tcga2778 | BRCA2 | 675 | OT-TCGA | chr13 | 32913306 | 32913306 | g.chr13:32913306T>A | chr13:32913306-32913306 | c.4814T>A | c.(4813-4815)gTt>gAt | p.V1605D | Missense_Mutation | SNP | T | A | | TCGA-CQ-5325-01A-01D | ENST00000380152.3 | + | 11 | 5047 | TCGA |
tcga7681 | BRCA2 | 675 | OT-TCGA | chr13 | 32907432 | 32907432 | g.chr13:32907432C>T | chr13:32907432-32907432 | c.1817C>T | c.(1816-1818)cCg>cTg | p.P606L | Missense_Mutation | SNP | C | T | rs80358469|rs587779358 | TCGA-CV-6945-01A-11D | ENST00000380152.3 | + | 10 | 2050 | TCGA |
tcga25992 | BRCA2 | 675 | BM-TCGA | chr13 | 32906550 | 32906550 | g.chr13:32906550T>G | chr13:32906550-32906550 | c.935T>G | c.(934-936)tTt>tGt | p.F312C | Missense_Mutation | SNP | T | G | | TCGA-UF-A7JA-01A-12D | ENST00000380152.3 | + | 10 | 1168 | TCGA |
tcga28078 | BRCA2 | 675 | OC-TCGA | chr13 | 32915015 | 32915015 | g.chr13:32915015G>C | chr13:32915015-32915015 | c.6523G>C | c.(6523-6525)Gag>Cag | p.E2175Q | Missense_Mutation | SNP | G | C | | TCGA-CQ-7071-01A-12D | ENST00000380152.3 | + | 11 | 6756 | TCGA |
tcga541 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139412299 | 139412299 | g.chr9:139412299C>T | chr9:139412299-139412299 | c.1346G>A | c.(1345-1347)tGc>tAc | p.C449Y | Missense_Mutation | SNP | C | T | | TCGA-BA-4075-01A-01D | ENST00000277541.6 | - | 8 | 1421 | TCGA |
tcga689 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139412704 | 139412704 | g.chr9:139412704delG | chr9:139412704-139412704 | c.1140delC | c.(1138-1140)cccfs | p.P380fs | Frame_Shift_Del | DEL | G | - | | TCGA-BA-6873-01A-11D | ENST00000277541.6 | - | 7 | 1215 | TCGA |
tcga979 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139395110 | 139395114 | g.chr9:139395110_139395114delGCATC | chr9:139395110-139395114 | c.5824_5828delGATGC | c.(5824-5829)gatgccfs | p.DA1942fs | Frame_Shift_Del | DEL | GCATC | - | | TCGA-BA-A6DE-01A-22D | ENST00000277541.6 | - | 31 | 5899_5903 | TCGA |
tcga1688 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139412213 | 139412213 | g.chr9:139412213A>T | chr9:139412213-139412213 | c.1432T>A | c.(1432-1434)Tgc>Agc | p.C478S | Missense_Mutation | SNP | A | T | | TCGA-CN-4736-01A-01D | ENST00000277541.6 | - | 8 | 1507 | TCGA |
tcga1836 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139412381 | 139412381 | g.chr9:139412381G>A | chr9:139412381-139412381 | c.1264C>T | c.(1264-1266)Ccc>Tcc | p.P422S | Missense_Mutation | SNP | G | A | | TCGA-CN-4742-01A-02D | ENST00000277541.6 | - | 8 | 1339 | TCGA |
tcga3160 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139393579 | 139393579 | g.chr9:139393579C>T | chr9:139393579-139393579 | c.6067G>A | c.(6067-6069)Gcc>Acc | p.A2023T | Missense_Mutation | SNP | C | T | | TCGA-CQ-5329-01A-01D | ENST00000277541.6 | - | 32 | 6142 | TCGA |
tcga3490 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139412235 | 139412235 | g.chr9:139412235C>T | chr9:139412235-139412235 | c.1410G>A | c.(1408-1410)caG>caA | p.Q470Q | Silent | SNP | C | T | | TCGA-CQ-5333-01A-01D | ENST00000277541.6 | - | 8 | 1485 | TCGA |
tcga3491 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139412278 | 139412278 | g.chr9:139412278C>T | chr9:139412278-139412278 | c.1367G>A | c.(1366-1368)tGc>tAc | p.C456Y | Missense_Mutation | SNP | C | T | | TCGA-CQ-5333-01A-01D | ENST00000277541.6 | - | 8 | 1442 | TCGA |
tcga3589 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139413084 | 139413084 | g.chr9:139413084C>T | chr9:139413084-139413084 | c.1058G>A | c.(1057-1059)cGt>cAt | p.R353H | Missense_Mutation | SNP | C | T | | TCGA-CQ-6219-01A-11D | ENST00000277541.6 | - | 6 | 1133 | TCGA |
tcga4774 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139402771 | 139402771 | g.chr9:139402771G>A | chr9:139402771-139402771 | c.3238C>T | c.(3238-3240)Cag>Tag | p.Q1080* | Nonsense_Mutation | SNP | G | A | | TCGA-CR-7390-01A-11D | ENST00000277541.6 | - | 20 | 3313 | TCGA |
tcga5042 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139395018 | 139395018 | g.chr9:139395018G>A | chr9:139395018-139395018 | c.5920C>T | c.(5920-5922)Caa>Taa | p.Q1974* | Nonsense_Mutation | SNP | G | A | | TCGA-CR-7394-01A-11D | ENST00000277541.6 | - | 31 | 5995 | TCGA |
tcga5768 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139413085 | 139413085 | g.chr9:139413085G>A | chr9:139413085-139413085 | c.1057C>T | c.(1057-1059)Cgt>Tgt | p.R353C | Missense_Mutation | SNP | G | A | | TCGA-CV-5971-01A-11D | ENST00000277541.6 | - | 6 | 1132 | TCGA |
tcga5844 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139393696 | 139393696 | g.chr9:139393696G>A | chr9:139393696-139393696 | c.5950C>T | c.(5950-5952)Cga>Tga | p.R1984* | Nonsense_Mutation | SNP | G | A | | TCGA-CV-5973-01A-11D | ENST00000277541.6 | - | 32 | 6025 | TCGA |
tcga9553 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139405210 | 139405210 | g.chr9:139405210G>A | chr9:139405210-139405210 | c.2635C>T | c.(2635-2637)Cgg>Tgg | p.R879W | Missense_Mutation | SNP | G | A | rs587778563 | TCGA-CV-6959-01A-11D | ENST00000277541.6 | - | 17 | 2710 | TCGA |
tcga9629 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139405210 | 139405210 | g.chr9:139405210G>A | chr9:139405210-139405210 | c.2635C>T | c.(2635-2637)Cgg>Tgg | p.R879W | Missense_Mutation | SNP | G | A | rs587778563 | TCGA-CV-6959-01A-11D | ENST00000277541.6 | - | 17 | 2710 | TCGA |
tcga11618 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139412252 | 139412252 | g.chr9:139412252C>T | chr9:139412252-139412252 | c.1393G>A | c.(1393-1395)Gcc>Acc | p.A465T | Missense_Mutation | SNP | C | T | | TCGA-CV-7236-01A-11D | ENST00000277541.6 | - | 8 | 1468 | TCGA |
tcga11806 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139407533 | 139407533 | g.chr9:139407533G>A | chr9:139407533-139407533 | c.2407C>T | c.(2407-2409)Cag>Tag | p.Q803* | Nonsense_Mutation | SNP | G | A | | TCGA-CV-7238-01A-11D | ENST00000277541.6 | - | 15 | 2482 | TCGA |
tcga12001 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139407533 | 139407533 | g.chr9:139407533G>A | chr9:139407533-139407533 | c.2407C>T | c.(2407-2409)Cag>Tag | p.Q803* | Nonsense_Mutation | SNP | G | A | | TCGA-CV-7238-01A-11D | ENST00000277541.6 | - | 15 | 2482 | TCGA |
tcga13708 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139412282 | 139412282 | g.chr9:139412282C>T | chr9:139412282-139412282 | c.1363G>A | c.(1363-1365)Gag>Aag | p.E455K | Missense_Mutation | SNP | C | T | | TCGA-CX-7085-01A-21D | ENST00000277541.6 | - | 8 | 1438 | TCGA |
tcga15051 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139413087 | 139413087 | g.chr9:139413087T>A | chr9:139413087-139413087 | c.1055A>T | c.(1054-1056)gAc>gTc | p.D352V | Missense_Mutation | SNP | T | A | | TCGA-DQ-5625-01A-01D | ENST00000277541.6 | - | 6 | 1130 | TCGA |
tcga15268 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139412327 | 139412327 | g.chr9:139412327A>G | chr9:139412327-139412327 | c.1318T>C | c.(1318-1320)Tgt>Cgt | p.C440R | Missense_Mutation | SNP | A | G | | TCGA-DQ-5631-01A-01D | ENST00000277541.6 | - | 8 | 1393 | TCGA |
tcga16397 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139400146 | 139400146 | g.chr9:139400146C>T | chr9:139400146-139400146 | c.4202G>A | c.(4201-4203)gGg>gAg | p.G1401E | Missense_Mutation | SNP | C | T | | TCGA-HD-8635-01A-11D | ENST00000277541.6 | - | 25 | 4277 | TCGA |
tcga16667 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139400146 | 139400146 | g.chr9:139400146C>T | chr9:139400146-139400146 | c.4202G>A | c.(4201-4203)gGg>gAg | p.G1401E | Missense_Mutation | SNP | C | T | | TCGA-HD-8635-01A-11D | ENST00000277541.6 | - | 25 | 4277 | TCGA |
tcga17006 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139402529 | 139402546 | g.chr9:139402529_139402546delGGTGCGTGTTGCCCGCGT | chr9:139402529-139402546 | c.3371_3388delACGCGGGCAACACGCA | c.(3370-3390)gacgcgggcaacacgca | p.AGNTHH1125del | In_Frame_Del | DEL | GGTGCGTGTTGCCCGCGT | TGTG | rs200871631|rs530959956|rs200608278 | TCGA-IQ-A61E-01A-22D | ENST00000277541.6 | - | 21 | 3446_3463 | TCGA |
tcga17925 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139410452 | 139410452 | g.chr9:139410452G>T | chr9:139410452-139410452 | c.1650C>A | c.(1648-1650)taC>taA | p.Y550* | Nonsense_Mutation | SNP | G | T | rs371634784 | TCGA-MT-A67A-01A-11D | ENST00000277541.6 | - | 10 | 1725 | TCGA |
tcga18074 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139409770 | 139409770 | g.chr9:139409770G>C | chr9:139409770-139409770 | c.1986C>G | c.(1984-1986)taC>taG | p.Y662* | Nonsense_Mutation | SNP | G | C | | TCGA-QK-A652-01A-11D | ENST00000277541.6 | - | 12 | 2061 | TCGA |
tcga18199 | NOTCH1 | 4851 | OT-TCGA | chr9 | 139412252 | 139412252 | g.chr9:139412252C>T | chr9:139412252-139412252 | c.1393G>A | c.(1393-1395)Gcc>Acc | p.A465T | Missense_Mutation | SNP | C | T | | TCGA-QK-AA3K-01A-11D | ENST00000277541.6 | - | 8 | 1468 | TCGA |
tcga20133 | NOTCH1 | 4851 | BM-TCGA | chr9 | 139402562 | 139402562 | g.chr9:139402562C>A | chr9:139402562-139402562 | c.3355G>T | c.(3355-3357)Gga>Tga | p.G1119* | Nonsense_Mutation | SNP | C | A | | TCGA-CQ-5334-01A-01D | ENST00000277541.6 | - | 21 | 3430 | TCGA |
tcga20546 | NOTCH1 | 4851 | BM-TCGA | chr9 | 139412282 | 139412282 | g.chr9:139412282C>T | chr9:139412282-139412282 | c.1363G>A | c.(1363-1365)Gag>Aag | p.E455K | Missense_Mutation | SNP | C | T | | TCGA-CQ-A4C6-01A-11D | ENST00000277541.6 | - | 8 | 1438 | TCGA |
tcga20936 | NOTCH1 | 4851 | BM-TCGA | chr9 | 139397641 | 139397641 | g.chr9:139397641G>A | chr9:139397641-139397641 | c.5160C>T | c.(5158-5160)gcC>gcT | p.A1720A | Silent | SNP | G | A | | TCGA-CV-6940-01A-11D | ENST00000277541.6 | - | 27 | 5235 | TCGA |
tcga21096 | NOTCH1 | 4851 | BM-TCGA | chr9 | 139413161 | 139413161 | g.chr9:139413161C>G | chr9:139413161-139413161 | c.981G>C | c.(979-981)tgG>tgC | p.W327C | Missense_Mutation | SNP | C | G | | TCGA-D6-A6EN-01A-11D | ENST00000277541.6 | - | 6 | 1056 | TCGA |
tcga25052 | NOTCH1 | 4851 | BM-TCGA | chr9 | 139395187 | 139395187 | g.chr9:139395187G>A | chr9:139395187-139395187 | c.5751C>T | c.(5749-5751)ggC>ggT | p.G1917G | Silent | SNP | G | A | | TCGA-F7-A624-01A-22D | ENST00000277541.6 | - | 31 | 5826 | TCGA |
tcga27263 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139402755 | 139402755 | g.chr9:139402755C>T | chr9:139402755-139402755 | c.3254G>A | c.(3253-3255)tGc>tAc | p.C1085Y | Missense_Mutation | SNP | C | T | | TCGA-CN-4729-01A-01D | ENST00000277541.6 | - | 20 | 3329 | TCGA |
tcga27926 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139418373 | 139418373 | g.chr9:139418373G>T | chr9:139418373-139418373 | c.199C>A | c.(199-201)Ccc>Acc | p.P67T | Missense_Mutation | SNP | G | T | | TCGA-CN-6994-01A-11D | ENST00000277541.6 | - | 3 | 274 | TCGA |
tcga28503 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139412344 | 139412344 | g.chr9:139412344C>A | chr9:139412344-139412344 | c.1301G>T | c.(1300-1302)gGc>gTc | p.G434V | Missense_Mutation | SNP | C | A | | TCGA-CQ-7071-01A-12D | ENST00000277541.6 | - | 8 | 1376 | TCGA |
tcga28504 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139413130 | 139413130 | g.chr9:139413130C>T | chr9:139413130-139413130 | c.1012G>A | c.(1012-1014)Gac>Aac | p.D338N | Missense_Mutation | SNP | C | T | | TCGA-CQ-7071-01A-12D | ENST00000277541.6 | - | 6 | 1087 | TCGA |
tcga29452 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139400138 | 139400138 | g.chr9:139400138C>T | chr9:139400138-139400138 | c.4210G>A | c.(4210-4212)Gag>Aag | p.E1404K | Missense_Mutation | SNP | C | T | | TCGA-CR-7365-01A-11D | ENST00000277541.6 | - | 25 | 4285 | TCGA |
tcga29453 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139410477 | 139410477 | g.chr9:139410477delT | chr9:139410477-139410477 | c.1625delA | c.(1624-1626)aagfs | p.K542fs | Frame_Shift_Del | DEL | T | - | rs369635394 | TCGA-CR-7365-01A-11D | ENST00000277541.6 | - | 10 | 1700 | TCGA |
tcga30260 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139411828 | 139411828 | g.chr9:139411828C>A | chr9:139411828-139411828 | c.1451G>T | c.(1450-1452)gGt>gTt | p.G484V | Missense_Mutation | SNP | C | A | | TCGA-CR-7376-01A-11D | ENST00000277541.6 | - | 9 | 1526 | TCGA |
tcga30412 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139392011 | 139392011 | g.chr9:139392011C>T | chr9:139392011-139392011 | | - | | Splice_Site | SNP | C | T | | TCGA-CR-7377-01A-11D | ENST00000277541.6 | - | 34 | 6256 | TCGA |
tcga30413 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139400000 | 139400000 | g.chr9:139400000C>A | chr9:139400000-139400000 | c.4348G>T | c.(4348-4350)Gag>Tag | p.E1450* | Nonsense_Mutation | SNP | C | A | rs147841035 | TCGA-CR-7377-01A-11D | ENST00000277541.6 | - | 25 | 4423 | TCGA |
tcga30595 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139396213 | 139396213 | g.chr9:139396213A>T | chr9:139396213-139396213 | c.5625T>A | c.(5623-5625)aaT>aaA | p.N1875K | Missense_Mutation | SNP | A | T | | TCGA-CR-7379-01A-11D | ENST00000277541.6 | - | 30 | 5700 | TCGA |
tcga30731 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139405168 | 139405168 | g.chr9:139405168A>T | chr9:139405168-139405168 | c.2677T>A | c.(2677-2679)Tgc>Agc | p.C893S | Missense_Mutation | SNP | A | T | | TCGA-CR-7380-01A-11D | ENST00000277541.6 | - | 17 | 2752 | TCGA |
tcga31179 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139392000 | 139392000 | g.chr9:139392000G>A | chr9:139392000-139392000 | c.6191C>T | c.(6190-6192)cCc>cTc | p.P2064L | Missense_Mutation | SNP | G | A | | TCGA-CR-7395-01A-11D | ENST00000277541.6 | - | 34 | 6266 | TCGA |
tcga31327 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139409935 | 139409936 | g.chr9:139409935_139409936insTG | chr9:139409935-139409936 | c.1902_1903insCA | c.(1900-1905)acagga>acaCAgga | p.G635fs | Splice_Site | INS | - | TG | | TCGA-CV-5966-01A-11D | ENST00000277541.6 | - | 11 | 1977_1978 | TCGA |
tcga31471 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139409935 | 139409936 | g.chr9:139409935_139409936insTG | chr9:139409935-139409936 | c.1902_1903insCA | c.(1900-1905)acagga>acaCAgga | p.G635fs | Splice_Site | INS | - | TG | | TCGA-CV-5966-01A-11D | ENST00000277541.6 | - | 11 | 1977_1978 | TCGA |
tcga31852 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139402475 | 139402475 | g.chr9:139402475delC | chr9:139402475-139402475 | c.3442delG | c.(3442-3444)gagfs | p.E1148fs | Frame_Shift_Del | DEL | C | - | | TCGA-CV-6938-01A-11D | ENST00000277541.6 | - | 21 | 3517 | TCGA |
tcga32024 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139402475 | 139402475 | g.chr9:139402475delC | chr9:139402475-139402475 | c.3442delG | c.(3442-3444)gagfs | p.E1148fs | Frame_Shift_Del | DEL | C | - | | TCGA-CV-6938-01A-11D | ENST00000277541.6 | - | 21 | 3517 | TCGA |
tcga32298 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139409118 | 139409118 | g.chr9:139409118delC | chr9:139409118-139409118 | c.2051delG | c.(2050-2052)ggcfs | p.G684fs | Frame_Shift_Del | DEL | C | - | | TCGA-CV-6942-01A-21D | ENST00000277541.6 | - | 13 | 2126 | TCGA |
tcga32453 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139399790 | 139399790 | g.chr9:139399790C>G | chr9:139399790-139399790 | c.4558G>C | c.(4558-4560)Gac>Cac | p.D1520H | Missense_Mutation | SNP | C | G | | TCGA-CV-6955-01A-11D | ENST00000277541.6 | - | 25 | 4633 | TCGA |
tcga32454 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139412284 | 139412284 | g.chr9:139412284T>G | chr9:139412284-139412284 | c.1361A>C | c.(1360-1362)aAc>aCc | p.N454T | Missense_Mutation | SNP | T | G | | TCGA-CV-6955-01A-11D | ENST00000277541.6 | - | 8 | 1436 | TCGA |
tcga32455 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139418203 | 139418204 | g.chr9:139418203_139418204insT | chr9:139418203-139418204 | c.368_369insA | c.(367-369)acgfs | p.T123fs | Frame_Shift_Ins | INS | - | T | rs187473846 | TCGA-CV-6955-01A-11D | ENST00000277541.6 | - | 3 | 443_444 | TCGA |
tcga32551 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139399790 | 139399790 | g.chr9:139399790C>G | chr9:139399790-139399790 | c.4558G>C | c.(4558-4560)Gac>Cac | p.D1520H | Missense_Mutation | SNP | C | G | | TCGA-CV-6955-01A-11D | ENST00000277541.6 | - | 25 | 4633 | TCGA |
tcga32552 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139412284 | 139412284 | g.chr9:139412284T>G | chr9:139412284-139412284 | c.1361A>C | c.(1360-1362)aAc>aCc | p.N454T | Missense_Mutation | SNP | T | G | | TCGA-CV-6955-01A-11D | ENST00000277541.6 | - | 8 | 1436 | TCGA |
tcga32553 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139418203 | 139418204 | g.chr9:139418203_139418204insT | chr9:139418203-139418204 | c.368_369insA | c.(367-369)acgfs | p.T123fs | Frame_Shift_Ins | INS | - | T | rs187473846 | TCGA-CV-6955-01A-11D | ENST00000277541.6 | - | 3 | 443_444 | TCGA |
tcga34772 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139401042 | 139401042 | g.chr9:139401042C>G | chr9:139401042-139401042 | c.3951G>C | c.(3949-3951)aaG>aaC | p.K1317N | Missense_Mutation | SNP | C | G | | TCGA-CV-7099-01A-41D | ENST00000277541.6 | - | 24 | 4026 | TCGA |
tcga37063 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139401394 | 139401394 | g.chr9:139401394G>T | chr9:139401394-139401394 | c.3675C>A | c.(3673-3675)tgC>tgA | p.C1225* | Nonsense_Mutation | SNP | G | T | | TCGA-CV-7411-01A-11D | ENST00000277541.6 | - | 23 | 3750 | TCGA |
tcga38713 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139402742 | 139402742 | g.chr9:139402742C>T | chr9:139402742-139402742 | c.3267G>A | c.(3265-3267)tgG>tgA | p.W1089* | Nonsense_Mutation | SNP | C | T | | TCGA-CV-7427-01A-11D | ENST00000277541.6 | - | 20 | 3342 | TCGA |
tcga42548 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139411742 | 139411742 | g.chr9:139411742G>A | chr9:139411742-139411742 | c.1537C>T | c.(1537-1539)Cag>Tag | p.Q513* | Nonsense_Mutation | SNP | G | A | | TCGA-CV-7568-01A-11D | ENST00000277541.6 | - | 9 | 1612 | TCGA |
tcga43607 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139404216 | 139404216 | g.chr9:139404216A>C | chr9:139404216-139404216 | c.2938T>G | c.(2938-2940)Tgt>Ggt | p.C980G | Missense_Mutation | SNP | A | C | | TCGA-CV-A45V-01A-21D | ENST00000277541.6 | - | 18 | 3013 | TCGA |
tcga44004 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139413171 | 139413171 | g.chr9:139413171A>T | chr9:139413171-139413171 | c.971T>A | c.(970-972)gTc>gAc | p.V324D | Missense_Mutation | SNP | A | T | | TCGA-CV-A6JY-01A-11D | ENST00000277541.6 | - | 6 | 1046 | TCGA |
tcga45633 | NOTCH1 | 4851 | OC-TCGA | chr9 | 139412375 | 139412375 | g.chr9:139412375C>T | chr9:139412375-139412375 | c.1270G>A | c.(1270-1272)Gag>Aag | p.E424K | Missense_Mutation | SNP | C | T | | TCGA-HD-A6I0-01A-11D | ENST00000277541.6 | - | 8 | 1345 | TCGA |
tcga55 | TP53 | 7157 | OT-TCGA | chr17 | 7574000 | 7574000 | g.chr17:7574000C>A | chr17:7574000-7574000 | c.1027G>T | c.(1027-1029)Gag>Tag | p.E343* | Nonsense_Mutation | SNP | C | A | rs375573770 | TCGA-4P-AA8J-01A-11D | ENST00000269305.4 | - | 10 | 1216 | TCGA |
tcga56 | TP53 | 7157 | OT-TCGA | chr17 | 7576904 | 7576904 | g.chr17:7576904G>A | chr17:7576904-7576904 | c.942C>T | c.(940-942)tcC>tcT | p.S314S | Silent | SNP | G | A | | TCGA-4P-AA8J-01A-11D | ENST00000269305.4 | - | 9 | 1131 | TCGA |
tcga220 | TP53 | 7157 | OT-TCGA | chr17 | 7577507 | 7577507 | g.chr17:7577507T>A | chr17:7577507-7577507 | c.774A>T | c.(772-774)gaA>gaT | p.E258D | Missense_Mutation | SNP | T | A | | TCGA-BA-4074-01A-01D | ENST00000269305.4 | - | 7 | 963 | TCGA |
tcga405 | TP53 | 7157 | OT-TCGA | chr17 | 7577017 | 7577017 | g.chr17:7577017A>C | chr17:7577017-7577017 | | - | | Splice_Site | SNP | A | C | | TCGA-BA-4075-01A-01D | ENST00000269305.4 | - | 8 | 1109 | TCGA |
tcga569 | TP53 | 7157 | OT-TCGA | chr17 | 7578247 | 7578247 | g.chr17:7578247A>T | chr17:7578247-7578247 | c.602T>A | c.(601-603)tTg>tAg | p.L201* | Nonsense_Mutation | SNP | A | T | | TCGA-BA-5557-01A-01D | ENST00000269305.4 | - | 6 | 791 | TCGA |
tcga631 | TP53 | 7157 | OT-TCGA | chr17 | 7578271 | 7578271 | g.chr17:7578271T>A | chr17:7578271-7578271 | c.578A>T | c.(577-579)cAt>cTt | p.H193L | Missense_Mutation | SNP | T | A | | TCGA-BA-6873-01A-11D | ENST00000269305.4 | - | 6 | 767 | TCGA |
tcga632 | TP53 | 7157 | OT-TCGA | chr17 | 7578384 | 7578401 | g.chr17:7578384_7578401delGCAGCGCTCATGGTGGGG | chr17:7578384-7578401 | c.529_546delCCCCACCATGAGCGCTGC | c.(529-546)ccccaccatgagcgctgcd | p.PHHERC177del | In_Frame_Del | DEL | GCAGCGCTCATGGTGGGG | - | rs147002414|rs587782596|rs587780070|rs397514495 | TCGA-BA-6873-01A-11D | ENST00000269305.4 | - | 5 | 718_735 | TCGA |
tcga717 | TP53 | 7157 | OT-TCGA | chr17 | 7578180 | 7578181 | g.chr17:7578180_7578181insT | chr17:7578180-7578181 | c.668_669insA | c.(667-669)cctfs | p.P223fs | Frame_Shift_Ins | INS | - | T | rs138983188 | TCGA-BA-7269-01A-11D | ENST00000269305.4 | - | 6 | 857_858 | TCGA |
tcga813 | TP53 | 7157 | OT-TCGA | chr17 | 7577121 | 7577121 | g.chr17:7577121G>A | chr17:7577121-7577121 | c.817C>T | c.(817-819)Cgt>Tgt | p.R273C | Missense_Mutation | SNP | G | A | rs121913343 | TCGA-BA-A6DB-01A-11D | ENST00000269305.4 | - | 8 | 1006 | TCGA |
tcga881 | TP53 | 7157 | OT-TCGA | chr17 | 7578413 | 7578413 | g.chr17:7578413C>T | chr17:7578413-7578413 | c.517G>A | c.(517-519)Gtg>Atg | p.V173M | Missense_Mutation | SNP | C | T | | TCGA-BA-A6DE-01A-22D | ENST00000269305.4 | - | 5 | 706 | TCGA |
tcga995 | TP53 | 7157 | OT-TCGA | chr17 | 7577100 | 7577100 | g.chr17:7577100T>C | chr17:7577100-7577100 | c.838A>G | c.(838-840)Aga>Gga | p.R280G | Missense_Mutation | SNP | T | C | | TCGA-BA-A6DG-01A-21D | ENST00000269305.4 | - | 8 | 1027 | TCGA |
tcga996 | TP53 | 7157 | OT-TCGA | chr17 | 7578263 | 7578263 | g.chr17:7578263G>A | chr17:7578263-7578263 | c.586C>T | c.(586-588)Cga>Tga | p.R196* | Nonsense_Mutation | SNP | G | A | rs397516435 | TCGA-BA-A6DG-01A-21D | ENST00000269305.4 | - | 6 | 775 | TCGA |
tcga1063 | TP53 | 7157 | OT-TCGA | chr17 | 7578192 | 7578193 | g.chr17:7578192_7578193delGG | chr17:7578192-7578193 | c.656_657delCC | c.(655-657)cccfs | p.P219fs | Frame_Shift_Del | DEL | GG | - | | TCGA-BB-4224-01A-01D | ENST00000269305.4 | - | 6 | 845_846 | TCGA |
tcga1064 | TP53 | 7157 | OT-TCGA | chr17 | 7578500 | 7578500 | g.chr17:7578500G>A | chr17:7578500-7578500 | c.430C>T | c.(430-432)Cag>Tag | p.Q144* | Nonsense_Mutation | SNP | G | A | | TCGA-BB-4224-01A-01D | ENST00000269305.4 | - | 5 | 619 | TCGA |
tcga1176 | TP53 | 7157 | OT-TCGA | chr17 | 7577017 | 7577017 | g.chr17:7577017A>C | chr17:7577017-7577017 | | - | | Splice_Site | SNP | A | C | | TCGA-BB-A6UO-01A-12D | ENST00000269305.4 | - | 8 | 1109 | TCGA |
tcga1318 | TP53 | 7157 | OT-TCGA | chr17 | 7578265 | 7578265 | g.chr17:7578265A>G | chr17:7578265-7578265 | c.584T>C | c.(583-585)aTc>aCc | p.I195T | Missense_Mutation | SNP | A | G | | TCGA-C9-A47Z-01A-11D | ENST00000269305.4 | - | 6 | 773 | TCGA |
tcga1319 | TP53 | 7157 | OT-TCGA | chr17 | 7579379 | 7579380 | g.chr17:7579379_7579380insA | chr17:7579379-7579380 | c.307_308insT | c.(307-309)tacfs | p.Y103fs | Frame_Shift_Ins | INS | - | A | | TCGA-C9-A47Z-01A-11D | ENST00000269305.4 | - | 4 | 496_497 | TCGA |
tcga1432 | TP53 | 7157 | OT-TCGA | chr17 | 7577547 | 7577547 | g.chr17:7577547C>T | chr17:7577547-7577547 | c.734G>A | c.(733-735)gGc>gAc | p.G245D | Missense_Mutation | SNP | C | T | rs121912656|rs397516437 | TCGA-C9-A480-01A-12D | ENST00000269305.4 | - | 7 | 923 | TCGA |
tcga1506 | TP53 | 7157 | OT-TCGA | chr17 | 7574017 | 7574017 | g.chr17:7574017C>A | chr17:7574017-7574017 | c.1010G>T | c.(1009-1011)cGc>cTc | p.R337L | Missense_Mutation | SNP | C | A | rs121912664 | TCGA-CN-4725-01A-01D | ENST00000269305.4 | - | 10 | 1199 | TCGA |
tcga1507 | TP53 | 7157 | OT-TCGA | chr17 | 7577114 | 7577114 | g.chr17:7577114C>A | chr17:7577114-7577114 | c.824G>T | c.(823-825)tGt>tTt | p.C275F | Missense_Mutation | SNP | C | A | | TCGA-CN-4725-01A-01D | ENST00000269305.4 | - | 8 | 1013 | TCGA |
tcga1565 | TP53 | 7157 | OT-TCGA | chr17 | 7577120 | 7577120 | g.chr17:7577120C>T | chr17:7577120-7577120 | c.818G>A | c.(817-819)cGt>cAt | p.R273H | Missense_Mutation | SNP | C | T | rs28934576 | TCGA-CN-4733-01A-02D | ENST00000269305.4 | - | 8 | 1007 | TCGA |
tcga1622 | TP53 | 7157 | OT-TCGA | chr17 | 7578271 | 7578271 | g.chr17:7578271T>G | chr17:7578271-7578271 | c.578A>C | c.(577-579)cAt>cCt | p.H193P | Missense_Mutation | SNP | T | G | | TCGA-CN-4736-01A-01D | ENST00000269305.4 | - | 6 | 767 | TCGA |
tcga1623 | TP53 | 7157 | OT-TCGA | chr17 | 7578395 | 7578395 | g.chr17:7578395G>A | chr17:7578395-7578395 | c.535C>T | c.(535-537)Cat>Tat | p.H179Y | Missense_Mutation | SNP | G | A | rs587780070 | TCGA-CN-4736-01A-01D | ENST00000269305.4 | - | 5 | 724 | TCGA |
tcga1718 | TP53 | 7157 | OT-TCGA | chr17 | 7578427 | 7578427 | g.chr17:7578427T>A | chr17:7578427-7578427 | c.503A>T | c.(502-504)cAc>cTc | p.H168L | Missense_Mutation | SNP | T | A | | TCGA-CN-4737-01A-01D | ENST00000269305.4 | - | 5 | 692 | TCGA |
tcga1782 | TP53 | 7157 | OT-TCGA | chr17 | 7577058 | 7577058 | g.chr17:7577058C>A | chr17:7577058-7577058 | c.880G>T | c.(880-882)Gag>Tag | p.E294* | Nonsense_Mutation | SNP | C | A | | TCGA-CN-4742-01A-02D | ENST00000269305.4 | - | 8 | 1069 | TCGA |
tcga1887 | TP53 | 7157 | OT-TCGA | chr17 | 7577121 | 7577121 | g.chr17:7577121G>A | chr17:7577121-7577121 | c.817C>T | c.(817-819)Cgt>Tgt | p.R273C | Missense_Mutation | SNP | G | A | rs121913343 | TCGA-CN-5367-01A-01D | ENST00000269305.4 | - | 8 | 1006 | TCGA |
tcga1888 | TP53 | 7157 | OT-TCGA | chr17 | 7578449 | 7578449 | g.chr17:7578449C>T | chr17:7578449-7578449 | c.481G>A | c.(481-483)Gcc>Acc | p.A161T | Missense_Mutation | SNP | C | T | rs193920817 | TCGA-CN-5367-01A-01D | ENST00000269305.4 | - | 5 | 670 | TCGA |
tcga2024 | TP53 | 7157 | OT-TCGA | chr17 | 7578406 | 7578406 | g.chr17:7578406C>T | chr17:7578406-7578406 | c.524G>A | c.(523-525)cGc>cAc | p.R175H | Missense_Mutation | SNP | C | T | rs28934578 | TCGA-CN-5370-01A-01D | ENST00000269305.4 | - | 5 | 713 | TCGA |
tcga2025 | TP53 | 7157 | OT-TCGA | chr17 | 7578555 | 7578555 | g.chr17:7578555C>T | chr17:7578555-7578555 | | - | | Splice_Site | SNP | C | T | | TCGA-CN-5370-01A-01D | ENST00000269305.4 | - | 5 | 565 | TCGA |
tcga2158 | TP53 | 7157 | OT-TCGA | chr17 | 7574034 | 7574034 | g.chr17:7574034C>A | chr17:7574034-7574034 | | - | | Splice_Site | SNP | C | A | rs587782272 | TCGA-CN-6019-01A-11D | ENST00000269305.4 | - | 10 | 1183 | TCGA |
tcga2344 | TP53 | 7157 | OT-TCGA | chr17 | 7577144 | 7577144 | g.chr17:7577144A>C | chr17:7577144-7577144 | c.794T>G | c.(793-795)cTg>cGg | p.L265R | Missense_Mutation | SNP | A | C | | TCGA-CN-6024-01A-11D | ENST00000269305.4 | - | 8 | 983 | TCGA |
tcga2514 | TP53 | 7157 | OT-TCGA | chr17 | 7577568 | 7577568 | g.chr17:7577568C>A | chr17:7577568-7577568 | c.713G>T | c.(712-714)tGt>tTt | p.C238F | Missense_Mutation | SNP | C | A | | TCGA-CN-6996-01A-11D | ENST00000269305.4 | - | 7 | 902 | TCGA |
tcga2596 | TP53 | 7157 | OT-TCGA | chr17 | 7577022 | 7577022 | g.chr17:7577022G>A | chr17:7577022-7577022 | c.916C>T | c.(916-918)Cga>Tga | p.R306* | Nonsense_Mutation | SNP | G | A | rs121913344 | TCGA-CN-6998-01A-23D | ENST00000269305.4 | - | 8 | 1105 | TCGA |
tcga2706 | TP53 | 7157 | OT-TCGA | chr17 | 7578461 | 7578462 | g.chr17:7578461_7578462delCG | chr17:7578461-7578462 | c.468_469delCG | c.(466-471)cgcgtcfs | p.V157fs | Frame_Shift_Del | DEL | CG | - | rs121912654 | TCGA-CN-A640-01A-21D | ENST00000269305.4 | - | 5 | 657_658 | TCGA |
tcga3141 | TP53 | 7157 | OT-TCGA | chr17 | 7577120 | 7577120 | g.chr17:7577120C>T | chr17:7577120-7577120 | c.818G>A | c.(817-819)cGt>cAt | p.R273H | Missense_Mutation | SNP | C | T | rs28934576 | TCGA-CQ-5329-01A-01D | ENST00000269305.4 | - | 8 | 1007 | TCGA |
tcga3181 | TP53 | 7157 | OT-TCGA | chr17 | 7577142 | 7577142 | g.chr17:7577142C>T | chr17:7577142-7577142 | c.796G>A | c.(796-798)Gga>Aga | p.G266R | Missense_Mutation | SNP | C | T | | TCGA-CQ-5330-01A-01D | ENST00000269305.4 | - | 8 | 985 | TCGA |
tcga3323 | TP53 | 7157 | OT-TCGA | chr17 | 7578403 | 7578403 | g.chr17:7578403C>A | chr17:7578403-7578403 | c.527G>T | c.(526-528)tGc>tTc | p.C176F | Missense_Mutation | SNP | C | A | | TCGA-CQ-5333-01A-01D | ENST00000269305.4 | - | 5 | 716 | TCGA |
tcga3526 | TP53 | 7157 | OT-TCGA | chr17 | 7578211 | 7578211 | g.chr17:7578211C>G | chr17:7578211-7578211 | c.638G>C | c.(637-639)cGa>cCa | p.R213P | Missense_Mutation | SNP | C | G | rs587778720 | TCGA-CQ-6219-01A-11D | ENST00000269305.4 | - | 6 | 827 | TCGA |
tcga3653 | TP53 | 7157 | OT-TCGA | chr17 | 7577124 | 7577124 | g.chr17:7577124C>T | chr17:7577124-7577124 | c.814G>A | c.(814-816)Gtg>Atg | p.V272M | Missense_Mutation | SNP | C | T | rs121912657 | TCGA-CQ-6221-01A-11D | ENST00000269305.4 | - | 8 | 1003 | TCGA |
tcga3769 | TP53 | 7157 | OT-TCGA | chr17 | 7577094 | 7577094 | g.chr17:7577094G>A | chr17:7577094-7577094 | c.844C>T | c.(844-846)Cgg>Tgg | p.R282W | Missense_Mutation | SNP | G | A | rs28934574 | TCGA-CQ-6222-01A-11D | ENST00000269305.4 | - | 8 | 1033 | TCGA |
tcga3770 | TP53 | 7157 | OT-TCGA | chr17 | 7578212 | 7578212 | g.chr17:7578212G>A | chr17:7578212-7578212 | c.637C>T | c.(637-639)Cga>Tga | p.R213* | Nonsense_Mutation | SNP | G | A | rs397516436 | TCGA-CQ-6222-01A-11D | ENST00000269305.4 | - | 6 | 826 | TCGA |
tcga3853 | TP53 | 7157 | OT-TCGA | chr17 | 7577538 | 7577538 | g.chr17:7577538C>T | chr17:7577538-7577538 | c.743G>A | c.(742-744)cGg>cAg | p.R248Q | Missense_Mutation | SNP | C | T | rs11540652 | TCGA-CQ-6224-01A-11D | ENST00000269305.4 | - | 7 | 932 | TCGA |
tcga3961 | TP53 | 7157 | OT-TCGA | chr17 | 7578403 | 7578403 | g.chr17:7578403C>G | chr17:7578403-7578403 | c.527G>C | c.(526-528)tGc>tCc | p.C176S | Missense_Mutation | SNP | C | G | | TCGA-CQ-6225-01A-11D | ENST00000269305.4 | - | 5 | 716 | TCGA |
tcga4113 | TP53 | 7157 | OT-TCGA | chr17 | 7578212 | 7578212 | g.chr17:7578212G>A | chr17:7578212-7578212 | c.637C>T | c.(637-639)Cga>Tga | p.R213* | Nonsense_Mutation | SNP | G | A | rs397516436 | TCGA-CQ-6229-01A-11D | ENST00000269305.4 | - | 6 | 826 | TCGA |
tcga4159 | TP53 | 7157 | OT-TCGA | chr17 | 7578394 | 7578394 | g.chr17:7578394T>G | chr17:7578394-7578394 | c.536A>C | c.(535-537)cAt>cCt | p.H179P | Missense_Mutation | SNP | T | G | | TCGA-CQ-7065-01A-11D | ENST00000269305.4 | - | 5 | 725 | TCGA |
tcga4216 | TP53 | 7157 | OT-TCGA | chr17 | 7578263 | 7578263 | g.chr17:7578263G>A | chr17:7578263-7578263 | c.586C>T | c.(586-588)Cga>Tga | p.R196* | Nonsense_Mutation | SNP | G | A | rs397516435 | TCGA-CQ-A4CE-01A-11D | ENST00000269305.4 | - | 6 | 775 | TCGA |
tcga4284 | TP53 | 7157 | OT-TCGA | chr17 | 7579703 | 7579703 | g.chr17:7579703delA | chr17:7579703-7579703 | c.93delT | c.(91-93)gttfs | p.V31fs | Frame_Shift_Del | DEL | A | - | | TCGA-CQ-A4CH-01A-11D | ENST00000269305.4 | - | 3 | 282 | TCGA |
tcga4369 | TP53 | 7157 | OT-TCGA | chr17 | 7577594 | 7577595 | g.chr17:7577594_7577595delAC | chr17:7577594-7577595 | c.686_687delGT | c.(685-687)tgtfs | p.C229fs | Frame_Shift_Del | DEL | AC | - | | TCGA-CR-6493-01A-11D | ENST00000269305.4 | - | 7 | 875_876 | TCGA |
tcga4370 | TP53 | 7157 | OT-TCGA | chr17 | 7578550 | 7578550 | g.chr17:7578550G>T | chr17:7578550-7578550 | c.380C>A | c.(379-381)tCc>tAc | p.S127Y | Missense_Mutation | SNP | G | T | | TCGA-CR-6493-01A-11D | ENST00000269305.4 | - | 5 | 569 | TCGA |
tcga4418 | TP53 | 7157 | OT-TCGA | chr17 | 7579452 | 7579453 | g.chr17:7579452_7579453insGGG | chr17:7579452-7579453 | c.234_235insCCC | c.(232-237)gcAGagct>gcaCCCgagc | p.79_79A>PE | In_Frame_Ins | INS | CT | GGG | rs375099397 | TCGA-CR-7372-01A-11D | ENST00000269305.4 | - | 4 | 423_424 | TCGA |
tcga4632 | TP53 | 7157 | OT-TCGA | chr17 | 7579369 | 7579369 | g.chr17:7579369G>C | chr17:7579369-7579369 | c.318C>G | c.(316-318)agC>agG | p.S106R | Missense_Mutation | SNP | G | C | | TCGA-CR-7390-01A-11D | ENST00000269305.4 | - | 4 | 507 | TCGA |
tcga5076 | TP53 | 7157 | OT-TCGA | chr17 | 7577539 | 7577539 | g.chr17:7577539G>A | chr17:7577539-7577539 | c.742C>T | c.(742-744)Cgg>Tgg | p.R248W | Missense_Mutation | SNP | G | A | rs397516437|rs121912651 | TCGA-CR-7397-01A-11D | ENST00000269305.4 | - | 7 | 931 | TCGA |
tcga5153 | TP53 | 7157 | OT-TCGA | chr17 | 7578177 | 7578177 | g.chr17:7578177C>T | chr17:7578177-7578177 | c.672G>A | c.(670-672)gaG>gaA | p.E224E | Splice_Site | SNP | C | T | rs267605076 | TCGA-CR-7401-01A-11D | ENST00000269305.4 | - | 6 | 861 | TCGA |
tcga5317 | TP53 | 7157 | OT-TCGA | chr17 | 7577538 | 7577538 | g.chr17:7577538C>T | chr17:7577538-7577538 | c.743G>A | c.(742-744)cGg>cAg | p.R248Q | Missense_Mutation | SNP | C | T | rs11540652 | TCGA-CV-5970-01A-11D | ENST00000269305.4 | - | 7 | 932 | TCGA |
tcga5573 | TP53 | 7157 | OT-TCGA | chr17 | 7577538 | 7577538 | g.chr17:7577538C>T | chr17:7577538-7577538 | c.743G>A | c.(742-744)cGg>cAg | p.R248Q | Missense_Mutation | SNP | C | T | rs11540652 | TCGA-CV-5970-01A-11D | ENST00000269305.4 | - | 7 | 932 | TCGA |
tcga5796 | TP53 | 7157 | OT-TCGA | chr17 | 7577094 | 7577094 | g.chr17:7577094G>A | chr17:7577094-7577094 | c.844C>T | c.(844-846)Cgg>Tgg | p.R282W | Missense_Mutation | SNP | G | A | rs28934574 | TCGA-CV-5973-01A-11D | ENST00000269305.4 | - | 8 | 1033 | TCGA |
tcga5873 | TP53 | 7157 | OT-TCGA | chr17 | 7578190 | 7578190 | g.chr17:7578190T>C | chr17:7578190-7578190 | c.659A>G | c.(658-660)tAt>tGt | p.Y220C | Missense_Mutation | SNP | T | C | rs121912666 | TCGA-CV-5976-01A-11D | ENST00000269305.4 | - | 6 | 848 | TCGA |
tcga5874 | TP53 | 7157 | OT-TCGA | chr17 | 7579358 | 7579358 | g.chr17:7579358C>A | chr17:7579358-7579358 | c.329G>T | c.(328-330)cGt>cTt | p.R110L | Missense_Mutation | SNP | C | A | rs11540654|rs587780066 | TCGA-CV-5976-01A-11D | ENST00000269305.4 | - | 4 | 518 | TCGA |
tcga5977 | TP53 | 7157 | OT-TCGA | chr17 | 7576853 | 7576853 | g.chr17:7576853C>T | chr17:7576853-7576853 | c.993G>A | c.(991-993)caG>caA | p.Q331Q | Splice_Site | SNP | C | T | rs11575996 | TCGA-CV-5977-01A-11D | ENST00000269305.4 | - | 9 | 1182 | TCGA |
tcga5978 | TP53 | 7157 | OT-TCGA | chr17 | 7577082 | 7577082 | g.chr17:7577082C>T | chr17:7577082-7577082 | c.856G>A | c.(856-858)Gaa>Aaa | p.E286K | Missense_Mutation | SNP | C | T | | TCGA-CV-5977-01A-11D | ENST00000269305.4 | - | 8 | 1045 | TCGA |
tcga6071 | TP53 | 7157 | OT-TCGA | chr17 | 7577538 | 7577538 | g.chr17:7577538C>T | chr17:7577538-7577538 | c.743G>A | c.(742-744)cGg>cAg | p.R248Q | Missense_Mutation | SNP | C | T | rs11540652 | TCGA-CV-5979-01A-11D | ENST00000269305.4 | - | 7 | 932 | TCGA |
tcga6139 | TP53 | 7157 | OT-TCGA | chr17 | 7574003 | 7574003 | g.chr17:7574003G>A | chr17:7574003-7574003 | c.1024C>T | c.(1024-1026)Cga>Tga | p.R342* | Nonsense_Mutation | SNP | G | A | | TCGA-CV-6003-01A-11D | ENST00000269305.4 | - | 10 | 1213 | TCGA |
tcga6325 | TP53 | 7157 | OT-TCGA | chr17 | 7577120 | 7577120 | g.chr17:7577120C>T | chr17:7577120-7577120 | c.818G>A | c.(817-819)cGt>cAt | p.R273H | Missense_Mutation | SNP | C | T | rs28934576 | TCGA-CV-6436-01A-11D | ENST00000269305.4 | - | 8 | 1007 | TCGA |
tcga6755 | TP53 | 7157 | OT-TCGA | chr17 | 7578275 | 7578275 | g.chr17:7578275G>A | chr17:7578275-7578275 | c.574C>T | c.(574-576)Cag>Tag | p.Q192* | Nonsense_Mutation | SNP | G | A | | TCGA-CV-6933-01A-11D | ENST00000269305.4 | - | 6 | 763 | TCGA |
tcga6955 | TP53 | 7157 | OT-TCGA | chr17 | 7578275 | 7578275 | g.chr17:7578275G>A | chr17:7578275-7578275 | c.574C>T | c.(574-576)Cag>Tag | p.Q192* | Nonsense_Mutation | SNP | G | A | | TCGA-CV-6933-01A-11D | ENST00000269305.4 | - | 6 | 763 | TCGA |
tcga7129 | TP53 | 7157 | OT-TCGA | chr17 | 7578235 | 7578235 | g.chr17:7578235T>C | chr17:7578235-7578235 | c.614A>G | c.(613-615)tAt>tGt | p.Y205C | Missense_Mutation | SNP | T | C | | TCGA-CV-6934-01A-11D | ENST00000269305.4 | - | 6 | 803 | TCGA |
tcga7244 | TP53 | 7157 | OT-TCGA | chr17 | 7578235 | 7578235 | g.chr17:7578235T>C | chr17:7578235-7578235 | c.614A>G | c.(613-615)tAt>tGt | p.Y205C | Missense_Mutation | SNP | T | C | | TCGA-CV-6934-01A-11D | ENST00000269305.4 | - | 6 | 803 | TCGA |
tcga7501 | TP53 | 7157 | OT-TCGA | chr17 | 7578384 | 7578401 | g.chr17:7578384_7578401delGCAGCGCTCATGGTGGGG | chr17:7578384-7578401 | c.529_546delCCCCACCATGAGCGCTGC | c.(529-546)ccccaccatgagcgctgcd | p.PHHERC177del | In_Frame_Del | DEL | GCAGCGCTCATGGTGGGG | - | rs147002414|rs587782596|rs587780070|rs397514495 | TCGA-CV-6941-01A-11D | ENST00000269305.4 | - | 5 | 718_735 | TCGA |
tcga7712 | TP53 | 7157 | OT-TCGA | chr17 | 7578271 | 7578271 | g.chr17:7578271T>A | chr17:7578271-7578271 | c.578A>T | c.(577-579)cAt>cTt | p.H193L | Missense_Mutation | SNP | T | A | | TCGA-CV-6945-01A-11D | ENST00000269305.4 | - | 6 | 767 | TCGA |
tcga7903 | TP53 | 7157 | OT-TCGA | chr17 | 7577129 | 7577129 | g.chr17:7577129A>C | chr17:7577129-7577129 | c.809T>G | c.(808-810)tTt>tGt | p.F270C | Missense_Mutation | SNP | A | C | | TCGA-CV-6951-01A-11D | ENST00000269305.4 | - | 8 | 998 | TCGA |
tcga7904 | TP53 | 7157 | OT-TCGA | chr17 | 7578217 | 7578217 | g.chr17:7578217G>A | chr17:7578217-7578217 | c.632C>T | c.(631-633)aCt>aTt | p.T211I | Missense_Mutation | SNP | G | A | | TCGA-CV-6951-01A-11D | ENST00000269305.4 | - | 6 | 821 | TCGA |
tcga8093 | TP53 | 7157 | OT-TCGA | chr17 | 7577129 | 7577129 | g.chr17:7577129A>C | chr17:7577129-7577129 | c.809T>G | c.(808-810)tTt>tGt | p.F270C | Missense_Mutation | SNP | A | C | | TCGA-CV-6951-01A-11D | ENST00000269305.4 | - | 8 | 998 | TCGA |
tcga8094 | TP53 | 7157 | OT-TCGA | chr17 | 7578217 | 7578217 | g.chr17:7578217G>A | chr17:7578217-7578217 | c.632C>T | c.(631-633)aCt>aTt | p.T211I | Missense_Mutation | SNP | G | A | | TCGA-CV-6951-01A-11D | ENST00000269305.4 | - | 6 | 821 | TCGA |
tcga8287 | TP53 | 7157 | OT-TCGA | chr17 | 7577114 | 7577114 | g.chr17:7577114C>A | chr17:7577114-7577114 | c.824G>T | c.(823-825)tGt>tTt | p.C275F | Missense_Mutation | SNP | C | A | | TCGA-CV-6952-01A-11D | ENST00000269305.4 | - | 8 | 1013 | TCGA |
tcga8501 | TP53 | 7157 | OT-TCGA | chr17 | 7577114 | 7577114 | g.chr17:7577114C>A | chr17:7577114-7577114 | c.824G>T | c.(823-825)tGt>tTt | p.C275F | Missense_Mutation | SNP | C | A | | TCGA-CV-6952-01A-11D | ENST00000269305.4 | - | 8 | 1013 | TCGA |
tcga9082 | TP53 | 7157 | OT-TCGA | chr17 | 7579356 | 7579359 | g.chr17:7579356_7579359delGACG | chr17:7579356-7579359 | c.328_331delCGTC | c.(328-333)cgtctgfs | p.RL110fs | Frame_Shift_Del | DEL | GACG | - | rs587781371|rs11540654|rs587780066 | TCGA-CV-6956-01A-21D | ENST00000269305.4 | - | 4 | 517_520 | TCGA |
tcga9326 | TP53 | 7157 | OT-TCGA | chr17 | 7579356 | 7579359 | g.chr17:7579356_7579359delGACG | chr17:7579356-7579359 | c.328_331delCGTC | c.(328-333)cgtctgfs | p.RL110fs | Frame_Shift_Del | DEL | GACG | - | rs587781371|rs11540654|rs587780066 | TCGA-CV-6956-01A-21D | ENST00000269305.4 | - | 4 | 517_520 | TCGA |
tcga9502 | TP53 | 7157 | OT-TCGA | chr17 | 7579390 | 7579393 | g.chr17:7579390_7579393delGGAA | chr17:7579390-7579393 | c.294_297delTTCC | c.(292-297)ccttccfs | p.PS98fs | Frame_Shift_Del | DEL | GGAA | - | | TCGA-CV-6959-01A-11D | ENST00000269305.4 | - | 4 | 483_486 | TCGA |
tcga11146 | TP53 | 7157 | OT-TCGA | chr17 | 7578471 | 7578478 | g.chr17:7578471_7578478delGGGCGGGG | chr17:7578471-7578478 | c.452_459delCCCCGCCC | c.(451-459)cccccgcccfs | p.PPP151fs | Frame_Shift_Del | DEL | GGGCGGGG | - | rs587782705|rs137852790|rs137852791|rs72661116 | TCGA-CV-7103-01A-21D | ENST00000269305.4 | - | 5 | 641_648 | TCGA |
tcga11369 | TP53 | 7157 | OT-TCGA | chr17 | 7577609 | 7577609 | g.chr17:7577609C>T | chr17:7577609-7577609 | | - | | Splice_Site | SNP | C | T | | TCGA-CV-7104-01A-11D | ENST00000269305.4 | - | 7 | 862 | TCGA |
tcga11370 | TP53 | 7157 | OT-TCGA | chr17 | 7579575 | 7579575 | g.chr17:7579575G>A | chr17:7579575-7579575 | c.112C>T | c.(112-114)Caa>Taa | p.Q38* | Nonsense_Mutation | SNP | G | A | | TCGA-CV-7104-01A-11D | ENST00000269305.4 | - | 4 | 301 | TCGA |
tcga11509 | TP53 | 7157 | OT-TCGA | chr17 | 7577539 | 7577539 | g.chr17:7577539G>A | chr17:7577539-7577539 | c.742C>T | c.(742-744)Cgg>Tgg | p.R248W | Missense_Mutation | SNP | G | A | rs397516437|rs121912651 | TCGA-CV-7180-01A-11D | ENST00000269305.4 | - | 7 | 931 | TCGA |
tcga11579 | TP53 | 7157 | OT-TCGA | chr17 | 7578503 | 7578503 | g.chr17:7578503C>T | chr17:7578503-7578503 | c.427G>A | c.(427-429)Gtg>Atg | p.V143M | Missense_Mutation | SNP | C | T | rs587782620 | TCGA-CV-7236-01A-11D | ENST00000269305.4 | - | 5 | 616 | TCGA |
tcga11684 | TP53 | 7157 | OT-TCGA | chr17 | 7578263 | 7578263 | g.chr17:7578263G>A | chr17:7578263-7578263 | c.586C>T | c.(586-588)Cga>Tga | p.R196* | Nonsense_Mutation | SNP | G | A | rs397516435 | TCGA-CV-7238-01A-11D | ENST00000269305.4 | - | 6 | 775 | TCGA |
tcga11884 | TP53 | 7157 | OT-TCGA | chr17 | 7578263 | 7578263 | g.chr17:7578263G>A | chr17:7578263-7578263 | c.586C>T | c.(586-588)Cga>Tga | p.R196* | Nonsense_Mutation | SNP | G | A | rs397516435 | TCGA-CV-7238-01A-11D | ENST00000269305.4 | - | 6 | 775 | TCGA |
tcga12058 | TP53 | 7157 | OT-TCGA | chr17 | 7578446 | 7578466 | g.chr17:7578446_7578466delTGGCCATGGCGCGGACGCGGG | chr17:7578446-7578466 | c.464_484delCCCGCGTCCGCGCCATGG | c.(463-486)acccgcgtccgcgccatgg | p.TRVRAMA155del | In_Frame_Del | DEL | TGGCCATGGCGCGGACGCGGG | - | rs377274728|rs371524413|rs139200646|rs563378859|rs193920817|rs587780068|rs121912654|rs587782144 | TCGA-CV-7243-01A-11D | ENST00000269305.4 | - | 5 | 653_673 | TCGA |
tcga12196 | TP53 | 7157 | OT-TCGA | chr17 | 7577022 | 7577022 | g.chr17:7577022G>A | chr17:7577022-7577022 | c.916C>T | c.(916-918)Cga>Tga | p.R306* | Nonsense_Mutation | SNP | G | A | rs121913344 | TCGA-CV-7255-01A-11D | ENST00000269305.4 | - | 8 | 1105 | TCGA |
tcga12334 | TP53 | 7157 | OT-TCGA | chr17 | 7577022 | 7577022 | g.chr17:7577022G>A | chr17:7577022-7577022 | c.916C>T | c.(916-918)Cga>Tga | p.R306* | Nonsense_Mutation | SNP | G | A | rs121913344 | TCGA-CV-7255-01A-11D | ENST00000269305.4 | - | 8 | 1105 | TCGA |
tcga12473 | TP53 | 7157 | OT-TCGA | chr17 | 7578212 | 7578212 | g.chr17:7578212G>A | chr17:7578212-7578212 | c.637C>T | c.(637-639)Cga>Tga | p.R213* | Nonsense_Mutation | SNP | G | A | rs397516436 | TCGA-CV-7438-01A-21D | ENST00000269305.4 | - | 6 | 826 | TCGA |
tcga12669 | TP53 | 7157 | OT-TCGA | chr17 | 7578442 | 7578442 | g.chr17:7578442T>C | chr17:7578442-7578442 | c.488A>G | c.(487-489)tAc>tGc | p.Y163C | Missense_Mutation | SNP | T | C | rs148924904 | TCGA-CV-7446-01A-11D | ENST00000269305.4 | - | 5 | 677 | TCGA |
tcga12868 | TP53 | 7157 | OT-TCGA | chr17 | 7577090 | 7577090 | g.chr17:7577090C>T | chr17:7577090-7577090 | c.848G>A | c.(847-849)cGc>cAc | p.R283H | Missense_Mutation | SNP | C | T | rs371409680 | TCGA-CV-A45P-01A-11D | ENST00000269305.4 | - | 8 | 1037 | TCGA |
tcga13044 | TP53 | 7157 | OT-TCGA | chr17 | 7577106 | 7577106 | g.chr17:7577106G>A | chr17:7577106-7577106 | c.832C>T | c.(832-834)Cct>Tct | p.P278S | Missense_Mutation | SNP | G | A | rs17849781 | TCGA-CV-A45R-01A-11D | ENST00000269305.4 | - | 8 | 1021 | TCGA |
tcga13154 | TP53 | 7157 | OT-TCGA | chr17 | 7579358 | 7579358 | g.chr17:7579358C>A | chr17:7579358-7579358 | c.329G>T | c.(328-330)cGt>cTt | p.R110L | Missense_Mutation | SNP | C | A | rs11540654|rs587780066 | TCGA-CV-A465-01A-11D | ENST00000269305.4 | - | 4 | 518 | TCGA |
tcga13293 | TP53 | 7157 | OT-TCGA | chr17 | 7574018 | 7574018 | g.chr17:7574018G>A | chr17:7574018-7574018 | c.1009C>T | c.(1009-1011)Cgc>Tgc | p.R337C | Missense_Mutation | SNP | G | A | rs587782529 | TCGA-CV-A6JT-01A-11D | ENST00000269305.4 | - | 10 | 1198 | TCGA |
tcga13294 | TP53 | 7157 | OT-TCGA | chr17 | 7577580 | 7577580 | g.chr17:7577580T>C | chr17:7577580-7577580 | c.701A>G | c.(700-702)tAc>tGc | p.Y234C | Missense_Mutation | SNP | T | C | rs587780073 | TCGA-CV-A6JT-01A-11D | ENST00000269305.4 | - | 7 | 890 | TCGA |
tcga13399 | TP53 | 7157 | OT-TCGA | chr17 | 7578176 | 7578176 | g.chr17:7578176C>A | chr17:7578176-7578176 | | - | | Splice_Site | SNP | C | A | | TCGA-CV-A6JU-01A-11D | ENST00000269305.4 | - | 6 | 862 | TCGA |
tcga13743 | TP53 | 7157 | OT-TCGA | chr17 | 7577120 | 7577120 | g.chr17:7577120C>T | chr17:7577120-7577120 | c.818G>A | c.(817-819)cGt>cAt | p.R273H | Missense_Mutation | SNP | C | T | rs28934576 | TCGA-D6-6515-01A-21D | ENST00000269305.4 | - | 8 | 1007 | TCGA |
tcga13848 | TP53 | 7157 | OT-TCGA | chr17 | 7578520 | 7578520 | g.chr17:7578520A>T | chr17:7578520-7578520 | c.410T>A | c.(409-411)cTg>cAg | p.L137Q | Missense_Mutation | SNP | A | T | | TCGA-D6-6823-01A-11D | ENST00000269305.4 | - | 5 | 599 | TCGA |
tcga14012 | TP53 | 7157 | OT-TCGA | chr17 | 7578369 | 7578369 | g.chr17:7578369A>C | chr17:7578369-7578369 | | - | | Splice_Site | SNP | A | C | | TCGA-D6-6825-01A-21D | ENST00000269305.4 | - | 5 | 749 | TCGA |
tcga14132 | TP53 | 7157 | OT-TCGA | chr17 | 7577109 | 7577109 | g.chr17:7577109A>C | chr17:7577109-7577109 | c.829T>G | c.(829-831)Tgt>Ggt | p.C277G | Missense_Mutation | SNP | A | C | | TCGA-D6-8569-01A-11D | ENST00000269305.4 | - | 8 | 1018 | TCGA |
tcga14280 | TP53 | 7157 | OT-TCGA | chr17 | 7578442 | 7578442 | g.chr17:7578442T>C | chr17:7578442-7578442 | c.488A>G | c.(487-489)tAc>tGc | p.Y163C | Missense_Mutation | SNP | T | C | rs148924904 | TCGA-D6-A4Z9-01A-11D | ENST00000269305.4 | - | 5 | 677 | TCGA |
tcga14425 | TP53 | 7157 | OT-TCGA | chr17 | 7578268 | 7578268 | g.chr17:7578268A>C | chr17:7578268-7578268 | c.581T>G | c.(580-582)cTt>cGt | p.L194R | Missense_Mutation | SNP | A | C | | TCGA-D6-A4ZB-01A-11D | ENST00000269305.4 | - | 6 | 770 | TCGA |
tcga14626 | TP53 | 7157 | OT-TCGA | chr17 | 7578394 | 7578394 | g.chr17:7578394T>C | chr17:7578394-7578394 | c.536A>G | c.(535-537)cAt>cGt | p.H179R | Missense_Mutation | SNP | T | C | | TCGA-D6-A6EM-01A-21D | ENST00000269305.4 | - | 5 | 725 | TCGA |
tcga15091 | TP53 | 7157 | OT-TCGA | chr17 | 7576868 | 7576886 | g.chr17:7576868_7576886delTTCTCCATCCAGTGGTTTC | chr17:7576868-7576886 | c.960_978delGAAACCACTGGATGGAGA | c.(958-978)aagaaaccactggatggag | p.KKPLDGE320fs | Frame_Shift_Del | DEL | TTCTCCATCCAGTGGTTTC | - | rs121912659 | TCGA-DQ-5630-01A-01D | ENST00000269305.4 | - | 9 | 1149_1167 | TCGA |
tcga15202 | TP53 | 7157 | OT-TCGA | chr17 | 7574021 | 7574021 | g.chr17:7574021C>A | chr17:7574021-7574021 | c.1006G>T | c.(1006-1008)Gag>Tag | p.E336* | Nonsense_Mutation | SNP | C | A | | TCGA-DQ-5631-01A-01D | ENST00000269305.4 | - | 10 | 1195 | TCGA |
tcga15203 | TP53 | 7157 | OT-TCGA | chr17 | 7577548 | 7577548 | g.chr17:7577548C>T | chr17:7577548-7577548 | c.733G>A | c.(733-735)Ggc>Agc | p.G245S | Missense_Mutation | SNP | C | T | rs28934575|rs397516437 | TCGA-DQ-5631-01A-01D | ENST00000269305.4 | - | 7 | 922 | TCGA |
tcga15313 | TP53 | 7157 | OT-TCGA | chr17 | 7577575 | 7577575 | g.chr17:7577575A>C | chr17:7577575-7577575 | c.706T>G | c.(706-708)Tac>Gac | p.Y236D | Missense_Mutation | SNP | A | C | rs587782289 | TCGA-DQ-7592-01A-11D | ENST00000269305.4 | - | 7 | 895 | TCGA |
tcga15416 | TP53 | 7157 | OT-TCGA | chr17 | 7576853 | 7576853 | g.chr17:7576853C>A | chr17:7576853-7576853 | c.993G>T | c.(991-993)caG>caT | p.Q331H | Splice_Site | SNP | C | A | rs11575996 | TCGA-F7-A50G-01A-11D | ENST00000269305.4 | - | 9 | 1182 | TCGA |
tcga15767 | TP53 | 7157 | OT-TCGA | chr17 | 7577538 | 7577538 | g.chr17:7577538C>T | chr17:7577538-7577538 | c.743G>A | c.(742-744)cGg>cAg | p.R248Q | Missense_Mutation | SNP | C | T | rs11540652 | TCGA-F7-A61S-01A-11D | ENST00000269305.4 | - | 7 | 932 | TCGA |
tcga15898 | TP53 | 7157 | OT-TCGA | chr17 | 7576862 | 7576863 | g.chr17:7576862_7576863insA | chr17:7576862-7576863 | c.983_984insT | c.(982-984)ttcfs | p.F328fs | Frame_Shift_Ins | INS | - | A | | TCGA-F7-A61W-01A-11D | ENST00000269305.4 | - | 9 | 1172_1173 | TCGA |
tcga15974 | TP53 | 7157 | OT-TCGA | chr17 | 7578263 | 7578263 | g.chr17:7578263G>A | chr17:7578263-7578263 | c.586C>T | c.(586-588)Cga>Tga | p.R196* | Nonsense_Mutation | SNP | G | A | rs397516435 | TCGA-H7-A6C4-01A-11D | ENST00000269305.4 | - | 6 | 775 | TCGA |
tcga16017 | TP53 | 7157 | OT-TCGA | chr17 | 7578205 | 7578206 | g.chr17:7578205_7578206insT | chr17:7578205-7578206 | c.643_644insA | c.(643-645)agtfs | p.S215fs | Frame_Shift_Ins | INS | - | T | rs587782177 | TCGA-HD-7831-01A-11D | ENST00000269305.4 | - | 6 | 832_833 | TCGA |
tcga16080 | TP53 | 7157 | OT-TCGA | chr17 | 7578457 | 7578457 | g.chr17:7578457C>A | chr17:7578457-7578457 | c.473G>T | c.(472-474)cGc>cTc | p.R158L | Missense_Mutation | SNP | C | A | rs587782144 | TCGA-HD-8634-01A-11D | ENST00000269305.4 | - | 5 | 662 | TCGA |
tcga16221 | TP53 | 7157 | OT-TCGA | chr17 | 7578394 | 7578394 | g.chr17:7578394T>C | chr17:7578394-7578394 | c.536A>G | c.(535-537)cAt>cGt | p.H179R | Missense_Mutation | SNP | T | C | | TCGA-HD-8635-01A-11D | ENST00000269305.4 | - | 5 | 725 | TCGA |
tcga16492 | TP53 | 7157 | OT-TCGA | chr17 | 7578394 | 7578394 | g.chr17:7578394T>C | chr17:7578394-7578394 | c.536A>G | c.(535-537)cAt>cGt | p.H179R | Missense_Mutation | SNP | T | C | | TCGA-HD-8635-01A-11D | ENST00000269305.4 | - | 5 | 725 | TCGA |
tcga16714 | TP53 | 7157 | OT-TCGA | chr17 | 7577022 | 7577022 | g.chr17:7577022G>A | chr17:7577022-7577022 | c.916C>T | c.(916-918)Cga>Tga | p.R306* | Nonsense_Mutation | SNP | G | A | rs121913344 | TCGA-HD-A6HZ-01A-12D | ENST00000269305.4 | - | 8 | 1105 | TCGA |
tcga16715 | TP53 | 7157 | OT-TCGA | chr17 | 7577574 | 7577574 | g.chr17:7577574T>C | chr17:7577574-7577574 | c.707A>G | c.(706-708)tAc>tGc | p.Y236C | Missense_Mutation | SNP | T | C | | TCGA-HD-A6HZ-01A-12D | ENST00000269305.4 | - | 7 | 896 | TCGA |
tcga16862 | TP53 | 7157 | OT-TCGA | chr17 | 7573010 | 7573010 | g.chr17:7573010T>A | chr17:7573010-7573010 | | - | | Splice_Site | SNP | T | A | rs587781664 | TCGA-IQ-A61E-01A-22D | ENST00000269305.4 | - | 11 | 1290 | TCGA |
tcga17087 | TP53 | 7157 | OT-TCGA | chr17 | 7578263 | 7578263 | g.chr17:7578263G>A | chr17:7578263-7578263 | c.586C>T | c.(586-588)Cga>Tga | p.R196* | Nonsense_Mutation | SNP | G | A | rs397516435 | TCGA-IQ-A61H-01A-11D | ENST00000269305.4 | - | 6 | 775 | TCGA |
tcga17233 | TP53 | 7157 | OT-TCGA | chr17 | 7579311 | 7579311 | g.chr17:7579311C>A | chr17:7579311-7579311 | | - | | Splice_Site | SNP | C | A | | TCGA-IQ-A61J-01A-11D | ENST00000269305.4 | - | 4 | 565 | TCGA |
tcga17292 | TP53 | 7157 | OT-TCGA | chr17 | 7578406 | 7578406 | g.chr17:7578406C>T | chr17:7578406-7578406 | c.524G>A | c.(523-525)cGc>cAc | p.R175H | Missense_Mutation | SNP | C | T | rs28934578 | TCGA-IQ-A61K-01A-11D | ENST00000269305.4 | - | 5 | 713 | TCGA |
tcga17383 | TP53 | 7157 | OT-TCGA | chr17 | 7577538 | 7577538 | g.chr17:7577538C>T | chr17:7577538-7577538 | c.743G>A | c.(742-744)cGg>cAg | p.R248Q | Missense_Mutation | SNP | C | T | rs11540652 | TCGA-IQ-A61L-01A-11D | ENST00000269305.4 | - | 7 | 932 | TCGA |
tcga17384 | TP53 | 7157 | OT-TCGA | chr17 | 7577539 | 7577539 | g.chr17:7577539G>A | chr17:7577539-7577539 | c.742C>T | c.(742-744)Cgg>Tgg | p.R248W | Missense_Mutation | SNP | G | A | rs397516437|rs121912651 | TCGA-IQ-A61L-01A-11D | ENST00000269305.4 | - | 7 | 931 | TCGA |
tcga17501 | TP53 | 7157 | OT-TCGA | chr17 | 7577094 | 7577094 | g.chr17:7577094G>A | chr17:7577094-7577094 | c.844C>T | c.(844-846)Cgg>Tgg | p.R282W | Missense_Mutation | SNP | G | A | rs28934574 | TCGA-IQ-A6SG-01A-12D | ENST00000269305.4 | - | 8 | 1033 | TCGA |
tcga17623 | TP53 | 7157 | OT-TCGA | chr17 | 7578275 | 7578275 | g.chr17:7578275G>A | chr17:7578275-7578275 | c.574C>T | c.(574-576)Cag>Tag | p.Q192* | Nonsense_Mutation | SNP | G | A | | TCGA-IQ-A6SH-01A-12D | ENST00000269305.4 | - | 6 | 763 | TCGA |
tcga17961 | TP53 | 7157 | OT-TCGA | chr17 | 7578272 | 7578272 | g.chr17:7578272G>A | chr17:7578272-7578272 | c.577C>T | c.(577-579)Cat>Tat | p.H193Y | Missense_Mutation | SNP | G | A | | TCGA-P3-A5QA-01A-11D | ENST00000269305.4 | - | 6 | 766 | TCGA |
tcga18036 | TP53 | 7157 | OT-TCGA | chr17 | 7577538 | 7577538 | g.chr17:7577538C>T | chr17:7577538-7577538 | c.743G>A | c.(742-744)cGg>cAg | p.R248Q | Missense_Mutation | SNP | C | T | rs11540652 | TCGA-QK-A652-01A-11D | ENST00000269305.4 | - | 7 | 932 | TCGA |
tcga18037 | TP53 | 7157 | OT-TCGA | chr17 | 7577548 | 7577548 | g.chr17:7577548C>T | chr17:7577548-7577548 | c.733G>A | c.(733-735)Ggc>Agc | p.G245S | Missense_Mutation | SNP | C | T | rs28934575|rs397516437 | TCGA-QK-A652-01A-11D | ENST00000269305.4 | - | 7 | 922 | TCGA |
tcga18129 | TP53 | 7157 | OT-TCGA | chr17 | 7579358 | 7579358 | g.chr17:7579358C>A | chr17:7579358-7579358 | c.329G>T | c.(328-330)cGt>cTt | p.R110L | Missense_Mutation | SNP | C | A | rs11540654|rs587780066 | TCGA-QK-AA3K-01A-11D | ENST00000269305.4 | - | 4 | 518 | TCGA |
tcga18485 | TP53 | 7157 | OT-TCGA | chr17 | 7577124 | 7577124 | g.chr17:7577124C>T | chr17:7577124-7577124 | c.814G>A | c.(814-816)Gtg>Atg | p.V272M | Missense_Mutation | SNP | C | T | rs121912657 | TCGA-T2-A6WZ-01A-21D | ENST00000269305.4 | - | 8 | 1003 | TCGA |
tcga18486 | TP53 | 7157 | OT-TCGA | chr17 | 7578176 | 7578176 | g.chr17:7578176C>A | chr17:7578176-7578176 | | - | | Splice_Site | SNP | C | A | | TCGA-T2-A6WZ-01A-21D | ENST00000269305.4 | - | 6 | 862 | TCGA |
tcga18619 | TP53 | 7157 | OT-TCGA | chr17 | 7577094 | 7577094 | g.chr17:7577094G>A | chr17:7577094-7577094 | c.844C>T | c.(844-846)Cgg>Tgg | p.R282W | Missense_Mutation | SNP | G | A | rs28934574 | TCGA-UF-A7JS-01A-11D | ENST00000269305.4 | - | 8 | 1033 | TCGA |
tcga18620 | TP53 | 7157 | OT-TCGA | chr17 | 7578406 | 7578406 | g.chr17:7578406C>T | chr17:7578406-7578406 | c.524G>A | c.(523-525)cGc>cAc | p.R175H | Missense_Mutation | SNP | C | T | rs28934578 | TCGA-UF-A7JS-01A-11D | ENST00000269305.4 | - | 5 | 713 | TCGA |
tcga19305 | TP53 | 7157 | BM-TCGA | chr17 | 7578503 | 7578503 | g.chr17:7578503C>T | chr17:7578503-7578503 | c.427G>A | c.(427-429)Gtg>Atg | p.V143M | Missense_Mutation | SNP | C | T | rs587782620 | TCGA-BA-5151-01A-01D | ENST00000269305.4 | - | 5 | 616 | TCGA |
tcga19404 | TP53 | 7157 | BM-TCGA | chr17 | 7579310 | 7579310 | g.chr17:7579310A>T | chr17:7579310-7579310 | | - | | Splice_Site | SNP | A | T | | TCGA-CN-4726-01A-01D | ENST00000269305.4 | - | 4 | 565 | TCGA |
tcga19518 | TP53 | 7157 | BM-TCGA | chr17 | 7578419 | 7578419 | g.chr17:7578419C>A | chr17:7578419-7578419 | c.511G>T | c.(511-513)Gag>Tag | p.E171* | Nonsense_Mutation | SNP | C | A | rs587781845 | TCGA-CN-4731-01A-01D | ENST00000269305.4 | - | 5 | 700 | TCGA |
tcga19993 | TP53 | 7157 | BM-TCGA | chr17 | 7578433 | 7578433 | g.chr17:7578433G>C | chr17:7578433-7578433 | c.497C>G | c.(496-498)tCa>tGa | p.S166* | Nonsense_Mutation | SNP | G | C | | TCGA-CQ-5334-01A-01D | ENST00000269305.4 | - | 5 | 686 | TCGA |
tcga19994 | TP53 | 7157 | BM-TCGA | chr17 | 7578457 | 7578457 | g.chr17:7578457C>T | chr17:7578457-7578457 | c.473G>A | c.(472-474)cGc>cAc | p.R158H | Missense_Mutation | SNP | C | T | rs587782144 | TCGA-CQ-5334-01A-01D | ENST00000269305.4 | - | 5 | 662 | TCGA |
tcga20190 | TP53 | 7157 | BM-TCGA | chr17 | 7577100 | 7577100 | g.chr17:7577100T>C | chr17:7577100-7577100 | c.838A>G | c.(838-840)Aga>Gga | p.R280G | Missense_Mutation | SNP | T | C | | TCGA-CQ-6220-01A-11D | ENST00000269305.4 | - | 8 | 1027 | TCGA |
tcga20316 | TP53 | 7157 | BM-TCGA | chr17 | 7577548 | 7577548 | g.chr17:7577548C>T | chr17:7577548-7577548 | c.733G>A | c.(733-735)Ggc>Agc | p.G245S | Missense_Mutation | SNP | C | T | rs28934575|rs397516437 | TCGA-CQ-7064-01A-11D | ENST00000269305.4 | - | 7 | 922 | TCGA |
tcga20317 | TP53 | 7157 | BM-TCGA | chr17 | 7578442 | 7578442 | g.chr17:7578442T>C | chr17:7578442-7578442 | c.488A>G | c.(487-489)tAc>tGc | p.Y163C | Missense_Mutation | SNP | T | C | rs148924904 | TCGA-CQ-7064-01A-11D | ENST00000269305.4 | - | 5 | 677 | TCGA |
tcga20452 | TP53 | 7157 | BM-TCGA | chr17 | 7577058 | 7577058 | g.chr17:7577058C>A | chr17:7577058-7577058 | c.880G>T | c.(880-882)Gag>Tag | p.E294* | Nonsense_Mutation | SNP | C | A | | TCGA-CQ-A4C6-01A-11D | ENST00000269305.4 | - | 8 | 1069 | TCGA |
tcga20682 | TP53 | 7157 | BM-TCGA | chr17 | 7577005 | 7577025 | g.chr17:7577005_7577025delTCCTGCTTGCTTACCTCGCTT | chr17:7577005-7577025 | c.913_920delAAGCGAGGTAAGCAAGCA | c.(913-921)aagcgaggt>t | p.KRG305del | Splice_Site | DEL | TCCTGCTTGCTTACCTCGCTT | CTGCTG | rs121913344|rs199527475 | TCGA-CQ-A4CI-01A-11D | ENST00000269305.4 | - | 8 | 1102_1109 | TCGA |
tcga20834 | TP53 | 7157 | BM-TCGA | chr17 | 7577102 | 7577119 | g.chr17:7577102_7577119delCCAGGACAGGCACAAACA | chr17:7577102-7577119 | c.819_836delTGTTTGTGCCTGTCCTGG | c.(817-837)cgtgtttgtgcctgtcctg | p.VCACPG274del | In_Frame_Del | DEL | CCAGGACAGGCACAAACA | - | rs17849781 | TCGA-CV-6940-01A-11D | ENST00000269305.4 | - | 8 | 1008_1025 | TCGA |
tcga20960 | TP53 | 7157 | BM-TCGA | chr17 | 7577538 | 7577538 | g.chr17:7577538C>T | chr17:7577538-7577538 | c.743G>A | c.(742-744)cGg>cAg | p.R248Q | Missense_Mutation | SNP | C | T | rs11540652 | TCGA-CV-A464-01A-11D | ENST00000269305.4 | - | 7 | 932 | TCGA |
tcga20961 | TP53 | 7157 | BM-TCGA | chr17 | 7578406 | 7578406 | g.chr17:7578406C>T | chr17:7578406-7578406 | c.524G>A | c.(523-525)cGc>cAc | p.R175H | Missense_Mutation | SNP | C | T | rs28934578 | TCGA-CV-A464-01A-11D | ENST00000269305.4 | - | 5 | 713 | TCGA |
tcga21151 | TP53 | 7157 | BM-TCGA | chr17 | 7578398 | 7578398 | g.chr17:7578398delG | chr17:7578398-7578398 | c.532delC | c.(532-534)cacfs | p.H179fs | Frame_Shift_Del | DEL | G | - | | TCGA-DQ-7588-01A-11D | ENST00000269305.4 | - | 5 | 721 | TCGA |
tcga22558 | TP53 | 7157 | BM-TCGA | chr17 | 7577514 | 7577514 | g.chr17:7577514G>A | chr17:7577514-7577514 | c.767C>T | c.(766-768)aCa>aTa | p.T256I | Missense_Mutation | SNP | G | A | | TCGA-F7-A624-01A-22D | ENST00000269305.4 | - | 7 | 956 | TCGA |
tcga22559 | TP53 | 7157 | BM-TCGA | chr17 | 7577566 | 7577566 | g.chr17:7577566T>C | chr17:7577566-7577566 | c.715A>G | c.(715-717)Aac>Gac | p.N239D | Missense_Mutation | SNP | T | C | | TCGA-F7-A624-01A-22D | ENST00000269305.4 | - | 7 | 904 | TCGA |
tcga25280 | TP53 | 7157 | BM-TCGA | chr17 | 7578442 | 7578442 | g.chr17:7578442T>C | chr17:7578442-7578442 | c.488A>G | c.(487-489)tAc>tGc | p.Y163C | Missense_Mutation | SNP | T | C | rs148924904 | TCGA-H7-8501-01A-11D | ENST00000269305.4 | - | 5 | 677 | TCGA |
tcga25281 | TP53 | 7157 | BM-TCGA | chr17 | 7579521 | 7579521 | g.chr17:7579521C>A | chr17:7579521-7579521 | c.166G>T | c.(166-168)Gaa>Taa | p.E56* | Nonsense_Mutation | SNP | C | A | | TCGA-H7-8501-01A-11D | ENST00000269305.4 | - | 4 | 355 | TCGA |
tcga25749 | TP53 | 7157 | BM-TCGA | chr17 | 7577090 | 7577090 | g.chr17:7577090C>G | chr17:7577090-7577090 | c.848G>C | c.(847-849)cGc>cCc | p.R283P | Missense_Mutation | SNP | C | G | rs371409680 | TCGA-P3-A6T2-01A-11D | ENST00000269305.4 | - | 8 | 1037 | TCGA |
tcga25750 | TP53 | 7157 | BM-TCGA | chr17 | 7577506 | 7577506 | g.chr17:7577506C>T | chr17:7577506-7577506 | c.775G>A | c.(775-777)Gac>Aac | p.D259N | Missense_Mutation | SNP | C | T | | TCGA-P3-A6T2-01A-11D | ENST00000269305.4 | - | 7 | 964 | TCGA |
tcga25850 | TP53 | 7157 | BM-TCGA | chr17 | 7577085 | 7577085 | g.chr17:7577085C>A | chr17:7577085-7577085 | c.853G>T | c.(853-855)Gag>Tag | p.E285* | Nonsense_Mutation | SNP | C | A | rs112431538 | TCGA-QK-A6IG-01A-11D | ENST00000269305.4 | - | 8 | 1042 | TCGA |
tcga26031 | TP53 | 7157 | BM-TCGA | chr17 | 7578406 | 7578406 | g.chr17:7578406C>T | chr17:7578406-7578406 | c.524G>A | c.(523-525)cGc>cAc | p.R175H | Missense_Mutation | SNP | C | T | rs28934578 | TCGA-UF-A7JA-01A-12D | ENST00000269305.4 | - | 5 | 713 | TCGA |
tcga26032 | TP53 | 7157 | BM-TCGA | chr17 | 7579485 | 7579485 | g.chr17:7579485C>A | chr17:7579485-7579485 | c.202G>T | c.(202-204)Gag>Tag | p.E68* | Nonsense_Mutation | SNP | C | A | | TCGA-UF-A7JA-01A-12D | ENST00000269305.4 | - | 4 | 391 | TCGA |
tcga26265 | TP53 | 7157 | BM-TCGA | chr17 | 7578212 | 7578212 | g.chr17:7578212G>A | chr17:7578212-7578212 | c.637C>T | c.(637-639)Cga>Tga | p.R213* | Nonsense_Mutation | SNP | G | A | rs397516436 | TCGA-UF-A7JD-01A-11D | ENST00000269305.4 | - | 6 | 826 | TCGA |
tcga26656 | TP53 | 7157 | OC-TCGA | chr17 | 7578402 | 7578402 | g.chr17:7578402G>A | chr17:7578402-7578402 | c.528C>T | c.(526-528)tgC>tgT | p.C176C | Silent | SNP | G | A | | TCGA-BB-A5HU-01A-11D | ENST00000269305.4 | - | 5 | 717 | TCGA |
tcga26657 | TP53 | 7157 | OC-TCGA | chr17 | 7578403 | 7578403 | g.chr17:7578403C>T | chr17:7578403-7578403 | c.527G>A | c.(526-528)tGc>tAc | p.C176Y | Missense_Mutation | SNP | C | T | | TCGA-BB-A5HU-01A-11D | ENST00000269305.4 | - | 5 | 716 | TCGA |
tcga26852 | TP53 | 7157 | OC-TCGA | chr17 | 7577539 | 7577539 | g.chr17:7577539G>A | chr17:7577539-7577539 | c.742C>T | c.(742-744)Cgg>Tgg | p.R248W | Missense_Mutation | SNP | G | A | rs397516437|rs121912651 | TCGA-BB-A5HZ-01A-21D | ENST00000269305.4 | - | 7 | 931 | TCGA |
tcga26853 | TP53 | 7157 | OC-TCGA | chr17 | 7578392 | 7578392 | g.chr17:7578392C>T | chr17:7578392-7578392 | c.538G>A | c.(538-540)Gag>Aag | p.E180K | Missense_Mutation | SNP | C | T | | TCGA-BB-A5HZ-01A-21D | ENST00000269305.4 | - | 5 | 727 | TCGA |
tcga26956 | TP53 | 7157 | OC-TCGA | chr17 | 7579514 | 7579514 | g.chr17:7579514delG | chr17:7579514-7579514 | c.173delC | c.(172-174)ccafs | p.P58fs | Frame_Shift_Del | DEL | G | - | rs144386518 | TCGA-CN-4728-01A-01D | ENST00000269305.4 | - | 4 | 362 | TCGA |
tcga27137 | TP53 | 7157 | OC-TCGA | chr17 | 7578394 | 7578394 | g.chr17:7578394T>C | chr17:7578394-7578394 | c.536A>G | c.(535-537)cAt>cGt | p.H179R | Missense_Mutation | SNP | T | C | | TCGA-CN-4729-01A-01D | ENST00000269305.4 | - | 5 | 725 | TCGA |
tcga27138 | TP53 | 7157 | OC-TCGA | chr17 | 7578461 | 7578461 | g.chr17:7578461C>A | chr17:7578461-7578461 | c.469G>T | c.(469-471)Gtc>Ttc | p.V157F | Missense_Mutation | SNP | C | A | rs121912654 | TCGA-CN-4729-01A-01D | ENST00000269305.4 | - | 5 | 658 | TCGA |
tcga27329 | TP53 | 7157 | OC-TCGA | chr17 | 7578524 | 7578524 | g.chr17:7578524G>A | chr17:7578524-7578524 | c.406C>T | c.(406-408)Caa>Taa | p.Q136* | Nonsense_Mutation | SNP | G | A | | TCGA-CN-4740-01A-01D | ENST00000269305.4 | - | 5 | 595 | TCGA |
tcga27330 | TP53 | 7157 | OC-TCGA | chr17 | 7579591 | 7579591 | g.chr17:7579591C>T | chr17:7579591-7579591 | | - | | Splice_Site | SNP | C | T | | TCGA-CN-4740-01A-01D | ENST00000269305.4 | - | 4 | 286 | TCGA |
tcga27492 | TP53 | 7157 | OC-TCGA | chr17 | 7577539 | 7577539 | g.chr17:7577539G>A | chr17:7577539-7577539 | c.742C>T | c.(742-744)Cgg>Tgg | p.R248W | Missense_Mutation | SNP | G | A | rs397516437|rs121912651 | TCGA-CN-6018-01A-11D | ENST00000269305.4 | - | 7 | 931 | TCGA |
tcga27644 | TP53 | 7157 | OC-TCGA | chr17 | 7578177 | 7578177 | g.chr17:7578177C>A | chr17:7578177-7578177 | c.672G>T | c.(670-672)gaG>gaT | p.E224D | Splice_Site | SNP | C | A | rs267605076 | TCGA-CN-6020-01A-11D | ENST00000269305.4 | - | 6 | 861 | TCGA |
tcga27822 | TP53 | 7157 | OC-TCGA | chr17 | 7577090 | 7577090 | g.chr17:7577090C>G | chr17:7577090-7577090 | c.848G>C | c.(847-849)cGc>cCc | p.R283P | Missense_Mutation | SNP | C | G | rs371409680 | TCGA-CN-6994-01A-11D | ENST00000269305.4 | - | 8 | 1037 | TCGA |
tcga27823 | TP53 | 7157 | OC-TCGA | chr17 | 7578406 | 7578406 | g.chr17:7578406C>T | chr17:7578406-7578406 | c.524G>A | c.(523-525)cGc>cAc | p.R175H | Missense_Mutation | SNP | C | T | rs28934578 | TCGA-CN-6994-01A-11D | ENST00000269305.4 | - | 5 | 713 | TCGA |
tcga28631 | TP53 | 7157 | OC-TCGA | chr17 | 7572959 | 7572962 | g.chr17:7572959_7572962delTGAG | chr17:7572959-7572962 | c.1147_1150delCTCA | c.(1147-1152)ctcatgfs | p.LM383fs | Frame_Shift_Del | DEL | TGAG | - | rs150842067|rs373710656 | TCGA-CQ-A4CD-01A-21D | ENST00000269305.4 | - | 11 | 1336_1339 | TCGA |
tcga28632 | TP53 | 7157 | OC-TCGA | chr17 | 7578524 | 7578524 | g.chr17:7578524G>C | chr17:7578524-7578524 | c.406C>G | c.(406-408)Caa>Gaa | p.Q136E | Missense_Mutation | SNP | G | C | | TCGA-CQ-A4CD-01A-21D | ENST00000269305.4 | - | 5 | 595 | TCGA |
tcga29035 | TP53 | 7157 | OC-TCGA | chr17 | 7578263 | 7578263 | g.chr17:7578263G>A | chr17:7578263-7578263 | c.586C>T | c.(586-588)Cga>Tga | p.R196* | Nonsense_Mutation | SNP | G | A | rs397516435 | TCGA-CR-6484-01A-11D | ENST00000269305.4 | - | 6 | 775 | TCGA |
tcga29316 | TP53 | 7157 | OC-TCGA | chr17 | 7578203 | 7578203 | g.chr17:7578203C>T | chr17:7578203-7578203 | c.646G>A | c.(646-648)Gtg>Atg | p.V216M | Missense_Mutation | SNP | C | T | | TCGA-CR-7365-01A-11D | ENST00000269305.4 | - | 6 | 835 | TCGA |
tcga29758 | TP53 | 7157 | OC-TCGA | chr17 | 7577538 | 7577538 | g.chr17:7577538C>T | chr17:7577538-7577538 | c.743G>A | c.(742-744)cGg>cAg | p.R248Q | Missense_Mutation | SNP | C | T | rs11540652 | TCGA-CR-7368-01A-11D | ENST00000269305.4 | - | 7 | 932 | TCGA |
tcga30102 | TP53 | 7157 | OC-TCGA | chr17 | 7577139 | 7577139 | g.chr17:7577139G>C | chr17:7577139-7577139 | c.799C>G | c.(799-801)Cgg>Ggg | p.R267G | Missense_Mutation | SNP | G | C | rs55832599 | TCGA-CR-7373-01A-11D | ENST00000269305.4 | - | 8 | 988 | TCGA |
tcga30219 | TP53 | 7157 | OC-TCGA | chr17 | 7577098 | 7577098 | g.chr17:7577098T>G | chr17:7577098-7577098 | c.840A>C | c.(838-840)agA>agC | p.R280S | Missense_Mutation | SNP | T | G | | TCGA-CR-7376-01A-11D | ENST00000269305.4 | - | 8 | 1029 | TCGA |
tcga30220 | TP53 | 7157 | OC-TCGA | chr17 | 7579698 | 7579699 | g.chr17:7579698_7579699insCC | chr17:7579698-7579699 | | - | | Splice_Site | INS | - | CC | | TCGA-CR-7376-01A-11D | ENST00000269305.4 | - | 3 | 286 | TCGA |
tcga30313 | TP53 | 7157 | OC-TCGA | chr17 | 7577022 | 7577022 | g.chr17:7577022G>A | chr17:7577022-7577022 | c.916C>T | c.(916-918)Cga>Tga | p.R306* | Nonsense_Mutation | SNP | G | A | rs121913344 | TCGA-CR-7377-01A-11D | ENST00000269305.4 | - | 8 | 1105 | TCGA |
tcga30496 | TP53 | 7157 | OC-TCGA | chr17 | 7577153 | 7577153 | g.chr17:7577153C>A | chr17:7577153-7577153 | c.785G>T | c.(784-786)gGt>gTt | p.G262V | Missense_Mutation | SNP | C | A | | TCGA-CR-7379-01A-11D | ENST00000269305.4 | - | 8 | 974 | TCGA |
tcga30497 | TP53 | 7157 | OC-TCGA | chr17 | 7578522 | 7578522 | g.chr17:7578522T>A | chr17:7578522-7578522 | c.408A>T | c.(406-408)caA>caT | p.Q136H | Missense_Mutation | SNP | T | A | | TCGA-CR-7379-01A-11D | ENST00000269305.4 | - | 5 | 597 | TCGA |
tcga30652 | TP53 | 7157 | OC-TCGA | chr17 | 7577094 | 7577094 | g.chr17:7577094G>A | chr17:7577094-7577094 | c.844C>T | c.(844-846)Cgg>Tgg | p.R282W | Missense_Mutation | SNP | G | A | rs28934574 | TCGA-CR-7380-01A-11D | ENST00000269305.4 | - | 8 | 1033 | TCGA |
tcga30805 | TP53 | 7157 | OC-TCGA | chr17 | 7578217 | 7578218 | g.chr17:7578217_7578218delGT | chr17:7578217-7578218 | c.631_632delAC | c.(631-633)actfs | p.T211fs | Frame_Shift_Del | DEL | GT | - | | TCGA-CR-7386-01A-11D | ENST00000269305.4 | - | 6 | 820_821 | TCGA |
tcga31234 | TP53 | 7157 | OC-TCGA | chr17 | 7578479 | 7578479 | g.chr17:7578479G>T | chr17:7578479-7578479 | c.451C>A | c.(451-453)Ccc>Acc | p.P151T | Missense_Mutation | SNP | G | T | rs28934874|rs137852790|rs137852791 | TCGA-CV-5966-01A-11D | ENST00000269305.4 | - | 5 | 640 | TCGA |
tcga31377 | TP53 | 7157 | OC-TCGA | chr17 | 7578479 | 7578479 | g.chr17:7578479G>T | chr17:7578479-7578479 | c.451C>A | c.(451-453)Ccc>Acc | p.P151T | Missense_Mutation | SNP | G | T | rs28934874|rs137852790|rs137852791 | TCGA-CV-5966-01A-11D | ENST00000269305.4 | - | 5 | 640 | TCGA |
tcga31532 | TP53 | 7157 | OC-TCGA | chr17 | 7578232 | 7578232 | g.chr17:7578232delA | chr17:7578232-7578232 | c.617delT | c.(616-618)ttgfs | p.L206fs | Frame_Shift_Del | DEL | A | - | | TCGA-CV-6937-01A-11D | ENST00000269305.4 | - | 6 | 806 | TCGA |
tcga32109 | TP53 | 7157 | OC-TCGA | chr17 | 7576855 | 7576855 | g.chr17:7576855G>A | chr17:7576855-7576855 | c.991C>T | c.(991-993)Cag>Tag | p.Q331* | Nonsense_Mutation | SNP | G | A | | TCGA-CV-6942-01A-21D | ENST00000269305.4 | - | 9 | 1180 | TCGA |
tcga32110 | TP53 | 7157 | OC-TCGA | chr17 | 7578212 | 7578212 | g.chr17:7578212G>A | chr17:7578212-7578212 | c.637C>T | c.(637-639)Cga>Tga | p.R213* | Nonsense_Mutation | SNP | G | A | rs397516436 | TCGA-CV-6942-01A-21D | ENST00000269305.4 | - | 6 | 826 | TCGA |
tcga32631 | TP53 | 7157 | OC-TCGA | chr17 | 7577142 | 7577142 | g.chr17:7577142C>A | chr17:7577142-7577142 | c.796G>T | c.(796-798)Gga>Tga | p.G266* | Nonsense_Mutation | SNP | C | A | | TCGA-CV-6960-01A-41D | ENST00000269305.4 | - | 8 | 985 | TCGA |
tcga32632 | TP53 | 7157 | OC-TCGA | chr17 | 7577143 | 7577143 | g.chr17:7577143C>A | chr17:7577143-7577143 | c.795G>T | c.(793-795)ctG>ctT | p.L265L | Silent | SNP | C | A | | TCGA-CV-6960-01A-41D | ENST00000269305.4 | - | 8 | 984 | TCGA |
tcga32859 | TP53 | 7157 | OC-TCGA | chr17 | 7577142 | 7577142 | g.chr17:7577142C>A | chr17:7577142-7577142 | c.796G>T | c.(796-798)Gga>Tga | p.G266* | Nonsense_Mutation | SNP | C | A | | TCGA-CV-6960-01A-41D | ENST00000269305.4 | - | 8 | 985 | TCGA |
tcga32860 | TP53 | 7157 | OC-TCGA | chr17 | 7577143 | 7577143 | g.chr17:7577143C>A | chr17:7577143-7577143 | c.795G>T | c.(793-795)ctG>ctT | p.L265L | Silent | SNP | C | A | | TCGA-CV-6960-01A-41D | ENST00000269305.4 | - | 8 | 984 | TCGA |
tcga33055 | TP53 | 7157 | OC-TCGA | chr17 | 7577120 | 7577120 | g.chr17:7577120C>T | chr17:7577120-7577120 | c.818G>A | c.(817-819)cGt>cAt | p.R273H | Missense_Mutation | SNP | C | T | rs28934576 | TCGA-CV-7090-01A-11D | ENST00000269305.4 | - | 8 | 1007 | TCGA |
tcga33184 | TP53 | 7157 | OC-TCGA | chr17 | 7579718 | 7579718 | g.chr17:7579718delA | chr17:7579718-7579718 | c.78delT | c.(76-78)cttfs | p.L26fs | Frame_Shift_Del | DEL | A | - | rs397516438 | TCGA-CV-7091-01A-11D | ENST00000269305.4 | - | 3 | 267 | TCGA |
tcga33391 | TP53 | 7157 | OC-TCGA | chr17 | 7579718 | 7579718 | g.chr17:7579718delA | chr17:7579718-7579718 | c.78delT | c.(76-78)cttfs | p.L26fs | Frame_Shift_Del | DEL | A | - | rs397516438 | TCGA-CV-7091-01A-11D | ENST00000269305.4 | - | 3 | 267 | TCGA |
tcga33642 | TP53 | 7157 | OC-TCGA | chr17 | 7578263 | 7578263 | g.chr17:7578263G>A | chr17:7578263-7578263 | c.586C>T | c.(586-588)Cga>Tga | p.R196* | Nonsense_Mutation | SNP | G | A | rs397516435 | TCGA-CV-7095-01A-21D | ENST00000269305.4 | - | 6 | 775 | TCGA |
tcga33937 | TP53 | 7157 | OC-TCGA | chr17 | 7578263 | 7578263 | g.chr17:7578263G>A | chr17:7578263-7578263 | c.586C>T | c.(586-588)Cga>Tga | p.R196* | Nonsense_Mutation | SNP | G | A | rs397516435 | TCGA-CV-7095-01A-21D | ENST00000269305.4 | - | 6 | 775 | TCGA |
tcga34539 | TP53 | 7157 | OC-TCGA | chr17 | 7577085 | 7577085 | g.chr17:7577085C>T | chr17:7577085-7577085 | c.853G>A | c.(853-855)Gag>Aag | p.E285K | Missense_Mutation | SNP | C | T | rs112431538 | TCGA-CV-7099-01A-41D | ENST00000269305.4 | - | 8 | 1042 | TCGA |
tcga34915 | TP53 | 7157 | OC-TCGA | chr17 | 7577120 | 7577137 | g.chr17:7577120_7577137delCGCACCTCAAAGCTGTTC | chr17:7577120-7577137 | c.801_818delGAACAGCTTTGAGGTGCG | c.(799-819)cggaacagctttgaggtgc | p.267_273RNSFEVR>R | In_Frame_Del | DEL | CGCACCTCAAAGCTGTTC | - | rs121912657|rs28934576|rs121913343 | TCGA-CV-7178-01A-21D | ENST00000269305.4 | - | 8 | 990_1007 | TCGA |
tcga35073 | TP53 | 7157 | OC-TCGA | chr17 | 7577120 | 7577137 | g.chr17:7577120_7577137delCGCACCTCAAAGCTGTTC | chr17:7577120-7577137 | c.801_818delGAACAGCTTTGAGGTGCG | c.(799-819)cggaacagctttgaggtgc | p.267_273RNSFEVR>R | In_Frame_Del | DEL | CGCACCTCAAAGCTGTTC | - | rs121912657|rs28934576|rs121913343 | TCGA-CV-7178-01A-21D | ENST00000269305.4 | - | 8 | 990_1007 | TCGA |
tcga35442 | TP53 | 7157 | OC-TCGA | chr17 | 7578267 | 7578268 | g.chr17:7578267_7578268insAG | chr17:7578267-7578268 | c.581_582insCT | c.(580-582)cttfs | p.L194fs | Frame_Shift_Ins | INS | - | AG | rs370216745 | TCGA-CV-7252-01A-11D | ENST00000269305.4 | - | 6 | 770_771 | TCGA |
tcga35443 | TP53 | 7157 | OC-TCGA | chr17 | 7579533 | 7579533 | g.chr17:7579533G>A | chr17:7579533-7579533 | c.154C>T | c.(154-156)Caa>Taa | p.Q52* | Nonsense_Mutation | SNP | G | A | | TCGA-CV-7252-01A-11D | ENST00000269305.4 | - | 4 | 343 | TCGA |
tcga35780 | TP53 | 7157 | OC-TCGA | chr17 | 7578267 | 7578268 | g.chr17:7578267_7578268insAG | chr17:7578267-7578268 | c.581_582insCT | c.(580-582)cttfs | p.L194fs | Frame_Shift_Ins | INS | - | AG | rs370216745 | TCGA-CV-7252-01A-11D | ENST00000269305.4 | - | 6 | 770_771 | TCGA |
tcga35781 | TP53 | 7157 | OC-TCGA | chr17 | 7579533 | 7579533 | g.chr17:7579533G>A | chr17:7579533-7579533 | c.154C>T | c.(154-156)Caa>Taa | p.Q52* | Nonsense_Mutation | SNP | G | A | | TCGA-CV-7252-01A-11D | ENST00000269305.4 | - | 4 | 343 | TCGA |
tcga36070 | TP53 | 7157 | OC-TCGA | chr17 | 7577126 | 7577126 | g.chr17:7577126T>A | chr17:7577126-7577126 | c.812A>T | c.(811-813)gAg>gTg | p.E271V | Missense_Mutation | SNP | T | A | | TCGA-CV-7253-01A-11D | ENST00000269305.4 | - | 8 | 1001 | TCGA |
tcga36351 | TP53 | 7157 | OC-TCGA | chr17 | 7577508 | 7577508 | g.chr17:7577508T>G | chr17:7577508-7577508 | c.773A>C | c.(772-774)gAa>gCa | p.E258A | Missense_Mutation | SNP | T | G | | TCGA-CV-7254-01A-11D | ENST00000269305.4 | - | 7 | 962 | TCGA |
tcga36632 | TP53 | 7157 | OC-TCGA | chr17 | 7579378 | 7579378 | g.chr17:7579378G>C | chr17:7579378-7579378 | c.309C>G | c.(307-309)taC>taG | p.Y103* | Nonsense_Mutation | SNP | G | C | | TCGA-CV-7263-01A-11D | ENST00000269305.4 | - | 4 | 498 | TCGA |
tcga36800 | TP53 | 7157 | OC-TCGA | chr17 | 7579378 | 7579378 | g.chr17:7579378G>C | chr17:7579378-7579378 | c.309C>G | c.(307-309)taC>taG | p.Y103* | Nonsense_Mutation | SNP | G | C | | TCGA-CV-7263-01A-11D | ENST00000269305.4 | - | 4 | 498 | TCGA |
tcga37101 | TP53 | 7157 | OC-TCGA | chr17 | 7579374 | 7579374 | g.chr17:7579374C>A | chr17:7579374-7579374 | c.313G>T | c.(313-315)Ggc>Tgc | p.G105C | Missense_Mutation | SNP | C | A | | TCGA-CV-7413-01A-11D | ENST00000269305.4 | - | 4 | 502 | TCGA |
tcga37194 | TP53 | 7157 | OC-TCGA | chr17 | 7579374 | 7579374 | g.chr17:7579374C>A | chr17:7579374-7579374 | c.313G>T | c.(313-315)Ggc>Tgc | p.G105C | Missense_Mutation | SNP | C | A | | TCGA-CV-7413-01A-11D | ENST00000269305.4 | - | 4 | 502 | TCGA |
tcga37377 | TP53 | 7157 | OC-TCGA | chr17 | 7577085 | 7577085 | g.chr17:7577085C>T | chr17:7577085-7577085 | c.853G>A | c.(853-855)Gag>Aag | p.E285K | Missense_Mutation | SNP | C | T | rs112431538 | TCGA-CV-7414-01A-11D | ENST00000269305.4 | - | 8 | 1042 | TCGA |
tcga37623 | TP53 | 7157 | OC-TCGA | chr17 | 7578406 | 7578406 | g.chr17:7578406C>T | chr17:7578406-7578406 | c.524G>A | c.(523-525)cGc>cAc | p.R175H | Missense_Mutation | SNP | C | T | rs28934578 | TCGA-CV-7416-01A-11D | ENST00000269305.4 | - | 5 | 713 | TCGA |
tcga37722 | TP53 | 7157 | OC-TCGA | chr17 | 7578406 | 7578406 | g.chr17:7578406C>T | chr17:7578406-7578406 | c.524G>A | c.(523-525)cGc>cAc | p.R175H | Missense_Mutation | SNP | C | T | rs28934578 | TCGA-CV-7416-01A-11D | ENST00000269305.4 | - | 5 | 713 | TCGA |
tcga37814 | TP53 | 7157 | OC-TCGA | chr17 | 7574012 | 7574012 | g.chr17:7574012C>A | chr17:7574012-7574012 | c.1015G>T | c.(1015-1017)Gag>Tag | p.E339* | Nonsense_Mutation | SNP | C | A | rs17882252 | TCGA-CV-7423-01A-11D | ENST00000269305.4 | - | 10 | 1204 | TCGA |
tcga37913 | TP53 | 7157 | OC-TCGA | chr17 | 7574012 | 7574012 | g.chr17:7574012C>A | chr17:7574012-7574012 | c.1015G>T | c.(1015-1017)Gag>Tag | p.E339* | Nonsense_Mutation | SNP | C | A | rs17882252 | TCGA-CV-7423-01A-11D | ENST00000269305.4 | - | 10 | 1204 | TCGA |
tcga38870 | TP53 | 7157 | OC-TCGA | chr17 | 7577554 | 7577564 | g.chr17:7577554_7577564delTGCAGGAACTG | chr17:7577554-7577564 | c.717_727delCAGTTCCTGCA | c.(715-729)aacagttcctgcatgfs | p.SSCM240fs | Frame_Shift_Del | DEL | TGCAGGAACTG | - | rs121912655|rs397516437|rs28934573|rs375874539 | TCGA-CV-7432-01A-11D | ENST00000269305.4 | - | 7 | 906_916 | TCGA |
tcga38871 | TP53 | 7157 | OC-TCGA | chr17 | 7579312 | 7579312 | g.chr17:7579312C>A | chr17:7579312-7579312 | c.375G>T | c.(373-375)acG>acT | p.T125T | Splice_Site | SNP | C | A | rs55863639 | TCGA-CV-7432-01A-11D | ENST00000269305.4 | - | 4 | 564 | TCGA |
tcga39073 | TP53 | 7157 | OC-TCGA | chr17 | 7577554 | 7577564 | g.chr17:7577554_7577564delTGCAGGAACTG | chr17:7577554-7577564 | c.717_727delCAGTTCCTGCA | c.(715-729)aacagttcctgcatgfs | p.SSCM240fs | Frame_Shift_Del | DEL | TGCAGGAACTG | - | rs121912655|rs397516437|rs28934573|rs375874539 | TCGA-CV-7432-01A-11D | ENST00000269305.4 | - | 7 | 906_916 | TCGA |
tcga39074 | TP53 | 7157 | OC-TCGA | chr17 | 7579312 | 7579312 | g.chr17:7579312C>A | chr17:7579312-7579312 | c.375G>T | c.(373-375)acG>acT | p.T125T | Splice_Site | SNP | C | A | rs55863639 | TCGA-CV-7432-01A-11D | ENST00000269305.4 | - | 4 | 564 | TCGA |
tcga39262 | TP53 | 7157 | OC-TCGA | chr17 | 7578527 | 7578527 | g.chr17:7578527delA | chr17:7578527-7578527 | c.403delT | c.(403-405)tgcfs | p.C135fs | Frame_Shift_Del | DEL | A | - | | TCGA-CV-7434-01A-11D | ENST00000269305.4 | - | 5 | 592 | TCGA |
tcga39387 | TP53 | 7157 | OC-TCGA | chr17 | 7578527 | 7578527 | g.chr17:7578527delA | chr17:7578527-7578527 | c.403delT | c.(403-405)tgcfs | p.C135fs | Frame_Shift_Del | DEL | A | - | | TCGA-CV-7434-01A-11D | ENST00000269305.4 | - | 5 | 592 | TCGA |
tcga39510 | TP53 | 7157 | OC-TCGA | chr17 | 7578190 | 7578190 | g.chr17:7578190T>C | chr17:7578190-7578190 | c.659A>G | c.(658-660)tAt>tGt | p.Y220C | Missense_Mutation | SNP | T | C | rs121912666 | TCGA-CV-7435-01A-11D | ENST00000269305.4 | - | 6 | 848 | TCGA |
tcga39615 | TP53 | 7157 | OC-TCGA | chr17 | 7578190 | 7578190 | g.chr17:7578190T>C | chr17:7578190-7578190 | c.659A>G | c.(658-660)tAt>tGt | p.Y220C | Missense_Mutation | SNP | T | C | rs121912666 | TCGA-CV-7435-01A-11D | ENST00000269305.4 | - | 6 | 848 | TCGA |
tcga40698 | TP53 | 7157 | OC-TCGA | chr17 | 7577106 | 7577106 | g.chr17:7577106G>A | chr17:7577106-7577106 | c.832C>T | c.(832-834)Cct>Tct | p.P278S | Missense_Mutation | SNP | G | A | rs17849781 | TCGA-CV-7568-01A-11D | ENST00000269305.4 | - | 8 | 1021 | TCGA |
tcga42968 | TP53 | 7157 | OC-TCGA | chr17 | 7579722 | 7579722 | g.chr17:7579722C>G | chr17:7579722-7579722 | | - | | Splice_Site | SNP | C | G | | TCGA-CV-A45Q-01A-11D | ENST00000269305.4 | - | 3 | 264 | TCGA |
tcga43305 | TP53 | 7157 | OC-TCGA | chr17 | 7577046 | 7577046 | g.chr17:7577046C>A | chr17:7577046-7577046 | c.892G>T | c.(892-894)Gag>Tag | p.E298* | Nonsense_Mutation | SNP | C | A | rs201744589 | TCGA-CV-A45U-01A-12D | ENST00000269305.4 | - | 8 | 1081 | TCGA |
tcga43686 | TP53 | 7157 | OC-TCGA | chr17 | 7577098 | 7577098 | g.chr17:7577098T>A | chr17:7577098-7577098 | c.840A>T | c.(838-840)agA>agT | p.R280S | Missense_Mutation | SNP | T | A | | TCGA-CV-A6JE-01A-11D | ENST00000269305.4 | - | 8 | 1029 | TCGA |
tcga43687 | TP53 | 7157 | OC-TCGA | chr17 | 7578190 | 7578190 | g.chr17:7578190T>C | chr17:7578190-7578190 | c.659A>G | c.(658-660)tAt>tGt | p.Y220C | Missense_Mutation | SNP | T | C | rs121912666 | TCGA-CV-A6JE-01A-11D | ENST00000269305.4 | - | 6 | 848 | TCGA |
tcga43828 | TP53 | 7157 | OC-TCGA | chr17 | 7578519 | 7578522 | g.chr17:7578519_7578522delCAGT | chr17:7578519-7578522 | c.408_411delACTG | c.(406-411)caactgfs | p.QL136fs | Frame_Shift_Del | DEL | CAGT | - | | TCGA-CV-A6JN-01A-11D | ENST00000269305.4 | - | 5 | 597_600 | TCGA |
tcga43936 | TP53 | 7157 | OC-TCGA | chr17 | 7578495 | 7578496 | g.chr17:7578495_7578496insA | chr17:7578495-7578496 | c.434_435insT | c.(433-435)ctgfs | p.L145fs | Frame_Shift_Ins | INS | - | A | rs587782197 | TCGA-CV-A6JY-01A-11D | ENST00000269305.4 | - | 5 | 623_624 | TCGA |
tcga44055 | TP53 | 7157 | OC-TCGA | chr17 | 7578403 | 7578403 | g.chr17:7578403C>A | chr17:7578403-7578403 | c.527G>T | c.(526-528)tGc>tTc | p.C176F | Missense_Mutation | SNP | C | A | | TCGA-CV-A6JZ-01A-11D | ENST00000269305.4 | - | 5 | 716 | TCGA |
tcga44437 | TP53 | 7157 | OC-TCGA | chr17 | 7577543 | 7577543 | g.chr17:7577543C>G | chr17:7577543-7577543 | c.738G>C | c.(736-738)atG>atC | p.M246I | Missense_Mutation | SNP | C | G | rs397516437 | TCGA-CV-A6K2-01A-11D | ENST00000269305.4 | - | 7 | 927 | TCGA |
tcga45064 | TP53 | 7157 | OC-TCGA | chr17 | 7578212 | 7578212 | g.chr17:7578212G>A | chr17:7578212-7578212 | c.637C>T | c.(637-639)Cga>Tga | p.R213* | Nonsense_Mutation | SNP | G | A | rs397516436 | TCGA-CX-7082-01A-11D | ENST00000269305.4 | - | 6 | 826 | TCGA |
tcga45431 | TP53 | 7157 | OC-TCGA | chr17 | 7573984 | 7573984 | g.chr17:7573984A>G | chr17:7573984-7573984 | c.1043T>C | c.(1042-1044)tTg>tCg | p.L348S | Missense_Mutation | SNP | A | G | | TCGA-HD-A633-01A-11D | ENST00000269305.4 | - | 10 | 1232 | TCGA |
tcga45432 | TP53 | 7157 | OC-TCGA | chr17 | 7577503 | 7577504 | g.chr17:7577503_7577504delAG | chr17:7577503-7577504 | c.777_778delCT | c.(775-780)gactccfs | p.S261fs | Frame_Shift_Del | DEL | AG | T | | TCGA-HD-A633-01A-11D | ENST00000269305.4 | - | 7 | 966_967 | TCGA |
tcga46056 | TP53 | 7157 | OC-TCGA | chr17 | 7577022 | 7577022 | g.chr17:7577022G>A | chr17:7577022-7577022 | c.916C>T | c.(916-918)Cga>Tga | p.R306* | Nonsense_Mutation | SNP | G | A | rs121913344 | TCGA-P3-A6T3-01A-11D | ENST00000269305.4 | - | 8 | 1105 | TCGA |
tcga46057 | TP53 | 7157 | OC-TCGA | chr17 | 7577548 | 7577548 | g.chr17:7577548C>T | chr17:7577548-7577548 | c.733G>A | c.(733-735)Ggc>Agc | p.G245S | Missense_Mutation | SNP | C | T | rs28934575|rs397516437 | TCGA-P3-A6T3-01A-11D | ENST00000269305.4 | - | 7 | 922 | TCGA |
tcga46227 | TP53 | 7157 | OC-TCGA | chr17 | 7577094 | 7577094 | g.chr17:7577094G>A | chr17:7577094-7577094 | c.844C>T | c.(844-846)Cgg>Tgg | p.R282W | Missense_Mutation | SNP | G | A | rs28934574 | TCGA-RS-A6TO-01A-32D | ENST00000269305.4 | - | 8 | 1033 | TCGA |
tcga46228 | TP53 | 7157 | OC-TCGA | chr17 | 7578275 | 7578275 | g.chr17:7578275G>A | chr17:7578275-7578275 | c.574C>T | c.(574-576)Cag>Tag | p.Q192* | Nonsense_Mutation | SNP | G | A | | TCGA-RS-A6TO-01A-32D | ENST00000269305.4 | - | 6 | 763 | TCGA |