| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| JC | NC_000913_3_hsa_tpiA | 1,726,433 | Δ11 bp | 19.5% | coding (411‑421/600 nt) | nemR → | transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated |
| New junction evidence | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | reads (cov) | reads (cov) | score | skew | freq | annotation | gene | product | ||
| * | ? | NC_000913_3_hsa_tpiA | = 1726432 | 33 (0.580) | 8 (0.140) | 8/278 | NT | 19.5% | coding (410/600 nt) | nemR | transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated |
| ? | NC_000913_3_hsa_tpiA | 1726444 = | 33 (0.580) | coding (422/600 nt) | nemR | transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated | |||||
GCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAA > NC_000913_3_hsa_tpiA/1726295‑1726593 | gCAAACACTGAACCAGTGTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCt < 2:24689/150‑1 (MQ=255) aaCACTGAACCAGTTTTGCCAACATGGCACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGGTCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGa > 4:109720/1‑150 (MQ=255) taccagcaaacactgaaccagttttgccaacatggaaccatcagtggttgcctgacagtaaaactctctgccgaagtgtgcgatctgtcagaagatatgcgcagcgcgatggataaaggtgctcgcggcgagatcgccctgctTGGaaaa > 2:582732‑M2/144‑150 (MQ=255) acTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGaaaa > 2:379551/1‑150 (MQ=255) cAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGt > 3:308467/1‑150 (MQ=255) tgaaccagttttgccaacatggaaccatcagtggttgcctgacagtaaaactctctgccgaagtgtgcgatctgtcagaagatatgcgcagcgcgatggataaaggtgctcgcggcgtgatcgccctgctTGGAAAATGGCCGTGAGAAc < 2:188426‑M2/20‑1 (MQ=255) tgttttaccatcatggcaccatcagtggttgcctgacagtcaacctctctgccgaagtgtgcgatctgtcagaagatatgcgcagcgcgatggataaaggtgctagcggcgtgctcgccctgctTGGAAAATGGCCGTGAGAACCATTGt < 4:81744‑M2/26‑1 (MQ=255) ccATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCt < 2:340876/150‑1 (MQ=255) aacatggaagcatcagtggttgcctgacagtaaaactctctgccgaagtgtgcgatctgtcagaagatatgcgcagcgcgatggataaaggtgctcgcggcgtgatcgccctgctTGGAAAATGGCCGTGAGAACCATTGTTTAACCttt > 1:397023‑M2/116‑150 (MQ=255) tCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCtttt < 3:29585/150‑1 (MQ=255) tCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCtttt < 2:22223/150‑1 (MQ=255) tCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCtttt < 2:7096/150‑1 (MQ=255) aGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTtgt < 2:502646/150‑1 (MQ=255) tGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTTCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTgg < 2:266779/150‑1 (MQ=255) tGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGAGCACGCCGCGTGCTGGCACTGCTCTCTATGACGCTGGAAAATGGCCGTGGGAGCCATTGTTTGACCgtgtgttg < 2:344340/150‑3 (MQ=255) aaccatcagtggttgcctgacagtaaaactctctgccgaagtgtgcgatctgtcagaagatatgcgcagcgcgatggataaaggtgctcgcggcgtgatcgccctgctTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCg < 2:348115‑M2/42‑1 (MQ=255) tGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGc > 4:229327/1‑150 (MQ=255) tAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCaaa > 2:352480/1‑149 (MQ=255) tAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAAc > 1:555679/1‑150 (MQ=255) ctctctGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTATCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGca > 3:167859/1‑150 (MQ=255) caggaaaactctctgccgaagggtgcgatctgtcagaagatatgcgcagcgcgatggatagaggtgctcgcggcgtgatcgccctgctTGGAAAATGGCCGTGAGAGCCTTTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACaa < 1:379765‑M2/62‑1 (MQ=255) tGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGt > 3:246117/1‑150 (MQ=255) gAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCtt < 3:188876/150‑1 (MQ=255) tgCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCa > 1:276948/1‑150 (MQ=255) cGATCTGTCAGCAGATATGCGGAGCGAGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACt < 2:314382/150‑1 (MQ=255) cGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACt < 4:310239/150‑1 (MQ=255) cGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACt < 2:192695/150‑1 (MQ=255) ccgaagtgtgcgatctgtcagaagatatgcgcagcgcgatggataaaggtgctcgcggcgtgatcgccctgctTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACtg < 4:142749‑M2/77‑1 (MQ=255) gaagaTATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGgc < 3:372186/150‑1 (MQ=255) gcAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGc > 4:329065/1‑150 (MQ=255) gcgcGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCGGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAGCCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAgg < 2:396599/150‑1 (MQ=255) aTAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAAttt > 3:376457/1‑150 (MQ=255) aaGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTcgc > 3:274848/1‑150 (MQ=255) tCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGttt > 4:204277/1‑150 (MQ=255) tCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTCGCGCGAACCCCCAGGCCAAAATTCCGCGCAgctc > 4:23469/1‑147 (MQ=255) gcgAGATCGCCCTGCTCTCCCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGCATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGc > 4:211924/1‑150 (MQ=255) aggtgctcgcggcgtgatcgccctgctTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGc > 4:173878‑M2/28‑150 (MQ=255) gTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCa < 3:109720/150‑1 (MQ=255) tGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCACTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCAc > 1:126116/1‑150 (MQ=255) ctcAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTgg < 1:379551/150‑1 (MQ=255) tcAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAATGGCCATATGCGCTATGGCCGGTCTCGGATCTTTAGACCAAAATATCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGc > 3:129673/1‑150 (MQ=255) tcAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGc > 1:266017/1‑150 (MQ=255) aGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGccc < 1:574590/150‑1 (MQ=255) tGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTaa < 1:433416/150‑1 (MQ=255) | GCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAA > NC_000913_3_hsa_tpiA/1726295‑1726593 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |
| Reads not counted as support for junction |
| read_name Not counted due to insufficient overlap past the breakpoint. |
| read_name Not counted due to not crossing MOB target site duplication. |