| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_002947 | 4,574,229 | G→C | 6.6% | G301R (GGC→CGC) | glgX → | glycogen debranching enzyme |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_002947 | 4,574,229 | 0 | G | C | 6.6% | 195.3 / 4.3 | 61 | G301R (GGC→CGC) | glgX | glycogen debranching enzyme |
| Reads supporting (aligned to +/- strand): ref base G (29/28); new base C (2/2); total (31/30) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 2.11e-01 | |||||||||||
CGCGCTACCTGGCCAGCGGCAAGATCGCCGAGTTCAAGGAGATGGTCGCGCACCTGCACGACGCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGACCTGAGCCACCCCTGCGTGCTGCAGTTGGTCACCGACTCGCTTCGCTACTGGGCCG > NC_002947/4574086‑4574370 | cgcgCTACCTGGCCAGCGGCAAGATCGCCGAGTTCAAGGAGATGGTCGCGCACCTGCACGACGCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATc < 1:152591/149‑1 (MQ=255) ccTGGCCAGCGGCAAGATCGCCGAGTTCAAGGAGATGGTCGCGCACCTGCACGACGCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCCGCGCATCGACag < 6:335479/147‑2 (MQ=255) cTGGCCAGCGGCAAGATCGCCGAGTTCAAGGAGATGGTCGCGCACCTGCACGACGCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGAc > 4:88959/1‑144 (MQ=255) cTGGCCAGCGGCAAGATCGCCGAGTTCAAGGAGATGGTCGCGCACCTGCACGACGCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGAc < 3:88959/144‑1 (MQ=255) cAGCGGCAAGATCGCCGAGTTCAAGGAGATGGTCGCGCACCTGCACGACGCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCg > 5:30410/1‑148 (MQ=255) ggCAAGATCGCCGAGTTCAAGGATATGGTCGCGCACCTGCACGACGCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGtacta < 6:276534/149‑1 (MQ=255) gATCGCCGAGTTCAAGGAGATGGTCGCGCACCTGCACGACGCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGcc > 1:196096/1‑149 (MQ=255) gAGTTCAAGGAGATGGTCGCGCACCTGCACGACGCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGcc < 8:62217/149‑1 (MQ=255) ggAGATGGTCGCGCACCTGCACGACGCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCCGCGCATCGACagg > 4:285018/1‑116 (MQ=255) ggAGATGGTCGCGCACCTGCACGACGCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCCGCGCATCGACagg < 3:285018/118‑3 (MQ=255) aTGGTCGCGCACCTGCACGACGCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTTTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAgc < 6:30410/148‑1 (MQ=255) gcgTCGTGCAGGTGCGCGACGCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAgcgc > 7:83837/3‑149 (MQ=255) gcgTCGTGCAGGTGCGCGACGCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAgcgc > 1:194377/3‑149 (MQ=255) ggTCGCGCACCTGCACGACGCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGa < 5:243183/108‑1 (MQ=255) ggTCGCGCACCTGCACGACGCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGa > 6:243183/1‑108 (MQ=255) aCCTGCACGACGCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATc < 3:228922/149‑1 (MQ=255) aCCTGCACGACGCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATc < 5:298437/149‑1 (MQ=255) cTGCACGACGCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGga < 6:270395/128‑1 (MQ=255) cTGCACGACGCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGga > 5:270395/1‑128 (MQ=255) gCACGACGCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAAc > 7:30894/1‑148 (MQ=255) cgacgCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGcc > 3:58758/1‑120 (MQ=255) cgacgCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGcc < 4:58758/120‑1 (MQ=255) gacgCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTc < 2:194377/149‑1 (MQ=255) gacgCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTc > 3:214240/1‑149 (MQ=255) gacgCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTc > 5:144247/1‑149 (MQ=255) gcgGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTccgg > 3:310386/1‑149 (MQ=255) ggggCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTAACGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTccggca > 1:173346/1‑149 (MQ=255) gCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGAGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTAATACATCAACGACTccgccaccg > 7:164489/1‑149 (MQ=255) gAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGCCCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCaa > 6:379208/1‑149 (MQ=255) tCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGcc > 1:18675/1‑100 (MQ=255) tCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGcc < 2:18675/100‑1 (MQ=255) tCCGGGACGTGGGCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTg < 4:55320/149‑1 (MQ=255) cTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTgg < 8:83837/148‑1 (MQ=255) tGGACGTGGTCTACAACCACACCGCCGAAGGCATCGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGAc > 2:100105/1‑149 (MQ=255) tGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGAc > 8:63913/1‑149 (MQ=255) gACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGAc < 7:63913/147‑1 (MQ=255) cGTGGTCTACAACCACACCGCCGAAGGCATCGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGACCTGa < 1:100105/149‑1 (MQ=255) tCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGACCTGAGCCAc < 8:30894/149‑1 (MQ=255) cttcAACCACAACGCAGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGGGCTACTACATCAACGAGTCCGGCACCGGCAACACGCTGGACCTGAGCCAc < 8:164489/145‑1 (MQ=255) cTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGACCTGAGCCAcc > 5:31243/1‑149 (MQ=255) cAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGACCTGAGCCAccc < 7:153561/147‑1 (MQ=255) cAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGACCTGAGCCAccc > 8:153561/1‑147 (MQ=255) aaCCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGACCTGAGCCACCCCTg > 8:343975/1‑149 (MQ=255) ccACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGctac < 5:163388/97‑1 (MQ=255) ccACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGctac > 6:163388/1‑97 (MQ=255) aaGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGACCTGAGCCACCCCTGCGTGCTGCAGTTg < 4:310386/149‑1 (MQ=255) gAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGAc < 1:289395/114‑1 (MQ=255) gAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGAc > 2:289395/1‑114 (MQ=255) gcgcGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTccggcaccg > 3:291583/1‑98 (MQ=255) gcgcGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTccggcaccg < 4:291583/98‑1 (MQ=255) ggCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGACCTGAGCCACCCCTGCGTGCTGCAGTTGGTCACCGACtcg < 7:16562/147‑1 (MQ=255) ggCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGACCTGAGCCACCCCTGCGTGCTGCAGTTGGTCACCGACtcg > 8:16562/1‑147 (MQ=255) ggACCCTGTCGATGCGCGGCATCGAAAACGCCTCGTACTACCGCCTGATGCCGTACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGACCTGAGCCACCCCTGCGTGCTGCAGTTGGTCACCGACtcgcttcgc < 2:173346/148‑1 (MQ=255) aCCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACACTGGACCTGAGCCACCCCTGCCTGCTGCATGTCGTCACCGCCtcgcttcgct > 8:250894/1‑148 (MQ=255) cccTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGACCTGAGCCACCCCTGCGTGCTGCAGTTGGTCACCGACTCGCTTCGCTAc < 4:214240/149‑1 (MQ=255) gttGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGACCTGAGCCACCCCTGCGTGCTGCAGTTGGTCACCGACtcgcttc > 8:18546/3‑143 (MQ=255) ttGTCGATGCCGCGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGACCTGAGCCACCCCTGCGTGCTGCAGTTGGTCACCGACTCGCTTCGCTACTg > 4:255940/2‑149 (MQ=255) cTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGACCTGAGCCACCCCTGCGTGCTGCAGTTGGTCACCGACTCGCTTCGCTACTg < 7:343975/149‑1 (MQ=255) gTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGACCTGAGCCACCCCTGCGTGCTGCAGTTGGTCACCGACTCGCTTCGCTACt < 5:109765/146‑1 (MQ=255) gTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGACCTGAGCCACCCCTGCGTGCTGCAGTTGGTCACCGACTCGCTTCGCTACt > 6:109765/1‑146 (MQ=255) gATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGACCTGAGCCACCCCTGCCTGCTCCAGTTGGTCACCGACTCGCTTCGCTACTGGGccc > 7:180513/1‑148 (MQ=255) | CGCGCTACCTGGCCAGCGGCAAGATCGCCGAGTTCAAGGAGATGGTCGCGCACCTGCACGACGCGGGGCTTGAGGTGATCCTGGACGTGGTCTACAACCACACCGCCGAAGGCAACGAGCGCGGCCCGACCCTGTCGATGCGCGGCATCGACAACGCCTCGTACTACCGCCTGATGCCGGACGACAAGCGCTACTACATCAACGACTCCGGCACCGGCAACACCCTGGACCTGAGCCACCCCTGCGTGCTGCAGTTGGTCACCGACTCGCTTCGCTACTGGGCCG > NC_002947/4574086‑4574370 |
| 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: ‑ |