCA-BR 3 129190717 129190717 single base substitution C T intron_variant SKCA-BR 3 129190717 129190717 single base substitution C T upstream_gene_variant SKCA-BR 3 129192215 129192215 single base substitution C T intron_variant SKCA-BR 3 129192215 129192215 single base substitution C T upstream_gene_variant SKCA-BR 3 129196408 129196408 single base substitution C T downstream_gene_variant SKCA-BR 3 129196408 129196408 single base substitution C T intron_variant SKCA-BR 3 129196408 129196408 single base substitution C T upstream_gene_variant SKCA-BR 3 129198099 129198099 single base substitution A C downstream_gene_variant SKCA-BR 3 129198099 129198099 single base substitution A C intron_variant SKCA-BR 3 129198099 129198099 single base substitution A C upstream_gene_variant SKCA-BR 3 129202322 129202322 single base substitution C T downstream_gene_variant SKCA-BR 3 129202322 129202322 single base substitution C T intron_variant SKCA-BR 3 129202322 129202322 single base substitution C T splice_region_variant SKCA-BR 3 129202322 129202322 single base substitution C T upstream_gene_variant SKCA-BR 3 129208574 129208574 single base substitution C T intron_variant SKCA-BR 3 129212969 129212969 single base substitution C T intron_variant SKCA-BR 3 129212969 129212969 single base substitution C T upstream_gene_variant SKCA-BR 3 129213289 129213289 single base substitution A T intron_variant SKCA-BR 3 129213289 129213289 single base substitution A T upstream_gene_variant SKCA-BR 3 129214927 129214927 single base substitution A G downstream_gene_variant SKCA-BR 3 129214927 129214927 single base substitution A G intron_variant SKCA-BR 3 129215800 129215800 single base substitution C T downstream_gene_variant SKCA-BR 3 129215800 129215800 single base substitution C T intron_variant SKCA-BR 3 129217015 129217015 single base substitution G A downstream_gene_variant SKCA-BR 3 129217015 129217015 single base substitution G A intron_variant SKCA-BR 3 129217287 129217287 single base substitution G A downstream_gene_variant SKCA-BR 3 129217287 129217287 single base substitution G A intron_variant SKCA-BR 3 129217305 129217305 single base substitution A G downstream_gene_variant SKCA-BR 3 129217305 129217305 single base substitution A G intron_variant SKCA-BR 3 129219434 129219434 single base substitution C T intron_variant SKCA-BR 3 129219818 129219818 single base substitution C T intron_variant SKCA-BR 3 129221443 129221443 single base substitution C T intron_variant SKCA-BR 3 129224877 129224877 single base substitution T G downstream_gene_variant SKCA-BR 3 129224877 129224877 single base substitution T G intron_variant SKCA-BR 3 129227423 129227423 single base substitution A C downstream_gene_variant SKCA-BR 3 129227423 129227423 single base substitution A C intron_variant SKCA-BR 3 129227423 129227423 single base substitution A C upstream_gene_variant SKCA-BR 3 129228879 129228879 single base substitution C T intron_variant SKCA-BR 3 129228879 129228879 single base substitution C T upstream_gene_variant SKCA-BR 3 129228890 129228890 single base substitution C T intron_variant SKCA-BR 3 129228890 129228890 single base substitution C T upstream_gene_variant SKCA-BR 3 129228936 129228936 single base substitution C T intron_variant SKCA-BR 3 129228936 129228936 single base substitution C T upstream_gene_variant SKCA-BR 3 129233430 129233430 single base substitution C A exon_variant SKCA-BR 3 129233430 129233430 single base substitution C A intron_variant SKCA-BR 3 129235129 129235129 insertion of <=200bp - GCA downstream_gene_variant SKCA-BR 3 129235129 129235129 insertion of <=200bp - GCA intron_variant SKCA-BR 3 129235635 129235635 single base substitution T C downstream_gene_variant SKCA-BR 3 129235635 129235635 single base substitution T C intron_variant SKCA-BR 3 129237489 129237489 single base substitution C T downstream_gene_variant SKCA-BR 3 129237489 129237489 single base substitution C T intron_variant SKCA-BR 3 129237627 129237627 single base substitution C T downstream_gene_variant SKCA-BR 3 129237627 129237627 single base substitution C T intron_variant SKCA-BR 3 129237942 129237942 single base substitution C T downstream_gene_variant SKCA-BR 3 129237942 129237942 single base substitution C T splice_region_variant SKCA-BR 3 129240606 129240606 single base substitution C T downstream_gene_variant SKCA-BR 3 129241634 129241634 single base substitution G A downstream_gene_variant SKCA-BR 3 129243165 129243165 single base substitution C T downstream_gene_variant SKCA-BR 3 129243166 129243166 single base substitution C T downstream_gene_variant SKCA-BR 3 129243637 129243637 single base substitution G A downstream_gene_variant SKCA-BR 3 129244131 129244131 single base substitution C T downstream_gene_variant SKCM-US 3 129155548 129155548 deletion of <=200bp T - upstream_gene_variant SKCM-US 3 129155733 129155733 single base substitution T A upstream_gene_variant SKCM-US 3 129156130 129156130 single base substitution T C upstream_gene_variant SKCM-US 3 129156739 129156739 single base substitution C T upstream_gene_variant SKCM-US 3 129168726 129168726 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 3 129168726 129168726 single base substitution C T exon_variant SKCM-US 3 129168726 129168726 single base substitution C T synonymous_variant I18I 54C>T SKCM-US 3 129168726 129168726 single base substitution C T synonymous_variant I4I 12C>T SKCM-US 3 129183591 129183591 single base substitution C T 3_prime_UTR_variant SKCM-US 3 129183591 129183591 single base substitution C T downstream_gene_variant SKCM-US 3 129183591 129183591 single base substitution C T exon_variant SKCM-US 3 129183591 129183591 single base substitution C T intron_variant SKCM-US 3 129183591 129183591 single base substitution C T missense_variant S125L 374C>T SKCM-US 3 129183591 129183591 single base substitution C T missense_variant S130L 389C>T SKCM-US 3 129183591 129183591 single base substitution C T missense_variant S177L 530C>T SKCM-US 3 129183591 129183591 single base substitution C T missense_variant S228L 683C>T SKCM-US 3 129183591 129183591 single base substitution C T missense_variant S27L 80C>T SKCM-US 3 129185811 129185811 single base substitution C T 3_prime_UTR_variant SKCM-US 3 129185811 129185811 single base substitution C T downstream_gene_variant SKCM-US 3 129185811 129185811 single base substitution C T intron_variant SKCM-US 3 129185811 129185811 single base substitution C T synonymous_variant I214I 642C>T SKCM-US 3 129185811 129185811 single base substitution C T synonymous_variant I265I 795C>T SKCM-US 3 129185811 129185811 single base substitution C T synonymous_variant I64I 192C>T SKCM-US 3 129185821 129185821 single base substitution C T 3_prime_UTR_variant SKCM-US 3 129185821 129185821 single base substitution C T downstream_gene_variant SKCM-US 3 129185821 129185821 single base substitution C T intron_variant SKCM-US 3 129185821 129185821 single base substitution C T synonymous_variant L218L 652C>T SKCM-US 3 129185821 129185821 single base substitution C T synonymous_variant L269L 805C>T SKCM-US 3 129185821 129185821 single base substitution C T synonymous_variant L68L 202C>T SKCM-US 3 129195284 129195284 single base substitution G A 3_prime_UTR_variant SKCM-US 3 129195284 129195284 single base substitution G A downstream_gene_variant SKCM-US 3 129195284 129195284 single base substitution G A exon_variant SKCM-US 3 129195284 129195284 single base substitution G A missense_variant G106R 316G>A SKCM-US 3 129195284 129195284 single base substitution G A missense_variant G141R 421G>A SKCM-US 3 129195284 129195284 single base substitution G A missense_variant G165R 493G>A SKCM-US 3 129195284 129195284 single base substitution G A missense_variant G193R 577G>A SKCM-US 3 129195284 129195284 single base substitution G A missense_variant G204R 610G>A SKCM-US 3 129195284 129195284 single base substitution G A missense_variant G209R 625G>A SKCM-US 3 129195284 129195284 single base substitution G A missense_variant G256R 766G>A SKCM-US 3 129195284 129195284 single base substitution G A missense_variant G307R 919G>A SKCM-US 3 129195284 129195284 single base substitution G A missense_variant G315R 943G>A SKCM-US 3 129195284 129195284 single base substitution G A missense_variant G366R 1096G>A SKCM-US 3 129195284 129195284 single base substitution G A upstream_gene_variant SKCM-US 3 129195306 129195306 single base substitution C T 3_prime_UTR_variant SKCM-US 3 129195306 129195306 single base substitution C T downstream_gene_variant SKCM-US 3 129195306 129195306 single base substitution C T exon_variant SKCM-US 3 129195306 129195306 single base substitution C T missense_variant S113F 338C>T SKCM-US 3 129195306 129195306 single base substitution C T missense_variant S148F 443C>T SKCM-US 3 129195306 129195306 single base substitution C T missense_variant S172F 515C>T SKCM-US 3 129195306 129195306 single base substitution C T missense_variant S200F 599C>T SKCM-US 3 129195306 129195306 single base substitution C T missense_variant S211F 632C>T SKCM-US 3 129195306 129195306 single base substitution C T missense_variant S216F 647C>T SKCM-US 3 129195306 129195306 single base substitution C T missense_variant S263F 788C>T SKCM-US 3 129195306 129195306 single base substitution C T missense_variant S314F 941C>T SKCM-US 3 129195306 129195306 single base substitution C T missense_variant S322F 965C>T SKCM-US 3 129195306 129195306 single base substitution C T missense_variant S373F 1118C>T SKCM-US 3 129195306 129195306 single base substitution C T upstream_gene_variant SKCM-US 3 129195589 129195589 single base substitution C T 3_prime_UTR_variant SKCM-US 3 129195589 129195589 single base substitution C T downstream_gene_variant SKCM-US 3 129195589 129195589 single base substitution C T exon_variant SKCM-US 3 129195589 129195589 single base substitution C T synonymous_variant A155A 465C>T SKCM-US 3 129195589 129195589 single base substitution C T synonymous_variant A190A 570C>T SKCM-US 3 129195589 129195589 single base substitution C T synonymous_variant A214A 642C>T SKCM-US 3 129195589 129195589 single base substitution C T synonymous_variant A242A 726C>T SKCM-US 3 129195589 129195589 single base substitution C T synonymous_variant A253A 759C>T SKCM-US 3 129195589 129195589 single base substitution C T synonymous_variant A258A 774C>T SKCM-US 3 129195589 129195589 single base substitution C T synonymous_variant A305A 915C>T SKCM-US 3 129195589 129195589 single base substitution C T synonymous_variant A356A 1068C>T SKCM-US 3 129195589 129195589 single base substitution C T synonymous_variant A364A 1092C>T SKCM-US 3 129195589 129195589 single base substitution C T synonymous_variant A415A 1245C>T SKCM-US 3 129195589 129195589 single base substitution C T upstream_gene_variant SKCM-US 3 129198697 129198697 single base substitution C T 3_prime_UTR_variant SKCM-US 3 129198697 129198697 single base substitution C T downstream_gene_variant SKCM-US 3 129198697 129198697 single base substitution C T exon_variant SKCM-US 3 129198697 129198697 single base substitution C T missense_variant R265C 793C>T SKCM-US 3 129198697 129198697 single base substitution C T missense_variant R300C 898C>T SKCM-US 3 129198697 129198697 single base substitution C T missense_variant R324C 970C>T SKCM-US 3 129198697 129198697 single base substitution C T missense_variant R363C 1087C>T SKCM-US 3 129198697 129198697 single base substitution C T missense_variant R368C 1102C>T SKCM-US 3 129198697 129198697 single base substitution C T missense_variant R415C 1243C>T SKCM-US 3 129198697 129198697 single base substitution C T missense_variant R466C 1396C>T SKCM-US 3 129198697 129198697 single base substitution C T missense_variant R474C 1420C>T SKCM-US 3 129198697 129198697 single base substitution C T missense_variant R525C 1573C>T SKCM-US 3 129198697 129198697 single base substitution C T upstream_gene_variant SKCM-US 3 129198739 129198739 single base substitution C T 3_prime_UTR_variant SKCM-US 3 129198739 129198739 single base substitution C T downstream_gene_variant SKCM-US 3 129198739 129198739 single base substitution C T exon_variant SKCM-US 3 129198739 129198739 single base substitution C T missense_variant L279F 835C>T SKCM-US 3 129198739 129198739 single base substitution C T missense_variant L314F 940C>T SKCM-US 3 129198739 129198739 single base substitution C T missense_variant L338F 1012C>T SKCM-US 3 129198739 129198739 single base substitution C T missense_variant L377F 1129C>T SKCM-US 3 129198739 129198739 single base substitution C T missense_variant L382F 1144C>T SKCM-US 3 129198739 129198739 single base substitution C T missense_variant L3F 7C>T SKCM-US 3 129198739 129198739 single base substitution C T missense_variant L429F 1285C>T SKCM-US 3 129198739 129198739 single base substitution C T missense_variant L480F 1438C>T SKCM-US 3 129198739 129198739 single base substitution C T missense_variant L488F 1462C>T SKCM-US 3 129198739 129198739 single base substitution C T missense_variant L539F 1615C>T SKCM-US 3 129198739 129198739 single base substitution C T upstream_gene_variant SKCM-US 3 129200535 129200535 single base substitution C T downstream_gene_variant SKCM-US 3 129200535 129200535 single base substitution C T splice_region_variant SKCM-US 3 129200535 129200535 single base substitution C T stop_gained Q342* 1024C>T SKCM-US 3 129200535 129200535 single base substitution C T stop_gained Q401* 1201C>T SKCM-US 3 129200535 129200535 single base substitution C T stop_gained Q440* 1318C>T SKCM-US 3 129200535 129200535 single base substitution C T stop_gained Q445* 1333C>T SKCM-US 3 129200535 129200535 single base substitution C T stop_gained Q492* 1474C>T SKCM-US 3 129200535 129200535 single base substitution C T stop_gained Q543* 1627C>T SKCM-US 3 129200535 129200535 single base substitution C T stop_gained Q551* 1651C>T SKCM-US 3 129200535 129200535 single base substitution C T stop_gained Q602* 1804C>T SKCM-US 3 129200535 129200535 single base substitution C T stop_gained Q66* 196C>T SKCM-US 3 129202332 129202332 single base substitution C T 3_prime_UTR_variant SKCM-US 3 129202332 129202332 single base substitution C T downstream_gene_variant SKCM-US 3 129202332 129202332 single base substitution C T exon_variant SKCM-US 3 129202332 129202332 single base substitution C T missense_variant P344L 1031C>T SKCM-US 3 129202332 129202332 single base substitution C T missense_variant P403L 1208C>T SKCM-US 3 129202332 129202332 single base substitution C T missense_variant P442L 1325C>T SKCM-US 3 129202332 129202332 single base substitution C T missense_variant P447L 1340C>T SKCM-US 3 129202332 129202332 single base substitution C T missense_variant P494L 1481C>T SKCM-US 3 129202332 129202332 single base substitution C T missense_variant P545L 1634C>T SKCM-US 3 129202332 129202332 single base substitution C T missense_variant P553L 1658C>T SKCM-US 3 129202332 129202332 single base substitution C T missense_variant P604L 1811C>T SKCM-US 3 129202332 129202332 single base substitution C T missense_variant P68L 203C>T SKCM-US 3 129202332 129202332 single base substitution C T upstream_gene_variant SKCM-US 3 129202459 129202459 single base substitution C T 3_prime_UTR_variant SKCM-US 3 129202459 129202459 single base substitution C T downstream_gene_variant SKCM-US 3 129202459 129202459 single base substitution C T exon_variant SKCM-US 3 129202459 129202459 single base substitution C T synonymous_variant V110V 330C>T SKCM-US 3 129202459 129202459 single base substitution C T synonymous_variant V386V 1158C>T SKCM-US 3 129202459 129202459 single base substitution C T synonymous_variant V445V 1335C>T SKCM-US 3 129202459 129202459 single base substitution C T synonymous_variant V484V 1452C>T SKCM-US 3 129202459 129202459 single base substitution C T synonymous_variant V489V 1467C>T SKCM-US 3 129202459 129202459 single base substitution C T synonymous_variant V536V 1608C>T SKCM-US 3 129202459 129202459 single base substitution C T synonymous_variant V587V 1761C>T SKCM-US 3 129202459 129202459 single base substitution C T synonymous_variant V595V 1785C>T SKCM-US 3 129202459 129202459 single base substitution C T synonymous_variant V646V 1938C>T SKCM-US 3 129202459 129202459 single base substitution C T upstream_gene_variant SKCM-US 3 129207101 129207101 single base substitution C T 5_prime_UTR_variant SKCM-US 3 129207101 129207101 single base substitution C T downstream_gene_variant SKCM-US 3 129207101 129207101 single base substitution C T missense_variant S133F 398C>T SKCM-US 3 129207101 129207101 single base substitution C T missense_variant S409F 1226C>T SKCM-US 3 129207101 129207101 single base substitution C T missense_variant S468F 1403C>T SKCM-US 3 129207101 129207101 single base substitution C T missense_variant S507F 1520C>T SKCM-US 3 129207101 129207101 single base substitution C T missense_variant S512F 1535C>T SKCM-US 3 129207101 129207101 single base substitution C T missense_variant S559F 1676C>T SKCM-US 3 129207101 129207101 single base substitution C T missense_variant S610F 1829C>T SKCM-US 3 129207101 129207101 single base substitution C T missense_variant S618F 1853C>T SKCM-US 3 129207101 129207101 single base substitution C T missense_variant S669F 2006C>T SKCM-US 3 129207101 129207101 single base substitution C T splice_region_variant SKCM-US 3 129207226 129207226 single base substitution G A 3_prime_UTR_variant SKCM-US 3 129207226 129207226 single base substitution G A downstream_gene_variant SKCM-US 3 129207226 129207226 single base substitution G A exon_variant SKCM-US 3 129207226 129207226 single base substitution G A missense_variant E175K 523G>A SKCM-US 3 129207226 129207226 single base substitution G A missense_variant E40K 118G>A SKCM-US 3 129207226 129207226 single base substitution G A missense_variant E451K 1351G>A SKCM-US 3 129207226 129207226 single base substitution G A missense_variant E510K 1528G>A SKCM-US 3 129207226 129207226 single base substitution G A missense_variant E549K 1645G>A SKCM-US 3 129207226 129207226 single base substitution G A missense_variant E554K 1660G>A SKCM-US 3 129207226 129207226 single base substitution G A missense_variant E601K 1801G>A SKCM-US 3 129207226 129207226 single base substitution G A missense_variant E652K 1954G>A SKCM-US 3 129207226 129207226 single base substitution G A missense_variant E660K 1978G>A SKCM-US 3 129207226 129207226 single base substitution G A missense_variant E711K 2131G>A SKCM-US 3 129214405 129214405 single base substitution C T 3_prime_UTR_variant SKCM-US 3 129214405 129214405 single base substitution C T downstream_gene_variant SKCM-US 3 129214405 129214405 single base substitution C T exon_variant SKCM-US 3 129214405 129214405 single base substitution C T intron_variant SKCM-US 3 129214405 129214405 single base substitution C T synonymous_variant L218L 654C>T SKCM-US 3 129214405 129214405 single base substitution C T synonymous_variant L512L 1536C>T SKCM-US 3 129214405 129214405 single base substitution C T synonymous_variant L571L 1713C>T SKCM-US 3 129214405 129214405 single base substitution C T synonymous_variant L597L 1791C>T SKCM-US 3 129214405 129214405 single base substitution C T synonymous_variant L610L 1830C>T SKCM-US 3 129214405 129214405 single base substitution C T synonymous_variant L662L 1986C>T SKCM-US 3 129214405 129214405 single base substitution C T synonymous_variant L713L 2139C>T SKCM-US 3 129214405 129214405 single base substitution C T synonymous_variant L721L 2163C>T SKCM-US 3 129214405 129214405 single base substitution C T synonymous_variant L772L 2316C>T SKCM-US 3 129214405 129214405 single base substitution C T synonymous_variant L83L 249C>T SKCM-US 3 129218838 129218838 single base substitution G A 3_prime_UTR_variant SKCM-US 3 129218838 129218838 single base substitution G A downstream_gene_variant SKCM-US 3 129218838 129218838 single base substitution G A exon_variant SKCM-US 3 129218838 129218838 single base substitution G A missense_variant V130M 388G>A SKCM-US 3 129218838 129218838 single base substitution G A missense_variant V265M 793G>A SKCM-US 3 129218838 129218838 single base substitution G A missense_variant V559M 1675G>A SKCM-US 3 129218838 129218838 single base substitution G A missense_variant V618M 1852G>A SKCM-US 3 129218838 129218838 single base substitution G A missense_variant V644M 1930G>A SKCM-US 3 129218838 129218838 single base substitution G A missense_variant V657M 1969G>A SKCM-US 3 129218838 129218838 single base substitution G A missense_variant V709M 2125G>A SKCM-US 3 129218838 129218838 single base substitution G A missense_variant V760M 2278G>A SKCM-US 3 129218838 129218838 single base substitution G A missense_variant V768M 2302G>A SKCM-US 3 129218838 129218838 single base substitution G A missense_variant V819M 2455G>A SKCM-US 3 129221661 129221661 single base substitution A G 3_prime_UTR_variant SKCM-US 3 129221661 129221661 single base substitution A G downstream_gene_variant SKCM-US 3 129221661 129221661 single base substitution A G exon_variant SKCM-US 3 129221661 129221661 single base substitution A G missense_variant Y325C 974A>G SKCM-US 3 129221661 129221661 single base substitution A G missense_variant Y619C 1856A>G SKCM-US 3 129221661 129221661 single base substitution A G missense_variant Y678C 2033A>G SKCM-US 3 129221661 129221661 single base substitution A G missense_variant Y704C 2111A>G SKCM-US 3 129221661 129221661 single base substitution A G missense_variant Y717C 2150A>G SKCM-US 3 129221661 129221661 single base substitution A G missense_variant Y769C 2306A>G SKCM-US 3 129221661 129221661 single base substitution A G missense_variant Y820C 2459A>G SKCM-US 3 129221661 129221661 single base substitution A G missense_variant Y828C 2483A>G SKCM-US 3 129221661 129221661 single base substitution A G missense_variant Y879C 2636A>G SKCM-US 3 129221680 129221680 single base substitution C T 3_prime_UTR_variant SKCM-US 3 129221680 129221680 single base substitution C T downstream_gene_variant SKCM-US 3 129221680 129221680 single base substitution C T exon_variant SKCM-US 3 129221680 129221680 single base substitution C T synonymous_variant L331L 993C>T SKCM-US 3 129221680 129221680 single base substitution C T synonymous_variant L625L 1875C>T SKCM-US 3 129221680 129221680 single base substitution C T synonymous_variant L684L 2052C>T SKCM-US 3 129221680 129221680 single base substitution C T synonymous_variant L710L 2130C>T SKCM-US 3 129221680 129221680 single base substitution C T synonymous_variant L723L 2169C>T SKCM-US 3 129221680 129221680 single base substitution C T synonymous_variant L775L 2325C>T SKCM-US 3 129221680 129221680 single base substitution C T synonymous_variant L826L 2478C>T SKCM-US 3 129221680 129221680 single base substitution C T synonymous_variant L834L 2502C>T SKCM-US 3 129221680 129221680 single base substitution C T synonymous_variant L885L 2655C>T SKCM-US 3 129221686 129221686 single base substitution C T 3_prime_UTR_variant SKCM-US 3 129221686 129221686 single base substitution C T downstream_gene_variant SKCM-US 3 129221686 129221686 single base substitution C T exon_variant SKCM-US 3 129221686 129221686 single base substitution C T synonymous_variant S333S 999C>T SKCM-US 3 129221686 129221686 single base substitution C T synonymous_variant S627S 1881C>T SKCM-US 3 129221686 129221686 single base substitution C T synonymous_variant S686S 2058C>T SKCM-US 3 129221686 129221686 single base substitution C T synonymous_variant S712S 2136C>T SKCM-US 3 129221686 129221686 single base substitution C T synonymous_variant S725S 2175C>T SKCM-US 3 129221686 129221686 single base substitution C T synonymous_variant S777S 2331C>T SKCM-US 3 129221686 129221686 single base substitution C T synonymous_variant S828S 2484C>T SKCM-US 3 129221686 129221686 single base substitution C T synonymous_variant S836S 2508C>T SKCM-US 3 129221686 129221686 single base substitution C T synonymous_variant S887S 2661C>T SKCM-US 3 129221700 129221700 single base substitution A T 3_prime_UTR_variant SKCM-US 3 129221700 129221700 single base substitution A T downstream_gene_variant SKCM-US 3 129221700 129221700 single base substitution A T exon_variant SKCM-US 3 129221700 129221700 single base substitution A T missense_variant H338L 1013A>T SKCM-US 3 129221700 129221700 single base substitution A T missense_variant H632L 1895A>T SKCM-US 3 129221700 129221700 single base substitution A T missense_variant H691L 2072A>T SKCM-US 3 129221700 129221700 single base substitution A T missense_variant H717L 2150A>T SKCM-US 3 129221700 129221700 single base substitution A T missense_variant H730L 2189A>T SKCM-US 3 129221700 129221700 single base substitution A T missense_variant H782L 2345A>T SKCM-US 3 129221700 129221700 single base substitution A T missense_variant H833L 2498A>T SKCM-US 3 129221700 129221700 single base substitution A T missense_variant H841L 2522A>T SKCM-US 3 129221700 129221700 single base substitution A T missense_variant H892L 2675A>T SKCM-US 3 129223186 129223186 single base substitution C T 3_prime_UTR_variant SKCM-US 3 129223186 129223186 single base substitution C T downstream_gene_variant SKCM-US 3 129223186 129223186 single base substitution C T exon_variant SKCM-US 3 129223186 129223186 single base substitution C T missense_variant P355S 1063C>T SKCM-US 3 129223186 129223186 single base substitution C T missense_variant P649S 1945C>T SKCM-US 3 129223186 129223186 single base substitution C T missense_variant P708S 2122C>T SKCM-US 3 129223186 129223186 single base substitution C T missense_variant P734S 2200C>T SKCM-US 3 129223186 129223186 single base substitution C T missense_variant P747S 2239C>T SKCM-US 3 129223186 129223186 single base substitution C T missense_variant P799S 2395C>T SKCM-US 3 129223186 129223186 single base substitution C T missense_variant P850S 2548C>T SKCM-US 3 129223186 129223186 single base substitution C T missense_variant P858S 2572C>T SKCM-US 3 129223186 129223186 single base substitution C T missense_variant P909S 2725C>T SKCM-US 3 129231158 129231158 single base substitution G A 3_prime_UTR_variant SKCM-US 3 129231158 129231158 single base substitution G A exon_variant SKCM-US 3 129231158 129231158 single base substitution G A missense_variant D1015N 3043G>A SKCM-US 3 129231158 129231158 single base substitution G A missense_variant D755N 2263G>A SKCM-US 3 129231158 129231158 single base substitution G A missense_variant D814N 2440G>A SKCM-US 3 129231158 129231158 single base substitution G A missense_variant D841N 2521G>A SKCM-US 3 129231158 129231158 single base substitution G A missense_variant D854N 2560G>A SKCM-US 3 129231158 129231158 single base substitution G A missense_variant D905N 2713G>A SKCM-US 3 129231158 129231158 single base substitution G A missense_variant D957N 2869G>A SKCM-US 3 129231158 129231158 single base substitution G A missense_variant D964N 2890G>A SKCM-US 3 129231158 129231158 single base substitution G A upstream_gene_variant SKCM-US 3 129233282 129233282 single base substitution G A 3_prime_UTR_variant SKCM-US 3 129233282 129233282 single base substitution G A exon_variant SKCM-US 3 129233282 129233282 single base substitution G A missense_variant R1006K 3017G>A SKCM-US 3 129233282 129233282 single base substitution G A missense_variant R1013K 3038G>A SKCM-US 3 129233282 129233282 single base substitution G A missense_variant R1064K 3191G>A SKCM-US 3 129233282 129233282 single base substitution G A missense_variant R804K 2411G>A SKCM-US 3 129233282 129233282 single base substitution G A missense_variant R863K 2588G>A SKCM-US 3 129233282 129233282 single base substitution G A missense_variant R890K 2669G>A SKCM-US 3 129233282 129233282 single base substitution G A missense_variant R903K 2708G>A SKCM-US 3 129233282 129233282 single base substitution G A missense_variant R954K 2861G>A SKCM-US 3 129236373 129236373 single base substitution C T 3_prime_UTR_variant SKCM-US 3 129236373 129236373 single base substitution C T downstream_gene_variant SKCM-US 3 129236373 129236373 single base substitution C T exon_variant SKCM-US 3 129236373 129236373 single base substitution C T synonymous_variant S1050S 3150C>T SKCM-US 3 129236373 129236373 single base substitution C T synonymous_variant S1102S 3306C>T SKCM-US 3 129236373 129236373 single base substitution C T synonymous_variant S1109S 3327C>T SKCM-US 3 129236373 129236373 single base substitution C T synonymous_variant S1160S 3480C>T SKCM-US 3 129236373 129236373 single base substitution C T synonymous_variant S900S 2700C>T SKCM-US 3 129236373 129236373 single base substitution C T synonymous_variant S959S 2877C>T SKCM-US 3 129236373 129236373 single base substitution C T synonymous_variant S986S 2958C>T SKCM-US 3 129236373 129236373 single base substitution C T synonymous_variant S999S 2997C>T SKCM-US 3 129237958 129237958 single base substitution A G 3_prime_UTR_variant SKCM-US 3 129237958 129237958 single base substitution A G downstream_gene_variant SKCM-US 3 129237958 129237958 single base substitution A G exon_variant SKCM-US 3 129237958 129237958 single base substitution A G missense_variant I1011V 3031A>G SKCM-US 3 129237958 129237958 single base substitution A G missense_variant I1024V 3070A>G SKCM-US 3 129237958 129237958 single base substitution A G missense_variant I1075V 3223A>G SKCM-US 3 129237958 129237958 single base substitution A G missense_variant I1127V 3379A>G SKCM-US 3 129237958 129237958 single base substitution A G missense_variant I1134V 3400A>G SKCM-US 3 129237958 129237958 single base substitution A G missense_variant I1185V 3553A>G SKCM-US 3 129237958 129237958 single base substitution A G missense_variant I925V 2773A>G SKCM-US 3 129237958 129237958 single base substitution A G missense_variant I984V 2950A>G SKCM-US 3 129237967 129237967 single base substitution C T 3_prime_UTR_variant SKCM-US 3 129237967 129237967 single base substitution C T downstream_gene_variant SKCM-US 3 129237967 129237967 single base substitution C T exon_variant SKCM-US 3 129237967 129237967 single base substitution C T synonymous_variant L1014L 3040C>T SKCM-US 3 129237967 129237967 single base substitution C T synonymous_variant L1027L 3079C>T SKCM-US 3 129237967 129237967 single base substitution C T synonymous_variant L1078L 3232C>T SKCM-US 3 129237967 129237967 single base substitution C T synonymous_variant L1130L 3388C>T SKCM-US 3 129237967 129237967 single base substitution C T synonymous_variant L1137L 3409C>T SKCM-US 3 129237967 129237967 single base substitution C T synonymous_variant L1188L 3562C>T SKCM-US 3 129237967 129237967 single base substitution C T synonymous_variant L928L 2782C>T SKCM-US 3 129237967 129237967 single base substitution C T synonymous_variant L987L 2959C>T SKCM-US 3 129238473 129238473 single base substitution C T 3_prime_UTR_variant SKCM-US 3 129238473 129238473 single base substitution C T downstream_gene_variant SKCM-US 3 129238473 129238473 single base substitution C T exon_variant SKCM-US 3 129238473 129238473 single base substitution C T synonymous_variant R1028R 3084C>T SKCM-US 3 129238473 129238473 single base substitution C T synonymous_variant R1055R 3165C>T SKCM-US 3 129238473 129238473 single base substitution C T synonymous_variant R1068R 3204C>T SKCM-US 3 129238473 129238473 single base substitution C T synonymous_variant R1119R 3357C>T SKCM-US 3 129238473 129238473 single base substitution C T synonymous_variant R1171R 3513C>T SKCM-US 3 129238473 129238473 single base substitution C T synonymous_variant R1178R 3534C>T SKCM-US 3 129238473 129238473 single base substitution C T synonymous_variant R1229R 3687C>T SKCM-US 3 129238473 129238473 single base substitution C T synonymous_variant R969R 2907C>T SKCM-US 3 129238505 129238505 single base substitution C T 3_prime_UTR_variant SKCM-US 3 129238505 129238505 single base substitution C T downstream_gene_variant SKCM-US 3 129238505 129238505 single base substitution C T exon_variant SKCM-US 3 129238505 129238505 single base substitution C T missense_variant P1039L 3116C>T SKCM-US 3 129238505 129238505 single base substitution C T missense_variant P1066L 3197C>T SKCM-US 3 129238505 129238505 single base substitution C T missense_variant P1079L 3236C>T SKCM-US 3 129238505 129238505 single base substitution C T missense_variant P1130L 3389C>T SKCM-US 3 129238505 129238505 single base substitution C T missense_variant P1182L 3545C>T SKCM-US 3 129238505 129238505 single base substitution C T missense_variant P1189L 3566C>T SKCM-US 3 129238505 129238505 single base substitution C T missense_variant P1240L 3719C>T SKCM-US 3 129238505 129238505 single base substitution C T missense_variant P980L 2939C>T STAD-US 3 129155520 129155520 single base substitution A C upstream_gene_variant STAD-US 3 129156137 129156137 single base substitution T G upstream_gene_variant STAD-US 3 129156711 129156711 single base substitution G A upstream_gene_variant STAD-US 3 129180108 129180108 single base substitution A G 3_prime_UTR_variant STAD-US 3 129180108 129180108 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant STAD-US 3 129180108 129180108 single base substitution A G exon_variant STAD-US 3 129180108 129180108 single base substitution A G intron_variant STAD-US 3 129180108 129180108 single base substitution A G missense_variant I104V 310A>G STAD-US 3 129180108 129180108 single base substitution A G missense_variant I155V 463A>G STAD-US 3 129180108 129180108 single base substitution A G missense_variant I55V 163A>G STAD-US 3 129180108 129180108 single base substitution A G missense_variant I90V 268A>G STAD-US 3 129180108 129180108 single base substitution A G synonymous_variant L63L 189A>G STAD-US 3 129180108 129180108 single base substitution A G upstream_gene_variant STAD-US 3 129182431 129182431 single base substitution C G 3_prime_UTR_variant STAD-US 3 129182431 129182431 single base substitution C G 5_prime_UTR_variant STAD-US 3 129182431 129182431 single base substitution C G downstream_gene_variant STAD-US 3 129182431 129182431 single base substitution C G exon_variant STAD-US 3 129182431 129182431 single base substitution C G intron_variant STAD-US 3 129182431 129182431 single base substitution C G missense_variant S86C 257C>G STAD-US 3 129182431 129182431 single base substitution C G synonymous_variant V112V 336C>G STAD-US 3 129182431 129182431 single base substitution C G synonymous_variant V126V 378C>G STAD-US 3 129182431 129182431 single base substitution C G synonymous_variant V177V 531C>G STAD-US 3 129182431 129182431 single base substitution C G synonymous_variant V60V 180C>G STAD-US 3 129182431 129182431 single base substitution C G synonymous_variant V74V 222C>G STAD-US 3 129182431 129182431 single base substitution C G synonymous_variant V77V 231C>G STAD-US 3 129182431 129182431 single base substitution C G synonymous_variant V79V 237C>G STAD-US 3 129183577 129183577 insertion of <=200bp - G 3_prime_UTR_variant STAD-US 3 129183577 129183577 insertion of <=200bp - G downstream_gene_variant STAD-US 3 129183577 129183577 insertion of <=200bp - G exon_variant STAD-US 3 129183577 129183577 insertion of <=200bp - G frameshift_variant P120P? STAD-US 3 129183577 129183577 insertion of <=200bp - G frameshift_variant P125P? STAD-US 3 129183577 129183577 insertion of <=200bp - G frameshift_variant P172P? STAD-US 3 129183577 129183577 insertion of <=200bp - G frameshift_variant P223P? STAD-US 3 129183577 129183577 insertion of <=200bp - G frameshift_variant P22P? STAD-US 3 129183577 129183577 insertion of <=200bp - G intron_variant STAD-US 3 129185775 129185775 single base substitution C T 3_prime_UTR_variant STAD-US 3 129185775 129185775 single base substitution C T downstream_gene_variant STAD-US 3 129185775 129185775 single base substitution C T intron_variant STAD-US 3 129185775 129185775 single base substitution C T synonymous_variant A202A 606C>T STAD-US 3 129185775 129185775 single base substitution C T synonymous_variant A253A 759C>T STAD-US 3 129185775 129185775 single base substitution C T synonymous_variant A52A 156C>T STAD-US 3 129185901 129185901 single base substitution C T 3_prime_UTR_variant STAD-US 3 129185901 129185901 single base substitution C T downstream_gene_variant STAD-US 3 129185901 129185901 single base substitution C T intron_variant STAD-US 3 129185901 129185901 single base substitution C T synonymous_variant D244D 732C>T STAD-US 3 129185901 129185901 single base substitution C T synonymous_variant D295D 885C>T STAD-US 3 129185901 129185901 single base substitution C T synonymous_variant D94D 282C>T STAD-US 3 129195221 129195221 single base substitution T C 3_prime_UTR_variant STAD-US 3 129195221 129195221 single base substitution T C exon_variant STAD-US 3 129195221 129195221 single base substitution T C missense_variant Y120H 358T>C STAD-US 3 129195221 129195221 single base substitution T C missense_variant Y144H 430T>C STAD-US 3 129195221 129195221 single base substitution T C missense_variant Y172H 514T>C STAD-US 3 129195221 129195221 single base substitution T C missense_variant Y183H 547T>C STAD-US 3 129195221 129195221 single base substitution T C missense_variant Y188H 562T>C STAD-US 3 129195221 129195221 single base substitution T C missense_variant Y235H 703T>C STAD-US 3 129195221 129195221 single base substitution T C missense_variant Y286H 856T>C STAD-US 3 129195221 129195221 single base substitution T C missense_variant Y294H 880T>C STAD-US 3 129195221 129195221 single base substitution T C missense_variant Y345H 1033T>C STAD-US 3 129195221 129195221 single base substitution T C missense_variant Y85H 253T>C STAD-US 3 129195221 129195221 single base substitution T C upstream_gene_variant STAD-US 3 129195527 129195527 single base substitution A G 3_prime_UTR_variant STAD-US 3 129195527 129195527 single base substitution A G downstream_gene_variant STAD-US 3 129195527 129195527 single base substitution A G exon_variant STAD-US 3 129195527 129195527 single base substitution A G missense_variant T135A 403A>G STAD-US 3 129195527 129195527 single base substitution A G missense_variant T170A 508A>G STAD-US 3 129195527 129195527 single base substitution A G missense_variant T194A 580A>G STAD-US 3 129195527 129195527 single base substitution A G missense_variant T222A 664A>G STAD-US 3 129195527 129195527 single base substitution A G missense_variant T233A 697A>G STAD-US 3 129195527 129195527 single base substitution A G missense_variant T238A 712A>G STAD-US 3 129195527 129195527 single base substitution A G missense_variant T285A 853A>G STAD-US 3 129195527 129195527 single base substitution A G missense_variant T336A 1006A>G STAD-US 3 129195527 129195527 single base substitution A G missense_variant T344A 1030A>G STAD-US 3 129195527 129195527 single base substitution A G missense_variant T395A 1183A>G STAD-US 3 129195527 129195527 single base substitution A G upstream_gene_variant STAD-US 3 129195557 129195557 single base substitution A G 3_prime_UTR_variant STAD-US 3 129195557 129195557 single base substitution A G downstream_gene_variant STAD-US 3 129195557 129195557 single base substitution A G exon_variant STAD-US 3 129195557 129195557 single base substitution A G missense_variant T145A 433A>G STAD-US 3 129195557 129195557 single base substitution A G missense_variant T180A 538A>G STAD-US 3 129195557 129195557 single base substitution A G missense_variant T204A 610A>G STAD-US 3 129195557 129195557 single base substitution A G missense_variant T232A 694A>G STAD-US 3 129195557 129195557 single base substitution A G missense_variant T243A 727A>G STAD-US 3 129195557 129195557 single base substitution A G missense_variant T248A 742A>G STAD-US 3 129195557 129195557 single base substitution A G missense_variant T295A 883A>G STAD-US 3 129195557 129195557 single base substitution A G missense_variant T346A 1036A>G STAD-US 3 129195557 129195557 single base substitution A G missense_variant T354A 1060A>G STAD-US 3 129195557 129195557 single base substitution A G missense_variant T405A 1213A>G STAD-US 3 129195557 129195557 single base substitution A G upstream_gene_variant STAD-US 3 129197018 129197018 single base substitution G A 3_prime_UTR_variant STAD-US 3 129197018 129197018 single base substitution G A downstream_gene_variant STAD-US 3 129197018 129197018 single base substitution G A exon_variant STAD-US 3 129197018 129197018 single base substitution G A missense_variant C227Y 680G>A STAD-US 3 129197018 129197018 single base substitution G A missense_variant C262Y 785G>A STAD-US 3 129197018 129197018 single base substitution G A missense_variant C286Y 857G>A STAD-US 3 129197018 129197018 single base substitution G A missense_variant C325Y 974G>A STAD-US 3 129197018 129197018 single base substitution G A missense_variant C330Y 989G>A STAD-US 3 129197018 129197018 single base substitution G A missense_variant C377Y 1130G>A STAD-US 3 129197018 129197018 single base substitution G A missense_variant C428Y 1283G>A STAD-US 3 129197018 129197018 single base substitution G A missense_variant C436Y 1307G>A STAD-US 3 129197018 129197018 single base substitution G A missense_variant C487Y 1460G>A STAD-US 3 129197018 129197018 single base substitution G A upstream_gene_variant STAD-US 3 129198657 129198657 single base substitution C T 3_prime_UTR_variant STAD-US 3 129198657 129198657 single base substitution C T downstream_gene_variant STAD-US 3 129198657 129198657 single base substitution C T exon_variant STAD-US 3 129198657 129198657 single base substitution C T synonymous_variant S251S 753C>T STAD-US 3 129198657 129198657 single base substitution C T synonymous_variant S286S 858C>T STAD-US 3 129198657 129198657 single base substitution C T synonymous_variant S310S 930C>T STAD-US 3 129198657 129198657 single base substitution C T synonymous_variant S349S 1047C>T STAD-US 3 129198657 129198657 single base substitution C T synonymous_variant S354S 1062C>T STAD-US 3 129198657 129198657 single base substitution C T synonymous_variant S401S 1203C>T STAD-US 3 129198657 129198657 single base substitution C T synonymous_variant S452S 1356C>T STAD-US 3 129198657 129198657 single base substitution C T synonymous_variant S460S 1380C>T STAD-US 3 129198657 129198657 single base substitution C T synonymous_variant S511S 1533C>T STAD-US 3 129198657 129198657 single base substitution C T upstream_gene_variant STAD-US 3 129198669 129198669 single base substitution G A 3_prime_UTR_variant STAD-US 3 129198669 129198669 single base substitution G A downstream_gene_variant STAD-US 3 129198669 129198669 single base substitution G A exon_variant STAD-US 3 129198669 129198669 single base substitution G A synonymous_variant E255E 765G>A STAD-US 3 129198669 129198669 single base substitution G A synonymous_variant E290E 870G>A STAD-US 3 129198669 129198669 single base substitution G A synonymous_variant E314E 942G>A STAD-US 3 129198669 129198669 single base substitution G A synonymous_variant E353E 1059G>A STAD-US 3 129198669 129198669 single base substitution G A synonymous_variant E358E 1074G>A STAD-US 3 129198669 129198669 single base substitution G A synonymous_variant E405E 1215G>A STAD-US 3 129198669 129198669 single base substitution G A synonymous_variant E456E 1368G>A STAD-US 3 129198669 129198669 single base substitution G A synonymous_variant E464E 1392G>A STAD-US 3 129198669 129198669 single base substitution G A synonymous_variant E515E 1545G>A STAD-US 3 129198669 129198669 single base substitution G A upstream_gene_variant STAD-US 3 129202433 129202433 single base substitution C T 3_prime_UTR_variant STAD-US 3 129202433 129202433 single base substitution C T downstream_gene_variant STAD-US 3 129202433 129202433 single base substitution C T exon_variant STAD-US 3 129202433 129202433 single base substitution C T missense_variant R102W 304C>T STAD-US 3 129202433 129202433 single base substitution C T missense_variant R378W 1132C>T STAD-US 3 129202433 129202433 single base substitution C T missense_variant R437W 1309C>T STAD-US 3 129202433 129202433 single base substitution C T missense_variant R476W 1426C>T STAD-US 3 129202433 129202433 single base substitution C T missense_variant R481W 1441C>T STAD-US 3 129202433 129202433 single base substitution C T missense_variant R528W 1582C>T STAD-US 3 129202433 129202433 single base substitution C T missense_variant R579W 1735C>T STAD-US 3 129202433 129202433 single base substitution C T missense_variant R587W 1759C>T STAD-US 3 129202433 129202433 single base substitution C T missense_variant R638W 1912C>T STAD-US 3 129202433 129202433 single base substitution C T upstream_gene_variant STAD-US 3 129202444 129202444 single base substitution G A 3_prime_UTR_variant STAD-US 3 129202444 129202444 single base substitution G A downstream_gene_variant STAD-US 3 129202444 129202444 single base substitution G A exon_variant STAD-US 3 129202444 129202444 single base substitution G A synonymous_variant L105L 315G>A STAD-US 3 129202444 129202444 single base substitution G A synonymous_variant L381L 1143G>A STAD-US 3 129202444 129202444 single base substitution G A synonymous_variant L440L 1320G>A STAD-US 3 129202444 129202444 single base substitution G A synonymous_variant L479L 1437G>A STAD-US 3 129202444 129202444 single base substitution G A synonymous_variant L484L 1452G>A STAD-US 3 129202444 129202444 single base substitution G A synonymous_variant L531L 1593G>A STAD-US 3 129202444 129202444 single base substitution G A synonymous_variant L582L 1746G>A STAD-US 3 129202444 129202444 single base substitution G A synonymous_variant L590L 1770G>A STAD-US 3 129202444 129202444 single base substitution G A synonymous_variant L641L 1923G>A STAD-US 3 129202444 129202444 single base substitution G A upstream_gene_variant STAD-US 3 129211008 129211008 single base substitution C T 3_prime_UTR_variant STAD-US 3 129211008 129211008 single base substitution C T exon_variant STAD-US 3 129211008 129211008 single base substitution C T intron_variant STAD-US 3 129211008 129211008 single base substitution C T stop_gained R464* 1390C>T STAD-US 3 129211008 129211008 single base substitution C T stop_gained R523* 1567C>T STAD-US 3 129211008 129211008 single base substitution C T stop_gained R562* 1684C>T STAD-US 3 129211008 129211008 single base substitution C T stop_gained R614* 1840C>T STAD-US 3 129211008 129211008 single base substitution C T stop_gained R665* 1993C>T STAD-US 3 129211008 129211008 single base substitution C T stop_gained R673* 2017C>T STAD-US 3 129211008 129211008 single base substitution C T stop_gained R724* 2170C>T STAD-US 3 129211008 129211008 single base substitution C T upstream_gene_variant STAD-US 3 129214425 129214425 single base substitution A G 3_prime_UTR_variant STAD-US 3 129214425 129214425 single base substitution A G downstream_gene_variant STAD-US 3 129214425 129214425 single base substitution A G exon_variant STAD-US 3 129214425 129214425 single base substitution A G intron_variant STAD-US 3 129214425 129214425 single base substitution A G missense_variant D225G 674A>G STAD-US 3 129214425 129214425 single base substitution A G missense_variant D519G 1556A>G STAD-US 3 129214425 129214425 single base substitution A G missense_variant D578G 1733A>G STAD-US 3 129214425 129214425 single base substitution A G missense_variant D604G 1811A>G STAD-US 3 129214425 129214425 single base substitution A G missense_variant D617G 1850A>G STAD-US 3 129214425 129214425 single base substitution A G missense_variant D669G 2006A>G STAD-US 3 129214425 129214425 single base substitution A G missense_variant D720G 2159A>G STAD-US 3 129214425 129214425 single base substitution A G missense_variant D728G 2183A>G STAD-US 3 129214425 129214425 single base substitution A G missense_variant D779G 2336A>G STAD-US 3 129214425 129214425 single base substitution A G missense_variant D90G 269A>G STAD-US 3 129221612 129221612 single base substitution G A 3_prime_UTR_variant STAD-US 3 129221612 129221612 single base substitution G A downstream_gene_variant STAD-US 3 129221612 129221612 single base substitution G A exon_variant STAD-US 3 129221612 129221612 single base substitution G A missense_variant A309T 925G>A STAD-US 3 129221612 129221612 single base substitution G A missense_variant A603T 1807G>A STAD-US 3 129221612 129221612 single base substitution G A missense_variant A662T 1984G>A STAD-US 3 129221612 129221612 single base substitution G A missense_variant A688T 2062G>A STAD-US 3 129221612 129221612 single base substitution G A missense_variant A701T 2101G>A STAD-US 3 129221612 129221612 single base substitution G A missense_variant A753T 2257G>A STAD-US 3 129221612 129221612 single base substitution G A missense_variant A804T 2410G>A STAD-US 3 129221612 129221612 single base substitution G A missense_variant A812T 2434G>A STAD-US 3 129221612 129221612 single base substitution G A missense_variant A863T 2587G>A STAD-US 3 129221675 129221675 single base substitution G A 3_prime_UTR_variant STAD-US 3 129221675 129221675 single base substitution G A downstream_gene_variant STAD-US 3 129221675 129221675 single base substitution G A exon_variant STAD-US 3 129221675 129221675 single base substitution G A missense_variant D330N 988G>A STAD-US 3 129221675 129221675 single base substitution G A missense_variant D624N 1870G>A STAD-US 3 129221675 129221675 single base substitution G A missense_variant D683N 2047G>A STAD-US 3 129221675 129221675 single base substitution G A missense_variant D709N 2125G>A STAD-US 3 129221675 129221675 single base substitution G A missense_variant D722N 2164G>A STAD-US 3 129221675 129221675 single base substitution G A missense_variant D774N 2320G>A STAD-US 3 129221675 129221675 single base substitution G A missense_variant D825N 2473G>A STAD-US 3 129221675 129221675 single base substitution G A missense_variant D833N 2497G>A STAD-US 3 129221675 129221675 single base substitution G A missense_variant D884N 2650G>A STAD-US 3 129226544 129226544 single base substitution T G 3_prime_UTR_variant STAD-US 3 129226544 129226544 single base substitution T G downstream_gene_variant STAD-US 3 129226544 129226544 single base substitution T G exon_variant STAD-US 3 129226544 129226544 single base substitution T G missense_variant F733C 2198T>G STAD-US 3 129226544 129226544 single base substitution T G missense_variant F792C 2375T>G STAD-US 3 129226544 129226544 single base substitution T G missense_variant F819C 2456T>G STAD-US 3 129226544 129226544 single base substitution T G missense_variant F832C 2495T>G STAD-US 3 129226544 129226544 single base substitution T G missense_variant F883C 2648T>G STAD-US 3 129226544 129226544 single base substitution T G missense_variant F935C 2804T>G STAD-US 3 129226544 129226544 single base substitution T G missense_variant F942C 2825T>G STAD-US 3 129226544 129226544 single base substitution T G missense_variant F993C 2978T>G STAD-US 3 129226544 129226544 single base substitution T G upstream_gene_variant STAD-US 3 129226602 129226602 single base substitution C G 3_prime_UTR_variant STAD-US 3 129226602 129226602 single base substitution C G downstream_gene_variant STAD-US 3 129226602 129226602 single base substitution C G exon_variant STAD-US 3 129226602 129226602 single base substitution C G missense_variant H1012Q 3036C>G STAD-US 3 129226602 129226602 single base substitution C G missense_variant H752Q 2256C>G STAD-US 3 129226602 129226602 single base substitution C G missense_variant H811Q 2433C>G STAD-US 3 129226602 129226602 single base substitution C G missense_variant H838Q 2514C>G STAD-US 3 129226602 129226602 single base substitution C G missense_variant H851Q 2553C>G STAD-US 3 129226602 129226602 single base substitution C G missense_variant H902Q 2706C>G STAD-US 3 129226602 129226602 single base substitution C G missense_variant H954Q 2862C>G STAD-US 3 129226602 129226602 single base substitution C G missense_variant H961Q 2883C>G STAD-US 3 129226602 129226602 single base substitution C G upstream_gene_variant STAD-US 3 129231177 129231177 single base substitution G A 3_prime_UTR_variant STAD-US 3 129231177 129231177 single base substitution G A exon_variant STAD-US 3 129231177 129231177 single base substitution G A missense_variant R1021H 3062G>A STAD-US 3 129231177 129231177 single base substitution G A missense_variant R761H 2282G>A STAD-US 3 129231177 129231177 single base substitution G A missense_variant R820H 2459G>A STAD-US 3 129231177 129231177 single base substitution G A missense_variant R847H 2540G>A STAD-US 3 129231177 129231177 single base substitution G A missense_variant R860H 2579G>A STAD-US 3 129231177 129231177 single base substitution G A missense_variant R911H 2732G>A STAD-US 3 129231177 129231177 single base substitution G A missense_variant R963H 2888G>A STAD-US 3 129231177 129231177 single base substitution G A missense_variant R970H 2909G>A STAD-US 3 129231177 129231177 single base substitution G A upstream_gene_variant STAD-US 3 129231234 129231234 deletion of <=200bp C - 3_prime_UTR_variant STAD-US 3 129231234 129231234 deletion of <=200bp C - exon_variant STAD-US 3 129231234 129231234 deletion of <=200bp C - frameshift_variant T1040 STAD-US 3 129231234 129231234 deletion of <=200bp C - frameshift_variant T780 STAD-US 3 129231234 129231234 deletion of <=200bp C - frameshift_variant T839 STAD-US 3 129231234 129231234 deletion of <=200bp C - frameshift_variant T866 STAD-US 3 129231234 129231234 deletion of <=200bp C - frameshift_variant T879 STAD-US 3 129231234 129231234 deletion of <=200bp C - frameshift_variant T930 STAD-US 3 129231234 129231234 deletion of <=200bp C - frameshift_variant T982 STAD-US 3 129231234 129231234 deletion of <=200bp C - frameshift_variant T989 STAD-US 3 129231237 129231237 single base substitution C T 3_prime_UTR_variant STAD-US 3 129231237 129231237 single base substitution C T exon_variant STAD-US 3 129231237 129231237 single base substitution C T missense_variant P1041L 3122C>T STAD-US 3 129231237 129231237 single base substitution C T missense_variant P781L 2342C>T STAD-US 3 129231237 129231237 single base substitution C T missense_variant P840L 2519C>T STAD-US 3 129231237 129231237 single base substitution C T missense_variant P867L 2600C>T STAD-US 3 129231237 129231237 single base substitution C T missense_variant P880L 2639C>T STAD-US 3 129231237 129231237 single base substitution C T missense_variant P931L 2792C>T STAD-US 3 129231237 129231237 single base substitution C T missense_variant P983L 2948C>T STAD-US 3 129231237 129231237 single base substitution C T missense_variant P990L 2969C>T STAD-US 3 129233240 129233240 single base substitution T A 3_prime_UTR_variant STAD-US 3 129233240 129233240 single base substitution T A exon_variant STAD-US 3 129233240 129233240 single base substitution T A missense_variant L1050H 3149T>A STAD-US 3 129233240 129233240 single base substitution T A missense_variant L790H 2369T>A STAD-US 3 129233240 129233240 single base substitution T A missense_variant L849H 2546T>A STAD-US 3 129233240 129233240 single base substitution T A missense_variant L876H 2627T>A STAD-US 3 129233240 129233240 single base substitution T A missense_variant L889H 2666T>A STAD-US 3 129233240 129233240 single base substitution T A missense_variant L940H 2819T>A STAD-US 3 129233240 129233240 single base substitution T A missense_variant L992H 2975T>A STAD-US 3 129233240 129233240 single base substitution T A missense_variant L999H 2996T>A STAD-US 3 129233274 129233274 single base substitution T C 3_prime_UTR_variant STAD-US 3 129233274 129233274 single base substitution T C exon_variant STAD-US 3 129233274 129233274 single base substitution T C synonymous_variant G1003G 3009T>C STAD-US 3 129233274 129233274 single base substitution T C synonymous_variant G1010G 3030T>C STAD-US 3 129233274 129233274 single base substitution T C synonymous_variant G1061G 3183T>C STAD-US 3 129233274 129233274 single base substitution T C synonymous_variant G801G 2403T>C STAD-US 3 129233274 129233274 single base substitution T C synonymous_variant G860G 2580T>C STAD-US 3 129233274 129233274 single base substitution T C synonymous_variant G887G 2661T>C STAD-US 3 129233274 129233274 single base substitution T C synonymous_variant G900G 2700T>C STAD-US 3 129233274 129233274 single base substitution T C synonymous_variant G951G 2853T>C STAD-US 3 129238561 129238561 single base substitution C A 3_prime_UTR_variant STAD-US 3 129238561 129238561 single base substitution C A downstream_gene_variant STAD-US 3 129238561 129238561 single base substitution C A exon_variant STAD-US 3 129238561 129238561 single base substitution C A missense_variant P1058T 3172C>A STAD-US 3 129238561 129238561 single base substitution C A missense_variant P1085T 3253C>A STAD-US 3 129238561 129238561 single base substitution C A missense_variant P1098T 3292C>A STAD-US 3 129238561 129238561 single base substitution C A missense_variant P1149T 3445C>A STAD-US 3 129238561 129238561 single base substitution C A missense_variant P1201T 3601C>A STAD-US 3 129238561 129238561 single base substitution C A missense_variant P1208T 3622C>A STAD-US 3 129238561 129238561 single base substitution C A missense_variant P1259T 3775C>A STAD-US 3 129238561 129238561 single base substitution C A missense_variant P999T 2995C>A STAD-US 3 129239022 129239022 single base substitution T G 3_prime_UTR_variant STAD-US 3 129239022 129239022 single base substitution T G exon_variant STAD-US 3 129239022 129239022 single base substitution T G missense_variant F1005V 3013T>G STAD-US 3 129239022 129239022 single base substitution T G missense_variant F1064V 3190T>G STAD-US 3 129239022 129239022 single base substitution T G missense_variant F1091V 3271T>G STAD-US 3 129239022 129239022 single base substitution T G missense_variant F1104V 3310T>G STAD-US 3 129239022 129239022 single base substitution T G missense_variant F1155V 3463T>G STAD-US 3 129239022 129239022 single base substitution T G missense_variant F1207V 3619T>G STAD-US 3 129239022 129239022 single base substitution T G missense_variant F1214V 3640T>G STAD-US 3 129239022 129239022 single base substitution T G missense_variant F1265V 3793T>G THCA-SA 3 129214302 129214302 single base substitution G A 3_prime_UTR_variant THCA-SA 3 129214302 129214302 single base substitution G A exon_variant THCA-SA 3 129214302 129214302 single base substitution G A intron_variant THCA-SA 3 129214302 129214302 single base substitution G A missense_variant R184Q 551G>A THCA-SA 3 129214302 129214302 single base substitution G A missense_variant R478Q 1433G>A THCA-SA 3 129214302 129214302 single base substitution G A missense_variant R49Q 146G>A THCA-SA 3 129214302 129214302 single base substitution G A missense_variant R537Q 1610G>A THCA-SA 3 129214302 129214302 single base substitution G A missense_variant R563Q 1688G>A THCA-SA 3 129214302 129214302 single base substitution G A missense_variant R576Q 1727G>A THCA-SA 3 129214302 129214302 single base substitution G A missense_variant R628Q 1883G>A THCA-SA 3 129214302 129214302 single base substitution G A missense_variant R679Q 2036G>A THCA-SA 3 129214302 129214302 single base substitution G A missense_variant R687Q 2060G>A THCA-SA 3 129214302 129214302 single base substitution G A missense_variant R738Q 2213G>A THCA-SA 3 129214358 129214358 single base substitution T C 3_prime_UTR_variant THCA-SA 3 129214358 129214358 single base substitution T C downstream_gene_variant THCA-SA 3 129214358 129214358 single base substitution T C exon_variant THCA-SA 3 129214358 129214358 single base substitution T C intron_variant THCA-SA 3 129214358 129214358 single base substitution T C missense_variant F203L 607T>C THCA-SA 3 129214358 129214358 single base substitution T C missense_variant F497L 1489T>C THCA-SA 3 129214358 129214358 single base substitution T C missense_variant F556L 1666T>C THCA-SA 3 129214358 129214358 single base substitution T C missense_variant F582L 1744T>C THCA-SA 3 129214358 129214358 single base substitution T C missense_variant F595L 1783T>C THCA-SA 3 129214358 129214358 single base substitution T C missense_variant F647L 1939T>C THCA-SA 3 129214358 129214358 single base substitution T C missense_variant F68L 202T>C THCA-SA 3 129214358 129214358 single base substitution T C missense_variant F698L 2092T>C THCA-SA 3 129214358 129214358 single base substitution T C missense_variant F706L 2116T>C THCA-SA 3 129214358 129214358 single base substitution T C missense_variant F757L 2269T>C THCA-SA 3 129214369 129214369 single base substitution C T 3_prime_UTR_variant THCA-SA 3 129214369 129214369 single base substitution C T downstream_gene_variant THCA-SA 3 129214369 129214369 single base substitution C T exon_variant THCA-SA 3 129214369 129214369 single base substitution C T intron_variant THCA-SA 3 129214369 129214369 single base substitution C T synonymous_variant A206A 618C>T THCA-SA 3 129214369 129214369 single base substitution C T synonymous_variant A500A 1500C>T THCA-SA 3 129214369 129214369 single base substitution C T synonymous_variant A559A 1677C>T THCA-SA 3 129214369 129214369 single base substitution C T synonymous_variant A585A 1755C>T THCA-SA 3 129214369 129214369 single base substitution C T synonymous_variant A598A 1794C>T THCA-SA 3 129214369 129214369 single base substitution C T synonymous_variant A650A 1950C>T THCA-SA 3 129214369 129214369 single base substitution C T synonymous_variant A701A 2103C>T THCA-SA 3 129214369 129214369 single base substitution C T synonymous_variant A709A 2127C>T THCA-SA 3 129214369 129214369 single base substitution C T synonymous_variant A71A 213C>T THCA-SA 3 129214369 129214369 single base substitution C T synonymous_variant A760A 2280C>T THCA-US 3 129207071 129207071 single base substitution T C 5_prime_UTR_variant THCA-US 3 129207071 129207071 single base substitution T C downstream_gene_variant THCA-US 3 129207071 129207071 single base substitution T C intron_variant UCEC-US 3 129155355 129155355 single base substitution G A upstream_gene_variant UCEC-US 3 129155413 129155413 single base substitution G A upstream_gene_variant UCEC-US 3 129155690 129155690 single base substitution G T upstream_gene_variant UCEC-US 3 129156083 129156083 single base substitution G T upstream_gene_variant UCEC-US 3 129156119 129156119 single base substitution G T upstream_gene_variant UCEC-US 3 129156651 129156651 single base substitution G A upstream_gene_variant UCEC-US 3 129156756 129156756 single base substitution C A upstream_gene_variant UCEC-US 3 129158616 129158616 single base substitution T C upstream_gene_variant UCEC-US 3 129180095 129180095 single base substitution C A 3_prime_UTR_variant UCEC-US 3 129180095 129180095 single base substitution C A 5_prime_UTR_variant UCEC-US 3 129180095 129180095 single base substitution C A exon_variant UCEC-US 3 129180095 129180095 single base substitution C A intron_variant UCEC-US 3 129180095 129180095 single base substitution C A missense_variant S59Y 176C>A UCEC-US 3 129180095 129180095 single base substitution C A synonymous_variant V150V 450C>A UCEC-US 3 129180095 129180095 single base substitution C A synonymous_variant V50V 150C>A UCEC-US 3 129180095 129180095 single base substitution C A synonymous_variant V85V 255C>A UCEC-US 3 129180095 129180095 single base substitution C A synonymous_variant V99V 297C>A UCEC-US 3 129180095 129180095 single base substitution C A upstream_gene_variant UCEC-US 3 129183537 129183537 single base substitution G A 3_prime_UTR_variant UCEC-US 3 129183537 129183537 single base substitution G A downstream_gene_variant UCEC-US 3 129183537 129183537 single base substitution G A exon_variant UCEC-US 3 129183537 129183537 single base substitution G A intron_variant UCEC-US 3 129183537 129183537 single base substitution G A missense_variant R107Q 320G>A UCEC-US 3 129183537 129183537 single base substitution G A missense_variant R112Q 335G>A UCEC-US 3 129183537 129183537 single base substitution G A missense_variant R159Q 476G>A UCEC-US 3 129183537 129183537 single base substitution G A missense_variant R210Q 629G>A UCEC-US 3 129183537 129183537 single base substitution G A missense_variant R9Q 26G>A UCEC-US 3 129188193 129188193 single base substitution G A 3_prime_UTR_variant UCEC-US 3 129188193 129188193 single base substitution G A downstream_gene_variant UCEC-US 3 129188193 129188193 single base substitution G A exon_variant UCEC-US 3 129188193 129188193 single base substitution G A missense_variant R100H 299G>A UCEC-US 3 129188193 129188193 single base substitution G A missense_variant R128H 383G>A UCEC-US 3 129188193 129188193 single base substitution G A missense_variant R139H 416G>A UCEC-US 3 129188193 129188193 single base substitution G A missense_variant R144H 431G>A UCEC-US 3 129188193 129188193 single base substitution G A missense_variant R191H 572G>A UCEC-US 3 129188193 129188193 single base substitution G A missense_variant R242H 725G>A UCEC-US 3 129188193 129188193 single base substitution G A missense_variant R250H 749G>A UCEC-US 3 129188193 129188193 single base substitution G A missense_variant R301H 902G>A UCEC-US 3 129188193 129188193 single base substitution G A missense_variant R41H 122G>A UCEC-US 3 129188193 129188193 single base substitution G A missense_variant R76H 227G>A UCEC-US 3 129196904 129196904 single base substitution G T 3_prime_UTR_variant UCEC-US 3 129196904 129196904 single base substitution G T downstream_gene_variant UCEC-US 3 129196904 129196904 single base substitution G T exon_variant UCEC-US 3 129196904 129196904 single base substitution G T missense_variant R189I 566G>T UCEC-US 3 129196904 129196904 single base substitution G T missense_variant R224I 671G>T UCEC-US 3 129196904 129196904 single base substitution G T missense_variant R248I 743G>T UCEC-US 3 129196904 129196904 single base substitution G T missense_variant R287I 860G>T UCEC-US 3 129196904 129196904 single base substitution G T missense_variant R292I 875G>T UCEC-US 3 129196904 129196904 single base substitution G T missense_variant R339I 1016G>T UCEC-US 3 129196904 129196904 single base substitution G T missense_variant R390I 1169G>T UCEC-US 3 129196904 129196904 single base substitution G T missense_variant R398I 1193G>T UCEC-US 3 129196904 129196904 single base substitution G T missense_variant R449I 1346G>T UCEC-US 3 129196904 129196904 single base substitution G T upstream_gene_variant UCEC-US 3 129200408 129200408 single base substitution C T 3_prime_UTR_variant UCEC-US 3 129200408 129200408 single base substitution C T downstream_gene_variant UCEC-US 3 129200408 129200408 single base substitution C T exon_variant UCEC-US 3 129200408 129200408 single base substitution C T synonymous_variant I23I 69C>T UCEC-US 3 129200408 129200408 single base substitution C T synonymous_variant I299I 897C>T UCEC-US 3 129200408 129200408 single base substitution C T synonymous_variant I358I 1074C>T UCEC-US 3 129200408 129200408 single base substitution C T synonymous_variant I397I 1191C>T UCEC-US 3 129200408 129200408 single base substitution C T synonymous_variant I402I 1206C>T UCEC-US 3 129200408 129200408 single base substitution C T synonymous_variant I449I 1347C>T UCEC-US 3 129200408 129200408 single base substitution C T synonymous_variant I500I 1500C>T UCEC-US 3 129200408 129200408 single base substitution C T synonymous_variant I508I 1524C>T UCEC-US 3 129200408 129200408 single base substitution C T synonymous_variant I559I 1677C>T UCEC-US 3 129207046 129207046 single base substitution C A 5_prime_UTR_variant UCEC-US 3 129207046 129207046 single base substitution C A downstream_gene_variant UCEC-US 3 129207046 129207046 single base substitution C A intron_variant UCEC-US 3 129207085 129207085 single base substitution G A 5_prime_UTR_variant UCEC-US 3 129207085 129207085 single base substitution G A downstream_gene_variant UCEC-US 3 129207085 129207085 single base substitution G A intron_variant UCEC-US 3 129207157 129207157 single base substitution G A 3_prime_UTR_variant UCEC-US 3 129207157 129207157 single base substitution G A downstream_gene_variant UCEC-US 3 129207157 129207157 single base substitution G A exon_variant UCEC-US 3 129207157 129207157 single base substitution G A missense_variant A152T 454G>A UCEC-US 3 129207157 129207157 single base substitution G A missense_variant A17T 49G>A UCEC-US 3 129207157 129207157 single base substitution G A missense_variant A428T 1282G>A UCEC-US 3 129207157 129207157 single base substitution G A missense_variant A487T 1459G>A UCEC-US 3 129207157 129207157 single base substitution G A missense_variant A526T 1576G>A UCEC-US 3 129207157 129207157 single base substitution G A missense_variant A531T 1591G>A UCEC-US 3 129207157 129207157 single base substitution G A missense_variant A578T 1732G>A UCEC-US 3 129207157 129207157 single base substitution G A missense_variant A629T 1885G>A UCEC-US 3 129207157 129207157 single base substitution G A missense_variant A637T 1909G>A UCEC-US 3 129207157 129207157 single base substitution G A missense_variant A688T 2062G>A UCEC-US 3 129207187 129207187 single base substitution C T 3_prime_UTR_variant UCEC-US 3 129207187 129207187 single base substitution C T downstream_gene_variant UCEC-US 3 129207187 129207187 single base substitution C T exon_variant UCEC-US 3 129207187 129207187 single base substitution C T missense_variant R162C 484C>T UCEC-US 3 129207187 129207187 single base substitution C T missense_variant R27C 79C>T UCEC-US 3 129207187 129207187 single base substitution C T missense_variant R438C 1312C>T UCEC-US 3 129207187 129207187 single base substitution C T missense_variant R497C 1489C>T UCEC-US 3 129207187 129207187 single base substitution C T missense_variant R536C 1606C>T UCEC-US 3 129207187 129207187 single base substitution C T missense_variant R541C 1621C>T UCEC-US 3 129207187 129207187 single base substitution C T missense_variant R588C 1762C>T UCEC-US 3 129207187 129207187 single base substitution C T missense_variant R639C 1915C>T UCEC-US 3 129207187 129207187 single base substitution C T missense_variant R647C 1939C>T UCEC-US 3 129207187 129207187 single base substitution C T missense_variant R698C 2092C>T UCEC-US 3 129207237 129207237 single base substitution G T 3_prime_UTR_variant UCEC-US 3 129207237 129207237 single base substitution G T downstream_gene_variant UCEC-US 3 129207237 129207237 single base substitution G T exon_variant UCEC-US 3 129207237 129207237 single base substitution G T missense_variant K178N 534G>T UCEC-US 3 129207237 129207237 single base substitution G T missense_variant K43N 129G>T UCEC-US 3 129207237 129207237 single base substitution G T missense_variant K454N 1362G>T UCEC-US 3 129207237 129207237 single base substitution G T missense_variant K513N 1539G>T UCEC-US 3 129207237 129207237 single base substitution G T missense_variant K552N 1656G>T UCEC-US 3 129207237 129207237 single base substitution G T missense_variant K557N 1671G>T UCEC-US 3 129207237 129207237 single base substitution G T missense_variant K604N 1812G>T UCEC-US 3 129207237 129207237 single base substitution G T missense_variant K655N 1965G>T UCEC-US 3 129207237 129207237 single base substitution G T missense_variant K663N 1989G>T UCEC-US 3 129207237 129207237 single base substitution G T missense_variant K714N 2142G>T UCEC-US 3 129214403 129214403 single base substitution C A 3_prime_UTR_variant UCEC-US 3 129214403 129214403 single base substitution C A downstream_gene_variant UCEC-US 3 129214403 129214403 single base substitution C A exon_variant UCEC-US 3 129214403 129214403 single base substitution C A intron_variant UCEC-US 3 129214403 129214403 single base substitution C A missense_variant L218I 652C>A UCEC-US 3 129214403 129214403 single base substitution C A missense_variant L512I 1534C>A UCEC-US 3 129214403 129214403 single base substitution C A missense_variant L571I 1711C>A UCEC-US 3 129214403 129214403 single base substitution C A missense_variant L597I 1789C>A UCEC-US 3 129214403 129214403 single base substitution C A missense_variant L610I 1828C>A UCEC-US 3 129214403 129214403 single base substitution C A missense_variant L662I 1984C>A UCEC-US 3 129214403 129214403 single base substitution C A missense_variant L713I 2137C>A UCEC-US 3 129214403 129214403 single base substitution C A missense_variant L721I 2161C>A UCEC-US 3 129214403 129214403 single base substitution C A missense_variant L772I 2314C>A UCEC-US 3 129214403 129214403 single base substitution C A missense_variant L83I 247C>A UCEC-US 3 129226560 129226560 deletion of <=200bp T - 3_prime_UTR_variant UCEC-US 3 129226560 129226560 deletion of <=200bp T - downstream_gene_variant UCEC-US 3 129226560 129226560 deletion of <=200bp T - exon_variant UCEC-US 3 129226560 129226560 deletion of <=200bp T - frameshift_variant R738 UCEC-US 3 129226560 129226560 deletion of <=200bp T - frameshift_variant R797 UCEC-US 3 129226560 129226560 deletion of <=200bp T - frameshift_variant R824 UCEC-US 3 129226560 129226560 deletion of <=200bp T - frameshift_variant R837 UCEC-US 3 129226560 129226560 deletion of <=200bp T - frameshift_variant R888 UCEC-US 3 129226560 129226560 deletion of <=200bp T - frameshift_variant R940 UCEC-US 3 129226560 129226560 deletion of <=200bp T - frameshift_variant R947 UCEC-US 3 129226560 129226560 deletion of <=200bp T - frameshift_variant R998 UCEC-US 3 129226560 129226560 deletion of <=200bp T - upstream_gene_variant UCEC-US 3 129236313 129236313 single base substitution C T downstream_gene_variant UCEC-US 3 129236313 129236313 single base substitution C T splice_region_variant UCEC-US 3 129239079 129239079 single base substitution C T 3_prime_UTR_variant UCEC-US 3 129239079 129239079 single base substitution C T exon_variant UCEC-US 3 129239079 129239079 single base substitution C T missense_variant R1024C 3070C>T UCEC-US 3 129239079 129239079 single base substitution C T missense_variant R1083C 3247C>T UCEC-US 3 129239079 129239079 single base substitution C T missense_variant R1110C 3328C>T UCEC-US 3 129239079 129239079 single base substitution C T missense_variant R1123C 3367C>T UCEC-US 3 129239079 129239079 single base substitution C T missense_variant R1174C 3520C>T UCEC-US 3 129239079 129239079 single base substitution C T missense_variant R1226C 3676C>T UCEC-US 3 129239079 129239079 single base substitution C T missense_variant R1233C 3697C>T UCEC-US 3 129239079 129239079 single base substitution C T missense_variant R1284C 3850C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-A5-A0GB-01 COSM1038099 c.2314C>A p.L772I Substitution - Missense 3:129495560-129495560 + SC_9072 COSM5563492 c.787C>T p.Q263* Substitution - Nonsense 3:129466960-129466960 + TCGA-AX-A0J0-01 COSM1038088 c.450C>A p.V150V Substitution - coding silent 3:129461252-129461252 + CHC1545T COSM4787514 c.91G>A p.A31T Substitution - Missense 3:129449920-129449920 + Pat_16_A COSM5863464 c.2869G>A p.V957M Substitution - Missense 3:129506474-129506474 + T368 COSM4691844 c.2192G>A p.S731N Substitution - Missense 3:129492187-129492187 + Pat_41_B COSM5863465 c.3086C>T p.S1029F Substitution - Missense 3:129512358-129512358 + TCGA-DS-A1OC-01 COSM1294086 c.186G>A p.A62A Substitution - coding silent 3:129451991-129451991 + PD11750a COSM5786498 c.533C>G p.S178C Substitution - Missense 3:129463590-129463590 + S00841 COSM317478 c.3513G>T p.R1171R Substitution - coding silent 3:129517563-129517563 + PA285 COSM1163325 c.2280C>T p.A760A Substitution - coding silent 3:129495526-129495526 + S00945 COSM311923 c.2199G>T p.E733D Substitution - Missense 3:129492194-129492194 + TCGA-MU-A51Y-01 COSM4836441 c.1754A>T p.E585V Substitution - Missense 3:129481642-129481642 + PCSI_0103_Pa_P COSM3380381 c.624C>T p.S208S Substitution - coding silent 3:129464689-129464689 + PD7240a COSM5781926 c.2486T>G p.V829G Substitution - Missense 3:129500026-129500026 + TCGA-DA-A3F3-06 COSM1693444 c.3191G>A p.R1064K Substitution - Missense 3:129514439-129514439 + TCGA-F5-6814-01 COSM3427029 c.50A>C p.D17A Substitution - Missense 3:129449879-129449879 + S00841 COSM317478 c.3513G>T p.R1171R Substitution - coding silent 3:129517563-129517563 + ESCC_61 COSM5632923 c.2178A>T p.L726F Substitution - Missense 3:129492173-129492173 + TCGA-D1-A17S-01 COSM1038094 c.2014A>T p.M672L Substitution - Missense 3:129488266-129488266 + CSCC-47-T COSM4528411 c.1535G>A p.G512E Substitution - Missense 3:129479816-129479816 + CSCC-27-T COSM3587204 c.683C>T p.S228L Substitution - Missense 3:129464748-129464748 + TCGA-66-2757-01 COSM728549 c.3691G>C p.D1231H Substitution - Missense 3:129519634-129519634 + SJHGG037_D COSM4970757 c.1630A>C p.K544Q Substitution - Missense 3:129479911-129479911 + TCGA-FR-A3YO-06 COSM3914873 c.1573C>T p.R525C Substitution - Missense 3:129479854-129479854 + PCSI_0083_Pa_X COSM3380382 c.1083T>C p.D361D Substitution - coding silent 3:129476428-129476428 + STC252 COSM5059280 c.2416G>A p.A806T Substitution - Missense 3:129499956-129499956 + S41_post COSM5574681 c.919G>C p.V307L Substitution - Missense 3:129469367-129469367 + TCGA-F4-6809-01 COSM1418823 c.237C>G p.I79M Substitution - Missense 3:129458642-129458642 + sysucc-1317T COSM5449781 c.2945-10C>T p.? Unknown 3:129507658-129507658 + TCGA-BR-8589-01 COSM4113330 c.1213A>G p.T405A Substitution - Missense 3:129476714-129476714 + 8053200 COSM1192333 c.1865C>T p.S622L Substitution - Missense 3:129483543-129483543 + CHC1545T COSM4787514 c.91G>A p.A31T Substitution - Missense 3:129449920-129449920 + TCGA-FW-A3R5-06 COSM3914871 c.54C>T p.I18I Substitution - coding silent 3:129449883-129449883 + TCGA-ER-A3PL-06 COSM3587207 c.1118C>T p.S373F Substitution - Missense 3:129476463-129476463 + pfg144T COSM4761257 c.1581C>G p.I527M Substitution - Missense 3:129479862-129479862 + SS6003317 COSM4054954 c.2446A>C p.K816Q Substitution - Missense 3:129499986-129499986 + SW48 COSM3060210 c.3594G>A p.E1198E Substitution - coding silent 3:129519156-129519156 + TCGA-D3-A3C1-06 COSM3587208 c.1245C>T p.A415A Substitution - coding silent 3:129476746-129476746 + CHC1040T COSM4799591 c.3827A>T p.Q1276L Substitution - Missense 3:129520213-129520213 + TCGA-EE-A3J5-06 COSM3587213 c.2316C>T p.L772L Substitution - coding silent 3:129495562-129495562 + TCGA-BR-4361-01 COSM4113331 c.1460G>A p.C487Y Substitution - Missense 3:129478175-129478175 + TARGET-20-PASWLN-09A-01D COSM5487389 c.3073C>A p.L1025I Substitution - Missense 3:129512345-129512345 + TCGA-BR-6452-01 COSM4113339 c.3036C>G p.H1012Q Substitution - Missense 3:129507759-129507759 + YUDEDE COSM1210299 c.2102C>T p.A701V Substitution - Missense 3:129488354-129488354 + SWE-40 COSM1179943 c.1911C>A p.H637Q Substitution - Missense 3:129483589-129483589 + TCGA-AA-3663-01 COSM3695686 c.8C>T p.A3V Substitution - Missense 3:129440338-129440338 + Gp2D COSM3060138 c.1090C>T p.R364W Substitution - Missense 3:129476435-129476435 + I2L-P31-Tumor-Organoid COSM5024769 c.2690G>A p.R897H Substitution - Missense 3:129502872-129502872 + TCGA-E1-5322-01 COSM3408217 c.2281G>A p.A761T Substitution - Missense 3:129495527-129495527 + PT50 COSM5937092 c.256G>A p.G86S Substitution - Missense 3:129458661-129458661 + TCGA-F1-6874-01 COSM3060153 c.1545G>A p.E515E Substitution - coding silent 3:129479826-129479826 + TCGA-A6-6653-01 COSM1418828 c.2382C>T p.D794D Substitution - coding silent 3:129499922-129499922 + TCGA-AP-A051-01 COSM1038096 c.2092C>T p.R698C Substitution - Missense 3:129488344-129488344 + 1_RESISTANT COSM1719120 c.3513G>A p.R1171R Substitution - coding silent 3:129517563-129517563 + TCGA-AG-3580-01 COSM287851 c.669G>A p.P223P Substitution - coding silent 3:129464734-129464734 + TCGA-18-5595-01 COSM728551 c.2989C>T p.Q997* Substitution - Nonsense 3:129507712-129507712 + TCGA-BR-8373-01 COSM4113337 c.2650G>A p.D884N Substitution - Missense 3:129502832-129502832 + HCC103T COSM3660179 c.185C>T p.A62V Substitution - Missense 3:129451990-129451990 + CN-AML-NR-23-Dx COSM1163325 c.2280C>T p.A760A Substitution - coding silent 3:129495526-129495526 + M14 COSM1670552 c.1190C>T p.S397F Substitution - Missense 3:129476691-129476691 + CSCC-38-T COSM4490943 c.3719C>T p.P1240L Substitution - Missense 3:129519662-129519662 + S00946 COSM311924 c.3833G>T p.G1278V Substitution - Missense 3:129520219-129520219 + TCGA-G9-6338-01 COSM3673841 c.3123C>A p.P1041P Substitution - coding silent 3:129512395-129512395 + T1154 COSM4611117 c.669delG p.G225fs*22 Deletion - Frameshift 3:129464734-129464734 + 2492702 COSM109680 c.660C>T p.I220I Substitution - coding silent 3:129464725-129464725 + TCGA-HU-A4H2-01 COSM4113325 c.463A>G p.I155V Substitution - Missense 3:129461265-129461265 + 10-276 COSM3736827 c.3779C>T p.S1260F Substitution - Missense 3:129519722-129519722 + U87 COSM1418827 c.2269T>C p.F757L Substitution - Missense 3:129495515-129495515 + D3 COSM1418827 c.2269T>C p.F757L Substitution - Missense 3:129495515-129495515 + TCGA-AX-A06H-01 COSM1038100 c.2931C>G p.L977L Substitution - coding silent 3:129506536-129506536 + 3206A7_009_T COSM5043021 c.2701-1G>T p.? Unknown 3:129504318-129504318 + Gp5D COSM3060138 c.1090C>T p.R364W Substitution - Missense 3:129476435-129476435 + TCGA-EE-A29E-06 COSM3587209 c.1804C>T p.Q602* Substitution - Nonsense 3:129481692-129481692 + HCT15 COSM3060206 c.3386G>A p.R1129H Substitution - Missense 3:129515567-129515567 + SNU-C4 COSM4653612 c.3618C>T p.S1206S Substitution - coding silent 3:129519180-129519180 + TCGA-D1-A17B-01 COSM203931 c.3851G>A p.R1284H Substitution - Missense 3:129520237-129520237 + U2940 COSM5621031 c.1891G>A p.A631T Substitution - Missense 3:129483569-129483569 + EGC20 COSM1163325 c.2280C>T p.A760A Substitution - coding silent 3:129495526-129495526 + TCGA-AP-A059-01 COSM1038102 c.3420C>T p.D1140D Substitution - coding silent 3:129517470-129517470 + 587342 COSM1210299 c.2102C>T p.A701V Substitution - Missense 3:129488354-129488354 + SNU-C4 COSM4653611 c.1641G>A p.Q547Q Substitution - coding silent 3:129479922-129479922 + TCGA-RP-A695-06 COSM4490943 c.3719C>T p.P1240L Substitution - Missense 3:129519662-129519662 + PD11386a COSM5796275 c.272+1G>A p.? Unknown 3:129458678-129458678 + OSCC-GB_00490111 COSM581428 c.3850C>T p.R1284C Substitution - Missense 3:129520236-129520236 + TCGA-A8-A07E-01 COSM445547 c.472C>T p.Q158* Substitution - Nonsense 3:129461274-129461274 + PCSI_0083_Pa_P COSM3380382 c.1083T>C p.D361D Substitution - coding silent 3:129476428-129476428 + PCSI_0083_Pa_P_526 COSM3380382 c.1083T>C p.D361D Substitution - coding silent 3:129476428-129476428 + CN-AML-NR-31-Dx COSM1163325 c.2280C>T p.A760A Substitution - coding silent 3:129495526-129495526 + pfg001T COSM1642087 c.3396C>A p.F1132L Substitution - Missense 3:129515577-129515577 + T3454 COSM4691845 c.2496C>T p.I832I Substitution - coding silent 3:129500036-129500036 + TCGA-D7-A4YV-01 COSM4113333 c.1923G>A p.L641L Substitution - coding silent 3:129483601-129483601 + TCGA-EE-A29S-06 COSM3587215 c.2655C>T p.L885L Substitution - coding silent 3:129502837-129502837 + TCGA-CD-A4MG-01 COSM4113335 c.2336A>G p.D779G Substitution - Missense 3:129495582-129495582 + TCGA-CD-8531-01 COSM4113340 c.3122C>T p.P1041L Substitution - Missense 3:129512394-129512394 + TCGA-DK-A1AE-01 COSM1308545 c.1240T>A p.Y414N Substitution - Missense 3:129476741-129476741 + TCGA-06-5858-01 COSM3408216 c.1168G>A p.G390S Substitution - Missense 3:129476669-129476669 + PTC_187 COSM1163325 c.2280C>T p.A760A Substitution - coding silent 3:129495526-129495526 + TCGA-EJ-A46G-01 COSM3783653 c.67G>T p.D23Y Substitution - Missense 3:129449896-129449896 + ACA15 COSM5961521 c.1484A>G p.N495S Substitution - Missense 3:129478199-129478199 + TCGA-B5-A11E-01 COSM1038095 c.2062G>A p.A688T Substitution - Missense 3:129488314-129488314 + C086 COSM4113340 c.3122C>T p.P1041L Substitution - Missense 3:129512394-129512394 + TCGA-DI-A0WH-01 COSM1038087 c.434A>G p.D145G Substitution - Missense 3:129461236-129461236 + TCGA-FW-A3R5-06 COSM3914872 c.795C>T p.I265I Substitution - coding silent 3:129466968-129466968 + TCGA-B6-A0RE-01 COSM445551 c.2873C>G p.A958G Substitution - Missense 3:129506478-129506478 + TCGA-AP-A059-01 COSM1038101 c.2994delT p.L999fs*49 Deletion - Frameshift 3:129507717-129507717 + TCGA-E2-A14P-01 COSM445548 c.1680C>G p.V560V Substitution - coding silent 3:129481568-129481568 + TCGA-CD-5801-01 COSM4113326 c.531C>G p.V177V Substitution - coding silent 3:129463588-129463588 + TCGA-AP-A056-01 COSM1038092 c.1677C>T p.I559I Substitution - coding silent 3:129481565-129481565 + TCGA-D8-A1JN-01 COSM1484586 c.621C>A p.I207I Substitution - coding silent 3:129464686-129464686 + TCGA-HF-7132-01 COSM4113344 c.3793T>G p.F1265V Substitution - Missense 3:129520179-129520179 + 8044460 COSM3784309 c.2200-9T>C p.? Unknown 3:129495437-129495437 + TCGA-EE-A2MR-06 COSM3587220 c.3687C>T p.R1229R Substitution - coding silent 3:129519630-129519630 + T13 COSM5618812 c.1686G>A p.L562L Substitution - coding silent 3:129481574-129481574 + PTC-77C COSM1163325 c.2280C>T p.A760A Substitution - coding silent 3:129495526-129495526 + 2492729 COSM5729985 c.1848G>A p.E616E Substitution - coding silent 3:129483526-129483526 + BD72T COSM203923 c.200G>A p.R67H Substitution - Missense 3:129458605-129458605 + ccRCC-90 COSM1662237 c.190G>T p.D64Y Substitution - Missense 3:129451995-129451995 + T2991 COSM4691843 c.1547G>A p.R516Q Substitution - Missense 3:129479828-129479828 + 2492703 COSM109680 c.660C>T p.I220I Substitution - coding silent 3:129464725-129464725 + YUFARCI COSM1693444 c.3191G>A p.R1064K Substitution - Missense 3:129514439-129514439 + CLN2 COSM5024769 c.2690G>A p.R897H Substitution - Missense 3:129502872-129502872 + TCGA-AM-5820-01 COSM3759725 c.2213G>A p.R738Q Substitution - Missense 3:129495459-129495459 + CN-AML-23-T COSM1163325 c.2280C>T p.A760A Substitution - coding silent 3:129495526-129495526 + TCGA-ER-A19W-06 COSM4398903 c.3480C>T p.S1160S Substitution - coding silent 3:129517530-129517530 + BK0024 COSM4186422 c.2346G>A p.M782I Substitution - Missense 3:129495592-129495592 + TCGA-EE-A3JB-06 COSM728555 c.2006C>T p.S669F Substitution - Missense 3:129488258-129488258 + H1155 COSM1195165 c.3535G>A p.A1179T Substitution - Missense 3:129517585-129517585 + TCGA-A2-A0SU-01 COSM445549 c.2046delG p.E683fs*23 Deletion - Frameshift 3:129488298-129488298 + LUAD-S01356 COSM398214 c.871G>T p.D291Y Substitution - Missense 3:129467044-129467044 + S00827 COSM5659644 c.3418+1G>T p.? Unknown 3:129515600-129515600 + YUAKER COSM1693442 c.1069C>T p.L357F Substitution - Missense 3:129476414-129476414 + PGBM11PT COSM1579667 c.675_678delCTCC p.L227fs*19 Deletion - Frameshift 3:129464740-129464743 + TCGA-BR-8360-01 COSM4113332 c.1533C>T p.S511S Substitution - coding silent 3:129479814-129479814 + TCGA-ER-A19O-06 COSM3587210 c.1811C>T p.P604L Substitution - Missense 3:129483489-129483489 + TCGA-AZ-6598-01 COSM1038096 c.2092C>T p.R698C Substitution - Missense 3:129488344-129488344 + LIM1215 COSM4639513 c.910A>G p.I304V Substitution - Missense 3:129469358-129469358 + LIM2551 COSM4644490 c.228C>T p.S76S Substitution - coding silent 3:129458633-129458633 + CSCC-44-T COSM4565769 c.2515_2516GG>AA p.G839N Substitution - Missense 3:129500055-129500056 + TCGA-29-2431-01 COSM1327890 c.3757G>A p.A1253T Substitution - Missense 3:129519700-129519700 + pfg043T COSM4761256 c.524A>C p.K175T Substitution - Missense 3:129463581-129463581 + Au9 COSM5607440 c.3033C>T p.R1011R Substitution - coding silent 3:129507756-129507756 + ESO-137 COSM1254628 c.3739C>T p.R1247C Substitution - Missense 3:129519682-129519682 + LUAD-CHTN-MAD06-00668 COSM359843 c.1691A>T p.Q564L Substitution - Missense 3:129481579-129481579 + 587238 COSM1210298 c.2542G>A p.A848T Substitution - Missense 3:129502724-129502724 + LUAD-D01278 COSM362955 c.1140G>A p.A380A Substitution - coding silent 3:129476485-129476485 + TCGA-BS-A0UV-01 COSM1038097 c.2142G>T p.K714N Substitution - Missense 3:129488394-129488394 + TCGA-D1-A16D-01 COSM1038098 c.2171G>T p.R724L Substitution - Missense 3:129492166-129492166 + TCGA-JX-A3Q0-01 COSM4824222 c.1734G>C p.K578N Substitution - Missense 3:129481622-129481622 + DN110E9 COSM5772414 c.3417C>T p.Y1139Y Substitution - coding silent 3:129515598-129515598 + CN-AML-37-T COSM1418827 c.2269T>C p.F757L Substitution - Missense 3:129495515-129495515 + SA227 COSM212641 c.2179G>C p.E727Q Substitution - Missense 3:129492174-129492174 + SNUH_G26_S1 COSM4002448 c.3686G>A p.R1229H Substitution - Missense 3:129519629-129519629 + ESCC_BICR_036T COSM1418827 c.2269T>C p.F757L Substitution - Missense 3:129495515-129495515 + TCGA-C4-A0F6-01 COSM419840 c.1069C>G p.L357V Substitution - Missense 3:129476414-129476414 + TCGA-66-2787-01 COSM728553 c.2580G>T p.L860L Substitution - coding silent 3:129502762-129502762 + ACINAR01 COSM1733126 c.3511C>T p.R1171W Substitution - Missense 3:129517561-129517561 + T2269 COSM4691847 c.2993G>A p.R998H Substitution - Missense 3:129507716-129507716 + 8016470 COSM3392027 c.92C>T p.A31V Substitution - Missense 3:129449921-129449921 + ESCC-210T COSM3940272 c.2058G>T p.Q686H Substitution - Missense 3:129488310-129488310 + NOKSI COSM4596228 c.2728G>A p.E910K Substitution - Missense 3:129504346-129504346 + YURAY COSM5398120 c.3768C>T p.T1256T Substitution - coding silent 3:129519711-129519711 + 631052 COSM320926 c.2323G>C p.E775Q Substitution - Missense 3:129495569-129495569 + CHC1040T COSM4799591 c.3827A>T p.Q1276L Substitution - Missense 3:129520213-129520213 + TCGA-D8-A1XL-01 COSM1484587 c.1262C>G p.T421S Substitution - Missense 3:129476763-129476763 + TCGA-EE-A3AB-06 COSM3587214 c.2636A>G p.Y879C Substitution - Missense 3:129502818-129502818 + TCGA-33-4582-01 COSM728555 c.2006C>T p.S669F Substitution - Missense 3:129488258-129488258 + S02322 COSM5691441 c.853G>A p.E285K Substitution - Missense 3:129467026-129467026 + TCGA-CG-5721-01 COSM3060160 c.1912C>T p.R638W Substitution - Missense 3:129483590-129483590 + 2_RESISTANT COSM1723110 c.3826C>T p.Q1276* Substitution - Nonsense 3:129520212-129520212 + HCC103 COSM3660179 c.185C>T p.A62V Substitution - Missense 3:129451990-129451990 + BRC7 COSM5026035 c.3240C>G p.A1080A Substitution - coding silent 3:129514488-129514488 + TCGA-EI-6882-01 COSM1294086 c.186G>A p.A62A Substitution - coding silent 3:129451991-129451991 + TCGA-B5-A11Y-01 COSM1038089 c.629G>A p.R210Q Substitution - Missense 3:129464694-129464694 + GB07 COSM1743545 c.3279C>T p.I1093I Substitution - coding silent 3:129514527-129514527 + 1_PRE-TREATMENT COSM1719120 c.3513G>A p.R1171R Substitution - coding silent 3:129517563-129517563 + TCGA-BR-8589-01 COSM4113341 c.3149T>A p.L1050H Substitution - Missense 3:129514397-129514397 + LUAD-QY22Z COSM394775 c.2621A>T p.Y874F Substitution - Missense 3:129502803-129502803 + TCGA-CG-4305-01 COSM4113334 c.2170C>T p.R724* Substitution - Nonsense 3:129492165-129492165 + TCGA-AZ-6599-01 COSM1418826 c.1266C>T p.D422D Substitution - coding silent 3:129476767-129476767 + SNUH_G10_S1 COSM3759725 c.2213G>A p.R738Q Substitution - Missense 3:129495459-129495459 + TCGA-AA-3715-01 COSM269349 c.3744A>G p.S1248S Substitution - coding silent 3:129519687-129519687 + CN-AML-37-T COSM1163325 c.2280C>T p.A760A Substitution - coding silent 3:129495526-129495526 + CSCC-31-T COSM4509087 c.796C>T p.P266S Substitution - Missense 3:129466969-129466969 + TCGA-D3-A3ML-06 COSM3587218 c.2725C>T p.P909S Substitution - Missense 3:129504343-129504343 + 587342 COSM1210300 c.2695G>T p.D899Y Substitution - Missense 3:129502877-129502877 + TCGA-CM-4752-01 COSM1418827 c.2269T>C p.F757L Substitution - Missense 3:129495515-129495515 + 10-P083 COSM4583916 c.2544C>A p.A848A Substitution - coding silent 3:129502726-129502726 + D3 COSM1163325 c.2280C>T p.A760A Substitution - coding silent 3:129495526-129495526 + TCGA-CM-4752-01 COSM1163325 c.2280C>T p.A760A Substitution - coding silent 3:129495526-129495526 + TCGA-BF-A3DL-01 COSM4904684 c.3043G>A p.D1015N Substitution - Missense 3:129512315-129512315 + STC252 COSM1418827 c.2269T>C p.F757L Substitution - Missense 3:129495515-129495515 + BD124T COSM5491712 c.2566C>T p.R856C Substitution - Missense 3:129502748-129502748 + BD175T COSM5507752 c.285G>C p.V95V Substitution - coding silent 3:129460866-129460866 + ESO-H01 COSM1254629 c.586C>T p.Q196* Substitution - Nonsense 3:129464651-129464651 + TCGA-DS-A0VK-01 COSM460917 c.3441C>T p.F1147F Substitution - coding silent 3:129517491-129517491 + 2492700 COSM109680 c.660C>T p.I220I Substitution - coding silent 3:129464725-129464725 + 8016470 COSM1038096 c.2092C>T p.R698C Substitution - Missense 3:129488344-129488344 + PT52 COSM5939113 c.3141G>A p.V1047V Substitution - coding silent 3:129514389-129514389 + MDA-MB-435 COSM1670552 c.1190C>T p.S397F Substitution - Missense 3:129476691-129476691 + PD4076a COSM161671 c.2716G>A p.E906K Substitution - Missense 3:129504334-129504334 + TCGA-FS-A1Z3-06 COSM3587217 c.2675A>T p.H892L Substitution - Missense 3:129502857-129502857 + LUAD-D02085 COSM363366 c.782A>G p.Y261C Substitution - Missense 3:129466955-129466955 + OSCC-GB_01280111 COSM1163325 c.2280C>T p.A760A Substitution - coding silent 3:129495526-129495526 + CH-60-T2 COSM5651234 c.3559C>T p.R1187W Substitution - Missense 3:129519121-129519121 + SNUH_G15_S1 COSM4002447 c.474A>G p.Q158Q Substitution - coding silent 3:129461276-129461276 + 389 COSM4427691 c.2362-2A>T p.? Unknown 3:129499900-129499900 + TCGA-BR-6452-01 COSM4113328 c.1033T>C p.Y345H Substitution - Missense 3:129476378-129476378 + HN_00378 COSM128220 c.2934T>C p.D978D Substitution - coding silent 3:129506539-129506539 + TCGA-B5-A11E-01 COSM1038091 c.1346G>T p.R449I Substitution - Missense 3:129478061-129478061 + TCGA-DM-A285-01 COSM1418830 c.2455G>C p.V819L Substitution - Missense 3:129499995-129499995 + TCGA-D8-A1JA-01 COSM3846167 c.719G>A p.R240Q Substitution - Missense 3:129466892-129466892 + TCGA-BR-6452-01 COSM4113327 c.759C>T p.A253A Substitution - coding silent 3:129466932-129466932 + PTC_448 COSM3759725 c.2213G>A p.R738Q Substitution - Missense 3:129495459-129495459 + 707T COSM1254628 c.3739C>T p.R1247C Substitution - Missense 3:129519682-129519682 + MDA-N COSM1670552 c.1190C>T p.S397F Substitution - Missense 3:129476691-129476691 + TCGA-BR-4362-01 COSM1418833 c.3062G>A p.R1021H Substitution - Missense 3:129512334-129512334 + CN-AML-NR-37-Dx COSM1418827 c.2269T>C p.F757L Substitution - Missense 3:129495515-129495515 + TCGA-FI-A2F8-01 COSM581428 c.3850C>T p.R1284C Substitution - Missense 3:129520236-129520236 + TCGA-G9-6496-01 COSM1130347 c.927C>G p.D309E Substitution - Missense 3:129469375-129469375 + UACC-62 COSM1670553 c.3236C>T p.P1079L Substitution - Missense 3:129514484-129514484 + TCGA-24-1422-01 COSM71133 c.2455G>T p.V819L Substitution - Missense 3:129499995-129499995 + TCGA-ER-A19K-01 COSM1418829 c.2455G>A p.V819M Substitution - Missense 3:129499995-129499995 + 60T COSM109680 c.660C>T p.I220I Substitution - coding silent 3:129464725-129464725 + TCGA-BR-6452-01 COSM4113329 c.1183A>G p.T395A Substitution - Missense 3:129476684-129476684 + Pat_41_B COSM5863463 c.2491G>A p.A831T Substitution - Missense 3:129500031-129500031 + TCGA-G2-A2EO-01 COSM1308546 c.2340C>A p.L780L Substitution - coding silent 3:129495586-129495586 + 2492701 COSM109680 c.660C>T p.I220I Substitution - coding silent 3:129464725-129464725 + PD4076a COSM161671 c.2716G>A p.E906K Substitution - Missense 3:129504334-129504334 + PT09_2 COSM3587207 c.1118C>T p.S373F Substitution - Missense 3:129476463-129476463 + TCGA-A6-6140-01 COSM3759725 c.2213G>A p.R738Q Substitution - Missense 3:129495459-129495459 + S02285 COSM5684828 c.3228G>C p.L1076L Substitution - coding silent 3:129514476-129514476 + TCGA-EP-A2KA-01 COSM581429 c.3599C>A p.P1200Q Substitution - Missense 3:129519161-129519161 + TCGA-CG-4440-01 COSM4113338 c.2978T>G p.F993C Substitution - Missense 3:129507701-129507701 + TCGA-ER-A19F-06 COSM3587211 c.1938C>T p.V646V Substitution - coding silent 3:129483616-129483616 + TCGA-BS-A0UM-01 COSM1038090 c.902G>A p.R301H Substitution - Missense 3:129469350-129469350 + TCGA-E9-A5FK-01 COSM5834543 c.2825_2826delAG p.E944fs*19 Deletion - Frameshift 3:129506430-129506431 + HN_62532 COSM123699 c.2946T>A p.D982E Substitution - Missense 3:129507669-129507669 + TCGA-A6-5661-01 COSM1418832 c.2958G>T p.K986N Substitution - Missense 3:129507681-129507681 + SW1116 COSM3060139 c.1091G>A p.R364Q Substitution - Missense 3:129476436-129476436 + PCSI_0090_Pa_X COSM3380383 c.3538A>G p.N1180D Substitution - Missense 3:129517588-129517588 + UM-SCC-17B COSM4598993 c.2563G>A p.E855K Substitution - Missense 3:129502745-129502745 + ATL065 COSM5708462 c.1115A>C p.N372T Substitution - Missense 3:129476460-129476460 + HCC92T COSM1616868 c.1637G>T p.G546V Substitution - Missense 3:129479918-129479918 + C089 COSM5543015 c.2867C>T p.A956V Substitution - Missense 3:129506472-129506472 + TCGA-EE-A2M8-06 COSM3587219 c.3553A>G p.I1185V Substitution - Missense 3:129519115-129519115 + TCGA-B7-5816-01 COSM1418825 c.885C>T p.D295D Substitution - coding silent 3:129467058-129467058 + TCGA-AN-A046-01 COSM3846168 c.3556C>A p.L1186M Substitution - Missense 3:129519118-129519118 + TCGA-FW-A3R5-06 COSM3587212 c.2131G>A p.E711K Substitution - Missense 3:129488383-129488383 + Gp5D COSM3060148 c.1393T>C p.L465L Substitution - coding silent 3:129478108-129478108 + CN-AML-31-T COSM1163325 c.2280C>T p.A760A Substitution - coding silent 3:129495526-129495526 + TCGA-D3-A2J8-06 COSM3587212 c.2131G>A p.E711K Substitution - Missense 3:129488383-129488383 + Au2 COSM109680 c.660C>T p.I220I Substitution - coding silent 3:129464725-129464725 + S00945 COSM311923 c.2199G>T p.E733D Substitution - Missense 3:129492194-129492194 + 49T COSM581428 c.3850C>T p.R1284C Substitution - Missense 3:129520236-129520236 + 66 COSM5742994 c.1990G>A p.V664M Substitution - Missense 3:129483668-129483668 + Pat_27_B COSM5863466 c.3254C>T p.S1085F Substitution - Missense 3:129514502-129514502 + LUAD-RT-S01702 COSM379319 c.2821C>T p.R941* Substitution - Nonsense 3:129506426-129506426 + C008 COSM5522880 c.3795C>T p.F1265F Substitution - coding silent 3:129520181-129520181 + D6 COSM1418827 c.2269T>C p.F757L Substitution - Missense 3:129495515-129495515 + SNU-C4 COSM4653613 c.3711G>A p.W1237* Substitution - Nonsense 3:129519654-129519654 + SC_9019 COSM3060129 c.502+4C>T p.? Unknown 3:129461308-129461308 + C086 COSM5532559 c.2541C>T p.I847I Substitution - coding silent 3:129502723-129502723 + S01516 COSM5669141 c.1180delG p.G394fs*27 Deletion - Frameshift 3:129476681-129476681 + TCGA-EE-A20F-06 COSM3587205 c.805C>T p.L269L Substitution - coding silent 3:129466978-129466978 + OSCC-GB_01240111 COSM1163325 c.2280C>T p.A760A Substitution - coding silent 3:129495526-129495526 + HCC98T COSM1616869 c.2935A>G p.I979V Substitution - Missense 3:129506540-129506540 + PTC_194 COSM1163325 c.2280C>T p.A760A Substitution - coding silent 3:129495526-129495526 + TCGA-DY-A1DF-01 COSM1566283 c.846G>T p.E282D Substitution - Missense 3:129467019-129467019 + HCC92 COSM1616868 c.1637G>T p.G546V Substitution - Missense 3:129479918-129479918 + HDC54 COSM4636444 c.220G>A p.D74N Substitution - Missense 3:129458625-129458625 + TCGA-37-4133-01 COSM728556 c.597G>A p.A199A Substitution - coding silent 3:129464662-129464662 + CSCC-31-T COSM3914873 c.1573C>T p.R525C Substitution - Missense 3:129479854-129479854 + TCGA-24-2288-01 COSM118974 c.1300+1G>T p.? Unknown 3:129476802-129476802 + SC_9008 COSM5555346 c.1045G>A p.G349R Substitution - Missense 3:129476390-129476390 + TCGA-BH-A0AU-01 COSM445550 c.2112G>A p.A704A Substitution - coding silent 3:129488364-129488364 + TCGA-FW-A3R5-06 COSM3914874 c.1615C>T p.L539F Substitution - Missense 3:129479896-129479896 + TCGA-AA-3510-01 COSM1418833 c.3062G>A p.R1021H Substitution - Missense 3:129512334-129512334 + TCGA-EE-A2MJ-06 COSM3587204 c.683C>T p.S228L Substitution - Missense 3:129464748-129464748 + CSCC-55-T COSM4487824 c.3235C>T p.P1079S Substitution - Missense 3:129514483-129514483 + S02354 COSM5695616 c.1252G>T p.D418Y Substitution - Missense 3:129476753-129476753 + TCGA-AP-A0LG-01 COSM1038093 c.1906G>A p.V636M Substitution - Missense 3:129483584-129483584 + CSCC-41-T COSM4487915 c.3246C>G p.F1082L Substitution - Missense 3:129514494-129514494 + ATL074 COSM5708463 c.3406G>A p.A1136T Substitution - Missense 3:129515587-129515587 + TCGA-BR-4257-01 COSM4113342 c.3183T>C p.G1061G Substitution - coding silent 3:129514431-129514431 + TCGA-EE-A3AA-06 COSM3587216 c.2661C>T p.S887S Substitution - coding silent 3:129502843-129502843 + STC252 COSM1163325 c.2280C>T p.A760A Substitution - coding silent 3:129495526-129495526 + SNU-C2B COSM3060153 c.1545G>A p.E515E Substitution - coding silent 3:129479826-129479826 + HCC98 COSM1616869 c.2935A>G p.I979V Substitution - Missense 3:129506540-129506540 + ESCC_BICR_036T COSM1163325 c.2280C>T p.A760A Substitution - coding silent 3:129495526-129495526 + pfg181T COSM4761262 c.3643G>A p.V1215M Substitution - Missense 3:129519586-129519586 + HN_62921 COSM128219 c.2673G>T p.L891L Substitution - coding silent 3:129502855-129502855 + BHY COSM3060131 c.610A>C p.N204H Substitution - Missense 3:129464675-129464675 + HCC012T COSM5814270 c.3017A>C p.Y1006S Substitution - Missense 3:129507740-129507740 + PD7205a COSM5772414 c.3417C>T p.Y1139Y Substitution - coding silent 3:129515598-129515598 + CN-AML-NR-37-Dx COSM1163325 c.2280C>T p.A760A Substitution - coding silent 3:129495526-129495526 + CSCC-11-T COSM4479857 c.2367C>T p.F789F Substitution - coding silent 3:129499907-129499907 + QC2-40-T2 COSM5655975 c.1428G>A p.R476R Substitution - coding silent 3:129478143-129478143 + sysucc-1397T COSM5474546 c.983G>A p.R328Q Substitution - Missense 3:129476328-129476328 + TCGA-32-2638-01 COSM3408217 c.2281G>A p.A761T Substitution - Missense 3:129495527-129495527 + TCGA-G2-A2EO-01 COSM1308547 c.3078C>G p.F1026L Substitution - Missense 3:129512350-129512350 + C135 COSM4611117 c.669delG p.G225fs*22 Deletion - Frameshift 3:129464734-129464734 + TCGA-EI-6917-01 COSM3427031 c.1238G>A p.R413H Substitution - Missense 3:129476739-129476739 + TCGA-FU-A3HZ-01 COSM4840054 c.3369C>T p.N1123N Substitution - coding silent 3:129515550-129515550 + PTC-77C COSM1418827 c.2269T>C p.F757L Substitution - Missense 3:129495515-129495515 + LUAD-S01302 COSM396015 c.3710G>T p.W1237L Substitution - Missense 3:129519653-129519653 + T12 COSM5617796 c.2933A>G p.D978G Substitution - Missense 3:129506538-129506538 + 134398 COSM325529 c.431A>G p.N144S Substitution - Missense 3:129461233-129461233 + TCGA-AA-A00R-01 COSM298975 c.3596A>G p.D1199G Substitution - Missense 3:129519158-129519158 + TCGA-37-4135-01 COSM728552 c.2873C>T p.A958V Substitution - Missense 3:129506478-129506478 + ESCC_61 COSM5632922 c.2177T>A p.L726* Substitution - Nonsense 3:129492172-129492172 + T3094 COSM4691846 c.2500A>G p.I834V Substitution - Missense 3:129500040-129500040 + TCGA-F5-6814-01 COSM3427030 c.1034A>T p.Y345F Substitution - Missense 3:129476379-129476379 + TCGA-BR-6852-01 COSM4113336 c.2587G>A p.A863T Substitution - Missense 3:129502769-129502769 + PD6041a COSM5768771 c.32C>G p.A11G Substitution - Missense 3:129440362-129440362 + TCGA-FD-A3SM-01 COSM3774507 c.805C>G p.L269V Substitution - Missense 3:129466978-129466978 + STC252 COSM5059281 c.3770T>C p.M1257T Substitution - Missense 3:129519713-129519713 + TCGA-EE-A29G-06 COSM3587206 c.1096G>A p.G366R Substitution - Missense 3:129476441-129476441 + PD6746a COSM1637509 c.1480G>A p.A494T Substitution - Missense 3:129478195-129478195 + YURUS COSM1693443 c.2365T>C p.F789L Substitution - Missense 3:129499905-129499905 + TCGA-BR-4184-01 COSM4113343 c.3775C>A p.P1259T Substitution - Missense 3:129519718-129519718 + 4472_T COSM3944815 c.2112G>T p.A704A Substitution - coding silent 3:129488364-129488364 + RK119_C01 COSM3767238 c.28A>C p.K10Q Substitution - Missense 3:129440358-129440358 + TCGA-FW-A3R5-06 COSM3914875 c.3562C>T p.L1188L Substitution - coding silent 3:129519124-129519124 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.655282;Hs.655284 3q21 606045

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.D1199G c.3596A>G 3 129238001 COREAD A G Missense p.I1185V c.3553A>G 3 129237958 CM A G Missense p.N144S c.431A>G 3 129180076 SCLC A G Missense p.Q263R c.788A>G 3 129185804 CM A G Missense p.Y879C c.2636A>G 3 129221661 CM A T Missense p.H892L c.2675A>T 3 129221700 CM C A Missense p.F1132L c.3396C>A 3 129234420 STAD C A Missense p.L772I c.2314C>A 3 129214403 UCEC C A Synonymous p.I207I c.621C>A 3 129183529 BRCA C A Synonymous p.L780L c.2340C>A 3 129214429 BLCA C A Synonymous p.P1041P c.3123C>A 3 129231238 PRAD CC TT Missense p.R1094C c.3279_3280delinsTT 3 129233370 CM CCTTTCTTT - IntronicDeletion . c.273-1082_273-1074delCCTTTCTTT 3 129178615 CLL C G Missense p.A958G c.2873C>G 3 129225321 BRCA C G Missense p.D309E c.927C>G 3 129188218 PRAD C G Missense p.F1026L c.3078C>G 3 129231193 BLCA C G Missense p.L357V c.1069C>G 3 129195257 BLCA C G Missense p.T421S c.1262C>G 3 129195606 BRCA C G Nonsense p.S182* c.545C>G 3 129182445 HNSC C G Synonymous p.A1080A c.3240C>G 3 129233331 BRCA C G Synonymous p.V560V c.1680C>G 3 129200411 BRCA C T IntronicSNV . c.3790-149C>T 3 129238870 NSCLC C T Missense p.A958V c.2873C>T 3 129225321 LUSC C T Missense p.P604L c.1811C>T 3 129202332 CM C T Missense p.P909S c.2725C>T 3 129223186 CM C T Missense p.R1247C c.3739C>T 3 129238525 ESCA C T Missense p.R1284C c.3850C>T 3 129239079 LUAD C T Missense p.R1284C c.3850C>T 3 129239079 UCEC C T Missense p.S228L c.683C>T 3 129183591 CM C T Missense p.S669F c.2006C>T 3 129207101 CM C T Missense p.S669F c.2006C>T 3 129207101 LUSC C T Nonsense p.Q158* c.472C>T 3 129180117 BRCA C T Nonsense p.Q158* c.472C>T 3 129180117 HNSC C T Nonsense p.Q196* c.586C>T 3 129183494 ESCA C T Nonsense p.Q997* c.2989C>T 3 129226555 LUSC C T Nonsense p.R724* c.2170C>T 3 129211008 STAD C T Synonymous p.A415A c.1245C>T 3 129195589 CM C T Synonymous p.D295D c.885C>T 3 129185901 STAD C T Synonymous p.L269L c.805C>T 3 129185821 CM C T Synonymous p.L772L c.2316C>T 3 129214405 CM C T Synonymous p.L866L c.2598C>T 3 129221623 CM C T Synonymous p.L885L c.2655C>T 3 129221680 CM C T Synonymous p.S887S c.2661C>T 3 129221686 CM C T Synonymous p.V646V c.1938C>T 3 129202459 CM G A IntronicSNV . c.194-645G>A 3 129176797 HC G A Missense p.A761T c.2281G>A 3 129214370 GBM G A Missense p.A761T c.2281G>A 3 129214370 LGG G A Missense p.A863T c.2587G>A 3 129221612 STAD G A Missense p.D1015N c.3043G>A 3 129231158 CM G A Missense p.E711K c.2131G>A 3 129207226 CM G A Missense p.E906K c.2716G>A 3 129223177 BRCA G A Missense p.G366R c.1096G>A 3 129195284 CM G A Missense p.G86S c.256G>A 3 129177504 CM G A Missense p.R1064K c.3191G>A 3 129233282 CM G A Missense p.R1284H c.3851G>A 3 129239080 COREAD G A Missense p.R210Q c.629G>A 3 129183537 UCEC G A Missense p.R301H c.902G>A 3 129188193 UCEC G A Missense p.R856H c.2567G>A 3 129221592 COREAD G A Missense p.V819M c.2455G>A 3 129218838 CM G A Synonymous p.A199A c.597G>A 3 129183505 LUSC G A Synonymous p.A704A c.2112G>A 3 129207207 BRCA G A Synonymous p.E515E c.1545G>A 3 129198669 STAD G A Synonymous p.P223P c.669G>A 3 129183577 COREAD G A Synonymous p.R1187R c.3561G>A 3 129237966 CM G C IntronicSNV . c.3140+190G>C 3 129231445 HC G C Missense p.D1231H c.3691G>C 3 129238477 LUSC G C Missense p.E727Q c.2179G>C 3 129211017 BRCA G C Missense p.E775Q c.2323G>C 3 129214412 SCLC - G Frameshift p.A1066Gfs*6 c.3196dupG 3 129233286 RCCC G - Frameshift p.E683Kfs*23 c.2047delG 3 129207141 BRCA G T IntronicSNV . c.3306+320G>T 3 129233717 HC G T IntronicSNV . c.3306+321G>T 3 129233718 HC G T IntronicSNV . c.3306+70G>T 3 129233467 CM G T Missense p.D194Y c.580G>T 3 129183488 LUAD G T Missense p.D23Y c.67G>T 3 129168739 PRAD G T Missense p.E733D c.2199G>T 3 129211037 SCLC G T Missense p.G1278V c.3833G>T 3 129239062 SCLC G T Missense p.G369V c.1106G>T 3 129195294 LUAD G T Missense p.R294S c.882G>T 3 129185898 LUAD G T Missense p.V819L c.2455G>T 3 129218838 OV G T SpliceDonorSNV . c.1300+1G>T 3 129195645 OV G T Synonymous p.L860L c.2580G>T 3 129221605 LUSC G T Synonymous p.L891L c.2673G>T 3 129221698 HNSC G T Synonymous p.R1171R c.3513G>T 3 129236406 SCLC T A IntronicSNV . c.503-157T>A 3 129182246 HC T A Missense p.D982E c.2946T>A 3 129226512 HNSC T A Missense p.Y414N c.1240T>A 3 129195584 BLCA T C IntronicSNV . c.2528+30T>C 3 129218941 STAD T C Synonymous p.D978D c.2934T>C 3 129225382 HNSC T C Synonymous p.G1061G c.3183T>C 3 129233274 STAD T G IntronicSNV . c.3306+61T>G 3 129233458 CM T G Missense p.F993C c.2978T>G 3 129226544 STAD