Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 197,968 | G→A | 8.5% | S14N (AGC→AAC) | bamA → | BamABCDE complex OM biogenesis outer membrane pore‑forming assembly factor |
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 | 197,968 | 0 | G | A | 8.5% | 119.9 / 3.8 | 47 | S14N (AGC→AAC) | bamA | BamABCDE complex OM biogenesis outer membrane pore‑forming assembly factor |
Reads supporting (aligned to +/- strand): ref base G (22/21); new base A (2/2); total (24/23) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 3.63e-01 |
TTGTTATCGCATTGGCTCGATTCTGCTGGTGCTGTTAATGGGGCTTGCACTTTTCAATGATTTCTCTCGGTTATGAGAGTTAGTTAGGAAGAACGCATAATAACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGTTGGTGCGGCCCTCCTCAGTATGCCGGTGCGCACAGGCGACACGGTTAATGATGAAGATATCAGTAATACCATT > NC_000913_3_hsa_tpiA/197823‑198116 | tttttATCGCATTGGCTCGATTCTGCTGGTGCTGTTAATGGGGCTTGCACTTTTCAATGATTTCTCTCGGTTATGAGAGTTAGTTAGGAAGAACGTATAATAACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTagcag < 1:475744/146‑1 (MQ=255) aTCGCATTGGCTCGATTCTGCTGGTGCTGTTAATGGGGCTTGCGCTTTTCAATGATTTCTCTCGGTTATGAGAGTTAGTTAGGAAGAACGCATAATAACGACGGCGATGTAAAAGTTGCTCATAGCGTCGATGCTGTTTAGCAGCGCCa > 1:552658/1‑149 (MQ=255) tCGCATTGGCTCGATTCTGCTGGTGCTGTTAATGGGGCTTGCACTTTTCAATGATTTCTCTCGGTTATGAGTGGTAGTTAGGAAGAACGCATAATAACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTggcagctgcca > 2:256904/1‑144 (MQ=255) atcgttCGATTCGGCTGGTGCGGTGAATGGGGCTTGTACTTTTCAATGATTTCTCTCGGTTATGAGAGTTAGTTAGGAAGAACGCATAATAACGGTGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGtat < 2:545814/144‑1 (MQ=255) ggttCTGCTGGTGCTGTTAGTGGTGGTTGCACTTTTCAATGATTTCTCTCGGTTAGGAGAGTTAGTTAGCAAGAACGCATAATAACGATGGCGATGAAAAAGTTGCTCAGGGCGGCGCTGCTGTTGAGTAGTGCCACCGTATACGGTGc < 2:369402/147‑1 (MQ=255) gATTCTGCTGGTGCTGTTAATGGGGCTTGCACTTTTCAATGATTTCTCTCGGTTATGAGAGTTAGTTAGGAAGAACGCATAATAACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGc > 1:239875/1‑149 (MQ=255) ttCTGCTGGTGCTGTTAATGGGGCTTGCACTTTTCAATGATTTCTCTCGGTTATGAGAGGTAGTTAGGAAGAACGCATAATAACGATGGCGAGGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTg < 1:67293/149‑1 (MQ=255) tgctgGTGCTGTTAATGGGGCTTGCACTTTTCAATGATTTCTCTCGGTTATGAGAGTTAGTTAGGAAGAACGCATAATAACGATGGCGATGACCAAGACCCAGCAAGCGGCGCTGCTGTTTAGCAGCGGCACCGAATACGGTGCTGAAg > 1:529904/1‑149 (MQ=255) tgctgGTGCTGTTAATGGGGCTTGCACTTTTCAATGATTTCTCTCGGTTATGAGAGTTAGTTAGGAAGAACGCATAATAACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAg > 2:639778/1‑149 (MQ=255) aTGGGGCTTGCACTTTTCAATGATTTCTCTCGGTTATGAGAGTTAGTTAGGAAGAACGCATAATAACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTGTACGGTGCTGCAGGGTTCGTAGTGaaa > 2:533967/1‑149 (MQ=255) aTGGGGCTTGCACTTTTCAATGATTTCTCTCGGTTATGAGAGTTAGTTAGGAAGAACGCATAATAACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGaaa < 2:584188/149‑1 (MQ=255) aTGGGGCTTGCACTTTTCAATGATTTCTCTCGGTTATGAGAGTTAGTTAGGAAGAACGCATAATAACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGaaa < 2:287602/149‑1 (MQ=255) ttGCACTTTTCAATGATTTCTCTCGGTTATGAGAGTTAGTTAGGAAGAACGCATAATATCGATGGCGATGAAAAAGTTGCTCATAGCATCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTc < 2:634420/149‑1 (MQ=255) aCTTTTCAATGATTTCTCTCGGTTATGAGAGTTAGTTAGGAAGAACGCATAATAACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCAttt > 1:146176/1‑149 (MQ=255) ttCAATGATTTCTGTCGGTTATGAGAGTTAGTTAGGAAGAACGCGTAATGACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGaa < 2:699246/149‑1 (MQ=255) ttCAATGATTTCTCTCAGTTATGATAGTTAGTTAGGAAGAACGCATAATAACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGaa < 1:232749/149‑1 (MQ=255) aaTGATTTCTCTCGGTTATGAGAGTTAGTTAGGAAGAACGCATAATAACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAACAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGc > 2:722761/1‑149 (MQ=255) aaTGATTTCTCTCGGTTATGAGAGTTAGTTAGGAAGAACGCATAATAACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAACAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGc > 2:722765/1‑149 (MQ=255) aaTGATTTCTCTCGGTTATGAGAGTTAGTTAGGAAGAACGCATAATAACGATGACGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGc > 1:476375/1‑149 (MQ=255) aTGATTTCTCTCGGTTATGAGAGTTAGTTAGGAAGAACGCATAATAACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGcc > 1:471596/1‑149 (MQ=255) tttCTCTCGGTTATGAGAGTTAGTTAGGAAGAACGAATAATAACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCa < 1:210882/149‑1 (MQ=255) tctcGGTTATGAGAGTTAGTTAGGAAGAACGCATAATAACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCgt > 2:481660/1‑149 (MQ=255) tctcGGTTATGAGAGTTAGTTAGGAAGAACGCATAATAACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCgt > 1:30843/1‑149 (MQ=255) gagaGTTAGTTAGGAAGAACGCATAATAACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATATCGAAGGCCTTCAGCGTGTCGCCGTTg > 1:520002/1‑149 (MQ=255) gagaGTTAGTTAGGAAGAACGCATAATAACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGGTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGTTg > 1:7148/1‑149 (MQ=255) cagagTTAGTTAGGAAGAACGCATAATCATGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGTTg < 1:359031/148‑1 (MQ=255) tagttagGAAGAACGCATAATAACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGTTGGTGCgg < 2:146176/149‑1 (MQ=255) ttagGAAGAACGCATAATAACGATGGCTATTGAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGTTGGTGCGGccc < 2:226134/149‑1 (MQ=255) gaagaaCGCATAATAACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGTTGGTGCGGCcgtcct > 1:216551/1‑149 (MQ=255) gaaAGCATAATAACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGTTGGTGCGGCCCTCCTCAg > 2:370466/1‑149 (MQ=255) aCGCATAATAACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAATAACTTCAGCGTGTCGCCGTTGGTGCGGCCATCCTCAgac > 2:137965/1‑147 (MQ=255) aCGCACAACAACAAGCGCGATGAAAAAGTTGCTCATAGCGCCGCTGCTGTTTGGCAGCGCCACCGTTGACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATGTCGAAGGCCTTCAGCGTGTCGCCGTTGGTGCGGCCCTCCTCAGTa < 2:259555/149‑1 (MQ=255) taataaCGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTCCAGAGTGTCGCCGTTGCTGTGGCCCTCCTCCTTATGCCg < 2:612945/149‑1 (MQ=255) aaCGATGGCGATGAAAAGGTTGCTCATAGCGTCGGCGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGATGGTGCGGCGCTCCTCAGTATGCCGGTgc < 2:447221/149‑1 (MQ=255) ggCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGTTGGTTCGGCCCTCCTCAGTATGCCGGTGCGCACAg > 1:27089/1‑149 (MQ=255) ggCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAACAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGTTGGTGCGGCCCTCCTCAGTATGCCGGTGCGCACAg < 1:722765/149‑1 (MQ=255) ggCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAACAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGTTGGTGCGGCCCTCCTCAGTATGCCGGTGCGCACAg < 1:722761/149‑1 (MQ=255) gCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGTTGGTGCGGCCCTCCTCAGTATGACGGTGCGCACAgg > 2:438713/1‑149 (MQ=255) gATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGTTGGTGCGGCCCTCCTCAGTATGCCGGTGCGCACAGGCg > 1:340049/1‑149 (MQ=255) aaaaGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGTTGGTGCGGCCCTCCTCAGTATGCCGGTGCGCACAGGCGACACg < 1:109262/149‑1 (MQ=255) aaaaGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGTTGGTGCGGCCCTCCTCAGTATGCCGGTGCGCACAGGCGACACg > 1:359304/1‑149 (MQ=255) atgttgttCGTAGCGGCGGTGCGGTTTAGCAGCGGCACCGTATACGGTGCTGAAGGGTTCGGAGCGAAAGATATTCATCTCGAAGCCCTTCCGCGTGTCGCCGTTGGTCAGGCCCTCCTCAGCATGCCGGTGCGCACAGGCGACACggc < 2:473192/147‑2 (MQ=255) gTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGTTGGTGCGGCCCTCCTCAGTATGCCGGTGCGCACAGGCGGCACGGTTa > 2:481663/1‑149 (MQ=255) ttGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGTTGGTGCGGCCCTCCTCAGTATGCCGGTGCGCACAGGCGACACGGTTaa > 2:291013/1‑149 (MQ=255) cTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGTTGGTGCGGCCCTCCTCAGTATGCCGGTGCGCACAGGCGACACGGTTAatga < 2:442109/149‑1 (MQ=255) ctgctgTTTAGCAGCGCCTCCGTTGACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGTTGGTGCGGCCCTCCTCAGTATGCCGGTGCGCACAGGCGACACGGTTAATGATGAAGATATCAg < 1:495572/149‑1 (MQ=255) tgctgTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGTTGGTGCGGCCCTCCTCAGCATACCATTGCGCACAGGCGACACGGTTAATGATGAAGATATCAGt > 1:681684/1‑149 (MQ=255) gctgTCTAGCAGCGCTACCGTATACGGTGTTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGTTGGTGCGGCCCTCCTCAGTATGCCGGTGCGCACAGGCGACACGGTTAATGATGAAGATATCAGTa < 1:308881/149‑1 (MQ=255) tttAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGTTGGTGCGGCCCTTCTCAGTATGCCGGTGCGCACAGGCGACACGGTTAATGATGAAGATATCAGTAATAc < 2:236126/149‑1 (MQ=255) gcagcGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGTTGGTGCGGCCCTCCTCAGTATGCCGGTGCGCACAGGCGACACGGTTAATGATGAAGATATCAGTAATACCAtt > 1:51843/1‑149 (MQ=255) | TTGTTATCGCATTGGCTCGATTCTGCTGGTGCTGTTAATGGGGCTTGCACTTTTCAATGATTTCTCTCGGTTATGAGAGTTAGTTAGGAAGAACGCATAATAACGATGGCGATGAAAAAGTTGCTCATAGCGTCGCTGCTGTTTAGCAGCGCCACCGTATACGGTGCTGAAGGGTTCGTAGTGAAAGATATTCATTTCGAAGGCCTTCAGCGTGTCGCCGTTGGTGCGGCCCTCCTCAGTATGCCGGTGCGCACAGGCGACACGGTTAATGATGAAGATATCAGTAATACCATT > NC_000913_3_hsa_tpiA/197823‑198116 |
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: ‑ |