Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | Exported | 2,919,357 | A→C | 21.9% | I113M (ATT→ATG) ‡ | argI ← | ornithine carbamoyltransferase 1 |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | Exported | 2,919,357 | 0 | A | C | 21.9% | 210.1 / 84.9 | 137 | I113M (ATT→ATG) ‡ | argI | ornithine carbamoyltransferase 1 |
Reads supporting (aligned to +/- strand): ref base A (59/48); new base C (18/12); total (77/60) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 6.82e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.98e-01 |
Only 100 of 147 total aligned reads displayed.
CGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAA > Exported/2919288‑2919427 | cGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACaa < 1:4943226/71‑1 (MQ=255) cGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACa < 1:1013121/70‑1 (MQ=255) cGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACa < 1:5410958/70‑1 (MQ=255) gTGGGATGGAACTCATTGGTCAGGCCATTCCATACGGGCACGCTAGCGTATTCCGCCAGTGTTTCGACa < 1:980047/69‑1 (MQ=255) tGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtc < 1:4858629/71‑1 (MQ=255) tGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCt > 1:2501416/1‑70 (MQ=255) tGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCt > 1:4717303/1‑70 (MQ=255) gAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGAc > 1:1907166/1‑71 (MQ=255) cTCGTTGGTCAGCCCGTTCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGccgt < 1:2124962/71‑3 (MQ=255) cTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCAt < 1:3328650/71‑1 (MQ=255) cTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCAt < 1:1589782/71‑1 (MQ=255) aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtctc > 1:4668015/1‑60 (MQ=255) aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGc > 1:5674693/1‑71 (MQ=255) aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGc > 1:5324878/1‑71 (MQ=255) tGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGa > 1:3549004/1‑62 (MQ=255) ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtc > 1:4569142/1‑55 (MQ=255) ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtc > 1:1910597/1‑55 (MQ=255) gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc < 1:2879803/70‑1 (MQ=255) gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc < 1:2973416/70‑1 (MQ=255) gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc < 1:571441/70‑1 (MQ=255) gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc < 1:4780463/70‑1 (MQ=255) tCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa < 1:3589598/71‑1 (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) gCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCa < 1:900757/58‑1 (MQ=255) gCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACt < 1:1812446/71‑1 (MQ=255) ccgttCCACACCGGCACGCCCGCATACTGCGCCAGCGGTTCGACCACTTCCTGGCCGTGACCGCGATACTg < 1:4983946/68‑1 (MQ=255) ccATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTg < 1:1675769/71‑1 (MQ=255) cATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGa < 1:4742506/71‑1 (MQ=255) gttCCACACCGGCACGCCCGCATACTGCGCCAGCGTATCGACCACTTCCTGGCCGTGACCGCGATACTg < 1:1508771/68‑1 (MQ=255) ttCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa < 1:3283864/63‑1 (MQ=255) ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc > 1:5014182/1‑71 (MQ=255) ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc > 1:402945/1‑71 (MQ=255) ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc > 1:2680694/1‑71 (MQ=255) ccACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAAtgc > 1:3211553/1‑69 (MQ=255) cATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATa < 1:4792160/69‑1 (MQ=255) cATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAcc > 1:5485464/1‑71 (MQ=255) aTACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCg < 1:2367806/71‑1 (MQ=255) aTACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCg < 1:1697541/71‑1 (MQ=255) aCCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACaa > 1:2500805/1‑37 (MQ=255) aCCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGt > 1:733439/1‑70 (MQ=255) aCCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGt > 1:1745219/1‑70 (MQ=255) ccGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTc < 1:3940701/70‑1 (MQ=255) ccGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa > 1:4518782/1‑71 (MQ=255) ccGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCa > 1:2263157/1‑71 (MQ=255) ggCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa > 1:3176107/1‑71 (MQ=255) ggCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa > 1:4488857/1‑71 (MQ=255) ggCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa < 1:2234140/71‑1 (MQ=255) gCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATAc < 1:3546077/71‑1 (MQ=255) gCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa > 1:5183585/1‑70 (MQ=255) gCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa > 1:484841/1‑70 (MQ=255) gCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa > 1:269145/1‑70 (MQ=255) cACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACa > 1:10161/1‑71 (MQ=255) gCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCt > 1:1112475/1‑35 (MQ=255) gCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATa > 1:3112073/1‑51 (MQ=255) gCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGc < 1:3089849/71‑1 (MQ=255) cTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGc > 1:78385/1‑70 (MQ=255) cTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCg < 1:5055038/71‑1 (MQ=255) gCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGa < 1:5155006/69‑1 (MQ=255) gTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGAcc > 1:4983560/1‑69 (MQ=255) tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg > 1:4119429/1‑71 (MQ=255) tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg > 1:2112056/1‑71 (MQ=255) aTTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg > 1:776690/1‑70 (MQ=255) aTTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg < 1:133222/70‑1 (MQ=255) aTTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg > 1:1579204/1‑70 (MQ=255) ttCCGCCAGTGTTTCGACAATCTCCTGACCATAGcc > 1:4921986/1‑36 (MQ=255) ttCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGaa > 1:1573367/1‑47 (MQ=255) ttCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa > 1:1888607/1‑55 (MQ=255) ttCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa > 1:2796713/1‑55 (MQ=255) ccGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAc < 1:74845/70‑1 (MQ=255) cGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACa > 1:975375/1‑56 (MQ=255) cGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTTAATGCCGTCATACATCCGCCCGAGAAc < 1:383035/69‑1 (MQ=255) cGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAAc < 1:1889663/69‑1 (MQ=255) gCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGt < 1:305113/49‑1 (MQ=255) cAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa > 1:1321866/1‑49 (MQ=255) cAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa > 1:550620/1‑49 (MQ=255) cAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg < 1:4073582/71‑1 (MQ=255) cAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAAcccgcg < 1:4149179/71‑3 (MQ=255) agcgtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCgcgc < 1:2994542/68‑1 (MQ=255) agcgtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCgcgc < 1:1399009/68‑1 (MQ=255) gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg > 1:846323/1‑69 (MQ=255) gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg > 1:1392164/1‑69 (MQ=255) gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg > 1:3615736/1‑69 (MQ=255) cgtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCgcgcgg > 1:1599345/2‑69 (MQ=255) gtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACAtc > 1:4166330/1‑50 (MQ=255) gtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAgaa > 1:2348327/1‑59 (MQ=255) gtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgt > 1:115740/1‑71 (MQ=255) tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGa < 1:3460941/53‑1 (MQ=255) tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGa < 1:1687128/53‑1 (MQ=255) tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGa < 1:4010447/53‑1 (MQ=255) tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtg > 1:261763/1‑71 (MQ=255) tttCGACAATCTCCTGACAATAGCCGCGATACTGAATACCGTCATAc < 1:1045940/47‑1 (MQ=255) tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCaa > 1:4513022/1‑55 (MQ=255) tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTc > 1:4688723/1‑71 (MQ=255) cGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa > 1:3830768/1‑57 (MQ=255) gACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCtt < 1:2301822/71‑1 (MQ=255) cAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa > 1:5171538/1‑54 (MQ=255) aaTCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTaa < 1:1606965/71‑1 (MQ=255) | CGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAA > Exported/2919288‑2919427 |
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: ‑ |