Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 3,946,309 | C→T | 9.4% | noncoding (2606/2904 nt) | rrlC → | 23S ribosomal RNA of rrnC operon |
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 | 3,946,309 | 0 | C | T | 9.4% | 112.1 / 4.0 | 43 | noncoding (2606/2904 nt) | rrlC | 23S ribosomal RNA of rrnC operon |
Reads supporting (aligned to +/- strand): ref base C (22/16); new base T (2/2); total (25/18) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.09e-01 |
TGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGGCGCTGGAGAACTGAGGGGGGCTGCTCCTAGTACGAGAGGACCGGAG > NC_000913_3_hsa_tpiA/3946160‑3946374 | tGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTc > 1:156017/1‑150 (MQ=32) gATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCg < 4:353707/150‑1 (MQ=32) aTACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCgg > 2:202460/1‑150 (MQ=32) tACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGt < 1:130869/150‑1 (MQ=32) tACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGACAATTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGt > 3:266678/1‑150 (MQ=17) cccccAAGAGTTCACATCGACGGGGAGGTTTGGCACCTCGATGTCGGCTCATCGCATCCTGGAGCTGTAGTCGGTTCCAAGGGTTGGGCTGTTCGCCCATTAAAGCGGTACGCGAGCTGGGTTCAGAACGTCGTGAGACAGTTTGGTccc > 3:149509/3‑150 (MQ=2) cAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATc > 1:281382/1‑150 (MQ=32) aaGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCt > 3:35101/1‑150 (MQ=32) tCATCTCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTg < 3:128215/150‑1 (MQ=17) cATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTgg < 4:120854/150‑1 (MQ=32) atatCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTggg > 2:539490/1‑150 (MQ=32) tCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAATGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGgggc > 3:164730/1‑150 (MQ=17) tCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGgcgc > 1:576069/1‑150 (MQ=32) tCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGgcgc > 2:189450/1‑150 (MQ=32) tCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGgcgc > 2:411148/1‑150 (MQ=32) cGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGGCGCt > 2:495392/1‑150 (MQ=32) cggcggTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGGCGCTGga < 4:250235/150‑1 (MQ=32) gcggTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGGCGGTGgaga > 1:464779/1‑150 (MQ=17) cggTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGGCGCTGGAGaa < 2:80378/150‑1 (MQ=32) ggTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCTGTGGGCGCTGGAGAAc > 3:310924/1‑150 (MQ=17) ggTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGGCGCTGGAGAAc > 3:103844/1‑150 (MQ=32) ggTGTTTGGCACCTCGATGTCAGCTAATCACATCCTGGAGGTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCAATTAAAGTGGTACGCGCGCTGGGTTTAGAACGTCGTGAGACAGTTAGGTCCCTATCTGCCGTGGGCGCTGGAGCAc > 2:455379/1‑150 (MQ=11) tttGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGGCGCTGGAGAACTGAg > 2:107238/1‑150 (MQ=32) ggCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGGCGCTGGAGAACTGAgggg < 4:353130/150‑1 (MQ=32) cTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGGCGCTGGAGAACTGAGGGGGgctg < 3:164481/150‑1 (MQ=32) gTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGGTGGGTTTAGAACGTCGTGAGAACGTTCGGCCCCTACCTGCCGTGGGCGCTGGAGGACTGAGGGGGGCTGCTCCTa > 2:552510/1‑150 (MQ=11) gTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGGCGCTGGAGAACTGAGGGGGGCTGCTCCTa < 3:284356/150‑1 (MQ=32) gTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGGCGCTGGAGAACTGAGGGGGGCTGCTCCTa < 1:124029/150‑1 (MQ=32) gTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGGCGCTGGAGAACTGAGGGGGGCTGCTCCTa < 3:222001/150‑1 (MQ=32) gTCGGCTCATCACACCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGGCGCTGGAGAACTGAGGGGGGCTGCTCCTa < 2:310236/150‑1 (MQ=17) tCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGGCGCTGGAGAACTGAGGGGGGCTGCTCCTAg < 3:729/150‑1 (MQ=32) cGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGGCGCTGGAGAACTGAGGGGGGCTGCCCCTact > 4:125707/1‑148 (MQ=17) ggCTCATCGCATCCTGGAGCTGTAGTCGGTTCCAAGGGTTGGGCTGTTCGCCCATTAAAGCGGTACGCGAGCTGGGTTCAGAACGTCGTGAGACAGTTTGGTCCCTATCTGTTGTGGGCGTTGGAAAATTGAAAAGAGCTGTTCCTAGTa < 1:432030/150‑1 (MQ=2) ggCTCATCGCATCCTGGAGCTGTAGTCGGTTCCAAGGGTTGGGCTGTTCGCCCATTAAAGCGGTACGCGAGCTGGGTTCAGAACGTCGTGAGACAGTTTGGTCCCTATCTGTTGTGGGCGTTGGAAAATTGAAAAGAGCTGTTCCTAGTa < 1:432026/150‑1 (MQ=2) gCTCATCACATCCTGTAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCCGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTTGGCGCTTGAGAACTGAGGTGAGCTGCTCCTAGTAc < 4:325484/150‑1 (MQ=11) gCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGGCGCTGGAGAACTGAGGGGGGCTGCTCCTAGTAc < 4:233772/150‑1 (MQ=32) tcatcaCATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGGCGCTGGAGAACTGAGGGGGGCTGCTCCTAGTACga > 3:153445/1‑150 (MQ=32) tcatcaCATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGGCGCTGGAGAACTGAGGGGGGCTGCTCCTAGTACga > 1:150844/1‑150 (MQ=32) catcaCATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGGCGCTGGAGAACTGAGGGGGGCTGCTCCTAGTACgag < 1:444058/150‑1 (MQ=32) acaTCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGGCGCTGGAGAACTGAGGGGGGCTGCTCCTAGTACGAGAGGa > 2:137039/1‑150 (MQ=32) caTCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGGCGCTGGAGAACTGAGGGGGGCTGCTCCTAGTACGAGAGGAc > 3:195635/1‑150 (MQ=32) cTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGGCGCTGGAGAACTGAGGGGGGCTGCTCCTAGTACGAGAGGACCGGa > 4:238114/1‑150 (MQ=32) cTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGCGCGGCATTGAAAGTGGTACGCGAGCGGGGTTTAGAACGTCGTGAAACAGTTCGGTCCCTATCTGCCGTGGGCGCTGGAGAACTGAGGGGGGCTGCTCCTAGTACGAGAGGACCGGa > 2:530517/1‑150 (MQ=11) tGGATCTGTAGTCGGTTCCAAGGGTTGGGCTGTCCGCCCATTAAAGCGGTACGCGAGCTGGGTTCAGAACGTCGCGAGACCGTTTGGCCCCTACCTGTTGTGAGCGTTGGAAAATTGAAAAGAGCTGTTCCTAGTACGAGAGGACCGGaa > 4:265079/1‑149 (MQ=2) | TGATACCGCCCAAGAGTTCATATCGACGGCGGTGTTTGGCACCTCGATGTCGGCTCATCACATCCTGGAGCTGAAGTAGGTCCCAAGGGTATGGCTGTTCGCCATTTAAAGTGGTACGCGAGCTGGGTTTAGAACGTCGTGAGACAGTTCGGTCCCTATCTGCCGTGGGCGCTGGAGAACTGAGGGGGGCTGCTCCTAGTACGAGAGGACCGGAG > NC_000913_3_hsa_tpiA/3946160‑3946374 |
Alignment Legend |
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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: ‑ |