| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 275,065 | G→A | 100% | 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 | 93.3% | 16.4 / ‑6.1 | 10 | T18I (ACC→ATC) | insH1 | IS5 transposase and trans‑activator |
| Reads supporting (aligned to +/- strand): ref base G (1/0); new base A (4/5); total (5/5) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
| Rejected as polymorphism: E-value score below prediction cutoff. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
AAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGGTAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCC > NC_000913_3_hsa_tpiA/275011‑275197 | aaaaTCCCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTa < 2:502279/149‑1 (MQ=255) tttCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGACGATAAGTTGATGACTCATGATGTACCCTGTTCTATGGTTCCAGATGTCAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTggc < 1:610218/149‑1 (MQ=14) gtcgggcGGGGCTTAGTGCTGAATTCACTGTGGGCGAAGATAAGGTGATGACGCAGGATGAACCCTGGTCTATGGGGCCAGATGACAAACATGAGCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCt < 2:665244/143‑1 (MQ=17) cGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTGGt > 1:78553/1‑149 (MQ=255) gcgcTTACTGCTGAATTCACTGTCGGCGGAGGTAAGTTGATGACTCATGATGAACCCTGGTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGTCGGCCCTTGTTGTAt > 2:387800/1‑149 (MQ=255) tgttgAATCAACTGTCGGCGAAGATTGGTTGATGACTCATGATGTACCCTGTTCTATGGCGCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCTGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGattat < 2:214551/146‑1 (MQ=18) tgctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGattat > 1:92282/1‑149 (MQ=255) gctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCGTGTTATAAAGCTCCAGATGACAAAGATGTTCTTGTAGCCGCGACTTGTTCCCCCCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCGGattatt > 2:213368/1‑149 (MQ=18) aaTTCACTGGCGGCGAAGATAAGTTGATGACTCATGATGAACACTGTTATATGGCTCCAGGTGACAAAGATTATCGCATGTCGGGGGCTGGTTGGCACCGTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATc < 2:408354/149‑1 (MQ=21) ttCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCGCTTTTTGTATCTGATTCTTAATccc > 2:541168/1‑149 (MQ=255) | AAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGGTAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCC > NC_000913_3_hsa_tpiA/275011‑275197 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |