| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 1,726,530 | G→C | A170P (GCG→CCG) | nemR → | transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 1,726,530 | 0 | G | C | 100.0% | 215.8 / NA | 62 | A170P (GCG→CCG) | nemR | transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated |
| Reads supporting (aligned to +/- strand): ref base G (0/0); new base C (32/30); total (32/30) | |||||||||||
ATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGCCTTTATGTCATCTGAAAAACT > NC_000913_3_hsa_tpiA/1726384‑1726675 | atatGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGa > 2:1057014/1‑150 (MQ=255) gcgcAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCt < 2:77578/150‑1 (MQ=255) gcgcGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAgg < 2:966307/150‑1 (MQ=255) cgcgATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGc < 3:500462/150‑1 (MQ=255) aTAAAGGTGCTCGGGGCGTGGTCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAAttt < 2:1297938/150‑1 (MQ=255) tAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAANTGCNTTACGCACTGTGGCTNGGCCCGAATCTGCAGGCCAAAATTTc < 1:932360/150‑1 (MQ=255) tAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTc < 4:714952/150‑1 (MQ=255) aaGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTcgc > 1:1314994/1‑150 (MQ=255) ccTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGaaaa > 3:412591/1‑150 (MQ=255) cTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAAc < 1:532855/150‑1 (MQ=255) cTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAAc < 1:532920/150‑1 (MQ=255) tctctcAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAg > 3:530777/1‑110 (MQ=255) tctctcAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAg < 4:530777/110‑1 (MQ=255) tctcAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTg > 2:871788/1‑150 (MQ=255) aGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGccc > 1:812866/1‑150 (MQ=255) ggCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCa < 3:73734/150‑1 (MQ=255) tGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGCACCGCTGCAACAGGCACAAGAGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTaa > 2:132293/1‑150 (MQ=255) tGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTaa > 2:1088323/1‑150 (MQ=255) tGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTaa > 2:1088334/1‑150 (MQ=255) aaaaTGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTaaaaa > 2:867070/1‑150 (MQ=255) aaTGGCCTTGAGAACCATTGCTAAACCTGTGGTGGCGAACCGCGGCAACAGGCTCAAGTGCCTTACCCACCGTGCCATGGCCCGAAGCAGCAGGCCAAAATTTCGCGCAGTTGCGAGCCTCTGGAAAACGCGCTGGCCCATGTAAAAAAc < 2:1236341/150‑1 (MQ=255) gagaACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCg > 2:587596/1‑150 (MQ=255) ccTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGc > 1:379658/1‑150 (MQ=255) ccTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGACCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGc < 2:868206/150‑1 (MQ=255) cTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTc > 1:1344003/1‑78 (MQ=255) cTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTc < 2:1344003/78‑1 (MQ=255) ttttGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAg > 4:90489/1‑150 (MQ=255) tgGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCAtt > 2:236676/1‑150 (MQ=255) gCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCAtttt > 2:365154/1‑150 (MQ=255) cGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCAttttt < 3:643839/150‑1 (MQ=255) cTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCAcc < 2:1200062/150‑1 (MQ=255) cAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAga < 3:233053/150‑1 (MQ=255) cAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAga > 1:1122901/1‑150 (MQ=255) aaCAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAgac > 2:143226/1‑150 (MQ=255) aGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAgacgac > 3:554898/1‑150 (MQ=255) acaAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCggg > 1:1007724/1‑150 (MQ=255) caAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAACTTTCGCGAAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGa < 1:1077704/150‑1 (MQ=255) aaGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTa > 1:679541/1‑89 (MQ=255) aaGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTa < 2:679541/89‑1 (MQ=255) aaGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAg > 4:24348/1‑150 (MQ=255) aGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGc < 1:1010653/150‑1 (MQ=255) gTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGcc > 1:1111023/1‑150 (MQ=255) tGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGCCt > 1:650834/1‑150 (MQ=255) gCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGCCtt < 3:90489/150‑1 (MQ=255) gCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGCCtt < 1:871788/150‑1 (MQ=255) gCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGCCtt > 4:427331/1‑150 (MQ=255) cTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGCCttt < 2:146159/150‑1 (MQ=255) tttACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGCCTTTa > 2:917773/1‑150 (MQ=255) ttACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGCCTTTAt < 1:365154/150‑1 (MQ=255) ttACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGCCTTTAt < 4:575699/150‑1 (MQ=255) ttACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGCCTTTAt < 1:100826/150‑1 (MQ=255) tACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCgg < 2:614693/139‑1 (MQ=255) tACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCgg > 1:614693/1‑139 (MQ=255) aCGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGCCTTTATGt > 4:594683/1‑150 (MQ=255) cGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCTGGAGCCTTTATGTc > 2:723734/1‑150 (MQ=255) gCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCAc > 3:482312/1‑55 (MQ=255) gCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCAc < 4:482312/55‑1 (MQ=255) tgGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGCCTTTATGTCATCTGaa > 1:586570/1‑150 (MQ=255) ggCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGCCTTTATGTCATCTGaaa < 2:1314994/150‑1 (MQ=255) ttGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGCCTTTATGTCATCTGAAAAAc > 1:1100899/1‑150 (MQ=255) tGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGCCTTTATGTCATCTGAAAAACt < 3:688823/150‑1 (MQ=255) tGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGCCTTTATGTCATCTGAAAAACt < 1:1339321/150‑1 (MQ=255) | ATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGCCTTTATGTCATCTGAAAAACT > NC_000913_3_hsa_tpiA/1726384‑1726675 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |