| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,919,577 | T→A | 11.8% | E40V (GAA→GTA) | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,919,577 | 0 | T | A | 11.8% | 245.1 / 22.4 | 93 | E40V (GAA→GTA) | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base T (36/46); new base A (5/6); total (41/52) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 6.60e-01 | |||||||||||
Only 100 of 105 total aligned reads displayed.
GAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGG > Exported/2919507‑2919647 | gAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGctt < 1:176865/71‑1 (MQ=255) agagCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGcttct > 1:1687932/1‑70 (MQ=255) agCATCTGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGcttcttc < 1:5378828/70‑1 (MQ=255) gCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGcttc > 1:1738901/1‑66 (MQ=255) gggTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGcttct > 1:163657/1‑62 (MQ=255) gggTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCg > 1:3633395/1‑71 (MQ=255) ggTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGc > 1:2542096/1‑71 (MQ=255) cgagtcgagtCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCtttt < 1:2151520/71‑1 (MQ=255) cgagtcgagtCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCttt < 1:1872522/70‑1 (MQ=255) gtcgagtcTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCtt < 1:4875748/71‑1 (MQ=255) gtcgagtcTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCtt < 1:4606374/71‑1 (MQ=255) tcgagtcTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGcttcttc < 1:4788046/55‑1 (MQ=255) gagtcTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGcttcttcat > 1:1111453/1‑53 (MQ=255) agtcTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATc < 1:4496425/70‑1 (MQ=255) agtcTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCg < 1:3189601/71‑1 (MQ=255) tcTTTTTCGAAGATGAGCGCGATGTTTTTACCGGTAAGCTTCTGTACTTCCTTGCCATTTTTTTTATCGGc < 1:892347/71‑1 (MQ=255) tttttCGAAGATGAGCGCGATGTTTTTTCCAGTGAGTTTGGCTTCTTCTTTACCGCttt < 1:3720964/59‑1 (MQ=255) tttttCGAAGATGAGCGCGATGTTTTTACCGGTAAGCTTCTGTACTTCCTTGCCATTTTTTTTATCGGCtt > 1:1066549/1‑71 (MQ=255) tttttCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTAcc < 1:4653121/54‑1 (MQ=255) tttttCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTAc > 1:1500129/1‑53 (MQ=255) tttttCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCttt < 1:836030/59‑1 (MQ=255) tttttCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCttt < 1:3109575/59‑1 (MQ=255) tttCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGc > 1:4436992/1‑54 (MQ=255) tttCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATc > 1:3489964/1‑64 (MQ=255) tttCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATc > 1:2838773/1‑64 (MQ=255) tttCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCttt < 1:3048147/70‑1 (MQ=255) tttCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCttt > 1:2972686/1‑70 (MQ=255) tttCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCtt < 1:2952393/69‑1 (MQ=255) tttCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCt < 1:3648799/68‑1 (MQ=255) ttCGAAGATGAGCGCGATGTTTTTACCGGTAAGCTTCTGTACTTCCTTGCCATTTTTTTTATCGGCtttg < 1:4069147/70‑2 (MQ=255) ttCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGcttcttctt < 1:4276065/47‑1 (MQ=255) ttCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCttt > 1:5548960/1‑69 (MQ=255) ttCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTc < 1:4869782/70‑1 (MQ=255) tCGAAGATGAGCGCGATGTTTTTACCGGTAAGCTTCTGTACTTCCTTGCCATTTTTTTTATCGGCTTTGAg > 1:67537/1‑71 (MQ=255) tCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGcttcttctt > 1:3784716/1‑46 (MQ=255) gAAGATGAGCGGGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCt < 1:3950715/71‑1 (MQ=255) gAAGATGAGCGCGATGTTTTTACCGGTAAGCTTCTGTACTTCCTTGCCATTTTTTTTATCGGCTTTGAGCt < 1:1862618/71‑1 (MQ=255) gAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCa < 1:1361473/68‑1 (MQ=255) gAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCt < 1:3297626/71‑1 (MQ=255) aaGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCtt < 1:5082994/71‑1 (MQ=255) aaGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCATTCAGCtt < 1:4292735/71‑1 (MQ=255) aGATGAGCGCGATGTTTTTACCGGTAAGCTTCTGTACTTCCTTGCCATTTTTTTTATCGGCTTTGAGCtgt > 1:3697866/1‑69 (MQ=255) aGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCtt < 1:3693964/70‑1 (MQ=255) aGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTc > 1:3863955/1‑71 (MQ=255) gATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTcg < 1:3450634/71‑1 (MQ=255) aTGAGCGCGATGTTTTTACCGGTAAGCTTCTGTACTTCCTTGCCATTTTTTTTATCGGCtttg < 1:3547569/63‑2 (MQ=255) tGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTcgcg > 1:3365949/1‑71 (MQ=255) tGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTcgcg > 1:1689694/1‑71 (MQ=255) tGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTcgcg > 1:1786043/1‑71 (MQ=255) tgcgcGATTTTTTTACCAGTGAGTTTGGCTTCTTCttt < 1:5185375/37‑1 (MQ=38) aGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCtttt > 1:4260061/1‑47 (MQ=255) aGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTACTTTACCGCtttt > 1:652379/1‑47 (MQ=255) gcgcGATGTTTTTACCGGTAAGCTTCTGTACTTCCTTGCCATTTTTTTTATCGGCt > 1:1133370/1‑56 (MQ=255) gcgcGATGTTTTTACCGGTAAGCTTCTGTACTTCCTTGCCATTTTTTTTATCGGCTTTGAGCTGTGCGGca < 1:246471/71‑2 (MQ=255) gcgcGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCt < 1:1198427/71‑1 (MQ=255) cgcgATGTTTTTACCGGTAAGCTTCTGTACTTCCTTGCCATTTTTTTTATCGGCtttga > 1:2565545/1‑57 (MQ=255) gcgATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTaa < 1:5586578/71‑1 (MQ=255) gcgATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTaa < 1:1695396/71‑1 (MQ=255) gcgATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTa < 1:615408/70‑1 (MQ=255) aTGTTTTTACCGGTAAGCTTCTGTACTTCCTTGCCATTTTTTTTATCGGCTTTGAg < 1:4165/56‑1 (MQ=255) tGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCg > 1:5546672/1‑35 (MQ=255) tGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTgc < 1:5593071/71‑1 (MQ=255) tGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTgc < 1:915484/71‑1 (MQ=255) tGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTg > 1:4691741/1‑70 (MQ=255) gTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGc > 1:3147086/1‑35 (MQ=255) gTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCa > 1:913339/1‑53 (MQ=255) gTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCa > 1:2638289/1‑53 (MQ=255) gTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACt > 1:3403086/1‑68 (MQ=255) tttttACCAGTGAGTTTGGCTTCTTCTTTACCGCtttt < 1:486361/38‑1 (MQ=255) tttttACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTgcag > 1:3826290/1‑71 (MQ=255) ttttACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATc > 1:514493/1‑43 (MQ=255) ttttACCAGTGAGATTGGCTTCTTCTTTACCGCTTTTCTTATCGGCttta > 1:157661/1‑49 (MQ=255) tttACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCtt > 1:2322836/1‑39 (MQ=255) tttACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCtt > 1:266719/1‑39 (MQ=255) tttACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCtt > 1:2908816/1‑39 (MQ=255) tttACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCttt > 1:1046939/1‑48 (MQ=255) tttACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGc > 1:1053741/1‑52 (MQ=255) tttACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTgcagc < 1:532089/70‑1 (MQ=255) tttACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTgcag > 1:4765830/1‑69 (MQ=255) gTGAGTTTGGCTTCTTCTTTACCGGTTTTCTTATc > 1:4427888/1‑35 (MQ=255) gTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATc > 1:3231310/1‑35 (MQ=255) gTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGtt > 1:3736610/1‑71 (MQ=255) tGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGcagcag < 1:1345453/64‑1 (MQ=255) tGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGcagcag < 1:167875/64‑1 (MQ=255) tGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTg < 1:589972/71‑1 (MQ=255) tGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTg < 1:693170/71‑1 (MQ=255) tGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTg < 1:2613338/71‑1 (MQ=255) tGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTg < 1:287974/71‑1 (MQ=255) gAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTg < 1:451904/70‑1 (MQ=255) aGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTcg > 1:2059986/1‑46 (MQ=255) aGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAg < 1:911438/71‑1 (MQ=255) gTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGt < 1:4839649/71‑1 (MQ=255) tGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGt > 1:2005583/1‑68 (MQ=255) tGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTc < 1:2651351/70‑1 (MQ=255) tGGCTTCTTCTTTAACGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGtt > 1:3853368/1‑69 (MQ=255) ggCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCa < 1:3822507/70‑1 (MQ=255) ggCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCa < 1:4072116/70‑1 (MQ=255) cttcttcttTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCt < 1:2409586/44‑1 (MQ=255) tcttcttTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTgg > 1:556325/1‑71 (MQ=255) tcttcttTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTgg > 1:4182835/1‑71 (MQ=255) | GAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGG > Exported/2919507‑2919647 |
| 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: ‑ |