Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
MC JC | NC_000913_3_hsa_tpiA | 257,908 | Δ776 bp | [crl] | [crl] |
Missing coverage evidence... | ||||||||||
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seq id | start | end | size | ←reads | reads→ | gene | description | |||
* | * | ÷ | NC_000913_3_hsa_tpiA | 257908–258675 | 258683 | 9–776 | 41 [0] | [0] 41 | [crl] | [crl] |
New junction evidence | |||||||||||
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seq id | position | reads (cov) | reads (cov) | score | skew | freq | annotation | gene | product | ||
* | ? | NC_000913_3_hsa_tpiA | = 257907 | 0 (0.000) | 35 (0.760) | 33/264 | 0.5 | 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 |
GTCCGGCGGTGCTTTTGCCGTTACGCACCACCCCGTCAGTAGCTGAACAGGAGGGACAGCTGATAGAAACAGAAGCCACTGGAGCACCTCAAAAACACCATCATACACTAAATCAGTAAGTTGGCAGCATCACCTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGTCTGTT > NC_000913_3_hsa_tpiA/258542‑258831 | tgttaaaaatttgctaaattttgccaatttggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCaa < 1:57889‑M2/7‑1 (MQ=255) aaaatttgctaaattttgccaatttggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATa > 2:94782‑M2/138‑149 (MQ=255) ttgctaaattttgtcaatatggaaaaacagttgcaacacaacaggagatgggaatgaagttgccgagcgtacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGa < 1:421432‑M2/17‑1 (MQ=255) tgccaatttggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGa < 1:220244‑M2/28‑1 (MQ=255) aatttggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggaaacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGGAAAG‑ATAATCGATTCTTTTTCGATTGt > 1:258823‑M2/118‑149 (MQ=255) atttggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTc < 1:353077‑M2/33‑1 (MQ=255) gtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCt < 2:280435‑M2/38‑1 (MQ=255) aaacagttgcatcacaacaggagatcgcattgacgtaacagggatggcacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGctgaa > 1:558841‑M2/109‑147 (MQ=255) aacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTAt < 1:45074‑M2/42‑1 (MQ=255) agtgttgcatcaaaacaggaaatagcaatgacgttaccgggtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGCTTCTTTTTCGATTGTCTGGCTGTATg < 1:856613‑M2/43‑1 (MQ=255) atcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACg > 1:192265‑M2/99‑149 (MQ=255) tcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATTCGTCAACGt < 1:77384‑M2/52‑1 (MQ=255) acaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAAc < 1:248438‑M2/57‑1 (MQ=255) ggtgctagcaatgacgttaccgagtggacacccgaagagcagattgataaaaacatttaccgcactaggcccgtatattcgtgaaggtaAATGCAACG‑ATACTCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCgg < 1:837206‑M2/60‑1 (MQ=255) aatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAg > 2:212460‑M2/81‑149 (MQ=255) cgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGAAAGTGCGTGAATTc > 2:851264‑M2/70‑149 (MQ=255) agtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTg < 1:113925‑M2/82‑1 (MQ=255) gacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCACCGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGc > 1:755372‑M2/64‑149 (MQ=255) agagcagattgatcaaaatatttaccgcgctaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCTCCGGAAGTGCGTGAATTCTGGGGCTGGtggatg < 1:438883‑M2/95‑1 (MQ=255) atcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCt > 2:455152‑M2/44‑124 (MQ=255) atcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATGGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCt < 1:455152‑M2/81‑1 (MQ=255) aaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCa < 1:471450‑M2/62‑1 (MQ=255) aaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCa > 2:471450‑M2/41‑102 (MQ=255) aaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCa > 1:551907‑M2/41‑149 (MQ=255) aaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAg < 2:558841‑M2/110‑1 (MQ=255) agttaccgcactaggcccgtatattcgggaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAAt < 1:300248‑M2/114‑1 (MQ=255) tttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATc > 1:802736‑M2/35‑149 (MQ=255) cgcactaggctcgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGtt < 1:596309‑M2/120‑1 (MQ=255) ctaggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTAc < 1:212460‑M2/124‑1 (MQ=255) ataggcctgcatattcggtaaggcaACTGCAAAG‑ACTATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTAc < 1:111853‑M2/124‑1 (MQ=255) taggcccgtatattcgtgaaggtaAGTGCCGAG‑GTCAATGGTTGTGTGTTGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGAAGGAATCCAGTTTTAcc < 2:614337‑M2/125‑1 (MQ=255) ggcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGTGTCGACGCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTa > 1:598352‑M2/23‑149 (MQ=255) gcccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTAc < 2:551907‑M2/128‑1 (MQ=255) ccgtatattcgtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAg > 1:118860‑M2/20‑149 (MQ=255) gtgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGttt > 2:99736‑M2/10‑149 (MQ=255) gaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTgggg < 2:388070‑M2/85‑1 (MQ=255) gaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTgggg > 1:388070‑M2/8‑92 (MQ=255) gaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTgg > 1:262647‑M2/8‑149 (MQ=255) aaggtaAGTGTAAAGCATAA‑CTATGCCTTGTAGAGTGTCTGGTTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGt < 2:258823‑M2/143‑1 (MQ=255) aaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGt < 2:262647‑M2/143‑1 (MQ=255) aAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGGCTGGCTGTATGCGTCAACGTGAACCCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGTCTGtt < 1:94782‑M2/148‑1 (MQ=255) | GTCCGGCGGTGCTTTTGCCGTTACGCACCACCCCGTCAGTAGCTGAACAGGAGGGACAGCTGATAGAAACAGAAGCCACTGGAGCACCTCAAAAACACCATCATACACTAAATCAGTAAGTTGGCAGCATCACCTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGTCTGTT > NC_000913_3_hsa_tpiA/258542‑258831 |
Alignment Legend |
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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: ‑ |