| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_002947 | 3,920,317 | C→T | 19.2% | R498Q (CGG→CAG) | acs ← | acyl‑CoA synthetase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_002947 | 3,920,317 | 0 | C | T | 19.2% | 46.0 / 7.6 | 26 | R498Q (CGG→CAG) | acs | acyl‑CoA synthetase |
| Reads supporting (aligned to +/- strand): ref base C (11/10); new base T (3/2); total (14/12) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 4.08e-01 | |||||||||||
GAATTTCTGCACCTTGCCCGTCACCGTCATCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGTTCTCGCCGCCGCGAATGATCATGTCCTTGC > NC_002947/3920178‑3920461 | gAATTTCTGCACCTTGCCCGTCACCGTCATCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGc < 1:284277/150‑1 (MQ=255) ttCTGCACCTTGCCCGTCACCGTCATCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCGGCTGCAcccgg > 1:204392/1‑142 (MQ=255) ttCTGCACCTTGCCCGTCACCGTCATCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCGGCTGCAcccgg < 2:204392/144‑3 (MQ=255) ccgtcaTCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTtgc < 2:392600/150‑1 (MQ=255) gggAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCGGCTGCAcccggggc > 2:468858/1‑115 (MQ=255) gggAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCGGCTGCAcccggggc < 1:468858/120‑6 (MQ=255) aCAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCAcc > 2:331276/1‑150 (MQ=255) aaaaCGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCGACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTg < 2:454755/150‑1 (MQ=255) aaaaCGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTg > 1:12651/1‑150 (MQ=255) cTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCgggtg > 2:269115/1‑150 (MQ=255) aGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAg > 2:68078/1‑77 (MQ=255) aGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAg < 1:68078/77‑1 (MQ=255) cgcAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCa < 2:101875/88‑1 (MQ=255) cgcAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCa > 1:101875/1‑88 (MQ=255) cgcAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTgaagaa > 1:6909/1‑150 (MQ=255) gcAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTgaagaag < 2:12651/150‑1 (MQ=255) catccccgCCCCCGCCCACTCCCGCAACCGTCCCTTACTGACAGCATGCCCCGGGTGCAGCCGCACCCTAGCCACGATCCCTGCACCGTACTTGCAGCAGGGCACGCCAATCACCTGCACATCGGCCACGGCCGGGTGGGTgaagaagaa < 2:74049/143‑1 (MQ=255) ttGCCCTCGCCCACTCACGCAACTCTACCTCAATGACAGCATGCCCCTGGTGCAGCCTCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAActcct > 2:260836/1‑150 (MQ=255) tGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAActcctc < 1:269115/150‑1 (MQ=255) tACCTCACTGGCAGCATGCCCCGGGTGCAGCCGCACCCAGGACACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGTtctc < 1:154349/150‑1 (MQ=255) cTCACTGACATCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGTTCTcgcc > 2:61261/1‑150 (MQ=255) tGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGTTCTcgccgccgc > 2:178163/1‑150 (MQ=255) cATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGTTCTCGCCGCCGCGAATGa < 1:196306/150‑1 (MQ=255) ggcctgggTGCGGCTGCACCCGGGGCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGTTCTCGCCGCCGCGAATGATCa > 1:185484/6‑150 (MQ=21) gCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGTTCTCGCCGCCGCGAATGATCa > 1:168638/1‑150 (MQ=255) gCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAAAGTTCTCGCCGCCGCGAATAAGCATGTCCTggc > 2:283947/1‑150 (MQ=255) | GAATTTCTGCACCTTGCCCGTCACCGTCATCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGTTCTCGCCGCCGCGAATGATCATGTCCTTGC > NC_002947/3920178‑3920461 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |