| 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% | 47.7 / NA | 20 | A1074D (GCT→GAT) | yphG | DUF4380 domain‑containing TPR repeat protein |
| Reads supporting (aligned to +/- strand): ref base G (0/0); new base T (11/9); total (11/9) | |||||||||||
| Rejected as polymorphism: Frequency below/above cutoff threshold. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
TTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAAC > NC_000913_3_hsa_tpiA/2679386‑2679659 | tttATTAACAACGGCTTATTCTAATTATTTTGTGATGAGAGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATACCGCTATCGGCCAATcccgctcaa > 2:137877/1‑142 (MQ=255) tattaACAACGGCTTATTATAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATc < 1:24939/149‑1 (MQ=255) cTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCATCAATTCa > 1:30879/1‑149 (MQ=255) ttATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATAAAACAGGTAAGAGCGTTTAGTGCACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAg < 1:424917/149‑1 (MQ=255) tCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATACTGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGcgcg > 1:516574/1‑149 (MQ=255) tAATTATGTGGTGGTGGGCGGGAGCGGGGGCCGATGGACTATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAg < 2:70116/149‑1 (MQ=255) ttGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGCATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCa > 2:344875/1‑149 (MQ=255) atgaGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCAAGAGGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTAACTTTAGCGCGGGAAGACTCATATTg > 1:238307/1‑149 (MQ=255) aaTATTACAGTTAATAGGGTTTAGTGAACGTGGTTAAAAATAAAAGGTATCGCGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGa < 1:323824/149‑1 (MQ=255) gggTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGAGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCAAGCAGACTAATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGccacc > 2:442843/1‑149 (MQ=255) gaatAAAAAGAAAAGGCATCACGGTGATGAAAAATGCCGCCTTCGGCCAATCCGAATTAAGCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAAACCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCt < 2:578596/146‑1 (MQ=255) ttAAAAATAAAAGGCATCGCGGTGGTGAATAATGCCGCTTTCGGCCAATGCGGATTAATCGCCGTCAATTGAGCGCGAGCAGACTCATATTGAGCAACCTCCCCGAGTCCCGCGGACGCCCGCATAGCCGCCATCAGGCATGTTTCgtt > 2:451755/1‑149 (MQ=255) tAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCCTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTa < 2:296711/149‑1 (MQ=255) aaaaaTAAGAGGCATCGCGGTGGTGAATAATGCCGCTTTCGGCGAATGGGGAGTGATCGCCGTTAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCATCATCAGGCATTTTTCTTTAt < 1:115650/149‑1 (MQ=255) aaaaaTAAAAGGCGTCATGGGTGTAAATATGTCCGCTTTCCCCCAATCCGTATAAATCGCCGTCAATTCGGCGCGAGCAGACTTATATTGCTCAACCTCCCCTAGCCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAt < 2:201263/149‑1 (MQ=255) tAAAAGGCTTCTCGGTGGTGAATTATGCCGCTTTCGTCCAATCCTGTTTAATCGTCTTCAATTCAGCGCGAGCAGTCTTTTTTTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCTTCGCCACCATCATGCATTTTTGTTTAtgctgc < 2:120094/149‑1 (MQ=255) tAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAtgctgc > 1:4872/1‑149 (MQ=255) ggtgAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCAt > 1:175113/1‑149 (MQ=255) aataatGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGCCTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTTTTTATGTTGCTGTTGTAAATCGCCATatac > 2:448698/1‑146 (MQ=255) ccGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGTATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGacaac > 1:121180/1‑149 (MQ=255) | TTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAAC > NC_000913_3_hsa_tpiA/2679386‑2679659 |
| 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: ‑ |