Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 5,447,376 | A→G | 7.0% | Q294R (CAG→CGG) | hemL → | glutamate‑1‑semialdehyde 2,1‑aminomutase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 5,447,376 | 0 | A | G | 7.0% | 164.7 / 2.5 | 57 | Q294R (CAG→CGG) | hemL | glutamate‑1‑semialdehyde 2,1‑aminomutase |
Reads supporting (aligned to +/- strand): ref base A (26/27); new base G (2/2); total (28/29) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.67e-01 |
GCGGCGCCCAGGGCCATTACGGCATCAAGCCGGACCTGTCGACCTTCGGCAAGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGCCGCATGCTTGACGGCCTGCAGCAACGCGCCGATGCCGCTGGC > NC_002947/5447238‑5447524 | gcggcgCCCAGGGCCATTACGGCATCAAGCGGGACCTGTCGACCTTCGGCAAGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCAcc < 1:150423/149‑1 (MQ=255) gcggcgCCCAGGGCCATTACGGCATCAAGCCGGACCTGTCGACCTTCGGCAAGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCAcc < 4:292268/149‑1 (MQ=255) cccAGGGCCATTACGGCATCAAGCCGGACCTGTCGACCTTCGGCAAGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCg < 1:157131/149‑1 (MQ=255) ccAGGGCCATTACGGCATCAAGCCGGACCTGTCGCCCTTCGGCAAGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCgg > 5:3758/1‑149 (MQ=255) ccAGGGCCATTACGGCATCAAGCCGGACCTGTCGACCTTCGGCAAGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCgg < 2:67998/149‑1 (MQ=255) aGGGCCATTACGGCATCAAGCCGGACCTGTCGACCTTCGGCAAGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGc < 5:102204/149‑1 (MQ=255) ccATTACGGCATCAAGCCGGACCTGTCGACCTTCGGCAAGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAAcc > 3:21654/1‑149 (MQ=255) ccATTACGGCATCAAGCCGGACCTGTCGACCTTCGGCAAGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAAc < 4:193187/148‑1 (MQ=255) ccATTACGGCATCAAGCCGGACCTGTCGACCTTCGGCAAGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAAc > 3:193187/1‑148 (MQ=255) ttACGGCATCAAGCCGGACCTGTCGACCTTCGGCAAGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCgg > 2:269636/1‑140 (MQ=255) ttACGGCATCAAGCCGGACCTGTCGACCTTCGGCAAGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCgg < 1:269636/140‑1 (MQ=255) tACGGCATCAAGCCGGACCTGTCGACCTTCGGCAAGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCTGGTAGACCGGGCCgagcgg > 5:334567/1‑127 (MQ=255) tACGGCATCAAGCCGGACCTGTCGACCTTCGGCAAGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCTGGTAGACCGGGCCgagcgg < 6:334567/132‑6 (MQ=255) aTCAAGCCGGACCTGTCGACCTTCGGCAAGATCGTGGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCAt < 4:295835/149‑1 (MQ=255) tCAAGCCGGACCTGTCGACCTTCGGCAAGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATg < 5:768/149‑1 (MQ=255) gCCGGACCTGTCGACCTTCGGCAAGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGgccg > 5:190468/1‑149 (MQ=255) ggACCTGTCGACCTTCGGCAAGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGccgccg < 8:91909/149‑1 (MQ=255) gTCGACCTTCGGCAAGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAGCCCGCTGGCCATGGCCGCCGGCCTGa < 4:249890/149‑1 (MQ=255) tCGACCTTCGGCAAGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGa < 6:190468/148‑1 (MQ=255) gACCTTCGGCAAGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGacca < 6:3758/149‑1 (MQ=255) cTTCGGCAAGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGaccacc > 6:50918/1‑148 (MQ=255) ttCGGCAAGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGACGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCt > 6:161114/1‑149 (MQ=255) aaGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCt > 2:119019/1‑149 (MQ=255) gATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGa < 7:56632/149‑1 (MQ=255) gtcgGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCa < 5:50918/148‑1 (MQ=255) gcggcATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGCCCACCCTCAAGCTGATCAgccgcc > 6:323850/1‑147 (MQ=255) gcggcATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCa < 7:235303/141‑1 (MQ=255) gcggcATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCa > 8:235303/1‑141 (MQ=255) gcggcATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCa < 1:216257/149‑1 (MQ=255) aTGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCTGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCtt < 1:205190/149‑1 (MQ=255) gCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGcata > 5:216434/1‑145 (MQ=255) cccGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCt < 6:216434/145‑1 (MQ=255) cGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAg < 4:21654/149‑1 (MQ=255) gAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGCCg > 2:113936/1‑149 (MQ=255) gAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGCCg > 6:159199/1‑149 (MQ=255) aaaTCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGcc > 5:293948/1‑147 (MQ=255) aaaTCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGcc < 6:293948/147‑1 (MQ=255) aaaTCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGCCg < 5:161114/148‑1 (MQ=255) aTCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGCCGCAt > 5:84870/1‑149 (MQ=255) tCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGCCGCATg > 7:291442/1‑149 (MQ=255) tGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGCCGCATGCtt > 4:143533/1‑149 (MQ=255) ggCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGCCGCATGCTTGa > 5:44967/1‑149 (MQ=255) gCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGCCGCATGCTTgcc > 7:236563/1‑147 (MQ=255) gCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGCCGCATGCTTGAc < 1:119019/149‑1 (MQ=255) cTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTacac > 2:117912/1‑132 (MQ=255) tGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCa < 7:137064/133‑1 (MQ=255) tGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCa > 8:137064/1‑133 (MQ=255) cGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGCCGCATGCTTGACGGCCTg > 7:267214/1‑148 (MQ=255) gCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCCCCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGCCGCATGCTTGACGGCCTg > 2:88287/1‑147 (MQ=255) gCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGCCGCATGCTTGACGGCCTgc < 8:267214/148‑1 (MQ=255) ccGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGCCGCATGCTTGACGGCCTgcagc > 3:100050/1‑148 (MQ=255) cTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGCCGCATGCTTGACGGCCTGCAGCAAcg > 6:224028/1‑149 (MQ=255) cGGCCTGGTAGACCGGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGCCGCATGCTTGACGGCCTgc > 7:118405/1‑140 (MQ=255) cGGCCTGGTAGACCGGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGCCGCATGCTTGACGGCCTgc < 8:118405/140‑1 (MQ=255) gCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGCCGCATGCTTGACGGCCTGCAGCAACGCGcc < 4:289819/149‑1 (MQ=255) aCCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGc < 7:146569/110‑1 (MQ=255) aCCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGc > 8:146569/1‑110 (MQ=255) aGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGCCGCATGCTTGACGGCCTGCAGCAACGCGCCGATGCCGCTGGc > 6:88850/1‑149 (MQ=255) | GCGGCGCCCAGGGCCATTACGGCATCAAGCCGGACCTGTCGACCTTCGGCAAGATCGTCGGTGGCGGCATGCCGGTCGGCTGTTTCGGCGGCAAGCGTGAAATCATGGGCTGCATCGCCCCGCTCGGCCCGGTCTACCAGGCCGGCACCCTGTCGGGCAACCCGCTGGCCATGGCCGCCGGCCTGACCACCCTCAAGCTGATCAGCCGCCCAGGCTTCCACGCCGAGCTGACCGACTACACCAGCCGCATGCTTGACGGCCTGCAGCAACGCGCCGATGCCGCTGGC > NC_002947/5447238‑5447524 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |