| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913 | 4,342,666 | 0 | C | T | 75.0% | 51.4 / 19.3 | 36 | Y252Y (TAC→TAT) | melA | alpha‑galactosidase |
| Reads supporting (aligned to +/- strand): ref base C (6/3); new base T (11/16); total (17/19) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 2.55e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.44e-01 | |||||||||||
| Rejected as consensus: Frequency below/above cutoff threshold. | |||||||||||
AGGTCGGGCTGTGCCATTCGGTGCAGGGAACGGCGGAAGAGTTGGCGCGTGACCTCAATATCGACCCAGCTACGCTGCGTTACCGTTGCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTATGTGAATCTCTACCCGGAACTGCTGGCGGCTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAACTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGTCACGGGAATATGCCAGCACAATCATGAACGCTAT > NC_000913/4342416‑4342914 | aggccggcgtgtcccATCCGGTGCGGGGACCGGCGGAAGAGTTGGCTCGTGACCCCAAAACCACCCCAGCGACGTTCCGTTACCTTTGCCCAGGTTTCAACCATATGGCGTTTTCCCTGGAGCGGGAGCGCAAAACCGCCGACGGCATTTATGTGAATCTCTACCCGGAACTGCTGGCGGCTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTAc < 2:227305/238‑1 (MQ=255) cTGTGCCATTCGGTGCAGGGAACGGCGGAAGAGCTGGCGCGTGACCTCAATATCGACCCGGCTACGCTGCGTTACCGTTGCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTACGTGAATCTCTACCCGGAACTGCTGGCGGCTCATGACGCAGGGCAGGCACCGAAGCCGAATATTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTATGAAATGtt > 1:13038/1‑251 (MQ=255) ttCGGTGGAGGGACGGGCGAAAGAGCTGGCGCGTGACCTCAATATCGCCCCGGCTCCGCTGCGTTACCGTTGCGCAGGTAGCACCCATATGGCGTTTGACCGGGAGCTGGAGCGCAAAGCCGCCGACGGCAGTTACGTGAATCTCTACCCGGAACTGCTGGCGGCTCATGACGCAGGGCAGTCACCGAAGCCGAATATTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTATGAAATGTTCaaaaa < 1:29744/249‑1 (MQ=255) tGCAGGGAACGGCGGAAGAGCTGGCGCGTGACCTCAATATCGACCCGGCTACGCTGCGTTACCGTTGCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTACGTGAATCTCTACCCGGAACTGCTGGCGGCTCATGACGCAGGGCAGGCACCGAAGCCGAATATTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTATGAAATGTTCAAAAAGCTGGGc > 1:163523/1‑251 (MQ=255) ggcggAAGAGTTGGCGCGTGACCTCAATATCGACCCAGCTACGCTGCGTTACCGTTGCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTATGTGAATCTCTACCCGGAACTGCTGGCGGCTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTc > 1:371636/1‑250 (MQ=255) gcggAAGAGCTGGCGCGTGACCTCAATATCGAACCGGCTACGCTGCGTTACCGTTGCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTACGTGAATCTCTACCCGGAACTGCTGGCGGCTCATGACGCAGGGCAGGCACCGAAGCCGAATATTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTATGAAATGTTCAAAAAGCTGGGCTACTTCGTCAc > 1:246955/1‑251 (MQ=255) cggAAGAGTTGGCGAGTGACCTCAATATCGACCCAGCTACGCTGCGTTACCGTTGCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTATGTGAATCTCTACCCGGAACTGCTGGCGGCTTATGAAGCAGGGCAGGCACCGAAGCCGCATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACg > 1:309342/1‑251 (MQ=255) gAAGAGTTGGCGCGTGACCTCAATATCGACCCAGCTACGCTGCGTTACCGTTGCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTATGTGAATCTCTACCCGGAACTGCTGGCGGCTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACgg > 1:172425/1‑250 (MQ=255) aCCCGGCTACGCTGCGTTACCGTTGCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTACGTGAATCTCTACCCGGAACTGCTGGCGGCTCATGACGCAGGGCAGGCACCGAAGCCGAATATTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTATGAAATGTTCAAAAAGCTGGGCTACTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTacac > 1:70457/1‑250 (MQ=255) cTGCGTTACCGTTGCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTACGTGAATCTCTACCCGGAACTGCTGGCGGCTCATGACGCAGGGCAGGCACCGAAGCCGAATATTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTATGAAATGTTCAAAAAGCTGGGCTACTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTttat > 1:176370/1‑251 (MQ=255) gCGTTCCCGTTGCGCAGGTACCAACCATATGGCGTTTTCCCGGGAGCTGGAGCGCAAACCCGCCGACGGCAGTTACGTGAATCTCTACCCGGAACTGCTGGCGGCTCATGACGCAGGGCAGGCACCGAAGCCGAATATTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTATGAAATGTTCAAAAAGCTGGGCTACTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTttatga < 2:305568/251‑3 (MQ=255) gTTACCGTTGCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTACGTGAATCTCTACCCGGAACTGCTGGCGGCTCATGACGCAGGGCAGGCACCGAAGCCGAATATTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTATGAAATGTTCAAAAAGCTGGGCTACTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTttatta > 1:133140/1‑249 (MQ=255) tCAACCATAGGGCGTTTTCCCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTACGTGAATCTCTACCCGGAACTGCTGGCGGCTCATGACGCAGGGCAGGCACCGAAGCCGAATATTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTATGAAATGTTCAAAAAGCTGGGCTACTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGAttt < 1:319166/250‑1 (MQ=255) tACCTGGAGCAGGAGCCCAAAAACGCCGACGACAGTTCCGTGAATCTCTACCCGGAAATGCTGGAGGCTCATGACGCCGGGCAGGAACCGAAGCCGCATATTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTCTGAAATGTTAATAAAGCTGGGATACTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTAAACACCGTGGTTTATTAAGCCCGGTCGTGAGGATttgattacgagttataa > 2:401006/1‑237 (MQ=255) ggagcgggaccGAAAAACCGCCGACGGCAGTTATGTGAATCTCTACCCGGAACTGCTGGCGGCTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTAcc < 2:371636/249‑1 (MQ=255) ccgccgccgGCAGTTATGTGAATCTCTACCCGGAACTGCTGGCGGCTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGCACATTTTGCTGAGTACACACCGTGGTTTATTAGGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCgga > 2:103156/1‑248 (MQ=255) gccgACGGCAGTTACGTGAATCTCTACCCGGAACTGCTGGCGGCTCATGACGCAGGGCAGGCACCGAAGCCGAATATTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTATGAAATGTTCAAAAAGCTGGGCTACTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCg < 1:73858/180‑1 (MQ=255) gccgACGGCAGTTACGTGAATCTCTACCCGGAACTGCTGGCGGCTCATGACGCAGGGCAGGCACCGAAGCCGAATATTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTATGAAATGTTCAAAAAGCTGGGCTACTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCg > 2:73858/1‑180 (MQ=255) gACGGCAGTTACGTGAATCTCTACCCGGAACTGCTGGCGGCTCATGACGCAGGGCAGGCACCGAAGCCGAATATTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTATGAAATGTTCAAAAAGCTGGGCTACTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAg > 2:341153/1‑213 (MQ=255) gACGGCAGTTACGTGAATCTCTACCCGGAACTGCTGGCGGCTCATGACGCAGGGCAGGCACCGAAGCCGAATATTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTATGAAATGTTCAAAAAGCTGGGCTACTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAg < 1:341153/213‑1 (MQ=255) aGTTACGTGAATCTCTACCCGGAACTGCTGGCGACTCATGACGCAGGGCAGGCACCGAAGCCGAATATTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTATGAAATGTTCAAAAAGCTGGGCTACTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCg > 1:376888/1‑250 (MQ=255) acgtgAATCGCTACCCGGAACTGCTGGCGGCTCACGACGCAGGGCAGGCACCGAAGCCGAATATTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTATGAAATGTTCAAAAAGCTGGGCGACTTCGTCACGGATTCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTAACGCTGTATGAGTACCCGAAACGCCGCTTCGagca < 2:148083/248‑1 (MQ=255) aCCCGGAACTGCTTGCGGCTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACACGCTGCCAGAATATTGTGGGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAAGCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAACTg < 2:320746/250‑1 (MQ=255) cGGAACTGCTGGCGGCTCATGACGCAGTGCAGGCACCGAAGCCGAATATTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTATGAAATGTTCAAAAAGCTGGGCTACTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAACTGGCAt < 2:302838/251‑1 (MQ=255) aCTGCTGGCGGCTCATGACGCAGGGCAGGCACCGAAGCCGAATATTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTATGAAATGTTCAAAAAGCTGGGCTACTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAACTGGCATAAag < 2:122049/251‑1 (MQ=255) ggcggcTCATGACGCAGGGCGGGCACCGAAGCCGAATATTCACGGCAATACGCGCTGCCAGAATATTGTGCGCTATGAAATGTTCAAAAAGCTGGGCTACTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAACTGGCATAAAGAGCt < 2:385711/249‑1 (MQ=255) caTGACGCAGGGCAGGCACCGAAGCCGAATATTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTATGAAATGTTCAAAAAGCTGGGCTACTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAACTGGCATAAAGAGCTGGAGGAGta < 1:355684/250‑1 (MQ=255) caTGACGCAGGGCAGGCACCGAAGCCGAATATTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTATGAAATGTTCAAAAAGCTGGGCTACTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAACTGGCATAAAGAGCTGGAGGAGta < 1:143405/250‑1 (MQ=255) gacgcagggcaggCACCGAAGCCGAATATTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTATGAAATGTTCAAAAAGCTGGGCTACTTCGTCACGGAATCGTCAGAACATTGTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATGGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGGCGAGCAGCTGGCGAACTGGCATAAAGAGCTGGAGGGGTATaa < 1:277943/248‑1 (MQ=255) cccGAAGCCGAATATTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTATGAAATGTTCAAAAAGCTGGGCTACTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTTGATGAGGACCCGAAACGCGTCGTCTAACAGCTGGCGAACTGGCATAAAGATCGGGATGTGTATAAACACGCCGCCCGGa < 2:246955/250‑1 (MQ=255) ccGAAGCCGAATATTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTATGAAATGTTCAAAAAGCTGGGCTACTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAACTGGCATAAAGAGCTGGAGGAGTATAAAAACGCCTCCCGGAt < 1:356933/251‑1 (MQ=255) atatTCACGGCAATACTCGCTGCCAGAATATTGTGCGCTATGAAATGTTCAAAAAGCTGGGCTACTTCGTCACGGAAGCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAACTGGCATAAAGAGCTGGAGGAGTATAAAAACGCCTCCCGGATTGATATTaaa < 2:70457/251‑1 (MQ=255) aTACTCGCTGCCAGAATATTGTGCGCTACGCAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGATGAGAACACACCGTGGTTTATTAAGCCAGGTCGTGCGGATTTGATTGAGAGTTCTAAAGTACCGCTGGGTGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAACTGGCATAAAGAGCt > 1:381599/1‑202 (MQ=255) cTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACTGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAACTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGTCACGGGAatat > 1:92612/1‑251 (MQ=255) tCGCTGCCAGCATATTGTGCGCTATGAAATGTTCAAAAAGCTGGGCAACTTTGTCACGGAATCGTCAGAACATTTTGCTGAGTACAAACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATAGAGCGTTATAAAGAACCGCTGGATGAGTACACGAAACGAGGCGTAGAGAAGCTGGAGAACTGGCATAAAGAGATGGAGGAGGATAAAAACGCATCAAGGATTGAAATGAAACCGGCAAGGGAatagg > 1:158829/1‑249 (MQ=255) atTGTGCGCTATGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACTCCGTGGTGTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCTCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAACTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGTCACGGGAATATGCCAGCAAAATCAt < 2:368696/251‑1 (MQ=255) aCGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAACTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGTCACGGGAATATGCCAGCACAATCATGAACGCTAt < 1:301247/250‑1 (MQ=255) | AGGTCGGGCTGTGCCATTCGGTGCAGGGAACGGCGGAAGAGTTGGCGCGTGACCTCAATATCGACCCAGCTACGCTGCGTTACCGTTGCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTATGTGAATCTCTACCCGGAACTGCTGGCGGCTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAACTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGTCACGGGAATATGCCAGCACAATCATGAACGCTAT > NC_000913/4342416‑4342914 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 15 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |