Predicted mutation | ||||||
---|---|---|---|---|---|---|
evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913 | 262,313 | C→T | P271S (CCC→TCC) | proA → | glutamate‑5‑semialdehyde dehydrogenase |
Read alignment evidence... | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913 | 262,313 | 0 | C | T | 98.1% | 166.8 / NA | 52 | P271S (CCC→TCC) | proA | glutamate‑5‑semialdehyde dehydrogenase |
Reads supporting (aligned to +/- strand): ref base C (0/0); major base T (24/27); minor base G (1/0); total (25/27) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 4.81e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 |
GTTGATGAAAGTGTAGAGATCGCTGAAGCATTAAAAGTGATCGTCAACGCGAAAACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGCCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGCAGGCAGGCCCTGCGAAGGTGGTTGCTGTTAAAGCCGAAGAGTATGACGATGAGTTT > NC_000913/262187‑262441 | gTTGATGAAAGTGTAGAGATCGCTGAAGCATTAAAAGTGATCGTCAACGCGAAAACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCAt < 1:96976/133‑1 (MQ=255) gTTGATGAAAGTGTAGAGATCGCTGAAGCATTAAAAGTGATCGTCAACGCGAAAACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCAt > 1:265016/1‑133 (MQ=255) gatgaAAGGGTAGAGATCGCTGAAGCATTAAAAGTGATCGTCAACGCGAAAACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTaa > 2:425292/1‑133 (MQ=255) atgaAAGTGTAGAGATCGCTGAAGCATTAAAAGTGATCGTCAACGCGAAAACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAg > 2:335022/1‑133 (MQ=255) tgaAAGTGTAGAGATCGCTGAAGCATTAAAAGTGATCGTCAACGCGAAAACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGc > 1:381630/1‑133 (MQ=255) agagATCGCTGAAGCATTAAAAGTGATCGTCAACGCGAAAACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATg > 2:309090/1‑133 (MQ=255) agagATCGCTGAAGCATTAAAAGTGATCGTCAACGCGAAAACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGAGAGCTTCCTGTCTGCGTTAAGCGAACAAATg > 1:238813/1‑133 (MQ=255) aTCGCTGAAGCATTAAAAGTGATCGTCAACGCGAAAACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAACTTACTGGCCGCATTAAGCAAACAAATGGCgg > 2:196018/1‑133 (MQ=255) gCTGAAGCATTAAAAGTGATCGTCAACGCGAAAACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGcaaacaaa > 2:405324/1‑124 (MQ=255) gCTGAAGCATTAAAAGTGATCGTCAACGCGAAAACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGcaaacaaa < 1:405324/124‑1 (MQ=255) gCTGAAGCATTAAAAGTGATCGTCAACGCGAAAACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGaaa > 2:98586/1‑133 (MQ=255) gCTGAAGCATTAAAAGTGATCGTCAACGCGAAAACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGaaa > 1:366766/1‑133 (MQ=255) gCATTAAAAGTGATCGTCAACGCGAAAACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAgcggcg < 1:276899/133‑1 (MQ=255) aTTAAAAGTGATCGTCAACGCGAATACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTg < 2:169907/133‑1 (MQ=255) ttAAAAGTGATCGTCAACGCGAAAACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGa > 1:362899/1‑133 (MQ=255) ttAAAAGTGATCGTCAACGCGAAAACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGa > 1:367421/1‑133 (MQ=255) ttAAAAGTGATCGTCAACGCGAAAACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGa > 1:348338/1‑133 (MQ=255) aaGTGATCGTCAACGCGAAAACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACAtt < 2:392887/133‑1 (MQ=255) gTCAACGCGAAAACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGACAGCAGCTTGACATCACACGCAg > 1:216959/1‑133 (MQ=255) tCAACGCGAATACTCGGCGTCCGAGCTCATGTAATACGGTTCAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGa < 2:235333/133‑1 (MQ=255) tCAACGCGAAAACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGTTAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGa < 2:375211/133‑1 (MQ=255) cgcgAAAACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCa > 2:429938/1‑133 (MQ=255) gcgAAAACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAg < 2:366766/133‑1 (MQ=255) gCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGgcg < 1:335022/133‑1 (MQ=255) gCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGgcg < 1:309090/133‑1 (MQ=255) gCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGgcg < 2:362899/133‑1 (MQ=255) gCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGgcg < 1:98586/133‑1 (MQ=255) gAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTg < 1:126518/133‑1 (MQ=255) gTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGcaggcagg < 2:265016/133‑1 (MQ=255) gTAATACGGACGAAACGTTGCTGGTGAACAAATACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGcaggcagg < 2:238813/133‑1 (MQ=255) tACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACGGGCACAATTGCAGTCAGGCCCt > 1:219673/1‑133 (MQ=255) gTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGCAGGCAGGCCCTGCGa > 2:441438/1‑133 (MQ=255) gTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGCAGGCAGGCCCTGCGa > 2:93137/1‑133 (MQ=255) aCGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGCAGGCAGGCCCTGCGAAggtgg < 1:425292/133‑1 (MQ=255) gTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGCAGGCAGGCCCTGCGAAGGTGGtt < 2:67308/133‑1 (MQ=255) ttGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGCAGGCAGGCCCTGCGAAGGTGGTTg < 2:344398/133‑1 (MQ=255) tGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCGGCACTGGCTCAGGTGCGGGCAGGCCGTGCGGAGGTGGTTGc > 2:146841/1‑133 (MQ=255) gTGAATAAAAACATCCCCGATAGCTTCCCGTCCGCATTAAGGAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGCAGGCAGGCCCTGCGAAGGTGGTTGCTGTTa < 2:195975/133‑1 (MQ=255) aTAAAAACATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGCAGGCAGGCCCTGCGAAGGTGGTTGCTGTTAAAGc > 2:58075/1‑133 (MQ=255) tAAAAACATCGCCGGTAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGCAGGCAGGCCCTGCGAAGGTGGTTGCTGTTAAAGcc > 2:329810/1‑133 (MQ=255) aaaaaCATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGCAGGCAGGCCCTGCGAAGGTGGTTGCTGTTAAAGCCg < 1:441438/133‑1 (MQ=255) aaaaaCATAGCCGCTTGCGTCCGGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGCAGGCAGGCCCTGCGAAGGTGGTTGCTGTTAAAGCCg < 1:218902/133‑1 (MQ=255) aaaCATCGCCGATAGGTTACTGTCCGCATTCAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGCAGGCAGGCCCTGCGAAGGTGGTTGCTGTTAAAGCCGaa < 1:146841/133‑1 (MQ=255) aaaCATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGCAGGCAGGCCCTGCGAAGGTGGTTGCTGTTAAAGCCGaa < 1:93137/133‑1 (MQ=255) aaaCATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGCAGGCAGGCCCTGCGAAGGTGGTTGCTGTTAAAGCCGaa < 2:443022/133‑1 (MQ=255) aaaCATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGCAGGCAGGCCCTGCGAAGGTGGTTGCTGTTAAAGCCGaa > 1:443022/1‑133 (MQ=255) aCATCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGCAGGCAGGCCCTGCGAAGGTGGTTGCTGTTAAAGCCGAaga < 1:331240/133‑1 (MQ=255) aTCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGCAGGCAGGCCCTGCGAAGGTGGTTGCTGTTAAAGCCGAAGAGt < 2:23844/133‑1 (MQ=255) tCGCCGATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGCTGCAGGCAGGCCCTGCGAAGGTGGTTGCTGTTAAAGCCGAAGAGTa > 1:329226/1‑133 (MQ=255) gATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGCAGGCAGGCCCTGCGAAGGTGGTTGCTGTTAAAGCCGAAGAGTATGACg > 2:356828/1‑133 (MQ=255) gATAGCTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGCAGGCAGGCCCTGCGAAGGTGGTTGCTGTTAAAGCCGAAGAGTATGACg < 2:348338/133‑1 (MQ=255) cTTCCTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGCAGGCAGGCCCTGCGAAGGCGGTTGCTGTTAAAGCCGAAGAGTATGACGATGAg > 2:411045/1‑133 (MQ=255) ccTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGCAGGCAGGCCCTGCGAAGGTGGTTGCTGTTAAAGCCGAAGAGTATGACGATGAGttt < 1:58075/133‑1 (MQ=255) ccTGTCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGCAGGCAGGCCCTGCGAAGGTGGTTACTGTTAAAGCCGAAGAGTATGTCGATGAGttt > 2:178960/1‑133 (MQ=255) | GTTGATGAAAGTGTAGAGATCGCTGAAGCATTAAAAGTGATCGTCAACGCGAAAACTCAGCGTCCGAGCACATGTAATACGGTTGAAACGTTGCTGGTGAATAAAAACATCGCCGATAGCTTCCTGCCCGCATTAAGCAAACAAATGGCGGAAAGCGGCGTGACATTACACGCAGATGCAGCTGCACTGGCGCAGTTGCAGGCAGGCCCTGCGAAGGTGGTTGCTGTTAAAGCCGAAGAGTATGACGATGAGTTT > NC_000913/262187‑262441 |
Alignment Legend |
---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 15 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |