Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | ACB143 | 4,277,029 | 0 | C | G | 32.7% | 91.6 / 15.3 | 56 | F279L (TTC→TTG) | hbd | 3‑hydroxybutyryl‑CoA dehydrogenase |
Reads supporting (aligned to +/- strand): ref base C (10/25); new base G (17/0); total (31/25) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 4.34e-07 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
Rejected as consensus: Frequency below/above cutoff threshold. |
GATCGGCCTGGACACCCTGCTGGCAATCATGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCGGGCCATGGCATTGTTTGCCGAAAAGGGCTTTGGCCAGGTCAGCATGCGCGAGCT > ACB143/4276894‑4277163 | gctCGGCCTGCACACCCGGCTGGAAATCATGGCGGCCTCCCACGAAGGCTTCAACGACAGAAAATACCGCCCTGCTCCACTGCTCACGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTttc < 8:22840/134‑1 (MQ=255) aTCGGCCTGGACCCCCTGCTGCAAATCATGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGTTttc < 7:127569/135‑1 (MQ=255) aTCGGCCTGGACACCCTGCTGGCAATCATGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTttc < 8:212462/135‑1 (MQ=255) ggCCTGGACACCCTGCTGGCAATCATGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCa > 2:260512/1‑136 (MQ=255) ggACACCCTGCTGGCAATCATGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTGTTGACCGAc > 5:50784/1‑136 (MQ=255) ggACACCCTGCTGGCAATCATGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGGTCAccaa > 1:272490/1‑133 (MQ=255) ggACACCCTGCTGGCAATCATGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTATTCAccaaa > 6:345878/1‑133 (MQ=255) gctgGCAATCATGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCAACAAATGAGGAGc > 2:188834/1‑135 (MQ=255) gctgGCAATCATGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGTTGACCTACTGAGgcgc > 3:161151/1‑135 (MQ=255) gctgGCAATCATGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTCTTCCCCTAATGGGGTGc > 7:45071/1‑135 (MQ=255) gCAATCTGGGAGCCCTTCACCGATGGCTTCAACCACAGCAAAACCCGCCCTCCTCCCCTGCTCAAGTAAATGGCCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAgcg < 5:6403/136‑1 (MQ=255) gCAATCATGGAGGCCTTCCACGAAGGCTTCAACGACAGAAAATACCGCCCTGCTCCACGGCTCACGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAgcg < 6:292278/136‑1 (MQ=255) cATGGCGGCCTCCCCCGACGGCTTCAACGACACCAAAACCCCCCCTGCCCCACTGCTCCAGGAAATGGGCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTCCTGAGGAGC‑AAGCGCCATg < 3:327783/136‑1 (MQ=255) aGGCCTTCCACGACGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGccccc < 2:251181/136‑1 (MQ=255) ttCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTttctt > 6:53483/1‑101 (MQ=255) ttCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTttctt < 5:53483/101‑1 (MQ=255) ttCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGTTGACCGAATGAGGAGCAAACCCCCATCCCCCCggc > 1:320946/1‑134 (MQ=255) ccACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCa < 7:178975/134‑1 (MQ=255) ccACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCa < 7:185225/134‑1 (MQ=255) ccACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGTTACCCGACTGAGGAGC‑CAGCCCCAAGCCCCCGGGCaaa > 8:127558/1‑135 (MQ=255) aCGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTGTTCACCTACTGATGAGC‑AAGCGCCAAGCCCCCCGTCAATGc > 8:64047/1‑136 (MQ=255) cGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCAAGCCCCCCGTCAATTcc > 7:224943/1‑136 (MQ=255) aaGGCTTCAACGCCAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGACTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGc < 1:161495/136‑1 (MQ=255) cTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCAGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATg < 8:245523/136‑1 (MQ=255) accaCAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAAGGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCtg < 4:315263/133‑1 (MQ=255) aCGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCtg < 1:260512/136‑1 (MQ=255) aCGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGGCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCtg < 1:114358/136‑1 (MQ=255) aCGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAAGGGGCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCtg < 2:356568/136‑1 (MQ=255) aCGACAGAAAAAACCGCCCTGCTCCACTGCTCAAGCAAAGGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCtg < 1:42685/136‑1 (MQ=255) cAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGTTGACCAACTGAGGAGC‑AAGCGCCAAGCCCCCGGGCAAAGCCCCCAAGCGCGGTGccca > 4:263329/1‑133 (MQ=255) aaaTACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGTTGACCTAATGAGGGGC‑AAGCGCCCTGCCCCCGGGCAATTCCGCCATGCGCAGTGCCAAcg > 7:139681/1‑135 (MQ=255) ccggCTCCACTGCTCCAGGACATGGGCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGc < 6:124455/133‑1 (MQ=255) ccTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGc < 4:342810/136‑1 (MQ=255) cTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGTTGACCTACTGAGGAGC‑AAGCGCCATGCCCCCCGTCAATGCCGCAATGCGCGGGGCCAACATTGAGGcgcg > 8:98292/1‑136 (MQ=255) tGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTATTCACCTAATGAGGAGC‑CAGCGCCATGCCCCCGGTCAATGCCGCAATTCGCGGTGCCAACTTTGAGGAGCgc > 1:17567/1‑135 (MQ=255) cagtggtCATGGATATGGTCTCGGCCGTCTGGCTGGGGCGCAAGTGCGGGCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTGTGTCAACTTTGAGGAGCGACGt < 6:84762/128‑1 (MQ=255) cACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTGTTCACCTTCTGAGGAGC‑CAGCCCCATTCCCCCCGTCAAAGCCGCGCTGCGCGGTGGCAACTTTTAGGAGGGACGTGa > 6:137626/1‑136 (MQ=255) cACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTGACCTACTGAGGAGC‑AAGCGCCCTGCCCCCCGTCAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGa > 2:269370/1‑136 (MQ=255) cACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGt < 7:274242/134‑1 (MQ=255) cACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTAACCTACAGGGGAGC‑AAACCCCATTCCCCCGGTCAATGCCCCAATTCGCTATTGCAACATTGAGGCGCGACCTGa > 1:269134/1‑136 (MQ=255) cTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGTTCCCCGACTGAGGAGC‑AAGCGCCAATCCCCCCGTCAATGCCCCAAAGCGCGGTGCCAACATTTAGGAGCGACCTGACCcgg > 5:274458/1‑136 (MQ=255) tCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTGTTCACCTACTTAGGCGC‑AACCGCCATGCCCCCGCTCAATGCCGCAATGCGCGGGGCCCACATTGAGGAGCGCCGGGACCGGGc > 1:266625/1‑136 (MQ=255) aaGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTTTTGACCAAATTAGGAGC‑AAACGCCATTCCCCCGGGTAATTCCGCAATTCGCTGTGGCAACTTTGTGGAGCGACGTGACCGGGCCa > 7:184267/1‑136 (MQ=255) aaGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCGGGcc > 7:262233/1‑135 (MQ=255) aaGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCGTAACCGACTGAGGAGC‑AAACGCCATGCCCCCCGGCAATGCCCCCAAGCGCTGTGCCCACTTTGATGGGCGACGTGACCGGGcc > 8:192599/1‑135 (MQ=255) gAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTTGTGACCGAATGAGGGGC‑AATCGCCAATCCCCCCGGCAAAGCCCCCAATCGCAGTGGCACATTTGAGGAGCGCCCTGACCGGGCCCTgg > 4:27136/1‑136 (MQ=255) tCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGTTGACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCGGTGCCAACTTTGAGGAGCGACGTGACCGGGCCATGGCATTGtt > 1:305769/1‑136 (MQ=255) tCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGTTCACCGACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGGCCGGGCCATGGCATTGtt > 8:17921/1‑136 (MQ=255) ccggcTGGCTGGGGCGCAAGAGCGGTCGCGGTTTGTTGACCGTCTGAGGGGC‑CAGCGCCCAGCCCCCGGGGAATGGCGCAATGGGCGGTGGCAACTTTGTGGAGCGCCGTGGCCGGGGCATGGGGTTGTTTGGCg > 7:64500/1‑135 (MQ=255) ccggcTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCGGGCCATGGCATTGTTTGCCGa < 7:64047/136‑1 (MQ=255) ccggcTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCGGGCCATGGCATTGTTTGCCGa < 1:188834/136‑1 (MQ=255) ccggcTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCGGGCCATGGCATTGTTTGCCGa < 4:310040/136‑1 (MQ=255) ccggcTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCGGGCCATGGCATTGTTTGCCGa < 4:211675/136‑1 (MQ=255) ccggcTGGCTGGGGCGCAAGAGCGGTCGCGGGTTGTTGACCTACTGAGGAGC‑AAGCGCCATGCCCCCCGGCAATGCCGCAATGCGCTGTGGCAACTTTGAGGAGCGACGTGACCGGGCCATGGCATTGTTTGCCg > 3:211675/1‑135 (MQ=255) gctggGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCGGGCCATGGCATTGTTTGCCGAAAAgg < 6:249200/134‑1 (MQ=255) ggggCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCGGGCCATGGCATTGTTTGCCGAAAAGGGCttt < 3:263329/136‑1 (MQ=255) gggCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCGGGCCATGGCATTGTTTGCCGAAAAGGGCttt < 7:221748/135‑1 (MQ=255) aaGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCGGGCAATGGCATTGTTTGCCGAAAAGGGCTTTGGCCa < 1:273005/134‑1 (MQ=255) gcgGTTTGTTAACCTAATGAGGAGC‑AAGCGCCATGCCCCCCCGCAAAGCCGCAAATCGCTGTGCCAACTTTTAGGAGCGACGTGACCGGGCCAAGGCATTGTTTGCCGAAAAGGGCTTTGGCCCGGTaagcaagcc > 4:59634/1‑135 (MQ=255) gcgGGTTCTTGACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGGGACGTGTCCGGGCCATGGCATTGTTTTGCGAAAAGGGCTTTGGGCAGGTCAGCATgcg > 8:113047/1‑136 (MQ=255) gTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCGGGCCATGGCATTGTTTGCCGAAAAGGGCTTTGGCCAGGTCAGCATgcgc > 3:246574/1‑134 (MQ=255) ttcttcACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATTCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCGGGCCATGGCATTGTTTGCCGAAAAGGGCTTTGGCCAGGTCAGCATGCGCGAGc > 7:223673/1‑136 (MQ=255) cttcACCTACTGCGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCGGGCCATGGCATTGTTTGCCGAAAAGGGCTTTGGCCAGGTCAGCATGCGCGAGCt < 1:304878/135‑1 (MQ=255) | GATCGGCCTGGACACCCTGCTGGCAATCATGGAGGCCTTCCACGAAGGCTTCAACGACAGCAAATACCGCCCTGCTCCACTGCTCAAGGAAATGGTCGCGGCCGGCTGGCTGGGGCGCAAGAGCGGTCGCGGTTTCTTCACCTACTGAGGAGC‑AAGCGCCATGCCCCCGGTCAATGCCGCAATGCGCTGTGCCAACTTTGAGGAGCGACGTGACCGGGCCATGGCATTGTTTGCCGAAAAGGGCTTTGGCCAGGTCAGCATGCGCGAGCT > ACB143/4276894‑4277163 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 15 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |