Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | ACB122 | 887,141 | G→C | 17.5% | L15L (CTG→CTC) | slyD → | FKBP‑type peptidyl‑prolyl cis‑trans isomeraseSlyD |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | ACB122 | 887,141 | 0 | G | C | 17.5% | 124.8 / 3.7 | 48 | L15L (CTG→CTC) | slyD | FKBP‑type peptidyl‑prolyl cis‑trans isomeraseSlyD |
Reads supporting (aligned to +/- strand): ref base G (30/9); new base C (2/7); total (32/16) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 3.64e-03 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 |
CTGCACCACGTTCGCAATCGGACGATGGCAAGGTTACACTTGTCCGCTCTACATTCTTTTGCAAAAGGTCTTGCCCCATG‑CTGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGCAATATCATCCCGGGCCTGGAAAAAGCCCTGGAAGGCAAGCAGGCTGGTGACGAGCTGA > ACB122/887020‑887271 | cggCACCAGGTTCGCAATCGTCCGTGGGCTTGGTTACACTGGTCCGCTAAACTTTCTTTTGCAAAAGGTCTTGCCCCTTG‑CTGAGCGCCCCCAACAAGGCTGTCTCAATCGAATATACCCTCACCAACGACGCCg < 6:83950/133‑1 (MQ=255) cTGCACCACGTTCGCAATCGGACTATGGCAAGGTTACACTTGTCCGCTCTACATTCTTTTGCAAAAGGTCTTGCCCCATG‑CTGAGCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCg < 7:37304/135‑1 (MQ=255) cTGCACCACGTTCGCAATCGGACGATGGCAAGGTTACACTTGTCCGCTCTACATTCTTTTGCAAAAGGTCTTGCCCCATG‑CTGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCg > 6:348057/1‑135 (MQ=255) tGCACCACGTTCGCAATCGGACGATGGCAAGGTTACACTTGTCCGCTCTACATTCTTTTGCAAAAGGTCTTGCCCCATG‑CTGATCGCCGCCAACAAGGCTGTCTCCATCGCCTATACCCTGACCAACGACGCCgg > 8:53689/1‑135 (MQ=255) cacGTTCGCAATCGGACGATGGCAAGATTACACTTGTCCGCTCTACATTCTTTTGCAAAAGGTCTTGCCCCATG‑CTGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGgaga > 4:91889/1‑135 (MQ=255) tCGCAATCGGACGATGGCAAGGTTACACTTGTCCGCTCTACATTCTTTTGCAAAAGGTCTTGCCCCATG‑CTGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCAt > 7:94716/1‑134 (MQ=255) gCACGGTAACACTTGCCGGCGATACATTC‑TTTGCAAACAGGCCTGCCCCCTGCCTCACCGCCCCCAACACGGCGGGCCCCACCCACTAACCCCGCCCCACCCACGCCGGGGAGACCATCGACAGCTCCGCCGGTg < 6:108137/135‑1 (MQ=255) tACACTTGTCCGCTCTACATTCTTTTGCAAAAGGTCTTGCCCCATG‑CTGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGcgcc > 7:35620/1‑135 (MQ=255) cTTGTCCGCTCTACATTCTTTTGCAAAAGGTCTTGCCCCATG‑CTGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTg > 2:8694/1‑135 (MQ=255) tGTCCGCTCTACATTCTTTTGCAAAAGGTCTTGCCCCATG‑CTGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGt > 1:136199/1‑135 (MQ=255) cGCTCTACATTCTTTTGCAAAAGGTCTTGCCCCATG‑CTGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTCACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTCGCGCGCCGCTGGTTTAc > 4:209236/1‑135 (MQ=255) cGCTCTACATTCTTTTGCAAAAGGTCTAGCCCCATG‑CTGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACACTGACCAACGACGCCGGGGAGACAATCGACAGCTCCGCCGGTGGCGCGCCGCTGCttt > 2:147618/1‑133 (MQ=255) gCTCTACATTCTTTTGCAAAAGGTCTTGCCCCATG‑CTGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCACCGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTAcc < 6:175982/135‑1 (MQ=255) gCTCTACATTCTTTTGCAAAAGGTCTTGCCCCATG‑CTGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTAcc > 7:259938/1‑135 (MQ=255) gCTCTACATTCTTTTGCAAAAGGTCTTGCCCCATG‑CTGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTAcc > 1:46578/1‑135 (MQ=255) gCTCTACATTCTTTTGCAAAAGGTCTTGCCCCATG‑CTGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTAcc > 4:183898/1‑135 (MQ=255) gCTCTACATTCTTTTGCAAAAGGTCTTGCCCCATG‑CTGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTAcc > 5:274191/1‑135 (MQ=255) ctctACATTCTTTTGCAAAAGGTCTTGCCCCATG‑CTGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCt < 2:46578/135‑1 (MQ=255) ctctACATGCTTTTGCAAAAGGCCTTGCCCCATG‑CTGAGCGCCGCCAACACGGCTGCCTCCATCGACAATCCCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCt < 8:33874/135‑1 (MQ=255) ctcaACATTCTTTGCCAAACGGCCTGCCCCCATG‑CTGCCCCCCGCCACCACGGCTGTCCCCACCCACAAACCCCGCCCCACCGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCt < 4:341306/135‑1 (MQ=255) ctatACATTGTTTTCCAAACGGTCTTCCCCCATG‑CTGATCCCCCCCAAAACGGCTGCCCCCATCGACTAACCCCTCACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCt < 4:229524/132‑1 (MQ=255) tACATTCTTTTGCAAAAGGTCTTGCCCCATG‑CTGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCTGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTCGTTTACCTGCa > 4:271003/1‑135 (MQ=255) aagcTTTTGCAAATGGACTGGCCCCATG‑CTGATCCCCCCCAACACGGCTGTCTCCAGCGACTAACCCCGGACCAACGACGCCGGGGACACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCAc < 8:341671/130‑1 (MQ=255) tGCAAAAGGTTTTGCCCCATG‑CTGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCGGGTTTACCTGCACGGTGCCgg > 4:297527/1‑134 (MQ=255) gCAAAAGGGCTTCCCCCATG‑CTGATCGCCGCCAACACGGCTGTCTCCATCGACTATACCCTGACCACCGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGc < 8:94716/134‑1 (MQ=255) aaaaGGTCTTGCCCCATG‑CTGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACACTCACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACGTGCAAGGTGACGGCAat > 1:148679/1‑135 (MQ=255) aaGGTCTTGCCCCATG‑CTGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGCAata > 4:273212/1‑134 (MQ=255) ccccTTG‑CTGAGGGCCGCCAACAGGGCGGTCTCCATCGACTAAACCCTCACCACCGACGCCGGGGAGCCCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGCAATATCATCCCg < 3:271003/133‑1 (MQ=255) cccATG‑CTGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGCAATATCATCCCGGGc > 1:251288/1‑135 (MQ=255) tG‑CTGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGCAATATCATCCCGGGCCTgg < 8:259938/135‑1 (MQ=255) gg‑CTGAGCGCCCCCAACACGGCTGTCTCCATCCACTATCCCCGCCCCACCGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGCAATATCATCCCGGGCCTgg < 3:330331/134‑1 (MQ=255) tcaccgccgcCAACATGGCTGGCCCCATCGACTAAACCCTGCCCACCCACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGCAATATCATCCCGGGCCTGGaaa < 5:143140/131‑1 (MQ=255) tGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCTCGCCGCTGGTTTACCTGCACGGTGCCGGCAATATCATCCCGGGCCTGGaa > 6:65109/1‑134 (MQ=255) tGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGCAATATCATCCCGGGCCTGGaa > 2:264663/1‑134 (MQ=255) tGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGCAATATCATCCCGAGCCTGGaa > 4:353157/1‑134 (MQ=255) tGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGCAATATAATCCCGGGCCTGGaa > 5:271250/1‑134 (MQ=255) gccgccAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGCAATATCATCCCGGGCCTGGAGAAAGcc > 6:348628/1‑135 (MQ=255) gccgccAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGCAATATCATCCCGGGCCTGGAAAAAGcc > 4:166191/1‑135 (MQ=255) gccgccAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGCAATATCATCCCGGGCCTGGAAAAAGcc > 7:154439/1‑135 (MQ=255) gccgccAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGCAATATCATCCCGGGCCTGGAAAAAGcc > 4:217762/1‑135 (MQ=255) gccAACACGGCTTGCTCCATCTACTATACCCTCACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGCAATATCATCCCGGGCCTGGAAAAAGCCCTg < 2:251288/135‑1 (MQ=255) caacaaGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGCAATATCATCCCGGGCCTGGAAAAAGCCCTg > 5:133439/1‑133 (MQ=255) caacaaGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGCAATATCATCCCGGGCCTGGAAAAAGCCCTg > 8:43452/1‑133 (MQ=255) caacaaGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGCAATATCATCCCGGGCCTGGAAAAAGCCCTg > 4:348678/1‑133 (MQ=255) acggCGGTCTCCATCGACTAAACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGCAATATCATCCCGGGCCTGGAAAAAGCCCTGGAAGGc < 1:256351/133‑1 (MQ=255) gACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGCAATATCATCCCGGGCCTGGAAAAAGCCCTGGAAGGCAAGCAGGCTGGTgcc > 8:118865/1‑133 (MQ=255) cccTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGCAATATCATCCCGGGCCTGGAAAAAGCCCTGGAAGGCAAGCAGGCTGGTGACGAGCTGa > 2:242472/1‑135 (MQ=255) cccTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGCAATATCATCCCGGGCCTGGAAAAAGCCCTGGAAGGCAAGCAGGCTGGTGACGAGCTGa > 1:123729/1‑135 (MQ=255) | CTGCACCACGTTCGCAATCGGACGATGGCAAGGTTACACTTGTCCGCTCTACATTCTTTTGCAAAAGGTCTTGCCCCATG‑CTGATCGCCGCCAACAAGGCTGTCTCCATCGACTATACCCTGACCAACGACGCCGGGGAGACCATCGACAGCTCCGCCGGTGGCGCGCCGCTGGTTTACCTGCACGGTGCCGGCAATATCATCCCGGGCCTGGAAAAAGCCCTGGAAGGCAAGCAGGCTGGTGACGAGCTGA > ACB122/887020‑887271 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 15 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |