Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 5,882,092 | A→G | 7.0% | Q218R (CAG→CGG) ‡ | serA → | bifunctional D‑3‑phosphoglycerate dehydrogenase/alpha‑ketoglutarate reductase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 5,882,092 | 0 | A | G | 7.0% | 163.0 / 2.3 | 57 | Q218R (CAG→CGG) ‡ | serA | bifunctional D‑3‑phosphoglycerate dehydrogenase/alpha‑ketoglutarate reductase |
Reads supporting (aligned to +/- strand): ref base A (27/26); new base G (2/2); total (29/28) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.76e-01 |
TGGCTGAGAACATGGGCATGCAGGTGTACTTCTTCGACCCGCTGACCAAGCTGCCACTGGGCAACGCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCTGCCATCAAGGACAAGCACCTGATCGGCGCCGCCATCGACG > NC_002947/5881945‑5882232 | tGGCTGAGAACATGGGCATGCAGGTGTACTTCTTCGACCCGCTGACCAAGCTGCCACTGGGCAACGCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAg > 5:182949/1‑149 (MQ=255) gCTGAGAACATGGGCATGCAGGTGTACTTCTTCGACCCGCTGACCAAGCTGCCACTGGGCAACGCCGTGCAGGTCACCAGCCGGAACGAGCTGCTGGTCCTGGCTGACATCGTCTCGCTGCACCTGCCTGAGCTGCCATCCACCCAGTg > 3:234658/1‑149 (MQ=255) tGGGCATGCAGGTGTACTTCTTCGACCCGCTGACCAAGCTGCCACTGGGCAACGCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGc < 8:249438/149‑1 (MQ=255) gggCATGCGGGTGTACTTCTTCGACCCGCTGACCAAGCTGCCACTGGGCAACGCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGc > 3:291548/1‑148 (MQ=255) ggCATGCAGGTGTACTTCTTCGACCCGCTGACCAAGCTGCCACTGGGCAACGCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCga < 6:182949/149‑1 (MQ=255) aTGCAGGTGTACTTCTTCGACCCGCTGACCAAGCTGCCACTGGGCAACGCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGaa < 6:164224/149‑1 (MQ=255) aCTTCTTCGACCCGCTGACCAAGCTGCCACTGGGCAACGCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGc < 8:204980/134‑1 (MQ=255) aCTTCTTCGACCCGCTGACCAAGCTGCCACTGGGCAACGCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGc > 7:204980/1‑134 (MQ=255) cGACCCGCTGACCAAGCTGCCACTGGGCAACGCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATg < 7:718/148‑1 (MQ=255) gACCCGCTGACCAAGCTGCCACTGGGCAACGCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATgaa < 6:192091/149‑1 (MQ=255) cccGCTGACCAAGCTGCCACTGGGCAACGCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGAt > 1:196669/1‑144 (MQ=255) cccGCTGACCAAGCTGCCACTGGGCAACGCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGAt < 2:196669/144‑1 (MQ=255) ccGCTGACCAAGCTGCCACTGGGCAACGCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACTGGGTGgatggca > 7:25153/1‑117 (MQ=255) ccGCTGACCAAGCTGCCACTGGGCAACGCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACTGGGTGgatggca < 8:25153/120‑4 (MQ=255) ccGCTGACCAAGCTGCCACTGGGCAACGCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGAt < 5:318521/143‑1 (MQ=255) ccGCTGACCAAGCTGCCACTGGGCAACGCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGAt > 6:318521/1‑143 (MQ=255) gCTGACCAAGCTGCCACTGGGCAACGCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAgg < 2:228199/149‑1 (MQ=255) tGACCAAGCTGCCACTGGGCAACGCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGgc > 6:83322/1‑149 (MQ=255) aCCAAGCTGCCACTGGGCAACGCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGgcgc < 4:291548/149‑1 (MQ=255) ccACTGGGCAACGCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGAt < 3:336085/149‑1 (MQ=255) cACTGGGCAACGCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGa > 2:196644/1‑115 (MQ=255) aCTGGGCAACGCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATc > 7:69037/1‑148 (MQ=255) gCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAAt > 2:105957/1‑107 (MQ=255) gCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAAt < 1:105957/107‑1 (MQ=255) ggTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCt < 8:170853/126‑1 (MQ=255) ggTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCt > 7:170853/1‑126 (MQ=255) aCCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGt > 1:46463/1‑149 (MQ=255) gCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAg < 5:160945/149‑1 (MQ=255) gAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGacca > 2:89401/1‑149 (MQ=255) gctgctGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGAGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGaccacc > 8:262706/1‑149 (MQ=255) ctgGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGCCCACCTGGc > 3:317339/1‑149 (MQ=255) ctgGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCCAGCTCGaccacggt < 5:83322/147‑4 (MQ=255) ggCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGcc < 6:71366/147‑1 (MQ=255) gCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCt > 5:259510/1‑149 (MQ=255) aCATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCTGCCATCAAg > 3:55530/1‑149 (MQ=255) aTCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCTGCCATCAAGGa > 5:355218/1‑149 (MQ=255) aTCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCTGCCATCAAGGa < 1:89401/149‑1 (MQ=255) gTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGGGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCTGCCATCAAGGACaa < 3:25125/149‑1 (MQ=255) tctcGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCACTGCCATCAAGGACAAg > 3:243638/1‑149 (MQ=255) cTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCTGCCATCAAGGACAAGCACCt > 1:90473/1‑149 (MQ=255) gTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCTGCCATCAAGGACAAGCAc < 6:234012/141‑1 (MQ=255) gTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCTGCCATCAAGGACAAGCAc > 5:234012/1‑141 (MQ=255) ccTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCACTGCCATCAAGGACAAGCACCTGATCGgcg < 4:243638/148‑1 (MQ=255) cTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCTGCCATCAAGGACAAGCACCTGATCGGcgcc < 2:90473/149‑1 (MQ=255) gAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCTGCCATCAAGGACAAGCACCTGATCGGcgccgc > 8:242328/1‑149 (MQ=255) gccgatcATCCACTGGGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCTGCCATCAAGGACAAGCACCTGATc < 4:292708/134‑1 (MQ=255) gccgatcATCCACTGGGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCTGCCATCAAGGACAAGCACCTGATc > 3:292708/7‑140 (MQ=255) aGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCTGCCATCAAGGACAAGCACCTGATCGGCgccgcc < 8:69037/149‑1 (MQ=255) tGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCTGCCATCAAGGACaa > 3:55114/1‑127 (MQ=255) tGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCTGCCATCAAGGACaa < 4:55114/127‑1 (MQ=255) ngCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCTGCCATCAAGGACAAGCACCTGATCGGCGCCGCCATc > 2:116840/2‑149 (MQ=255) ccATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCTGCCATCAAGGACAAGCACCTGATCGGCGCCGCCATc < 6:355218/147‑1 (MQ=255) aTCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCTGCCATCAAGGACAAGCACCTGATCGGCGCCGCCATCGACg > 3:92456/1‑149 (MQ=255) ccAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCt > 7:59292/1‑103 (MQ=255) ccAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCt < 8:59292/103‑1 (MQ=255) ccAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCTGCCATCAAGGACAAGCAc < 2:272522/121‑1 (MQ=255) ccAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCTGCCATCAAGGACAAGCAc > 1:272522/1‑121 (MQ=255) aGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCTGc > 4:203301/1‑103 (MQ=255) | TGGCTGAGAACATGGGCATGCAGGTGTACTTCTTCGACCCGCTGACCAAGCTGCCACTGGGCAACGCCGTGCAGGTCACCAGCCTGAACGAGCTGCTGGGCCTGGCTGACATCGTCTCGCTGCACGTGCCTGAGCTGCCATCCACCCAGTGGATGATCGGCGAGAAGGAAATCCGCTCGATGAAGAAGGGCGCGATCCTGATCAACGCCGCCCGTGGCACCGTGGTCGAGCTGGACCACCTGGCCGCTGCCATCAAGGACAAGCACCTGATCGGCGCCGCCATCGACG > NC_002947/5881945‑5882232 |
Alignment Legend |
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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: ‑ |