| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,918,979 | T→C | 14.8% | E239E (GAA→GAG) | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,918,979 | 0 | T | C | 14.8% | 271.1 / 33.5 | 115 | E239E (GAA→GAG) | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base T (52/46); new base C (4/13); total (56/59) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 3.44e-02 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.73e-01 | |||||||||||
Only 100 of 118 total aligned reads displayed.
ACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTC > Exported/2918909‑2919047 | aCTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCt > 1:788734/1‑71 (MQ=255) gCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTcc > 1:1172182/1‑71 (MQ=255) gCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATACGTTCCGCCCATTTCTCTTTTGCTTcc > 1:55466/1‑71 (MQ=255) catcatCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTccc > 1:12627/1‑71 (MQ=255) atcTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCa < 1:600565/70‑1 (MQ=255) atcTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCAt < 1:642793/71‑1 (MQ=255) tGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGa > 1:2524563/1‑70 (MQ=255) gCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATc < 1:3348737/67‑1 (MQ=255) gCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATc < 1:4359960/67‑1 (MQ=255) gCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGaca > 1:4171258/1‑71 (MQ=255) cgcgTTCACCTGATACCCGCGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATc < 1:2524493/64‑1 (MQ=255) cgcgTTCACCTGATACCCGCGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATc < 1:2978611/64‑1 (MQ=255) cgcgTTCACCTGATACCCGCGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATc < 1:4659545/64‑1 (MQ=255) cgcgTTCACCTGATACCCGCGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATc < 1:2518542/64‑1 (MQ=255) cTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGacac < 1:2582553/71‑1 (MQ=255) tGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACAcc > 1:3312802/1‑71 (MQ=255) gTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACAcc > 1:4240909/1‑70 (MQ=255) tCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCca > 1:3972439/1‑70 (MQ=255) tCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCca > 1:4717875/1‑70 (MQ=255) cACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGa > 1:5014086/1‑63 (MQ=255) cACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGa > 1:863160/1‑63 (MQ=255) cTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCAta < 1:4452544/58‑2 (MQ=255) cTGATACCCGCGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCcacacgt < 1:3145386/71‑3 (MQ=255) tGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTccc < 1:106598/52‑1 (MQ=255) tGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCcacac < 1:3082147/68‑1 (MQ=255) gATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCg > 1:3528390/1‑71 (MQ=255) atatTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCgg > 1:1227457/1‑71 (MQ=255) tatTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACAccc > 1:2886880/1‑61 (MQ=255) ttCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCcac < 1:2729168/61‑1 (MQ=255) ttCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGtat < 1:2629652/71‑1 (MQ=255) cgcGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGTATAg < 1:2516815/69‑1 (MQ=255) cACGCAGCAATGCAATCCGTTCCTCCCATTTCTCTTTTGCTTCCCCCATCg < 1:1300520/51‑1 (MQ=255) cACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGaca > 1:2329009/1‑54 (MQ=255) cACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGaca > 1:774934/1‑54 (MQ=255) cACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGaca > 1:502640/1‑54 (MQ=255) cACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGaca > 1:1828083/1‑54 (MQ=255) cACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGtata < 1:4063829/70‑1 (MQ=255) cACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGta > 1:844675/1‑68 (MQ=255) gcGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGta > 1:4522728/2‑67 (MQ=255) cGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGa > 1:1364132/1‑70 (MQ=255) gcagcaGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGTATAGATa < 1:4846009/71‑1 (MQ=255) gcagcaGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGTATAGATa < 1:5687885/71‑1 (MQ=255) gcagcaATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATa < 1:3591582/71‑1 (MQ=255) cagcaATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATa > 1:3362456/1‑70 (MQ=255) gcaatgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACAcc < 1:2030868/50‑1 (MQ=255) caatgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATc < 1:4580514/43‑1 (MQ=255) aatgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCca > 1:1131958/1‑50 (MQ=255) atgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGt > 1:5590788/1‑69 (MQ=255) tgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGa < 1:1982120/42‑1 (MQ=255) tgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGa < 1:2491986/42‑1 (MQ=255) tgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAg < 1:2816233/71‑1 (MQ=255) gcaatCCGTTCCGCCCATTTCTCTTTTGCTTCACCCATCGACACCCACACATCGGTATAGATAAAGTCAg > 1:2352198/1‑70 (MQ=255) gcaatCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGtata > 1:4372634/1‑59 (MQ=255) caatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCcacaca > 1:5061525/1‑50 (MQ=255) caatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCcaca > 1:81178/1‑48 (MQ=255) caatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCcaca > 1:2840885/1‑48 (MQ=255) caatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCca > 1:4404464/1‑46 (MQ=255) caatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCa > 1:5453245/1‑68 (MQ=255) caatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCa > 1:2686812/1‑71 (MQ=255) caatCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGCCACCCACACGTCGG‑‑TAGATAAAGTCCGCGcc > 1:301910/1‑71 (MQ=255) tCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGc < 1:2691474/67‑1 (MQ=255) tCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGc < 1:1403631/67‑1 (MQ=255) tCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGc < 1:4840095/67‑1 (MQ=255) cGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGaca > 1:4227999/1‑37 (MQ=255) cGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGaca > 1:222059/1‑37 (MQ=255) cGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTc < 1:70331/71‑1 (MQ=255) tCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATaaa < 1:4610721/56‑1 (MQ=255) ccGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAg > 1:1860339/1‑60 (MQ=255) cGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGtat > 1:1695806/1‑47 (MQ=255) cccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGta > 1:4553246/1‑44 (MQ=255) cccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTccc < 1:3629874/71‑1 (MQ=255) cccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTccc < 1:3060935/71‑1 (MQ=255) cccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTccc > 1:5491266/1‑71 (MQ=255) cccACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAAcgc < 1:5240011/69‑3 (MQ=255) ccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCAc > 1:5649250/1‑59 (MQ=255) cATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGta > 1:202856/1‑42 (MQ=255) cATTTCACTTTTGCTTCCCCCATCGACCCCCACACATCGGta > 1:6130/1‑42 (MQ=38) aTTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATaaa < 1:3777394/49‑1 (MQ=255) aTTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATaaa < 1:5070797/49‑1 (MQ=255) ttCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGc > 1:2054529/1‑53 (MQ=255) ttCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGc > 1:2339786/1‑53 (MQ=255) ttCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGc > 1:5249031/1‑53 (MQ=255) ttCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTcgc > 1:4237013/1‑71 (MQ=255) ttCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTcgc > 1:1655064/1‑71 (MQ=255) ttCTCTTTTGCTTCCCCCATAGACACCCACACATCGGTATAGATAAAGt > 1:1567805/1‑49 (MQ=255) ttCTCTTTGGCCTCGCCCATCGACACCCACACGTCgg < 1:1492026/37‑1 (MQ=21) ttCTCTTTGGCCTCGCCCATCGACACCCACACGTCgg < 1:1199738/37‑1 (MQ=21) ttCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGtata < 1:1836673/41‑1 (MQ=25) tctcTTTTGCTTCCCCCATCGACACCCACACATCGGta > 1:5175639/1‑38 (MQ=255) tctcTTTTGCTTCCCCCATCGACACCCACACATCGGta > 1:5169201/1‑38 (MQ=255) tctcTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTc < 1:532981/49‑1 (MQ=255) tctcTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTc < 1:743526/49‑1 (MQ=255) tctcTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTc < 1:4978463/49‑1 (MQ=255) tctTTTGCTTCCCCCATCGACACACACACATCGGTATAGATAAAGTCAg < 1:1923211/49‑1 (MQ=255) ttttGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAg > 1:1170137/1‑47 (MQ=255) ttttGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGa < 1:2528728/68‑1 (MQ=255) ttGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACa < 1:4651977/68‑1 (MQ=255) ttGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCt > 1:5557643/1‑71 (MQ=255) gCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCtt < 1:2004203/70‑1 (MQ=255) cTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCtt < 1:2252240/69‑1 (MQ=255) | ACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTC > Exported/2918909‑2919047 |
| 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: ‑ |