| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | minE | 2,918,979 | T→C | 7.8% | E239E (GAA→GAG) | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | minE | 2,918,979 | 0 | T | C | 7.8% | 257.7 / 11.3 | 90 | E239E (GAA→GAG) | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base T (51/32); new base C (5/2); total (56/34) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 7.06e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.29e-01 | |||||||||||
ACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTT > minE/2918909‑2919046 | aCTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCt < 1:3457765/71‑1 (MQ=255) cTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCtt < 1:948436/71‑1 (MQ=255) cTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCtt < 1:2237669/71‑1 (MQ=255) gCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTcc > 1:2768666/1‑71 (MQ=255) catcatCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTccc > 1:585629/1‑71 (MQ=255) atcTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTccccatc < 1:3901372/71‑4 (MQ=255) atcTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCa > 1:2545675/1‑70 (MQ=255) ttGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGa > 1:2551267/1‑71 (MQ=255) ttGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGa > 1:889573/1‑71 (MQ=255) ttGCTGTTCACCTGATATTCACGCAGCAATGCAATACGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGa > 1:73977/1‑71 (MQ=255) tGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACAcc > 1:249702/1‑71 (MQ=255) cgTTCACCTGATACCCGCGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACAcc < 1:2222881/70‑1 (MQ=255) ttCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCca < 1:2847787/71‑1 (MQ=255) tCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCAt < 1:2018299/61‑1 (MQ=255) cACCTGATACCCGCGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCcaca > 1:605667/1‑71 (MQ=255) aCCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCcaca > 1:3039307/1‑70 (MQ=255) ccTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATc < 1:1095336/59‑1 (MQ=255) cTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTccc > 1:474834/1‑53 (MQ=255) tGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCa > 1:1720744/1‑55 (MQ=255) tGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCa > 1:3618576/1‑55 (MQ=255) tGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGa < 1:3209557/59‑1 (MQ=255) atatTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCAt > 1:2483606/1‑54 (MQ=255) atatTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCAt > 1:1160846/1‑54 (MQ=255) atatTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGacac < 1:2452746/60‑1 (MQ=255) atatTAACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATc < 1:2266520/69‑1 (MQ=255) tatTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTcccc < 1:3254467/50‑1 (MQ=255) tatTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCgg < 1:1678059/70‑1 (MQ=255) tatTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCCGt < 1:1926732/71‑1 (MQ=255) atTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGTCACCCACACATCGGta > 1:795956/1‑71 (MQ=255) atTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCgg < 1:1665479/69‑1 (MQ=255) atTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGta > 1:558292/1‑71 (MQ=255) cACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTcccc > 1:1790900/1‑46 (MQ=255) cACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGta > 1:1378896/1‑68 (MQ=255) aCGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAg < 1:2325358/70‑1 (MQ=255) aCGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAg < 1:1465726/70‑1 (MQ=255) gcagcaATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGAt > 1:3417693/1‑70 (MQ=255) gcagcaATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATa < 1:2929801/71‑1 (MQ=255) agcaATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATaaa < 1:3002880/71‑1 (MQ=255) caatgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGt > 1:2884755/1‑71 (MQ=255) atgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGa < 1:2208449/43‑1 (MQ=255) atgcaatCCGTTCCGCCCATATCTCTTTTGCTTCCCCCATCGACACCCACACATCgg < 1:3095397/57‑1 (MQ=255) tgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGacac > 1:4089998/1‑45 (MQ=255) tgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCcac < 1:2757391/49‑1 (MQ=255) tgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGta > 1:3246022/1‑58 (MQ=255) tgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAg < 1:2892110/71‑1 (MQ=255) gcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGaca > 1:1106913/1‑43 (MQ=255) gcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGaca > 1:1116336/1‑43 (MQ=255) gcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAg > 1:3278866/1‑70 (MQ=255) caatCCGTTCCGCCCATTTCTCTTTTGCTTccccc > 1:712698/1‑35 (MQ=255) caatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGta > 1:442242/1‑56 (MQ=255) caatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGt > 1:3187149/1‑55 (MQ=255) caatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGc < 1:35147/70‑1 (MQ=255) caatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCa > 1:788911/1‑71 (MQ=255) caatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCa > 1:1749111/1‑71 (MQ=255) aatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGc < 1:2004618/69‑1 (MQ=255) aatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCAc < 1:1655502/71‑1 (MQ=255) atCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCAcc > 1:1118060/1‑71 (MQ=255) tCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCt > 1:1191696/1‑71 (MQ=255) ccGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCa > 1:3883369/1‑64 (MQ=255) ccGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCa > 1:1900714/1‑64 (MQ=255) ccGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGTATAGATAAAGTCCGCGccct > 1:3953663/1‑69 (MQ=255) cGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTc < 1:3473949/71‑1 (MQ=255) ttCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCaa < 1:2543313/71‑1 (MQ=255) ttCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCaa < 1:491313/71‑1 (MQ=255) cGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCgg < 1:1340670/44‑1 (MQ=255) ccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCt > 1:4072501/1‑71 (MQ=255) ccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCt > 1:4035780/1‑71 (MQ=255) cATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCtt > 1:207836/1‑71 (MQ=255) cATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCtt > 1:3879067/1‑71 (MQ=255) aTTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTc > 1:1376554/1‑71 (MQ=255) tttCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATa < 1:1956282/46‑1 (MQ=255) tttCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCa < 1:2886486/61‑1 (MQ=255) ttCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTcgc > 1:3351464/1‑71 (MQ=255) ttCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTcgc > 1:55714/1‑71 (MQ=255) ttCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTcgc > 1:1179593/1‑71 (MQ=255) ttCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAAcg < 1:3108798/63‑2 (MQ=255) tctcTTTTGCTTCCCCCATCGACACCCACACATCGGta > 1:1988104/1‑38 (MQ=255) tctcTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATaaa > 1:3149849/1‑46 (MQ=255) tctcTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGt < 1:2301328/48‑1 (MQ=255) tctcTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTc > 1:167274/1‑49 (MQ=255) tctcTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTcgc < 1:389013/70‑1 (MQ=255) tctcTTTGGCCTCGCCCATCGACACCCACACGTCGGTATAGATAAAGTCCGCGccct > 1:1783061/1‑55 (MQ=255) ctctTTTGCTTCCCCCATCGACACCCACACATCGGtata > 1:4041049/1‑39 (MQ=255) ctctTTTGCTTCCCCCATCGACACCCACACATCGGtata > 1:3681552/1‑39 (MQ=255) ctctTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTcgcg < 1:2465857/70‑1 (MQ=255) ctctTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTcgcg < 1:3346098/70‑1 (MQ=255) ctctTTGGCCTCGCCCATCGACACCCACACGTCGGTATAGAt > 1:4030659/1‑42 (MQ=25) ctctTTGGCCTCGCCCATCGACACCCACACGTCGGTATAGATaaa > 1:3599960/1‑45 (MQ=255) tctTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGa > 1:912239/1‑70 (MQ=255) ttttGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGa > 1:1207318/1‑68 (MQ=255) ttGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCt > 1:1708280/1‑71 (MQ=255) ttGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCt > 1:906231/1‑71 (MQ=255) tGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCtt > 1:2821745/1‑71 (MQ=255) | ACTGCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTT > minE/2918909‑2919046 |
| 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: ‑ |