| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913 | 788,374 | C→T | 6.8% | R155H (CGT→CAT) | galM ← | aldose 1‑epimerase; type‑1 mutarotase; galactose mutarotase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913 | 788,374 | 0 | C | T | 6.8% | 187.2 / 3.7 | 59 | R155H (CGT→CAT) | galM | aldose 1‑epimerase; type‑1 mutarotase; galactose mutarotase |
| Reads supporting (aligned to +/- strand): ref base C (25/30); new base T (2/2); total (27/32) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.01e-01 | |||||||||||
ATCAACCGGCAGATATTCGTCCGCCAGAATCTGCAACTTGTGATTGCGCACGTCAGACTGCTCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCAGGGCAAACAGCACCTGACGATCGTTCTGGTTCACAATCTGCCAGCGACGTTTGTCGAAC > NC_000913/788229‑788511 | atcaACCGGCAGATATTCGTCCGCCAGAATCTGCAACTTGTGATTGCGCACGTCAGACTGCTCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGt > 4:342963/1‑149 (MQ=255) aCCGGCAGATATTCGTCCGCCAGAATCTGCAACTTGTGATTGCGCACGTCAGACTGCTCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTAtc < 3:554386/149‑1 (MQ=255) aGATATTCGTCCGCCAGAATCTGCAACTTGTGATTGCGCACGTCAGACTGCTCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGt < 4:469488/149‑1 (MQ=255) tatTCGTCCGCCAGAATCTGCAACTTGTGATTGCGCACGTCAGACTGCTCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTAtcgtc > 4:290574/1‑143 (MQ=255) tatTCGTCCGCCAGAATCTGCAACTTGTGATTGCGCACGTCAGACTGCTCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTAtcgtc < 3:290574/143‑1 (MQ=255) gTCCGCCAGAATCTGCAACTTGTGATTGCGCACGTCAGACTGCTCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGat < 2:135451/149‑1 (MQ=255) ccGCCAGAATCTGCAACTTGTGATTGCGCACGTCAGACTGCTCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCTGACCGACGataa < 4:474411/149‑2 (MQ=255) gCCAGAATCTGCAACTTGTGATTGCGCACGTCAGACTGCTCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTg > 2:371087/1‑149 (MQ=255) gAATCTGCAACTTGTGATTGCGCACGTCAGACTGCTCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCAcc > 3:208254/1‑149 (MQ=255) gAATCTGCAACTTGTGATTGCGCACGTCAGACTGCTCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCAcc > 1:472648/1‑149 (MQ=255) gttGTGATTGCGCACGTCAGACTGCTCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCga < 1:104082/148‑1 (MQ=255) cTTGTGATTGCGCACGTCAGACTGCTCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCga < 2:472648/149‑1 (MQ=255) cTTGTGATTGCGCACGTCAGACTGCTCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCga < 1:379091/149‑1 (MQ=255) ttGTGTTTGCGCACGTCAGACTGCTCGGCGTCAAGATGGAAATCGACGTGATTTGTTTTATTCACCGGGCTAGGTTTATCAACTGTGGCGCGATAAGTACTGGTGCTACGGATATCGTCGATCAGACGATATAGCACCGTCGTGCagag > 2:440990/1‑149 (MQ=255) gATTGCGCACGTCAGACTGCTCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTa > 4:308607/1‑149 (MQ=255) gTCAGACTGCTCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGc > 2:246777/1‑149 (MQ=255) tCAGACTGCTCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGcc > 1:308877/1‑149 (MQ=255) aGACTGCTCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCt < 4:208254/149‑1 (MQ=255) aCTGCTCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGa < 4:461773/149‑1 (MQ=255) aCTGCTCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGa > 3:461758/1‑149 (MQ=255) tGCTCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATATGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATc > 1:566390/1‑149 (MQ=255) tGCTCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATATGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATc > 1:470807/1‑149 (MQ=255) tCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCAcc < 1:482805/149‑1 (MQ=255) gTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACcatcat < 2:497656/149‑1 (MQ=255) tCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCatcatc < 2:424300/149‑1 (MQ=255) tCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCatcatc < 1:440990/149‑1 (MQ=255) cAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCatcatc > 4:24616/1‑148 (MQ=255) cAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCatcatc < 3:24616/148‑1 (MQ=255) aaGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTg > 3:334163/1‑149 (MQ=255) aGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGa < 2:582608/149‑1 (MQ=255) gATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGaa < 4:232651/149‑1 (MQ=255) gATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGaa < 1:402956/149‑1 (MQ=255) aTTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAAc > 4:280077/1‑149 (MQ=255) aTTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAAc > 3:372643/1‑149 (MQ=255) ttGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACt > 1:321929/1‑149 (MQ=255) gAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCa > 2:167614/1‑149 (MQ=255) aaTAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCAgg < 4:5001/149‑1 (MQ=255) aaTAGACGTGATTAGGCATATTCACTGGGCAAGGTTTATCAACTGTGAGGCGATAAGTGATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCAgt < 4:103444/149‑2 (MQ=255) tCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATATGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCAGGGCAAACAGCACCTGa < 2:470807/149‑1 (MQ=255) tCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATATGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCAGGGCAAACAGCACCTGa < 2:566390/149‑1 (MQ=255) tCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCAGGGCAAACAGCACCTGa > 3:343500/1‑149 (MQ=255) tCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCAGGGCAAACAGCACCTGa > 4:241733/1‑149 (MQ=255) aCCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCAGGGCAAACAGCACCTGACGATCGtt > 2:211399/1‑149 (MQ=255) aCCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCCTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCAGGGCAAACAGCACCTGACGATCGtt > 4:447966/1‑149 (MQ=255) gggCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCAGGGCAAACAGCACCTGACGACCGTTCTg < 2:515534/149‑1 (MQ=255) ggCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGAc < 1:433507/60‑1 (MQ=255) ggCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGAc > 2:433507/1‑60 (MQ=255) cAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCAGGGCAAACAGCACCTGACGATCGTTCTGGtt < 2:321929/149‑1 (MQ=255) gTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCAGGGCAAACAGCACCTGACGATCGTTCTGGTTcaca > 2:240531/1‑149 (MQ=255) gTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCAGGGCAAACAGCACCTGACGATCGTTCTGGTTcaca > 3:274615/1‑149 (MQ=255) tttATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCAGGGCAAACAGCACCTGACGATCGTTCTGGTTCACaa < 3:352659/149‑1 (MQ=255) tttATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCAGGGCAAACAGCACCTGACGATCGTTCTGGTTCACaa > 1:274337/1‑149 (MQ=255) aaCTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCAGGGCAAACAGCACCTGACGATCGTTCTGGTTCACAATCTGcc > 4:108611/1‑149 (MQ=255) ggCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCAGGGCAAACAGCACCTGACGATCGTTCTGGTTCACAATCTGCCAGCGAc < 1:471458/149‑1 (MQ=255) cgATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCAGGGCAAACAGCACCTGACGATCGTTCTGGTTCACAATCTGCCAGCGACGttt < 1:167614/149‑1 (MQ=255) tAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCAGGGCAAACAGCACCTGACGATCGTTCTGGTTCACAATCTGCCAACGACGTTTGTc < 3:342963/149‑1 (MQ=255) aaGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCAGGGCAAACAGCACCTGACGATCGTTCTGGTTCACAATCTGCCAGCGACGTTTGTCg < 2:448472/149‑1 (MQ=255) gTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCAGGGCAAACAGCACCTGACGATCGTTCTGGTTCACAATCTGCCAGCGACGTTTGTCGaa < 2:204634/149‑1 (MQ=255) tAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCAGGGCAAACAGCACCTGACGATCGTTCTGGTTCACAATCTGCCAGCGACGTTTGTCGAAc < 4:563749/149‑1 (MQ=255) | ATCAACCGGCAGATATTCGTCCGCCAGAATCTGCAACTTGTGATTGCGCACGTCAGACTGCTCGCCGTCAAGATTGAAATAGACGTGATTAGTCATATTCACCGGGCAAGGTTTATCAACTGTGGCGCGATAAGTAATGGAGATACGGTTATCGTCGGTCAGACGATATTGCACCGTCGCGCCGAGATTACCCGGGAAGCCCTGATCACCATCATCTGAACTCAGGGCAAACAGCACCTGACGATCGTTCTGGTTCACAATCTGCCAGCGACGTTTGTCGAAC > NC_000913/788229‑788511 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 16 ≤ ATCG/ATCG < 34 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |