| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_002947 | 2,295,181 | G→T | 7.1% | A272S (GCG→TCG) | ppgL → | L‑alpha‑hydroxyglutaric acid gamma‑lactonase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_002947 | 2,295,181 | 0 | G | T | 7.1% | 175.8 / 2.0 | 56 | A272S (GCG→TCG) | ppgL | L‑alpha‑hydroxyglutaric acid gamma‑lactonase |
| Reads supporting (aligned to +/- strand): ref base G (25/27); new base T (2/2); total (27/29) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.39e-01 | |||||||||||
CGCGTCACTTGCTGTTCGACGCCAAGGGCCGGCACGCCTACCTCACCCTGGAAATGAACGCCGAGGTGGTGATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAATTGTGGCGTTCAGCGTGGGCAAGCAGGACGGCCAGTTGACGTTCCTGCAGCGTCGCCCGGCAGAAGGTGA > NC_002947/2295038‑2295329 | cgcgTCACTTGCTTTTCGACGCCAAGGGCCGGCACGCCTACCTCACCCTGGAAATGAACGCCGAGGTGGTGATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAgg < 1:857645/150‑1 (MQ=255) gcgTCACTTGCTGTTCGACGCCAAGGGCCGGCACGCCTACCTCACCCTGGAAATGAACGCCGAGGTGGTGATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGgc > 1:975026/1‑150 (MQ=255) gTCACTTGCTGTTCGACGCCAAGGGCCGGCACGCCTACCTCACCCTGGAAATGAACGCCGAGGTGGTGATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGgcag > 1:768488/1‑150 (MQ=255) gCTGTTCGACGCCAAGGGCCGGCACGCCTACCTCACCCTGGAAATGAACGCCGAGGTGGTGATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGGTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTgg < 2:428473/150‑1 (MQ=255) cTGTTCGACGCCAAGGGCCGGCACGCCTACCTCACCCTGGAAATGAACGCCGAGGTGGTGATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGc < 1:742730/150‑1 (MQ=255) ttCGACGCCAAGGGCCGGCACGCCTACCTCACCCTGGAAATGAACGCCGAGGTGGTGATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTg > 1:628604/1‑150 (MQ=255) gACGCCAAGGGCCGGCACGCCTACCTCACCCTGGAAATGAACGCCGAGGTGGTGATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCAc > 2:171670/1‑150 (MQ=255) aCGCCAAGGGCCGGCACGCCTACCTCACCCTGGAAATGAACGCCGAGGTGGTGATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCAcc > 2:1021658/1‑150 (MQ=255) ccAAGGGCCGGCACGCCTACCTCACCCTGGAAATGAACGCCGAGGTGGTGATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGt < 2:1208235/150‑1 (MQ=255) aaGGGCCGGCACGCCTACCTCACCCTGGAAATGAACGCCGAGGTGGTGATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTcg > 2:24759/1‑150 (MQ=255) gggCCGGCACGCCTACCTCACCCTGGAAATGAACGCCGAGGTGGTGTGGTTCGATGTGCAGGACGGCAACCTAGTTGGAAGAAAGCGCAGACTACTGACGGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTcggc > 1:611177/1‑150 (MQ=255) cACGCCTACCTCACCCTGGAAATGAACGCCGAAGTGGTGATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACggg < 2:579086/150‑1 (MQ=255) gCCTACCTCACCCTGGAAATGAACGCCGAGGTGGTGATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGgcgc > 2:368088/1‑150 (MQ=255) cTACCTCACCCTGGAAATGAACGCCGAGGTGGTGATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCtt > 2:491738/1‑150 (MQ=255) tACCTCACCCTGGAAATGAACGCCGAGGTGGTGATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTc < 1:171670/150‑1 (MQ=255) cTCACCCTGGAAATGAACGCCGAGGTGGTGATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTc < 2:1044812/147‑1 (MQ=255) cTCACCCTGGAAATGAACGCCGAGGTGGTGATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTc > 1:1044812/1‑147 (MQ=255) cTCACCCTGGAAATGAACGCCGAGGTGGTGATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTg > 1:847616/1‑150 (MQ=255) aCCCTGGAAATGAACGCCGAGGTGGTGATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTAc > 2:651991/1‑150 (MQ=255) tGGAAATGAACGCCGAGGTGGTGATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGa < 2:975026/150‑1 (MQ=255) tGGAAATGAACGCCGAGGTGGTGATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGa > 1:957487/1‑150 (MQ=255) gATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGt > 1:561743/1‑126 (MQ=255) gATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGt < 2:561743/126‑1 (MQ=255) tGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGaaa < 2:847616/150‑1 (MQ=255) gTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAAt > 2:630550/1‑150 (MQ=255) ttCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGgc > 1:234002/1‑77 (MQ=255) ttCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGgc < 2:234002/77‑1 (MQ=255) ttCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAAtt > 1:441247/1‑150 (MQ=255) cGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGaaa > 2:327262/1‑146 (MQ=255) cGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGaaa < 1:327262/146‑1 (MQ=255) cGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAATtgt < 2:628604/150‑1 (MQ=255) gATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTTGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAATtgtg < 2:108014/150‑1 (MQ=255) gATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAATtgtg < 1:630550/150‑1 (MQ=255) gATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAATtgtg < 1:810806/150‑1 (MQ=255) ggACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATg > 2:458745/1‑134 (MQ=255) ggACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATg < 1:458745/134‑1 (MQ=255) gACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAg > 2:172442/1‑58 (MQ=255) gACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAg < 1:172442/58‑1 (MQ=255) aCGGCAACCTGGTTGAACGCCAGCGCTTACCCCTTACCGAGCGCAAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAATTGTGGCGTTCAGCg < 2:265539/150‑1 (MQ=255) tGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAATTGTGGCGTTCAGCGTGGGCAAGCAGGa > 2:348362/1‑150 (MQ=255) aCGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTgg < 1:266462/105‑1 (MQ=255) aCGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTgg > 2:266462/1‑105 (MQ=255) aCGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAATTGTGGCGTTCAGCGTGGGCAAGCAGGACgg > 2:50156/1‑150 (MQ=255) aGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCtt > 1:721045/1‑55 (MQ=255) aGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCtt < 2:721045/55‑1 (MQ=255) cccTGACCGAGCGCCAGGAGGCCGCATCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAATTGTGGCGTTCAGCGTGGGCAAGCAGGACGGCCAGTTGACGTTcc > 2:392000/1‑150 (MQ=255) cccTGACCGAGCGCCAGGAGGCCGCATCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAATTGTGGCGTTCAGCGTGGGCAAGCAGGACGGCCAGTTGACGTTcc > 2:392029/1‑150 (MQ=255) gACCGAGCGCCAGGAGGCCGCATCGAAGGCAGCAGGTGACTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAATTGTGGCGTTCAGCGTGGGCAAGCAGGACGGCCAGTTGACGTTCCTGCa < 1:392029/150‑1 (MQ=255) gACCGAGCGCCAGGAGGCCGCATCGAAGGCAGCAGGTGACTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAATTGTGGCGTTCAGCGTGGGCAAGCAGGACGGCCAGTTGACGTTCCTGCa < 1:392000/150‑1 (MQ=255) ccGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAATTGTGGCGTTCAGCGTGGGCAAGCAGGACGGCCAGTTGACGTTCCTGCAGc < 1:24759/150‑1 (MQ=255) ccGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAATTGTGGCGTTCAGCGTGGGCAAGCAGGACGGCCAGTTGACGTTCCTGCAGc < 1:368088/150‑1 (MQ=255) gcCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAATTGTGGCGTTCAGCGTGGGCAAGCAGGACGGCCAGTTGACg < 1:930113/134‑1 (MQ=255) gcCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAATTGTGGCGTTCAGCGTGGGCAAGCAGGACGGCCAGTTGACg > 2:930113/1‑134 (MQ=255) gcCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAATTGTGGCGTTCAGCGTGGGCAAGCAGGACGGCCAGTTGACGTTCCTGCAGCGTCGcc < 1:491738/150‑1 (MQ=255) ccAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAATTGTGGCGTTCAGCGTGGGCAAGCAGGACGGCCAGTTGACGTTCCTGCAGCGTCGccc < 1:1099107/150‑1 (MQ=255) cAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAATTGTGGCGTTCAGCGTGGGCAAGCAGGACGGCCAGTTGACGTTCCTGCAGCGTCGCCCg > 1:1242138/1‑150 (MQ=255) cGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAATTGTGGCGTTCAGCGTGGGAAAGCAGGACGGCCAGTTGACGTTCCTGCAGCGTCGCCCGGCAGAAgg < 2:611177/150‑1 (MQ=255) aGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAATTGTGGCGTTCAGCGTGGGCAAGCAGGACGGCCAGTTGACGTTCCTGCAGCGTCGCCCGGCAGAAGGTGa < 1:166529/150‑1 (MQ=255) | CGCGTCACTTGCTGTTCGACGCCAAGGGCCGGCACGCCTACCTCACCCTGGAAATGAACGCCGAGGTGGTGATGTTCGATGTGCAGGACGGCAACCTGGTTGAACGCCAGCGCTTACCCCTGACCGAGCGCCAGGAGGCCGCAGCGAAGGCAGCAGGTGGCTTGCACCTGTCGGCGGACGGGCGCTTCCTGTACGTGAGCAACCGTGGCACGGCCAATGAAATTGTGGCGTTCAGCGTGGGCAAGCAGGACGGCCAGTTGACGTTCCTGCAGCGTCGCCCGGCAGAAGGTGA > NC_002947/2295038‑2295329 |
| Alignment Legend |
|---|
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: ‑ |