| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913 | 1,903 | G→A | E523K (GAA→AAA) | thrA → | fused aspartate kinase/homoserine dehydrogenase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913 | 1,903 | 0 | G | A | 97.1% | 120.6 / ‑3.7 | 35 | E523K (GAA→AAA) | thrA | fused aspartate kinase/homoserine dehydrogenase 1 |
| Reads supporting (aligned to +/- strand): ref base G (0/1); new base A (12/22); total (12/23) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.98e-01 | |||||||||||
GATGATGCGACCACTGGCGTGCGCGTTACTCATCAGATGCTGTTCAATACCGATCAGGTTATCGAAGTGTTTGTGATTGGCGTCGGTGGCGTTGGCGGTGCGCTGCTGGAGCAACTGAAGCGTCAGCAAAGCTGGCTGAAGAATAAACATATCGACTTACGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGGAAGAACTGGCGCAAGCCAAAGAGCCGTTTAATCTCGGGCGCTTAATTCGCCTCGTGAAAGAATATCATCTGCTGAACCCGGTCATTGTTGACTGCACTTCCAGCCAGGCAGTGGCGGATCAATATGCCGACTTCCTGCGCGAAGGTTTCCACGTTGTCACGCCGAACAAAAAGGCCAACACCTCGTCGATGGATTACTACCATCAGTTGCGTTATGCGGCGGAAAAATCGCGGCGTAA > NC_000913/1672‑2141 | gatgatGCGACCACTGGCGTGCGCGTTACTCATCAGATGCTGTTCAATACCGATCAGGTTATCGAAGCGTTTGTGATTGGCGTCGGTGGCGTTGGCGGTGCGCTGCTGGAGCAACTGAAGCGTCAGCAAAGCTGGCTGAAGAATAAACATATCGACTTACGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTACTCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCa > 2:3312/1‑250 (MQ=255) ggatgCGACCACTGGCGTGCGCGTTACTCATCAGATGCTGTTCAATACCGAGCAGGTTATCGAAGTGTTTGTGATTGGCGTCGGTGGCGTTGGCGGTGCGCTGCTGGAGCAACTGAAGCGTCAGCAAAGCTGGCTGAAGAATAAACATATCGACTTACGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAag < 2:169199/250‑1 (MQ=255) aaCCACTGGCGTGCGCGTTACTCATCAGAGGCTGTTCAATACAGATCAGGTTATCGACGTGTTTGTGATTGGCGTCGGTGGCGTTGGCGGTGCGCTGCTGGAGCAACTGAAGCGTCAGCAAAGCTGGCTGAAGAATAAACATATCGACTTACGTGTCTGCGGTGTTG‑CCAACTCGAACGCTCTACTCCCCCATGTACATGGCCTTAGTCTGGAAAACTGGCAGAAAGAACTGGCTCAAGCCAAAGAGCCGt > 2:140208/2‑251 (MQ=255) cACTGGCGTGCGCGTTGCTCATCAGATGCTGTTCAATACCGATCAGGTTATCGAAGTGTTTGTGATTGGCGTCGGTGGCGTTGGCGGTGCGCTGCTGGAGCAACTGAAGCGTCAGCAAAGCTGGCTGAAGAATAAACATATCGACTTACGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCTAGCCAAAGAGCCGTTTa < 2:293774/251‑1 (MQ=255) cACTGGCGTGCGCGTTACTCATCAGATGCTGTTCAATACCGATCAGGTTATCGAAGTGTTTGTGATTGGCGTCGGTGGCGTTGGCGGTGCGCTGCTGGAGCAACTGAAGCGTCAGCAAAGCTGGCTGAAGAATAAACATATCGACTTACGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTa < 1:175057/251‑1 (MQ=255) tGGCGTGCGAGTTACTCATCAGATGCTGTTCAATACCGATCTGGTTATCGAAGTGTTTGCGATTGGCGTCGGTGGCGTTGGCGGTGCGCTGCTGGAGCAACTGAAGCGTCAGCAACGCTGGCTGTAGAATAAACATATCGCATTACGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACAAGGCCTTACTCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGGGCCGTTTAAtc > 2:344842/1‑251 (MQ=255) cgTTACTCATCAGATGCTGTTCAATACCGATCAGGTTATCGAAGTGTTTGAGATTGCCGTCGGTGGCGTTGGCGGTGCGCTGCTGGAGCAACTGAAGCGTCAGCAAAGCTGGCTGAAGAATAAACAGATCGACTTACGGGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCATAGAGCCGTTTAATCTCGGGCGCt < 1:87877/251‑1 (MQ=255) aCTCATCAGATGCTGTTCAATGCCGATCAGGTTATCGAAGTGTTTGTGATTGGCGTCGGTGGCGTTGGCGGTGCGCTGCTGGAGCAACTGAAGCGTCAGCAAAGCTGGCTGAAGAATAAACATATCGACTTACGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTAATCTCGGGCGCTTAAt < 2:60394/251‑1 (MQ=255) ccGATCAGGTTATCGAAGTGTTTGTGATTGGCGTCGGTGGCGTTGGCGGTGCGCTGCTGGAGCAACTGAAGCGTCAGCAAAGCTGGCTGAAGAATAAACATATCGACTTACGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGGAAGAACTGGCGCAAGCCAAAGAGCCGTTTAATCTCGGGCGCTTAATTCGCCTCGTGAAAGAATatcat < 1:20414/251‑1 (MQ=255) gATTGGCGTCGGTGGCGTGGGCGGTGCGGTGCTGGAGCAACTGAAGCGTCAGCAAAGCTGGCTGAAGAATAAACATATCGACTTACGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATTGCCTGAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCAGTTTAAGCTCTTGCGCGTAATTCGCCTCGTGAGAGAATATCATCTGCTTAACCCTGTCATTGTTGACt < 2:212143/251‑1 (MQ=255) gTGGCGTTGGCGGCGCGCTGCGGGAGCAAGTGAAGGGTCAGCAAAGCTGGCTGAAGAATAAACATAGCGACTTACGTGTCTGCGGT‑TTGTCCAACTCGAAGGCTCCGCCCCCCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGGCAAAGATCCGTTTAAGCGCTGGCGCTGAATTCGCCTCGTGAAAGAATATTAGCGGCTGCACTCGGTCATTCTTTATTGCACTTccagc < 2:157807/251‑1 (MQ=255) gcggtGGCGGTGCGCTGCTGGAGCAACTGAAGCGTCAGCAAAGCTGGCTGAAGAATAAACATATCGACTTACGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTAATCTCGGGCGCTTAATTCGCCTCGTGAAAGAAGATCATCTGCTGAACCCGGTCATTGTTGACTGCACTTccagccag < 2:91547/247‑1 (MQ=255) ggCGGTGCGCTGCTGGAGCAACTGAAGCGTCAGCAAAGCTGGATGAAGAATAAACATATCGACTTACGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTAATCTCGGGCGCTTAATTCGCCTCGTGAAAGAATATCATCTGCTGAACCCGGTCATTGTTGACTGCACTTCCAGCCAGGCAGt < 2:283459/251‑1 (MQ=255) gTGCGCTGCTGGAGCAACTGAAGCGTCAGCAAAGCTGGCTGAAGAATAAACATATCGACTTACGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTAATCTCGGGCGCTTAATTCGCCTCGTGAAAGAATATCATCTGCTGAACCCGGTCATTGTTGACTGCACTTCCAGCCAGGCAGTGGCg < 1:215456/251‑1 (MQ=255) gAAGCGTCAGCAAAGCTGGCTGAAGAATAAACATATCGACTTACGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTAATCTCGGGCGCTTAATTCGCCTCGTGAAAGAATATCATCTGCTGAACCCGGTCATTGTTGACTGCACTTCCAGCCAGGCAGTGGCGGATCAATATGCCGACTTcc < 1:3312/251‑1 (MQ=255) gAAGCGACAGCAAAGCTGGCTGAAGAATAAACAGATCGACTTTCGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTTTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTAAGCTCGGGCGCTTAATTCGCCTCGTGAAAGAATATCATCTGCTGAACCCGGTCATTGTTGACTGCACTTCCAGCCAGGCAGTGGCGGATCAATATGCCGACTTc < 1:331436/250‑1 (MQ=255) gaGCGTCAGCTACGCTGTCTGAAGAATAAGCATATCGACTTACGTGTCTGCGGTATTT‑CCAACTCGAAGGCTCTGCTCTCCAATGTACATGGCCTTAATCTGGAAAACTGTCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTAATCTCGCGCTCTTAATTCGCCTCGTGAAAGAATATCATCTGCTGAACCCGGTCATTGTTGACTGCCCTTCCAGCCAGGCAGTGGCGCATCAATATGCCGACTTCCt < 2:4648/250‑1 (MQ=255) ggcggcAGCAAAGCTGGCTGAAGAATAAACATATCGACCTACGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAAGGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACGGGCGCAAGCCAAAGAGCCGTTTAATCTCGGGCGCTTAATTCGCCTCGGGAAAGAATATCATCTGCTGAACCCGGTCATTGTTGACTGCACTGCCAGCCAGGCAGTGGCGGAGCAATATGCCGACGTCCTg < 2:164280/246‑1 (MQ=255) gaaTAAACATATCGACTTACGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTAATCTCGGGCGCTTAATTCGCCTCGTGAAAGAATATCATCTGCTGAACCCGGTCATTGTTGACTGCACTTccag < 2:291847/195‑1 (MQ=255) gaaTAAACATATCGACTTACGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTAATCTCGGGCGCTTAATTCGCCTCGTGAAAGAATATCATCTGCTGAACCCGGTCATTGTTGACTGCACTTccag > 1:291847/1‑195 (MQ=255) aTAAACATATCGACTTACGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTaa < 2:44660/121‑1 (MQ=255) aTAAACATATCGACTTACGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTaa > 1:44660/1‑121 (MQ=255) tAAACATATCGACTTACGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTAATCTCGGGCGCTTAATTCGCCTCGTGAAAGAATATCATCTGCTGAACCCGGTCATTGTTGACTGCACTTCCAGCCAGGCAGTGGCGGATCAATATGCCg > 1:119279/1‑218 (MQ=255) tAAACATATCGACTTACGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTAATCTCGGGCGCTTAATTCGCCTCGTGAAAGAATATCATCTGCTGAACCCGGTCATTGTTGACTGCACTTCCAGCCAGGCAGTGGCGGATCAATATGCCg < 2:119279/218‑1 (MQ=255) aaCATATCGACTTACGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTAATCTCGGGCGCTTAATTCGCCTCGTGAAAGAATATCATCTGCTGAACCCGGTCATTGTTGACTGCACTTCCAGCCAGGCAGTGGCGGATCAatat > 2:350280/1‑212 (MQ=255) aaCATATCGACTTACGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTAATCTCGGGCGCTTAATTCGCCTCGTGAAAGAATATCATCTGCTGAACCCGGTCATTGTTGACTGCACTTCCAGCCAGGCAGTGGCGGATCAatat < 1:350280/212‑1 (MQ=255) tgtCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTAATCTCGGGCGCTTAATTCGCCTCGTGAAAGAATATCATCTGCTGAACCCGGTCATTGTTGACTGCACTTCCAGCCAGGCAGTGGCGGATCAata < 2:103805/195‑1 (MQ=255) tgtCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTAATCTCGGGCGCTTAATTCGCCTCGTGAAAGAATATCATCTGCTGAACCCGGTCATTGTTGACTGCACTTCCAGCCAGGCAGTGGCGGATCAata > 1:103805/1‑195 (MQ=255) gtCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTAATCTCGGGCGCTTAATTCGCCTCGTGAAAGAATATCATCTGCTGAACCCGGTCATTGTTGACTGCACTTCCAGCCAGGCAGTGGCGGATCAATATGCCGACTTCCTGCGCGAAGGTTTCCACGTTGTCACGCCGAACAAAAAGGCCAaca < 2:178980/250‑1 (MQ=255) cTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTAATCTCGGGCGCTTAATTCGCCTCGTGAAAGAATATCATCTGCTGAACCCGGTCATTGTTGACTGCACTTCCAGCCAGGCAGTGGCGGATCAATATGCCGACTTCCTGCGCGAAGGTTTCCACGTTGTCACGCCGAACAAAAAGGCCAACACCTCGTCGATGGATtact > 1:85894/1‑251 (MQ=255) tGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTAATCTCGGGCGCTTAATTCGCCTCGTGAAAGAATATCATCTGCTGAACCCGGTCATTGTTGACTGCACTTCCAGCCAGGCAGTGGCGGATCAATATGCCGACTTCCTGCGCGAAGGTTTCCACGTTGTCACGCCGAACAAAAAAGCCAACACCTCGTCGATGGATTACTACCATCAGttt > 2:37962/1‑250 (MQ=255) gCTCCCCAATTTACATGGCCTTAATCTGGAAAACGGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTAATCTCGGGCGCTTAATTCGCCCCGTGAAAGAATATCATCTGCTGAACCCGGTCATTGTTGACTGCACTTCCAGCCAGGCAGTGGCGGATCAATATGCCGACTTCCTGCGCGAAGGTTTCCACGTTGTCACGCCGAACAAAAAGGCCAACACCTCGTCGATGGATTACTACCATCAGTTg < 2:196948/250‑1 (MQ=255) tCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTAATCTCGGGCGCTTAATTCGCCTCGTGAAAGAATATCATCTGCTGAACCCGGTCATTGTTGACTGCACTTCCAGCCAGGCAGTGGCGGATCCATATGCCGACTTCCTGCGCGAAGGTTTCCACGTTGTCACGCCGAACAAAAAGGCCTACACCTCGTCGATGGATTACTACCATCCGTTGCGt > 1:171687/1‑251 (MQ=255) tCTGGAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTAATCTCGGGCGCTTAATTCGCCTCGTGAAAGAATATCATCTGCTGAACCCGGTCATTGTTGACTGCACTTCCAGCCAGGCAGTGGCGGATCAATATGCCGACTTCCTGCGCGAAGGTTTCCACGTTGTCACGCCGAACAAAAAGGCCAACACCTCGTCGATGGATTACTACCATCAGTTGCGTTATGCGGCGGAAAAATCgcggc > 1:67720/1‑251 (MQ=255) gAAAACTGGCAGAAAGAACTGGCGCAAGCCAAAGAGCCGTTTAAGCTCGGGCGCTTAATTCGCCTCGTGAAAGAATATCATCTGCTGAACCCGGTCATTGTTGACTGCACTTCCAGCCAGGCAGTGGCGGATCAATATGCCGACTTCCTGCGCGAAGGTTTCCACGTTGTCACGCCGAACAAAAAGGCCAACACCTCGTCGATGGATTACTACCATCAGTTGCGTTATGCGGCGGAAAAATCGCGGCGTaa < 2:14663/251‑1 (MQ=255) | GATGATGCGACCACTGGCGTGCGCGTTACTCATCAGATGCTGTTCAATACCGATCAGGTTATCGAAGTGTTTGTGATTGGCGTCGGTGGCGTTGGCGGTGCGCTGCTGGAGCAACTGAAGCGTCAGCAAAGCTGGCTGAAGAATAAACATATCGACTTACGTGTCTGCGGTGTTG‑CCAACTCGAAGGCTCTGCTCACCAATGTACATGGCCTTAATCTGGAAAACTGGCAGGAAGAACTGGCGCAAGCCAAAGAGCCGTTTAATCTCGGGCGCTTAATTCGCCTCGTGAAAGAATATCATCTGCTGAACCCGGTCATTGTTGACTGCACTTCCAGCCAGGCAGTGGCGGATCAATATGCCGACTTCCTGCGCGAAGGTTTCCACGTTGTCACGCCGAACAAAAAGGCCAACACCTCGTCGATGGATTACTACCATCAGTTGCGTTATGCGGCGGAAAAATCGCGGCGTAA > NC_000913/1672‑2141 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 15 ≤ ATCG/ATCG < 33 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |