| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913 | 1,697,375 | T→C | Q222Q (CAA→CAG) | hdhA ← | 7‑alpha‑hydroxysteroid dehydrogenase, NAD‑dependent |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913 | 1,697,375 | 0 | T | C | 98.4% | 190.5 / NA | 61 | Q222Q (CAA→CAG) | hdhA | 7‑alpha‑hydroxysteroid dehydrogenase, NAD‑dependent |
| Reads supporting (aligned to +/- strand): ref base T (0/0); major base C (36/24); minor base G (0/1); total (36/25) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.10e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
ACAACACGCACGGTTGTTTACCGGTCCGTTAGTGTATTAATTGAGCTCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCTTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAGGGCATCGGTTAATATTGCCCCCGGCGCAATGCCATTTACCCGAATATTTTTTTCACCCAGGT > NC_000913/1697237‑1697514 | cccacacGCACGGTTGTTTACCGGTCCGTTAGTGTATTAATTGAGCTCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCg < 1:555751/140‑1 (MQ=255)acaacaCGCACGGTTGTTTACCGGTACGTTAGTGAATGAATTGAGCTCCTGTACCCCTCCACCGGGGACGGTCAGAACGTGTCCGCTTACCCAGCTCGCACAAGGCGCGCACAGGAACAGCGCTGCGTTAGCAATATACTGCg > 2:57500/1‑143 (MQ=255) caacaCGCACGGTTGTTTACCGGTCCGTTAGTGTATTAATTGAGCTCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCgg > 1:618384/1‑143 (MQ=255) cacgcacgGTTGTTTACCGGTCCGTTAGTGTATTAATTGAGCTCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTg < 1:517490/143‑1 (MQ=255) acgcacgGTTGTTTACCGGTCCGTTAGTGTATTAATTGAGCTCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTgg < 2:973575/143‑1 (MQ=255) cacgGTTGTTTACCGGTCCGTTAGTGTATTAATGGAGCTCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAACGGAACAGCGCTGCGTTAGCAGTCTCCTGCGGttagatc > 2:1018046/1‑138 (MQ=255) ggTTGTTTACCGGTCCGTTAGTGTATTAATTGAGCTCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTCCGGTTGGCCCAGa > 1:583415/1‑143 (MQ=255) gttgttTACCGGTCCGTTAGTGTATTAATTGAGCTCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGAc > 1:496804/1‑143 (MQ=255) gttgttTACCGGTCCGTTAGTGTATTAATTGAGCTCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGAc < 1:370292/143‑1 (MQ=255) gttTACCGGTCCGTTAGTGTATTAATTGAGCTCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTCCCCAGCCCGCAGCAGGCGAGCGAAAGAAAAGCGCTGCGATATCACTGTCCAGCGGTTGGCTCAGACGTc > 2:746114/1‑143 (MQ=255) aCCGGTCCGTTAGTGTATTAATTGAGCTCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGAt > 1:1088376/1‑143 (MQ=255) aCCCGTCCGTTAGTGTATTTATTGATCTCCTGTACCCCACCACCGGAGACGGTGAAAATATATCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGAt < 2:408075/143‑1 (MQ=255) cGTTAGTGTATTAATTGAGCTCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGCTCGCCgtg > 1:134855/1‑143 (MQ=255) gTTAGTGTATTAATTGAGCTCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGCCGCGCAAAGGCACAGCGATGCGTTAGCATTATCCTGCGGTTGGCCCAGACGTCGGATCGGCgcga > 2:478055/1‑140 (MQ=255) gtAGTGTATTAATTGATCTCTGGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGtgtg < 2:967322/142‑1 (MQ=255) aGTGTATTAATTGAGCTCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCt < 1:461457/143‑1 (MQ=255) tATTAATTGAGCTCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGTTTGGCCCAGACGTCTGATCGGCGTGTGCTGtct > 1:519305/1‑141 (MQ=255) tATTAATTGAGCTCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTaa > 1:835754/1‑143 (MQ=255) taGCGCCTGCCCCCCCCCCCCGGACACGGTGAGAATTTGTCCGCTTACCGAGCTCGCAGCAGTCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTTATCGGCGTGTGCTGTAACAtttttt < 2:776691/142‑1 (MQ=255) gaccgccTGTACCCCACCACCGGAGACGGTGAGAATTGGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAAGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACAtttttt < 1:504158/138‑1 (MQ=255) gcgccTGGACGCCACCACGGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACGGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGt < 1:883415/140‑1 (MQ=255) tCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGCCGTCTGGTCGGCGTCTGCTGTAGCATTTTTTGTTc > 1:760167/1‑143 (MQ=255) ccTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCATACCCAGCTCGCAGCAGGCGCGCAAAGGAACAGCACAGCGCTAGCAATAGCCTGCGGTTGGCCTAGACGTCTACTCACCGTGTGCTGGAACGTTTTTTgggca > 2:283998/1‑139 (MQ=255) ccTGTACCCCACCACCGGAGACGGCGAGAATTTGTCCGATTACCCAGCTCGCAGCAGGAGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGAGGCCTGATAGGCGCGGGCTGTAACAtcttcggtgcc > 2:1030635/1‑136 (MQ=255) cTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATGCTGCCGTTGGCCCAGAGTTCTCATAGGCGTGTGCTATAACATTTTTTGTTcga > 2:648919/1‑141 (MQ=255) tGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAAt < 2:943693/143‑1 (MQ=255) gTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAAtt > 1:433322/1‑143 (MQ=255) ccccACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGGTCAATTTCt > 1:66492/1‑143 (MQ=255) cccACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTg < 1:1093186/143‑1 (MQ=255) tcacctcCGGAGACGGGGAGAATTTGTTCGTTTACCCTGCTCTCAGCAGGCGGGCAAAGGAACAGCGCTGCCTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTgg < 2:751469/142‑1 (MQ=255) ccaccaCCGGAGACGGTGAGAATTTGTCCGCTTACCCCGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTgg < 1:1035443/143‑1 (MQ=255) caccacCGGAGGCGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAAAAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGGGCTGTGCCAGTGTTTGTGCAATTTCTgga > 1:1045899/1‑142 (MQ=255) gagaCGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACCTTTTTTGTTCAATTTCTGGTGTAATAAc > 2:671458/1‑143 (MQ=255) agaCGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAAGATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACg < 2:212835/143‑1 (MQ=255) ggTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGAtt < 1:499517/143‑1 (MQ=255) gTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACACTTTTTGTTCAATTGCTGGTGTAATAACGGAttt > 2:662535/1‑143 (MQ=255) tGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGAGTTc > 2:60835/1‑143 (MQ=255) gaATCTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAgg < 1:569111/143‑1 (MQ=255) aaTTTGTCCGCTTACCCAGCGCGCCGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAggg < 1:53509/143‑1 (MQ=255) tttGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCCTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATACCGGATCTCAGGCCa > 2:201710/1‑143 (MQ=255) gCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTCCAATTTCTCGTGTAATAACGGATTTCAGGGCATCGGTTa > 2:662456/1‑143 (MQ=255) gCTCACCCCGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAGGGCATCGGTTa < 1:145663/143‑1 (MQ=255) tACCCAGCTCGCAGCAGGTCGTCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAGGGCATCGGTTAata < 1:427765/143‑1 (MQ=255) cccAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGTCGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAGGGCATCGGTTAATAtt < 2:936755/143‑1 (MQ=255) ccAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAGGGCATCGGTTAATATTg > 2:911329/1‑143 (MQ=255) aGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAGGGCATCGGTTAATATTGcc > 2:2473/1‑143 (MQ=255) cTCGCAGCAGGCGAGAAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAGGGCATCGGTTAATATTGcccc > 2:980040/1‑143 (MQ=255) cGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAGGGCCTCGGTTAATATTGCCCCCg > 2:986847/1‑143 (MQ=255) agcagGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAGGGCATCGGTTAATATTGCCCCCGgcg > 2:137280/1‑143 (MQ=255) cGAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAAAATTTTTTGTTCCATTTCTGGTGTAATAACGGCATTCAGGTCTTCGGTTAGTATTGCCCCCGgcgggacgc > 1:306244/1‑137 (MQ=255) gAGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAGAGCATCGGTTAATATTGCCCACGGCGCAATGcc > 2:498245/1‑143 (MQ=255) aGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAACTTCTGGTGTAATAACGGATTTCAGGGCATCGGTTAATATTGCCCCCGGCGCAATGCCa < 1:181048/143‑1 (MQ=255) aGCAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTATTTGTTCAATTTCTGGTGTAATAACGGATTTCAGGGCATCGGTTAATATTGCCCCCGGCGCAATGCCa > 1:303736/1‑143 (MQ=255) cAAAGGAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAGGGCATCGGTTAATATTGCCCCCGGCGCAATGCCAtt < 1:1142570/143‑1 (MQ=255) gAACAGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAGGGCATCGGTTAATATTGCCCCCGGCGCAATGCCATTTAccc > 1:1061552/1‑143 (MQ=255) agagcTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTATGCTGTAACATTTTTTGTTCAATTTATGGTGTAATAACGGATTTCAGGGCATCGGTTAATATTGCCCCCGGCGCCACGCCATTTACCCGAat > 2:1113387/4‑143 (MQ=255) aGCGCTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCGGGGCGTCGGTTAATATTGCCCCCGGCGCGCTGCCATGTACCCGagt > 1:403129/1‑141 (MQ=255) aGCGCGGCGTTAGCAATATCGTGCTGTTGGTACAGACGTCTGTTCGGCGTGTGCTGGAACATTTTTTTTTCAATTTCTTGTGTAATAACGGATTTCAGGGCATCGGTTAATATTGTCCCCGGCGCAATGCCATTTACCCGAat < 2:1103988/143‑1 (MQ=255) cTGCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTCTTCAATTTCTGGTGTAATAGCGGATTTCAGGGCATCGGTTGATATGGCCCCGGGCGGACTGGCATTTCCCCgcgtatgt > 1:62634/1‑136 (MQ=255) gCGTTAGCAATATCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAGGGCATCGGTTAATATTGCCCCCGGCGCAATGCCATTTACCCGAATAttttt < 1:728100/143‑1 (MQ=255) atCCTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGCGTTTCAGGGCCTCCGTTAATATTGCCCCCGGCGCAATGCCACCTACCCCAATATTTTCTTCACCCAgcg > 2:336458/1‑141 (MQ=255) | ACAACACGCACGGTTGTTTACCGGTCCGTTAGTGTATTAATTGAGCTCCTGTACCCCACCACCGGAGACGGTGAGAATTTGTCCGCTTACCCAGCTCGCAGCAGGCGAGCAAAGGAACAGCGCTGCGTTAGCAATATCTTGCGGTTGGCCCAGACGTCTGATCGGCGTGTGCTGTAACATTTTTTGTTCAATTTCTGGTGTAATAACGGATTTCAGGGCATCGGTTAATATTGCCCCCGGCGCAATGCCATTTACCCGAATATTTTTTTCACCCAGGT > NC_000913/1697237‑1697514 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |