| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 3,270,030 | T→C | 10.4% | intergenic (+428/+186) | yhaC → / ← rnpB | pentapetide repeats‑related protein/RNase P, M1 RNA component |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 3,270,030 | 0 | T | C | 10.4% | 120.8 / 4.1 | 48 | intergenic (+428/+186) | yhaC/rnpB | pentapetide repeats‑related protein/RNase P, M1 RNA component |
| Reads supporting (aligned to +/- strand): ref base T (14/28); new base C (3/2); total (17/31) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 3.36e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.95e-01 | |||||||||||
AAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGTAAAAACCCGCCGAAGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGCGTCGTGGACAGTCATTCATCTTTCTGCCCCTC > NC_000913_3_hsa_tpiA/3269894‑3270175 | aaGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGTAAAAACCCGCCGAAGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGtc < 3:75271/150‑1 (MQ=38) tGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGTAAAAACCCGCCGAAGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGc < 3:374119/150‑1 (MQ=39) gtgtCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGAAAAAACCCGCCGACGCGGGTTTTTACGTACAACAGGTGCAACTGACCGATAAGCCGCTTTCTTTTGGGGATAGTGTCGTGGATAGTCATGCATCTCTCTGcccaccccc > 4:74809/1‑144 (MQ=11) gtCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGTAAAAACCCGCCGAAGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGCGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCaaaa < 2:395367/150‑1 (MQ=17) tCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGTAAAAACCCGCCGAAGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAg > 1:395367/1‑150 (MQ=39) cGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGTAAAAACCCGCCGAAGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGc < 1:531875/150‑1 (MQ=38) aCAGTCATTCATCTTTCTGCCCCTCCAAAAGTAAAAACCCGCCGAAGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCaaaaa < 1:517870/150‑1 (MQ=38) cattcatCTTTCTGCCCCTCCAAAAGTAAAAACCCGCCGAAGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACccgc < 1:291605/150‑1 (MQ=38) atCTTTCTGCCCCTCCAAAAGTAAAAACCCGCCGAAGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATGCATCTTTCTGCCCCTCCAAAAGCACAAACCCGCCTAAg > 2:143339/1‑150 (MQ=255) cTTTCTGCCCCTCCAAAAGTAAAAACCCGCCGAAGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGCGTCGTGGACa < 4:340732/104‑1 (MQ=17) cTTTCTGCCCCTCCAAAAGTAAAAACCCGCCGAAGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGCGTCGTGGACa > 3:340732/1‑104 (MQ=17) tttCTGCCCCTCCAAAAGTAAAAACCCGCCGAAGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCgg < 1:533216/150‑1 (MQ=37) tttCGGCCCCTCCAAAAGTAAAAACCCGCCGAAGCGGGTTATTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACCGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCgg < 2:449914/150‑1 (MQ=255) tGCCCCTCCAAAAGTAGAAACCCGCCGAAGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGttt > 1:163754/1‑150 (MQ=255) tGCCCCTCCAAAAGTAAAAACCCGCCGAAGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGttt < 1:74080/150‑1 (MQ=38) tGCCCCTCCAAAAGTAAAAACCCGCCGAAGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGttt < 1:360978/150‑1 (MQ=38) cccTCCAAAAGTAAAAACCCGCCGAAGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGCGTCg > 3:324295/1‑90 (MQ=25) cAAAAGTAAAAACCCGCCGAAGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGCGTCGTGGACAGGCATTCATCTTTCTGCCCCTCCAAACGCAAAAACCGGCCGAAGCGCGTGTCTACGCaa > 2:525395/1‑150 (MQ=11) attAAAAACCCGCCGAAGCGGGTTTTTACGTAAAACAGGTAAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCa < 2:142042/148‑1 (MQ=255) agcagaaaCCCGCCGCACCGGGTGTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGCACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAGCCCGCCGAAGCGCGTTTTTACGTAAACCa < 2:302058/145‑1 (MQ=11) tAAAAACCCGCCGAAGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAgg > 3:21960/1‑150 (MQ=39) aaaaCCCGCCNAAGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGNCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTg < 1:394759/150‑1 (MQ=38) cccGCCGAAGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTGTTTTGGGTATAGTGTCGTGGACAGTCATCTATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTGAAAc > 2:428856/1‑150 (MQ=255) ccgccgAAGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCttt > 1:146013/1‑91 (MQ=39) gccgAAGCGGTTTTTTACGTAAAACAGGTAAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTGAAACTGa < 2:180929/150‑1 (MQ=255) aacGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTGTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTGAAACTGACCGAt < 2:525434/148‑1 (MQ=255) aGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTGAAACTGACCGAt > 2:153570/1‑150 (MQ=38) cGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTGAAACTGACCGATaa > 3:158877/1‑150 (MQ=38) ttACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTGAAACTGACCGATAAGCCGctt < 2:164239/150‑1 (MQ=40) aCGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTGAAACTGACCGATAAGCCGcgttc > 4:129060/1‑150 (MQ=38) tAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCCTTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTGAAACTGACCGATAAGCCGctttcttt > 3:295065/1‑150 (MQ=255) aaaCAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTGAAACTGACCGATAAGCCGCTTTCTTTTg < 1:223619/150‑1 (MQ=40) atcAGGTGAAACTGACCGATAAGCCGCGTTGTGTGCGGAAGGGATGCGTAGAGAGTGACTGATGGTTCTGCCCCTCCAAAAGTAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTGAAACTGACCGATAAGCCGCTTTCTTTTgg < 1:496947/148‑1 (MQ=2) atcAGGTAAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTGAAACTGACCGATAAGCCGCTTTCTTTTgg < 2:14189/148‑1 (MQ=11) aaCAGGTAAAACTGACCGATAAGCCGCTTTCTTTTGGGTAGAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTGAAACTGACCGATAAGCCGCTTTCTTTTgg < 4:340540/150‑1 (MQ=25) aaCAGCTGAAACTGACCGATAAGCCGCTTTCTTTTGAGTATAGTGTCGAGGACTGTCATTCAGCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTGAAACTGACCGATAAGCCGCTTTCTTTTgg < 1:196133/150‑1 (MQ=11) tcAGGTTAAACTTACCGATACGCCGCTTTCTTTTGCGTATAGTGTCGTGGACACCCATTCGTATTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTGAAACTGACCGATAAGCCGCTTTCTTTTggg < 2:584506/149‑1 (MQ=11) cTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGt < 3:235446/92‑1 (MQ=33) tGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGcgtcgt < 3:28641/150‑1 (MQ=39) tGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGcgtcgt < 2:442977/150‑1 (MQ=38) aCCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGCGTCGTgg > 1:177893/1‑150 (MQ=38) aaGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGCGTCGTGGACAGtc < 4:21805/150‑1 (MQ=17) ccGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGCGTCGTGGACAGtcatt > 3:102641/1‑150 (MQ=38) ccGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGCGTCGTGGACAGtcatt > 1:390959/1‑150 (MQ=38) cctttctgtTGGGTATGGTGGCGCGGACAGTCATCCATCTTGCTGCCCCTCCGAACGCAAAAACCCGCCGGAGCGGGTTTTTACGTAAACCAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGCGTCGTGGACAGtcattca < 2:30712/149‑1 (MQ=11) tGGGTATAGTGTCGTGGAAAGCCATTCATCTTTATGGCCCTCCAAAAGCTAAAACCCGCCGAAACGGGTTTTTACGTAAATCAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGCGTCGTGGACAGTCATTCATCTTTCTGc < 2:568982/150‑1 (MQ=11) ataGTGTCGTGAACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGCGTCGTGGACAGTCATTCATCTTTCTGCCCCTc < 3:25916/150‑1 (MQ=37) aGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGtat < 2:20897/113‑1 (MQ=37) | AAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGTAAAAACCCGCCGAAGCGGGTTTTTACGTAAAACAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGTGTCGTGGACAGTCATTCATCTTTCTGCCCCTCCAAAAGCAAAAACCCGCCGAAGCGGGTTTTTACGTAAACCAGGTGAAACTGACCGATAAGCCGCTTTCTTTTGGGTATAGCGTCGTGGACAGTCATTCATCTTTCTGCCCCTC > NC_000913_3_hsa_tpiA/3269894‑3270175 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |