Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_pgi | 4,088,091 | G→C | 10.0% | intergenic (+34/+16) | yiiG → / ← frvR | DUF3829 family lipoprotein/putative frv operon regulator; contains a PTS EIIA domain |
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 | 4,088,091 | 0 | G | C | 10.0% | 122.3 / 5.4 | 48 | intergenic (+34/+16) | yiiG/frvR | DUF3829 family lipoprotein/putative frv operon regulator; contains a PTS EIIA domain |
Reads supporting (aligned to +/- strand): ref base G (19/23); new base C (2/3); total (21/27) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.02e-01 |
TAAAGAGCAACTTCAGGACGCAAACTCAAGCTGGATGGTCGAAGACTCTTTCCCGAGAGCATTACGCGAGTACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGTTAACCCGGCAATAATCTCCGCCGGATGCTGACACAATATGCTTGCCAGATAGCTAAATATTTTTAGCTCATGACGCGCATCGGCGG > NC_000913_3_hsa_pgi/4087949‑4088234 | tAAAGAGCAACTTCAGGACGCAAACTCAAGCTGGATGCTCGAAGACTCTTTCCCGAGAGCATTACGCGAGTACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAAGGCAGTGTCGGACGCGGCGCATc > 2:237682/1‑149 (MQ=255) agagTAACTTCAGGACGCAAACTCAAGCTGGATGGACGAAGACTCTTTCCCGAGAGCATTACGCGAGTACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGa < 1:46641/149‑1 (MQ=255) agagCAACTTCAGGACGCAAACTCAAGCTGGATGGTCGAAGACTCTTTCCCGAGAGCATTACGCGAGTACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGa < 2:838389/149‑1 (MQ=255) agCAACTTCAGGACGCAAACTCAAGCTGGATGGTCGAAGACTCTTTCCCGAGAGCATTACGCGAGTACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGCCGCATCCGaca < 2:58600/149‑1 (MQ=255) agCAACTTCAGGACGCAAACTCAAGCTGGATGGTCGAAGACTCTTTCCCGAGAGCATTACGCGAGTACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGCCGCATCCGaca < 2:563284/149‑1 (MQ=255) agCAACTTCAGGACGCAAACTCAAGCTGGATGGTCGAAGACTCTTTCCCGAGAGCATTACGCGAGTACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGCCGCATCCGaca > 1:58600/1‑149 (MQ=255) agCAACTTCAGGACGCAAACTCAAGCTGGATGGTCGAAGACTCTTTCCCGAGAGCATTACGCGAGTACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGCCGCATCCGaca > 1:563284/1‑149 (MQ=255) cTTCAGGACGCAAACTCAAGCTGGTTGGTCGAAGACTCTTTCCCGAGAGCATTACGCGAGTACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTCTTTCCGGATGCAGTGTCGGATGCGGCGCATCCGACACAGtt < 1:240320/149‑1 (MQ=255) cTTCAGGACGCAAACTCAAGCTGGATGGTCGAAGACTCTTTCCCGAGAGCATTACGCGAGTACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGGCACCGtt > 2:828268/1‑149 (MQ=255) tCAGGACGCAAACTCAAGCTGGATGGTCGAAGACTCTTTCCCGAGAGCATTACGCGAGTACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCa < 2:808932/149‑1 (MQ=255) ggACGCAAACTCAAGCTGGATGGTCGAAGACTCTTTCCCGAGAGCATTACGCGAGTACAACGAAATGGTTGATGCCTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCAccc > 2:415920/1‑149 (MQ=255) aaGCTGGATGGTCGAAGACTCTTTCCCGAGAGCATTACGCGAGTACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTaa > 1:720206/1‑149 (MQ=255) cTGGATGGTCGAAGACTCTTTCCCGAGAGCATTACGCGAGTACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTc < 1:769249/149‑1 (MQ=255) gttCGAAGACCCTTTCCCGAGAGCATCACGCGAGTACAACGAAATAGCTGATGACTATAATAGCCTGCGTTAAACGTTTCTCATGATAAATGCAGTGTCGGATGCCGCGCATCCGACACATTTCACCCCTTGTTAAGTAACTCCATaaa < 2:823838/147‑1 (MQ=255) tCGAAGACTCTTTCCCGAGAGCATGACGCAAGTATCGAGATAAAGTTGATGACTATAAAAACCGGCGTTAAACGTTGTTGATGATAAAGCCAGTATCCACTGCGGCGCATCCAACACAATTCACCCCTTGTGCAGTACCTcccgacacg > 2:674076/1‑142 (MQ=255) gAAGACTCTTTCCCGAGAGCATTACGCGAGTACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGcc > 1:104871/1‑149 (MQ=255) ataCTCGTTTCCGAGAGCATTACGCGAGTACAACGAAGTGGTTGATGACTATAATAGCCTGCGTGAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTc < 1:504370/147‑1 (MQ=255) gcccGAGAGCATTACGCGAGTACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGCCGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTg < 1:194844/148‑1 (MQ=255) cccGAGAGCATTACGCGAGTACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGt < 1:602224/149‑1 (MQ=255) aTTACGCGAGTACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGTTAACCCGGc > 1:436968/1‑149 (MQ=255) cgAGTACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACt < 2:640796/112‑1 (MQ=255) cgAGTACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACt > 1:640796/1‑112 (MQ=255) tACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGTTAACCCGGCAATAATCTcc > 1:91694/1‑149 (MQ=255) tACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGTTAACCCGGCAATAATCTcc < 1:932215/149‑1 (MQ=255) tACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGTTAACCCGGCAATAATCTcc > 1:13673/1‑149 (MQ=255) tACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGTTAACCCAGCaataaccccc > 1:14031/1‑144 (MQ=255) tACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAAAGCCGCAGTCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGTTAACCCGGCAATAATCTcc > 1:693842/1‑149 (MQ=255) gAAATGGTGGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAATTGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGTTAACCCGGCAATAATCTCCGCCGGa < 1:332951/149‑1 (MQ=255) aaTGGTTGATGACTATAATGGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCTGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGTTAACCCGGCAATAATCTCCGCCCGAtc < 1:953959/149‑2 (MQ=255) gTTGATGAACATAATAGCAGGCGGTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGTTAACCCGGCAATAATCTCCGCCGGATGCTGa < 1:265556/149‑1 (MQ=255) ttGATGACTATAATAGCCTACGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGTTAACCCGGCACTAACCTCCGCCGGATCCTGac > 2:670117/1‑149 (MQ=255) gtacttaaataGTCTGCGTTAAAAGTTTTTGATGCTAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTGGTGAAGTAACGCCATAAATGCCTCATATCCTGTTAACCCGGCAATAATCTCCGCCGGATGCTGACACaa < 2:228486/142‑1 (MQ=255) tataATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAAc > 1:149593/1‑86 (MQ=255) tataATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAAc < 2:149593/86‑1 (MQ=255) aGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGTTAACCCGGCAATAATCTCCGCCGGATGCTGAAACAATATGCTTGcc > 1:675839/1‑149 (MQ=255) gCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGTTAACCCGGCAATAATCTCCGCCGGATGCTGACACAATATGCTTGCCAGATa < 2:979020/149‑1 (MQ=255) ttAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTAATATCCTGTTAACCCGGCAATAATCTCCGCAGGATGCTGACACAATATGCTTGCCAGATAGCt > 1:334231/1‑149 (MQ=255) aCGTTTCTGATGATAAACGCAGTGTCGGATGGGGCGCATCCGACACACTTCACACCTTAAGAAGTAATTCCATAAAGTCCTCATATCCTGTTAACCCGGCAATAATCTCCGCCGGATGCTGACACAATATGCTTGCCAGATAGCTAAat < 2:110161/149‑1 (MQ=255) gTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGTTAACCCGGCAAAAATCTCCGCCGGATGCTGACACAATATGCTTGCCAGATAGCTAAatat > 1:418765/1‑149 (MQ=255) tttGATGATAAATGCAGTGTCGGATGCGGCGCATCCGTCACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGTTAACCCGGCAATAATCTCCGCCGGATGCTGACACAATATGCTTGCCAGATAGCTAAATAtttt < 1:166156/149‑1 (MQ=255) tgatgaTAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGTTAACCCGGCAATAATCTCCGCCGGATGCTGACACAATATGCTTGCCAGATAGCTAAATATTTTTa < 1:1005204/149‑1 (MQ=255) gatgatAAATGCAGTGTCGGATGCGTCGCATCAGATACAGTTCACCCCACGAGATTCAAGCCCATAAATGCCTCATATCCTGTTAACCCGGCAATAATCTCCGCCGGATGCTGACACAATATGCTTGCCAGATAGCTAAATATTTTTAg < 1:231144/149‑1 (MQ=255) gatAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGTTAACCCGGCAATAATCTCCGCCGGATGCTGACACAATATGCTTGCCAGATAGCTAAATATTTTTAGCTc > 2:685493/1‑149 (MQ=255) tAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGTTAACCCGGCAATAATCTCCGCCGGATGCTGACACAATATGCTTGCCAGATAGCTAAATATTTTTAGCTCAt < 1:395031/149‑1 (MQ=255) gCAGTGTCGGATGCGCCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGTTAACCCGGCAATAATCTCCGCCGGATGCTGACACAATATGCTTGCCAGATAGCTAAATATTTTTAGCTCATGAcgc < 2:443474/149‑1 (MQ=255) gtgtCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGTTAACCCGGCAATAATCTCCGCCGGATGCTGACACAATATGCTTGCCAGATAGCTAAATATTTTTAGCTCATGACGCGCa < 1:415920/149‑1 (MQ=255) ggATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGTTAACCCGGCAATAATCTCCGCCGGATGCTGACACAATATGCTTGCCAGATAGCTAAATATTTTTAACTCATGACGCGCATcggc > 1:913928/1‑149 (MQ=255) aTGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGTTAACCCGGCAATAATCTCCGCCGGATGCTGACACAATATGCTTGCCAGATAGCTAAATATTTTTAGCTCATGACGCGCATcggcgg < 2:104871/149‑1 (MQ=255) | TAAAGAGCAACTTCAGGACGCAAACTCAAGCTGGATGGTCGAAGACTCTTTCCCGAGAGCATTACGCGAGTACAACGAAATGGTTGATGACTATAATAGCCTGCGTTAAACGTTTTTGATGATAAATGCAGTGTCGGATGCGGCGCATCCGACACAGTTCACCCCTTGTGAAGTAACTCCATAAATGCCTCATATCCTGTTAACCCGGCAATAATCTCCGCCGGATGCTGACACAATATGCTTGCCAGATAGCTAAATATTTTTAGCTCATGACGCGCATCGGCGG > NC_000913_3_hsa_pgi/4087949‑4088234 |
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: ‑ |