| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | minE | 2,919,369 | A→G | 6.7% | Y109Y (TAT→TAC) ‡ | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | minE | 2,919,369 | 0 | A | G | 6.7% | 255.1 / 8.3 | 89 | Y109Y (TAT→TAC) ‡ | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base A (47/36); new base G (4/2); total (51/38) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.60e-01 | |||||||||||
CATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTAT > minE/2919302‑2919439 | cATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAg > 1:2147751/1‑71 (MQ=255) aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGc > 1:540008/1‑71 (MQ=255) aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGc > 1:3316682/1‑71 (MQ=255) aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGc > 1:2857317/1‑71 (MQ=255) ttGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGcc < 1:2147108/71‑1 (MQ=255) ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc > 1:1400550/1‑71 (MQ=255) aGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa > 1:1298777/1‑69 (MQ=255) aGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGAt < 1:945720/70‑1 (MQ=255) aGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATa < 1:2571718/71‑1 (MQ=255) aTTCCATACCTGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGaa < 1:1788375/71‑1 (MQ=255) aTTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACt < 1:2951198/68‑1 (MQ=255) aTTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTg < 1:3825256/69‑1 (MQ=255) aTTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTg < 1:3489124/69‑1 (MQ=255) ttCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCa > 1:766114/1‑54 (MQ=255) ttCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa < 1:3525161/63‑1 (MQ=255) ttCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa < 1:3564948/63‑1 (MQ=255) ttCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGaa > 1:3602864/1‑70 (MQ=255) ttCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGaa > 1:2744934/1‑70 (MQ=255) ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa > 1:587775/1‑61 (MQ=255) aTACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCg < 1:547756/71‑1 (MQ=255) tACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc < 1:3470373/68‑1 (MQ=255) tACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAGCGt < 1:1016432/71‑1 (MQ=255) caCCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGt < 1:3084572/70‑1 (MQ=255) aCCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGt > 1:257623/1‑70 (MQ=255) ccGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa > 1:2075023/1‑71 (MQ=255) ccGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa > 1:3326762/1‑71 (MQ=255) ccGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa > 1:2365229/1‑71 (MQ=255) cGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCa > 1:2466837/1‑70 (MQ=255) cGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCa > 1:651248/1‑70 (MQ=255) gCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATAc < 1:3357700/71‑1 (MQ=255) gCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATAc < 1:2119899/71‑1 (MQ=255) gCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa < 1:4011572/64‑1 (MQ=255) cTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGaa > 1:1388457/1‑55 (MQ=255) cTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCg < 1:1613966/71‑1 (MQ=255) gCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGAc > 1:3695835/1‑70 (MQ=255) cGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGAcc > 1:1433522/1‑70 (MQ=255) cGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGAcc < 1:2830463/70‑1 (MQ=255) tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGAt < 1:1795073/43‑1 (MQ=255) tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTg < 1:3521037/47‑1 (MQ=255) tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTg < 1:1050227/47‑1 (MQ=255) tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGt < 1:2525052/55‑1 (MQ=255) tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGAcc < 1:168086/68‑1 (MQ=255) tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg < 1:1179099/71‑1 (MQ=255) aTTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg > 1:1365459/1‑70 (MQ=255) ttCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa > 1:449873/1‑71 (MQ=255) ttCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa > 1:1606350/1‑71 (MQ=255) tCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa > 1:2001516/1‑39 (MQ=255) ccGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAcg > 1:2587752/1‑71 (MQ=255) cGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGAcc < 1:1292680/63‑1 (MQ=255) cGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAAcc < 1:1021139/70‑2 (MQ=255) ccAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCAt < 1:1134790/51‑1 (MQ=255) aGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCg > 1:2856499/1‑56 (MQ=255) aGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGa > 1:3363395/1‑57 (MQ=255) gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCa < 1:253905/71‑1 (MQ=255) tgtTTCGATAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAg > 1:2243959/1‑71 (MQ=255) tgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAg > 1:2286494/1‑71 (MQ=255) tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATa < 1:2094733/46‑1 (MQ=255) tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATa > 1:1494379/1‑46 (MQ=255) ttCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGgtgt > 1:1877756/1‑71 (MQ=255) tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGt > 1:578407/1‑40 (MQ=255) tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGt > 1:811116/1‑40 (MQ=255) tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa > 1:3610495/1‑42 (MQ=255) tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa > 1:2151629/1‑42 (MQ=255) tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGAcc > 1:2718988/1‑53 (MQ=255) tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtgt < 1:1504363/70‑1 (MQ=255) gACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATa < 1:3222743/42‑1 (MQ=255) aCAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATa < 1:796291/41‑1 (MQ=255) cAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACa > 1:1724808/1‑42 (MQ=255) cAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCttt < 1:2495971/70‑1 (MQ=255) aaTCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCaa > 1:3081558/1‑50 (MQ=255) aaTCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCaa > 1:1678301/1‑50 (MQ=255) aaTCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCaa > 1:495885/1‑50 (MQ=255) aaTCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTaa < 1:3214295/71‑1 (MQ=255) aaTCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTaa > 1:1184423/1‑71 (MQ=255) aTCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAAt > 1:2553387/1‑71 (MQ=255) ctcCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTa > 1:3095037/1‑67 (MQ=255) ctcCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc > 1:4052687/1‑70 (MQ=255) ctcCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc > 1:597122/1‑70 (MQ=255) tcCTGACCATAGCCGCGATACTGAATACCGTCATACa > 1:240459/1‑37 (MQ=255) tcCTGACCATAGCCGCGATACTGAATACCGTCATACa > 1:373458/1‑37 (MQ=255) cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc < 1:685844/67‑1 (MQ=255) cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa < 1:1358783/69‑1 (MQ=255) cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:2786790/1‑69 (MQ=255) gACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa > 1:2257563/1‑45 (MQ=255) gACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtgt > 1:947401/1‑57 (MQ=255) gACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtgt > 1:309011/1‑57 (MQ=255) gACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGActct > 1:732057/1‑71 (MQ=255) gACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGActct > 1:1004185/1‑71 (MQ=255) aCCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGActc < 1:209558/69‑1 (MQ=255) cATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGActct < 1:1241767/68‑1 (MQ=255) aTAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGGGGGCAGTGTCTTTAATCGACTCTTTAt < 1:3481903/71‑1 (MQ=255) aTAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTa < 1:2810847/58‑1 (MQ=255) | CATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTAT > minE/2919302‑2919439 |
| 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: ‑ |