Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 1,743,514 | C→T | 27.0% | L20F (CTC→TTC) | mdtK → | multidrug efflux system transporter |
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 | 1,743,514 | 0 | C | T | 27.0% | 56.4 / 23.8 | 37 | L20F (CTC→TTC) | mdtK | multidrug efflux system transporter |
Reads supporting (aligned to +/- strand): ref base C (9/18); new base T (5/5); total (14/23) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 4.54e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 4.52e-01 |
ACTGAATTTCCCCTGCTTCTTCTTTTTGCTGCCCATTCAGGCGGCTTTTTAGTCTCTCATATAACTACAAATAAAAGGTGTTCACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTCTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTGATGGCGGGCGGCTATAGTGCCACCGACATGGCGGCGGTCGCTATCGGTACTTCTATCTGGCTTCCGGCGATCCTCTTTGGTCACGGACTGCTGCTGGCA > NC_000913_3_hsa_tpiA/1743372‑1743657 | aCTGAATTTCCCCTGCTTCTTCTTTTTGCTGCCCATTCAGGCGGCTTTTTAGTCTGTCATATAACTACAAATAAAAGGTGTTCACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTACCAATCCCGGTGATTCTCGCGCa > 3:321347/1‑150 (MQ=255) ttCCCCTGCTTCTTCTTTTTGCTGCCCATTCAGGCGGCTTTTTAGTCTCTCATATAACTACAAATAAAAGGTGTTCACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTCTCGCGCAAATCGcc < 3:321900/150‑1 (MQ=255) tcttcttTTTGCTGCCCATTCAGGCGGCTTTTTAGTCTCTCATATAACTACAAATAAAAGGTGTTCACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTCTCGCGCAAATCGCCCAAACTGCGa < 1:203605/150‑1 (MQ=255) tcttcttTTTGCTGCCCATTCAGGCGGCTTTTTAGTCTCTCATATAACTACAAATAAAAGGTGTTCACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTCTCGCGCAAATCGCCCAAACTGCGa < 2:541555/150‑1 (MQ=255) cttcttTTTGCTGCCCATTCAGGCGGCTTTTTAGTCTCTCATATAACTACAAATAAAAGGTGTTCACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTCTCGCGCAAATCGCCCAAACTGCGAt > 3:209438/1‑150 (MQ=255) ttcttTTTGCTGCCCATTCAGGCGGCTTTTTAGTCTCTCATATAACTACAAATAAAAGGTGTTCACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTTTCGCGCAAATCGCCCAAACTGCGATg > 4:98907/1‑150 (MQ=255) tttttGCTGCCCATTCAGGCGGCTTTTTAGTCTCTCATATAACTACAAATAAAAGGTGTTCACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTTTCGCGCAAATCGCCCAAACTGCGATGGGt > 3:154726/1‑150 (MQ=255) tttGCTGCCCATTCAGGCGGCTTTTTAGTCTCTCATATAACTACAAATAAAAGGTGTTCACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTTTCGCGCAAATCGCCCAAACTGCGATGGGttt > 2:84975/1‑150 (MQ=255) ttGCTGCCCATTCAGGCGGCTTTTTAGTCTCTCATATAACTACAAATAAAAGGTGTTCACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTTTCGCGCAAATCGCCCAAACTGCGATGGGtttt < 1:439563/150‑1 (MQ=255) gctgcCCATTCAGGCGGCTTTTTAGTCTCTCATATAACTACAAATAAAAGGTGTTCACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTCTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGt < 3:135877/150‑1 (MQ=255) cAGGCGGCTTTTTAGTCTCTCATATAACTACAAATAAAAGGTGTTCACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTCTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTg < 1:119010/150‑1 (MQ=255) cggcTTTTTAGTCTCTCATATAACTACAAATAAAAGGTGTTCACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTCTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTGATgg > 3:107538/1‑150 (MQ=255) gcTTTTTAGTCTCTCATATAACTACAAATAAAAGGTGTTCACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTCTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACAGTGATggcg > 3:242379/1‑150 (MQ=255) tttttAGTCTCTCATATAACTACAAATAAAAGGTGTTCACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTCTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTGATggcggg > 2:477695/1‑150 (MQ=255) tttttAGACTCTCATTTCACTACAAAGAATAGGTGTTCAGGTGCAGAAGTATATCCGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGTTTCTCGCGCAAGTCGCACCAACTACGATGGGTTTTGTCGATACCGTGATggcggg < 4:23764/150‑1 (MQ=255) ttAGTCTCTCATATAACTACAAATAAAAGGTGTTCACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTCTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTGATGgcgggcgg < 4:157313/150‑1 (MQ=255) ctctcATATAACTACAAATAAAAGGTGTTCACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTTTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTGATGGCGGGCGGCtata < 4:154726/150‑1 (MQ=255) taACTACAAATAAAAGGTGTTCACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTCTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTGATGGCGGGCGGCTATAGTGCCAcc < 4:84872/150‑1 (MQ=255) aaaTAAAAGGTGTTCACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTCTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTGATGGCGGGCGGCTATAGTGCCACCGACATgg < 3:292756/150‑1 (MQ=255) aaaaGGTGTTCACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTTTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTGATGGCGGGCGGCTATAGTGCCACCGACATggcggc > 3:264051/1‑150 (MQ=255) aaaaGGTGTTCACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTCTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTGATGGCGGGCGGCTATAGTGCCACCGACATggcggc < 1:131114/150‑1 (MQ=255) ttCACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCACTACAGGTGATTCTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATCCCGTGCTGGCGGGCGGCTATAGTGCCACCGACATGGCGGCGGTCGCtc > 4:75594/1‑149 (MQ=255) cACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGAGTCTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTGATGGCGGGCGGCTATAGTGCCACCGACATGGCGGCGGTCGCTATc < 2:185675/150‑1 (MQ=255) aCGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGTTGATTTTCTCGCAAATCGCCCAAACTGCGATGTGTTTTGTCGATACCGTGATGGCGGGCGGCTATAGTGCCCCCGACATGCCGGCGGTCGCTATCg > 3:37186/1‑150 (MQ=255) aCGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTTTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTGATGGCGGGCGGCTATAGTGCCACCGACATGGCGGCGGTCGCTATCg < 4:295369/150‑1 (MQ=255) aCGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTCTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTGATGGCGGGCGGCTATAGTGCCACCGACATGGCGGCGGTCGCTATCg < 4:387075/150‑1 (MQ=255) tGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTCTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTGATGGCGGGCGGCTATAGTGCCACCGACATGGCGGCGGTCGCTATCGGTa < 4:367209/150‑1 (MQ=255) aGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTTTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTGATGGCGGGCGGCTATAGTGCCACCGACATGGCGGCGGTCGCTATCGGTACtt < 1:84975/150‑1 (MQ=255) aGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTCTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTGATGGCGGGCGGCTATAGTGCCACCGACATGGCGGCGGTCGCTATCGGTACtt > 1:517205/1‑150 (MQ=255) aGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTCTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTGATGGCGGGCGGCTATAGTGCCACCGACATGGCGGCGGTCGCTATCGGTACtt < 1:31597/150‑1 (MQ=255) atatCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTTTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTGATGGCGGGCGGCTATAGTGCCACCGACATGGCGGCGGTCGCTATCGGTACTTCTATCt < 2:412664/150‑1 (MQ=255) tattgGCATTAGCAATCCCGGTGATTCTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATCCCGTGATGGCGGGCGGCTATAGTGCCCCCGACATGGCGGAGGTCGCTATCGGTACTTCTATCTGGCTTCCGGCGATCCTCTTTg < 2:591080/150‑1 (MQ=255) tattaGCATTAGCAATCCCGGTGATTCTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTGATGGCGGGCGGCTATAGTGCCACCGACATGGCGGCGGTCGCTATCGGTACTTCTATCTGGCTTCCGGCGATCCTCTTTg < 1:371302/150‑1 (MQ=255) agcattagcaATCCCGGTGATTCTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTGATGGCGGGCGGCTATAGTGCCACCGACATGGCGGCGGTCGCTATCGGTACTTCTATCTGGCTTCCGGCGATCCTCTTTGGTCa < 1:423802/150‑1 (MQ=255) ttagcaATCCCGGTGATTCTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTGATGGCGGGCGGCTATAGTGCCACCGACATGGCGGCGGTCGCTATCGGTACTTCTATCTGGCTTCCGGCGATCCTCTTTGGTCACGGa > 1:35687/1‑150 (MQ=255) gcaATCCCGGTGATTCTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTGATGGCGGGCGGCTATAGTGCCACCGACATGGCGGCGGTCGCTATCGGTACTTCTATCTGGCTTCCGGCGATCCTCTTTGGTCACGGActg > 2:33888/1‑150 (MQ=255) gTGATTCTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTGATGGCGGGCGGCTATAGTGCCACCGACATGGCGGCGGTCGCTATCGGTACTTCTATCTGGCTTCCGGCGATCCTCTTTGGTCACGGACTGCTGCTGGCa < 1:389648/150‑1 (MQ=255) | ACTGAATTTCCCCTGCTTCTTCTTTTTGCTGCCCATTCAGGCGGCTTTTTAGTCTCTCATATAACTACAAATAAAAGGTGTTCACGTGCAGAAGTATATCAGTGAAGCGCGTCTGTTATTAGCATTAGCAATCCCGGTGATTCTCGCGCAAATCGCCCAAACTGCGATGGGTTTTGTCGATACCGTGATGGCGGGCGGCTATAGTGCCACCGACATGGCGGCGGTCGCTATCGGTACTTCTATCTGGCTTCCGGCGATCCTCTTTGGTCACGGACTGCTGCTGGCA > NC_000913_3_hsa_tpiA/1743372‑1743657 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |