Predicted mutation | |||||||
---|---|---|---|---|---|---|---|
evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 4,728,876 | G→A | 6.6% | G320G (GGC→GGT) | sucC ← | bifunctional succinyl‑CoA synthetase subunit beta/glutaryl‑CoA synthetase subunit beta |
Read alignment evidence... | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 4,728,876 | 0 | G | A | 6.6% | 174.9 / 2.2 | 60 | G320G (GGC→GGT) | sucC | bifunctional succinyl‑CoA synthetase subunit beta/glutaryl‑CoA synthetase subunit beta |
Reads supporting (aligned to +/- strand): ref base G (24/32); new base A (2/2); total (26/34) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.18e-01 |
TTCAAACCGCTTTCTGCCAGTACTTTAGCGCCCAGTTCGGCGTTGTTGCCTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAACGCGCTCTTTGGTAGCACCACCGCCAACGTCGAGGAAGTTGGCCGGCTTGCCGCCGTGCAGGTTGACGATGTCCATGGTAC > NC_002947/4728736‑4729024 | ttCAAACCGCTTTCTGCCAGTACTTTAGCGCCCAGTTCGGCGTTGTTGCCTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGAt > 4:34884/1‑149 (MQ=255) aaaCCGCTTTCTGCCAGTACTTTAGCGCCCAGTTCGGCGTTGTTGCCTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGaa < 2:59843/143‑1 (MQ=255) aaaCCGCTTTCTGCCAGTACTTTAGCGCCCAGTTCGGCGTTGTTGCCTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGaa > 1:59843/1‑143 (MQ=255) aaaCCGCTTTCTGCCAGTACTTTAGCGCCCAGTTCGGCGTTGTTGCCTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGtt < 7:170608/149‑1 (MQ=255) aaCCGCTTTCTGCCAGTACTTTAGCGCCCAGTTCGGCGTTGTTGCCTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGtt > 8:90949/1‑148 (MQ=255) ccGCTTTCTGCCAGTACTTTAGCGCCCAGTTCGGCGTTGTTGCCTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGAc < 1:222859/149‑1 (MQ=255) cGCTTTCTGCCAGTACTTTAGCGCCCAGTTCGGCGTTGTTGCCTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGAcc < 3:165081/149‑1 (MQ=255) cAGTACTTTAGCGCCCAGTTCGGCGTTGTTGCCTTCGAGGCGAACGACGCCCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCACCGAAGATGTTGACCAGAACGGCcg > 7:255973/1‑149 (MQ=255) cAGTACTTTAGCGCCCAGTTCGGCGTTGTTGCCTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCACCGAAGATGTTGACCAGAACGGCcg > 5:203455/1‑149 (MQ=255) aGTACTTTAGCGCCCAGTTCGGCGTTGTTGCCTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACTGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCcgc < 1:194886/149‑1 (MQ=255) aGTACTTTAGCGCCCAGTTCGGCGTTGTTGCCTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCcgc > 8:23628/1‑149 (MQ=255) aGTACTTTAGCGCCCAGTTCGGCGTTGTTGCCTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCcgc > 1:235273/1‑149 (MQ=255) aGTACTTTAGCGCCCAGTTCGGCGTTGTTGCCTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCcgc > 3:307887/1‑149 (MQ=255) aCTTTAGCGCCCAGTTCGGCGTTGTTGCCTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGa < 3:34884/148‑1 (MQ=255) tttAGCGCCCAGTTCGGCGTTGTTGCCTTCGAGGCGAACGACGACCGGAACTTTAACGGCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCTGCGAACGATGCCGCCGAAGATGTTg < 7:114261/130‑1 (MQ=255) tttAGCGCCCAGTTCGGCGTTGTTGCCTTCGAGACGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACAt > 7:83573/1‑149 (MQ=255) tttAGCCCCCAGTTCGGCGTTGTTGCCTTCGAGGCGAACGACGACCCGAACATTAACGCCAACTTCTTTCACTCCACCGATGATGCCTTCCGCAATCATCTCGCAGCGAACGATGCCGCCGAAGatgatg > 8:114261/1‑130 (MQ=255) tAGCGCCCAGTTCGGCGTTGTTGCCTTCGAGACGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACAt < 8:83573/147‑1 (MQ=255) cgcCCAGTTCGGCGTTGTTGCCTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTg < 4:307887/149‑1 (MQ=255) cgcCCAGTTCGGCGTTGTTGCCTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTCACAAGAACGGCCGCGACATTGCTg > 4:13966/1‑149 (MQ=255) aGTTCGGCGTTGTTGCCTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGa < 8:116409/149‑1 (MQ=255) ggCGTTGTTGCCTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGtt > 6:20013/1‑114 (MQ=255) ggCGTTGTTGCCTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGtt < 5:20013/114‑1 (MQ=255) gCGTTGTTGCCTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAAt < 7:314497/149‑1 (MQ=255) ttgCCTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCtt < 3:213134/149‑1 (MQ=255) ctccTTCGAGGCGAACGACGACCTGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCtt < 3:340098/146‑1 (MQ=255) cTTCGAGGCGAACGCCGACCGGAACTTTAAAGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGACCGAAGCCGCCGAAGATTTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAAc > 2:315554/1‑149 (MQ=255) cTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATcat > 4:340098/1‑143 (MQ=255) cTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATc > 4:215454/1‑143 (MQ=255) cTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATc < 3:215454/143‑1 (MQ=255) cTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAAc > 1:207766/1‑149 (MQ=255) aGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTc > 1:58467/1‑149 (MQ=255) ggCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCg < 2:58467/149‑1 (MQ=255) acgacgACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAAc < 7:90949/149‑1 (MQ=255) aaCTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAACGCGCTCTTTgg < 4:271985/149‑1 (MQ=255) cTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCGGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAACGCGCTCTTTGGtt < 3:13966/149‑2 (MQ=255) tttAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAACGCGCTCTTTGGTAg > 5:64489/1‑149 (MQ=255) aCGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAAc > 1:316729/1‑131 (MQ=255) aCGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAAc < 2:316729/131‑1 (MQ=255) gCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACa < 7:100671/104‑1 (MQ=255) gCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACa > 8:100671/1‑104 (MQ=255) gCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATc < 7:198784/112‑1 (MQ=255) gCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATc > 8:198784/1‑112 (MQ=255) gCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAAcg < 4:96803/130‑1 (MQ=255) gCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAAcg > 3:96803/1‑130 (MQ=255) aatGCACCTATGATGCCTTCGGCAATCATGTCGCAGCGTACGATGCCGCCGAAGTTGTTGACCAGATCGGCCGCGACATTGCTGTCGGACAGAATGATCTTGACCGCTTCGGTAACGCGCTCTTTGGTAGCACCACCGCCAACGTCGAg < 1:315554/147‑1 (MQ=255) aCTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCTGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAACGCGCTCTTTGGTAGCACCACCGCCAACGTCGa < 2:207766/148‑1 (MQ=255) cGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAACGCGCTCTTTGGTAGCACCACCGCCAACGTCGAGGAAGTTg < 2:210318/149‑1 (MQ=255) atgCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAACGCGCTCTTTGGTAGCACCACCGCCAACGTCGAGGAAGTTGGCCg < 6:64489/148‑1 (MQ=255) atgCCTTCGGCAATCATGTCGCAGCGAACGATGCCACCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAACGCGCTCTTTGGTAGCACCACCGCCAACTTCCTCGACGTTGGcggt < 6:203455/149‑4 (MQ=255) atgCCTTCGGCAATCATGTCGCAGCGAACGATGCCACCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAACGCGCTCTTTGGTAGCACCACCGCCAACTTCCTCGACGTTGGcggt < 8:255973/149‑4 (MQ=255) gCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAACGCGCTCTTTGGTAGCACCACCGCCAACGTCGAGGAAGTTGGCTGGCTTgccgcc > 2:306996/1‑149 (MQ=255) aTCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAACGCGCTCTTTGGTAGCACCACCGCCAACGTCGAGGAAGTTGGCCGGCTTGCCGCCGTg > 5:15201/1‑149 (MQ=255) gCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAACGCGCTCTTTGGTAGCACCACCGCCAACGTCGAGGAAGTTGGCCg > 4:4451/1‑128 (MQ=255) gCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAACGCGCTCTTTGGTAGCACCACCGCCAACGTCGAGGAAGTTGGCCg < 3:4451/128‑1 (MQ=255) cAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAACGCGCTCTTTGGTAGCACCACCGCCAACGTCGAGGAAGTTGGCTGGCTTGCCGCCGTGCAGGTTGAc < 1:306996/149‑1 (MQ=255) cGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAACGCGCTCTTTGGTAGCACCACCGCCAACGTCGAGGAAGTTGGCCGGCTTGCCGCCGTGCAGGTTGACGAt < 1:140414/149‑1 (MQ=255) aCGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAACGCGCTCTTTGGTAGCACCACCGCCAACGTCGAGGAAGTTGGCCGGCTTGCCGCCGTGCAGGTTGACGATGTc > 2:212410/1‑149 (MQ=255) aTGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAACGCGCTCTTTGGTAGCACCACCGCCAACGTCGAGGAAGTTGGCCGGCTTGCCGCCGTGCAGGTTGACGATGTCCAt < 5:150427/149‑1 (MQ=255) aTGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAACGCGCTCTTTGGTAGCACCACCGCCAACGTCGAGGAAGTTGGCCGGCTTGCCGCCGTGCAGGTTGACGATGTCCAt < 2:235273/149‑1 (MQ=255) gccgAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAACGCGCTCTTTCGTAGCACCACCCCCAACGTCGAGGAAGTTGGCCGGCTTGCCGCCGAGCAGGTTGACGATGTCCATCGTAc > 4:48041/1‑149 (MQ=255) | TTCAAACCGCTTTCTGCCAGTACTTTAGCGCCCAGTTCGGCGTTGTTGCCTTCGAGGCGAACGACGACCGGAACTTTAACGCCAACTTCTTTCACTGCACCGATGATGCCTTCGGCAATCATGTCGCAGCGAACGATGCCGCCGAAGATGTTGACCAGAACGGCCGCGACATTGCTGTCGGACAGAATGATCTTGAACGCTTCGGTAACGCGCTCTTTGGTAGCACCACCGCCAACGTCGAGGAAGTTGGCCGGCTTGCCGCCGTGCAGGTTGACGATGTCCATGGTAC > NC_002947/4728736‑4729024 |
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: ‑ |