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 | 257908–258671 | 258683 | 13–776 | 51 [0] | [0] 51 | [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) | 49 (1.090) | 41/270 | 0.2 | 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 |
CGCTTGTGTTAAAAATTTGCTAAATTTTGCCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAGGTAATGACTCCAACTTATTGATAGTGTTTTATGTTCAGATAATGCCCGATGACTTTGTCATGCAGCTCCACCGATTTTGAGAACGACAGCGACTTCCGTCCCAGCCGTGCCAGGTGCTGCCTCAGATTCAGGTTATGCCGCTCAATT > NC_000913_3_hsa_tpiA/257760‑258055 | cacttGTGTTAAAAAGTTGCTAAATTTTGCCAATTTCGTAAAACAGTGGCATCACAACAGTAGATAGCAATGATGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAACTTACCGCACTAGGCCCGTATATTCGTGAAGGTAa < 2:37110‑M1/147‑2 (MQ=255) cGCTTGTGTTAAAAATTTGCTAAATTTTGCCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAa > 1:731391‑M1/1‑148 (MQ=255) gCTTGTGTTAAAAATTTGCTAAATTTTGCCAATTTGGTAAAACAGTTGCATCACAACGGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAag < 1:623226‑M1/149‑3 (MQ=255) gtTAAAAATTTGCTAAATTTTGCCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaa < 1:368880‑M1/149‑9 (MQ=255) tAAATTTTGCCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattct > 2:826640‑M1/1‑128 (MQ=255) tAAATTTTGCCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattct > 2:638830‑M1/1‑128 (MQ=255) aaaTTTTGCCAATTTGGTAAAACAGTTGCATCGCAACAGGAGATAGCCATGACTTTACCGAGTGGACACCCGAAGAGCAGCTTGATCCAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctt < 1:530201‑M1/149‑23 (MQ=255) aTTTTGACAATTAGGCAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttt > 2:311288‑M1/1‑125 (MQ=255) ttttGCCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattcttttt < 1:597532‑M1/149‑26 (MQ=255) tGCCAATGTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcga < 1:540300‑M1/149‑29 (MQ=255) aaTTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCATTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgt < 1:396749‑M1/149‑33 (MQ=255) aTTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACACGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcgaagataagcgattctttttcgcttgtc > 1:183853‑M1/1‑116 (MQ=255) aTTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACACGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattgtttttcgagtgtc > 1:49078‑M1/1‑116 (MQ=255) aaaCAGTTGCATCACAACAGGAGATAGCAATGACGTTAACGAGTAGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCACGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgta > 2:54029‑M1/1‑108 (MQ=255) gCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataat > 1:27447‑M1/1‑100 (MQ=255) gCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataat < 2:27447‑M1/114‑15 (MQ=255) tcccaacaggaGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgt < 2:711507‑M1/146‑53 (MQ=255) cacaACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATGCGTGACGGTAgtggcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtg > 1:158930‑M1/1‑96 (MQ=255) caGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaatgataatcgatgcttgttcgattgtctggctgtatgcttcaacgtgaaacc > 1:798686‑M1/1‑91 (MQ=255) gaaagcaATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcac < 1:341604‑M1/146‑64 (MQ=255) cAATGACGTTACCTAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcaccggaa < 1:17914‑M1/149‑69 (MQ=255) aaTGACGTTACCGAGTGGACACTCGAGATGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcaccggaag < 1:775288‑M1/149‑70 (MQ=255) aaTGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAGAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcaccggaag < 1:778557‑M1/149‑70 (MQ=255) gACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcaccggaagtgc < 1:808247‑M1/149‑73 (MQ=255) cGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcaccggaagtgcgt < 1:831368‑M1/149‑75 (MQ=255) cGTTACCGAGGGGACACCAGAAGAGCAGATTGATCCAAAAAGTTACCGCACGAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctgtttcgattgtggggctgtatgcgtcaacgtgaaaccggcaccggaagtgcgt < 2:278705‑M1/149‑75 (MQ=255) cGTCACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcaccggaagtgcgt < 1:831384‑M1/149‑75 (MQ=255) ttACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATGTACCGCACTACGCCCGTATATTCGTGAAGTTAggtgcaaagataatcgattctatttcgattgcctggctgtatgcgtcaacgtgaaaccggcaccggaactgcgtgg > 2:6329‑M1/1‑73 (MQ=255) tACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtcagcgggagtgttaaaccggcaccggaagtgcgtgaa < 1:825799‑M1/149‑78 (MQ=255) ccGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcaccggaagtgcgtgaatt < 1:794159‑M1/149‑80 (MQ=255) cgaagggacaccCGAAAAGCAGATTGATCAAAAAATTTACCCCACTAGGCCCTTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcaccggaagtgcgtgaattc < 2:109485‑M1/144‑81 (MQ=255) aGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcaccggaagtgcgtgaattctg < 1:199368‑M1/149‑83 (MQ=255) aGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcaccggaagtgcgtgaattctg < 2:357167‑M1/149‑83 (MQ=255) aGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcaccggaagtgcgtgaattctg < 2:278029‑M1/149‑83 (MQ=255) gTGGAAACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGGGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcaccggaagtgcgtgaattctgg < 2:647894‑M1/149‑84 (MQ=255) tGGACTCCCGAAGAGCAGCTTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcaccggaagtgcgtgaattctggg < 1:94965‑M1/149‑85 (MQ=255) cccGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcaccggaagtgcgtgaattctggggctggt > 2:15266‑M1/1‑59 (MQ=255) aaGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcaccggaagtgcgtgaattctggggctggtggat > 1:723787‑M1/1‑55 (MQ=255) aaGAGCAGATTGATCAAAAAAGTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggttgtatgcgtcaacgtgaaaccggcaccggaagtgcgtgaattctggggctggtggat < 2:643240‑M1/149‑95 (MQ=255) agagCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcaccggaagtgcgtgaattctggggctggtggatg < 1:802012‑M1/149‑96 (MQ=255) gagCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcaccggaagtgcgtgaattctggggctggtggatgg < 1:311288‑M1/149‑97 (MQ=255) agCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattcttttt < 2:166500‑M1/77‑26 (MQ=255) agCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattcttttt > 1:166500‑M1/1‑52 (MQ=255) tCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcaccggaagtgcgtgaattctggggctggtgga < 2:785634‑M1/135‑94 (MQ=255) tCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcaccggaagtgcgtgaattctggggctggtgga > 1:785634‑M1/1‑42 (MQ=255) aaaaaaTTGACCCCACGAGGCCCGTATATGCGTGAAGGTAagtgcaaagagaatcgattctttttcgattgtctggctgtatgcgtcaacgtgaagccggcaccggaagtgcgtgaattctggggctggtggatggagctggaagcgca < 1:367671‑M1/149‑110 (MQ=255) aaaaaTTTACCGCACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcaccggaagtgcgtgaattctggggctggtggatggagctggaagcgcag < 1:15266‑M1/149‑111 (MQ=255) ttACCCCACTAGGCCCGTATATTCGTGAAGGGAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcaccggaagtgcgtgaattctggggctggtggatggagctggaagcgcaggaatcc < 1:486455‑M1/149‑117 (MQ=255) cACTAGGCCCGTATATTCGTGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcaccggaagtgcgtgaattctggggctggtggatggagctggaagaggaggaatcgcgtttt > 2:663848‑M1/1‑27 (MQ=255) tGAAGGTAagtgcaaagataatcgattctttttcgattgtctggctgtatgcgtcaacgtgaaaccggcaccggaagtgcgtgaattctggggctggtggatggagctggaagggcaggaatcccgttttacctacagttaccagtttg > 2:371933‑M1/1‑8 (MQ=255) aagggcaaagataatcgattctttttcgattgtctggctgtaggcgtcaacgtgaaaccggcaccggaagtgcgtgaattctggggctggtggatggagctggaagcgcaggaatcccgttttacctacagttaccagtttggtctgtt < 2:798686‑M1/149‑149 (MQ=255) | CGCTTGTGTTAAAAATTTGCTAAATTTTGCCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAGGTAATGACTCCAACTTATTGATAGTGTTTTATGTTCAGATAATGCCCGATGACTTTGTCATGCAGCTCCACCGATTTTGAGAACGACAGCGACTTCCGTCCCAGCCGTGCCAGGTGCTGCCTCAGATTCAGGTTATGCCGCTCAATT > NC_000913_3_hsa_tpiA/257760‑258055 |
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: ‑ |