| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | 1 | 1,302,646 | C→A | P279H (CCT→CAT) | unknown → | Type III restriction‑modification system methylation subunit (EC 2.1.1.72) |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | 1 | 1,302,646 | 0 | C | A | 95.5% | 53.9 / ‑4.4 | 22 | P279H (CCT→CAT) | unknown | Type III restriction‑modification system methylation subunit (EC 2.1.1.72) |
| Reads supporting (aligned to +/- strand): ref base C (0/0); major base A (7/14); minor base G (0/1); total (7/15) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.33e-01 | |||||||||||
GCACTTGGTGGTGGATACGTCGCTTTTTGAGCCAAGTTTTCAGGCAGATATATTAAAAAACATTGAAGATCTAGATGAACAAACTAATGGCTTATTAATTCATTCCGATAATTTCCAAGCATTAAATTTATTGCAGGCAAGATATAAAGAACAGGTGAAATGTATTTATATTGATCCGCCGTATAATACAGAAAAAGATAGAATTGATGGAAAATTTGTCTATAAAGATGGCTATCCTCATTCTACATGGGCATCTTTTTTATATAATTTATCAAAAGCCTCCAAGAGCATTTTGAATAAAGATGCAATTTTTTTATCAAGTATTGATGATAATGAGATTATCAATCTGAAAAATATTTTAGATTATACTCTAGGTAAAGATAACTTTATTGATATTTTTTCTTGGCAAAAGACAACCACACCACCTAATTTATCTAAACAAACAAAACAAT > 1/1302410‑1302861 | gCACTTGGTGGTGGATACGTCGCTTTTTGAGCCAAGTTTTCAGGCAGATATATTAAAAAACATTGAAGATCTAGATGAACAAACTAATGGCTTATTAATTCATTCCGATAATTTCCAAGCATTAAATTTATTGCAGGCAAGATATAAAGAACAGGTGAAATGTATTTATATTGATCCGCCGTATAATACAGAAAAAGATAGAATTGATGGAAAATTTGTCTATAAAGATGGCTATCATCATTCTACATggg > 1:129838/1‑251 (MQ=255) tggtggATACGTCGCTTTTTGAGCCAAGTTTTCAGGCAGATATATTAAAAAACATTGAAGATCTAGATGAACAAACTAATGGCTTATTAATTCATTCCGATAATTTCCAAGCATTAAATTTATTGCAGGCAAGATATAAAGAACAGGTGAAATGTATTTATATTGATCCGCCGTATAATACAGAAAAAGATAGAATTGATGGAAAATTTGTCTATAAAGATGGCTATCATCATTCTACATGGGCATCttt < 1:404538/250‑1 (MQ=255) tattaATTCATTCCGATAATTTCCAAGCATTAAATTTATTGCAGGCAAGATATAAAGAACAGGTGAAATGTATTTATATTGATCCGCCGTATAATACAGAAAAAGATAGAATTGATGGAAAATTTGTCTATAAAGATGGCTATCATCATTCTACATg < 1:40407/157‑1 (MQ=255) cATTAAATTTATTGCAGGCAAGATATAAAGAACAGGTGAAATGTATTTATATTGATCCGCCGTATAATACAGAAAAAGATAGAATTGATGGAAAATTTGTCTATAAAGATGGCTATCATCATTCTACATGGGCATCTTTTTTATATAATTTATCAAAAGCCTCCAAGAGCATTTTGAATAAAGATGCAATTTTTTTATCAAGTATTGATGATAATGAGATTATCAATCTGAAAAATATTTTAGATTATAc < 1:596201/250‑1 (MQ=255) ttAAATTTATTGCAGGCAAGATATAAAGAACAGGTGAAATGTATTTATATTGATCCGCCGTATAATACAGAAAAAGATAGAATTGATGGAAAATTTGTCTATAAAGATGGCTATCATCATTCTACATGGGCATCTTTTTTATATAATTTATCAAAAGCCTCCAAGAGCATTTTGAATAAAGATGCAATTTTTTTATCAAGTATtgatg > 1:182174/1‑208 (MQ=255) gATATAAAGAACAGGTGAAATGTATTTATATTGATCCGCCGTATAATACAGAAAAAGATAGAATTGATGGAAAATTTGTCTATAAAGATGGCTATCATCATTCTACATGGGCATCTTTTTTATATAATTTATCAAAAg < 1:741165/138‑1 (MQ=255) gATATAAAGAACAGGTGAAATGTATTTATATTGATCCGCCGTATAATACAGAAAAAGATAGAATTGATGGAAAATTTGTCTATAAAGATGGCTATCATCATTCTACATGGGCATCTTTTTTATATAATTTATCAAAAGCCTCCAAGAGCATTTTGAATAAAGATGCAATTTTTTTATCAAGTATtgatg > 1:256955/1‑189 (MQ=255) gATATAAAGAACAGGTGAAATGTATTTATATTGATCCGCCGTATAATACAGAAAAAGATAGAATTGATGGAAAATTTGTCTATAAAGATGGCTATCATCATTCTACATGGGCATCTTTTTTATATAATTTATCAAAAGCCTCCAAGAGCATTTTGAATAAAGATGCAATTTTTTTATCAAGTATTGATGATAATgaga < 1:887312/198‑1 (MQ=255) gATATAAAGAACAGGTGAAATGTATTTATATTGATCCGCCGTATAATACAGAAAAAGATAGAATTGATGGAAAATTTGTCTATAAAGATGGCTATCATCATTCTACATGGGCATCTTTTTTATATAATTTATCAAAAGCCTCCAAGAGCATTTTGAATAAAGATGCAATTTTTTTATCAAGTATTGATGATAATg < 1:8893/195‑1 (MQ=255) atatAAAGAACAGGTGAAATGTATTTATATTGATCCGCCGTATAATACAGAAAAAGATAGAATTGATGGAAAATTTGTCTATAAAGATGGCTATCATCATTc < 1:361707/102‑1 (MQ=255) gTATTTATATTGATCCGCCGTATAATACAGAAAAAGATAGAATTGATGGAAAATTTGTCTATAAAGATGGCTATCATCATTCTACATg < 1:368111/88‑1 (MQ=255) gTATTTATATTGATCCGCCGTATAATACAGAAAAAGATAGAATTGATGGAAAATTTGTCTATAAAGATGGCTATCATCATTCTACATGGGCATCTTTTTTATATAATTTATCAAAAGCCTCCAAGAGCAt > 1:434224/1‑130 (MQ=255) tataTTGATCCGCCGTATAATACAGAAAAAGATAGAATTGATGGAAAATTTGTCTATAAAGATGGCTATCATCATTCTACATGGGCATCttt < 1:852979/92‑1 (MQ=255) tGATCCGCCGTATAATACAGAAAAAGATAGAATTGATGGAAAATTTGTCTATAAAGATGGCTATCGTCATTCTACATGGGCATCTTTTTTATATAATTTATCAAAAGCCTCCAAGAGCATTTTGAATAAAGATGCAATTTTTTTATCAAGTATTGATGATAATGAGATTATCAATCTGAAAAATATTTTAGATTATACTCTAGGTAAAGATAACTTTATTGATATTTTTTCTTGGCAAAAGACAaccacac < 1:570972/251‑1 (MQ=255) ccgccgTATAATACAGAAAAAGATAGAATTGATGGAAAATTTGTCTATAAAGATGGCTATCATCATTCTACATGGGCATCTTTTTTATATAATTTATCAAAAGCCTCCAAGAGCATTTTGAATAAAGATGCAATTTTTTTATCAAGTATTGATGATAATGAGATTATc < 1:514880/168‑1 (MQ=255) gccgTATAATACAGAAAAAGATAGAATTGATGGAAAATTTGTCTATAAAGATGGCTATCATCATTCTACATGGGCATCTTTTTTATATAATTTATCAAAAGCCTCCAAGAGCATTTTGAATAAAGATGCAATTTTTTTATCAAGTATTGATGATAATGAGATTATCAATCTGAAAAATATTTTAGATTATACTCTAGGTAAAGATAACTTTATTGATATTTTTTCTTGGCAAAAGACAACCACACCACCTa > 1:798706/1‑251 (MQ=255) gAAAAAGATAGAATTGATGGAAAATTTGTCTATAAAGATGGCTATCATCATTCTACATGGGCATCTTTTTTATATAATTTATCAAAAGCCTCCAAGAGCATTTTGAATAAAGa > 1:486267/1‑113 (MQ=255) gAAAAAGATAGAATTGATGGAAAATTTGTCTATAAAGATGGCTATCATCATTCTACATGGGCATCTTTTTTATATAATTTATCAAAAGCCTCCAAGAGCATTTTGAATAAAGATGCAATTTTTTTATCAAGTATTGATGATAATGAGAt < 1:16440/149‑1 (MQ=255) gAAAAAGATAGAATTGATGGAAAATTTGTCTATAAAGATGGCTATCATCATTCTACATGGGCATCTTTTTTATATAATTTATCAAAAGCCTCCAAGAGCATTTTGAATAAAGATGCAATTTTTTTATCAAGTATTGATGATAATGAGATTATCAAt < 1:203400/156‑1 (MQ=255) gTCTATAAAGATGGCTATCATCATTCTACATGGGCATCTTTTTTATATAATTTATCAAAAGCCTCCAAGAGCATTTTGAATAAAGATGCAATTTTTTTATCAAGTATTGATGATAATGAGATTATCAATCTGAAAAATATTTTAGATTATACTCTAGGTAAAGATAACTTTATTGATATTTTTTCTTGGCAAAAGACAACCACACCACCTAATTTATCTAAACAAACAAAACAAt < 1:602467/235‑1 (MQ=255) cTATAAAGATGGCTATCATCATTCTACATGGGCATCTTTTTtatat > 1:324100/1‑46 (MQ=255) tGGCTATCATCATTCTACATGGGCATCTTTTTTATATAATTTATCAAAAGCCTCCAAGAGCATTTTGAATAAAGATg < 1:516599/77‑1 (MQ=255) | GCACTTGGTGGTGGATACGTCGCTTTTTGAGCCAAGTTTTCAGGCAGATATATTAAAAAACATTGAAGATCTAGATGAACAAACTAATGGCTTATTAATTCATTCCGATAATTTCCAAGCATTAAATTTATTGCAGGCAAGATATAAAGAACAGGTGAAATGTATTTATATTGATCCGCCGTATAATACAGAAAAAGATAGAATTGATGGAAAATTTGTCTATAAAGATGGCTATCCTCATTCTACATGGGCATCTTTTTTATATAATTTATCAAAAGCCTCCAAGAGCATTTTGAATAAAGATGCAATTTTTTTATCAAGTATTGATGATAATGAGATTATCAATCTGAAAAATATTTTAGATTATACTCTAGGTAAAGATAACTTTATTGATATTTTTTCTTGGCAAAAGACAACCACACCACCTAATTTATCTAAACAAACAAAACAAT > 1/1302410‑1302861 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 38 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |