| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_002947 | 1,861,946 | C→A | 7.5% | D17Y (GAC→TAC) | purM ← | phosphoribosylformylglycinamidine cyclo‑ligase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_002947 | 1,861,946 | 0 | C | A | 7.5% | 166.9 / 3.5 | 53 | D17Y (GAC→TAC) | purM | phosphoribosylformylglycinamidine cyclo‑ligase |
| Reads supporting (aligned to +/- strand): ref base C (24/25); new base A (2/2); total (26/27) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.90e-01 | |||||||||||
CCGTCGGTGCCGGAGACCAGCACCGGCTGCTTGTAGCCGGCCGGGATCTCGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTAGGAGGGAGGGATTCTTAAAAACGACCATGACGGCCAAGGCCGGCTGATAAGCGGCGGCGGT‑CTGAAACGTCAGTGGTCTGTGAAG > NC_002947/1861798‑1862094 | ccGTCGGTGCCGGAGACCAGCACCGGCTGCTTGTAGCCGGCCGGGATCTCGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTc < 4:69856/149‑1 (MQ=255) gTCGGTGCCGGAGACCAGCACCGGCTGCTTGTAGCCGGCCGGGATCTCGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGa > 5:269441/1‑149 (MQ=255) tCGGTGCCGGAGACCAGCACCGGCTGCTTGTAGCCGGCCGGGATCTCGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGAt < 3:176412/149‑1 (MQ=255) ggTGCCGGAGACCAGCACCGGCTGCTTGTAGCCGGCCGGGATCTCGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGt > 4:74248/1‑149 (MQ=255) ccGGAGACCAACACCGGCTGCTTGTAGCCGGCCGGGATCTCGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTa < 5:50636/148‑1 (MQ=255) gagaCCAGCACCGGCTGCTTGTAGCCGGCCGGGATCTCGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGAt > 8:128644/1‑140 (MQ=255) gagaCCAGCACCGGCTGCTTGTAGCCGGCCGGGATCTCGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGAt < 7:128644/140‑1 (MQ=255) cAGCACCGGCTGCTTGTAGCCGGCCGGGATCTCGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTacaagatag > 3:182441/1‑142 (MQ=255) cAGCACCGGCTGCTTGTAGCCGGCCGGGATCTCGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTac < 4:182441/141‑1 (MQ=255) cAGCACCGGCTGCTTGTAGCCGGCCGGGATCTCGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGt > 4:99051/1‑149 (MQ=255) cAGCACCGGCTGCTTGTAGCCGGCAGGGATCTCGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGAGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCAGGCGTCGATCTCTACACCGGCga > 7:255499/1‑148 (MQ=255) gCACCGGCTGCTTGTAGCCGGCCGGGATCTCGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTcc < 6:269441/149‑1 (MQ=255) gCACCGGCTGCTTGTAGCCGGCCGGGATCTCGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATCACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTCCGCCGGCGTCGATGTCTACACCGGCGTcc < 1:24326/149‑1 (MQ=255) ccGGCTGCTTGTAGCCGGCCGGGATCTCGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATTACTTCAGGGCGTGCGGTGCGTT‑TCAGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCtt < 1:96389/149‑1 (MQ=255) ccGGCTGCTTGTAGCCGGCCGGGATCTCGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTg < 3:299635/149‑1 (MQ=255) cGGCTGCTTGTAGCCGGCCGGGATCTCGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGt < 6:191315/149‑1 (MQ=255) ggCTGCTTGTAGCCGGCCGGGATCTCGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTa < 2:264732/149‑1 (MQ=255) ctTGTAGCCGGCCGGGATCTCGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCATT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCa < 2:60201/149‑1 (MQ=255) cggGATCTCGCAGAGGGCGCCGAATCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGttgct > 7:47069/1‑149 (MQ=255) gATCTCGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGttgcttgc < 3:74248/149‑1 (MQ=255) gATCTCGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGACGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGttgcttgc > 1:75510/1‑149 (MQ=255) ctcGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCg < 3:240474/118‑1 (MQ=255) ctcGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCg > 4:240474/1‑118 (MQ=255) gCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCAtt < 4:183466/148‑1 (MQ=255) gCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCAt < 8:47069/147‑1 (MQ=255) gCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTg < 8:173320/149‑1 (MQ=255) gcgcCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGagctaca < 3:99051/149‑7 (MQ=255) gcCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGTGTAGACATCGACGCCgg > 5:150227/1‑104 (MQ=255) gcCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGTGTAGACATCGACGCCgg < 6:150227/104‑1 (MQ=255) gccgccCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTag > 1:30421/1‑148 (MQ=255) gccCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGA‑CAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTAggaggg > 4:157206/1‑149 (MQ=255) ccATGACTTCAGGGCGTGCGGTGCGTTGT‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGttgc > 1:177875/1‑111 (MQ=255) ccATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGCCGAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTAGGAGGGAGGGATTCt > 3:247337/1‑148 (MQ=255) ccATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGttgc < 2:177875/110‑1 (MQ=255) ccATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTAGGAGGGAGGGATTCt > 8:66294/1‑148 (MQ=255) ttCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTAGGAGGGAGGGATTCTTAAAAAc > 3:91978/1‑148 (MQ=255) aGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGATTCGCCGGCGTCGATGTCTACACCGGCGTCATTGTAGCTCAGGGAGGGTTGCTTGCTAATTGATCCAGGCCTGTAGGAGGGAGGGATTCTTAAAAACGAc > 5:175876/1‑148 (MQ=255) gCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTAGGAGGGAGGGATTCTTAAAAACGACCAt > 3:309876/1‑148 (MQ=255) aCGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTAGGAGGGAGGGATTCTTAAAAACGa > 5:146766/1‑125 (MQ=255) aCGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTAGGAGGGAGGGATTCTTAAAAACGa < 6:146766/125‑1 (MQ=255) gCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTAGGAGGGAGGGATTCTTAAAAACGACCATGACGGCCAAGGCCGGCTGATaa < 7:66294/149‑1 (MQ=255) gTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTAGGAGGGAGGGATTCTTAAAAACGACCATGACGGCCAAGGCCGGCTGATAAGCGGCGGCGGt > 6:153309/1‑149 (MQ=255) gACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTAGGAGGGAGGGATTCTTAAAAACGACCATGACGGCCAAGGCCGGCTGATAAGCGGCGGCGGT‑CTg > 8:186852/1‑148 (MQ=255) aCCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTAGGAGGGAGGGATTCTTAAAAACGACCATGACGGCCAAGGCCGGCTGATAAGCGGCGGCGGT‑CTGaa < 4:309876/149‑1 (MQ=255) ccAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTAGGAGGGAGGGATTCTTAAAAACGACCATGACGGCCAAGGCCGGCTGATAAGCGGCGGCGGT‑CTGaaa < 5:153309/149‑1 (MQ=255) ccAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTAGGAGGGAGGGATTCTTAAAAACGACCATGACGGCCAAGGCCGGCTGATAAGCGGCGGCGGT‑CTGaaa < 2:75510/149‑1 (MQ=255) cAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTAGGAGGGAGGGATTCTTAAAAACGACCATGACGGCCAAGGCCGGCTGATAAGCGGCGGCGGT‑CTGAAAc > 8:178033/1‑149 (MQ=255) gTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTAGGAGGGAGGGATTCTTAAAAACGACCATGACGGCCAAGGCCGGCTGATAAGCGGCGGCGGT‑CTGAAACGt > 3:195564/1‑149 (MQ=255) aaggacGCCGGTGTAGACATCGACGCCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTAGGAGGGAGGGATTCTTAAAAACGACCATGACGGCCAAGGCCGGCt > 7:296156/6‑123 (MQ=38) aaggacGCCGGTGTAGACATCGACGCCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTAGGAGGGAGGGATTCTTAAAAACGACCATGACGGCCAAGGCCGGCt < 8:296156/118‑1 (MQ=38) cTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGGTTGGTCATTGATCCAGGGCGTTAGGAGGGAGGGATTCTTAAAATCGTCCATGACGGCCAAGGCCGGCTGATAAGCGGCGGGGGTGCTGaagggt > 1:272816/1‑143 (MQ=255) cTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTAGGAGGGAGGGATTCTTAAAAACGACCATGACGGCCAAGGCCGGCTGATAAGCGGCGGCGGT‑CTGAAACGTCAg < 7:186852/149‑1 (MQ=255) cTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTAGGAGGGAGGGATTCTTAAAAACGACCATGACGGCCAAGGCCGGCTGATAAGCGGCGGCGGT‑CTGAAACGTCAg < 4:91978/149‑1 (MQ=255) cGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTAGGAGGGAGGGATTCTTAAAAACGACCATGACGGCCAAGGCCGGCTGATAAGCGGCGGCGGT‑CTGAAACGTCAGTgg > 7:247000/1‑149 (MQ=255) cGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTAGGAGGGAGGGATTCTTAAAAACGACCATGACGGCCAAGGCCGGCTGATAAGCGGCGGCGGT‑CTGAAACGTCAGTGGTCTGTGAAg > 2:186192/1‑149 (MQ=255) | CCGTCGGTGCCGGAGACCAGCACCGGCTGCTTGTAGCCGGCCGGGATCTCGCAGAGGGCGCCGAAGCCGCCCAGGCCACCCATGACTTCAGGGCGTGCGGTGCGTT‑T‑TGCCACGCCCTTGATGCGTTCGACCAGTGCTTCGCCGGCGTCGATGTCTACACCGGCGTCCTTGTAGCTCAGGGAGGGTTGCTTGCTCATTGATCCAGGCCTTTAGGAGGGAGGGATTCTTAAAAACGACCATGACGGCCAAGGCCGGCTGATAAGCGGCGGCGGT‑CTGAAACGTCAGTGGTCTGTGAAG > NC_002947/1861798‑1862094 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |