| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913 | 4,342,193 | A→G | T95A (ACG→GCG) | melA → | alpha‑galactosidase, NAD(P)‑binding |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913 | 4,342,193 | 0 | A | G | 97.4% | 118.1 / ‑6.5 | 39 | T95A (ACG→GCG) | melA | alpha‑galactosidase, NAD(P)‑binding |
| Reads supporting (aligned to +/- strand): ref base A (1/0); new base G (16/22); total (17/22) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.36e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.36e-01 | |||||||||||
GGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACG‑TTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTGCGAGGACATGACGGAAGT > NC_000913/4342048‑4342329 | ggAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCgg < 2:1610/149‑1 (MQ=255)ggAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTg < 2:287836/151‑1 (MQ=255) aaGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGa < 1:495912/150‑1 (MQ=255) atatTGTGGTGCGTAAGCTGATGGATTCAGAAGGGGCCAGGGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCg < 1:497980/150‑1 (MQ=255) gCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAg < 2:617316/151‑1 (MQ=255) cTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGGGACTGATTTCGGGGTCTGTAAGCgg > 1:56369/1‑147 (MQ=255) gATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATgg < 1:143091/150‑1 (MQ=255) ccAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAAACAtt > 1:24555/1‑149 (MQ=255) cGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAAACTTTCGCGGGGACTGTTTTCGAGGGCTGTAAGCGGCATGGTCTGGAACAAACCaattcc > 1:446310/1‑143 (MQ=255) gCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATAc < 2:410204/151‑1 (MQ=255) cAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGGACCTTGCGCGGGGACTGGTTTTGAGGGCTTTAAGCGGCATTGTCTGGGACAAACCATTGCCGATa > 1:424316/1‑149 (MQ=255) aaaaTCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTTCGCGGGGGCTGGTTTCGAGGGCTGTAAGCGGCATGGGTTGGGACAAACCATTGCCGGTACG‑t > 1:337380/1‑151 (MQ=255) aaaaTCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACG‑t < 2:354919/151‑1 (MQ=255) aaaTCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAAACTTGCGCGGGGGCTGGTTTTGAGGGCTGTAAGCGGCATGGGCTGGAACAAACCATTGCCGCTACG‑tt > 2:198172/1‑151 (MQ=255) cAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACG‑TTGGGGCCGGGCGGTATTATgc < 2:556394/151‑1 (MQ=255) cAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACG‑TTGGGGCCGGGCGGTATTATgc < 2:158397/151‑1 (MQ=255) agaaagaaGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACG‑TTGGGGCCGGGCGGTATTATgcg < 1:148752/151‑1 (MQ=255) aagaagCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAAACTTGCGCGGGGACTGATTTCGAGGGCTGTAAGCGGCATGGTCTGGAAAAAACCATTGCCGATACG‑GTGGGGGCGGGCGGGATTATgcg > 1:230649/1‑148 (MQ=255) agaagCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGGTATGAAACTTGGGGGGGGAATGATTTTGAGGGCTGTAAAGGGCATGGGCTGGAACAAAACAATGCCGGTACG‑TTGGGGCCGGGCGGTATTATgcgcg > 1:467164/1‑149 (MQ=255) agCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTTCACGGTGACTTATTTTGAGGGCTTTAAGCGGCATGGTCTGGAAAAAAACCTTGCCGATACG‑TTGGGGCCGGGCGGGATTATgcgcgc > 1:625985/1‑147 (MQ=255) agCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACG‑TTGGGGCCGGGCGGTATTATGCGCGCGCTa < 2:432610/151‑1 (MQ=255) tAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACG‑TTGGGGCCGGGCGGTATTATGCGCGCGCTACGTa < 1:2098/150‑1 (MQ=255) agGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCCTGCGCGGTGACCGATTTTGAGGGCTGTAAAAGGGAAGGGCTGGGACAAAACATTGCCGATAAG‑GTTGGGGCGGGGGGGATTATGCGCGCGCTACGTACCa > 2:394818/1‑150 (MQ=255) aTTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATTAACCTTTCGCGGGGACTGATTTCGAGGTCTGTAAGCGGCAAGGGCTGGAACAAACCATTGCCGATACG‑TTGGGGCCGGGCGGGATTATTCGCGCGCTACGTACCATTccccctc > 1:483527/1‑145 (MQ=255) aTTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACG‑TTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCt < 2:519039/151‑1 (MQ=255) tttGTCGTGGTGGCATTTCAGATTGGCGGTTATTAACCTTGCGCGGGGGCTGATTTCGAGGGCTGTAAGGGGCATGGTCTGGAACAAACCATTGCCGGTACGTTTGGGGCCGGG‑GGGATTAAGCGCGCGCCACCTACCATTCCGcct > 2:244157/1‑145 (MQ=255) tGTCGTGGTGGCATTTCAGATTGGCGGTTATTAACCTGGCGCGGGGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACG‑TTGGGGCCGGGCGGGATTATGCGCGCGCTACGTACCATTCCGCATCtgt > 2:519816/1‑149 (MQ=255) gTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACG‑TTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTgg < 1:290294/150‑1 (MQ=255) gtggtgGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACG‑TTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCaaa < 2:163455/151‑1 (MQ=255) ggCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACG‑TTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTg < 2:412358/150‑1 (MQ=255) ggCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACG‑TTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTg < 1:468421/150‑1 (MQ=255) ttCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACG‑TTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTGCGAgg < 2:515752/150‑1 (MQ=255) cAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACG‑TTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTGCGAGGACa < 2:24555/151‑1 (MQ=255) gATTGGCGGTTATGAACCTTGCGCGGGGACTGGTTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACG‑GTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTGCGAgg > 2:379159/1‑146 (MQ=255) ggCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACG‑TTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTGCGAGGACATGACgg > 2:248782/1‑151 (MQ=255) ggCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACG‑TTGGGGCCGGGCGGTATTATGCGCGCGCTACGTAACATTCCGCATCTGTGGCAAATTTGCGAGGACATGACgg > 2:518533/1‑151 (MQ=255) gCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACG‑TTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTGCGAGGACATGa < 2:553017/147‑1 (MQ=255) cGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACG‑TTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTGCGAGGACATGACGGa > 2:123576/1‑150 (MQ=255) gTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACG‑TTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTGCGAGGACATGACGGAAGt < 1:112947/151‑1 (MQ=255) | GGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACG‑TTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTGCGAGGACATGACGGAAGT > NC_000913/4342048‑4342329 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 16 ≤ ATCG/ATCG < 34 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |