| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 232,901 | C→T | 58.7% | intergenic (‑140/+30) | hemB ← / ← ykiB | porphobilinogen synthase/hypothetical protein |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 232,901 | 0 | C | T | 58.7% | 29.3 / 67.8 | 63 | intergenic (‑140/+30) | hemB/ykiB | porphobilinogen synthase/hypothetical protein |
| Reads supporting (aligned to +/- strand): ref base C (7/19); new base T (14/23); total (21/42) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.24e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.46e-01 | |||||||||||
GCGATGTTGACAAGAAGAGAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAACTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGGTTATTATTTTTTGGAGTTTGG > Exported/232837‑232968 | gcgATGTTGACAAGAAGAGAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTtata < 1:2929584/71‑1 (MQ=255) gATGTTGACAAGAAGAGAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATAtt < 1:2139062/71‑1 (MQ=255) gATGTTGACAAGAAGAGAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAACTTTATAtt < 1:5074305/71‑1 (MQ=255) aTGTTGACAAGAAGAGAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATAtt > 1:2662273/1‑70 (MQ=255) tGTTGACAAGAAGAGAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCa > 1:2468873/1‑71 (MQ=255) aCAAGAAGAGAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTc < 1:2832149/65‑1 (MQ=255) agaagaGAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGaaaa > 1:3900960/1‑70 (MQ=255) agaagaGAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAACTTTatat < 1:4767454/60‑1 (MQ=255) aagaGAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAACTTTATATTc > 1:4871433/1‑60 (MQ=255) agagAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAatat < 1:5641685/70‑1 (MQ=255) gagaATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAACTTTATATTCACTGAAAATAttt < 1:5615426/71‑1 (MQ=255) gagaATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAACTTTATATTCACTGAAAATAttt < 1:256780/71‑1 (MQ=255) gaATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTc > 1:5427913/1‑56 (MQ=255) aaTGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTa < 1:3284849/71‑1 (MQ=255) aaTGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAACttt < 1:397576/49‑1 (MQ=255) aaTGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAACTTTATATTCACTGAAAATAttttt > 1:524096/1‑70 (MQ=255) gAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCt > 1:3759149/1‑71 (MQ=255) aaGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTa < 1:2242839/66‑1 (MQ=255) gagGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTtat > 1:450990/1‑42 (MQ=255) gagGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATAtt > 1:5470276/1‑45 (MQ=255) gagGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATAtt > 1:2429901/1‑45 (MQ=255) agGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCtttattt < 1:5184751/71‑1 (MQ=255) agGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCtttatt < 1:1035991/70‑1 (MQ=255) gCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTttatttat < 1:5639625/71‑1 (MQ=255) gACATCTTTTTAATAGAAACAGCAATAACTTTATATTCACTGAAAATATTTTTa < 1:4693547/54‑1 (MQ=255) cATCTTTTTAATAGAAACAGCAATAACTTTATATTCACTGAAAata > 1:1007049/1‑46 (MQ=255) cATCTTTTTAATAGAAACAGCAATAACTTTATATTCACTGAAAata > 1:1031448/1‑46 (MQ=255) cATCTTTTTAATAGAAACAGCAATAACTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGtt > 1:839019/1‑71 (MQ=255) aTCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCtttat < 1:3496616/59‑1 (MQ=255) tttttAATAGAAACAGCAATAATTTTATATTCACTGAAAATAttt > 1:3919040/1‑45 (MQ=255) tttttAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCtttatt < 1:2958326/57‑1 (MQ=255) tttttAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGGt > 1:5231601/1‑70 (MQ=255) tttttAATAGAAACAGCAATAACTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGc < 1:3134472/63‑1 (MQ=255) tttttAATAGAAACAGCAATAACTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGc < 1:3459387/63‑1 (MQ=255) tttttAATAGAAACAGCAATAACTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGc < 1:191558/63‑1 (MQ=255) tttAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCtttatt < 1:697747/55‑1 (MQ=255) tttAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCtttat > 1:5137880/1‑54 (MQ=255) tttAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGGt < 1:2524299/68‑1 (MQ=255) tttAATAGAAACAGCAATAACTTTATATTCACTGAAAATATTTTTAATCt > 1:2148306/1‑50 (MQ=255) tAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCtttatt < 1:4123630/50‑1 (MQ=255) tAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGGTTATTAttt < 1:4339360/71‑1 (MQ=255) tAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGGTTATTAttt > 1:2586505/1‑71 (MQ=255) tAGAAACAGCAATAACTTTATATTCACTGAAAATATTTTTAATCtttat < 1:1021017/49‑1 (MQ=255) tAGAAACAGCAATAACTTTATATTCACTGAAAATATTTTTAATCtttat < 1:3421625/49‑1 (MQ=255) aGAAACAGCAATAACTTTATATTCACTGAAAATATTTTTAATCtttat < 1:554990/48‑1 (MQ=255) gAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGGTTATTAtttt < 1:2371485/70‑1 (MQ=255) gAAACAGCAATAACTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGGTTATTAttttt < 1:402528/71‑1 (MQ=255) gAAACAGCAATAACTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGGTTATTAttttt < 1:395982/71‑1 (MQ=255) gAAACAGCAATAACTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGGTTATTAtttt < 1:2591260/70‑1 (MQ=255) aaaCAGCAATAATTTTATTTTCACTGAAAATATTTTTAATCttta < 1:2596045/45‑1 (MQ=38) aaaCAGCAATAATTTTATATTCACTGAAAATATTTTTAATCtttat < 1:3956401/46‑1 (MQ=255) aaaCAGCAATAATTTTATAATCACTGAAAATATTTTTAATCttta < 1:90607/45‑1 (MQ=38) aaCAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGGTTATTATTTTTTg < 1:2625964/71‑1 (MQ=255) aaCAGCAATAACTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCt > 1:249193/1‑53 (MQ=255) aCAGCAATAATTTTATATTCACTGAAAATATTTTTAATCtttatt > 1:3918499/1‑45 (MQ=255) aCAGCAATAATTTTATATTCACTGAAAATATTTTTAATCtttatt > 1:3766119/1‑45 (MQ=255) aCAGCAATAACTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGc < 1:804284/51‑1 (MQ=255) gCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGGTTATTATTTTTTGGAGt < 1:4819461/71‑1 (MQ=255) cAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGGTTATTATTTTTTGGAGtt < 1:2705373/71‑1 (MQ=255) aataatTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGGTTATTATTTTTTGGAGttt < 1:5356455/71‑1 (MQ=255) tAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGGTTATTATTTTTTGGAGTTTgg < 1:1120363/71‑1 (MQ=255) tAACTTTATATTCACTGAAAATATTTTTAATCttt < 1:502377/35‑1 (MQ=255) tAACTTTATATTCACTGAAAATATTTTTAATCttt < 1:3099125/35‑1 (MQ=255) tAACTTTATATTCACTGAAAATATTTTTAATCttt < 1:2406958/35‑1 (MQ=255) | GCGATGTTGACAAGAAGAGAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAACTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGGTTATTATTTTTTGGAGTTTGG > Exported/232837‑232968 |
| 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: ‑ |