Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 2,679,525 | G→T | A1074D (GCT→GAT) | yphG ← | DUF4380 domain‑containing TPR repeat protein |
Read alignment evidence... | |||||||||||
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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% | 67.0 / NA | 24 | A1074D (GCT→GAT) | yphG | DUF4380 domain‑containing TPR repeat protein |
Reads supporting (aligned to +/- strand): ref base G (0/0); new base T (10/14); total (10/14) |
GGGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAG > NC_000913_3_hsa_tpiA/2679381‑2679666 | gggTTTTTTTTAACTATTGCATATTCTAATTATGTTGTGATGAGCGGCAGCTCGTGCCGCTCAAATATTATAGTTAATAGGGTTTAGTGAACTCGGTTAAAAATAAAAGGCATCACGTTGGTGAATAATGCCGCTTTCGGCCACTCCgg > 2:413659/1‑149 (MQ=255) tattaACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATc < 1:60379/149‑1 (MQ=255) acaacGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGt > 1:498848/1‑149 (MQ=255) aacGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCACTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTaa < 2:225139/140‑1 (MQ=255) aacGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCACTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTaa > 1:225139/1‑140 (MQ=255) gCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCACATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAAtta > 1:117404/1‑148 (MQ=255) gCTGATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTc > 2:460732/1‑149 (MQ=255) cTAATTATTTTGGGATGAGCGGCAGCGCGGGCCGATTAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGa < 2:64334/149‑1 (MQ=255) gatgaGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATAtt < 1:555026/149‑1 (MQ=255) gatgaGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATAtt < 2:498848/149‑1 (MQ=255) ggCAGCGCGTGCCGCTCAAATATTCCAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAAc < 1:347568/149‑1 (MQ=255) cgggggCCGGTCAAATATTACAGTGAGTAGGGTTTAGTGGACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCATTTCAGCGCGAGCAGACTCATATTGCGCAACCTccc < 2:37367/144‑1 (MQ=255) cAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCg > 2:180374/1‑99 (MQ=255) cAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCg < 1:180374/99‑1 (MQ=255) atTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGCCGc > 2:112532/1‑149 (MQ=255) aGTGAACGCGGTTAAAAATAAAAGGCAGCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAgg < 1:11947/149‑1 (MQ=255) aaCGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCAtt < 1:477459/149‑1 (MQ=255) gaaaaGGCATCTCGGTGGTGAATTATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAtgctgc < 2:355048/148‑1 (MQ=255) ggCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGAGCGAGCAGACTCATATTAAGCAACCTCCACGAGCCCCGCGCACGCCAGCATCGCAACCACCAGGCATTTTTCTTTATGCTGCtgttg > 1:571535/1‑149 (MQ=255) gtggttAAGAGTGCCGCTTTCGGCTTATCCGGGTTAATCGCCGTGAATTCAGCGGGTGCATTCTCTTTTTGCGCTACCTTTTCTATTTTTGCGGTCGCTAGGATCGCCACCCTCAGGCATTTTTCTTTATGCTGCTGTTGTTTATCgtt < 2:98695/149‑3 (MQ=255) gAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGACATTTTGCTTGATGCTGCTGTTGTAAATCGCCATGCa > 1:165512/1‑149 (MQ=255) aatGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGa < 1:1231/149‑1 (MQ=255) tCGGCCAATCCGGATTAATCGCCGTCAATGCAGCGCGAGCAGACTCATATTGCGTACCCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCa < 1:515274/149‑1 (MQ=255) cGGCCAATCCGGATTAATCGCCGTCAAATCCGGGCGATCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAg > 1:593356/1‑149 (MQ=255) | GGGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAG > NC_000913_3_hsa_tpiA/2679381‑2679666 |
Alignment Legend |
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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: ‑ |