Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | KT2440 | 2,246,497 | G→A | 6.3% | S193N (AGC→AAC) | COQ5 → | 2‑methoxy‑6‑polyprenyl‑1,4‑benzoquinolmethylase, mitochondrial |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | KT2440 | 2,246,497 | 0 | G | A | 6.3% | 203.1 / 2.3 | 63 | S193N (AGC→AAC) | COQ5 | 2‑methoxy‑6‑polyprenyl‑1,4‑benzoquinolmethylase, mitochondrial |
Reads supporting (aligned to +/- strand): ref base G (27/32); new base A (2/2); total (29/34) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 |
GATGTCGCCGGGCAGCCCGCTGCTCGACACTTACCTGCAAACGGTCGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGAGCCGATGCGCGTGGCCATCCGCCAATTGCAGCAAGCCATGGGCGAAGAAGTACGG > KT2440/2246363‑2246615 | gATGTCGCCGGGCAGCCCGCTGCTCGACACTTACCTGCAAACGGTCGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAg > 4:177800/1‑135 (MQ=255) tGTCGCCGGGCAGCCCGCTGCTCGACACTTACCTGCAAACGGTCGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGcc > 2:77111/1‑135 (MQ=255) tCGCCGGGCAGCCCGCTGCTCGACAATTACCTCCAAACGGTCGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCca < 6:314324/134‑1 (MQ=255) cGGGCAGCCCGCTGCTCGACACTTACCTGCAAACGGTCGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACAccc < 4:275646/135‑1 (MQ=255) cGGGCAGCCCGCTGCTCGACACTTACCTGCAAACGGTCGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACAccc < 7:326136/135‑1 (MQ=255) gggCAGCCCGCTGCTCGACACGTACCTGCAAACGGTCGAAGTGCTGCGCGACACCAGCCACGTGAGCGACTACTCCGCCGCCGAGTGGCACCGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCCCACCCg > 7:28149/1‑135 (MQ=255) ggCAGCCCGCTGCTCGACACTTACCTGCAAACGGTCGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGc > 5:265164/1‑135 (MQ=255) aGCCCGCTGCTCGACACTTACCTGCAAACGGTCGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCaa > 1:230782/1‑135 (MQ=255) cccGCTGCTCGACACTTACCTGCAAACGGTCGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAAc < 8:249534/135‑1 (MQ=255) cGCTGCTCGACACTTACCTGCAAACGGTCGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGt > 5:107111/1‑135 (MQ=255) tgctCGACACTTACCTGCAAACGGTCGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTgc < 3:97930/135‑1 (MQ=255) acTTACCTGCAAACGGTCGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTCCTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAACCACACCCGCCAAACGTTGCGCCtggag > 3:59622/1‑135 (MQ=255) acTTACCTGCAAACGGTCGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCtggag < 3:29534/135‑1 (MQ=255) acTTACCTGCAAACGGTCGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAACCACACCCGCCAAACGTTGCGCCtggag > 1:308653/1‑135 (MQ=255) ttACCTGCAAACGGTCGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCtggagtg < 2:257178/135‑1 (MQ=255) cTGCAAACGGTCAAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGc < 3:309860/135‑1 (MQ=255) tccAAACGGGCGATGTGCGGCGCGACCCCTCCCACGGGCGCGACTACTCCGCCGCGGAGGGGAAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCa < 2:136619/133‑1 (MQ=255) tGCAAACGGTCGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCa > 6:318674/1‑135 (MQ=255) tGCAAACGGTCGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCa < 8:20238/135‑1 (MQ=255) tGCAAACGGTCGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCa > 5:200521/1‑135 (MQ=255) tGCAAACGGGCGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCa < 8:209869/135‑1 (MQ=255) aCGGTCGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTgg > 5:197812/1‑135 (MQ=255) aCGGTCGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTgg > 2:184005/1‑135 (MQ=255) aCGGTCGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTgg > 6:46197/1‑135 (MQ=255) cGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGa > 2:263413/1‑135 (MQ=255) gAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAg > 8:4806/1‑135 (MQ=255) gAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAg < 5:318674/135‑1 (MQ=255) gAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAg < 2:200673/135‑1 (MQ=255) aaGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAgc > 5:208257/1‑135 (MQ=255) gctgcGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCAt < 6:265164/135‑1 (MQ=255) cgcgACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATgcgc > 7:62348/1‑135 (MQ=255) cgcgACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATgcgc > 5:60186/1‑135 (MQ=255) gcgACACCCGCCACGGGCGCGACTACTCCGCCGCCGCGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCa < 3:15257/135‑1 (MQ=255) cgACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCtggag > 5:324337/1‑106 (MQ=255) cgACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCtggag < 6:324337/106‑1 (MQ=255) cgACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCtgga > 7:5988/1‑105 (MQ=255) cgACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCtgga < 8:5988/105‑1 (MQ=255) cgACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCAc > 7:247891/1‑135 (MQ=255) cgACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCAc > 2:264765/1‑135 (MQ=255) cAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGa > 7:237950/1‑135 (MQ=255) aGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGAg < 1:77111/135‑1 (MQ=255) ccccGTGCGGGCCTACTCCGCGGCCCAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCGGGGTTGAGCGCATGCGCACCCCCGAGcc < 3:182425/132‑1 (MQ=255) ggcgcGACTACTCCGCCGCCGAGTGGCAACGCCAGGGCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGAGCCGATgc < 1:206111/134‑1 (MQ=255) cgcgACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGAGCCGATgcgc > 8:73371/1‑135 (MQ=255) gcgACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGAGCCGATGcgcg > 1:299837/1‑135 (MQ=255) ctCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAACCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGAGCCGATGCGCGTGGCCAt < 2:308653/135‑1 (MQ=255) tCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAACCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGAGCCGATGCGCGTGGCCAt < 4:59622/134‑1 (MQ=255) ccgAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGAGCCGATGCGCGTGGCCATCCGCCAAt > 2:230291/1‑135 (MQ=255) ccgAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGAGCCGATGCGCGTGGCCATCCGCCAAt > 8:227504/1‑135 (MQ=255) aGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGAGCCGATGCGCGTGGCCATCCGCCAATTgc < 5:290565/135‑1 (MQ=255) cAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGAGCCGATGCGCGTGGCCATCCGCCAATTGCAGCaa < 2:230782/135‑1 (MQ=255) ggTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGAGCCGATGCGCGTGGCGATCCGCCAATTGCAGCAAGCCATggg < 5:37499/135‑1 (MQ=255) ggTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGAGCCGATGCGCGTGGCCATCCGCCAATTGCAGCAAGCCATggg < 6:197812/135‑1 (MQ=255) tCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGAGCCGATGCGCGTGGCCATCCGCCAATTGCAGCAAGCCATGGGCg < 6:208257/135‑1 (MQ=255) tCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGAGCCGATGCGCGTGGCCATCCGCCAATTGCAGCAAGCCATGGGCg < 3:192850/135‑1 (MQ=255) aGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCaaa > 5:225263/1‑40 (MQ=255) aGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCaaa < 6:225263/40‑1 (MQ=255) aGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGAGCCGATGCGCGTGGCCATCCGCCAATTGCAGCAAGCCATGGGCGAAGAAGt > 4:231561/1‑135 (MQ=255) aGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGAGCCGATGCGCGTGGCCATCCGCCAATTGCAGCAAGCCATGGGCGAAGAAGt > 7:270143/1‑135 (MQ=255) aGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGAGCCGATGCGCGTGGCCATCCGCCAATTGCAGCAAGCCATGGGCGAAGAAGt < 1:2449/135‑1 (MQ=255) gCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGAGCCGATGCGCGTGGCCATCCGCCAATTGCAGCAAGCCATGGGCGAAGAAGTa < 7:36838/135‑1 (MQ=255) gCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGAGCCGATGCGCGTGGCCATCCGCCAATTGCAGCAAGCCATGGGCGAAGAAGTa < 3:177800/135‑1 (MQ=255) ccGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGAGCCGATGCGCGTGGCCATCCGCCAATTGCAGCAAGCCATGGGCGAAGAAGTAc < 3:332952/135‑1 (MQ=255) ggCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGAGCCGATGCGCGTGGCCATCCGCCAATTGCAGCAAGCCATGGGCGAAGAAGTACgg < 1:46694/135‑1 (MQ=255) | GATGTCGCCGGGCAGCCCGCTGCTCGACACTTACCTGCAAACGGTCGAAGTGCTGCGCGACACCAGCCACGTGCGCGACTACTCCGCCGCCGAGTGGCAACGCCAGGTCAGCGAAGCCGGCCTGCACGTGCGCAGCCACACCCGCCAAACGTTGCGCCTGGAGTGGAGCACCTGGGTTGAGCGCATGCGCACCCCCGAGCCGATGCGCGTGGCCATCCGCCAATTGCAGCAAGCCATGGGCGAAGAAGTACGG > KT2440/2246363‑2246615 |
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: ‑ |