| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,918,781 | G→C | 7.8% | V305V (GTC→GTG) | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,918,781 | 0 | G | C | 7.8% | 260.1 / 9.8 | 89 | V305V (GTC→GTG) | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base G (40/42); new base C (5/2); total (45/44) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.34e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.93e-01 | |||||||||||
ATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCG > Exported/2918713‑2918845 | aTCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGAc < 1:195660/71‑1 (MQ=255)aTCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAacac > 1:4587746/1‑71 (MQ=255)aTCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAacac > 1:1985400/1‑71 (MQ=255) aCCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCt < 1:2302600/70‑1 (MQ=255) aCCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCt < 1:4749531/70‑1 (MQ=255) aCCGCTTTGATAGTATGCATACGGTTTTCCG‑CTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtca > 1:5102262/1‑71 (MQ=255) ccGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtca < 1:447210/71‑1 (MQ=255) ccGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCtcg > 1:2910214/1‑70 (MQ=255) ccGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCtcg > 1:2938459/1‑70 (MQ=255) cGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtcat > 1:3119782/1‑71 (MQ=255) tttGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAg > 1:2536734/1‑71 (MQ=255) tGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGt < 1:961524/70‑1 (MQ=255) tGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGt < 1:1198552/70‑1 (MQ=255) gATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTg < 1:2907587/70‑1 (MQ=255) gATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTg < 1:3663839/70‑1 (MQ=255) aTAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc > 1:1402036/1‑71 (MQ=255) aTAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc < 1:1445269/71‑1 (MQ=255) tAGTATCCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACt < 1:5361374/71‑1 (MQ=255) gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc < 1:1345165/71‑1 (MQ=255) gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc < 1:2635760/71‑1 (MQ=255) gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc < 1:2452414/71‑1 (MQ=255) gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc < 1:3007956/71‑1 (MQ=255) tGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtcatca < 1:4097790/60‑1 (MQ=255) tGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa > 1:4739036/1‑70 (MQ=255) cATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCAtcc > 1:3895276/1‑69 (MQ=255) aTACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATAcc > 1:4716868/1‑71 (MQ=255) tACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc < 1:3943634/64‑1 (MQ=255) ccGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGc > 1:1221099/2‑71 (MQ=255) cGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGc > 1:4455993/1‑70 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGGCCTCATCAg > 1:2695654/1‑55 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtca > 1:2192111/1‑51 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtca > 1:5236522/1‑51 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtca > 1:5146430/1‑51 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAg > 1:2339251/1‑55 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc > 1:2323733/1‑70 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc < 1:1832383/70‑1 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc > 1:2264626/1‑70 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc > 1:1584815/1‑70 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc > 1:4756248/1‑70 (MQ=255) ttttCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGCCGTg < 1:818793/71‑1 (MQ=255) ttttCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGCCGTg < 1:2992857/71‑1 (MQ=255) ttttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATg < 1:1080511/71‑1 (MQ=255) ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATg > 1:627066/1‑69 (MQ=255) ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt < 1:1652947/70‑1 (MQ=255) ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt < 1:5079649/70‑1 (MQ=255) ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt < 1:132974/70‑1 (MQ=255) ccGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTa < 1:2975957/69‑1 (MQ=255) ccGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAg < 1:3210685/70‑1 (MQ=255) ccTGATCAAAAACAATGCTGGCGGCAGATTCGAAGAc > 1:3574575/1‑37 (MQ=255) ccTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCa < 1:4915402/71‑1 (MQ=255) cTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCa > 1:4355450/1‑70 (MQ=255) cTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCa > 1:1270875/1‑70 (MQ=255) gATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc < 1:1376599/46‑1 (MQ=255) aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCtcat < 1:2247571/38‑1 (MQ=255) aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCtcat < 1:2498425/38‑1 (MQ=255) aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc < 1:879623/48‑1 (MQ=255) aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt < 1:3617310/61‑1 (MQ=255) aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTa < 1:5396164/62‑1 (MQ=255) aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAt > 1:2346855/1‑70 (MQ=255) aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAt < 1:4201521/70‑1 (MQ=255) tCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAt < 1:487271/69‑1 (MQ=255) cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc > 1:885537/1‑43 (MQ=255) cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa > 1:3819288/1‑48 (MQ=255) cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa > 1:4886503/1‑48 (MQ=255) cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa > 1:243394/1‑48 (MQ=255) cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAg > 1:5607975/1‑61 (MQ=255) cAAAAACAATGCTGGCGGCAGATTCGAAGACCTAATCAGTGACTTCCa > 1:5198671/1‑48 (MQ=255) aaaaaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAgg > 1:2195743/1‑61 (MQ=255) aaaaaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAttctt > 1:1574564/1‑71 (MQ=255) aaaaaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAttctt > 1:1040042/1‑71 (MQ=255) aaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCg > 1:2308722/1‑71 (MQ=255) aCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATg > 1:2314143/1‑53 (MQ=255) aCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGc < 1:2687385/71‑1 (MQ=255) aCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGc > 1:234154/1‑71 (MQ=255) cAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTcc > 1:2137888/1‑68 (MQ=255) aaTGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCa > 1:4400442/1‑71 (MQ=255) aTGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCAt > 1:1178884/1‑71 (MQ=255) gCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATa > 1:254083/1‑40 (MQ=255) gcAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGcc < 1:3290718/71‑1 (MQ=255) gATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTc > 1:5507081/1‑63 (MQ=255) aTTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt < 1:1340324/38‑1 (MQ=255) aTTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCaaa < 1:2010187/46‑1 (MQ=255) aTTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCaaa < 1:3330796/46‑1 (MQ=255) aTTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCaaa < 1:1511454/46‑1 (MQ=255) aTTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGcc < 1:3529722/67‑1 (MQ=255) ttCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGcg < 1:4182252/71‑1 (MQ=255) tCGAAGACCTCATCAGTGACTTCCATACCGCCATGTa < 1:3882795/37‑1 (MQ=255) tCGAAGACCTCATCAGTGACTTCCATACCGCCATGTa < 1:1340242/37‑1 (MQ=255) tCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGcc > 1:4531460/1‑65 (MQ=255) tCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGc > 1:3393762/1‑69 (MQ=255) tCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGc > 1:434607/1‑69 (MQ=255) | ATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCG > Exported/2918713‑2918845 |
| 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: ‑ |