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 |
TCGAAAAACGCTTGTGTTAAAAATTTGCTAAATTTTGCCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTA‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑ > NC_000913_3_hsa_tpiA/257752‑257907 ‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑tgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGTCTGTT > NC_000913_3_hsa_tpiA/258684‑258831 TCGAAAAACGCTTGTGTTAAAAATTTGCTAAATTTTGCCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGT > 1:280435/1‑149 AAAAGCTTGTGTTAAAAATTTGCTAAATTTTGCCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGG < 1:516997/149‑1 TGTTAAAAATTTGCTAAATTTTGCCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCAA < 1:57889/149‑1 AAAATTTGCTAAATTTTGCCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATA > 2:94782/1‑149 TTGCTAAATTTTGTCAATATGGAAAAACAGTTGCAACACAACAGGAGATGGGAATGAAGTTGCCGAGCGTACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGA < 1:421432/149‑1 TGCCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGA < 1:220244/149‑1 AATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGAAACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGGAAAG‑ATAATCGATTCTTTTTCGATTGT > 1:258823/1‑149 ATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTC < 1:353077/149‑1 GTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCT < 2:280435/149‑1 AAACAGTTGCATCACAACAGGAGATCGCATTGACGTAACAGGGATGGCACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGaa > 1:558841/1‑147 AACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTAT < 1:45074/149‑1 agtGTTGCATCAAAACAGGAAATAGCAATGACGTTACCGGGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGCTTCTTTTTCGATTGTCTGGCTGTATG < 1:856613/146‑1 ATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACG > 1:192265/1‑149 TCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATTCGTCAACGT < 1:77384/149‑1 ACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAAC < 1:248438/149‑1 ggtgcTAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATAAAAACATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAATGCAACG‑ATACTCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGG < 1:837206/144‑1 AATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAG > 2:212460/1‑149 CGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGAAAGTGCGTGAATTC > 2:851264/1‑149 AGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTG < 1:113925/149‑1 GACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCACCGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGC > 1:755372/1‑149 AGAGCAGATTGATCAAAATATTTACCGCGCTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCTCCGGAAGTGCGTGAATTCTGGGGCTGGTGGATG < 1:438883/149‑1 ATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCT > 2:455152/1‑124 ATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATGGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCT < 1:455152/124‑1 AAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCA > 1:551907/1‑149 AAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCA < 1:471450/102‑1 AAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCA > 2:471450/1‑102 AAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAG < 2:558841/149‑1 agTTACCGCACTAGGCCCGTATATTCGGGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAAT < 1:300248/147‑1 TTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATC > 1:802736/1‑149 CGCACTAGGCTCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTT < 1:596309/149‑1 aTAGGCCTGCATATTCGGTAAGGCAACTGCAAAG‑ACTATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTAC < 1:111853/148‑1 CTAGGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTAC < 1:212460/149‑1 TAGGCCCGTATATTCGTGAAGGTAAGTGCCGAG‑GTCAATGGTTGTGTGTTGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGAAGGAATCCAGTTTTACC < 2:614337/149‑1 GGCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGTGTCGACGCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTA > 1:598352/1‑149 GCCCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTAC < 2:551907/149‑1 CCGTATATTCGTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAG > 1:118860/1‑149 GTGAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTT > 2:99736/1‑149 GAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGG > 1:262647/1‑149 GAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG < 2:388070/92‑1 GAAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG > 1:388070/1‑92 AAGGTAAGTGTAAAGCATAA‑CTATGCCTTGTAGAGTGTCTGGTTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGT < 2:258823/149‑1 AAGGTAAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGT < 2:262647/149‑1 AAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGGCTGGCTGTATGCGTCAACGTGAACCCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGTCTGTT < 1:94782/149‑1 TCGAAAAACGCTTGTGTTAAAAATTTGCTAAATTTTGCCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTA‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑ > NC_000913_3_hsa_tpiA/257752‑257907 ‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑tgaaggtaAGTGCAAAG‑ATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGTCTGTT > NC_000913_3_hsa_tpiA/258684‑258831 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ 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. |