Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 239,006 | C→T | 7.7% | S29S (AGC→AGT) | hemD → | uroporphyrinogen‑III synthase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 239,006 | 0 | C | T | 7.7% | 150.4 / 2.2 | 52 | S29S (AGC→AGT) | hemD | uroporphyrinogen‑III synthase |
Reads supporting (aligned to +/- strand): ref base C (24/24); new base T (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 = 7.26e-01 |
GACCTGCTGGGGCAGGGCGCCGAGGCCATTCTGAAGGAAGTCTACGGCGAGGCCGGTCACCCGTGAGCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCA > NC_002947/238858‑239154 | gACCTCCTGGGGCAGGGCGCCGAGGCCATTCTGAAGGAAGTCTACGGCGAGGCCGGTCACCCGTGAGCCAATGGCGCCAGTTGCTGACCCGGCCTGCCGAGGTCTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGgcagc < 8:52498/149‑1 (MQ=255) ctgctgGGGCAGGGCGCCGAGGCCATTCTGAAGGAAGTCTACGGCGAGGCCGGTCACCCGTGAGCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGt > 8:212286/1‑149 (MQ=255) tgctgGGGCAGGGCGCCGAGGCCATTCTGAAGGAAGTCTACGGCGAGGCCGGTCACCCGTGAGCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGtt > 5:165463/1‑149 (MQ=255) gctgGGGCAGGGCGCCGAGGCCATTCTGAAGGAAGTCTACGGCGAGGCCGGTCACCCGTGAGCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGcagcag > 4:107034/1‑146 (MQ=255) gctgGGGCAGGGCGCCGAGGCCATTCTGAAGGAAGTCTACGGCGAGGCCGGTCACCCGTGAGCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGcagcag < 3:107034/146‑1 (MQ=255) gggCAGGGCGCCGAGGCCATTCTGAAGGAAGTCTACGGCGAGGCCGGTCACCCGTGAGCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTtgcct < 1:175770/148‑1 (MQ=255) cAGGGCGCCGAGGCCATTCTGAAGGAAGTCTACGGCGAGGCCGGTCACCCGTGAGCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGccc < 3:33814/149‑1 (MQ=255) cAGGGCGCCGAGGCCATTCTGAAGGAAGTCTACGGCGAGGCCGGTCACCCGTGAGCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGccc < 7:296653/149‑1 (MQ=255) ggCGCCGAGGCCATTCTGAAGGAAGTCTACGGCGAGGCCGGTCACCCGTGAGCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCctg > 7:61518/1‑149 (MQ=255) ggCCATTCTGAAGGAAGTCTACGGCGAGGCCGGTCACCCGTGAGCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGgaga < 1:93287/148‑1 (MQ=255) aTTCTGAAGGAAGTCTACGGCGAGGCCGGTCACCCGTGAGCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGaa < 4:117748/149‑1 (MQ=255) aaggaagTCTACGGCGAGGCCGGTCACCCGTGAGCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCAtt < 7:175009/149‑1 (MQ=255) gaagTCTACGGCGAGGCCGGTCACCCGTGAGCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTAcc > 2:265402/1‑149 (MQ=255) tCTACGGCGAGGCCGGTCACCCGTGAGCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTg > 4:222644/1‑148 (MQ=255) tCTACGGCGAGGCCGGTCACCCGTGAGCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGc < 8:101308/149‑1 (MQ=255) tCTACGGCGAGGCCGGTCACCCGTGAGCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGc < 6:165463/149‑1 (MQ=255) tCACCCGTGAGCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCt > 7:144968/1‑149 (MQ=255) ccGTGAGCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCg > 2:291594/1‑149 (MQ=255) gTGAGCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGt < 7:7605/145‑1 (MQ=255) gTGAGCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGt > 8:7605/1‑145 (MQ=255) tGAGCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTg > 8:283544/1‑149 (MQ=255) gCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGTAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTgg > 4:299997/1‑147 (MQ=255) gCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGTAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTgg > 4:304872/1‑147 (MQ=255) gCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCg > 8:123909/1‑136 (MQ=255) gCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCg < 7:123909/136‑1 (MQ=255) gCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTgg > 8:90270/1‑147 (MQ=255) cAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAgg > 5:83392/1‑149 (MQ=255) tGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGTAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCtt < 3:299997/149‑1 (MQ=255) tGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGTAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCtt < 3:304872/149‑1 (MQ=255) gCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTc < 6:83392/148‑1 (MQ=255) gCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTc > 5:213864/1‑148 (MQ=255) cTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTcc < 7:94749/148‑1 (MQ=255) tGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCctgct > 7:135871/1‑82 (MQ=255) tGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCctgct < 8:135871/82‑1 (MQ=255) aCCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAgg < 8:61518/148‑1 (MQ=255) cccGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCAt > 7:122329/1‑137 (MQ=255) cccGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCAt < 8:122329/137‑1 (MQ=255) ccGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGa > 4:5901/1‑149 (MQ=255) gCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCTCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTTGCTGGAAGGCTTGCATGACTTCCAGGCGATCa < 7:212286/149‑1 (MQ=255) cTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCAtt > 1:124340/1‑149 (MQ=255) cTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCAtt < 3:222644/149‑1 (MQ=255) tGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATtg > 8:279222/1‑149 (MQ=255) ccGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATtgt < 1:265402/148‑1 (MQ=255) ccGAGGACTGCGCGGCGCTGGCGAAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATtgtg > 3:96517/1‑149 (MQ=255) tGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGc > 8:62547/1‑147 (MQ=255) ggcgCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAgccgg < 3:5901/149‑1 (MQ=255) ggcgCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAgccgg > 2:152071/1‑149 (MQ=255) gcgcAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCg > 4:27512/1‑149 (MQ=255) aGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGtt < 6:293883/149‑1 (MQ=255) gCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTg < 8:144968/149‑1 (MQ=255) tGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCtt > 8:154115/1‑149 (MQ=255) tGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCtt > 3:133927/1‑149 (MQ=255) gcggcAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGa < 7:90270/149‑1 (MQ=255) gcggcAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGa < 1:32791/149‑1 (MQ=255) ggAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGc < 6:213864/149‑1 (MQ=255) cagTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCa < 7:279222/149‑1 (MQ=255) | GACCTGCTGGGGCAGGGCGCCGAGGCCATTCTGAAGGAAGTCTACGGCGAGGCCGGTCACCCGTGAGCCAATGGCGCCTGTTGCTGACCCGGCCTGCCGAGGACTGCGCGGCGCTGGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCA > NC_002947/238858‑239154 |
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: ‑ |