| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | minE | 2,919,026 | C→T | 9.5% | E224K (GAA→AAA) ‡ | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | minE | 2,919,026 | 0 | C | T | 9.5% | 339.3 / 18.5 | 116 | E224K (GAA→AAA) ‡ | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base C (63/42); new base T (4/7); total (67/49) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.99e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.93e-01 | |||||||||||
Only 100 of 124 total aligned reads displayed.
CGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTCC > minE/2918956‑2919096 | cGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTc < 1:1222338/71‑1 (MQ=255)cGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTc < 1:657793/71‑1 (MQ=255) ccGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACt > 1:3360828/1‑71 (MQ=255) ccGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACt > 1:3549542/1‑71 (MQ=255) tgCCCACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAAc < 1:1736907/68‑1 (MQ=255) tgCCCACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAAc < 1:2711405/68‑1 (MQ=255) cGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAAc < 1:791799/69‑1 (MQ=255) cGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACt < 1:82081/70‑1 (MQ=255) gCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTcc > 1:303929/1‑71 (MQ=255) gCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTcc > 1:2096706/1‑71 (MQ=255) gCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTcc > 1:2737717/1‑71 (MQ=255) cATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCtt < 1:2408289/71‑1 (MQ=255) aTTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTc > 1:865566/1‑71 (MQ=255) tctcTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCaa > 1:271003/1‑60 (MQ=255) ttttGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTc > 1:3258529/1‑64 (MQ=255) tttGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTcg > 1:155172/1‑64 (MQ=255) tttGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATc > 1:2388753/1‑71 (MQ=255) cTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtc < 1:3931114/70‑1 (MQ=255) ttCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTc < 1:791210/48‑1 (MQ=255) cccccATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTcgc < 1:1820010/58‑1 (MQ=255) cccccATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtcagt > 1:95989/1‑70 (MQ=255) cccccATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtcagt > 1:2863978/1‑70 (MQ=255) cccccATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtcagt > 1:1219262/1‑70 (MQ=255) tcccATCGACACCCACACGTTGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtccgt < 1:3441947/68‑1 (MQ=255) ccccATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCt > 1:326320/1‑53 (MQ=255) cccATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTc < 1:490392/44‑1 (MQ=255) ccATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGc > 1:3161924/1‑71 (MQ=255) ccATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGc > 1:2915076/1‑71 (MQ=255) aTCGACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGt < 1:2063317/71‑1 (MQ=255) aTCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGt < 1:3177021/71‑1 (MQ=255) tCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtcagtc > 1:1165605/1‑65 (MQ=255) tCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGt > 1:235799/1‑70 (MQ=255) cGACAGCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGAc > 1:3020854/1‑54 (MQ=255) gACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTAat > 1:1921459/1‑71 (MQ=255) cacCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAatat < 1:3711650/71‑1 (MQ=255) acCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAatat > 1:3902274/1‑70 (MQ=255) acCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATAtt < 1:1168636/71‑1 (MQ=255) acCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATAtt > 1:3543402/1‑71 (MQ=255) ccACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTAATTTTcc < 1:2060057/71‑1 (MQ=255) ccACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTAATTTTcc > 1:3005535/1‑71 (MQ=255) ccACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTAATTTTcc > 1:3334330/1‑71 (MQ=255) cacacaTCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCtt < 1:376757/52‑1 (MQ=255) acacaTCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCcca > 1:2699161/1‑71 (MQ=255) acacaTCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCcca > 1:1314309/1‑71 (MQ=255) acacaTCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCcca > 1:3515815/1‑71 (MQ=255) acacaTCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCcca > 1:1935562/1‑71 (MQ=255) acgtCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTAATTTTCccgcc > 1:3201090/4‑71 (MQ=255) acaTCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGa > 1:2655714/1‑43 (MQ=255) acaTCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtcagt < 1:1967672/53‑1 (MQ=255) acaTCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCccac > 1:639797/1‑70 (MQ=255) cgtCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTAatt < 1:1630367/60‑2 (MQ=255) cgtCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTAATTTTCccgccg < 1:860477/69‑2 (MQ=255) caTCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCccacca < 1:3089366/71‑1 (MQ=255) aTCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtca < 1:1145214/49‑1 (MQ=255) aTCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCAt < 1:3451319/71‑1 (MQ=255) tCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtcagt < 1:1141565/50‑1 (MQ=255) cGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATAtt < 1:3456646/61‑1 (MQ=255) cGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATAtt < 1:3553276/61‑1 (MQ=255) cGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATAtt < 1:1350132/61‑1 (MQ=255) ggTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtca > 1:567349/1‑46 (MQ=255) taGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGc > 1:3874679/1‑48 (MQ=255) taGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCccacca < 1:2585125/63‑1 (MQ=255) aGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCtt > 1:2905724/1‑39 (MQ=255) aGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCtt > 1:2641522/1‑39 (MQ=255) gATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCtgt < 1:3665501/70‑1 (MQ=255) aTAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTTAGCGTAATATTCCCACCATTTTGCTGTGc > 1:2889754/1‑71 (MQ=255) aTAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCccacc < 1:2545858/59‑1 (MQ=255) tAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGcc < 1:9899/71‑1 (MQ=255) tAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGcc < 1:3176763/71‑1 (MQ=255) tAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGcc < 1:2433784/71‑1 (MQ=255) aaaGTCAGCACCTTCAACTCCCTTCGCGACATCTtcagt < 1:3244391/39‑1 (MQ=255) aaaGTCAGCACCTTCAACTCCCTTCGCGACATCTtcagt < 1:3239698/39‑1 (MQ=255) aaaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGc > 1:37007/1‑43 (MQ=255) aaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAata > 1:3357466/1‑48 (MQ=255) aaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCcca > 1:1276570/1‑54 (MQ=255) aaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAg > 1:3615354/1‑71 (MQ=255) aGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTcc > 1:3476320/1‑51 (MQ=255) gTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAggg > 1:1434391/1‑71 (MQ=255) tCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGgc < 1:582572/71‑1 (MQ=255) aGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAata > 1:1192768/1‑43 (MQ=255) aGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAata > 1:3084600/1‑43 (MQ=255) aGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCAtttt > 1:2586857/1‑56 (MQ=255) aGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGgcgc > 1:479238/1‑71 (MQ=255) cACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAat > 1:2086877/1‑40 (MQ=255) cACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCgg > 1:423687/1‑71 (MQ=255) cACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCgg > 1:2082138/1‑71 (MQ=255) aCCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCATGGCGCGGc < 1:2470564/71‑1 (MQ=255) ccTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCgg < 1:157461/69‑1 (MQ=255) ccTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCa > 1:227766/1‑71 (MQ=255) cTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGgcgc > 1:1313973/1‑66 (MQ=255) cTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCAt > 1:742471/1‑71 (MQ=255) ttCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGc < 1:3341676/52‑1 (MQ=255) ttCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCAtt > 1:1657205/1‑71 (MQ=255) tCAACTCCCTTCGCGACATCTTCAGTCAGCGTAatat < 1:1523738/37‑1 (MQ=255) tCAACTCCCTTCGCGACATCTTCAGTCAGCGTAatat < 1:1694219/37‑1 (MQ=255) tCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTccc > 1:2213138/1‑41 (MQ=255) tCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTc > 1:1101509/1‑71 (MQ=255) acAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCccacca > 1:1070518/2‑45 (MQ=255) cAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTcc > 1:698474/1‑71 (MQ=255) cAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTcc > 1:387851/1‑71 (MQ=255) | CGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTCC > minE/2918956‑2919096 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |