| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913 | 2,622,348:1 | +A | 11.8% | coding (115/639 nt) | purN → | phosphoribosylglycinamide formyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913 | 2,622,348 | 1 | . | A | 11.8% | 243.7 / 33.7 | 68 | coding (115/639 nt) | purN | phosphoribosylglycinamide formyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base . (31/29); new base A (4/4); total (35/33) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.39e-01 | |||||||||||
GATTCCGAACAACGCGTGGTTATCGAATAATGAATATTGTGGTGCTTATTTCCGGCAACGGAAGTAATTTACAGGCAATTATTGACGCCTGTAAAACCAACAAAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATGAAATCGACATGTACGCACCCGATGTGGTCGTGCTGGCTGGTT > NC_000913/2622205‑2622495 | gATTCCGAACAACGCGTGGTTATCGAATAATGAATATTGTGGTGCTTATTTCCGGCAACGGAAGTAATTTACAGGCAATTATTGACGCCTGTAAAACCAACAAAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑Acgcg > 4:30569/1‑149 (MQ=255) aacGCGTGGTTATCGAATAATGAATATTGTGGTGCTTATTTCCGGCAACGGAAGTAATTTACAGGCAATTATTGACGCCTGTAAAACCAACAAAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTg < 3:30569/149‑1 (MQ=255) atGAATATTGTGGTGCTTATTTCCGGCAACGGAAGTAATTTACAGGCAATTATTGACGCCTGTAAAACCAACAAAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGACCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCggg < 1:867511/149‑1 (MQ=255) cTTATTTCCGGCAACGGAAGTAATTTACAGGCAATTATTGACGCCTGTACAACCAACAAAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAAc < 3:1017517/118‑1 (MQ=255) cTTATTTCCGGCAACGGAAGTAATTTACAGGCAATTATTGACGCCTGTAAAACCAACAAAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAAc > 4:1017517/1‑118 (MQ=255) aCGGAAGTAATTTACAGGCAATTATTGACGCCTGTAAAACCAACAAAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAgc > 4:1076698/1‑149 (MQ=255) cGGAAGTAATTTACAGGCAATTATTGACGCCTGTAAAACCAACAAAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAgcg < 3:1076698/149‑1 (MQ=255) gTAATTTACAGGCAATTATTGACGCCTGTAAAACCAACAAAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAAc < 1:360656/99‑1 (MQ=255) gTAATTTACAGGCAATTATTGACGCCTGTAAAACCAACAAAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAAc > 2:360656/1‑99 (MQ=255) tAATTTACAGGCAATTATTGACGCCTGTAAAACCAACAAAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGa > 3:719446/1‑96 (MQ=255) tAATTTACAGGCAATTATTGACGCCTGTAAAACCAACAAAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGa < 4:719446/96‑1 (MQ=255) gCAATTATTGACGCCTGTAAAACCAACAAAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGa > 2:968520/1‑149 (MQ=255) tAAAACCAACAAAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACa < 1:95000/125‑1 (MQ=255) tAAAACCAACAAAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACa > 2:95000/1‑125 (MQ=255) aaaCCAACAAAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTAt < 1:782244/137‑1 (MQ=255) aaaCCAACAAAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTAt > 2:782244/1‑137 (MQ=255) caacaaAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGcc < 2:1354622/59‑1 (MQ=255) caacaaAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGcc > 1:1354622/1‑59 (MQ=255) caacaaAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTc > 2:501891/1‑149 (MQ=255) aacaaAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGa < 1:1305773/116‑1 (MQ=255) aacaaAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGa > 2:1305773/1‑116 (MQ=255) caaAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATg < 1:968520/149‑1 (MQ=255) aaaaTTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGTGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATGa > 1:196266/1‑149 (MQ=255) aaaaTTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTAtt < 3:552525/81‑1 (MQ=255) aaaaTTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTAtt > 4:552525/1‑81 (MQ=255) aaaaTTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCa > 4:1425661/1‑103 (MQ=255) aaaaTTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCa < 3:1425661/103‑1 (MQ=255) aaaaTTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTc > 1:754929/1‑145 (MQ=255) aaaaTTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTc < 2:754929/145‑1 (MQ=255) aaaTTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGc > 4:399321/1‑87 (MQ=255) aaaTTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGc < 3:399321/87‑1 (MQ=255) aaGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGTGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATGAAATCGAc < 2:196266/149‑1 (MQ=255) gCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATGAAATCGACAt < 1:839740/148‑1 (MQ=255) gCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATGAAATCGACAt > 2:839740/1‑148 (MQ=255) aCCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATg > 4:712099/1‑136 (MQ=255) aCCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATg < 3:712099/136‑1 (MQ=255) ggCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATGAAATCGACATGTACGCACCCg > 1:1041924/1‑149 (MQ=255) gCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGttt > 2:572187/1‑90 (MQ=255) gCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGttt < 1:572187/90‑1 (MQ=255) gCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATGAAAt < 4:513453/131‑1 (MQ=255) gCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATGAAAt > 3:513453/1‑131 (MQ=255) gTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATGAAATCGACa > 1:1330700/1‑133 (MQ=255) gTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATGAAATCGACa < 2:1330700/133‑1 (MQ=255) ttttCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATGAAATCGACATGTACGCACCCGAtgtg > 4:1450167/1‑149 (MQ=255) aaTAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGt < 2:596439/76‑1 (MQ=255) aaTAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGt > 1:596439/1‑76 (MQ=255) aaGGCCGAACGCG‑TCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATGAAATCGACATGTAc < 1:708947/126‑1 (MQ=255) aaGGCCGAACGCG‑TCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATGAAATCGACATGTAc > 2:708947/1‑126 (MQ=255) aGGCCGAACGCG‑TCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCgg > 2:482793/1‑98 (MQ=255) aGGCCGAACGCG‑TCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCgg < 1:482793/98‑1 (MQ=255) aGGCCGAACGCG‑TCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCgg > 3:731434/1‑98 (MQ=255) aGGCCGAACGCG‑TCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCgg < 4:731434/98‑1 (MQ=255) aGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATGAAATCGa > 1:899905/1‑118 (MQ=255) aGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATGAAATCGa < 2:899905/118‑1 (MQ=255) aGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATGAAATCGACATGTACGCACCCGATGTGGTCGTgctggct > 1:259147/1‑149 (MQ=255) ggCCGAACGCG‑TCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGa < 2:1417445/104‑1 (MQ=255) ggCCGAACGCG‑TCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGa > 1:1417445/1‑104 (MQ=255) ggCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGAt > 1:1063891/1‑105 (MQ=255) ggCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGAt < 2:1063891/105‑1 (MQ=255) ggCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTc > 2:1162998/1‑107 (MQ=255) ggCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTc < 1:1162998/107‑1 (MQ=255) ggCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATGAAATCGACATGTACGCACCCGATGTGGTCGTgctggctg > 4:1406986/1‑149 (MQ=255) gCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATg > 3:79584/1‑91 (MQ=255) gCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATg < 4:79584/91‑1 (MQ=255) gCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATGAAATCGACATGTACGCACCCGATGTGGTCGTGctggctgg > 4:1040410/1‑149 (MQ=255) ccG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATGAAATCGACATGTACGCACCCGATGTGGTCGTGCTGGCTGGt < 3:1406986/149‑1 (MQ=255) cG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATGAAATCGACATGTACGCACCCGATGTGGTCGTGCTGGCTGGtt < 2:259147/149‑1 (MQ=255) cG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATGAAATCGACATGTACGCACCCGATGTGGTCGTGCTGGCTGGtt < 1:501891/149‑1 (MQ=255) | GATTCCGAACAACGCGTGGTTATCGAATAATGAATATTGTGGTGCTTATTTCCGGCAACGGAAGTAATTTACAGGCAATTATTGACGCCTGTAAAACCAACAAAATTAAAGGCACCGTACGGGCAGTTTTCAGCAATAAGGCCG‑ACGCGTTCGGCCTTGAACGCGCCCGCCAGGCGGGTATTGCAACGCATACGCTCATCGCCAGCGCGTTTGACAGTCGTGAAGCCTATGACCGGGAGTTGATTCATGAAATCGACATGTACGCACCCGATGTGGTCGTGCTGGCTGGTT > NC_000913/2622205‑2622495 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 34 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |