| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,918,967 | T→C | 15.6% | K243K (AAA→AAG) | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,918,967 | 0 | T | C | 15.6% | 254.3 / 34.3 | 109 | K243K (AAA→AAG) | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base T (50/42); new base C (4/13); total (54/55) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 3.26e-02 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.70e-01 | |||||||||||
Only 100 of 113 total aligned reads displayed.
GTTACCGGTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTT > Exported/2918898‑2919035 | gTTACCGGTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCAtt > 1:4211400/1‑71 (MQ=255)gTTACCGGTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCAtt > 1:3883246/1‑71 (MQ=255) tACCGGTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTtc > 1:4648703/1‑71 (MQ=255) tACCGGTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTtc > 1:654500/1‑71 (MQ=255) gTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCttt < 1:4446752/71‑1 (MQ=255) gTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCttt < 1:3909831/71‑1 (MQ=255) tCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCttt > 1:2566120/1‑70 (MQ=255) cAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTg > 1:4825135/1‑71 (MQ=255) cAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTg > 1:3841676/1‑71 (MQ=255) aCTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGc < 1:820439/70‑1 (MQ=255) aCTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCt > 1:788734/1‑71 (MQ=255) gCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTcc > 1:1172182/1‑71 (MQ=255) gCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATACGTTCCGCCCATTTCTCTTTTGCTTcc > 1:55466/1‑71 (MQ=255) catcatCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCtttt > 1:2016626/1‑64 (MQ=255) catcatCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTccc > 1:12627/1‑71 (MQ=255) atcTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCa < 1:600565/70‑1 (MQ=255) atcTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCAt < 1:642793/71‑1 (MQ=255) tcTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCAt > 1:452886/1‑50 (MQ=255) tcTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCAt > 1:160127/1‑50 (MQ=255) tGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGa > 1:2524563/1‑70 (MQ=255) gCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATc < 1:4359960/67‑1 (MQ=255) gCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATc < 1:3348737/67‑1 (MQ=255) gCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGaca > 1:4171258/1‑71 (MQ=255) cgcgTTCACCTGATACCCGCGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATc < 1:2978611/64‑1 (MQ=255) cgcgTTCACCTGATACCCGCGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATc < 1:2518542/64‑1 (MQ=255) cgcgTTCACCTGATACCCGCGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATc < 1:2524493/64‑1 (MQ=255) cgcgTTCACCTGATACCCGCGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGac < 1:1653285/67‑1 (MQ=255) cTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGacac < 1:2582553/71‑1 (MQ=255) tGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACAcc > 1:3312802/1‑71 (MQ=255) gTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACAcc > 1:2576412/1‑70 (MQ=255) gTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACAcc > 1:4240909/1‑70 (MQ=255) ttCACCTGATACCCGCGCAGCAGCGCAATCCGCTCTGCCCACTTCTCttt < 1:5267366/50‑1 (MQ=12) ttCACCTGATACCCGCGCAGCAGCGCAATCCGCTCTGCCCACTTCTCttt < 1:1534884/50‑1 (MQ=12) ttCACCTGATACCCGCGCAGCAGCGCAATCCGCTCTGCCCACTTCTCttt < 1:1533444/50‑1 (MQ=12) tCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCca > 1:4717875/1‑70 (MQ=255) tCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCca > 1:3972439/1‑70 (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 < 1:1257813/71‑1 (MQ=255) atatTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCgg > 1:1227457/1‑71 (MQ=255) tatTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACAccc > 1:2886880/1‑61 (MQ=255) ttCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCcac < 1:2729168/61‑1 (MQ=255) ttCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCcac < 1:5481089/61‑1 (MQ=255) ttCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGtat < 1:5155714/71‑1 (MQ=255) ttCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGtat < 1:2629652/71‑1 (MQ=255) cACGCAGCAATGCAATCCGTTCCTCCCATTTCTCTTTTGCTTCCCCCATCg < 1:1300520/51‑1 (MQ=255) cACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGaca > 1:502640/1‑54 (MQ=255) cACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGaca > 1:2329009/1‑54 (MQ=255) cACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGaca > 1:774934/1‑54 (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) aCGCAGCAATGCAATCCGTTCCGCCCATTTCTCttt < 1:434065/36‑1 (MQ=255) cGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGa > 1:1364132/1‑70 (MQ=255) gcagcaGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGTATAGATa < 1:5687885/71‑1 (MQ=255) gcagcaGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGTATAGATa < 1:4846009/71‑1 (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) atgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATTGATaaa < 1:7510/67‑1 (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) gcaatCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGta > 1:4387439/1‑57 (MQ=255) caatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCcacaca > 1:5061525/1‑50 (MQ=255) caatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCcaca > 1:81178/1‑48 (MQ=255) caatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCcaca > 1:2840885/1‑48 (MQ=255) caatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCa > 1:5453245/1‑68 (MQ=255) caatCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGCCACCCACACGTCGG‑‑TAGATAAAGTCCGCGcc > 1:301910/1‑71 (MQ=255) atCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCAcc < 1:5682900/71‑1 (MQ=255) tCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGc < 1:4840095/67‑1 (MQ=255) tCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGc < 1:2691474/67‑1 (MQ=255) tCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGc < 1:3498023/67‑1 (MQ=255) cGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGaca > 1:222059/1‑37 (MQ=255) cGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGaca > 1:4227999/1‑37 (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 < 1:3060935/71‑1 (MQ=255) cccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTccc > 1:5491266/1‑71 (MQ=255) cccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTccc < 1:3629874/71‑1 (MQ=255) cccACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAAcgc < 1:5240011/69‑3 (MQ=255) ccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCAc > 1:5649250/1‑59 (MQ=255) cATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGta > 1:202856/1‑42 (MQ=255) cATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCtt < 1:1871039/71‑1 (MQ=255) cATTTCACTTTTGCTTCCCCCATCGACCCCCACACATCGGta > 1:6130/1‑42 (MQ=38) aTTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATaaa < 1:3777394/49‑1 (MQ=255) | GTTACCGGTCAACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTT > Exported/2918898‑2919035 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |