Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_pgi | 2,555,718 | G→A | 9.7% | A4V (GCA→GTA) | eutK ← | putative ethanol utilization carboxysome structural 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_pgi | 2,555,718 | 0 | G | A | 9.7% | 108.3 / 2.0 | 48 | A4V (GCA→GTA) | eutK | putative ethanol utilization carboxysome structural protein |
Reads supporting (aligned to +/- strand): ref base G (22/21); new base A (3/2); total (25/23) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.20e-01 |
GCCAGATCGCCTTCCACCACCAGCGTTAAGCGACCAGGGTCAAGCACTTCGTGACTGAGCAGACGAACGTTAGCTGCTTTGAGCATGGCATCCGCTGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGCATCGGTAAAGGCGTTACAGGCTGCTTTACACGCTGCCTGGCTACCGGTTAAAAATGCTGCCGAGTAGTTGGTTTCAGACGGT > NC_000913_3_hsa_pgi/2555577‑2555864 | gccCGATCGCCTTCCACTGCCCGCGTTAAGCGACCAGGGTCAAGCACTTCGTGACTGAGCAGACGAACGTTAGCTGCTTTGAGCATGGCATCCGCTGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGat < 2:606433/149‑1 (MQ=255) ccAGATCGCCTTCCACCACCAGCGTTAAGCGACCAGGGGCAGGCACTTCGTGACTAAGCAGCCGAACGTTAGCTGCTTTGAGCCTGCAATCCGCTGCATCTATCCCTGCGACCATGCCGCCCCCCTCCAGCAATGCCAGTGCATTAatc > 2:543405/1‑149 (MQ=255) gATCGCTTTCCACCAACAGCGTTAAGCGACCAGGGTCAAGCACTTCGTGACTGAGCAGACGAACGTTAGCTGCTTTGAGCATTGCACCCGCTGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGctcatc < 2:81088/149‑1 (MQ=255) gCCTTCCACCACCAGCGTTAAGCGACCAGGGTCAAGCACTTCGTGACGGAGAAGACGAACGTTAGCGGCTTTGAGCATGGCATCCGCTCCATCTATCGCGGCTACCAGTCCGTCCACTTCCAGCACTCCCAGTACATTGatccgcgaca > 2:559332/1‑142 (MQ=255) ccTTCCACCCCCAGCGTTAAGCCACCAGGGTCAAGCACTTCGTGACTGAGCAGACGAACGTTAGCTGCTTTGAGCATGGCATCCGCTGCACCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCaa < 2:417410/149‑1 (MQ=255) caccatcaGCGTTAAGCGACCAGGGACAAGCACTTCGTGACTGAGCAGACGAACGTTAGCTGCTTTGAGCATGGCATCCGCTGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTcc < 1:211946/149‑1 (MQ=255) ccaGCGTTAAGCGACCAGGGTCAAGCACTTCGTGACTGAGCAGACGAACGTTAGCTGCTTTGAGCATGGCATCCGCTGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTac < 2:257429/149‑1 (MQ=255) cgtccAGGGTCAAGCACTTCGTGACTGAGCAGACGAACGTTAGCTGCTTTGAGCATGGCATCCGCTGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCtggat < 2:626666/146‑1 (MQ=255) gACCAGGGTCAAGCACTTCGTGACTGAGCAGACGAACGTCAGCTGCTTTGAGCATGGCATCCGCGGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCtggatt < 2:532849/149‑1 (MQ=255) gACCAGGGTCAAGCACTTCGGGACTGAGCATACGAACCTTAGCTGCTTTCAGCATGGCATGCGCCGCATCTATCGCAACGACCATGCCATCCACTTCCAGCAATCCCAATGCATTGATCATCGGCAACCTCCCTTAC‑GCACGCtggatt > 2:201913/1‑149 (MQ=255) ggTCAAGCACTTCGTGACTGAGCAGACGAACGTTAGCTGCTTTGAGCATGGCATCCGCTCCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCCACCTCCGTTAC‑CCACACTGGATTGGATTa > 2:308310/1‑149 (MQ=255) cAAGCGCTTCTTGACTGGGCAGACGCACATTAGCTGCTTTGAGCATGGCATCCGCCGCATCTATCGCGGCGACCAGGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTAcgc < 1:120367/149‑1 (MQ=255) aaGCACTTCGTGACTGAGCAGACGAACGTTAGCTGCTTTGAGCATGGCATCCGCTGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCAACGGGGACCTCCGTTAC‑GCACGCTGGATGGGATTAcgcg > 1:182903/1‑149 (MQ=255) aCTTCGTGACTGAGCAGACGAACGTTAGCTGCTTTGAGCATGGCATCCGCTGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGAt < 2:466022/149‑1 (MQ=255) gACTGAGCAGACGAACGTTAGCTGCTTTGAGCATGGCATCCGCTGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGCTTGGATTACGCGTGATTTCCCGc > 1:561600/1‑149 (MQ=255) aCTGAGCAGACGAACGTTAGCTGCTTTGAGCATGGCATCCGCTGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCa < 1:607113/149‑1 (MQ=255) aGCAGACGAACGTTAGCTGCTTTGAGCATGGCATCCGCTGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGc > 1:617913/1‑149 (MQ=255) gAACGTTAGCTGCTTTGAGCATGGCATCCGCTGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTACATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGCATCGGTa > 2:241331/1‑149 (MQ=255) gAACGTTAGCTGCTTTGAGCATGGCATCCGCTGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTACATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGCATCGGTa > 2:572131/1‑149 (MQ=255) gAACGTTAGCTGCTTTGAGCATGGCATCAGCTGTTTGCAGCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCAGTGCATCGGtg > 1:325559/1‑148 (MQ=255) cGTTAGCTGCTTTGAGCATGGCATCCGCTGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGCTTGGATTACGCGCGATTTACAGCACTGCATCGGTaagg > 1:543342/1‑147 (MQ=255) ctgccTTGAGCATGGCATCCGATACAACTAGCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATGGATCATCGGCAACCGCCGTTAG‑GCACGCTGGATTGGATTACGGGCGATTTCCAGCCCGGCCTCGGTAAAGGGGttc > 2:506882/1‑148 (MQ=255) gctTTGAGCATGGCATCCGCTGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGCATCGGTAAAGGCGTTACa > 1:173710/1‑149 (MQ=255) ctTTGAGCATGGCATCCGCTGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGCATCGGTCAAGGCGTTACAg > 1:143226/1‑149 (MQ=255) tttGAGCATGGCATCCCCTGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGCATCGGTAAAGGCGTTACAgg < 1:142089/149‑1 (MQ=255) aGCATGGCATCCGCTGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCCGGATTGGATTACGCGCGAGTTCCCGCACTCCATCGGTAAAGGCGTTCCCGgctgc > 2:266074/1‑149 (MQ=255) aGCATGGCATCCGCTGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGAACATCGGCAACCTCCGTTAC‑ACACGCAGGATTGGATTACGCCCGATTTCCAGCACTGCATCGCTAAAGCCGTCACAGcctgc > 2:266080/1‑149 (MQ=255) gCATGGCATCCGCTGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCGGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATCTCCAGCACTGCATCGGTAAAGACGTAACACgccgct > 2:350282/1‑149 (MQ=255) cATGGCATCCGCCGCATCTATCGCGGCGACCAGGCCGTCCACTTCCAGCAATCCCCATGCATTGCTCGTCGGCAACCTCCGTTAC‑GCACCCTGGATTGGATTACGCCCGATTTGCACCCCTACACCGGTAACGGCGTTACACGCTCCtt > 2:224454/1‑149 (MQ=255) tCCGCTGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGCATCGGCAAAGGCGTTACAGGCTGCTTTACCCGc > 2:297496/1‑149 (MQ=255) gCTGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGCATCGGTAAAGGCGTTACAGGCTGCTTTACACGCTGc < 1:482014/149‑1 (MQ=255) gCTGCATCTATCGCGGCGACCATGCCGTCCACTTACAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGCATCGGTAAAGGCGTTCCAGGCTGCTTTACACGCTGc > 2:122567/1‑149 (MQ=255) tCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTACATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGCATCGGTAAAGGCGTTACAGGCTGCTTTACACGCTGCCTGGCt < 1:572131/149‑1 (MQ=255) tCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTACATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGCATCGGTAAAGGCGTTACAGGCTGCTTTACACGCTGCCTGGCt < 1:241331/149‑1 (MQ=255) tctCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGTAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGCATCGGTAAAGGCGTTACAGGCTGCTTTACACGCTGCCTGGCTAc < 1:652841/147‑1 (MQ=255) tCGCGGCGACCGTGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGCATCGGTAAAGGCGTTACAGGCTGCTTTACACGCTGCCTGGCTACCg > 1:408182/1‑149 (MQ=255) tGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGCATCGGTAAAGGCGTTACAGGCTGCTTTACACGCTGCCTGGCTACCGGTTAAAAAtgct > 1:572253/1‑149 (MQ=255) gtccGGCCACTTCCAGCAATCCCAGGGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGCATCGGTAAAGGCGTTACAGGCTGCTTTACACGCTGCCTGGCTACCGGTTAAAAAtgct < 2:406650/147‑1 (MQ=255) ccGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGCATCGGTAAAGGCGTTACAGGCTGCTTTACACGCTGCCTGGCTACCGGTTAAAAAtgctgc < 2:408182/149‑1 (MQ=255) tCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGCATCGGTAAAGGCGTTACAGGCTGCTTTACACGCTGCCTGGCTACCGGTTACAAATGCTGCCGa < 2:228347/149‑1 (MQ=255) tCCACTTCCAGCAATCCCAGGGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGCATCGGTAAAGGCGTTACAGGCTGCTTTACACGCTGCCTGGCTACCGGTTATTAATGCTGCCGa < 2:228194/149‑1 (MQ=255) aCTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGCATCGGTAAAGGCGTTACAGGCTGCTTTACACGCTGCCTGGCTACCGGTTAAAAATGCTGCCGagta > 1:453791/1‑149 (MQ=255) ccAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTACCAGCACTGCATCGGTAAAGGCGTTACAGGCTGCTTTACACGCTGCCTGGCTACCGGTTAAAAATGCTGCCGcgtagtag > 1:593229/1‑147 (MQ=255) aGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGCATCGGTAAAGGCGTTACCGGCTGCTTTACACGCTGCCTGGCTACCGGTTAAAAATGCTGCCGAGTAGTTGGt > 1:125270/1‑149 (MQ=255) aGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGCATCGGTAAAGGCGTTACAGGCTGCTTTACACGCTGCCTGGCTACCGGTTAAAAATGCTGCCGAGTAGTTGGt < 1:590122/149‑1 (MQ=255) accccAGTGCATTGATCATCGGCAACCTCCGTTACGGCAC‑AGCGAGTGGATTACGCGCGATTTCCAGCACTGCATCGGTAAAGGCGTTACAGGCTGCTTTACACGCTGCCTGGCTACCGGTTAAAAATGCTGCCGAGTAGTTGGTTTCa < 1:348279/147‑1 (MQ=255) aGTGCATTGATCATCGGCTACCTCCGTTAC‑GCACGGTGGATTGGATTACGCGCGATTTCCAGCACTGCATCGGTAAAGGCGTTACAGGCTGCTTTACCCGCTGCCTGGCTATCGGTTAAAAATGCTGCCGAGTAGTTGGTTTCAGACgg < 2:141533/149‑1 (MQ=255) gTGCATTGATCATCGGCCACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGTATCGGTAAAGGCGTTACAGGCTGCTTTACACGCTGCCAGGCTACCGGTTAAAAATGCTGCCGAGTAGTTGGTTTCAGACGGt < 1:5521/149‑1 (MQ=255) | GCCAGATCGCCTTCCACCACCAGCGTTAAGCGACCAGGGTCAAGCACTTCGTGACTGAGCAGACGAACGTTAGCTGCTTTGAGCATGGCATCCGCTGCATCTATCGCGGCGACCATGCCGTCCACTTCCAGCAATCCCAGTGCATTGATCATCGGCAACCTCCGTTAC‑GCACGCTGGATTGGATTACGCGCGATTTCCAGCACTGCATCGGTAAAGGCGTTACAGGCTGCTTTACACGCTGCCTGGCTACCGGTTAAAAATGCTGCCGAGTAGTTGGTTTCAGACGGT > NC_000913_3_hsa_pgi/2555577‑2555864 |
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: ‑ |