| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913 | 388,689 | A→G | intergenic (+43/+64) | tauD → / ← hemB | taurine dioxygenase/porphobilinogen synthase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913 | 388,689 | 0 | A | G | 94.4% | 50.9 / ‑3.7 | 18 | intergenic (+43/+64) | tauD/hemB | taurine dioxygenase/porphobilinogen synthase |
| Reads supporting (aligned to +/- strand): ref base A (1/0); new base G (10/7); total (11/7) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 5.89e-01 | |||||||||||
TGCCAATGCCGATTACCTGCCACAGCGACGGATAATGCATCGGGCGACGATCCTTGGGGATAAACCGTTTTATCGGGCGGGGTAATACGAGAGTGGACGGTCCCCTCGCCCCCTTGGGGAGAGGGTTAGGGTGAGGGGGCGTTCACCGTACTTTCAACAGGTTAACTCCCCCTTTCTGAGAGGAAACAAAATTAACGCAGAATCTTCTTCTCAGCCAAATCCAGCGCAAAGTAGCTGAAAATCAGATCCGCACCCGCACGC > NC_000913/388562‑388822 | tGCCAATGCCGATTACCTGCCACAGCGACGGATAATGCATCGGGCGACGATCCTTGGGGATAAACCGTTTTATCGGGCGGGGTAATACGAGAGTGGACGGTCCCCTCGCCCCCTTGGGGAGAGGGTTGGGGTGAGGGGGc > 1:609315/1‑140 (MQ=255) aTGCCGATTACCTGCCACAGCGACGGATAATGCATCGGGCGACGATCCTTGGGGATAAACCGTTTTATCGGGCGGGGTAATACGAGAGTGGACGGTCCCCTCGCCCCCTTGGGGAGAGGGTTGGGGTGAGGGGGCGTTCa > 2:104775/1‑140 (MQ=255) cGACGGATAATGCATCGGGCGACGATCCTTGGGGATAAACCGTTTTATCGGGCGGGGTAATACGAGAGTGGACGGTCCCCTCGCCCCCTTGGGGAGAGGGTTAGGGTGAGGGGGCGTTCACCGTACTTTCAAcctgtctc > 1:383389/1‑133 (MQ=255) tGCATCGGGCGACGATCCTTGGGGATAAACCGTTTTATCGGGCGGGGTAATACGAGAGTGGACGGTCCCCTCGCCCCCTTGGGGAGAGGGTTGGGGTGAGGGGGCGTTCACCGTACTTTCAACAGGTTAACTCCCCCttt > 2:361201/1‑140 (MQ=255) aTCGGGCGACGATCCTTGGGGATAAACCGTTTTATCGGGCGGGGTAATACGAGAGTGGACGGTCCCCTCGCCCCCTTGGGGAGAGGGTTGGGGTGAGGGGGCGTTCACCGTACTTTCAACAGGTTAACTCCCCCTTTCTg > 1:263135/1‑140 (MQ=255) ttGGGGATAAACCGTTTTATCGGGCGGGGTAATACGAGAGTGGACGGTCCCCTCGCCCCCTTGGGGAGAGGGTTGGGGTGAGGGGGCGTTCACCGTACTTTCAACAGGTTAACTCCCCCTTTCTGAGAGGAAACAAAAtt > 2:60053/1‑140 (MQ=255) tAAACCGTTTTATCGGGCGGGGTAATACGAGAGTGGACGGTCCCCTCGCCCCCTTGGGGAGAGGGTTGGGGTGAGGGGGCGTTCACCGTACTTTCAACAGGTTAACTCCCCCTTTCTGAGAGGAAACAAAATTAACGCAg > 2:427465/1‑140 (MQ=255) cGTTTTATCGGGCGGGGTAATACGAGAGTGGACGGTCCCCTCGCCCCCTTGGGGAGAGGGTTGGGGTGAGGGGGCGTTCACCGTACTTTCAACAGGTTAACTCCCCCTTTCTGAGAGGAAACAAAATTAACGCAGAAtct < 1:360280/140‑1 (MQ=255) aTCGGGCGGGGTAATACGAGAGTGGACGGTCCCCTCGCCCCCTTGGGGAGAGGGTTGGGGTGAGGGGGCGTTCACCGTACTTTCAACAGGTTAACTCCCCCTTTCTGAGAGGAAACAAAATTAACGCAGAAtcttcttct < 2:609315/140‑1 (MQ=255) ggcgggGTAATACGAGAGTGGACGGTCCCCTCGCCCCCTTGGGGAGAGGGTTGGGGTGAGGGGGCGTTCACCGTACTTTCAACAGGTTAACTCCCCCTTTCTGAGAGGAAACAAAATTAACGCAGAATCTTCTTCTCAGc > 1:172968/1‑140 (MQ=255) aaTACGAGAGTGGACGGTCCCCTCGCCCCCTTGGGGAGAGGGTTGGGGTGAGGGGGCGTTCACCGTACTTTCAACAGGTTAACTCCCCCTTTCTGAGAGGAAACAAAATTAACGCAGAATCTTCTTCTCAGCCAAATCCa < 2:44945/140‑1 (MQ=255) gagTGGACGGTCCCCTCGCCCCCTTGGGGAGAGGGTTGGGGTGAGGGGGCGTTCACCGTACTTTCAACAGGTTAACTCCCCCTTTCTGAGAGGAAACAAAATTAACGCAGAATCTTCTTCTCAGCCAAATCCAGCGCaaa > 1:252432/1‑140 (MQ=255) gagTGGACGGTCCCCTCGCCCCCTTGGGGAGAGGGCTGGGGTGAGGGGGCGTTCACCGTACTTTCAACAGGTTAACTCCCCCTTTCTGAGAGGAAACAAAATTAACGCAGAATCTTCTTCTCAGCCAAATCCAGCGCaaa > 2:122630/1‑140 (MQ=255) gTGGACGGTCCCCTCGCCCCCTTGGGGAGAGGGTTGGGGTGAGGGGGCGTTCACCGTACTTTCAACAGGTTAACTCCCCCTTTCTGAGAGGAAACAAAATTAACGCAGAATCTTCTTCTCAGCCAAATCCAGCGCAAAGt > 2:199606/1‑140 (MQ=255) tGGACGGTCCCCTCGCCCCCTTGGGGAGAGGGTTGGGGTGAGGGGGCGTTCACCGTACTTTCAACAGGTTAACTCCCCCTTTCTGAGAGGAAACAAAATTAACGCAGAATCTTCTTCTCAGCCAAATCCAGCGCAAAGTa > 1:493839/1‑140 (MQ=255) cGGTCCCCTCGCCCCCTTGGGGAGAGGGTTGGGGTGAGGGGGCGTTCACCGTACTTTCAACAGGTTAACTCCCCCTTTCTGAGAGGAAACAAAATTAACGCAGAATCTTCTTCTCAGCCAAATCCAGCGCAAAGTAGCTg < 2:370528/140‑1 (MQ=255) cGGTCCCCTCGCCCCCTTGGGGAGAGGGTTGGGGTGAGGGGGCGTTCACCGTACTTTCAACAGGTTAACTCCCCCTTTCTGAGAGGAAACAAAATTAACGCAGAATCTTCTTCTCAGCCAAATCCAGCGCAAAGTAGCTg < 1:427465/140‑1 (MQ=255) gggAGAGGGTTGGGGTGAGGGGGCGTTCACCGTACTTTCAACAGGTTAACTCCCCCTTTCTGAGAGGAAACAAAATTAACGCAGAATCTTCTTCTCAGCCAAATCCAGCGCAAAGTAGCTGAAAATCAGATccgcacccg < 2:172968/140‑1 (MQ=255) agGGTTGGGGTGAGGGGGCGTTCACCGTACTTTCAACAGGTTAACTCCCCCTTTCTGAGAGGAAACAAAATTAACGCAGAATCTTCTTCTCAGCCAAATCCAGCGCAAAGTAGCTGAAAATCAGATCCGCACCCGCACGc < 2:263135/140‑1 (MQ=255) | TGCCAATGCCGATTACCTGCCACAGCGACGGATAATGCATCGGGCGACGATCCTTGGGGATAAACCGTTTTATCGGGCGGGGTAATACGAGAGTGGACGGTCCCCTCGCCCCCTTGGGGAGAGGGTTAGGGTGAGGGGGCGTTCACCGTACTTTCAACAGGTTAACTCCCCCTTTCTGAGAGGAAACAAAATTAACGCAGAATCTTCTTCTCAGCCAAATCCAGCGCAAAGTAGCTGAAAATCAGATCCGCACCCGCACGC > NC_000913/388562‑388822 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 33 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |