Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 5,102,731 | C→T | 7.4% | intergenic (+11/‑29) | phhA → / → phhB | phenylalanine‑4‑hydroxylase/pterin‑4‑alpha‑carbinolamine dehydratase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 5,102,731 | 0 | C | T | 7.4% | 153.5 / 2.9 | 54 | intergenic (+11/‑29) | phhA/phhB | phenylalanine‑4‑hydroxylase/pterin‑4‑alpha‑carbinolamine dehydratase |
Reads supporting (aligned to +/- strand): ref base C (28/22); new base T (2/2); total (30/24) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 6.99e-01 |
TTTCGTACTGCCGAACATGAAGCGCCTGTTCGACCTGGCCCACGAGGACATCATGGGCATGGTCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGCCGAGCTGATCCGCGAAATCCCGGACTGGAACATCGAAGTACGTGACG > NC_002947/5102597‑5102880 | tttCGTACTGCCGAACATGAAGCGCCTGTTCGACCTGGCCCACGAGGACATCATGGGCATGGTCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAAc > 1:909085/1‑150 (MQ=255) cGAACATGAAGCGCCTGTTCGACCTGGCCCACGAGGACATCATGGGCATGGTCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACAcc > 1:600465/1‑150 (MQ=255) aCATGAAGCGCCTGTTCGACCTGGCCCACGAGGACATCATGGGCATGGTCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCa < 1:1078588/150‑1 (MQ=255) aTGAAGCGCCTGTTCGACCTGGCCCACGAGGACATCATGGGCATGGTCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCGTg > 1:91774/1‑150 (MQ=255) cTGTTCGACCTGGCCCACGAGGACATCATGGGCATGGTCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTg > 1:520821/1‑150 (MQ=255) gTTCGACCTGGCCCACGAGGACATCATGGGCATGGTCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGACAACACCTCATGAATGCCTTGaa < 1:583885/150‑1 (MQ=255) aCCTGGCCCACGAGGACATCATGGGCATGGTCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAg > 1:1042539/1‑150 (MQ=255) ccACGAGGACATCATGGGCATGGTCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTg < 2:250685/150‑1 (MQ=255) aCGAGGACATCATGGGCATGGTCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCg > 1:742255/1‑150 (MQ=255) gAGGACATCATGGGCATGGTCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGaa > 2:1055685/1‑150 (MQ=255) atcatGGGCATGGTCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCCCCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGc > 1:412744/1‑150 (MQ=255) atcatGGGCATGGTCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAAc < 2:401404/101‑1 (MQ=255) atcatGGGCATGGTCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAAc < 2:401421/101‑1 (MQ=255) atcatGGGCATGGTCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAAc > 1:401404/1‑101 (MQ=255) atcatGGGCATGGTCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAAc > 1:401421/1‑101 (MQ=255) atcatGGGCATGGTCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCt < 2:371227/124‑1 (MQ=255) atcatGGGCATGGTCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCt > 1:371227/1‑124 (MQ=255) tGGGCATGGTCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCcgcg > 1:611843/1‑150 (MQ=255) cATGGTCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGaa > 2:268900/1‑111 (MQ=255) cATGGTCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGaa < 1:268900/111‑1 (MQ=255) tCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTc < 2:428100/101‑1 (MQ=255) tCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTc > 1:428100/1‑101 (MQ=255) aTAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGa > 1:505776/1‑150 (MQ=255) aaaGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGaaa < 2:520821/150‑1 (MQ=255) ccATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGGCTGCCGCGCCGATGCGCCGAAAGTCa > 2:4725/1‑150 (MQ=255) aTGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGaaa < 1:1058724/144‑1 (MQ=255) aTGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGaaa > 2:1058724/1‑144 (MQ=255) gTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGc < 2:909085/150‑1 (MQ=255) tgcatgcaCCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTgg < 1:735047/150‑1 (MQ=255) atgcaCCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGCCg > 2:684710/1‑150 (MQ=255) aCCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGCCGAGCt > 1:386800/1‑150 (MQ=255) aCCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGCCGAGCt > 1:564526/1‑150 (MQ=255) aCCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGCCGAGCt > 1:564519/1‑150 (MQ=255) aaGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGCCGAGCTGATc > 2:1099130/1‑150 (MQ=255) aCCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTTAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGCCGAGCTGATCCGCGAAAt > 2:513360/1‑150 (MQ=255) aaGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTTAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGCCGAGCTGATCCGCGAAATCCCg < 1:513360/150‑1 (MQ=255) aaGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGCCGAGCTGATCCGCGAAATCCCg < 1:36036/150‑1 (MQ=255) ggTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGCCGAGCTGATCCGCGAAATCCCGGa < 2:611843/150‑1 (MQ=255) gCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGTCGAGCTGATCCGCGAAATCCCGGACTgg < 1:1055685/150‑1 (MQ=255) gCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGCCGAGCTGATCCGCGAAATCCCGGACTgg < 2:412744/150‑1 (MQ=255) cTGCCTGAGCGACCTTGCTGATAACAACTCGAACCGGAAAACACCTCGTGAATGCCTTGAACCAAGCCCATTGCGAAGCCTTCCGCGCCGATGCGCCGAAAGTCa > 2:533602/1‑105 (MQ=255) cTGCCTGAGCGACCTTGCTGATAACAACTCGAACCGGAAAACACCTCGTGAATGCCTTGAACCAAGCCCATTGCGAAGCCTTCCGCGCCGATGCGCCGAAAGTCa > 2:533612/1‑105 (MQ=255) cTGCCTGAGCGACCTTGCTGATAACAACTCGAACCGGAAAACACCTCGTGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCa < 1:533612/105‑1 (MQ=255) cTGCCTGAGCGACCTTGCTGATAACAACTCGAACCGGAAAACACCTCGTGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCa < 1:533602/105‑1 (MQ=255) tGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGCCGAGCTGATCCGCGAAATCCCGGACTGGaa > 1:982994/1‑150 (MQ=255) gCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGCCGAGCTGATCCGCGAAATCCCGGACTGGAACATCGaa < 2:1042539/150‑1 (MQ=255) cGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGATCGGTCCCGGTTTCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGCCGAGCTGATCCGCGAAATCCCGGACTGGAACATCNAAg < 2:705021/150‑1 (MQ=255) ccTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGCCGAGCTGATCCGCGAAATCCCGGACTGGAACATCGAAGTAc > 1:783244/1‑150 (MQ=255) cTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGCCGAGCTGATCCGCGAAATCCCGGACTGGAACATCGAAGTACg < 1:509506/150‑1 (MQ=255) ttGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGCCGAGCTGATCCGCGAAATCCCGGACTGGAACATCGaa > 2:344428/1‑144 (MQ=255) ttGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGCCGAGCTGATCCGCGAAATCCCGGACTGGAACATCGaa < 1:344428/144‑1 (MQ=255) ttGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGCCGAGCTGATCCGCGAAATCCCGGACTGGAACATCGAAGTACGt > 2:437067/1‑150 (MQ=255) ttGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGCCGAGCTGATCCGCGAAATCCCGGACTGGAACATCGAAGTACGt < 2:742255/150‑1 (MQ=255) ttGCCGATAACAACTCGAACCGGAAAACAACCCATAAAAGCTTATCATGGATATCGTTGCGAAGCATGCCTGTCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGCCGAGCTGATCCGCGAAATCCCGGACTGGCACATCGAAGTActt > 1:193368/1‑148 (MQ=255) cGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGCCGAGCTGATCCGCGAAATCCCGGACTGGAACATCGAAGTACGTGACg > 2:895042/1‑150 (MQ=255) | TTTCGTACTGCCGAACATGAAGCGCCTGTTCGACCTGGCCCACGAGGACATCATGGGCATGGTCCATAAAGCCATGCAGCTGGGTCTGCATGCACCGAAGTTTCCACCCAAGGTCGCTGCCTGAGCGACCTTGCCGATAACAACTCGAACCGGAAAACACCTCATGAATGCCTTGAACCAAGCCCATTGCGAAGCCTGCCGCGCCGATGCGCCGAAAGTCACCGACGAAGAGCTGGCCGAGCTGATCCGCGAAATCCCGGACTGGAACATCGAAGTACGTGACG > NC_002947/5102597‑5102880 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |