| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,919,042 | A→G | 12.5% | D218D (GAT→GAC) | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,919,042 | 0 | A | G | 12.5% | 321.1 / 31.0 | 128 | D218D (GAT→GAC) | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base A (64/48); new base G (5/11); total (69/59) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 6.34e-02 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.91e-01 | |||||||||||
Only 100 of 129 total aligned reads displayed.
TTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTCCGTAACCAGCGCAGCT > Exported/2918975‑2919111 | ttGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACa < 1:4651977/68‑1 (MQ=255)ttGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCt > 1:5557643/1‑71 (MQ=255) cTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtc < 1:4167243/70‑1 (MQ=255) cTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtc < 1:220242/70‑1 (MQ=255) cgcccATCGACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtccgt > 1:3276132/3‑70 (MQ=255) gcccATCGACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtccgt < 1:5155262/68‑1 (MQ=255) ccccATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtcagtca < 1:1016743/71‑1 (MQ=255) cATCGACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtccgtcagag > 1:2895963/1‑69 (MQ=255) cATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACAt > 1:3795003/1‑59 (MQ=255) cATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACAt > 1:1293607/1‑59 (MQ=255) cATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCg < 1:1275353/71‑1 (MQ=255) cATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCg > 1:2678923/1‑71 (MQ=255) cATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCg < 1:771674/71‑1 (MQ=255) aTCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGt < 1:1037820/71‑1 (MQ=255) aTCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGt < 1:4560752/71‑1 (MQ=255) tCGACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGt > 1:2500106/1‑70 (MQ=255) tCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGt < 1:5486764/70‑1 (MQ=255) tCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGt < 1:2239125/70‑1 (MQ=255) tCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTa < 1:915455/71‑1 (MQ=255) gACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtccgtcag > 1:5216762/1‑65 (MQ=255) gACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtcc < 1:273483/60‑2 (MQ=255) gACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtcc < 1:688040/60‑2 (MQ=255) gACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtcc < 1:1093968/60‑2 (MQ=255) gACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTaa < 1:44697/70‑1 (MQ=255) gACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa < 1:5400366/70‑1 (MQ=255) gACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa < 1:461701/70‑1 (MQ=255) gACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa < 1:4719430/70‑1 (MQ=255) gACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa > 1:201459/1‑70 (MQ=255) acacCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTAatt < 1:136832/71‑2 (MQ=255) cacCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAatat < 1:1667379/71‑1 (MQ=255) tCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCAtt > 1:1991553/1‑71 (MQ=255) cGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCAtt > 1:342343/1‑70 (MQ=255) ggTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCAttt < 1:2636554/70‑1 (MQ=255) gTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTaa < 1:4481423/55‑1 (MQ=255) tataGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa > 1:1914291/1‑54 (MQ=255) tataGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa > 1:1363853/1‑54 (MQ=255) tataGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGc < 1:5446279/71‑1 (MQ=255) ataGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa > 1:2976931/1‑53 (MQ=255) ataGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa > 1:4385411/1‑53 (MQ=255) ataGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGc < 1:2386782/70‑1 (MQ=255) ataGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCt > 1:3921898/1‑71 (MQ=255) taGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtca > 1:4240435/1‑42 (MQ=255) taGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCt < 1:2102710/70‑1 (MQ=255) aGATAAAGTCAGCACCTTCAACTCCCTTCGCGACAt > 1:1292258/1‑36 (MQ=255) aGATAAAGTCAGCACCTTCAACT‑CCTTCGCGACAt > 1:4044749/1‑35 (MQ=37) gATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGc > 1:4195790/1‑46 (MQ=255) gATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCtgtg > 1:2439887/1‑71 (MQ=255) gATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCtgt < 1:5064214/70‑1 (MQ=255) aTAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGc > 1:5286715/1‑71 (MQ=255) tAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAatat > 1:3745233/1‑51 (MQ=255) tAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAata > 1:3727373/1‑50 (MQ=255) tAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAata > 1:5605548/1‑50 (MQ=255) tAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAata > 1:1609225/1‑50 (MQ=255) tAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAata > 1:1751562/1‑50 (MQ=255) aaaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCAttt > 1:3638643/1‑61 (MQ=255) aaaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGc > 1:2641868/1‑69 (MQ=255) aaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAg > 1:935351/1‑71 (MQ=255) aaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAg > 1:606229/1‑71 (MQ=255) aaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAg < 1:4492103/71‑1 (MQ=255) aGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGgcgc > 1:1041422/1‑71 (MQ=255) aCCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCgg < 1:35028/70‑1 (MQ=255) ccTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCAtttt < 1:208186/52‑1 (MQ=255) cTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATAtt < 1:5339524/40‑1 (MQ=255) cTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCAt > 1:4823614/1‑71 (MQ=255) ttCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCa > 1:4510377/1‑59 (MQ=255) ttCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCa > 1:666973/1‑59 (MQ=255) ttCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCAtt > 1:1386446/1‑71 (MQ=255) tCAACTCCCTTCGCGACATCTTCAGTCAGCGTAat > 1:4782354/1‑35 (MQ=255) tCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTc > 1:5547072/1‑39 (MQ=255) tCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTc > 1:4715648/1‑71 (MQ=255) tCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTc > 1:4996846/1‑71 (MQ=255) tCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTc > 1:2743851/1‑71 (MQ=255) cAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTcc > 1:4661654/1‑39 (MQ=255) cAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTcc > 1:3922311/1‑39 (MQ=255) aaCTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTCCg > 1:697273/1‑71 (MQ=255) aCTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTCCGt < 1:3372853/71‑1 (MQ=255) aCTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTCCGt < 1:4291614/71‑1 (MQ=255) aCTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTCCGt < 1:5037019/71‑1 (MQ=255) cTTCGCGACATCTTCAGTCAGCGTAATATTCCGACCATTTTGCTGTGCCAGGGCGCGGCATTCCGTAACCa < 1:5120877/71‑1 (MQ=255) cTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGcgcg < 1:5394742/57‑1 (MQ=255) cTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGcgcg < 1:5401000/57‑1 (MQ=255) ttCGCGACATCTTCAGTCAGCGTAATATTCCCACCAt < 1:4871629/37‑1 (MQ=255) ttCGCGACATCTTCAGTCAGCGTAATATTCCCACCAt < 1:1781621/37‑1 (MQ=255) tCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCtg > 1:3723392/1‑43 (MQ=255) tCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCtg > 1:92718/1‑43 (MQ=255) tCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCtg > 1:1757182/1‑43 (MQ=255) tCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGc > 1:2160449/1‑57 (MQ=255) tCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTCCGTAACCAg > 1:2751549/1‑70 (MQ=255) cgcgACATCTTCAGTCAGCGTAATATTCCCACCAtt > 1:5184020/1‑36 (MQ=255) cgcgACATCTTCAGTCAGCGTAATATTCCCACCAtt > 1:1458917/1‑36 (MQ=255) cgcgACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTc > 1:2525677/1‑60 (MQ=255) cgcgACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTCCGTAACCAgcg > 1:4038999/1‑71 (MQ=255) cgcgACATATTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTc > 1:3179418/1‑60 (MQ=255) gcgACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTCCGTAACCAgcgc < 1:453202/71‑1 (MQ=255) cgACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGcc < 1:4567405/44‑1 (MQ=255) cgACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGcc < 1:5034985/44‑1 (MQ=255) cgACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGcc < 1:4953558/44‑1 (MQ=255) cgACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGcc < 1:216100/44‑1 (MQ=255) cgACATCTTCAGTCAGCGTAATATTCCCACAATTTTGCTGTGcc < 1:5589295/44‑1 (MQ=255) cATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTCCGTAACCAGCGCAGCt > 1:5349434/1‑71 (MQ=255) | TTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTCCGTAACCAGCGCAGCT > Exported/2918975‑2919111 |
| 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: ‑ |