Predicted mutation | ||||||
---|---|---|---|---|---|---|
evidence | seq id | position | mutation | annotation | gene | description |
MC JC | NC_000913_3_hsa_tpiA | 257,908 | Δ776 bp | [crl] | [crl] |
Missing coverage evidence... | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|
seq id | start | end | size | ←reads | reads→ | gene | description | |||
* | * | ÷ | NC_000913_3_hsa_tpiA | 257908 | 258683 | 776 | 61 [0] | [1] 62 | [crl] | [crl] |
New junction evidence | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
seq id | position | reads (cov) | reads (cov) | score | skew | freq | annotation | gene | product | ||
* | ? | NC_000913_3_hsa_tpiA | = 257907 | 0 (0.000) | 58 (0.910) | 49/264 | 0.3 | 100% | intergenic (+8/‑769) | crl/crl | pseudogene, sigma factor‑binding protein, RNA polymerase holoenzyme formation stimulator;regulator; Surface structures; transcriptional regulator of cryptic csgA gene for curli surface fibers/pseudogene, sigma factor‑binding protein, RNA polymerase holoenzyme formation stimulator;regulator; Surface structures; transcriptional regulator of cryptic csgA gene for curli surface fibers |
? | NC_000913_3_hsa_tpiA | 258684 = | 0 (0.000) | pseudogene (9/331 nt) | crl | pseudogene, sigma factor‑binding protein, RNA polymerase holoenzyme formation stimulator;regulator; Surface structures; transcriptional regulator of cryptic csgA gene for curli surface fibers |
CTGATGTCCGGCGGTGCTTTTGCCGTTACGCACCACCCCGTCAGTAGCTGAACAGGAGGGACAGCTGATAGAAACAGAAGCCACTGGAGCACCTCAAAAACACCATCATACACTAAATCAGTAAGTTGGCAGCATCACCTGAAGGTAAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑CTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGTCTGTTC > NC_000913_3_hsa_tpiA/258537‑258832 | gcttgtgttaaaaatttgctaaattttgccaatttggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGt > 2:840861‑M2/148‑150 (MQ=255) ttaaaaatttgctaaattttgccaatttggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgaggggacacccgaagagcagattgatcaaagaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGa < 2:531673‑M2/10‑1 (MQ=255) taaattttgccaatttggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacacgaagagcagattgatcaaaaaatttaccgcactaggccggtatattggtgaaggtaAGTGAAAAGATAATAGATTCtt > 2:1102987‑M2/129‑150 (MQ=255) ttttgccaatttggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGAt > 2:856480‑M2/125‑142 (MQ=255) ttttgccaatttggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGAt < 1:856480‑M2/18‑1 (MQ=255) ttgccaatttggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGa < 1:324371‑M2/28‑1 (MQ=255) caatttggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGt > 1:1042202‑M2/119‑150 (MQ=255) taaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGt < 1:840861‑M2/40‑1 (MQ=255) aaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGt > 1:982449‑M2/110‑141 (MQ=255) aaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGt < 2:982449‑M2/32‑1 (MQ=255) aacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagaatgatcaaacaatttacctcactaggcccgtatattcgtgaaggtaAGTGCAAAGATATTCGCTTCTTTTTCGATTGTCTGCCtgtgtg > 1:216114‑M2/108‑150 (MQ=255) acagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGc > 1:643086‑M2/107‑150 (MQ=255) gcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAAc < 1:148957‑M2/50‑1 (MQ=255) atcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGt > 2:162439‑M2/99‑150 (MQ=255) atcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGt < 1:174175‑M2/52‑1 (MQ=255) tcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATACGTCAACGTg > 2:669083‑M2/98‑150 (MQ=255) acaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAAcc > 2:271157‑M2/93‑150 (MQ=255) gagctagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcacttggcccgtatatgcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCa < 1:218275‑M2/62‑1 (MQ=255) atagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCg > 1:481320‑M2/86‑150 (MQ=255) tgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGc > 2:348692‑M2/79‑150 (MQ=255) gacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCg < 1:205439‑M2/73‑1 (MQ=255) gacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCg < 2:481320‑M2/73‑1 (MQ=255) cgttaccgaggggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCTATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTg < 1:402302‑M2/75‑1 (MQ=255) ttaccgagtggacacccgaagagcagatttatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGaa < 1:1102987‑M2/77‑1 (MQ=255) gagtggacacgcgaagggtagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTg < 1:696838‑M2/82‑1 (MQ=255) gacacccgaagagaagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑Ct > 2:732278‑M2/64‑150 (MQ=255) acacccgaagagcagattaaaaaaaatagttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑Ctg < 2:1182392‑M2/88‑1 (MQ=255) cccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑Ctggtg < 2:643086‑M2/91‑1 (MQ=255) ccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGGGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑Ctggtgg < 1:1041081‑M2/92‑1 (MQ=255) ccgaagagcagattgaacaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTAt < 1:215750‑M2/42‑1 (MQ=255) ccgaagagcagattgaacaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTAt > 2:215750‑M2/59‑100 (MQ=255) gaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑CTGGgggat > 1:603184‑M2/57‑150 (MQ=255) aagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑CTGGtggatg < 1:162439‑M2/95‑1 (MQ=255) gagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑CTGGtggatgga > 1:543289‑M2/54‑150 (MQ=255) agcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑CTGGTGGATGGAg > 2:214685‑M2/53‑150 (MQ=255) agcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑CTGGTGGATGGAg < 1:416440‑M2/98‑1 (MQ=255) attgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑CTGGTGGATGGAGCTGGa > 1:1075225‑M2/48‑150 (MQ=255) ttgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑CTGGTGGTTGGAGCTGGaa > 1:449590‑M2/47‑150 (MQ=255) atcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGt < 1:627413‑M2/74‑1 (MQ=255) atcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGt > 2:627413‑M2/44‑117 (MQ=255) atcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑CTGGTGGATGGAGCTGGAAgcg > 1:68606‑M2/44‑150 (MQ=255) tcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGt < 2:795932‑M2/52‑1 (MQ=255) tcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGt > 1:795932‑M2/43‑94 (MQ=255) tcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACAGGAAGTGCGTGAATTATCCGG‑ATCGTGGATGGAGCTGGGAgcgc > 2:55789‑M2/43‑150 (MQ=255) caaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑CTGGTGGATGGAGCTGGAAGCGCa < 1:1107902‑M2/109‑1 (MQ=255) caaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑CTGGTGGATGGAGCTGGAAGCGCa < 2:1098850‑M2/109‑1 (MQ=255) aaaaaaatttaccgaattagtgcgttatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑CTGGTGGATGGAGCTGGAAGCGCa < 2:184698‑M2/109‑1 (MQ=255) aaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTTGGG‑CTGGTGGATGGACCTGGAAGCGCAg > 1:70771‑M2/41‑150 (MQ=255) aaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑CTGGTGGATGGAGCTGGAGGCGCAg > 2:986959‑M2/41‑150 (MQ=255) aaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑CTGGTGGATGGAGCTGGAAGCGCAg > 1:833049‑M2/41‑150 (MQ=255) aaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGGATGTCTGGCTGTATGCGTCAACGTGAAACCTGCACCGAAAGGGCGTGAATTCTGGGGCCGGGTGGA‑GGAGCTGGAAGCGCAgg > 2:218149‑M2/40‑150 (MQ=255) aaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGGTGTATGCGTCAACGTGAAACCGGAACCGGAAGTTCGTAAATTCTGGGG‑CTGGTGGATGGAGGtggacgctgagg > 2:418292‑M2/40‑145 (MQ=255) aaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑CTGGTGGATGGAGCTGGAAGCGCAGGa > 1:786766‑M2/39‑150 (MQ=255) ccggcctaggcccgtatatttgggaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGGGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑CTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGtt < 2:599456‑M2/120‑1 (MQ=255) cgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGTTTTTTTTGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑CTGGTGGATGGAGCTGCAAGCGCAGGAACCCCGttt > 2:965316‑M2/30‑150 (MQ=255) cactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCTATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGTAGTGCGTGAATTCTGGGG‑CTGGTTGGTGGAGCGGCAAGCGCaggaatccctctttc > 2:174089‑M2/28‑144 (MQ=255) atattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTTTTTTTTTTTTCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑CTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTAcc > 2:461756‑M2/16‑150 (MQ=255) cgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑CTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGttt < 1:271157‑M2/140‑1 (MQ=255) taGGTAAGTGCAAAGATAATCGATTCTTTATCGATGGTCTGGCTGTATGCCTCAACGTGAAACCGGCACCGGCAATGCGTGAACTCTGGGG‑CTGGTGGATGGAGCGGCAAGCGCAGGAATCCCGTTTTACCTCCAGTTACCAGTTTAGTc > 2:766210/2‑150 (MQ=255) aggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑CTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGTCt < 2:543289‑M2/145‑1 (MQ=255) gtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑CTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGTCTGt > 2:59328‑M2/4‑150 (MQ=255) aAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑CTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGTCTGTTc > 1:825607‑M2/2‑150 (MQ=255) | CTGATGTCCGGCGGTGCTTTTGCCGTTACGCACCACCCCGTCAGTAGCTGAACAGGAGGGACAGCTGATAGAAACAGAAGCCACTGGAGCACCTCAAAAACACCATCATACACTAAATCAGTAAGTTGGCAGCATCACCTGAAGGTAAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG‑CTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGTCTGTTC > NC_000913_3_hsa_tpiA/258537‑258832 |
Alignment Legend |
---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |
Reads not counted as support for junction |
read_name Not counted due to insufficient overlap past the breakpoint. |
read_name Not counted due to not crossing MOB target site duplication. |