Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 1,153,793 | C→T | 8.2% | A230V (GCG→GTG) | glk → | glucokinase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 1,153,793 | 0 | C | T | 8.2% | 136.1 / 3.0 | 49 | A230V (GCG→GTG) | glk | glucokinase |
Reads supporting (aligned to +/- strand): ref base C (20/25); new base T (2/2); total (22/27) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.78e-01 |
ATCGGTCATGTCAGCGCCGAGGCCGTGCTCAGTGGGGGTGGCCTGGTGCGGCTGTACCAGGCGATCTGTGCGCTGGACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAATGTGCTGACGCTGGGCGCGCGAGGCGGGGTCTATATTGTGGGCGGTGTGATTCCGCGCTTTGCCGAGCTGTTCCTGCGTAGCGGGTTT > NC_002947/1153648‑1153935 | aTCGGTCATGTCAGCGCCGAGGCCGTGCTCAGTGGGGGTGGCCTGGTGCGGCTGTACCAGGCGATCTGTGCGCTGGACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTg < 1:128885/150‑1 (MQ=255) tCATGTCAGCGCCGAGGCCGTGCTCAGTGGGGGTGGCCTGGTGCGGCTGTACCAGGCGATCTGTGCGCTGGACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCggt < 1:193475/150‑1 (MQ=255) gTCAGCGCCGAGGCCGTGCTCAGTGGGGGTGGCCTGGTGCGGCTGTACCAGGCGATCTGTGCGCTGGACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTc < 1:652194/150‑1 (MQ=255) cGAGGCCGTGCTCAGTGGGGGTGGCCTGGTGCGGCTGTACCAGGCGATCTGTGCGCTGGACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGtt < 2:541914/150‑1 (MQ=255) cGTGCTCAGTGGGGGTGGCCTGGTGCGGCTGTACCAGGCGATCTGTGCGCTGGACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCa < 2:97390/141‑1 (MQ=255) cGTGCTCAGTGGGGGTGGCCTGGTGCGGCTGTACCAGGCGATCTGTGCGCTGGACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCa > 1:97390/1‑141 (MQ=255) cGTGCTCAGTGGGGGTGGCCTGGTGCGGCTGTACCAGGCGATCTGGGCGCTGGACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCg > 1:498425/1‑150 (MQ=255) cTCAGTGGGGGTGGCCTGGTGCGGCTGTACCAGGCGATCTGTGCGCTGGACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTc < 1:733203/150‑1 (MQ=255) tCAGTGGGGGTGGCCTGGTGCGGCTGTACCAGGCGATCTGTGCGCTGGACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTcc > 1:705046/1‑150 (MQ=255) ccTGGTGCGGCTGTACCAGGCGATCTGTGCGCTGGACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGc > 2:390586/1‑150 (MQ=255) cTGGTGCGGCTGTACCAGGCGATCTGTGCGCTGGACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCg > 2:429996/1‑150 (MQ=255) ggTGCGGCTGTACCAGGCGATCTGTGCGCTGGACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCggg < 2:279927/150‑1 (MQ=255) gTGCGGCTGTACCAGGCGATCTGTGCGCTGGACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGt > 2:272783/1‑150 (MQ=255) cTGTACCAGGCGATCTGTCGGCTGGCCGGCGACACGCCCAGGGACACGACCCCGGCGCATATCACCGATGCCGCGCTCGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCCTGGGCGAGTGGCGGGtaatgac > 2:217711/1‑147 (MQ=255) tGTACCAGGCGATCTGTGCGCTGGACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGTGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAAtg > 1:559974/1‑150 (MQ=255) tACCAGGCGATCTGTGCGCTGGACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAAtgtg < 1:598432/150‑1 (MQ=255) ccAGGCGATCTGTGCGCTGGACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAAtg > 2:143703/1‑146 (MQ=255) ccAGGCGATCTGTGCGCTGGACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAAtg < 1:143703/146‑1 (MQ=255) cAGGCGATCTGTGCGCTGGACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCCTGCGCGTGAGTCGGGTAATAATGTACTg > 2:439704/1‑150 (MQ=255) ggCGATCTGTGCGCTGGACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAATGTGCTGAc > 2:669062/1‑150 (MQ=255) gATCTGTGCGCTGGACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTg < 2:758733/119‑1 (MQ=255) gATCTGTGCGCTGGACGGCGACACGCCCAGGCACAAGACCACGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTg > 1:758733/1‑119 (MQ=255) tCTGTGCGCTGGACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAATGTGCTGACGCTgg > 1:726435/1‑150 (MQ=255) gACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGc > 1:679492/1‑88 (MQ=255) gACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGc < 2:679492/88‑1 (MQ=255) ggCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAATGTGCTGACGCTGGGCGCGCGAGGCggg < 2:498425/150‑1 (MQ=255) ggCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTg < 2:223739/98‑1 (MQ=255) ggCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTg > 1:223739/1‑98 (MQ=255) caAGACCCCGGCGCATATCACCGATGCCCCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAATGTGCTGACGCTGGGCGCGCGAGGCGGGGTCTATATTGTGGGCgg < 1:586497/150‑1 (MQ=255) aaGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGTGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAATGTGCTGACGCTGGGCGCGCGAGACGGGGTCTATATTGTggg < 2:206590/146‑1 (MQ=255) aaGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGTGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAATGTGCTGACGCTGGGCGCGCGAGACGGGGTCTATATTGTggg > 1:206590/1‑146 (MQ=255) aaGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAATGTGCTGACGCTGGGCGCGCGAGGCGGGGTCTATATTGTGGGCGgt < 1:500171/150‑1 (MQ=255) aaGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAATGTGCTGACGCTGGGCGCGCGAGGCGGGGTCTATATTGTGGGCGgt < 1:272783/150‑1 (MQ=255) gACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAATGTGCTGACGCTGGGCGCGCGAGGCGGGGTCTATATTGTGGGCGgtgt < 2:705046/150‑1 (MQ=255) ccccGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAATGTGCTGACGCTGGGCGCGCGAGGCGGGGTCTATATTGTGGGCGGTGTGa < 1:669062/150‑1 (MQ=255) gcATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAAtgtg > 1:43722/1‑97 (MQ=255) gcATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAAtgtg < 2:43722/97‑1 (MQ=255) aCCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAATGTGCTGACGCTGGGCGCGCGAGGCGGGGTCTATATTGTGGGCGGTGTGATTCCGCGCTTTGcc < 2:726435/150‑1 (MQ=255) aCCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAATGTGCTGACGCTGGGCGCGCGAGGCGGGGTCTATATTGTGGGCGGTGTGATTCCGCGCTTTGcc > 1:788801/1‑150 (MQ=255) aCCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAATGTGCTGACGCTGGGCGCGCGACGCGGGGTCTATATTGTGGGCGGTGTGATTCCGCGCTTTGcc > 2:543787/1‑150 (MQ=255) gATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAATGTGCTGACGCTGGGCGCGCGAGGCGGGGTCTATATTGTGGGCGGTGTGATTCCGCGCTTTGCCGAg < 1:390586/150‑1 (MQ=255) gcgcTGGGCGGGGAGCCACGGGTGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAATGTGCTGACGCTGGGCGCGCGAGGCGGGGTCTATATTGTGGGCGGTGTGATTCCGCGCTTTGCCGAGCTGTTc < 2:559974/150‑1 (MQ=255) gcgcTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAATGTGCTGACGCTGGGCGCGCGAGGCGGGGTCTATATTGTGGGCGGTGTGATTCCGCGCTTTGCCGAGCTGTTc < 2:788801/150‑1 (MQ=255) tGGGCGGGGGGCCACGGCCGTTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAATGTGCTGACGCCGGGCGGGTGAGGCGGGCCGTATTCTGTGGGCGGTGTGATTCCGCGCTTTGCCGAGCTGTTCCTGc < 1:217711/150‑1 (MQ=255) ccACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAATGTGCTGACGCTGGGCGCGCGAGGCGGGGCGGAGATTGTGGGCGGTGTGATTCCGCGCTTTGCCGAGCTGTTCCTGCGTAGCGGGttt > 1:209921/1‑150 (MQ=255) ccACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTACTTGGGCGAGTGGCGGGTAATAATGTGCTGACGCTGGGCGCGCGAGGCGGGGTCTATATTGTGGGCGGTGTGATTCCGCGCTTTGCCGAGCTGTTCCTGCGTAGc > 2:143631/1‑144 (MQ=255) ccACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTACTTGGGCGAGTGGCGGGTAATAATGTGCTGACGCTGGGCGCGCGAGGCGGGGTCTATATTGTGGGCGGTGTGATTCCGCGCTTTGCCGAGCTGTTCCTGCGTAGc < 1:143631/144‑1 (MQ=255) aCGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAATGTGCTGACGCTGGGCGCGCGAGGCggg > 2:554265/1‑88 (MQ=255) aCGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAATGTGCTGACGCTGGGCGCGCGAGGCggg < 1:554265/88‑1 (MQ=255) | ATCGGTCATGTCAGCGCCGAGGCCGTGCTCAGTGGGGGTGGCCTGGTGCGGCTGTACCAGGCGATCTGTGCGCTGGACGGCGACACGCCCAGGCACAAGACCCCGGCGCATATCACCGATGCCGCGCTGGGCGGGGAGCCACGGGCGCTGGCGGTGGTCGAGCAGTTCTGTCGTTTCCTTGGGCGAGTGGCGGGTAATAATGTGCTGACGCTGGGCGCGCGAGGCGGGGTCTATATTGTGGGCGGTGTGATTCCGCGCTTTGCCGAGCTGTTCCTGCGTAGCGGGTTT > NC_002947/1153648‑1153935 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |