Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913 | 2,892,345 | A→G | 7.1% | E44E (GAA→GAG) | queD → | 6‑pyruvoyl tetrahydrobiopterin synthase (PTPS) |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913 | 2,892,345 | 0 | A | G | 7.1% | 164.4 / 2.9 | 56 | E44E (GAA→GAG) | queD | 6‑pyruvoyl tetrahydrobiopterin synthase (PTPS) |
Reads supporting (aligned to +/- strand): ref base A (24/28); new base G (2/2); total (26/30) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.06e-01 |
TAGAGAAATTATGATGTCCACCACGTTATTTAAAGATTTCACCTTCGAAGCCGCTCACCGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAATGATATTCCAGGTCTGGAAAACCCAACCAGCGAGGTTTTAGCAAAATGGATTTGG > NC_000913/2892204‑2892492 | tAGAGAAATTATGATGTCCACCACGTTATTTAAAGATTTCACCTTCGAAGCCGCTCACCGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGAt < 4:167217/148‑1 (MQ=255) agagAAATTATGATGTCCACCACGTTATTTAAAGATTTCACCTTCGAAGCCGCTCACCGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATcc > 2:174147/1‑149 (MQ=255) aaTTATGATGTCCACCACGTTATTTAAAGATTTCACCTTCGAAGCCGCTCACCGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATa < 7:171460/149‑1 (MQ=255) aTTATGATGTCCACCACGTTATTTAAAGATTTCACCTTCGAAGCCGCTCACCGCTTACCACACGTCCCGGAAGGACATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATAc > 3:203954/1‑149 (MQ=255) tgTCCACCACGTTATTTAAAGATTTCACCTTCGAAGCCGCTCACCGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTgg < 7:32253/149‑1 (MQ=255) caccacGTTATTTAAAGATTTCACCTTCGAAGCCGCTCACCGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTa > 7:149468/1‑149 (MQ=255) ccacGTTATTTAAAGATTTCACCTTCGAAGCCGCTCACCGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATTGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATc < 4:22226/149‑1 (MQ=255) ccacGTTATTTAAAGATTTCACCTTCGAAGCCGCTCACCGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATc < 3:81474/149‑1 (MQ=255) ttAAAGATTTCACCTTCGAAGCCGCTCACCGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCt > 8:88807/1‑149 (MQ=255) ttAAAGATTTCACCTTCGAAGCCGCTCACCGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTCCGACTGGAAATTACCGGGGAAGTCGCTCCGCAGACGGGCTGGATTATCGATTTCGCt > 2:65004/1‑149 (MQ=255) tttCACCTTAGAAGCCGCTCACAGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCAGCAAGGGCATTCATTTATGTTTCGACTGGAAATTACCGGTGAAGTCGATCGGCATACGGGCTGGATTATCGATTTCGCTCAACTa > 8:251430/1‑148 (MQ=255) cACCTTCGAAGCCGCTCACCGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTaaaa < 2:5066/148‑1 (MQ=255) cTTCGAAGCCGCTCACCGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAgcgg > 4:24700/1‑149 (MQ=255) ttCGAAGCCGCTCACCGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAgcggc > 6:57267/1‑149 (MQ=255) cGAAGCCGCTCACCGCTTACCACACGTCCCGGAAGGACATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAgcggcg < 4:203954/148‑1 (MQ=255) gCCGCTCACCGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTaa < 3:24700/149‑1 (MQ=255) gCCGCTCACCGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTaa > 2:190021/1‑149 (MQ=255) cGCTCACCGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAaac < 5:144228/149‑1 (MQ=255) tCACCGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTACAAGCGGCGTTTAaaccaa > 8:42211/1‑149 (MQ=255) cACCGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAaaccaac > 5:236198/1‑149 (MQ=255) aCCGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAaaccaacc > 7:193147/1‑149 (MQ=255) aCCGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAaaccaacc > 5:205507/1‑149 (MQ=255) aCCGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACAGGGGAAGTCGATACGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAaaccaacc > 1:78471/1‑149 (MQ=255) cGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTa > 7:60167/1‑149 (MQ=255) aCCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAgc > 1:70712/1‑149 (MQ=255) aCCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAg < 6:205507/148‑1 (MQ=255) acacGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGcc > 1:210972/1‑149 (MQ=255) acGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTc < 1:129669/149‑1 (MQ=255) acGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTc < 6:236198/149‑1 (MQ=255) cGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCAc < 8:149468/149‑1 (MQ=255) aGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCAtt < 1:190021/149‑1 (MQ=255) aaTGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAAt < 8:193147/149‑1 (MQ=255) aaTGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAAt < 6:47514/149‑1 (MQ=255) aaTGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTAACGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAAt < 2:196692/149‑1 (MQ=255) gCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTAAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAATGATATTc > 3:125712/1‑147 (MQ=255) aTTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAATGATATTCCAGGTCTGGAAAAc > 2:177146/1‑149 (MQ=255) cTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAATGATATTCCAGGTCTGGAAAACCCaa > 7:245508/1‑149 (MQ=255) cTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAATGATATTCCAGGTCTGGAAAACCCaa > 1:227621/1‑149 (MQ=255) cTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAATGATATTCCAGGTCTGGAAAACCCaa > 2:226173/1‑149 (MQ=255) tttATGGTGCGACTGGAAATTACCGGGGAGGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAATGATATTCCAGGTCTGGAAAACCCAAc > 2:104931/1‑149 (MQ=255) tttATGGTGCGACTGGAAATTACCGGGGAGGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCATCGATCACCATTATCTCAATGATATTCCCTGTCTGGAAAACCAAAc > 2:108276/1‑149 (MQ=255) ggtcGACTGGAAATTACCGGGGAAGGCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAATGATATTCCAGGTCTGGAAAACCCAACCAGCg < 4:9702/145‑1 (MQ=255) gTGCGACTGGAAATTACCGGGGAGGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAATGATATTCCAGGTCTGGAAAACCCAACCAGCGa < 1:104931/149‑1 (MQ=255) gTGCGAATGTAAATTACCGGGGAGGTCGATCCGCATACGGGCTGGAGTAGCGATTTAGCTGAACTAAAAGCGGCGTTTAAACCACCCTCCGAGCGCCTCGATCACCATTATCTCAATGATATTCCAGGTCTGGAAAACCCAACCAGCGa < 1:108276/149‑1 (MQ=255) gACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAATGATATTCCAGGTCTGGAAAACCCAACCAGCGAGGtt < 1:75437/149‑1 (MQ=255) aCTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAAt < 6:96859/112‑1 (MQ=255) aCTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAAt > 5:96859/1‑112 (MQ=255) aCTGGAAATTAACGGGGAAGTAGATCCGCATACGGGCTGGATTATCGATTTCTCTGAACTAAAAGCGGCGTTTAAACCAACCTACGATCGCCTCGATCACCATTATCTCAATGATATTCCAGGTCTGTAAAACCCAACCAGCGAGGttt < 2:78471/149‑1 (MQ=255) gAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAATGATATTCCAGGTCTGGAAAACCCAACCAGCGAGGTTTTa < 2:227621/147‑1 (MQ=255) gAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTAAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAATGATATTCCAGGTCTGGAAAACCCAACCAGCGAGGTTTTa < 4:125712/147‑1 (MQ=255) gAAATTACCGGAGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAATGATATTCCAGGTCTGGAAAACCCAACCAGCGAGGTTTTAg < 3:151715/148‑1 (MQ=255) aaTTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAATGATATTCCAGGTCTGGAAAACCCAACCAGCGAGGTTTTAGCa > 2:234756/1‑148 (MQ=255) ttACCGGTGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAATGATATTCCAGGTCTGGAAAACCCAACCAGCGAGGTTTTAGCaaaa < 4:34563/149‑1 (MQ=255) aCCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAATGATATTCCAGGTCTGGAAAACCCAACCAGCGAGGTTTTAGCAAAAt < 1:174147/148‑1 (MQ=255) ggggAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAATGATATTCCAGGTCTGGAAAACCCAACCAGCGAGGTTTTAGCAAAATGGAt < 7:88807/149‑1 (MQ=255) gAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAATGATATTCCAGGTCTGGAAAACCCAACCAGCGAGGTTTTAGCAAAATGGATTTg < 8:60167/149‑1 (MQ=255) aaGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTCAACTAAAAGCGGCGTTTTAACCAACCTACGAGCGCCTCGATCAGCATTATCTCAATGATATTCCATGTCTGGAAAACCCAACCAGCGAGGTTTTAGCAAAATGGATTTgg < 7:251430/149‑1 (MQ=255) | TAGAGAAATTATGATGTCCACCACGTTATTTAAAGATTTCACCTTCGAAGCCGCTCACCGCTTACCACACGTCCCGGAAGGGCATAAATGTGGTCGCCTGCACGGGCATTCCTTTATGGTGCGACTGGAAATTACCGGGGAAGTCGATCCGCATACGGGCTGGATTATCGATTTCGCTGAACTAAAAGCGGCGTTTAAACCAACCTACGAGCGCCTCGATCACCATTATCTCAATGATATTCCAGGTCTGGAAAACCCAACCAGCGAGGTTTTAGCAAAATGGATTTGG > NC_000913/2892204‑2892492 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 21 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |