Predicted mutation | |||||||
---|---|---|---|---|---|---|---|
evidence | seq id | position | mutation | freq | annotation | gene | description |
JC | NC_000913_3_hsa_tpiA | 1,726,433 | Δ11 bp | 33.3% | 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 | 16 (0.460) | 8 (0.230) | 8/276 | NT | 33.3% | coding (410/600 nt) | nemR | transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated |
? | NC_000913_3_hsa_tpiA | 1726444 = | 16 (0.460) | coding (422/600 nt) | nemR | transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated |
TTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTA > NC_000913_3_hsa_tpiA/1726312‑1726592 | actgaaccagttttgccaacatggaaccatcagtggttgcctgacagtaaaactctctgccgaagtgtgcgatctgtcagaagatatgcgcagcgcgatggataaaggtgctcgcggcgtgatcgccctgctTGGAAAATGGCCGTgag > 1:553109‑M2/133‑149 (MQ=255) cagttttgccaacattgaacccttagtggttgcctgacagtaaaactctctgccgaagtgtgcgatctgtcagaagatatgcgcagcgcgatggataaaggtgctcgcggcgtgatcgccctgctTGGAAAATGGCCGTGAGAACCAtt < 2:85759‑M2/24‑1 (MQ=255) aTGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGACCCATGGt > 2:42843/1‑149 (MQ=255) aTCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGACCCATTCTTTAACCtt > 2:337791/1‑149 (MQ=255) tGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTtgtg > 1:191840/1‑149 (MQ=255) aGTAAAATTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGGAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCGCCCAGGCGCTGGAAAAGGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGc < 1:490658/149‑1 (MQ=255) gTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAAAAGATATGCGGAGGGCGAGCGATAAAGGTGCTCGCGGCGTGATCGGCCTGCTCTCTCAGGCGGTGGAAAATGGCCTTGCGAACCCTTGTATAACCTTTTGCGGCCAACCATTGCa > 2:323031/1‑149 (MQ=255) aaCTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCCGGCGACGGGAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAg < 1:517810/149‑1 (MQ=255) tctGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGcaca > 1:219105/1‑149 (MQ=255) tctGCCGAAGTGTGCGAACTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGcaca > 1:162055/1‑149 (MQ=255) agtaaaactctctgccgaagtgtgcgatctgtcagaagatatgcgcagcgcgatggataaaggtgctcgcggcgtgatcgccctgctTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACaa > 1:636481‑M2/88‑149 (MQ=255) taaaactctctgccgaagtgtgcgatctgtcagaagatatgcgcagcgcgatggataaaggtgctcgcggcgtgatcgccctgctTGGAACATGGCCGTGAGAACCATTGTTTAACCTTTTTTGGCGAACCTCTGCAACAGGCACAGGt > 1:448227‑M2/86‑149 (MQ=255) ccGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGATGCTCGCGGCGTGAGCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACAGCTGCAGCAGGCACAAggg > 1:580481/1‑147 (MQ=255) gccgaagtgtgcgatctgtcagaagatatgcgcagcgcgatggataaaggtgctcgcggcgtgatcgccctgctTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCAc < 1:610621‑M2/75‑1 (MQ=255) tcattagaTATTCGCAGCGCGATGGATAAAGGTGCGCGCAGCGTGGTCGCCCTGCTCTCGCAGGCGCTGGAAAATGGCCGTGGGAACCATTGTTTAACCTTCAGTAGCCAACCGCGGCAACAGGCACAAGTGCTTTACGCCCTGTGGCt > 2:300454/6‑149 (MQ=255) gaagaTATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTggg > 1:46147/1‑149 (MQ=255) tGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCaaa > 1:213188/1‑149 (MQ=255) cgcagcgcgatggataaaggtgctcgcggcgtgatcgccctgctTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCaaaa < 1:84395‑M2/105‑1 (MQ=255) aaGGTGCTCGCGGCGTGGTCGCCCTGCTCTCTCAGCTGCTGCAAAACGGCCGAGAGCAGGATTGTTTAACCTTTTGTGGCGAACCGCAGCAACCGGCGCAAGTCCTTTAATCACTTAGGATTGGCGCGAATCTGCAGGCCAACATTTcg > 2:436574/1‑149 (MQ=255) aaGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTcg > 1:255992/1‑149 (MQ=255) ggcggcaTCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGa < 1:2749/143‑1 (MQ=255) aaggtgttcgcggcgtgatcgccctgctTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGa < 1:143320‑M2/121‑1 (MQ=255) tcgcggcgtgatcgccctgctTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTg > 1:498757‑M2/22‑149 (MQ=255) ctctctCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCAAATCTGCAGGCCAAAATTTTGCGCAGTTTCGAGCCACTGGAAAAcac > 2:62798/1‑147 (MQ=255) ggCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGccc < 1:270159/149‑1 (MQ=255) tGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCAGAAGTGCTTTACGCTCTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTa > 2:437094/1‑149 (MQ=255) | TTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTA > NC_000913_3_hsa_tpiA/1726312‑1726592 |
Alignment Legend |
---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ 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. |