| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,919,459 | T→C | 26.4% | P79P (CCA→CCG) | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,919,459 | 0 | T | C | 26.4% | 217.1 / 90.8 | 140 | P79P (CCA→CCG) | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base T (55/48); new base C (30/7); total (85/55) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 3.21e-03 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.20e-01 | |||||||||||
Only 100 of 143 total aligned reads displayed.
CGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGT > Exported/2919389‑2919527 | cGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCtt < 1:1396736/71‑1 (MQ=255) gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg < 1:94395/71‑1 (MQ=255) gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg > 1:4752809/1‑71 (MQ=255) gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg > 1:1869083/1‑71 (MQ=255) gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg > 1:5531244/1‑71 (MQ=255) aTACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGc > 1:3595857/1‑71 (MQ=255) aTACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCggcc > 1:3962020/1‑69 (MQ=255) tACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGccc > 1:1830407/1‑71 (MQ=255) aCATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc > 1:4259163/1‑70 (MQ=255) aCATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGccc > 1:5546291/1‑70 (MQ=255) aCATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGccc > 1:4988122/1‑70 (MQ=255) cATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc > 1:5194333/1‑69 (MQ=255) cATGCGACCAACCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCga < 1:2594551/71‑1 (MQ=255) cATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGcccta < 1:2485555/71‑3 (MQ=255) tGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc > 1:3635020/1‑67 (MQ=255) tGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc > 1:3080077/1‑67 (MQ=255) gCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCgaga > 1:4028116/1‑70 (MQ=255) ccAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGt < 1:22761/71‑1 (MQ=255) cAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGt < 1:867675/70‑1 (MQ=255) aaGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTaa > 1:3226887/1‑71 (MQ=255) aGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCtt < 1:2231518/54‑1 (MQ=255) aGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTaa < 1:4695923/70‑1 (MQ=255) cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc < 1:4417167/57‑1 (MQ=255) cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAAcgc < 1:1254243/71‑1 (MQ=255) cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAAcgc > 1:3650320/1‑71 (MQ=255) cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAAcgc < 1:4518990/71‑1 (MQ=255) aCGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAAcgc < 1:5614383/70‑1 (MQ=255) aGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCt < 1:4949510/71‑1 (MQ=255) tgtCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCAcc < 1:5352630/67‑1 (MQ=255) tccttAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCATAAATAGGTACCGCGCGCGCCCTGGt > 1:5591149/4‑70 (MQ=255) tCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATa > 1:450414/1‑50 (MQ=255) tCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCa < 1:4228580/63‑1 (MQ=255) tttAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATa > 1:40336/1‑48 (MQ=255) tttAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTatc > 1:4138938/1‑52 (MQ=255) tttAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCa > 1:5383000/1‑70 (MQ=255) tAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCaaat > 1:1306106/1‑71 (MQ=255) tAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCaaat > 1:5364924/1‑71 (MQ=255) tAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCatat > 1:4699447/1‑71 (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) tCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCa < 1:2831777/65‑1 (MQ=255) gACTCTTTATGCCCAATCTGGCTTCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCgg > 1:4404883/1‑70 (MQ=255) gACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGccc > 1:4104350/1‑57 (MQ=255) gACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGGGAGCACCCTGGTCATATGCGGc < 1:1807272/71‑1 (MQ=255) gACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCgg > 1:3092168/1‑70 (MQ=255) gACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCgg > 1:2110440/1‑70 (MQ=255) gACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGc < 1:218339/71‑1 (MQ=255) gACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGc < 1:2767777/71‑1 (MQ=255) aCTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCAccc < 1:136070/56‑1 (MQ=255) aCTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCAccc < 1:3902671/56‑1 (MQ=255) aCTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCAccc < 1:2929451/56‑1 (MQ=255) aCTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCa < 1:3390358/71‑1 (MQ=255) ctctTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAAcgcg < 1:631830/48‑1 (MQ=19) tctTTATGACCAATCTGGCTGCCGCTTGGGCCgag < 1:941693/35‑1 (MQ=255) tctTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAg < 1:3961688/40‑1 (MQ=255) ctTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGa > 1:45659/1‑47 (MQ=255) tttATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAg > 1:867150/1‑47 (MQ=255) tttATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCata > 1:2714018/1‑60 (MQ=255) tttATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACt > 1:1653631/1‑70 (MQ=255) ttATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCAcc > 1:3580523/1‑50 (MQ=255) ttATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc > 1:2903921/1‑71 (MQ=255) tATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTc > 1:3443826/1‑70 (MQ=255) tATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGt > 1:576103/1‑37 (MQ=255) tATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCt > 1:145437/1‑51 (MQ=255) tATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCaa > 1:5332485/1‑66 (MQ=255) tATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc < 1:694644/70‑1 (MQ=255) tgcccAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGa < 1:3845007/67‑1 (MQ=255) tgcccAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGa < 1:280392/67‑1 (MQ=255) tGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa < 1:3818374/70‑1 (MQ=255) gACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa < 1:3811750/69‑1 (MQ=255) aCCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc < 1:2384455/66‑1 (MQ=255) aCCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc < 1:4730925/66‑1 (MQ=255) aCCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGACCACCCTGGTCATATGCGGCAACTTCGa > 1:3750491/1‑68 (MQ=255) cAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGaaa > 1:5187240/1‑68 (MQ=255) cAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCaa > 1:2786265/1‑60 (MQ=255) aaTCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAagag > 1:4736921/1‑70 (MQ=255) aTCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCa > 1:3479276/1‑71 (MQ=255) cTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCg > 1:1385077/1‑52 (MQ=255) cTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCg > 1:5238320/1‑52 (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) gCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACggg > 1:726144/1‑71 (MQ=255) cTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACggg > 1:3978607/1‑70 (MQ=255) cTGCAGCTTGGGCCGAGATAAGTAACGCGAGCACCCTgg > 1:225472/1‑39 (MQ=255) gCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTa > 1:3230002/1‑70 (MQ=255) gCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTAc > 1:4940451/1‑71 (MQ=255) ccGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCa < 1:1307294/39‑1 (MQ=255) ccGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCa < 1:1003907/39‑1 (MQ=255) cGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTa > 1:751527/1‑68 (MQ=255) cGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTa > 1:1963677/1‑68 (MQ=255) cGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcga < 1:1587703/71‑1 (MQ=255) cTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagt > 1:342421/1‑71 (MQ=255) | CGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGT > Exported/2919389‑2919527 |
| 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: ‑ |