| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,919,315 | A→G | 9.9% | N127N (AAT→AAC) | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,919,315 | 0 | A | G | 9.9% | 243.4 / 13.9 | 91 | N127N (AAT→AAC) | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base A (39/43); new base G (7/2); total (46/45) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.58e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.79e-01 | |||||||||||
GCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGA > Exported/2919248‑2919384 | gCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTc < 1:1168233/71‑1 (MQ=255)gCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTc < 1:71432/71‑1 (MQ=255) aaTGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCAt < 1:2454188/71‑1 (MQ=255) tGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATAc > 1:4737010/1‑71 (MQ=255) tGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATAc > 1:3730550/1‑71 (MQ=255) tGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATAc > 1:3789684/1‑71 (MQ=255) tGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATAc < 1:5521335/71‑1 (MQ=255) tGCTCCTGCATGGTCATCAGGTCCGCCAGCAGCTGGGTCGGGTGGAACTCGTTGGTCAGCCCGTTCCacac > 1:2477149/1‑71 (MQ=255) gCTCCTGCATGGTCATCAGGTCCGCCAGCAGCTGGGTCGGGTGGAACTCGTTGGTCAGCCCGTTCCa > 1:3222573/1‑67 (MQ=255) tCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCgg > 1:1028938/1‑71 (MQ=255) ccTGCATGGTCATCAGGTCCGCCAGCAGCTGGGTCGGGTGGAACTCGTTGGTCAGCCCGTTCCACACCgg > 1:4908013/1‑70 (MQ=255) cTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCAt < 1:3892490/64‑1 (MQ=255) cTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCa > 1:5638374/1‑71 (MQ=255) cTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCa > 1:4673446/1‑71 (MQ=255) cTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCa > 1:4666714/1‑71 (MQ=255) cTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCa > 1:1223372/1‑71 (MQ=255) cTGCATGGTCATCAGGTCCGCCAGCAGCTGGGTCGGGTGGAACTCGTTGGTCAGCACGTTCCACACCGGCa > 1:5084020/1‑71 (MQ=255) tGCATGGTCATCAGGTCCGCCAGCAGCTGGGTCGGGTGGAACTCGTTGGTCAGCCCGTTCCac < 1:5158794/63‑2 (MQ=255) cATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGc > 1:1811018/1‑71 (MQ=255) cATGGTCATCAGGTCCGCCAGCAGCTGGGTCGGGTGGAACTCGTTGGTCAGCCCGTTCCaca > 1:4321845/1‑60 (MQ=255) cATGGTCATCAGGTCCGCCAGCAGCTGGGTCGGGTGGAACTCGTTGGTCAGCCCGTTCCACACCGGCACGc > 1:3624200/1‑71 (MQ=255) cATGGTCATCAGGTCCGCCAGCAGCTGGGTCGGGTGGAACTCGTTGGTCAGCCCGTTCCACACCGGCACGc > 1:666396/1‑71 (MQ=255) aTGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGc > 1:4712972/1‑70 (MQ=255) aTGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCt < 1:1884845/71‑1 (MQ=255) ggTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAg > 1:4734366/1‑71 (MQ=255) gTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCt < 1:5235145/68‑1 (MQ=255) tGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCg < 1:1008725/60‑1 (MQ=255) agaagaTCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTa > 1:3144281/1‑71 (MQ=255) gaTCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTcc < 1:492190/71‑1 (MQ=255) gaTCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTcc < 1:1094994/71‑1 (MQ=255) aTCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCa > 1:4084968/1‑48 (MQ=255) aTCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCa > 1:1684915/1‑48 (MQ=255) ccGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCa > 1:1314175/1‑54 (MQ=255) ccGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGc > 1:1182776/1‑70 (MQ=255) gCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATAc > 1:1855641/1‑47 (MQ=255) gCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAg > 1:256341/1‑71 (MQ=255) ccAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAgt < 1:4649019/71‑1 (MQ=255) gcagcTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAgtg > 1:4436788/1‑69 (MQ=255) cagcTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCAt < 1:2364871/40‑1 (MQ=255) gcTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCg < 1:540105/71‑1 (MQ=255) cTGCGTGGGATGGAACTCATTGGTCAGGCCATTcc > 1:1935097/1‑35 (MQ=255) gCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCg > 1:4106739/1‑39 (MQ=255) gCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGAc > 1:4554183/1‑70 (MQ=255) cGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACaa < 1:4943226/71‑1 (MQ=255) cGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACa < 1:5410958/70‑1 (MQ=255) cGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACa < 1:1013121/70‑1 (MQ=255) cGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACa < 1:2351598/70‑1 (MQ=255) gTGGGATGGAACTCATTGGTCAGGCCATTCCATACGGGCACGCTAGCGTATTCCGCCAGTGTTTCGACa < 1:980047/69‑1 (MQ=255) tGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtc < 1:4858629/71‑1 (MQ=255) aTGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCt < 1:773674/71‑1 (MQ=255) tGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGc > 1:466979/1‑41 (MQ=255) tGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCt > 1:4717303/1‑70 (MQ=255) tGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCt > 1:2501416/1‑70 (MQ=255) gAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGAc > 1:1907166/1‑71 (MQ=255) aCTCATTGGTCAGGCCATTCCATACCTGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCa < 1:58522/71‑1 (MQ=255) cTCGTTGGTCAGCCCGTTCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGccgt < 1:2124962/71‑3 (MQ=255) cTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCAt < 1:1589782/71‑1 (MQ=255) cTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCAt < 1:2992503/71‑1 (MQ=255) cTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCAt < 1:3328650/71‑1 (MQ=255) tCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCg < 1:4003715/43‑1 (MQ=255) tCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCg < 1:1892150/43‑1 (MQ=255) tCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCg < 1:2920689/43‑1 (MQ=255) tCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGAc > 1:212285/1‑56 (MQ=255) cATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAg > 1:1217205/1‑71 (MQ=255) aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtctc > 1:4668015/1‑60 (MQ=255) aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGc > 1:5324878/1‑71 (MQ=255) aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGc > 1:5674693/1‑71 (MQ=255) tGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGa > 1:1539121/1‑51 (MQ=255) tGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGa > 1:3549004/1‑62 (MQ=255) ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtc > 1:4569142/1‑55 (MQ=255) ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtc > 1:1910597/1‑55 (MQ=255) ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtc > 1:3257760/1‑55 (MQ=255) ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGa > 1:5145407/1‑61 (MQ=255) ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGa > 1:3724808/1‑61 (MQ=255) gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc < 1:4780463/70‑1 (MQ=255) gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc < 1:571441/70‑1 (MQ=255) gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc < 1:2973416/70‑1 (MQ=255) gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc < 1:2879803/70‑1 (MQ=255) tCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCa < 1:3460710/39‑1 (MQ=255) tCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCa < 1:2228256/39‑1 (MQ=255) tCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa < 1:3589598/71‑1 (MQ=255) tCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa < 1:1858072/71‑1 (MQ=255) aGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGAt < 1:3962260/70‑1 (MQ=255) aGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATa > 1:2758018/1‑71 (MQ=255) ggCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATa < 1:4341432/61‑1 (MQ=255) ggCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa < 1:241723/68‑1 (MQ=255) ggCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa < 1:1413791/68‑1 (MQ=255) gCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCa < 1:900757/58‑1 (MQ=255) gCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACt < 1:1812446/71‑1 (MQ=255) ccATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTg < 1:1675769/71‑1 (MQ=255) cATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGa < 1:4742506/71‑1 (MQ=255) | GCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGA > Exported/2919248‑2919384 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 21 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |