Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 2,817,170 | C→A | E112* (GAA→TAA) | yqaB ← | fructose‑1‑P and 6‑phosphogluconate phosphatase |
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 | 2,817,170 | 0 | C | A | 96.7% | 92.0 / NA | 30 | E112* (GAA→TAA) | yqaB | fructose‑1‑P and 6‑phosphogluconate phosphatase |
Reads supporting (aligned to +/- strand): ref base C (0/0); major base A (15/14); minor base T (1/0); total (16/14) | |||||||||||
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 |
CCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGA > NC_000913_3_hsa_tpiA/2817037‑2817307 | cccATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTAACTCCCCGTTCCTAc > 1:444393/1‑149 (MQ=255) ccATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTAACTCCCCGTTCCTACa > 2:10536/1‑149 (MQ=255) gCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGGAATCCCAGGTGCGCCAGCAATGCCTCAGC‑GCTGGCGCGTTACCGCCCCGTTCCTACAGCCAtt > 1:768587/1‑149 (MQ=255) tGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATACCAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTAACTCCCCGTTCCTACAGCCATTgg < 2:721916/149‑1 (MQ=255) gcgcgcACAACAAAAATGTGTCTGGCGCGGGTCTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAAGAATGGCGTAATCCCAGGTGCGCCAGCAATTCCTCAGC‑GATGGCGCTTTAACTCCCCGTTCCTACAGCCATTggg < 1:245994/149‑1 (MQ=255) gcACAACAAAAATGTGTCTGGCGCGGGTTTGCGTTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGcgac > 1:615800/1‑149 (MQ=255) gcACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAACTGATGGCGTAATCCCAGGGGGGCAAGCAATGCCTCAGC‑GATGGCGCTTTTACTCCACGTTCCTAGCGCCATTGGGcaga > 2:269508/1‑146 (MQ=255) cTGGCGCGGGTTTATGGTGTTTGCCGTGCTCCGCAGCCGCCGCGGACCCCAGCGAGTGGCGTAATCCATACTTGGTCAACCATGCCTAGCCTGAT‑GCTCGTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTc < 1:611374/149‑1 (MQ=255) gTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTAACTCCCCGt < 1:132282/103‑1 (MQ=255) gTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTAACTCCCCGt > 2:132282/1‑103 (MQ=255) tGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGc < 2:335638/149‑1 (MQ=255) cGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGt > 2:453072/1‑149 (MQ=255) aTCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGa > 1:723905/1‑149 (MQ=255) tCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGAc > 1:148104/1‑149 (MQ=255) cAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTa < 2:378662/149‑1 (MQ=255) gacgacGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCCCCACAGCAACAAGAGGAAGCGGTTCGACGCTATCca < 2:673284/149‑1 (MQ=255) gacgGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCcagca < 2:437863/149‑1 (MQ=255) acgGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCcagcag > 1:564409/1‑149 (MQ=255) cgGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCagcagc > 1:355526/1‑149 (MQ=255) cGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATa < 2:444393/149‑1 (MQ=255) gTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTTTCCAGCAGCATAc < 1:10536/149‑1 (MQ=255) aaaaaTAAGGGCGTAATCCCAGGTCCGCCAGCAATGCCGCAGC‑GATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATActt < 2:445610/148‑1 (MQ=255) ataagGGCGGAATCCCAGGTGCGCCAGCAATGCCTCAGC‑GCTGGCGCTTTAACTCCCCGTTCCTACGGCCAGTGGGCGACGACCATGCCAACTTCTCACCACATCAACAACAGGAAGCGGCTCGACGCTATCCAGCCGCAAACTCCTTa < 2:817125/149‑1 (MQ=255) atGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCCTACTTCTTACTg > 1:513152/1‑149 (MQ=255) tAATCCCAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGTTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTg > 2:214178/1‑149 (MQ=255) tCCCAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGttt > 1:386489/1‑149 (MQ=255) ccAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGttttt < 1:486817/149‑1 (MQ=255) ccAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACCGCTTCTGttttt > 2:187038/1‑149 (MQ=255) aGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTc > 1:755410/1‑149 (MQ=255) gATGGCCCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCga < 1:83352/149‑1 (MQ=255) | CCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGC‑GATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGA > NC_000913_3_hsa_tpiA/2817037‑2817307 |
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: ‑ |