Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 1,686,265 | C→G | 8.3% | E186Q (GAG→CAG) | patD ← | medium chain aldehyde dehydrogenase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 1,686,265 | 0 | C | G | 8.3% | 146.5 / 4.7 | 48 | E186Q (GAG→CAG) | patD | medium chain aldehyde dehydrogenase |
Reads supporting (aligned to +/- strand): ref base C (26/18); new base G (2/2); total (28/20) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.10e-01 |
CGCTGATGATGTGCGCGCCGGTGGGGATCGAGCCGGTCAGCGACACCATGCGCACCTTGGGGTGGGTTATCAACGGGTTGCCGACCGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCAGGCCAGCATCATCAGCGGGTAGTTCCACGGCGCGATGGAAGCCACCACGCCCAACGGGTCG > NC_002947/1686118‑1686413 | cgcTGATGATGTGCGCGCCGGTGGGGATCGAGCCGGTCAGCGACACCATGCGCACCTTGGGGTGGGTTATCAACGGGTTGCCGACCGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGc < 1:76105/150‑1 (MQ=255) gcTGATGATGTGCGCGCCGGTGGGGATCGAGCCGGTCAGCGACACCATGCGCACCTTGGGGTGGGTTATCAACGGGTTGCCGACCGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGcc > 2:799580/1‑150 (MQ=255) gATCGAGCCGGTAAGCGACACCATGCGCACCTTGGGGTGGGTTATCAACGGGTTGCCGACCGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGt > 2:1267129/1‑150 (MQ=255) aTCGAGCCGGTCAGCGACACCATGCGCACCTTGGGGTGGGTTATCAACGGGTTGCCGACCGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTc > 2:979895/1‑150 (MQ=255) ccGGTCAGCGACACCATGCGCACCTTGGGGTGGGTTATCAACGGGTTGCCGACCGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCg > 1:786213/1‑150 (MQ=255) gTCAGCGACACCATGCGCACCTTGGGGTGGGTTATCAACGGGTTGCCGACCGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGAc < 2:1117806/150‑1 (MQ=255) aGCGACACCATGCGCACCTTGGGGTGGGTTATCAACGGGTTGCCGACCGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGc > 1:201598/1‑150 (MQ=255) cATGCGCACCTTGGGGTGGGTTATCAACGGGTTGCCGACCGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGGCCTGGGCCAGCTCGCCCCGGCGCAGGGCCGTCAGCGGCGTCAGCTCAGACGGCTTTATcac > 2:88115/1‑150 (MQ=255) aTGCGCACCTTGGGGTGGGTTATCAACGGGTTGCCGACCGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATcacc < 1:799580/150‑1 (MQ=255) tGCGCACCTTGGGGTGGGTTATCAACGGGTTGCCGACCGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATcacca < 1:1267129/150‑1 (MQ=255) cTTGGGGTGGGTTATCAACGGGTTGCCGACCGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGtt < 1:962007/150‑1 (MQ=255) cTTGGGGTGGGTTATCAACGGGTTGCCGACCGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGtt > 2:334317/1‑150 (MQ=255) ggggTGGGTTATCAACGGGTTGCCGACCGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGcc < 2:873006/150‑1 (MQ=255) ttATCAACGGGTTGCCGACCGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCa > 2:180823/1‑150 (MQ=255) tCAACGGGTTGCCGACCGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATcacca > 1:1082018/1‑129 (MQ=255) tCAACGGGTTGCCGACCGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATcacca < 2:1082018/129‑1 (MQ=255) ggTTGCCGACCGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTgggg > 1:236576/1‑150 (MQ=255) ttGCCGACCGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCg > 1:393023/1‑150 (MQ=255) gACCGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCtt > 2:175488/1‑150 (MQ=255) aCCGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTc < 1:175488/150‑1 (MQ=255) aCCGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTc < 1:334317/150‑1 (MQ=255) cGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCa > 2:939213/1‑150 (MQ=255) cGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCa < 2:751354/150‑1 (MQ=255) tGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCAGGcc < 1:180823/150‑1 (MQ=255) ccGCGGACGCAGAGAATGTCCAACACCCCCGTCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCAGGCCAGc > 1:670631/1‑150 (MQ=255) ccGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCAGGCCAGCatcatc > 1:249430/1‑150 (MQ=255) gagaATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCAGGCCAGCATCATCAGCgg > 2:1241333/1‑150 (MQ=255) agaATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCAGGCCAGCATCATCAGCggg > 1:1094748/1‑150 (MQ=255) aaTGTTCAGCACCCCCGGCGGCAGCCTTAAGTTGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCAGGCCAGCATCATCAGCGGGTa > 1:674931/1‑150 (MQ=255) aaTGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCAGGCCAGCATCATCAGCGGGTa > 1:457822/1‑150 (MQ=255) aaTGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCAGGCCAGCATCATCAGCGGGTa > 2:451526/1‑150 (MQ=255) tGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCAGGCCAGCATCATCAGCGGGTAGt > 1:1219040/1‑150 (MQ=255) ttCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCAGGCCAGCATCATCAGCGGGTAGTTc < 1:451526/150‑1 (MQ=255) cACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCACCGGCGTCAGCTCGGACGGCTTTAGCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGAGATCGTCCAGGCCAGCATCATCACCGGGTAGTTCCACgg > 1:409121/1‑150 (MQ=255) ccGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCAGGCCAGCATCATCAGCGGGTAGTTCCACGGCGCGa > 2:1284591/1‑150 (MQ=255) ccGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCAGGCCAGCATCATCAGCGGGTAGTTCCACGGCGCGa < 1:1178541/150‑1 (MQ=255) cggcggCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCAGGCCAGCATCATCAGCGGGTAGTTCCACGGCGCGAt > 2:95590/1‑150 (MQ=255) ggcAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCAGGCCAGCATCATCAGCGGGTAGTTCCACGGCGCGATg < 2:906979/147‑1 (MQ=255) ggcAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCAGGCCAGCATCATCAGCGGGTAGTTCCACGGCGCGATg > 1:906979/1‑147 (MQ=255) ggcAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCAGGCCAGCATCATCAGCGGGTAGTTCCACGGCGCGATGGaa < 2:670631/150‑1 (MQ=255) gcaAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGGCAGGGCTGGGGCGATCTTCCAGGCCAGCATCATCAGCGGGTAGTTCCACGGCGCGATGGAAGcca < 2:201598/150‑1 (MQ=255) gcaAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCAGGCCAGCATCATCAGCGGGTAGTTCCACGGCGCGATGGAAGcca < 2:393023/150‑1 (MQ=255) gccTGGGCGAGCTGGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCtt < 2:848155/97‑1 (MQ=255) gccTGGGCGAGCTGGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCtt > 1:848155/2‑98 (MQ=255) ccTGGGCGAGCTGGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCAGGCCAGCATCATCAGCgg < 2:898687/118‑1 (MQ=255) ccTGGGCGAGCTGGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCAGGCCAGCATCATCAGCgg > 1:898687/1‑118 (MQ=255) cAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGACTTCTCACCCCGGTGTTGCCAACAGCCATGGGTCGTTCGATCTTCCATGCCAGCATCATCAGCGGGTAGTTCCACGGCGCGATGGAAGCCACCACGCCCAACgg < 2:786213/150‑1 (MQ=255) tCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCAGGCCAGCATCATCAGCGGGTAGTTCCACGGCGCGATGGAAGCCACCACGCCCAACGGGTcg > 1:664429/1‑150 (MQ=255) | CGCTGATGATGTGCGCGCCGGTGGGGATCGAGCCGGTCAGCGACACCATGCGCACCTTGGGGTGGGTTATCAACGGGTTGCCGACCGTCTGGCCGCGGCCGAAGAGAATGTTCAGCACCCCCGGCGGCAGCAAGTCCTGGGCCAGCTCGCCCAGGCGCAGGGCCGTCAGCGGCGTCAGCTCGGACGGCTTTATCACCACGGTGTTGCCGGCAGCCAGGGCTGGGGCGATCTTCCAGGCCAGCATCATCAGCGGGTAGTTCCACGGCGCGATGGAAGCCACCACGCCCAACGGGTCG > NC_002947/1686118‑1686413 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |