Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913 | 500,360 | A→G | E79G (GAA→GGA) | gsk → | inosine/guanosine kinase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913 | 500,360 | 0 | A | G | 100.0% | 227.7 / NA | 62 | E79G (GAA→GGA) | gsk | inosine/guanosine kinase |
Reads supporting (aligned to +/- strand): ref base A (0/0); new base G (32/30); total (32/30) |
GTGGGTATCGATCAAACGCTGGTCGATATTGAAGCGAAAGTGGATGATGAATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGAACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACACCATGCACAACTACTCGGTGCTCGCGGACGACCGTTCGGTGCTGCTGGGCGTCATGTGCAGCAATATTG > NC_000913/500233‑500485 | gTGGGTATCGATCAAACGCTGGTCGATATTGAAGCGAAAGTGGATGATGAATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGa > 1:598441/1‑139 (MQ=255) tCGATCAAACGCTGGTCGATATTGAAGCGAAAGTGGATGATGAATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAAc < 2:363224/129‑1 (MQ=255) tCGATCAAACGCTGGTCGATATTGAAGCGAAAGTGGATGATGAATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAAc > 1:363224/1‑129 (MQ=255) gATCAAACGCTGGTCGATATTGAAGCGAAAGTGGATGATGAATTTATTGATCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGa < 2:641184/139‑1 (MQ=255) tCAAACGCTGGTCGATATTGAAGCGAAAGTGGATGATGAATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGAtt > 2:560826/1‑139 (MQ=255) aCGCTGGTCGATATTGAAGCGAAAGTGGATGATGAATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTAccc > 1:190969/1‑139 (MQ=255) gTCGATATTGAAGTGAAAGTGGATGATGAATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGt > 1:810486/1‑139 (MQ=255) gTCGATATTGAAGCGAAAGTGGATGATGAATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGt > 2:696540/1‑139 (MQ=255) gTCGATATTGAAGCGAAAGTGGATGATGAATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGt > 2:867297/1‑139 (MQ=255) gTCGATATTGAAGCGAAAGTGGATGATGAATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGt > 2:900290/1‑139 (MQ=255) gTCGATATTGAAGCGAAAGTGGATGATGAATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGAGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGt > 1:822849/1‑139 (MQ=255) tGAAGCGAAAGTGGATGATGAATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGt < 1:867297/139‑1 (MQ=255) aaGCGAAAGTGGATGATGAATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTgg > 1:576859/1‑139 (MQ=255) aaGCGAAAGTGGATGATGAATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTgg > 1:977470/1‑139 (MQ=255) gAAAGTGGATGATGAATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCAcc < 2:741743/139‑1 (MQ=255) gAAAGTGGATGATGAATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCAcc < 1:900290/139‑1 (MQ=255) gAAAGTGGATGATGAATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCAcc < 2:576859/139‑1 (MQ=255) aaaGTGGATGATGAATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAAc > 2:188031/1‑108 (MQ=255) aaaGTGGATGATGAATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAAc < 1:188031/108‑1 (MQ=255) aaaGTGGATGATGAATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGttt < 2:320704/126‑1 (MQ=255) aaaGTGGATGATGAATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGttt > 1:320704/1‑126 (MQ=255) aaaGTGGATGATGAATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCa < 1:771306/139‑1 (MQ=255) gatgaATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAaca < 1:560826/139‑1 (MQ=255) gatgaATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAaca < 2:598441/139‑1 (MQ=255) aTTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACACCATg < 2:810486/139‑1 (MQ=255) tATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACACCATGcac < 2:190969/139‑1 (MQ=255) gAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCGGCGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACACCATGCACAact > 1:588690/1‑139 (MQ=255) tAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACACCATGCACAACTACTCGGTGCTcgc > 2:196729/1‑139 (MQ=255) aGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTa < 1:371575/109‑1 (MQ=255) aGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTa > 2:371575/1‑109 (MQ=255) aGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACAcc > 1:145737/1‑114 (MQ=255) aGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACAcc < 2:145737/114‑1 (MQ=255) gcgcCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACACCATGCACAACTACTCGGTGCTCGCGga > 2:849985/1‑139 (MQ=255) gTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACACCATGCACAACTACTCg < 1:10585/111‑1 (MQ=255) gTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACACCATGCACAACTACTCg > 2:10585/1‑111 (MQ=255) gTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACACCATGCACAACTACTCGGTGCTCGCGGACGACCGTTCGGtgctgc > 1:716145/1‑139 (MQ=255) aTTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCAcc < 1:352724/81‑1 (MQ=255) aTTGAGGATGATGTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCAcc > 2:352724/1‑81 (MQ=255) tgatgTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACACCATGCACAACTACTCGGTGCTCGCGGACGACCGTTCGGTGCTGCTGGGCg < 1:220690/134‑1 (MQ=255) tgatgTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACACCATGCACAACTACTCGGTGCTCGCGGACGACCGTTCGGTGCTGCTGGGCg > 2:220690/1‑134 (MQ=255) atgTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCAt > 2:152961/1‑53 (MQ=255) atgTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCAt < 1:152961/53‑1 (MQ=255) atgTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCa < 2:314618/69‑1 (MQ=255) atgTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCa > 1:314618/1‑69 (MQ=255) atgTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACACCATGca < 1:659082/88‑1 (MQ=255) atgTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACACCATGca > 2:659082/1‑88 (MQ=255) atgTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACACCATGCACAACTACTCGGTGCTCGCGGACGACCGTTCGGTGCTGCTGGGCGTCAtgtg < 1:196729/139‑1 (MQ=255) atgTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACACCATGCACAACTACTCGGTGCTCGCGGACGACCGTTCGGTGCTGCTGGGCGTCAtgtg < 1:696540/139‑1 (MQ=255) tgTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACACCATg > 2:319334/1‑85 (MQ=255) tgTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACACCATg < 1:319334/85‑1 (MQ=255) tgTAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACACCATGCACAACTACTCGGTGCTCGCGGACGACCGTTCGGTGCTGCTGGGCGTCATGTgc > 1:1003498/1‑139 (MQ=255) tAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTATCCATCAGTTTGCGGGTGGCACCATTGGTAACTCCATGCACAACTACTCGGTGCTCGCGGACGACCGTTCGGTGCTGCTGGGCGTCATGTgcag < 2:977470/139‑1 (MQ=255) tAGCCGAAGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACACCATGCACAACTACTCGGTGCTCGCGGACGACCGTTCGGTGCTGCTGGGCGTCATGTgcag < 1:849985/139‑1 (MQ=255) aGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCAt < 2:649288/43‑1 (MQ=255) aGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCAt > 1:649288/1‑43 (MQ=255) aGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAaca < 2:471526/71‑1 (MQ=255) aGCGCTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAaca > 1:471526/1‑71 (MQ=255) gcgcTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACACCATGCACAACTACTCGGTGCTCGCGGACGACCGTTCGGTGCTGCTGGGCGTCATGTGCAGCAATAtt > 1:93093/1‑138 (MQ=255) gcgcTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACACCATGCACAACTACTCGGTGCTCGCGGACGACCGTTCGGTGCTGCTGGGCGTCATGTGCAGCAATAtt < 2:93093/138‑1 (MQ=255) gcgcTTTATCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACACCATGCACAACTACTCGGTGCTCGCGGACGACCGTTCGGTGCTGCTGGGCGTCATGTGCAGCAATATTg > 1:403062/1‑139 (MQ=255) tCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTa > 2:71455/1‑59 (MQ=255) tCAGGGACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTa < 1:71455/59‑1 (MQ=255) | GTGGGTATCGATCAAACGCTGGTCGATATTGAAGCGAAAGTGGATGATGAATTTATTGAGCGTTATGGATTAAGCGCCGGGCATTCACTGGTGATTGAGGATGATGTAGCCGAAGCGCTTTATCAGGAACTAAAACAGAAAAACCTGATTACCCATCAGTTTGCGGGTGGCACCATTGGTAACACCATGCACAACTACTCGGTGCTCGCGGACGACCGTTCGGTGCTGCTGGGCGTCATGTGCAGCAATATTG > NC_000913/500233‑500485 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 30 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |