Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 4,111,662 | G→A | L179L (CTG→TTG) | yiiQ ← | DUF1454 family putative periplasmic 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 | 4,111,662 | 0 | G | A | 95.1% | 115.6 / ‑5.2 | 42 | L179L (CTG→TTG) | yiiQ | DUF1454 family putative periplasmic protein |
Reads supporting (aligned to +/- strand): ref base G (0/0); major base A (19/20); minor base T (0/2); total (20/22) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 4.90e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.39e-01 |
AGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGAGTGTGC > NC_000913_3_hsa_tpiA/4111519‑4111802 | aGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGGAACGGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCt > 2:493859/1‑149 (MQ=255) ggAAGATGGCCGCCCCGCCGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCtt < 1:57992/149‑1 (MQ=255) ggAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCtt > 1:27336/1‑149 (MQ=255) tgtaAACCAGTATAGCGATTCATCGGCACAAAGGCTTTGCTCTTTGTCATTTATTCAAACCTTCAAGCGATTCTGATAGCGCCAGCCTAATCGCTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCTCGACGACC‑Tagccctgt > 2:217869/1‑142 (MQ=255) gAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCa < 1:381814/149‑1 (MQ=255) aaaCAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCAc < 1:231568/149‑1 (MQ=255) aaCAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCAcc > 1:231410/1‑149 (MQ=255) aCAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCAccg > 1:261706/1‑148 (MQ=255) aGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTc > 2:357851/1‑149 (MQ=255) ataGAGATTCATGGGCACAAAGGCTTTGCTTTTTGTCAATTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCCTTTCGCCGTTGTCCGCGACAACA‑TACCGCAGTGCACCTTCTGt < 2:464173/149‑1 (MQ=255) ataGAGATTCACCGGCAGAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCACGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGt < 2:464536/149‑1 (MQ=255) gaTTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGTCTCgg < 1:52044/149‑1 (MQ=255) aTTCATCGGTATGAAGGGTTTGCTTTTTGTCATTTATTCATTCTTTCATGTGATTAAGATATCGCGAGCTTAATCGGTTCACCAGTGAAGGTCTACCCCTTTTCGCGGTTGTCCGCGACAACA‑TATCGCAGTGCCCCTTCTGTCTCGgt < 2:179871/149‑1 (MQ=255) ggCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGTCTCGGTGtaataa > 1:29619/1‑149 (MQ=255) gCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGTCTCGGTGTAATAAc < 1:125262/149‑1 (MQ=255) aaGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCG‑CAACATTTACGCAGTGCACCTTCTGTCTCGGTGTAATAACgtttg < 1:493859/149‑1 (MQ=255) ttgctttTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTc < 1:403781/149‑1 (MQ=255) tGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGt < 2:29619/149‑1 (MQ=255) gTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGtt > 1:44622/1‑149 (MQ=255) tCATTTATTCAAACCTTCAAGCGCTTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCACCCACTTTTCGCCGTTGTCCGCACCAACA‑TAACGCAGTGCACCTTCTGCCTCGGTGTAATATCGTTGGTTTTTCCccgtctttc > 2:137786/1‑143 (MQ=255) tCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTta > 1:212008/1‑149 (MQ=255) ccATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTta < 1:278539/148‑1 (MQ=255) aTTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTACACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTtagt > 2:314238/1‑149 (MQ=255) tttATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGTCTCGGTGTACTAACGTTTGTTTTTCCCCGCCGTtagta > 1:204645/1‑149 (MQ=255) ttCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGa > 1:78891/1‑149 (MQ=255) ttCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGtt < 1:450342/149‑1 (MQ=255) aaGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGttttt > 1:324289/1‑149 (MQ=255) gCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTc > 1:415242/1‑149 (MQ=255) agccaGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCttt > 2:188145/5‑149 (MQ=255) gATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTtg > 2:164241/1‑149 (MQ=255) atagacccAGTTTAAGCTGTTTAACAGCGAAGGTCTTGCTTTTTTTGCTGTTGTCCGCGACAACA‑TAGCGCAGTGTACCTTCTGTCTCGGTGTTATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGATTGCAGTTTTTTCTGGCTTtgt < 2:261706/143‑1 (MQ=255) aTAACGCCAGCTTAATAGTTTTAACAGCGAAGGCCATCCCCTTTTCTCTGTTGTCCGAGACAACA‑TAAAGCAGGGCACCTTCTGTCTCGGTGTAATAACGGTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTtgt < 2:15262/149‑1 (MQ=255) tAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTtgtg > 1:65071/1‑149 (MQ=255) cTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGGAGTTTTTTCTTGCTTTGTGTTTTGGTCa > 2:64785/1‑149 (MQ=255) tAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCAtt > 1:175103/1‑149 (MQ=255) gtgcAACGGCGAAGGTCGAGCGCGTTTCGGAGTTGTCCGCGATAACA‑TAACGCGGTGCTCCTTCTGGTTCGGTGTAATAACGTTTGTTTTTGCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCATGCTTTTTTCGTCATTAATtgg < 2:110933/146‑1 (MQ=255) gTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTACACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATggg < 1:314238/149‑1 (MQ=255) aaCAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCCCCACAACA‑TAACGCAGTGCACCTTCTGTCTCTGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGa < 1:137628/149‑1 (MQ=255) aaCAGCAAAGGTCTAACCCTACTCGCCGTTGTCCCGGACAACA‑TAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGa < 2:78891/149‑1 (MQ=255) cAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGAgt < 1:188145/149‑1 (MQ=255) gAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGAGTGTGc < 1:272800/149‑1 (MQ=255) gAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGAGTGTGc < 2:65071/149‑1 (MQ=255) | AGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGTTGTCCGCGACAACA‑TAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGAGTGTGC > NC_000913_3_hsa_tpiA/4111519‑4111802 |
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: ‑ |