Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | Exported | 2,919,493 | T→A | 30.5% | Y68F (TAT→TTT) | 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 | 2,919,493 | 0 | T | A | 30.5% | 200.5 / 121.5 | 141 | Y68F (TAT→TTT) | argI | ornithine carbamoyltransferase 1 |
Reads supporting (aligned to +/- strand): ref base T (38/60); new base A (29/14); total (67/74) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.94e-03 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.75e-01 |
Only 100 of 149 total aligned reads displayed.
TAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTT > Exported/2919425‑2919560 | tAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCaaat > 1:1306106/1‑71 (MQ=255) tAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCaaat > 1:5364924/1‑71 (MQ=255) tAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCatat > 1:4699447/1‑71 (MQ=255) ttgACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCg > 1:4575185/3‑71 (MQ=255) gACTCTTTATGCCCAATCTGGCTTCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCgg > 1:4404883/1‑70 (MQ=255) gACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGGGAGCACCCTGGTCATATGCGGc < 1:1807272/71‑1 (MQ=255) gACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCgg > 1:2110440/1‑70 (MQ=255) gACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGc < 1:218339/71‑1 (MQ=255) aCTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCa < 1:3390358/71‑1 (MQ=255) tttATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGc < 1:3622142/66‑1 (MQ=255) tttATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACt > 1:1653631/1‑70 (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) tATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc < 1:694644/70‑1 (MQ=255) tgcccAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGa < 1:3845007/67‑1 (MQ=255) tGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa < 1:513397/70‑1 (MQ=255) tGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa < 1:2969478/70‑1 (MQ=255) gACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa < 1:3811750/69‑1 (MQ=255) gACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa < 1:207597/69‑1 (MQ=255) aCCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc < 1:4730925/66‑1 (MQ=255) aCCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGACCACCCTGGTCATATGCGGCAACTTCGa > 1:3750491/1‑68 (MQ=255) ccAATCTGGCTGCCGCTTGGGGCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGaaa > 1:4659433/1‑69 (MQ=255) cAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCaa > 1:2786265/1‑60 (MQ=255) aaTCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAagag > 1:4736921/1‑70 (MQ=255) aTCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCa > 1:397055/1‑71 (MQ=255) tCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGaaa < 1:5384988/65‑1 (MQ=255) cTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCg > 1:5238320/1‑52 (MQ=255) cTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGaaa > 1:495666/1‑64 (MQ=255) tGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCaa > 1:1343995/1‑55 (MQ=255) gCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATc < 1:2610503/68‑1 (MQ=255) gCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCggg < 1:1695333/71‑1 (MQ=255) gCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCgg < 1:3465091/70‑1 (MQ=255) gCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACggg > 1:726144/1‑71 (MQ=255) cTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAaga > 1:4036508/1‑62 (MQ=255) gCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTa > 1:3230002/1‑70 (MQ=255) gCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTAc > 1:4940451/1‑71 (MQ=255) cGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTa > 1:751527/1‑68 (MQ=255) cGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcga < 1:1587703/71‑1 (MQ=255) cTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagt > 1:342421/1‑71 (MQ=255) gggCCGAGTTAAGTAACGCGAGCACCCTGGTCATATGCCGCAACTTCGAAAGAGCATCGGGTAcgagtcg < 1:5222055/70‑1 (MQ=255) gggCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc < 1:4282139/69‑1 (MQ=255) gggCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc < 1:685737/69‑1 (MQ=255) ggCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc < 1:3089739/68‑1 (MQ=255) gCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa < 1:1302183/47‑1 (MQ=255) cGAGATAAGTAACTCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCt > 1:1494119/1‑71 (MQ=255) cGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa < 1:5400427/45‑1 (MQ=255) cGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa < 1:3322810/45‑1 (MQ=255) aaaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTAc < 1:1392408/56‑1 (MQ=255) gaTAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtcga > 1:887751/1‑64 (MQ=255) gaTAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCtttt < 1:4420153/71‑1 (MQ=255) aaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCtttt > 1:234508/2‑71 (MQ=255) aaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCtttt > 1:3430912/2‑71 (MQ=255) aaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCtttt > 1:2311696/2‑71 (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 < 1:1388748/70‑1 (MQ=255) aGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCg < 1:5149346/70‑1 (MQ=255) aGTAACGCGAGCACCATGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc < 1:3956849/58‑1 (MQ=255) aGTAACGCGAGCACCATGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc < 1:274060/58‑1 (MQ=255) gTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCttt < 1:3269978/65‑1 (MQ=255) gTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCttt < 1:1094189/65‑1 (MQ=255) tAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTa > 1:4805761/1‑50 (MQ=255) tAACGCGAGCACCGTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTc > 1:3337491/1‑67 (MQ=255) tAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATTGGGTAcgag > 1:3486198/1‑54 (MQ=255) aCGCGAGCACCCTGGTCATATGCGTCAACTTCGAAAGAGCATCTGGTAc > 1:2053851/1‑49 (MQ=39) aCGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcga > 1:2468374/1‑51 (MQ=255) aCGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGa > 1:3640181/1‑70 (MQ=255) gAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtcg < 1:3494316/51‑1 (MQ=255) gAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGaa > 1:4629004/1‑64 (MQ=255) gCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCg > 1:1859077/1‑60 (MQ=255) aCCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGcgcg < 1:4041117/70‑1 (MQ=255) cccTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCttt < 1:1781473/53‑1 (MQ=255) ccTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGaa < 1:5685576/58‑1 (MQ=255) ccTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGaa < 1:4948340/58‑1 (MQ=255) ccTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGAt < 1:1561716/61‑1 (MQ=255) ccTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGAt < 1:5257024/61‑1 (MQ=255) cTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGcgcg < 1:3029357/67‑1 (MQ=255) cTGGTCAAATGCGGCAACTTCGAAAGAGCAACggg < 1:5377177/35‑1 (MQ=38) cTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGaa < 1:3803633/57‑1 (MQ=255) cTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGaa < 1:338205/57‑1 (MQ=255) tGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGa > 1:1637630/1‑55 (MQ=255) tGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGa > 1:1754536/1‑58 (MQ=255) tGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGtt > 1:2225803/1‑71 (MQ=255) tGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGtt > 1:3423371/1‑71 (MQ=255) ggTCAAATGCGGGAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGttt > 1:1950550/1‑71 (MQ=255) gTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAg > 1:5052402/1‑55 (MQ=255) gTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTCTCGAAGATGAGCGCGATGtttt < 1:3104648/71‑1 (MQ=255) gTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGttt < 1:4724757/70‑1 (MQ=255) tCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc < 1:2787273/39‑1 (MQ=255) tCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGaa < 1:4494721/53‑1 (MQ=255) tCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGaa < 1:1357511/53‑1 (MQ=255) tCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGttttt < 1:298933/71‑1 (MQ=255) atatGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGa > 1:2046400/1‑53 (MQ=255) tatGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCttt < 1:1433691/44‑1 (MQ=255) tatGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCtt < 1:3723218/43‑1 (MQ=255) | TAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTT > Exported/2919425‑2919560 |
Alignment Legend |
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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: ‑ |