| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,918,709 | G→C | 17.3% | V329V (GTC→GTG) ‡ | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,918,709 | 0 | G | C | 17.3% | 177.5 / 26.0 | 75 | V329V (GTC→GTG) ‡ | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base G (36/26); new base C (10/3); total (46/29) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 3.48e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.73e-01 | |||||||||||
TGTGATGCCGGGATGGTTTGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCG > Exported/2918641‑2918778 | tgtgATGCCGGGATGGTTTGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGAc > 1:2946233/1‑71 (MQ=255) tgATGCCGGGATGGTTTGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCa > 1:254862/1‑71 (MQ=255) ggATGGTTTGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCt > 1:4952249/1‑71 (MQ=255) gTTTGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCttt < 1:1225665/68‑1 (MQ=255) gTTTGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGa > 1:4493962/1‑70 (MQ=255) tttGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGc < 1:5028151/64‑1 (MQ=255) ttGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAg > 1:3224325/1‑71 (MQ=255) tGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAg < 1:3989188/70‑1 (MQ=255) gTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGt < 1:3399092/70‑1 (MQ=255) tttCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATg < 1:4386006/70‑1 (MQ=255) ttCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGAc < 1:3375353/48‑1 (MQ=255) ttCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGAc < 1:1292029/48‑1 (MQ=255) tCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTa > 1:2017864/1‑66 (MQ=255) tCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCa > 1:5341780/1‑70 (MQ=255) tCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCa > 1:3347589/1‑70 (MQ=255) tCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCa > 1:3341005/1‑70 (MQ=255) ccGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATAc < 1:5545724/71‑1 (MQ=255) cATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGtt > 1:4954906/1‑71 (MQ=255) aTCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGttt < 1:3802137/71‑1 (MQ=255) aTCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGttt > 1:2628298/1‑71 (MQ=255) aTCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGttt < 1:2768712/71‑1 (MQ=255) tCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCAt < 1:3541883/42‑1 (MQ=255) tCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCAt < 1:1480301/42‑1 (MQ=255) tCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGttt < 1:4029539/70‑1 (MQ=255) cTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTa > 1:2053410/1‑57 (MQ=255) tttATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCa > 1:1299978/1‑42 (MQ=255) tttATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCa > 1:5363888/1‑42 (MQ=255) tttATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAg > 1:350076/1‑54 (MQ=255) tttATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAg > 1:329472/1‑54 (MQ=255) tttATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGtt > 1:3318140/1‑67 (MQ=255) tttATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTcc > 1:2134231/1‑71 (MQ=255) tataGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGa < 1:5553535/49‑1 (MQ=255) tataGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGa < 1:1345715/49‑1 (MQ=255) tataGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGa > 1:3878840/1‑49 (MQ=255) tataGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGa < 1:2512428/49‑1 (MQ=255) tataGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGa > 1:2306536/1‑49 (MQ=255) tataGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGa < 1:2884489/49‑1 (MQ=255) tataGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCAGc > 1:2111593/1‑71 (MQ=255) taGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTAGATa > 1:5103857/1‑49 (MQ=255) aTAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATc > 1:877360/1‑70 (MQ=255) aGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGt > 1:1603840/1‑44 (MQ=255) aGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCa > 1:345850/1‑49 (MQ=255) aGCAATTATTTACTGAGCGTCGCGACAATCACCGCTTTGATAGt > 1:2700498/1‑44 (MQ=255) gCAATTATTTACTGAGCGTCGCGCCCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCaaa > 1:492088/1‑70 (MQ=255) ttattTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTcc > 1:3790499/1‑55 (MQ=255) ttattTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACaa < 1:993431/71‑1 (MQ=255) tattTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATAc > 1:3946427/1‑46 (MQ=255) attTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATg > 1:2060654/1‑71 (MQ=255) tttACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATg < 1:644712/70‑1 (MQ=255) tttACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATAAAAAACAATg < 1:4485733/70‑1 (MQ=255) tACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCt < 1:5530519/70‑1 (MQ=255) tGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATAc < 1:808261/39‑1 (MQ=255) tGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATAc < 1:339861/39‑1 (MQ=255) tGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTc > 1:1120100/1‑46 (MQ=255) caaGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTcgcc > 1:2189689/3‑70 (MQ=255) gAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTgg < 1:5353396/68‑1 (MQ=255) aaGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGcc > 1:353828/2‑49 (MQ=16) aaGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGcc > 1:66774/2‑49 (MQ=16) aaGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGcc > 1:4582003/2‑49 (MQ=16) aaGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTcg < 1:5402266/54‑2 (MQ=255) aaGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTcgccg > 1:4261758/2‑69 (MQ=255) aGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGc > 1:59125/1‑47 (MQ=16) aGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGc > 1:5206397/1‑47 (MQ=16) aGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGc > 1:4102399/1‑47 (MQ=16) aGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGc > 1:3633256/1‑47 (MQ=16) aGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGc > 1:4394633/1‑47 (MQ=16) aGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTcg < 1:1345654/54‑2 (MQ=255) aGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAacac < 1:1100466/59‑1 (MQ=255) aGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACaa > 1:170761/1‑61 (MQ=255) aGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTggcgg > 1:4924839/1‑70 (MQ=255) aGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTggcgg < 1:4542014/70‑1 (MQ=255) aGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTggcgg > 1:3020288/1‑70 (MQ=255) gCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCa < 1:4845447/71‑1 (MQ=255) cGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCaaaaa > 1:4725549/1‑56 (MQ=255) cGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCaaaaa > 1:757299/1‑56 (MQ=255) gcgcgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCa < 1:4935280/67‑1 (MQ=255) cgcgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGAtt > 1:5627546/1‑71 (MQ=255) gcgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACa > 1:1689430/1‑54 (MQ=255) gcgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTc > 1:5537665/1‑71 (MQ=255) gcgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTc > 1:526949/1‑71 (MQ=255) cgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCg < 1:3463676/71‑1 (MQ=255) cgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCg < 1:1460990/71‑1 (MQ=255) | TGTGATGCCGGGATGGTTTGTATTTCCCGGCATCTTTATAGCGATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCG > Exported/2918641‑2918778 |
| 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: ‑ |