Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 430,866 | G→A | 10.2% | A88T (GCA→ACA) | yajD → | HNH nuclease family protein |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_tpiA | 430,866 | 0 | G | A | 10.2% | 83.1 / 2.0 | 39 | A88T (GCA→ACA) | yajD | HNH nuclease family protein |
Reads supporting (aligned to +/- strand): ref base G (19/14); new base A (2/2); total (23/16) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 6.75e-01 |
GTGAACTTACCGTTCACCACATTGATCACGACCATACCAATAACCCGGAAGATGGCAGTAACTGGGAATTGTTGTGTCTCTATTGCCACGATCATGAGCATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACAACCCATTCGCTGACCTGAAAGCGATGATGAACAAGAAGAAGTGATTAAAACGTAAAATTGCCTGATGCGCTACGCTTATCAGGCCTACGTTATTTCAGC > NC_000913_3_hsa_tpiA/430723‑431007 | gTGAACTTACCGTTCACCACATTGATCACGACCATACCAATAACCCGGAAGATGGCAGTAACTGGGAATTGTTGTGTCTCTATTGCCACGATCATGAGCATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCGCAggg > 1:95041/1‑149 (MQ=255) ttACCGTTCACCACATTGATCACGACCATACCAATAACCCGGAAGCTGGCAATAACTGGGAATTGTTGTGTCTGTATTGCCACGATCATGAGCATTCGAAATATACCAAAGCGGATCAGAATAGTACGACCGTGATCTCAGGGGAAGAt > 1:727038/1‑149 (MQ=255) ccGTTCACCACATTGATCACGACCATACCAATAACCCGGAAGATGGCAGTAACTGGGAATTGTTGTGTCTCTATTGCCACGATCATGAGCATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATgcg > 2:591531/1‑149 (MQ=255) accacATTGATCACGACCATACCAATAACCCGGAAGATGGCAGTAACTGGGAATTGTTGTGTCTCTATTGCCACGATCATGAGCATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGaaa > 1:8152/1‑149 (MQ=255) caTTGATCACGACCGTACCAATAACCCGGAAGATGGCAGTAACTGGGAATTGTTGTGTCTCTATTGCCACGATCATGAGCATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATg > 2:566883/1‑149 (MQ=255) aTCACGACCATACCAATAACCCGGAAGATGGCAGTAACTGGGAATTGTTGTGTCTCTATTGCCACGATCATGAGCATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGt < 1:256664/149‑1 (MQ=255) aCGACCATACCAATAACCCGGAAGATGGCAGTAACTGGGAATTGTTGTGTCTCTATTGCCACGATCATGAGCATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCGCAGGGGGAGATGCGCAGAAAGATGTCGGTaaa > 1:693961/1‑149 (MQ=255) tACCAATAACCCGGAAGATGGCAGTAACTGGGAATTGTTGTGTCTCTATTGCCACGATCATGAGCATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGAAGAAAGATGTCGGTGAAGCGAAGt > 2:99207/1‑149 (MQ=255) aaTATCCCGGAAGATGGCAGTAACGGGGAAGTGTTGTGTCTCTATTGCCACGATCATGAGCATTCGAAATATACCGAAGCAAATAAGTATGCGACGAGCGTTAACAAATGGTAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACaa < 2:446055/149‑1 (MQ=255) aaTAACCCGGAAGATGGCAGTAACTGGGAATTGTTGTGTCTCTATTGCCACGATCATGAGCATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACaa > 1:15835/1‑149 (MQ=255) cGGAAGATGGCAGTAACTGGGAATTGTTGTGTCTCTATTGCCACGATCATGAGCATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCACAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGaa < 1:54398/136‑1 (MQ=255) cGGAAGATGGCAGTAACTGGGAATTGTTGTGTCTCTATTGCCACGATCATGAGCATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCACAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGaa > 2:54398/1‑136 (MQ=255) aTGGTAGTAACTGGCGATTGTTGGTGCTCTATTGCCAAGATCATGAGCATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACAACCCATTCGCTGAc < 2:627369/149‑1 (MQ=255) ggCAGTAAATGGGAATGGTTGTGACTCTATTGCCACGATCATGAGCATTCGAAATAGACCGGAGCTGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACAATCCATTCGCTGACCt < 2:166184/149‑1 (MQ=255) cTGGGAATTGTTGTGTCTCTATTGCCACGATCATGAGCATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACAACCCATTCGCTGACCTGAAAGCga < 1:566883/149‑1 (MQ=255) gggAATTGTTGTGTCTCTATTGCCACGATCATGAGCATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACAACCCATTCGCTGACCTGAAAGCgatg > 1:566258/1‑149 (MQ=255) tgAATTGTTGTGGTTCTATTACCACGATCATGAGAATCAGAAATATACCGAAGCGGGTCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACAACCCATTCGCTGACCTGAAAGCgatga < 2:473225/148‑1 (MQ=255) ggAATTGTTGTGTCTCTATTGCCACGATCATGAGCATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACAACCCATTCGCTGACCTGAAAGCgatga > 1:501212/1‑149 (MQ=255) ttgtGTCTCTATTGCCACGATCATGAGCATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACAACCCATTCGCTGACCTGAAAGCGATGATGAACaa < 1:27924/149‑1 (MQ=255) gtgtCTCTATTGCCACGATCATGAGCATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCTCAGAGGAAGATGCGGAGAAATATGTCGGCTAGTGGAAGTGCACCCCAATCGCTGACCTTACAGCGAcgaagacaacga > 2:260861/1‑143 (MQ=255) ctccATTGCCACGATCATGAGGATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGGACAACCCATTCGCTGACCTGAAAGCGATGATGAACaagaagaa < 2:330698/149‑1 (MQ=255) tctATTGCCACGATCATGAGCATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACAACCCATTCGCTGACCTGAAAGCGATGATGAACaagaagaag < 2:566258/149‑1 (MQ=255) tctATTGCCACAATCGTGAGCATTCGAAAGATACTGAAGTGGATCAGTATGGTACGACCGTTCTCGCAGGGGAAGATGCGCAGAAAGCTGTCGGTGAAGCGAAGTATAACCCATTCGCTGACCTGAAAGCGATGATGAACaagaagaag < 2:486505/149‑1 (MQ=255) ttGCCACGATCATGAGCATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACAACCCATTCGCTGACCTGAAAGCGATGATGAACAAGAAGAAGTGAt < 1:254308/149‑1 (MQ=255) ccACGATCATGAGCATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACAACCCATTCGCTGACCTGAAAGCGATGATGAACAAGAAGAAGTGATTaa > 1:312430/1‑149 (MQ=255) aCGAACATGAGCATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACAACCCATTCGCTGACCTGAAAGCGATGATGAACAAGAAGAAGTGAGTaaaa < 2:124304/149‑1 (MQ=255) aTGAGCATTCGAAATATACCGAAGCGGATCAGTAAGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACAACCCATTCGCTGACCTGAAAGCGATGATGAACAAGAAGAAGTGATTAAAACGTaaa > 1:538061/1‑149 (MQ=255) tGAGCATTCGAAATATACCGAAGCGGTTCAGTATGGTACAACCCTTTAAACAGGTGAAGATCTTTATATATATGTCGGTGAAGCGAAGAACAACCCATTCGCTGACCTGAAAGCGATGATGAACAGGAAGAAGTGATTAAAACGTaaaa > 1:352410/1‑149 (MQ=255) gCATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACAACCCATTCGCTGACCTGAAAGCGATGATGAACAAGAAGAAGTGATTAAAACGTAAAATTg > 2:134917/1‑149 (MQ=255) gAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATAGCAGGGGAAGATGCACAGAAAGATGTCGGTGAAGTGACGTACAACCCATTCGCTGTCCTGAAAGCGATGATGAAAAGGAAGAAGTCATAAAAACGTAAAATTGCATGAt > 2:35357/1‑149 (MQ=255) aaaTATACCGAAGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACAACCCATTCGCTGACCTGAAAGCGATGATGAACAAGAAGAAGTGATTAAAACGTAAAATTGCCTGATg > 2:409856/1‑149 (MQ=255) aaTAAACCTAAGCGGATCAGTATGGTACGACCGTGAACGCAGGGGAAGAGGCGCAGAAAGATGTCGGTGAAGCGAAGTACAACCCATTCGCTGACCTGAAAGCGATGATGAACAAGAAGAAGTGATTAAAACGTAAAATTGCCTGATgc < 1:234691/149‑1 (MQ=255) tataCCGAAGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACAACCCATTCGCTGACCTGAAAGCGATGATGAACAAGAAGAAGTGATTAAAACGTAAAATTGCCTGATgcgc < 2:312430/149‑1 (MQ=255) cGAAGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACAACCCATTCGCTGACCTGAAAGCGATGATGAACAAGAAGAAGTGATTAAAACGTAAAATTGCCTCAGGCGCTACGc > 1:648677/1‑149 (MQ=255) aaGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACAACCCATTCGCTGACCTGAAAGCGATGATGAACAAGAAGAAGTGATTAAAAc > 1:108759/1‑123 (MQ=255) aaGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACAACCCATTCGCTGACCTGAAAGCGATGATGAACAAGAAGAAGTGATTAAAAc < 2:108759/123‑1 (MQ=255) gATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACAACCCATTCGCTGACCTCAAAGCGATGATGAACAACGAGAAGTGATTAAAACACAAAATTGCCTGATGCCCTACGCTTATCAg > 2:78861/1‑149 (MQ=255) tACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACAACCCATTCGCTGACCTGAAAGCGATGATGAACAAGAAGAAGTGATTAAAACGTAAAATTGCCTGATGCGCTACGCTTATCAGGCCTACGttct > 1:306695/1‑147 (MQ=255) cGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGCAGTACAACCCATGCGCTGACCTGAAAGCAATGATGAACAAGAAGAAGTGATTAAAACGTAAAATTGCCTGATGCGCTACGCATATCACGCCTACCTCCTTTCAGc > 2:300870/1‑149 (MQ=255) | GTGAACTTACCGTTCACCACATTGATCACGACCATACCAATAACCCGGAAGATGGCAGTAACTGGGAATTGTTGTGTCTCTATTGCCACGATCATGAGCATTCGAAATATACCGAAGCGGATCAGTATGGTACGACCGTTATCGCAGGGGAAGATGCGCAGAAAGATGTCGGTGAAGCGAAGTACAACCCATTCGCTGACCTGAAAGCGATGATGAACAAGAAGAAGTGATTAAAACGTAAAATTGCCTGATGCGCTACGCTTATCAGGCCTACGTTATTTCAGC > NC_000913_3_hsa_tpiA/430723‑431007 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |