Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 1,418,249 | G→T | 10.9% | L236L (CTG→CTT) | purC → | phosphoribosylaminoimidazole‑succinocarboxamide synthase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 1,418,249 | 0 | G | T | 10.9% | 160.6 / 8.0 | 59 | L236L (CTG→CTT) | purC | phosphoribosylaminoimidazole‑succinocarboxamide synthase |
Reads supporting (aligned to +/- strand): ref base G (24/28); new base T (3/4); total (27/32) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.98e-01 |
GTGCTGGGCGACGAGTTCAGCCCGGACGGCTGCCGCCTGTGGGACAAGGAAACCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCTGGTATGATGCGCGGCATTGGAGAGATGCCGGAGTGGTCGAACGGGACGGATTCGAAATCCGTTG > NC_002947/1418103‑1418389 | gTGCTGGGCGACGAGTTCAGCCCGGACGGCTGCCGCCTGTGGGACAAGGAAACCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGt < 4:361718/148‑1 (MQ=255) gCTGGGCGACGAGTTCAGCCCGGACGGCTGCCGCCTGTGGGACAAGGAAACCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAg > 5:308490/1‑149 (MQ=255) cTGGGCGACGAGTTCAGCCCGGACGGCTGCCGCCTGTGGGACAAGGAAACCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGc < 3:35938/149‑1 (MQ=255) cgacgaGTTCAGCCCGGACGGCTGCCGCCTGTGGGACAAGGAAACCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTTACAGCGGCAc < 3:144175/149‑1 (MQ=255) ttCAGCCCGGACGGCTGCCGCCTGTGGGACAAGGAAACCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACg > 3:84371/1‑149 (MQ=255) ttCAGCCCGGACGGCTGCCGCCTGTGGGACAAGGAAACCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCCCTGTAAGCGGCACGTTCACg > 1:170442/1‑149 (MQ=255) aGCCCGGACGGCTGCCGCCTGTGGGACAAGGAAACCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCAc > 7:270377/1‑145 (MQ=255) aGCCCGGACGGCTGCCGCCTGTGGGACAAGGAAACCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCAc < 8:270377/145‑1 (MQ=255) aGCCCGGACGGCTGCCGCCTGTGGGACAAGGAAACCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGc > 2:134595/1‑147 (MQ=255) aGCCCGGACGGCTGCCGCCTGTGGGACAAGGAAACCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGc > 6:345163/1‑147 (MQ=255) aGCCCGGACGGCTGCCGCCTGTGGGACAAGGAAACCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCaa < 1:287274/149‑1 (MQ=255) ggCTGCCGCCTGTGGGACAAGGAAACCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGt > 6:200659/1‑132 (MQ=255) ggCTGCCGCCTGTGGGACAAGGAAACCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGt < 5:200659/132‑1 (MQ=255) cTGCCGCCTGTGGGACAAGGAAACCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATAc > 4:313575/1‑149 (MQ=255) cTGCCGCCTGGGGGACAAGCAACCCCGCAAGAAGATGCCCAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATAc < 4:44582/149‑1 (MQ=255) gccTGTGGGACAAGGAAACCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCAcgc < 5:43416/149‑1 (MQ=255) gACAAGGAAACCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGAtttttt > 2:84392/1‑149 (MQ=255) aCAAGGAAACCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGAttttttt < 5:345163/149‑1 (MQ=255) aCAAGGAAACCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGAttttttt < 6:360340/149‑1 (MQ=255) ggAAACCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGaa > 3:329339/1‑148 (MQ=255) ggAAACCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGa < 8:76160/147‑1 (MQ=255) ggAAACCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGa > 7:76160/1‑147 (MQ=255) aaCCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGaaaaaa < 2:143979/149‑1 (MQ=255) ccGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCa < 2:49215/109‑1 (MQ=255) ccGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCa > 1:49215/1‑109 (MQ=255) cGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGAt > 5:35554/1‑149 (MQ=255) agaagaTGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCACTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGc < 6:20766/149‑1 (MQ=255) ggACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTa > 5:194138/1‑148 (MQ=255) aaGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAg > 4:373408/1‑148 (MQ=255) aGGACCGCTTCCGCCCGGGCCGGGGCTACGTCATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTTTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGaa < 4:5371/149‑1 (MQ=255) gACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGGTGTAAGCGGGACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACg > 1:366798/1‑149 (MQ=255) gcGCTTCCGCCAGGGACTGGGCGACGTTTTGGAATCATTCGAAGAATTTGACAAGCGCCTGGTCGTTCCTCTTTAAGCGTCACGTTCACGCAAGCGCATTATAACACGCGATTTTTTTGAAAAAAATATTTGCGTTTTAAAAGAACGCt < 1:84392/148‑1 (MQ=255) cGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCTg < 5:23409/149‑1 (MQ=255) ccGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCTGGTa < 8:191382/147‑1 (MQ=255) gCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCTGGTatgat > 1:242395/1‑149 (MQ=255) ccAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCTGGTatgatg > 5:106763/1‑149 (MQ=255) gggCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGaaaaaaa > 8:76590/1‑114 (MQ=255) gggCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGaaaaaaa < 7:76590/114‑1 (MQ=255) ggCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTACGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCTGGTATGATGcgcg < 1:188928/149‑1 (MQ=255) ggCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCTGGTatgat > 4:347884/1‑138 (MQ=255) ggCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCTGGTatgat < 3:347884/138‑1 (MQ=255) cGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCTGGTATGATGCGCGGCATTGga < 3:373408/149‑1 (MQ=255) gACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCTGGTATGATGCGCGGCATTGgag < 2:242395/149‑1 (MQ=255) cGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTTATACCACGCTATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCTGGTATGATGCGCGGCATTGgag < 8:200560/147‑1 (MQ=255) tGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCTGGTATGATGCGCGGCATTGGAGAGAt < 6:194138/149‑1 (MQ=255) aCGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTTAGCGGGCCGGTGCCGCAAGCGCCTGATACCACGCGCTTTTTTTGTAAAAAAGATTTGGGTTTTTAAAGAACGGTGGTTTGGTGCGCGGCCTTGGGGAGATGCCGGggtggtg > 8:197270/1‑148 (MQ=255) agaagTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGc < 7:46584/91‑1 (MQ=255) agaagTTGCCAAGCGCCTGGGCGTGCCGCGGTAAGCGGCACGTTAACGCAAGCGCCGGGTAACACGCGATTTTTTTTAAAAAAAGAttttc > 8:46584/1‑89 (MQ=255) ttGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCTGGTATGATGCGCGGCATTGGAGAGATGCCGGAGTGGTCGAACGGGAc < 6:106763/149‑1 (MQ=255) aaGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCTGGTATGATGCGCGGCATTGGAGAGATGCCGGAGTGGTCGAACGGGACGGAtt > 3:41887/1‑149 (MQ=255) aGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCTGGTATGATGCGCGGCATTGGAGAGATGCCGGAGTGGTCGAACGGGACGGATTc < 4:329339/149‑1 (MQ=255) cgcCTGGGCGGGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCTGGTATGATGCGCGGCATTGGAGAGATGCCGGAGTGGTCGAACGGGACGGATTCGa < 6:308490/149‑1 (MQ=255) gcCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCTGGTATGATGCGCGGCATTGGAGAGATGCCGGAGTGGTCGAACGGGACGGATTCGaa < 2:170442/149‑1 (MQ=255) gaacGTGCCGCTTACAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCTGGTATGATGCGCGGCATTGGAGAGATGCCGGAGTGGTCGAACGGGACGGATTCGAAATcc > 5:362364/4‑149 (MQ=255) ggCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCTGGTATGATGCGCGGCATTGGAGAGATGCCGGAGTGGTCGAACGGGACGGATTCGAAATcc < 6:35554/148‑1 (MQ=255) cGTGCCGCTTACAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCGGGTATGATGCGCGGCATTGGAGAGATGCCGGAGTGGTCGAACGGGACGGATTCGAAATCCGtt > 7:299241/1‑149 (MQ=255) gTGCCGCTTACAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCTGGTATGATGCGCGGCATTGGAGAGATGCCGGAGTGGTCGAAc > 4:205231/1‑127 (MQ=255) gTGCCGCTTACAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCTGGTATGATGCGCGGCATTGGAGAGATGCCGGAGTGGTCGAAc < 3:205231/127‑1 (MQ=255) gTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCTGGTATGATGCGCGGCATTGGAGAGATGCCGGAGTGGTCGAACGGGACGGATTCGAAATCCGTTg > 6:54322/1‑149 (MQ=255) | GTGCTGGGCGACGAGTTCAGCCCGGACGGCTGCCGCCTGTGGGACAAGGAAACCCGCAAGAAGATGGACAAGGACCGCTTCCGCCAGGGCCTGGGCGACGTGATCGAAGCCTACGAAGAAGTTGCCAAGCGCCTGGGCGTGCCGCTGTAAGCGGCACGTTCACGCAAGCGCCTGATACCACGCGATTTTTTTGAAAAAAAGATTTGCGTTTTAAAAGAACGCTGGTATGATGCGCGGCATTGGAGAGATGCCGGAGTGGTCGAACGGGACGGATTCGAAATCCGTTG > NC_002947/1418103‑1418389 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 21 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |