Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_pgi | 1,527,876 | C→T | 9.8% | intergenic (+724/‑26) | yncH → / → rhsE | IPR020099 family protein/pseudogene, Rhs family |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_pgi | 1,527,876 | 0 | C | T | 9.8% | 113.3 / 4.6 | 48 | intergenic (+724/‑26) | yncH/rhsE | IPR020099 family protein/pseudogene, Rhs family |
Reads supporting (aligned to +/- strand): ref base C (20/22); new base T (2/3); total (23/25) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 3.40e-01 |
CGCTGTAATGTACGAGCCTGTCGTGAATAACGTCGAGAACCCATCCGTTGCGTTTGTGATTATTTTGTTGACTAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAGGCCACCGCGTGTCGGTCCACTACGGCTATGACGATAAAGGCCGCCTGACCGGCGAACGCCAGACGGTGGAGAACCCGGAGACGGGGGAACTGCTG > NC_000913_3_hsa_pgi/1527729‑1528024 | cGCTGTAATGTACGAGCCTGTCGTAAATAACGTCGATAACCCATCCGTTGCGTTTGTGATTATTTTGTTGACTAAACAGACACCCTTTTCTCTTAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTccc < 1:12441/149‑1 (MQ=255) cTGTAATGTACGCGCCTGTCGTGAATATCGTCGAGAACCCATCCGGTGCGTTTGTGATTATTTTGTTGACTAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCg < 2:462961/149‑1 (MQ=255) tGTACGAGCCTGTCGTGAATAACGTCGAGAACCCATCCGTTGCGTTTGTGATTATTTTGTTGACTAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCAACGGTaaag > 1:119278/1‑147 (MQ=255) tACGAGCCTGTCGTGAATAACGTCGAGAACCCATCCGTTGCGTTTGTGATTATTTTGTTGACTAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGCCTAAATCATAACATAACCATGACATTTTTCTGATATTCCCCGGTTACTcc > 2:78827/1‑149 (MQ=255) aCGAGCCTGGCGTGAATAACGTCGAGAACCCATCCGTTGCGTTTGTGATTATTTTGTTGACTAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCa < 2:490926/149‑1 (MQ=255) aGCCTGTTGTGAATGACGTCGAGAACCCATCCGTTGCGTTTGTGATTATTTTGTTGACTAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCAGAt < 2:165459/149‑1 (MQ=255) ccTGTCGTGAATAACGTCGAGAACCCATCCGTTGCGTTTGTGATTATTTTGTTGACTAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCAGATGt < 1:512104/149‑1 (MQ=255) gTCGTGAATAACGTCTAGAACCCATCCGTTGCGTTTGTGATTATTTTGTTGACTAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCAGATGTCGa < 2:455292/149‑1 (MQ=255) tCGTGAATAACGTCGAGAACCCATCCGTTGCGTTTGTGATTATTTTGTTGACTAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCAGATGTCGAc < 1:199037/149‑1 (MQ=255) cGAGAACCCATCCGTTGCGTTTGTGATTATTTTGTTGACTAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCAGATGTCGACTCGCTTAaccacc < 1:589544/149‑1 (MQ=255) cccATCCGTTGCGTTTGTGATTATTTTGTTGACTAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGc < 1:259530/149‑1 (MQ=255) aTCCGTTGCGTTTGTGATTATTTTGTTGACTAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCGGATGTCGACTCGCTTAACCACCCTCAGCCAt > 1:130639/1‑149 (MQ=255) gTTTGTGATTATTTTGTTGACTAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGaa < 1:195634/149‑1 (MQ=255) gTTTGTGATTATTTTGTTGACTAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGaa < 1:88965/149‑1 (MQ=255) tttGTGATTATTTTGTTGACTAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAg < 1:171070/149‑1 (MQ=255) ttGTGATTATTTTGTTGACTAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAgg > 1:634260/1‑149 (MQ=255) gtgATTATTTTGTTGACTAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGCCTAAATCATCCCATAACCAAGACATTTTTGTGATATTCCCCGGTCACGCCGGATGTCGACTCGGCTAACCACCCTCAGCCACACCCGTCAAGGcc > 2:328328/1‑149 (MQ=255) ttattTTGTTGACTAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAGGCCACcg < 1:534873/149‑1 (MQ=255) ttattTTGTTGACTAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAGGCCACcg > 2:84020/1‑149 (MQ=255) ttgttgACGAAACAGACACCTGTTTCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATAGCAGTGAAGGCCACCGCgtgg < 2:45071/149‑2 (MQ=255) tgttgACTAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAGGCCACCGCGTGTc < 1:534006/149‑1 (MQ=255) gttgACTAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATGTTTATGATATTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTAAAGGCCACCGCGTGTCg > 1:127204/1‑149 (MQ=255) cttgACTAAACATACACCCGTTTCTTTGAAGTAAAATCCCAGCCTAAATCATCACATACTCATGACATTTTTCTGATATTCCCCGGCAACGCCAGATGCCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAGGCCACCGCGTGTCg < 2:48685/148‑1 (MQ=255) gccTAGACGGACGCCCGTGGCTCTGAAGTAAAATCCCAGACTAGATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAGGCCACCGCGTGTCGGTc < 1:302955/147‑1 (MQ=255) gACAAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGACTAAATCATCACACAACCATGACATTTTTCTGATATCCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAGGCCACCGCGTGTCGGTc < 2:218250/149‑1 (MQ=255) gtAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACAATGACATTTTTCTGATATTCCCCGGTAACGCAAGATGTCGACTCGCTTAACCACCCTAAGCCATACCCGTGCACACCACCGCGTGTCGGTCCa > 1:633820/2‑149 (MQ=255) cTAACCAGACACCCGGTTCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAGGCCACCGCGTGTCGGTCCa < 1:302402/149‑1 (MQ=255) tttCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAGGCCACCGGGGGTCGGTCCACTACGGCTATGACGa > 1:341481/1‑149 (MQ=255) tctGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAGGCCACCGCGTGTCGGTCCACTACGGCTATGACGATaaa > 1:339666/1‑149 (MQ=255) tgcaaGTAAAATCCCAGACTAAATCAACACATAACCATGACATTTTCCTGATCTCCCACGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGACGGCCACCGCGTGTCGGTCCACTACGGCTATGACGATAAAg < 2:333439/146‑1 (MQ=255) ccacaGTAAAATCCCAGACTAAATCATCACTTAACCATCACACCGTTCTTCCGTTCTCGTGTAACGCCAGATGTCGACCCCCTTAACCACCCCCAGCCATACCAGCAAAATCCACGTCGTGTCGGTCCACTACGGCTATGACGATAAAg < 2:332538/145‑1 (MQ=255) aaGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCAGATGTCGCCTCGCTTAAACACCCTCAGCCATACCAGTGCAGGCCACCGCGTGTCGGTACACTACGGCTATGACGATAAAGccc > 1:441365/1‑149 (MQ=255) tAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCACGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAGGCCACCGCGTGTCGGTCCACTACGGCTATGACGCTAAAGgccgcc > 2:307689/1‑149 (MQ=255) aGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAGGCCACCGCGTGTCGGGCCACTCCGGCTATGACGAGAAAGGCCGCCTGCCCGGCg > 1:107015/1‑149 (MQ=255) gACTAAATCATCACATAACCATGACATTTTTCTGATCTTCCCCGTTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAGGCCACCGCGTGTCGGTCCACTACGGCTATGACGGTAAAGGCCGCCTGACCGGCGa > 1:25995/1‑149 (MQ=255) tcatcaCATAACCATGACATTTTTCTGATATTCTCCGGTAACGCCAGATg > 2:285587/1‑50 (MQ=255) tcatcaCATAACCATGACATTTTTCTGATATTCTCCGGTAACGCCAGATg > 2:284370/1‑50 (MQ=255) tcatcaCATAACCATGACATTTTTCTGATATTCTCCGGTAACGCCAGATg < 1:284370/50‑1 (MQ=255) tcatcaCATAACCATGACATTTTTCTGATATTCTCCGGTAACGCCAGATg < 1:285587/50‑1 (MQ=255) gACATTTTTCGGATATTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAGGCCACCGCGTGTCGGTCCACTACGGCTATGACGATAAAGGCCGCCTGACCGGCGAACGCCAGACGGTGGAGAACCCg < 1:333492/149‑1 (MQ=255) ttCTGATATTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAGGCCACCGCGTGTCGGTCCACTACGGCTATGACGATAAAGGCCGCCTGACCGGCGAACGCCCGACGGTGGACAACCCGGAGACgg > 2:364461/1‑149 (MQ=255) tcggATATTCCCCGGTAACGCCAGATGTCCACTCGCTTAACCACCATCAGCCATACCAGTGAAGGCCACCGCGGGTCGGTCCACTACGGCTATGACGATAAAGGCCGCCTGACCGGCGAACGCCAGACGGTGGAGAACCCGGAGACggg < 1:193008/146‑1 (MQ=255) tCTGATATTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAGGCCACCGCGTGTCGGTCCACTACGGCTATGACGATAAAGGCCGCCTGACCGGCGAACGCCAGACGGTGGAGAACCCGGTGACggg > 1:120970/1‑149 (MQ=255) tCTGATATTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGGGAAGGCCACCGCGTGTCGGTCCACTACGGCTATGACGATAAAGGCCGCCTGACCGGCGAACGCCAGACGGTGGAGAACCCGGTGACggg > 1:120983/1‑149 (MQ=255) tGATATTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAGGCCACCGCGTGTCGGTCCACTACGGCTATGACGATAAAGGCCGCCTGACCGGCGAACGCCAGACGGTGGAGAACCCGGAGACggggg > 1:416365/1‑149 (MQ=255) tGATATTCCCCGGGAACGCCAGATGTCGACTCGCTTAACCACCCTCAACCATACCAGTGAAGGCCACCGCGGGTCGGTCCACTACGGCTATACCGATAAAGGCCGCCTGACCGGCCAACGCCAGGCCGGGCAGAACCCGGAGCgggggg > 2:381389/1‑149 (MQ=37) atatTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAGGCCACCGCGTGTCGGTCCACTACGGCTATGACGATAAAGGCCGCCTGACCGGCGAACGCCAGACGGTGGAGAACCCGGAGACGGGGGaa > 2:328019/1‑149 (MQ=255) atatTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAGGCCACCGCGTGTCGGTCCACTACGGCTATGACGATAAAGGCCGCCTGACCGGCGAACGCCAGACGGTGGAGAACCCGGAGACGGGGGaa < 1:402679/149‑1 (MQ=255) atatTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAGGCCACCGCGTGTCGGTCCACTACGGCTATGACGATAAAGGCCGCCTGACCGGCGAACGCAAGACGGTGGAGAACCTGGAGACGGGGGaa > 1:571102/1‑149 (MQ=255) ccccGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAGGCCACCGCGTGTCGGTCCACTACGGCTATGACGATAAAGGCCGCCTGACCGGCGAACGCCAGACGGTGGAGAACCCGGAGACGGGGGAActgct > 2:20938/1‑149 (MQ=255) cccGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAGGCCACCGCATGTCGGTCCACTACGGCTATGACGATAAAGGCCGCCTGACCGGCGAACGCCAGACCGTGGAGAACCCGGAGACCGGGGAActgctg > 2:548487/1‑149 (MQ=255) | CGCTGTAATGTACGAGCCTGTCGTGAATAACGTCGAGAACCCATCCGTTGCGTTTGTGATTATTTTGTTGACTAAACAGACACCCGTTTCTCTGAAGTAAAATCCCAGACTAAATCATCACATAACCATGACATTTTTCTGATATTCCCCGGTAACGCCAGATGTCGACTCGCTTAACCACCCTCAGCCATACCAGTGAAGGCCACCGCGTGTCGGTCCACTACGGCTATGACGATAAAGGCCGCCTGACCGGCGAACGCCAGACGGTGGAGAACCCGGAGACGGGGGAACTGCTG > NC_000913_3_hsa_pgi/1527729‑1528024 |
Alignment Legend |
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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: ‑ |