Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 4,002,902 | A→T | 6.4% | S98T (TCA→ACA) | yigG ← | PRK11371 family inner membrane 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 | 4,002,902 | 0 | A | T | 6.4% | 177.8 / 4.9 | 63 | S98T (TCA→ACA) | yigG | PRK11371 family inner membrane protein |
Reads supporting (aligned to +/- strand): ref base A (28/31); new base T (2/2); total (30/33) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 2.60e-01 |
TCCATTTTTCACTTAATGAACCATCGTTCATATATTCCTTACTCATAAATACTCCATAACTATTGTTTTGATGAATCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGAAACCACTATCACGGAGTCGCTGGCAATTCATGTTGATGACGAGATAATGGAGTACGATGGTA > NC_000913_3_hsa_tpiA/4002754‑4003050 | tCCATTTTTCACTTAATGAACCATCGTTCATATATTCCTTACTCATAAATACTCCATAACTATTGTTTTGATGAATCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCAAACCATTTCCTGa > 2:233401/1‑149 (MQ=255) aTTTTTCACTTAGTGAACCATCGTTCATATATTCCTTACTCATAAATACTCCATAACTATTGTTTTGATGAATCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACa > 2:376357/1‑149 (MQ=255) aTGAACCATCGTTCATATATTCCTTACTCATAAATACTCCATAACTATTGTTTTGATGAATCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTc > 2:531070/1‑149 (MQ=255) tGAACCATCGTTCATATATTCCTTACTCATAAATACTCCATAACTATTGTTTTGATGAATCAGTAGGTGCAAGCATTAGCATACTAAAAGTGGAAAAATACCAAGTCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCg < 1:170905/149‑1 (MQ=255) aaCCATCGTTCATATATTCCTTACTCATAAATACTCCATAACTATTGTTTTGATGAATCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTTCCTTAGCAGGCAAAAACTTCCGc > 2:620103/1‑149 (MQ=255) gTTCATATATTCCTTACTCATAAATACTCCATAACTATTGTTTTGATGAATCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCAtt < 1:531070/149‑1 (MQ=255) atatatTCCTTACTCATAAATACTCCATAACTATTGTTTTGATGAATAAGTAGGTGCAAGCATTAGCATCCTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCATGAACAGGCAAAATATTCGGCAATCATTGtga > 1:257341/1‑149 (MQ=255) atatatTCCGTAGTCATAAATCCTTCATAACTATTGGTTTGATGAATCAGTAGGTGCAAGCATTAGCAGACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGtga < 2:648762/149‑1 (MQ=255) tatatTCCTTACTCATAAATACTCCATAACTATTGTTTTGATGAATCAGTAGATGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGtgat > 1:505322/1‑149 (MQ=255) ttCCTTACTCATAAATACTCCATAACTATTGTTTTGATGAATCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAAGCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATa < 2:445974/149‑1 (MQ=255) cTTACTCATAAATACTCCATAACTATTGTTTTGATGGATCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCAGCTATCATTGTGATGATagaa > 2:702901/1‑148 (MQ=255) cTTACTCATAAATACTCCATAACTATTGTTTTGATGAATCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATagca > 1:155779/1‑147 (MQ=255) ttACTCATAAATACTCCATAACTATTGTTTTGATGAATCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAgaga < 2:586773/149‑1 (MQ=255) ttACTCATAAATACTCCATAACTATTGTTTTGATGAATCAGTAGGAGAAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTAGCATTGTGATGATaacaa > 2:636643/1‑145 (MQ=255) tCATAAATACTCCATAACTATTGTTTTGATGAATCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAACTCTTCGGCAATCATTGTGATAATAGAgatgat > 1:276860/1‑149 (MQ=255) aTAAATACTCCATAACTATTGTTTTGATGAATCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAACCTTCGGCTATCATTGTGATGGTAGAGCTGatat > 1:33847/1‑149 (MQ=255) aCTCCATAACTATTGTTTTGATGAATCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTg < 1:433638/149‑1 (MQ=255) cTCCCTAACTATTGTTTGGATGAATCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGTTAGAGATGATATATACTGc < 2:179562/149‑1 (MQ=255) aTAACTATTGTTTTGATGAATCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGc < 1:151104/145‑1 (MQ=255) aTAACTATTGTTTTGATGAATCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGc > 2:151104/1‑145 (MQ=255) tATTGTTTTGATGAATCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTAcc > 2:686086/1‑149 (MQ=255) tATTGTTTTGATGAATCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGCCTATCATTGTGATGATACAGAGGATATATACTGATACAGTAca > 1:663236/1‑148 (MQ=255) tATTGTTTTGATGAATCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAAAAGGCAATACCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTAcc > 1:461188/1‑149 (MQ=255) tATTGTTTTGATGAATCAGTAGGTGCAAGCATTAGCATACTGAAAGCGGAAAAATAACAAATCAAAAAAATCCTCGAACCATTGCCTGAACAGGCAAAACCTTCGGCTATCATTCTGATACTAGAAGTGATATATACTGCTAATGTAcc > 2:640192/1‑149 (MQ=255) ttttGATGAATCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCaaaaa < 1:79088/149‑1 (MQ=255) tgctgaAACAGTAGCAGCACGCGTGAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACAt < 2:215771/146‑1 (MQ=255) tgatgaATCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACAt < 1:449615/149‑1 (MQ=255) atgaATCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATaa < 1:13269/149‑1 (MQ=255) aTCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGttt < 1:189594/149‑1 (MQ=255) gTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGCTAGAGCTGATATTTACTGCTAATGTACCAAAAACATAAGTTTTtat > 1:133964/1‑149 (MQ=255) ggTGCAAACATGAGGATAGTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTtatata < 2:723627/149‑1 (MQ=255) tGCAAGCATTAGCATACTGAAAGTGGCAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATAATTGAGAGGATATATACTGCTAATGTACC‑AAAACATAAGTTTTTATATAGAt > 1:683767/1‑149 (MQ=255) tGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGa > 1:326953/1‑149 (MQ=255) gcaagcaaTAGCAAACTGAAAGTGGAAAAATAAAAAAACAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGAt < 2:79796/149‑1 (MQ=255) aaGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTATGATGATAAGGATGATTTATGCTGCTAATGTACCAAAAGCATAAGTTTTTATAGAGAtag > 2:689738/1‑147 (MQ=255) gCATTAGCATACTGGAAGTGGAAAAATAACAAATTAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGaaa < 1:560464/149‑1 (MQ=255) gCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGaaa < 1:129236/149‑1 (MQ=255) caaTTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGaaa < 1:195955/147‑1 (MQ=255) aTTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGAAAcc < 1:291711/149‑1 (MQ=255) cTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGAAACCACTATCACg < 1:38397/149‑1 (MQ=255) ataaaaGTGAAAAAAAAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATTATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGAAACCACTATCACg < 2:722013/146‑1 (MQ=255) aaaGTAGAAAAAAAAAAAAACAAAAAAATCAGCGAACCATTGCCTTAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATCCTGCTACTCTACCAAAAACATAAGTTTTTATATAGATGAAACCACTATCACGGAg < 2:366908/149‑1 (MQ=255) aaGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAGGTTTTTATATAGATGAAACCACTATCACGGAGt > 1:72877/1‑149 (MQ=255) gAAAAATAACAAATCAAAAAAATCATCGATCCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGAAACCACTATCACGGAGTCGCTg < 1:624286/149‑1 (MQ=255) gAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGAAACCACTATCACGGAGTCGCTg > 2:579643/1‑149 (MQ=255) gAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGAAACCACTATCACGCAGTCGccg > 2:685824/1‑147 (MQ=255) aTAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGAAACCACTATCACGGAGTCGCTGTCAAt > 1:642797/1‑149 (MQ=255) tAAAAAATAAAGAAAATCAACTAACCATTGCATGAACAGGCAAAATCTTCGGCTACCATTGTGATGATTGAGAAGATAAATACTACTAATGTAATAAAAACAGAAGTATATACATAGATGAAACAAGAAGCACGGAGTCTCTGGCAAtt < 2:326907/149‑1 (MQ=255) tCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATCAGTTTGTATCTCGATGCAACCACTATCTAGGAGTCGCTGGCAATTCATGTtg > 1:97248/1‑149 (MQ=255) tCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGAAACCACTATCACGGAGTCGCTGGCAATTCATGTtg > 2:416478/1‑149 (MQ=255) tCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGAAACCACTATCACCGAGTCGCTGGCAATTCATGTtg > 2:445070/1‑149 (MQ=255) cAAAAAAATCATCGAACCATTGCTTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGAAACCACTATCACGGAGTCGCTGGCAATTCATGTtga < 1:317718/149‑1 (MQ=255) aaaaaaTCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACCTAAGTTTTTATATATATTAAACCACTATCACGGAGTCGCTGGCAATTCATGTtgatg > 2:663667/1‑149 (MQ=255) aaaaaaTCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGAAACCACTATCACGGAGTCGCTGGCAATTCCTGTtgatg > 1:33835/1‑149 (MQ=255) aaTCATCGAACCATTGCCTGAACAGACAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGAAACCACTATCACGGAGTCGCTGGCAATTCATGTTGATGACga < 2:193174/149‑1 (MQ=255) aaTCATCGAACCATTGCCTGAACAAGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGAAACCACTATCACGGAGTCGCTGGCAATTCATGTTGATGACga < 2:588372/149‑1 (MQ=255) taaCCATGGCATGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGAAACCACTATCACGGAGTCGCTGGCAATTCATGTTGATGACGAGATAATg < 2:478530/148‑1 (MQ=255) gAACCATGGCCTGAAAAGGCAAAATATTCGGCTAACATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGAAACCACTATCATGGAATTGCTGGCAATTCATGTTGATGACGAGATAATg < 2:155779/149‑1 (MQ=255) aCCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGAAACCACTATCACGGAGTCGCTGGCAATTCATGTTGATGACGAGATAATGGa < 1:653596/149‑1 (MQ=255) ttttGCCTGTTCAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGAAACCACTATCAc < 1:44714/106‑1 (MQ=255) ttttGCCTGTTCAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGAAACCACTATCAc < 1:44359/106‑1 (MQ=255) ttttGCCTGTTCAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGAAACCACTATCAc > 2:44714/3‑108 (MQ=255) ttttGCCTGTTCAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGAAACCACTATCAc > 2:44359/3‑108 (MQ=255) ccTGAACAAGGAAAATCTGTGGGTATCATTTTGATGATAGAGATTATATATACTGCTAATGTACAAAACACATAAGTTGTTATATAGATGAAACCACTATCACGGAGTCTCTGGCAATTTATGTTGATGACGAGATAATGGAGTACGAt < 2:523714/149‑1 (MQ=255) aaCAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACAAAAGTTTTTAAATAGAAGAAACCACTATCACGGAGTCGCTGGCAATTCATGTTGATGACGAGATAATGGAGTACGATGGTa > 2:443288/1‑149 (MQ=255) | TCCATTTTTCACTTAATGAACCATCGTTCATATATTCCTTACTCATAAATACTCCATAACTATTGTTTTGATGAATCAGTAGGTGCAAGCATTAGCATACTGAAAGTGGAAAAATAACAAATCAAAAAAATCATCGAACCATTGCCTGAACAGGCAAAATCTTCGGCTATCATTGTGATGATAGAGATGATATATACTGCTAATGTACCAAAAACATAAGTTTTTATATAGATGAAACCACTATCACGGAGTCGCTGGCAATTCATGTTGATGACGAGATAATGGAGTACGATGGTA > NC_000913_3_hsa_tpiA/4002754‑4003050 |
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 < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |