| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,918,754 | A→G | 18.2% | F314F (TTT→TTC) | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,918,754 | 0 | A | G | 18.2% | 234.4 / 42.6 | 110 | F314F (TTT→TTC) | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base A (43/47); new base G (14/6); total (57/53) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 8.67e-02 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 3.11e-01 | |||||||||||
Only 100 of 118 total aligned reads displayed.
GCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTT > Exported/2918687‑2918824 | gCAATTATTTACTGAGCGTCGCGCCCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCaaa > 1:492088/1‑70 (MQ=255) attTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATg > 1:2060654/1‑71 (MQ=255) tttACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATg < 1:644712/70‑1 (MQ=255) tttACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATAAAAAACAATg < 1:4485733/70‑1 (MQ=255) caaGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTcgcc > 1:2189689/3‑70 (MQ=255) gAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTgg < 1:5353396/68‑1 (MQ=255) aaGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTcgccg > 1:4261758/2‑69 (MQ=255) aGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAacac < 1:1100466/59‑1 (MQ=255) aGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTggcgg > 1:3020288/1‑70 (MQ=255) aGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTggcgg < 1:4542014/70‑1 (MQ=255) cGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCaaaaa > 1:757299/1‑56 (MQ=255) cGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCaaaaa > 1:4725549/1‑56 (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) atcATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAacac < 1:5057015/48‑1 (MQ=255) tcATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTCGTCGAACACGATGCTCGCCGCCGACTCaaac < 1:4758191/70‑2 (MQ=255) cATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTc > 1:376165/1‑66 (MQ=255) cATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGaa > 1:1033733/1‑69 (MQ=255) cATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCaaaca > 1:1793959/1‑69 (MQ=255) cATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCaaaca > 1:3081639/1‑69 (MQ=255) cATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCaaaca > 1:3187916/1‑69 (MQ=255) aTCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAAc < 1:4863370/47‑1 (MQ=255) aTCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGAc < 1:195660/71‑1 (MQ=255) aTCACCGCTTTGATAGTATGCATACGGTTTTACGCCTGATCAAAAACAATGCTgg > 1:3327857/1‑55 (MQ=255) aTCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCgaac > 1:3346911/1‑44 (MQ=255) aTCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCgaac > 1:3876414/1‑44 (MQ=255) aTCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAacacga > 1:4012771/1‑47 (MQ=255) aTCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCaaa > 1:1322001/1‑68 (MQ=255) aTCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAacac > 1:4587746/1‑71 (MQ=255) aTCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAacac > 1:1985400/1‑71 (MQ=255) aCCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACa > 1:2851831/1‑45 (MQ=255) aCCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCt < 1:4749531/70‑1 (MQ=255) aCCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCt < 1:2302600/70‑1 (MQ=255) aCCGCTTTGATAGTATGCATACGGTTTTCCG‑CTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtca > 1:5102262/1‑71 (MQ=255) ccGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtca < 1:447210/71‑1 (MQ=255) ccGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCtcg > 1:2910214/1‑70 (MQ=255) gCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCt < 1:4946635/47‑1 (MQ=255) cTTTGATAGTATTCATACGGTTTTCCGCCTGATCAAAAACaa > 1:4833172/1‑42 (MQ=255) cTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACaa > 1:306636/1‑42 (MQ=255) tttGATAGTATGCATACGGTTTTCCGCCTGATCAAAAAc < 1:3987717/39‑1 (MQ=255) tttGATAGTATGCATACGGTTTTCCGCCTGATCAAAAAc < 1:1011809/39‑1 (MQ=255) tttGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAg > 1:2536734/1‑71 (MQ=255) tGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGt < 1:961524/70‑1 (MQ=255) tGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGt < 1:1198552/70‑1 (MQ=255) gATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTg < 1:3663839/70‑1 (MQ=255) gATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTg < 1:2907587/70‑1 (MQ=255) aTAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc > 1:1402036/1‑71 (MQ=255) tAGTATCCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACt < 1:5361374/71‑1 (MQ=255) gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc < 1:3007956/71‑1 (MQ=255) gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc < 1:1345165/71‑1 (MQ=255) gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc < 1:2452414/71‑1 (MQ=255) gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc < 1:2635760/71‑1 (MQ=255) aTGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGaa > 1:5548068/1‑51 (MQ=255) aTGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGaa > 1:2568765/1‑51 (MQ=255) tGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtcatca < 1:4097790/60‑1 (MQ=255) tGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa > 1:4739036/1‑70 (MQ=255) cATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCAtcc > 1:3895276/1‑69 (MQ=255) cGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGc > 1:4455993/1‑70 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGa > 1:3950618/1‑38 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGGCCTCATCAg > 1:2695654/1‑55 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtca > 1:5146430/1‑51 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtca > 1:5236522/1‑51 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc > 1:4756248/1‑70 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc > 1:1584815/1‑70 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc < 1:1832383/70‑1 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc > 1:2264626/1‑70 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc > 1:2323733/1‑70 (MQ=255) ttttCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGCCGTg < 1:2992857/71‑1 (MQ=255) ttttCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGCCGTg < 1:818793/71‑1 (MQ=255) ttttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATg < 1:1080511/71‑1 (MQ=255) ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATg > 1:627066/1‑69 (MQ=255) ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt < 1:132974/70‑1 (MQ=255) ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt < 1:1652947/70‑1 (MQ=255) ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt < 1:5079649/70‑1 (MQ=255) ccGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTa < 1:2975957/69‑1 (MQ=255) ccGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAg < 1:3210685/70‑1 (MQ=255) ccTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCa < 1:4915402/71‑1 (MQ=255) cTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCa > 1:1270875/1‑70 (MQ=255) gATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc < 1:1376599/46‑1 (MQ=255) aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCtcat < 1:2498425/38‑1 (MQ=255) aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCtcat < 1:2247571/38‑1 (MQ=255) aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc < 1:879623/48‑1 (MQ=255) aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt < 1:3617310/61‑1 (MQ=255) aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTa < 1:5396164/62‑1 (MQ=255) aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAt < 1:4201521/70‑1 (MQ=255) aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAt > 1:2346855/1‑70 (MQ=255) tCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAt < 1:487271/69‑1 (MQ=255) cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc > 1:885537/1‑43 (MQ=255) cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa > 1:4886503/1‑48 (MQ=255) cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa > 1:243394/1‑48 (MQ=255) cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa > 1:3819288/1‑48 (MQ=255) cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAg > 1:5607975/1‑61 (MQ=255) aaaaaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAgg > 1:2195743/1‑61 (MQ=255) aaaaaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAttctt > 1:1574564/1‑71 (MQ=255) aaaaaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAttctt > 1:1040042/1‑71 (MQ=255) | GCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTT > Exported/2918687‑2918824 |
| 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: ‑ |