Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 1,293,918 | T→C | 7.9% | L156P (CTG→CCG) | pdxH → | pyridoxine/pyridoxamine 5'‑phosphate oxidase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 1,293,918 | 0 | T | C | 7.9% | 140.1 / 2.3 | 52 | L156P (CTG→CCG) | pdxH | pyridoxine/pyridoxamine 5'‑phosphate oxidase |
Reads supporting (aligned to +/- strand): ref base T (23/24); new base C (2/2); total (26/26) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.12e-01 |
TCAGGTGCGCATCGAGGGCCGGGTGCAGAAGGTCACGGCGCAGGAGTCGGATGCCTACTACCAGGTACGCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTGGGGGGGATACCGTTTGTTGCCCGAGCGCATCGAGTTCTGGCAGGGGCGGGCAAGTCGTCTGCATGATCGTTTGAACTATCGGCTGGTG > NC_002947/1293772‑1294063 | tCAGGTGCGCATCGAGGGCCGGGTGCAGAAGGTCACGGCGCAGGAGTCGGATGCCTACTACCAGGTACGCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCCgg > 7:26801/1‑149 (MQ=255) tCAGGTGCGCATCGAGGGCCGGGTGCAGAAGGTCACGGCGCAGGAGTCGGATGCCTACTACCAGGTACGCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCCgg > 3:9114/1‑149 (MQ=255) tGCGCATCGAGGGCCGGGTGCAGAAGGTCACGGCGCAGGAGTCGGATGCCTACTACCAGGTACGCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAg < 8:301238/149‑1 (MQ=255) gCCGGGTGCAGAAGGTCACGGCGCAGGAGTCGGATGCCTACTACCAGGTACGCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAgcg < 6:86721/149‑1 (MQ=255) ggTGCAGAAGGTCACGGCGCAGGAGTCGGATGCCTACTACCAGGTACGCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGtt > 1:157621/1‑149 (MQ=255) aGAAGGTCACGGCGCAGGAGTCGGATGCCTACTACCAGGTACGCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTcc < 4:33531/149‑1 (MQ=255) aGAAGGTCACGGCGCAGGAGTCGGATGCCTACTACCAGGTACGCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTcc > 7:32420/1‑149 (MQ=255) tCACGGCGCAGGAGTCGGATGCCTACTACCAGGTACGCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCCGGTAAAGGCCACCGAAGCGCGTTTCTCCGACAcc < 8:26801/149‑1 (MQ=255) cACGGCGCAGGAGTCGGATGCCTACTACCAGGTACGCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCCGGTAAAGGCCACCGAAGCGCGTTTCTCCGACAcc < 4:9114/148‑1 (MQ=255) ggCGCAGGAGTCGGATGCCTACTACCAGGTACGCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCAGGTAAAGGCCACCGAAGCGCGTTTCTcc > 7:168121/1‑139 (MQ=255) actacCAGGTACGCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTgg > 4:148425/1‑149 (MQ=255) ctacCAGGTACGCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTgg < 3:148425/148‑1 (MQ=255) ccAGGTACGCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGCCACCCAGCCG‑CACTGCCCTGAGCATTgggggg > 7:169954/1‑149 (MQ=255) ccAGGTACGCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAg < 3:60582/124‑1 (MQ=255) ccAGGTACGCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATAgggggg > 8:59697/1‑149 (MQ=255) ccAGGTACGCACGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGAGTGATTGCCTGGCTTGAAGAGCTGGAGGGCATGGTAAAGGCCACCGAAGCGCTGTTCTCCTACACACAg > 4:60582/1‑124 (MQ=255) ggTACGCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTGGGGGGGa > 7:105492/1‑148 (MQ=255) gTACGCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGTCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGacac < 1:220753/116‑1 (MQ=255) gTACGCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGacac > 2:220753/1‑116 (MQ=255) gTACGCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTGGGGGGGATa > 2:44526/1‑149 (MQ=255) gCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTggggg < 3:189870/140‑1 (MQ=255) gCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTggggg > 4:189870/1‑140 (MQ=255) gCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTATCCGACACCCAGCCG‑CACTGCCATGAGCATTGGGGGGGAAGCCGt > 4:248319/1‑149 (MQ=255) cccGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CGCTGCCCTGAGCATTg < 5:295029/135‑1 (MQ=255) cccGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CGCTGCCCTGAGCATTg > 6:295029/1‑135 (MQ=255) ttGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCGCCACTGCCCTGAGCATTGGGGGGGATACCGTttgt < 1:44526/149‑1 (MQ=255) cAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTGGGGGGGATACCGTTTGTTGccc > 4:150727/1‑148 (MQ=255) aGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCTGACACCCAGCCG‑CACTGCCCTGa < 1:214098/119‑1 (MQ=255) aGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCTGACACCCAGCCG‑CACTGCCCTGa > 2:214098/1‑119 (MQ=255) aGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTGGGGGGGATACCGTTTGTTGCCCGa < 8:23427/149‑1 (MQ=255) gCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTg < 5:256531/114‑1 (MQ=255) gCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTg > 6:256531/1‑114 (MQ=255) ggggCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTGGGGGGGATACCGTTTGTTGCCCGAGCGCATc < 2:157621/147‑1 (MQ=255) gCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTGGGGGGGATACCGTTTGTTGCCCGAGCGCATCGAGtt < 3:150727/149‑1 (MQ=255) cTTCGCCACAGAGCCGCGTGATTGCCGGGTGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTGGGGGGGATACCGTTTGTTGCCCGAGCGCATCGAGTTCTGGCAg > 6:127599/1‑149 (MQ=255) cTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTGGGGGGGATACCGTTTGTTGCCCGAGCGCATCGAGTTCTGGCAg > 1:194440/1‑149 (MQ=255) cacaGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTG‑CCTGAGCATTGGGGGGGATACCGTTTGTTGCCCGAGCGCATCGAGTTCTGGCAGgggcggg < 8:32420/149‑1 (MQ=255) gcgcgTGATTGCCGGGCGTGAAGAGGTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTGGGGGGGATACCGTTTGTTGCCCGAGCGCATCGAGTTCTGGCAGGGGCGGGCAAgtc < 3:248319/148‑1 (MQ=255) gcgTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTGGGGGGGATACCGTTTGTTGCCCGAGCGCATCGAGTTCTGGCAGGGGCGGGCAAgtcgt < 2:194440/149‑1 (MQ=255) gTGATTGCCGGGTGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTGGGGGGGATACCGTTTGTTGCCCGAGCGCATCGAGTTCTGGCAGGGGCGGGCAAGTCGTCt < 5:127599/149‑1 (MQ=255) gATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTGGGGGGGATACCGTTTGTTGCCCGAGCGCATCGAGTTCTGGCAGGGGCGGGCAAGTCGTCTg > 4:176946/1‑148 (MQ=255) cGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTGGGGGGGATACCGTTTGTTGCCCGAGCGCATCGAGTTCTgg < 7:203773/121‑1 (MQ=255) cGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTGGGGGGGATACCGTTTGTTGCCCGAGCGCATCGAGTTCTgg > 8:203773/1‑121 (MQ=255) cGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTGGGGGGGATACCGTTTGTTGCCCGAGCGCATCGAGTTCTGGCAGGGGCGGGCAAGTCGTCTGCATGATc < 3:176946/149‑1 (MQ=255) aaGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTGGGGGGGATACCGTTTGTTGCCCGAGCGCATCGAGTTCTGGCAGGGGCGGGCaa > 7:69910/1‑126 (MQ=255) aaGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTGGGGGGGATACCGTTTGTTGCCCGAGCGCATCGAGTTCTGGCAGGGGCGGGCaa < 8:69910/126‑1 (MQ=255) gagCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTGGGGGGGATACCGTTTGTTGCCCGAGCGCATCGAGTTCTGGCAGGGGCGGGCAAGTCGTCTGCATGATCGTTTGAACTa < 8:169954/149‑1 (MQ=255) gCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTgggggg < 2:239281/74‑1 (MQ=255) gCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTgggggg > 1:239281/1‑74 (MQ=255) ggAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTGGGGGGGATACCGTTTGTTGCCCGAGCGCATCGAGTTCTGGCAGGGGCGGGCAAGTCGTCTGCATGATCGTTTGAACTATCGGc > 3:9817/1‑149 (MQ=255) ggCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTGGGGGGGATACCGTTTGTTGCCCGAGCGCATCGAGTTCTGGCAGGGGCGGGCAAGTCGTCTGCATGATCGTTTGAACTATCGGCtggt < 4:9817/149‑1 (MQ=255) ccTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTGGGGGGGATACCGTTTGTTGCCCGAGCGCATCGAGTTCTGGCAGGGGTGGGCAAGTCGTCTGCATGATCGTTTGAACTATCGGCtggtg > 6:287728/1‑148 (MQ=255) | TCAGGTGCGCATCGAGGGCCGGGTGCAGAAGGTCACGGCGCAGGAGTCGGATGCCTACTACCAGGTACGCCCGTTGGGCAGTCGCCTGGGGGCCTGGGCTTCGCCACAGAGCCGCGTGATTGCCGGGCGTGAAGAGCTGGAGGGCCTGGTAAAGGCCACCGAAGCGCGTTTCTCCGACACCCAGCCG‑CACTGCCCTGAGCATTGGGGGGGATACCGTTTGTTGCCCGAGCGCATCGAGTTCTGGCAGGGGCGGGCAAGTCGTCTGCATGATCGTTTGAACTATCGGCTGGTG > NC_002947/1293772‑1294063 |
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: ‑ |