| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,918,796 | T→C | 6.0% | E300E (GAA→GAG) | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,918,796 | 0 | T | C | 6.0% | 234.2 / 3.7 | 83 | E300E (GAA→GAG) | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base T (38/40); new base C (3/2); total (41/42) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 6.76e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
TAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGGTCGTCATGAAAC > Exported/2918726‑2918865 | tAGTATCCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACt < 1:5361374/71‑1 (MQ=255) gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc < 1:2452414/71‑1 (MQ=255) gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc < 1:2635760/71‑1 (MQ=255) gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc < 1:3007956/71‑1 (MQ=255) gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc < 1:1345165/71‑1 (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) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc > 1:4756248/1‑70 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc > 1:1584815/1‑70 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc < 1:1832383/70‑1 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc > 1:2323733/1‑70 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc > 1:2264626/1‑70 (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 < 1:132974/70‑1 (MQ=255) ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt < 1:5079649/70‑1 (MQ=255) ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt < 1:1652947/70‑1 (MQ=255) ccGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTa < 1:2975957/69‑1 (MQ=255) ccGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAg < 1:3210685/70‑1 (MQ=255) ccTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCa < 1:4915402/71‑1 (MQ=255) cTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCa > 1:4355450/1‑70 (MQ=255) cTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCa > 1:1270875/1‑70 (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) cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa > 1:243394/1‑48 (MQ=255) cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa > 1:3819288/1‑48 (MQ=255) cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa > 1:4886503/1‑48 (MQ=255) cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAg > 1:5607975/1‑61 (MQ=255) cAAAAACAATGCTGGCGGCAGATTCGAAGACCTAATCAGTGACTTCCa > 1:5198671/1‑48 (MQ=255) aaaaaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAgg > 1:2195743/1‑61 (MQ=255) aaaaaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAttctt > 1:1040042/1‑71 (MQ=255) aaaaaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAttctt > 1:1574564/1‑71 (MQ=255) aaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCg > 1:2308722/1‑71 (MQ=255) aCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATg > 1:2314143/1‑53 (MQ=255) aCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGc > 1:234154/1‑71 (MQ=255) aCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGc < 1:2687385/71‑1 (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 < 1:1511454/46‑1 (MQ=255) aTTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCaaa < 1:3330796/46‑1 (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) ccTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTgg < 1:2863999/71‑1 (MQ=255) catcaGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGgtcg > 1:2329362/1‑71 (MQ=255) atcaGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGc > 1:336684/1‑53 (MQ=255) atcaGTAACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGttt > 1:9642/1‑65 (MQ=255) atcaGTAACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGttt > 1:3158/1‑65 (MQ=255) tcaGTGACTTCCATACCGCCATGTAGGCCAAAttct < 1:2308195/36‑1 (MQ=255) tcaGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGttt < 1:1716639/64‑1 (MQ=255) caGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGGTCGTCa > 1:3211959/1‑71 (MQ=255) aGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGGTCGTCAt < 1:4536450/71‑1 (MQ=255) aGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGGTCGTCAt > 1:3955391/1‑71 (MQ=255) aGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGGTCGTCAt > 1:3066760/1‑71 (MQ=255) gTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCtt < 1:262123/47‑1 (MQ=255) gTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGgtcg > 1:5034903/1‑66 (MQ=255) tGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCAttt < 1:1504065/42‑1 (MQ=255) tGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGtt < 1:272027/59‑1 (MQ=255) tGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGtt < 1:1916432/59‑1 (MQ=255) tGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTg < 1:2790097/61‑1 (MQ=255) tGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGGTCGTCATGa < 1:1019896/71‑1 (MQ=255) aCTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGc > 1:1321065/1‑51 (MQ=255) cTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGGTCGTCATGAAAc < 1:4055129/71‑1 (MQ=255) cTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGAGTCGTTTGGTCGTCATGAAAc < 1:841406/71‑1 (MQ=255) ttCCATACCGCCATGTAGGCCAAATTCTTCCGCCAtttt < 1:2863700/39‑1 (MQ=255) ttCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGtt < 1:586546/55‑1 (MQ=255) | TAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGGTCGTCATGAAAC > Exported/2918726‑2918865 |
| 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: ‑ |