Predicted mutation | ||||||
---|---|---|---|---|---|---|
evidence | seq id | position | mutation | annotation | gene | description |
JC | NC_000913 | 4,157,959 | Δ103 bp | coding (1110‑1212/1374 nt) | argH → | argininosuccinate lyase |
New junction evidence | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
seq id | position | reads (cov) | reads (cov) | score | skew | freq | annotation | gene | product | ||
* | ? | NC_000913 | = 4157958 | 4 (0.070) | 46 (0.810) | 37/272 | 0.4 | 93.9% | coding (1109/1374 nt) | argH | argininosuccinate lyase |
? | NC_000913 | 4158062 = | 2 (0.040) | coding (1213/1374 nt) | argH | argininosuccinate lyase |
GCGGCTCAGCAGGGTTACGCCAACGCCACCGAACTGGCGGATTATCTGGTGGCGAAAGGCGTACCGTTCCGCGAGGCGCACCATATTGTTGGTGAAGCGGTGGTGGAAGCCATTCGTCAGGGCAAACCGCTGGAAGATCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGCCTCGACAAGCGTGCGGCAAAAGGCGGCGTCTCACCGCAGCAGGTGGCGCAGGCGA > NC_000913/4157924‑4158194 | caaagaaggtctgttcgacgcgctcgatacctggctggactgcctgcatatggcggcgctggtgctggacggcattcaggtgaaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactct < 1:920379‑M2/2‑1 (MQ=255) cGGCTCAGCAGGGTTACGCCAACGCCACCGAACTGGCGGATTATCTGGTGGCGAAAGGCGTACCGTTCCGCGAGGCGCACCATATTGTTGGTGAAGCGGTGGTGGAAGCCATTCGTCAGGGCAAACCGCTGGAAGATCTg < 1:736496/140‑1 (MQ=255) cGGCTCAGCAGGGTTACGCCAACGCCACCGAACTGGCGGATTATCTGGTGGCGAAAGGCGTACCGTTCCGCGAGGCGCACCATATTGTTGGTGAAGCGGTGGTGGAAGCCATTCGTCAGGGCAAACCGCTGGAAGATCTg < 1:736497/140‑1 (MQ=255) agaaggtctgttcgacgcgctcgatacctggctggactgcctgcatatggcggcgctggtgctggacggcattcaggtgaaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGcc < 2:95554‑M2/5‑1 (MQ=255) tgttcgacgcgctcgatacctggctggactgcctgcatatggcggcgctggtgctggacggcattcaggtgaaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTg > 2:755272‑M2/128‑140 (MQ=255) ttcgacgcgctcgatacctggctggactgcctgcatatggcggcgctggtgctggacggcattcaggtgaaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAg > 2:371912‑M2/126‑140 (MQ=255) cgcgctcgatacctggctggactgcctgcatatggcggcgctggtgctggacggcattcaggtgaaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCa < 1:710531‑M2/20‑1 (MQ=255) gctggactgcctgcatatggcggcgctggtgctggacggcattcaggtgaaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGt > 2:450886‑M2/106‑140 (MQ=255) tgtcttcctgcatatggcggcgctggtgctggacggcattcaggtgaaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGAt < 1:965899‑M2/38‑1 (MQ=255) gactgcctgcatatggcggcgctggtgctggacggcattcaggtgaaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTg < 1:642367‑M2/36‑1 (MQ=255) gactgcctgcatatggcggcgctggtgctggacggcattcaggtgaaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTg > 2:642367‑M2/102‑137 (MQ=255) cctgcatatggcggcgctggtgctggacggcattcaggtgaaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGa > 1:89444‑M2/97‑140 (MQ=255) cctgcatatggcggcgctggtgctggacggcattcaggtgaaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGa > 1:730544‑M2/97‑140 (MQ=255) tgcatatggcggcgctggtgctggacggcattcaggtgaaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAg > 1:590225‑M2/95‑140 (MQ=255) tgcatatggcggcgctggtgctggacggcattcaggtgaaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAg < 2:58551‑M2/46‑1 (MQ=255) tatggcggcgctggtgctggacggcattcaggtgaaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGt > 2:443739‑M2/91‑140 (MQ=255) cggcgctggtgctggacggcattcaggtgaaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATc > 2:700804‑M2/86‑140 (MQ=255) cgctggtgctggacggcattcaggtgaaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGa > 1:896224‑M2/83‑140 (MQ=255) ggtgctggacggcattcaggtgaaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCt < 1:373663‑M2/62‑1 (MQ=255) gtgctggacggcattcaggtgaaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTg > 1:904322‑M2/78‑140 (MQ=255) ggacggcattcaggtgaaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCt > 2:564024‑M2/73‑140 (MQ=255) cggcattcaggtgaaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCa > 2:25828‑M2/70‑140 (MQ=255) gcattcaggtgaaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAAt > 2:65536‑M2/68‑140 (MQ=255) caggtgaaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGc < 2:904322‑M2/78‑1 (MQ=255) aggtgaaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGcc > 1:274772‑M2/62‑140 (MQ=255) aaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGc > 1:242502‑M2/57‑134 (MQ=255) aaacgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGc < 2:242502‑M2/78‑1 (MQ=255) acgtccacgttgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGCCTCGACaa < 1:443739‑M2/86‑1 (MQ=255) tgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGCCTCGACAAGCGTg < 1:394845‑M2/91‑1 (MQ=255) tgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGCCTCGACAAGCGTGCGGCa < 1:700804‑M2/96‑1 (MQ=255) tgccaggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGAGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGCCTCGACAAGCGTg > 2:394845‑M2/45‑135 (MQ=255) caggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGCCTCGACaa < 2:930758‑M2/86‑1 (MQ=255) caggaagcggctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGCCTCGACaa > 1:930758‑M2/42‑127 (MQ=255) cggctcagcagggttacgccaacgccaccgaactTTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGCCTCGACAAGCGTGCGGCAAAAGgcggcg > 2:556447‑M2/35‑140 (MQ=255) gctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGCCTCGACAAGCGTGCGGCAAAAGGCGGCGtc > 1:512009‑M2/33‑140 (MQ=255) gctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGCCTCGACAAGCGTGCGGCAAAAGGCGGCGtc > 1:644672‑M2/33‑140 (MQ=255) gctcagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGCCTCGACAAGCGTGCGGCAAAAGGCGGCGtc > 1:88349‑M2/33‑140 (MQ=255) cagcagggttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGCCTCGACAAGCGTGCGGCAAAAGGCGGCGTCTCa < 1:450886‑M2/111‑1 (MQ=255) ttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGCCTCGACAAGCGTGCGGCAAAAGGCGGCGTCTCACCgcagca > 1:585300‑M2/22‑140 (MQ=255) ttacgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGCCTCGACAAGCGTGCGGCAAAAGGCGGCGTCTCACCgcagca > 1:166695‑M2/22‑140 (MQ=255) acgccaacgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGCCTCGACAAGCGTGCGGCAAAAGGCGGCGTCTCACCGCAGCAgg < 2:89444‑M2/121‑1 (MQ=255) acgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGCCTCGACAAGCGTGCGGCAAAAGGCGGCGTCTCACCGCAGCAGGTGgcgc > 2:246059‑M2/14‑140 (MQ=255) acgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGCCTCGACAAGCGTGCGGCAAAAGGCGGCGTCTCACCGCAGCAGGTGgcgc < 2:166695‑M2/127‑1 (MQ=255) acgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGCCTCGACAAGCGTGCGGCAAAAGGCGGCGTCTCACCGCAGCAGGTGgcgc > 1:370002‑M2/14‑140 (MQ=255) cgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGCCTCGACAAGCGTGCGGCAAAAGGCGGCGTCTCACCGCAGCAGGTGGCGCa > 1:378197‑M2/13‑140 (MQ=255) cgccaccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGCCTCGACAAGCGTGCGGCAAAAGGCGGCGTCTCACCGCAGCAGGTGGCGCa > 1:660985‑M2/13‑140 (MQ=255) ccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGCCTCGACAAGCGTGCGGCAAAAGGCGGCGTCTCACCGCAGCAGGTGGCGCAGGCGa > 1:886187‑M2/8‑140 (MQ=255) ccgaactCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGCCTCGACAAGCGTGCGGCAAAAGGCGGCGTCTCACCGCAGCAGGTGGCGCAGGCGa > 1:753824‑M2/8‑140 (MQ=255) | GCGGCTCAGCAGGGTTACGCCAACGCCACCGAACTGGCGGATTATCTGGTGGCGAAAGGCGTACCGTTCCGCGAGGCGCACCATATTGTTGGTGAAGCGGTGGTGGAAGCCATTCGTCAGGGCAAACCGCTGGAAGATCTGCCGCTCAGTGAGTTGCAGAAATTCAGTCAGGTGATTGACGAAGATGTCTATCCGATTCTGTCGCTGCAATCGTGCCTCGACAAGCGTGCGGCAAAAGGCGGCGTCTCACCGCAGCAGGTGGCGCAGGCGA > NC_000913/4157924‑4158194 |
Alignment Legend |
---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 33 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 40 ≤ 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. |