| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 518,462 | T→C | 8.1% | A162A (GCT→GCC) | bioC → | predicted methltransferase, enzyme of biotin synthesis |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 518,462 | 0 | T | C | 8.1% | 292.8 / 12.2 | 98 | A162A (GCT→GCC) | bioC | predicted methltransferase, enzyme of biotin synthesis |
| Reads supporting (aligned to +/- strand): ref base T (50/40); new base C (3/5); total (53/45) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.64e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.42e-01 | |||||||||||
GTGCAGGGATCGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGTGCATTATCAACATCATATTCAG > Exported/518400‑518531 | gTGCAGGGATCGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCtt < 1:1988967/71‑1 (MQ=255)gTGCAGGGATCGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCtt < 1:5128151/71‑1 (MQ=255)gTGCAGGGATCGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCt < 1:5080112/70‑1 (MQ=255) tGCAGGGATCGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCttt > 1:2434456/1‑71 (MQ=255) tGCAGGGATCGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCttt > 1:1367528/1‑71 (MQ=255) tGCAGGGATCGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCttt > 1:734850/1‑71 (MQ=255) cAGGGATCGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCtttt < 1:1154541/70‑1 (MQ=255) cAGGGATCGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCtttt < 1:4534078/70‑1 (MQ=255) cAGGGATCGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCtttt > 1:1771631/1‑70 (MQ=255) gggATCGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTAc > 1:423378/1‑71 (MQ=255) gggATCGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTAc > 1:2888801/1‑71 (MQ=255) gggATCGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTAc < 1:4672327/71‑1 (MQ=255) gggATCGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTAc > 1:468346/1‑71 (MQ=255) aTCGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCg > 1:4216626/1‑70 (MQ=255) aTCGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCCAATc < 1:1549345/59‑1 (MQ=255) aTCGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCCAATc < 1:783644/59‑1 (MQ=255) aTCGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCCAATc < 1:4933948/59‑1 (MQ=255) aTCGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCCAATc < 1:1223384/59‑1 (MQ=255) aTCGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCCAATc < 1:1161108/59‑1 (MQ=255) cGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGc > 1:1472545/1‑69 (MQ=255) cGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGc > 1:4614896/1‑69 (MQ=255) cGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGc > 1:3960488/1‑69 (MQ=255) cGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCCAATCGc > 1:3774868/1‑59 (MQ=255) cGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCCAATCGc > 1:2818237/1‑59 (MQ=255) cGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCCAATCGc > 1:3261000/1‑59 (MQ=255) ttACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGc > 1:3713380/1‑67 (MQ=255) tACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGTGTCCGCATGCTAATCGCTTTTTACCGCCAGAt > 1:2859511/1‑71 (MQ=255) cTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCttttt < 1:3294516/53‑1 (MQ=255) cTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCttttt < 1:2726907/53‑1 (MQ=255) cTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCttttt < 1:2069959/53‑1 (MQ=255) cTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCttttt < 1:1183508/53‑1 (MQ=255) cTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGa < 1:183922/71‑1 (MQ=255) cTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATCCTAATCGCTTTTTACCGCCAGATGAAATCGa < 1:511429/71‑1 (MQ=255) tGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCTCATGCTAATCGCTTTTTACCGCCAGATGAAATCGa < 1:5125272/70‑1 (MQ=255) cATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGaa > 1:3682765/1‑69 (MQ=255) cATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACa < 1:4343135/71‑1 (MQ=255) tCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGt > 1:5039040/1‑71 (MQ=255) tCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGt > 1:2821991/1‑71 (MQ=255) tCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGt > 1:4689372/1‑71 (MQ=255) tCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGt > 1:3836281/1‑71 (MQ=255) cAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTc > 1:3851329/1‑71 (MQ=255) aGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCg < 1:5155383/71‑1 (MQ=255) cGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTg < 1:2781399/71‑1 (MQ=255) gTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCg > 1:2974511/1‑36 (MQ=255) gTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTg > 1:1978871/1‑70 (MQ=255) gTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTg > 1:2321744/1‑70 (MQ=255) gTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTg > 1:3094477/1‑70 (MQ=255) gTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTg > 1:4041075/1‑70 (MQ=255) gTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGa < 1:3262632/71‑1 (MQ=255) tGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGa < 1:2486048/70‑1 (MQ=255) gCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACg > 1:3244471/1‑71 (MQ=255) ggCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATc > 1:4786581/1‑52 (MQ=255) ggCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAAc > 1:4113361/1‑56 (MQ=255) ggCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAAc > 1:1640053/1‑56 (MQ=255) gCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGt < 1:2710796/71‑1 (MQ=255) gCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGt < 1:2563909/71‑1 (MQ=255) gTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGTg > 1:928552/1‑69 (MQ=255) tGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGcc < 1:414881/37‑1 (MQ=255) ggACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGTGCAt > 1:5046000/1‑70 (MQ=255) ggACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGTGCAt > 1:53605/1‑70 (MQ=255) ggACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGTGCAt > 1:4775969/1‑70 (MQ=255) gACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGTGCAtt < 1:1888899/70‑1 (MQ=255) gACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGTGCAtt < 1:4693640/70‑1 (MQ=255) gACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGTGCAtt < 1:679019/70‑1 (MQ=255) gACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGTGCAtt < 1:3909208/70‑1 (MQ=255) gACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGTGCAtt < 1:4167351/70‑1 (MQ=255) cGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGa > 1:4390357/1‑39 (MQ=255) cGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGaa > 1:185182/1‑46 (MQ=255) cGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGaa > 1:2893431/1‑46 (MQ=255) cGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGaa > 1:2957322/1‑46 (MQ=255) aGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGTGCATTATCaa < 1:2293400/71‑1 (MQ=255) aGCGGCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGTGCATTATCaa < 1:4442388/71‑1 (MQ=255) gCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGTGCATTATCaa > 1:3585513/1‑70 (MQ=255) cGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGACCGGCGTGCATTATCAAcatca > 1:4291952/1‑70 (MQ=255) cGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGTGCATTATCAAcatca > 1:4572135/1‑70 (MQ=255) gCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGTGCATTATCAACATCata < 1:3355021/71‑1 (MQ=255) cATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGTGCATTATCAACATCata < 1:3361246/70‑1 (MQ=255) aTGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTg < 1:680207/44‑1 (MQ=255) aTGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTg < 1:690448/44‑1 (MQ=255) aTGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTg < 1:96865/44‑1 (MQ=255) aTGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTg < 1:787562/44‑1 (MQ=255) aTGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTg < 1:3570382/44‑1 (MQ=255) aTGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTg < 1:3445894/44‑1 (MQ=255) aTGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTg < 1:2646227/44‑1 (MQ=255) aTGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTg < 1:1324808/44‑1 (MQ=255) aTGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTg < 1:1344208/44‑1 (MQ=255) aTGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTg < 1:1835249/44‑1 (MQ=255) cTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACgg > 1:4319675/1‑46 (MQ=255) cTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACgg > 1:5099843/1‑46 (MQ=255) cTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACgg > 1:2461341/1‑46 (MQ=255) cTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACgg > 1:1343401/1‑46 (MQ=255) cTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACgg > 1:1873302/1‑46 (MQ=255) cTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGTGCATTATCAACATCATATTCa > 1:5083277/1‑70 (MQ=255) cTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGTGCATTATCAACATCATATTCAg > 1:1732425/1‑71 (MQ=255) cTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGTGCATTATCAACATCATATTCAg > 1:1383973/1‑71 (MQ=255) cTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGTGCATTATCAACATCATATTCAg > 1:1859830/1‑71 (MQ=255) cTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGTGCATTATCAACATCATATTCAg > 1:676031/1‑71 (MQ=255) cTAATCGCTTTTTACCGCCAGATGAAAACGAACAGTCGCTGAACGGAGTGCATTATCAACATCATATTCAg > 1:2473511/1‑71 (MQ=255) | GTGCAGGGATCGTTACCCGAACTGCATCAGGCGTGGCAGGCGGTGGACGAGCGTCCGCATGCTAATCGCTTTTTACCGCCAGATGAAATCGAACAGTCGCTGAACGGCGTGCATTATCAACATCATATTCAG > Exported/518400‑518531 |
| 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: ‑ |