| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 275,065 | G→A | T18I (ACC→ATC) | insH1 ← | IS5 transposase and trans‑activator |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 275,065 | 0 | G | A | 96.2% | 61.0 / NA | 26 | T18I (ACC→ATC) | insH1 | IS5 transposase and trans‑activator |
| Reads supporting (aligned to +/- strand): ref base G (0/1); new base A (14/11); total (14/12) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.62e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
GACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGGTAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCGCTATTAA > NC_000913_3_hsa_tpiA/275005‑275210 | gACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAg < 1:75922/149‑1 (MQ=17) aCAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCggcgc > 2:526209/1‑146 (MQ=14) aCAAGAAAATCTCTTGTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATCACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAgg < 1:718179/149‑1 (MQ=16) aGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTAGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCCCGGACTCGTTCGCACCTTCCGCGGGCGt > 1:135211/1‑149 (MQ=11) tctTTTCTGGTATGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCt > 1:555842/1‑149 (MQ=255) ttttCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTgg < 2:843892/149‑1 (MQ=255) tGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAGCATGATCGCATATCAGGGACTTGTTCGCACCTTCCGGCGGCGTTATGAGCTGGCAGCCCtttt > 1:805237/1‑149 (MQ=14) tGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGCTGATGACTCATGATGAACCCTGTACTATGGCTCCAGATGACAAACATGATCTCATGTCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCtttt > 2:860828/1‑149 (MQ=255) cGGCGCTGACTGATGAATTCACTTTCGGTAAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGt < 2:197566/149‑1 (MQ=17) ggCGCTTATTGATGAATTGACTGTGGGCGAAGATAAGTTGATGACGCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTa < 2:803177/149‑1 (MQ=17) ggCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGAGTCATGATGAGCCGTGTACTATGGCTACAGATGACAAACATGATCTCATATCAGGGACTGGTTCGCACCTTCCGGGGGCGTGATGAGCTGGCGGCCCTTTCTGTa > 1:765281/1‑149 (MQ=17) gcTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCTGTATGATCCGTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCAGGCGGCCCCTTTTGTATCt < 2:765281/149‑1 (MQ=17) cctgctgAATTCCCTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGatt < 1:37062/148‑1 (MQ=255) ctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGAttatta > 2:898260/1‑149 (MQ=255) ctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTACCTGAttatta > 2:312059/1‑149 (MQ=255) tgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTaa < 1:406577/149‑1 (MQ=255) gAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGCTGACAACCATGATCTCATATCAGGGACTTGTTCGCACCTTCCGAAGCCGTTATGAGCTGTCGGCCCTTTTTGTCTCTGATTATTAAt > 2:759803/1‑149 (MQ=17) cTGTCGGCGAAGATAAGTTGAGGACTCAAGATGACCCCTGTTCTATGGCTCCAGATGCCAAACATGAACTCATATCAGGGACTTGTTCGCCCCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCAcc < 2:35811/149‑1 (MQ=21) tGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATc < 2:559431/130‑1 (MQ=255) tGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATc > 1:559431/1‑130 (MQ=255) tGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCAccc > 1:593611/1‑149 (MQ=255) gTCGGCGAAGATAAGTTGATGACTCATGATGAAAACTGTTCTATGGCTCCAGAGGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCg > 1:862033/1‑149 (MQ=255) ggCGAAGGTAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCCCCCGCTa < 2:554328/149‑1 (MQ=255) ggCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTAGCACCTTCCAGAGGCGTTATGAGCTGGCGGCCCTTTTTTTATCTGATTATTAATCCACACCCTCTa > 2:637833/1‑149 (MQ=18) gCGAAGATAAGTTGATGACTCATGATGAAACCTGTTCTATGGCTCCAGATGCAAAACCTGATCTCTTATGAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGCGCTGGCGGCCCTTTTTGTATCTGATTGTTTATCCCCACCCGcgtt > 1:79063/1‑146 (MQ=21) aaGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCGCTATTaa < 2:79063/149‑1 (MQ=255) | GACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGGTAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCGCTATTAA > NC_000913_3_hsa_tpiA/275005‑275210 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |