Predicted mutation | |||||||
---|---|---|---|---|---|---|---|
evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 1,685,862 | C→T | 7.8% | S306N (AGC→AAC) | patD ← | medium chain aldehyde dehydrogenase |
Read alignment evidence... | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 1,685,862 | 0 | C | T | 7.8% | 148.0 / 2.1 | 51 | S306N (AGC→AAC) | patD | medium chain aldehyde dehydrogenase |
Reads supporting (aligned to +/- strand): ref base C (26/21); new base T (2/2); total (28/23) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 5.69e-01 |
CCGCTATTGGCTTGCCACCGGTTACCAGACGAATGTGCGGCTGGGCGATGGCCCGCTGCACCAGCCCGGCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCAGTCCTGGCCGGCGTTGTAGAAGCCGAAGGTGCGGATGCCGTCGATGGCGGCATCGATGTCAGCGTCATC > NC_002947/1685716‑1686010 | ccGCTATTGGCTTGCCACCGGTTACCAGACGAATGTGCGGCTGGGCGATGGCCCGCTGCACCAGCCCGGCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAggctg < 7:225559/149‑1 (MQ=255) tATTGGCTTGCCACCGGTTACCAGACGAATGTGCGGCTGGGCGATGGCCCGCTGCACCAGCCCGGCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTa > 4:194783/1‑149 (MQ=255) ttGGCTTGCCACCGGTTACCAGACGAATGTGCGGCTGGGCGATGGCCCGCTGCACCAGCCCGGCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTAc < 8:81743/148‑1 (MQ=255) ttGGCTTGCCACCGGTTACCAGACGAATGTGCGGCTGGGCGATGGCCCGCTGCACCAGCCCGGCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACg > 4:327282/1‑149 (MQ=255) gCTTGCCACCGGTTACCAGACGAATGTGCGGCTGGGCGATGGCCCGCTGCACCAGCCCGGCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCt < 3:249411/149‑1 (MQ=255) ttGCCACCGGTTACCAGACGAATGTGCGGCTGGGCGATGGCCCGCTGCACCAGCCCGGCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCtt > 3:278480/1‑148 (MQ=255) aCCGGTTACCAGACGAATGTGCGGCTGGGCGATGGCCCGCTGCACCAGCCCGGCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCa < 3:327282/149‑1 (MQ=255) aCCGGTTACCAGACGAATGTGCGGCTGGGCGATGGCCCGCTGCACCAGCCCGGCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCa < 6:68463/149‑1 (MQ=255) ggTTACCAGACGAATGTGCGGCTGGGCGATGGCCCGCTGCACCAGCCCGGCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGc > 4:7180/1‑149 (MQ=255) ccAGACGAATGTGCGGCTGGGCGATGGCCCGCTGCACCAGCCCGGCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTc < 2:343942/148‑1 (MQ=255) cAGACGAATGTGCGGCTGGGCGATGGCCCGCTGCACCAGCCCGGCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGa < 3:194783/149‑1 (MQ=255) gATGGCCCGCTGCACCAGCCCGGCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGt > 1:114340/1‑149 (MQ=255) gCCCGCTGCACCAGCCCGGCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCt < 2:300699/148‑1 (MQ=255) cccGCTGCACCAGCCCGGCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGGTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTg > 7:88186/1‑148 (MQ=255) ccGCTGCACCAGCCCGGCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGca > 5:138323/1‑149 (MQ=255) gcgcccAGCACCGCGACAAGGTCGCCGGGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGTTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTa > 4:339426/5‑131 (MQ=38) gcgcccAGCACCGCGACAAGGTCGCCGGGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGTTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTa > 4:344881/5‑131 (MQ=38) gcgcccAGCACCGCGACAAGGTCGCCGGGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGTTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTa < 3:344881/127‑1 (MQ=38) gcgcccAGCACCGCGACAAGGTCGCCGGGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGTTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTa < 3:339426/127‑1 (MQ=38) cACCAGCCCGGCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACa < 4:206786/149‑1 (MQ=255) aCCAGCCCGGCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAg < 6:138323/149‑1 (MQ=255) aCCAGCCCGGCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAg < 4:278480/149‑1 (MQ=255) cgaGCCCGGCGACCTTGTGGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGAc < 1:102354/113‑1 (MQ=255) cGGCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACACAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAg > 6:118518/1‑149 (MQ=255) ggCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAg > 4:243037/1‑112 (MQ=255) ggCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAg < 3:243037/112‑1 (MQ=255) gCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGc > 6:258764/1‑149 (MQ=255) gACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGCCTg > 5:109214/1‑149 (MQ=255) gTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTg > 5:48842/1‑148 (MQ=255) tCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCa < 3:7180/149‑1 (MQ=255) gcgGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCAGt > 3:19207/1‑149 (MQ=255) gcTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCACGCGTTCTACAAAGCGCTCGTAGATCCCGTCCTGAACATACATGCGGAAGGCTGCGCTg > 6:312591/1‑133 (MQ=255) aTCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCAGTCCTGGCCGGCGTTg > 6:289726/1‑147 (MQ=255) aGTGGCCCCAGTTCGGGTTCTTCAGACTCCTGCAGGCCCGGCGTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCAGTCCTGGCCGGCGTTGTAGaa < 8:88186/149‑1 (MQ=255) cccAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGTAGTCCTGGCCGGCGTTGTAGAAGc > 3:206637/1‑145 (MQ=255) cccAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGTAGTCCTGGCCGGCGTTGTAGAAGc < 4:206637/145‑1 (MQ=255) ccAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTc < 5:85837/91‑1 (MQ=255) ccAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTc > 6:85837/1‑91 (MQ=255) cGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCAGTCCTGGCCGGCGTTGTAGAAGCCGAAGGTGCg > 7:284492/1‑148 (MQ=255) ttcAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCAGTCCTGGCCGGCGTTGTAGAAGCCGAAGGTGc > 5:282893/1‑140 (MQ=255) ttcAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCAGTCCTGGCCGGCGTTGTAGAAGCCGAAGGTGc < 6:282893/140‑1 (MQ=255) ttcAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCAGTCCTGGCCGGCGTTGTAGAAGCCGAAGGTGCGGATGCCGt > 5:592/1‑149 (MQ=255) aCTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCAGTCCTGGCCGGCGTTGTAGAAGCCGAAGGTGCGGATGCCGTCg > 1:5425/1‑146 (MQ=255) aCTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCAGTCCTGGCCGGCGTTGTAGAAGCCGAAGGTGCGGATGCCGTCg < 2:5425/146‑1 (MQ=255) aCTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCAGTCCTGGCCGGCGTTGTAGAAGCCGAAGGTGCGGATGCCGTCGATg > 4:199714/1‑149 (MQ=255) cccGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCAGTCCTGGCCGGCGTTGTAGAAGCCGAAGGTGCGGATGCCGTCGATGGCGGCATCGAt < 5:289726/149‑1 (MQ=255) ccGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCAGTCCTGGCCTGCGTTGTAGAAGCCGAAGGTGCGGATGCCGTCGATGGCGGCATCGATg > 8:168647/1‑149 (MQ=255) ccGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCAGTCCTGGCCGGCGTTGTAGAAGc < 6:166771/114‑1 (MQ=255) ccGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCAGTCCTGGCCGGCGTTGTAGAAGc > 5:166771/1‑114 (MQ=255) ttGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCAGTCCTGGCCGGCGTTGTAGAAGCCGAAGGTGCGGATGCCGTCGATGGCGGCATCGATGTCGGc > 4:268688/1‑149 (MQ=255) tGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCAGTCCTGGCCGGCGTTGTAGAAGCCGAAGGTGCGGATGCCGTCGATGGCGGCATCGATGTCAGc > 7:113925/1‑148 (MQ=255) tGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCAGTCCTGGCCGGCGTTGTAGAAGCCGAAGGTGCGGATGCCGTCGATGGCGGCATCGATGTCAGc < 8:113925/148‑1 (MQ=255) ggctggctACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCAGTCCTGGCCGGCGTTGTAGAAGCCGAAGGTGCGGATGCCGTCGATGGCGGCATCGATGTCAGCGTCa > 1:72802/1‑149 (MQ=255) gctggctACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCAGTCCTGGCCGGCGTTGTAGAAGCCGAAGGTGCGGATGCCGTCGATGGCGGCATCGATGTCAGCGTCAt > 1:254277/1‑149 (MQ=255) gctggctACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCAGTCCTGGCCGGCGTTGTAGAAGCCGAAGGTGCGGATGCCGTCGATGGCGGCATCGATGTCAGCGTCAt > 3:65806/1‑149 (MQ=255) ctggctACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCAGTCCTGGCCGGCGTTGTAGAAGCCGAAGGTGCGGATGCCGTCGATGGCGGCATCGATGTCAGCGTCATc < 6:109214/149‑1 (MQ=255) | CCGCTATTGGCTTGCCACCGGTTACCAGACGAATGTGCGGCTGGGCGATGGCCCGCTGCACCAGCCCGGCGACCTTGTCGCGGTGCTGGGCGCTGATCAGTGGCCCCAGTTCGGTTTCTTCAGACTCCTGCAGGCCCGGCTTGAGGCTGGCTACGGCTTTACCCAGGCGTTCGACAAAGCGCTCGTAGATCCCGTCCTGCACATACAGGCGGCAGGCTGCGGTGCAGTCCTGGCCGGCGTTGTAGAAGCCGAAGGTGCGGATGCCGTCGATGGCGGCATCGATGTCAGCGTCATC > NC_002947/1685716‑1686010 |
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: ‑ |