| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 2,679,525 | G→T | 100% | A1074D (GCT→GAT) | yphG ← | DUF4380 domain‑containing TPR repeat protein |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 2,679,525 | 0 | G | T | 100.0% | 92.0 / ‑6.7 | 35 | A1074D (GCT→GAT) | yphG | DUF4380 domain‑containing TPR repeat protein |
| Reads supporting (aligned to +/- strand): ref base G (1/1); new base T (15/18); total (16/19) | |||||||||||
| Rejected as polymorphism: E-value score below prediction cutoff. | |||||||||||
| Rejected as polymorphism: Frequency below/above cutoff threshold. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
TTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGTT > NC_000913_3_hsa_tpiA/2679385‑2679669 | ttttATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCTTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTa > 2:456525/1‑149 (MQ=255) attaACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGCGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAACGCATCACGGTACTGAATAATGCCGCTTCCGGCCAATCGGGATCAATCg > 2:149365/1‑149 (MQ=255) taACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATCGGGTCTGGTGGCAGCGGGTAAAAATGAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGcc > 2:417015/1‑149 (MQ=255) taACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGcc < 1:483065/149‑1 (MQ=255) ggCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAAtt < 1:192662/149‑1 (MQ=255) attattTTGTGGCGAGCGGCAGCGNGTGTCGCTCAAATATTTCAGTTAATAGGGTTTAGTGAACGCGGGTAAAAATAAAAGGAACAACGGGTGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCa < 1:97562/149‑1 (MQ=255) gatgaGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCAGCGTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCACGAGCAGACTTATAtt > 1:361055/1‑149 (MQ=255) gcgGGCCGCTCAATTATTACAGTTAATAGTGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCGCGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTACTCGCCGTAAATTCAGCGCGAGTAGACTCATATTGCGCAAACTcccc < 2:400418/149‑1 (MQ=255) gTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAAGGCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGa < 1:681160/149‑1 (MQ=255) ctGCCGCTCAAATATCACAGTTAATAGGCTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGa < 1:645852/148‑1 (MQ=255) tCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCcgc < 1:215779/149‑1 (MQ=255) atTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATACCGCGCGGCTCGATGGTGACTAATGCTGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCCCAACCTCCCCGGGTCCCGCGGACGc > 1:679018/1‑149 (MQ=255) cAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTCCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTACGCAACCTCCCCGAGTCCCGCCGACGCCCGc > 2:466651/1‑149 (MQ=255) aGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCa > 1:185542/1‑149 (MQ=255) ttAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATc > 1:683695/1‑149 (MQ=255) aaaGGGTTGAGTGAACGCGGTTAAAAATAAAAGGCAGCACGGTGGTGAATTATGCCGCCTTCGGCCTATCCGGATCAATCGCCGTCAATTCAGCGCGAGCAGACTGCTATGGTGCAACCCTCCCGAGTCCCGGGGACGCCAGCATCGcc < 2:176847/147‑1 (MQ=255) tAGGGGTTAGGGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCCGCGCGAGCAGACTCATATTACGCAACCTCCCCCACTCCCCCGGCCGCCAGTATCCcca > 2:234448/1‑149 (MQ=255) ggTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGccacca > 1:484749/1‑149 (MQ=255) aGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAgg < 2:123446/149‑1 (MQ=255) gTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCACGAGTCCCGCGGACGCCAGCATCGCCACCATCCGGc > 1:485215/1‑149 (MQ=255) aaCGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCAtt < 1:165861/149‑1 (MQ=255) ctgggTTAAAAATAAAAGGGATCACGTTGGTTAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTTCCGCGTACGCTAGTATCGCCACCATCAGGCAtttt < 2:223571/146‑1 (MQ=255) gcgGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCAttttt < 1:391905/149‑1 (MQ=255) tAAAAATAGAAGGCTTCACGGTGGTGAATAATGCCGCTTTCGGTCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGGCACCATCAGGCATTTTTCTTTa < 2:120349/149‑1 (MQ=255) aaaTAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAtgc > 2:426532/1‑149 (MQ=255) aaaGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCCTCAGGCATTTTTCTTTATGctgctg > 1:26073/1‑149 (MQ=255) aGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCtgtt < 1:4067/149‑1 (MQ=255) tCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATAGCCGTCAATTCAGCGCGAGCAGACTCAAATTGCGCAACCTCCCCGAGTCCCGCGGAAGCCAGCATCTCCACCATCAGGCATTTTTCTTTCAGCTGCTGTTGTaaa > 1:143035/1‑149 (MQ=255) aCGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATc < 1:512138/149‑1 (MQ=255) aCGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCCCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATc > 2:336628/1‑149 (MQ=255) gtggtgAATAATGCCGCTTTCGGCCAATCCGGATTAATGGCCGTCAATTCAGCGCGAGCAGACTCATATTGAGCAACCTCCGCGGTTCCCGCGGACGCCAGCATCGCCACCATCAAGCCTTTTTCTTTATGCTGCTGTTGTAAATCGcc > 2:585303/1‑149 (MQ=255) aataatGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAg < 1:93532/149‑1 (MQ=255) aatGCCGCTTTCGGCCAATCCGGATTAATCGCCGCCAATTCAACTCTAGCAGACTCATATTGCGCAACCTCCCCGAGGCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGa < 1:17140/149‑1 (MQ=255) gCCAATCCGGATTAATCGTCGTCAACTCAGCTCTAGCAGACTCATATCCGACACCCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTCTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGt < 1:91128/149‑1 (MQ=255) cgaaGCCGGGTTAATGGCGGTCAATTCAGCGCGAGTAGACTCATTTTGGGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGtt < 2:110769/147‑1 (MQ=255) | TTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGTT > NC_000913_3_hsa_tpiA/2679385‑2679669 |
| 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: ‑ |