| 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 | 96.8% | 79.0 / ‑5.3 | 29 | A1074D (GCT→GAT) | yphG | DUF4380 domain‑containing TPR repeat protein |
| Reads supporting (aligned to +/- strand): ref base G (0/0); major base T (13/15); minor base A (0/1); total (13/16) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.40e-01 | |||||||||||
| 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. | |||||||||||
GGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGT > NC_000913_3_hsa_tpiA/2679382‑2679663 | ggTTTTTATTAACAACGGCTTATTCGAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAAAAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGa < 1:623557/149‑1 (MQ=255) attaACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCAGCTTTCGGCCAATCTGGATTAATCg > 1:397063/1‑149 (MQ=255) taACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGcc < 1:381840/149‑1 (MQ=255) aacGGCTTATTCTAATTATTTTGTGATGAGCGGCAGGGCGTGCCGCTCAAATATTACAGTTAAGAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCa < 1:16547/149‑1 (MQ=255) tAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTAAAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAg > 1:663616/1‑149 (MQ=255) tggtgaGCGGCAGCTCGTGCCGCTCAAATATTACAATGAATAGGGTTTAGTGAACGCGGTTGAAAATAAAAGGCATCACGGCGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCTCCGTCAATTCAGCGCGAGCAGACTCatat < 1:330972/146‑1 (MQ=255) tgatgaGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATTACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCCCGAGCATACCCatat > 2:239797/1‑149 (MQ=255) tgatgaGCGGCAGCGCGTGCCGCTCAAATATTACAGGTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCCATCCGGATTCATCCCCGTCAATCAAGCCCCAGCAGCCTccatc > 2:311334/1‑145 (MQ=255) tgggCGGCAGGGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTgc < 2:504762/146‑1 (MQ=255) gCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGGCTCATATTGCGCAAcc > 1:87330/1‑149 (MQ=255) cAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCt > 1:523148/1‑149 (MQ=255) aaTATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGa < 1:346092/149‑1 (MQ=255) tACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCa > 1:483644/1‑149 (MQ=255) gTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCTAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCAt < 1:653039/149‑1 (MQ=255) aGTGAAAGGGGTTAAAAATAAAAGGCGTCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAgg < 2:161236/149‑1 (MQ=255) ggTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGCAAAGTCCGCTCCTTCATCGCCACCATCAGGCATTTTTCt < 1:164169/149‑1 (MQ=255) ttAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCttt > 1:157048/1‑149 (MQ=255) aaaaTAAAAGGCATCACGGCGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAtg < 1:387007/149‑1 (MQ=255) aaaTAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCGTTAtgc > 1:162262/1‑149 (MQ=255) aGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCtttt > 1:81491/1‑149 (MQ=255) aGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCAACAGGCATTTTACTTTATGCTGCtgta > 1:225834/1‑148 (MQ=255) tcgctggtgAATAATGCCTCTTGCGGCCAATCCGGATTAATAGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTaaaac < 2:138050/145‑3 (MQ=255) ttgttaatattGTCGCTTTCTGCCATTCGTGATTAATCGCCGTTTTTTGTGCGCTAGCAGACTCATATCGCGCAGCTTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCACCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCa < 1:277884/144‑1 (MQ=255) aataatGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAg > 2:556071/1‑149 (MQ=255) ataatGTCGGTTTCGGCCAATCCTGATTAATCGCCGTCAATTCAGCGCGAGCATACTCGTATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGc < 2:617516/149‑1 (MQ=255) ataatGCCGCTTTCGGCCAATGCGGATTAAGCGCCGTCAATTCAGCGCGAGCAGCCTCATAACGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTCTTCCTCACGCGGTTGTTGTAAATCGCCATACAGc < 2:524294/149‑1 (MQ=255) aatGGCGCTTTCGGCCAATTCGGATTAATCGCCGTCCATTCAGCGCGTGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGa < 2:443775/149‑1 (MQ=255) tgcttgggCCCAACCGGATTAATCGCCGGTAATTCCGCGCGAGCAGTCTCATATTGCGCAATCTCCTCGAGTCACGCGGACGCCAGCATCGGCACGATCAGGCATTTTTTTTTATGCTGCTGTTGTAAATCGCCATACAGCGAcaacaa < 2:339660/143‑1 (MQ=255) tttCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCCGCATCGCCACCATCAGGCCTTTTTCTTTATGATGCTGTTGTAAATCCCCATACAGGGAcaacaact > 2:129209/1‑147 (MQ=255) | GGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGT > NC_000913_3_hsa_tpiA/2679382‑2679663 |
| 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: ‑ |