| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,919,480 | A→C | 30.2% | A72A (GCT→GCG) | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,919,480 | 0 | A | C | 30.2% | 131.3 / 124.7 | 139 | A72A (GCT→GCG) | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base A (40/57); new base C (32/10); total (72/67) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.87e-04 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.82e-01 | |||||||||||
Only 100 of 143 total aligned reads displayed.
GGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGAT > Exported/2919414‑2919545 | aGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCt < 1:4949510/71‑1 (MQ=255) gtgtCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTg > 1:3233839/1‑71 (MQ=255) gtgtCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTg > 1:2540900/1‑71 (MQ=255) tgtCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCAcc < 1:5352630/67‑1 (MQ=255) tCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCa < 1:4228580/63‑1 (MQ=255) tttAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGa > 1:523689/1‑58 (MQ=255) tttAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCa > 1:5383000/1‑70 (MQ=255) cttAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCa > 1:228556/2‑70 (MQ=255) tAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCaaat > 1:1306106/1‑71 (MQ=255) tAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCatat > 1:4699447/1‑71 (MQ=255) tAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCa < 1:3904649/68‑1 (MQ=255) tAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCa < 1:4431115/68‑1 (MQ=255) aaTCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGa > 1:1250657/1‑55 (MQ=255) aTCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGt > 1:5045680/1‑64 (MQ=255) ttgACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCg > 1:4575185/3‑71 (MQ=255) ttgACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCg > 1:1819107/3‑71 (MQ=255) gACTCTTTATGCCCAATCTGGCTTCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCgg > 1:4404883/1‑70 (MQ=255) gACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCg > 1:717621/1‑69 (MQ=255) gACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGGGAGCACCCTGGTCATATGCGGc < 1:1807272/71‑1 (MQ=255) gACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCgg > 1:2110440/1‑70 (MQ=255) gACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCgg > 1:3092168/1‑70 (MQ=255) aCTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCAccc < 1:136070/56‑1 (MQ=255) tttATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCata > 1:2714018/1‑60 (MQ=255) tttATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGc < 1:3622142/66‑1 (MQ=255) tttATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACt > 1:1653631/1‑70 (MQ=255) ttATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc > 1:153013/1‑71 (MQ=255) ttATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc > 1:2903921/1‑71 (MQ=255) tATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTc > 1:3443826/1‑70 (MQ=255) tATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCaa > 1:5332485/1‑66 (MQ=255) tATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc > 1:3174424/1‑70 (MQ=255) tgcccAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGa < 1:280392/67‑1 (MQ=255) tgcccAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGa < 1:3845007/67‑1 (MQ=255) tGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa < 1:3818374/70‑1 (MQ=255) tGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa < 1:2969478/70‑1 (MQ=255) aCCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc < 1:4730925/66‑1 (MQ=255) aCCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc < 1:2384455/66‑1 (MQ=255) aCCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGACCACCCTGGTCATATGCGGCAACTTCGa > 1:3750491/1‑68 (MQ=255) ccAATCTGGCTGCCGCTTGGGGCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGaaa > 1:4659433/1‑69 (MQ=255) cAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGaaa > 1:5187240/1‑68 (MQ=255) cAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCaa > 1:2786265/1‑60 (MQ=255) aaTCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAagag > 1:4736921/1‑70 (MQ=255) aTCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCa > 1:5562645/1‑39 (MQ=255) cTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCg > 1:5238320/1‑52 (MQ=255) cTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCg > 1:1385077/1‑52 (MQ=255) cTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGaaa > 1:495666/1‑64 (MQ=255) cTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCaac > 1:5124203/1‑69 (MQ=255) tGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCg > 1:1763425/1‑71 (MQ=255) tGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCaa > 1:1343995/1‑55 (MQ=255) tGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACg > 1:302305/1‑71 (MQ=255) tcTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGGCAAATGCGGCAACTTCGAAAGAGCaac < 1:227589/67‑3 (MQ=255) gCTGCCGCTTGTGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCggg < 1:2123353/71‑1 (MQ=255) gCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATc < 1:2610503/68‑1 (MQ=255) gCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCgg < 1:3465091/70‑1 (MQ=255) gCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCgg < 1:4551957/70‑1 (MQ=255) gCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACggg > 1:5339171/1‑71 (MQ=255) gCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACggg > 1:726144/1‑71 (MQ=255) cTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAaga > 1:4036508/1‑62 (MQ=255) cTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACggg > 1:3978607/1‑70 (MQ=255) cTGCAGCTTGGGCCGAGATAAGTAACGCGAGCACCCTgg > 1:225472/1‑39 (MQ=255) gCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTAc > 1:4940451/1‑71 (MQ=255) ccGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCa < 1:1003907/39‑1 (MQ=255) ccGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCa < 1:1307294/39‑1 (MQ=255) cTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagt > 1:342421/1‑71 (MQ=255) gggCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc < 1:4282139/69‑1 (MQ=255) gggCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc < 1:685737/69‑1 (MQ=255) gCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa < 1:684815/47‑1 (MQ=255) cGAGATAAGTAACTCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCt > 1:1494119/1‑71 (MQ=255) cGAGATAAGTAACGCGAGCACCGTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCt < 1:3426440/71‑1 (MQ=255) cGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa < 1:5400427/45‑1 (MQ=255) cGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa < 1:3322810/45‑1 (MQ=255) aaaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTAc < 1:1668361/56‑1 (MQ=255) aaaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTAc < 1:1392408/56‑1 (MQ=255) aaaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCttt > 1:3576672/3‑71 (MQ=255) gaTAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtcga > 1:887751/1‑64 (MQ=255) aaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCtttt > 1:234508/2‑71 (MQ=255) aaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCttt < 1:3762245/69‑1 (MQ=255) aTAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCg < 1:676513/40‑1 (MQ=255) aTAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCAt > 1:854560/1‑49 (MQ=255) aTAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCttt < 1:2889611/69‑1 (MQ=255) aggTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCtttt > 1:2723965/3‑68 (MQ=255) ggTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCg < 1:3824287/69‑1 (MQ=255) aGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCg < 1:5149346/70‑1 (MQ=255) aGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCg < 1:1388748/70‑1 (MQ=255) aGTAACGCGAGCACCATGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc < 1:274060/58‑1 (MQ=255) aGTAACGCGAGCACCATGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc < 1:3956849/58‑1 (MQ=255) gTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCtttttag > 1:3370418/1‑67 (MQ=255) gTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCttt < 1:892911/65‑1 (MQ=255) gTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCttt < 1:1094189/65‑1 (MQ=255) gTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCttt < 1:3269978/65‑1 (MQ=255) tAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTa > 1:4805761/1‑50 (MQ=255) tAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTa > 1:2063531/1‑50 (MQ=255) tAACGCGAGCACCGTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTc > 1:3337491/1‑67 (MQ=255) tAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa < 1:5377826/36‑1 (MQ=255) tAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa < 1:771263/36‑1 (MQ=255) tAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATTGGGTAcgag > 1:3486198/1‑54 (MQ=255) aCGCGAGCACCCTGGTCATATGCGTCAACTTCGAAAGAGCATCTGGTAc > 1:2053851/1‑49 (MQ=39) aCGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGa > 1:3640181/1‑70 (MQ=255) aCGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGAt < 1:2959156/71‑1 (MQ=255) gAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtcg < 1:3494316/51‑1 (MQ=255) gAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGaa > 1:4629004/1‑64 (MQ=255) | GGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGAT > Exported/2919414‑2919545 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |