Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 239,116 | C→G | 12.5% | A66G (GCC→GGC) | 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 | 239,116 | 0 | C | G | 12.5% | 133.7 / 11.9 | 48 | A66G (GCC→GGC) | hemD | uroporphyrinogen‑III synthase |
Reads supporting (aligned to +/- strand): ref base C (20/22); new base G (3/3); total (23/25) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.47e-01 |
GGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTGGTTCACCGTGGGTGAGGCAACCGCTGGTGTGCTGCAGGGTGCTGGGCTGAAGGTTTGCTTTCCGCCGCGTGGCGATGACAGCG > NC_002947/238973‑239259 | ggCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGTTGTCGCTGGAAGGCTTGCATGACTTCCATGCGATCATTGTGGTCAGCAAGCCGGCCGCCCg < 2:313953/150‑1 (MQ=255) gcgcAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCgg < 1:236188/150‑1 (MQ=255) cAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTg > 1:132880/1‑150 (MQ=255) aaaGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGGCGGCCGGCttg > 2:678854/1‑148 (MQ=255) ccTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGGCGGCCGGCttgctga < 1:678854/150‑7 (MQ=255) ggcggcAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGa < 1:768024/150‑1 (MQ=255) aGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAAAAAATTGCGGTGCATGCCCCATTTCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGAAAGCCGGCCGCCCGCCTGTTGCTTTTGTATCTGGTCga < 2:772392/150‑1 (MQ=255) ggCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGAcc > 1:512643/1‑150 (MQ=255) gcagcaGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGGCGGCCGGCttgc > 2:708280/1‑124 (MQ=255) gcagcaGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGGCGGCCGGCttgc > 2:708249/1‑124 (MQ=255) gcagcaGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGGCGGCCGGCttgc < 1:708280/127‑4 (MQ=255) gcagcaGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGGCGGCCGGCttgc < 1:708249/127‑4 (MQ=255) gcagcaGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCa > 1:788306/1‑150 (MQ=255) gcagcaGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCa > 1:671348/1‑150 (MQ=255) gcagTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCa > 2:237425/1‑150 (MQ=255) ttGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCa < 2:448152/150‑1 (MQ=255) ctgctgGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAg > 2:142876/1‑150 (MQ=255) aTTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTgg < 2:399109/150‑1 (MQ=255) aTTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTgg > 2:79860/1‑150 (MQ=255) ccATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGa < 2:471600/100‑1 (MQ=255) ccATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGa > 1:471600/1‑100 (MQ=255) ttACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTGGTTCACCGTgg < 2:401846/150‑1 (MQ=255) ccGTGCAAGCCCCACAGCGGCTGTCGCTGTAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTGGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTGGTTCACCGTGGGTg < 1:316403/150‑1 (MQ=255) cAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTGGTTCACCGTGGGTGAGGCa > 2:243686/1‑150 (MQ=255) aGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTGGTTCACCGTGGGTGAGGCAAc > 1:315947/1‑150 (MQ=255) gCCCCACAGTGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTGGTTCACCGTGGGTGAGGCAAcc < 1:69999/150‑1 (MQ=255) ccccACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGc < 2:161057/125‑1 (MQ=255) ccccACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGc > 1:161057/1‑125 (MQ=255) ccACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTgg < 1:265551/126‑1 (MQ=255) ccACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTgg > 2:265551/1‑126 (MQ=255) ccACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTGGTTCACCGTgg < 2:537379/136‑1 (MQ=255) ccACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTGGTTCACCGTgg > 1:537379/1‑136 (MQ=255) acaGCGGCTGTCGCTGGAAGACGGGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTGGTTCACCGTGGGTGAGGCAACCGCTgg < 1:639719/150‑1 (MQ=255) cGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTGGTTCACCGTGGGTGAGGCAACCGCTGGTGTGCTGCAgg < 1:79860/150‑1 (MQ=255) gCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTGGTTCACCGTGGGTGAGGCAACCGCTGGTGTGCTGCAggg > 2:200059/1‑150 (MQ=255) gACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTGGTTCACCGTGGGTGAGGCAACCGCTGGTGTGCTGCAGGGTGCTGGGCTGAAg > 1:701754/1‑147 (MQ=255) gACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTGGTTCACCGTGGGTGAGGCAACCGCTGGTGTGCTGCAGGGTGCTGGGCTGAAg < 2:701754/147‑1 (MQ=255) aCTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTGGTTCACCGTGGGTGAGGCAACCGCTGGTGTGCTGCAGGGTGCTGGGCTGAAGGttt < 2:788306/150‑1 (MQ=255) cTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTGGTTCACCGTGGGTGAGGCAACCGCTGGTGTGCTGCAGGGTGCTGGGCTGAAGGTTTg < 1:142876/150‑1 (MQ=255) ttCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTGGTTCACCGTGGGTGAGGCAACCGCTGGTGTGCTGCAGGGTGCTGGGCTGAAGGTTTGc < 1:243686/150‑1 (MQ=255) cATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTg > 2:250249/1‑81 (MQ=255) cATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTg < 1:250249/81‑1 (MQ=255) ttGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTGGTTCACCGTGGGTGAGGCAACCGCTGGTGTGCTGCAGGGTGCTGGGCTGAAGGTTTGCTTTCCGCCGCGTg < 1:200059/150‑1 (MQ=255) tCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTGGTTCACCGTGGGTGAg < 2:626480/89‑1 (MQ=255) tCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTGGTTCACCGTGGGTGAGGCAACCGCTGGTGTGCTGCAGGGTGCTGGGCTGAAGGTTTGCTTTCCGCCGCGTGGCGATg > 2:782465/1‑150 (MQ=255) tCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTGGTTCACCGTGGGTGAGGCAACCGCTGGTGTGCTGCAGGGTGCTGGGCTGAAGGTTTGCTTTCCGCCGCGTGGCGATg > 1:140270/1‑150 (MQ=255) gcAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTGGTTCACCGTGGGTGAg > 1:626480/2‑89 (MQ=255) aGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTGGTTCACCGTGGGTGAGGCAACCGCTGGTGTGCTGCAGGGTGCTGGGCTGAAGGTTTGCTTTCCGCCGCGTGGCGATGACAGCg > 2:344314/1‑150 (MQ=255) | GGCGCAAAGCCTGGCGGCAGCGGGAGTGGGCAGCAGTTGCCTGCCCCTGCTGGAGATTGAACCCATTACCGTGCAAGCCCCACAGCGGCTGTCGCTGGAAGGCTTGCATGACTTCCAGGCGATCATTGTGGTCAGCAAGCCGGCCGCCCGGCTGTTGCTTGAGCATCTGGCCGAGACCAGCATCCAGCCTCCGCAGCGAGGCTGGTTCACCGTGGGTGAGGCAACCGCTGGTGTGCTGCAGGGTGCTGGGCTGAAGGTTTGCTTTCCGCCGCGTGGCGATGACAGCG > NC_002947/238973‑239259 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |