| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,919,321 | T→C | 13.2% | V125V (GTA→GTG) | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,919,321 | 0 | T | C | 13.2% | 240.2 / 23.2 | 98 | V125V (GTA→GTG) | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base T (42/43); new base C (9/4); total (51/47) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 2.39e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
Only 100 of 104 total aligned reads displayed.
AATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGT > Exported/2919251‑2919391 | 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) tCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCgg > 1:1028938/1‑71 (MQ=255) ccTGCATGGTCATCAGGTCCGCCAGCAGCTGGGTCGGGTGGAACTCGTTGGTCAGCCCGTTCCACACCgg > 1:4908013/1‑70 (MQ=255) cTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCAt < 1:3892490/64‑1 (MQ=255) cTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCa > 1:1223372/1‑71 (MQ=255) cTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCa > 1:5638374/1‑71 (MQ=255) cTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCa > 1:4673446/1‑71 (MQ=255) cTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCa > 1:4666714/1‑71 (MQ=255) cTGCATGGTCATCAGGTCCGCCAGCAGCTGGGTCGGGTGGAACTCGTTGGTCAGCACGTTCCACACCGGCa > 1:5084020/1‑71 (MQ=255) cATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGc > 1:1811018/1‑71 (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) 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) 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) 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 < 1:2992503/71‑1 (MQ=255) cTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCAt < 1:3328650/71‑1 (MQ=255) cTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCAt < 1:1589782/71‑1 (MQ=255) tCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCg < 1:2920689/43‑1 (MQ=255) tCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCg < 1:4003715/43‑1 (MQ=255) tCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCg < 1:1892150/43‑1 (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 > 1:1910597/1‑55 (MQ=255) ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtc > 1:3257760/1‑55 (MQ=255) ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtc > 1:4569142/1‑55 (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) 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) ccgttCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACt > 1:2042270/4‑70 (MQ=255) ccgttCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACt > 1:306238/4‑70 (MQ=255) ccgttCCACACCGGCACGCCCGCATACTGCGCCAGCGGTTCGACCACTTCCTGGCCGTGACCGCGATACTg < 1:4983946/68‑1 (MQ=255) ccATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTg < 1:1675769/71‑1 (MQ=255) cgttCCACACCGTCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTg > 1:2836535/3‑70 (MQ=255) cgttCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGa < 1:475425/69‑1 (MQ=255) gttCCACACCGGCACGCCCGCATACTGCGCCAGCGTATCGACCACTTCCTGGCCGTGACCGCGATACTg < 1:1508771/68‑1 (MQ=255) ttCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa < 1:3283864/63‑1 (MQ=255) tCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAAtg > 1:2279965/1‑70 (MQ=255) ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACaa > 1:3552184/1‑41 (MQ=255) ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc > 1:5014182/1‑71 (MQ=255) ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc > 1:2680694/1‑71 (MQ=255) ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc > 1:3929235/1‑71 (MQ=255) ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc > 1:402945/1‑71 (MQ=255) ccACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAAtgc > 1:3211553/1‑69 (MQ=255) cATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATa < 1:4792160/69‑1 (MQ=255) cATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAcc > 1:5485464/1‑71 (MQ=255) aTACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgcg < 1:4121044/58‑1 (MQ=255) aTACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCg < 1:1697541/71‑1 (MQ=255) aTACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCg < 1:2367806/71‑1 (MQ=255) tACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa < 1:4624778/58‑1 (MQ=255) tACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGt < 1:4988659/71‑1 (MQ=255) | AATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGT > Exported/2919251‑2919391 |
| 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: ‑ |