Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913 | 4,538,491 | C→T | G92D (GGC→GAC) | nanM ← | N‑acetylneuraminic acid mutarotase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913 | 4,538,491 | 0 | C | T | 100.0% | 160.9 / NA | 47 | G92D (GGC→GAC) | nanM | N‑acetylneuraminic acid mutarotase |
Reads supporting (aligned to +/- strand): ref base C (0/0); new base T (25/22); total (25/22) |
TCACATGGCCCGCCATGCCCATCGGCGCGTGCGACATCAATTTAACCCAACTATTGGTTTTGGGGTTGTATTTGTGTACGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGCCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAATGCAGCTAACGCTGTCCATTTTTTATCTTTGGCCTGTGTATCCAGCTTGTACCATGCCGTACCTGCG > NC_000913/4538369‑4538625 | tCACATGGCCCGCCATGCCCATCGGCGCGTGCGACATCAATTTAACCCAACTATTGGTTTTGGGGTTGTATTTGTGTACGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCaa‑‑a < 2:152772/130‑1 (MQ=255) tCACATGGCCCGCCATGCCCATCGGCGCGTGCGACATCAATTTAACCCAACTATTGGTTTTGGGGTTGTATTTGTGTACGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCaa‑‑a > 1:152772/1‑130 (MQ=255) tCACATGGCCCGCCATGCCCATCGGCGCGTGCGACATCAATTTAACCCAACTATTGGTTTTGGGGTTGTATTTGTGTACGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAg > 1:84535/1‑139 (MQ=255) tCACATGGCCCGCCATGCCCATCGGCGCGTGCGACATCAATTTAACCCAACTATTGGTTTTGGGGTTGTATTTGTGTACGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAg > 1:521024/1‑139 (MQ=255) cccATCGGCGCGTGCGACATCAATTTAACCCAACTATTGGTTTTGGGGTTGTATTTGTGTACGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATg < 2:84535/139‑1 (MQ=255) cccATCGGCGCGTGCGACATCAATTTAACCCAACTATTGGTTTTGGGGTTGTATTTGTGTACGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATg < 2:521024/139‑1 (MQ=255) cATCGGCGCGTGCGACATCAATTTAACCCAACTATTGGTTTTGGGGTTGTATTTGTGTACGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCa < 1:62455/139‑1 (MQ=255) cgcgTGCGACATCAATTTAACCCAACTATTGGTTTTGGGGTTGTATTTGTGTACGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGtt > 2:286144/1‑139 (MQ=255) cgTGCGACATCAATTTAACCCAACTATTGGTTTTGGGGTTGTATTTGTGTACGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGc > 1:25108/1‑139 (MQ=255) cATCAATTTAACCCAACTATTGGTTTTGGGGTTGTATTTGTGTACGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGAtct > 2:544395/1‑139 (MQ=255) tttAACCCAACTATTGGTTTTGGGGTTGTATTTGTGTACGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGt < 2:25108/139‑1 (MQ=255) tttAACCCAACGATTGGTTTTGGGGTTGTATTTGTGTACGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGt < 2:454429/139‑1 (MQ=255) aCCCAACTATTGGTTTTGGGGTTGTATTTGTGTACGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTccc > 2:375371/1‑101 (MQ=255) aCCCAACTATTGGTTTTGGGGTTGTATTTGTGTACGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGcc < 1:375371/101‑1 (MQ=255) ggTTTTGGGGTTGTATTTGTGTACGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAATGCa > 2:430635/1‑139 (MQ=255) gTATTTGTGTACGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGa < 1:293002/73‑1 (MQ=255) gTATTTGTGTACGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGa > 2:293002/1‑73 (MQ=255) gtACGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAATGCAGCTAACGCTGTCCAtttttt > 2:302693/1‑139 (MQ=255) tACGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCtt < 2:484651/92‑1 (MQ=255) tACGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCtt > 1:484651/1‑92 (MQ=255) cGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAAt < 1:151868/113‑1 (MQ=255) cGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAAt > 2:151868/1‑113 (MQ=255) cGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAATGCAGCTAACGCTGTCCATTTTTTATc > 1:236737/1‑139 (MQ=255) cGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAATGCAGCTAACGCTGTCCATTTTTTATc > 2:470885/1‑139 (MQ=255) cGTCATTAAATACCTGAGTCAAGCACTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAATGCAGCTAACGCTGTCCATTTTTTATc > 2:65546/1‑139 (MQ=255) cGTCATTAAACACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGt > 2:170284/1‑85 (MQ=255) cGTCATTAAACACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGt < 1:170284/85‑1 (MQ=255) tAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAATGCAGCTAACGCTGTCCATTTTTTATCTTTGGc > 1:133094/1‑139 (MQ=255) cTGAGTCAAGCCCTCGCTGTTTTTGTCAATGTCGCCAA‑‑ACACATACAGATTGCAATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAATGCAGCTAACGCTGTCCATTTTTTATCttt < 2:421423/129‑1 (MQ=255) cTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAATGCAGCTAACGCTGTCCATTTTTTATCttt > 1:421423/1‑129 (MQ=255) cTGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAATGCAGCTAACGCTGTCCATTTTTTATCTTTGGCCTGTGTa < 1:544395/139‑1 (MQ=255) tGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAATGCAGCTAACGCTGTCCATTTTTTATCTTTGGCCTGTGTAt < 1:286144/139‑1 (MQ=255) tGAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAATGCAGCTAACGCTGTCCATTTTTTATCTTTGGCCTGTGTAt < 1:302693/139‑1 (MQ=255) gAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCa > 2:310317/1‑35 (MQ=255) gAGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCa < 1:310317/35‑1 (MQ=255) aGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAATGCAGCTAACGCTGTCCATTTTTTATCTTTGGCCTGTGTATcc > 1:544815/1‑139 (MQ=255) aGTCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTGGCTTGATCTCTTGGTCCGCCAGGGAATGCAGCTAACGCTGTCCATTTTTTATCTTTGGCCTGTGTATcc > 1:77080/1‑139 (MQ=255) tCAAGCCCTCGCTGTTTTTGCCAATGTCGCCAAACACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAATGCAGCTAACGCTGTCCATTTTTTATCTTTGGCCTGTGTATcc > 2:102219/1‑139 (MQ=255) cccTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAAt > 1:455554/1‑90 (MQ=255) cccTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAAt < 2:455554/90‑1 (MQ=255) ccTCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAATGCAGCTAACGCTGTCCATTTTTTATCTTTGGCCTGTGTATCCAGCTTGTa < 2:133094/139‑1 (MQ=255) tCGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAATGCAGCTAACGCTGTCCATTTTTTATCTTTGGCCTGTGTATCCAGCTTGTAcc > 2:141564/1‑139 (MQ=255) cGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGt > 2:462374/1‑74 (MQ=255) cGCTGTTTTTGCCAATGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGt < 1:462374/74‑1 (MQ=255) tttGCCAATGTCGCCAAACACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAATGCAGCTAACGCTGTCCATTTTTTATCTTTGGCCTGTGTATCCAGCTTGTACCATGCCg < 1:102219/139‑1 (MQ=255) aaTGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAATGCAGCTAACGCTGTCCATTTTTTATCTTTGGCCTGTGTATCCAGCTTGTACCATGCCGTACCTgcg < 2:544815/139‑1 (MQ=255) aaTGTCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAATGCAGCTAACGCTGTCCATTTTTTATCTTTGGCCTGTGTATCCAGCTTGTACCATGCCGTACCTgcg < 1:141564/139‑1 (MQ=255) | TCACATGGCCCGCCATGCCCATCGGCGCGTGCGACATCAATTTAACCCAACTATTGGTTTTGGGGTTGTATTTGTGTACGTCATTAAATACCTGAGTCAAGCCCTCGCTGTTTTTGCCAATGCCGCCAA‑‑ACACATACAGATTGCCATCAATAAATGCAGAGGTTGCTTGATCTCTTGGTCCGCCAGGGAATGCAGCTAACGCTGTCCATTTTTTATCTTTGGCCTGTGTATCCAGCTTGTACCATGCCGTACCTGCG > NC_000913/4538369‑4538625 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 16 ≤ ATCG/ATCG < 34 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |