Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_pgi 3,560,455:1 +G 100% intergenic (‑2/+1) glpR ← / ← glpR pseudogene, DNA‑binding transcriptional repressor;regulator; Energy metabolism, carbon: Anaerobic respiration; repressor of the glp operon/pseudogene, DNA‑binding transcriptional repressor;regulator; Energy metabolism, carbon: Anaerobic respiration; repressor of the glp operon

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_pgi3,560,4551.G100.0% 111.3 / NA 38intergenic (‑2/+1)glpR/glpRpseudogene, DNA‑binding transcriptional repressor;regulator; Energy metabolism, carbon: Anaerobic respiration; repressor of the glp operon/pseudogene, DNA‑binding transcriptional repressor;regulator; Energy metabolism, carbon: Anaerobic respiration; repressor of the glp operon
Reads supporting (aligned to +/- strand):  ref base . (0/0);  new base G (17/21);  total (17/21)
Rejected as polymorphism: Frequency below/above cutoff threshold.
Rejected as polymorphism: Variant not supported by required number of reads on each strand.

ATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTGTGTT  >  NC_000913_3_hsa_pgi/3560313‑3560597
                                                                                                                                               |                                                                                                                                              
atCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGa                                                                                                                                           >  1:579777/1‑149 (MQ=255)
   gATAACCAGCGGGGAGCCATTGGGGATTTGCGCCGCCACTTTGCGTGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACGGGCATGATGGCGCAGGATCa                                                                                                                                        <  2:318144/149‑1 (MQ=255)
     tAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAgg                                                                                                                                      >  1:885273/1‑149 (MQ=255)
      aaaCAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTTCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGt                                                                                                                                     >  1:716082/1‑149 (MQ=255)
             gTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAgg                                                                                                                                      <  1:375610/141‑1 (MQ=255)
             gTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAgg                                                                                                                                      >  2:375610/1‑141 (MQ=255)
                   cctatGGGGATTTGCTCCGCCACTTAGCGGGCGATGCGCTCTTTGTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAg                                                                                                                        <  2:830731/145‑1 (MQ=255)
                   ccATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAg                                                                                                                        <  1:896777/149‑1 (MQ=255)
                   acATGGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAg                                                                                                                        <  2:830538/148‑1 (MQ=255)
                       tGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTcc                                                                                                                    >  1:350233/1‑148 (MQ=255)
                           gATTTGGTCCGCCCCTTTGCGGGGGATGCGCTCTTTTTCTTCGGTCTTGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGa                                                                                                                <  1:187784/149‑1 (MQ=255)
                           gATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGAATCAGGATTTGCTCCGCCAGCTCATTGa                                                                                                                >  1:429729/1‑149 (MQ=255)
                                         gtttGCGGGCGTTGCGCTCTTTTTCTTCGGTCTGGGTGGTCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATa                                                                                                  <  2:94962/148‑1 (MQ=255)
                                                              tttCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGaaa                                                                             <  1:800730/149‑1 (MQ=255)
                                                              tttCTTCGGTCGGGGTGGCCTGGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGCTCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGaaa                                                                             <  2:176900/149‑1 (MQ=255)
                                                              ttgcttgGGGCTGCGTGGACGTGCGATCGTGCCTCGGCGTGTTAACCCAACTGGAGGGCCGCGCCTCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATGGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGaaa                                                                             <  2:803134/146‑1 (MQ=255)
                                                               ttcttcGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAAt                                                                            <  1:705800/149‑1 (MQ=255)
                                                                  ttcGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGct                                                                         >  1:768528/1‑149 (MQ=255)
                                                                       tCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGAAGGAGAAATGACCTAcc                                                                    >  2:819546/1‑149 (MQ=255)
                                                                              ggCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCTTCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCtt                                                             <  1:137860/149‑1 (MQ=255)
                                                                               gCCTTGCGATCGTGCAACGGCGGGGTAACCGAACGGGAAGGCAGCGCCGAACCGCCATGATAGCGCAGGATCAGGTTTTGCTCCGCCATCTCATTAAGGAAGAGGCGAATAGTCTGCGGGCTGACGCAGGAATGCACTACCAGctcgta                                                            >  2:898628/1‑146 (MQ=255)
                                                                                  ttGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGt                                                         >  2:797160/1‑149 (MQ=255)
                                                                                    tggaacGTGCGACGGGGTTGTAACCGAACTGGAAGGCAGCGCCGTACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGCATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTAc                                                       <  2:866605/144‑1 (MQ=255)
                                                                                       aTCGTGCCCCTGGGTGTTACCCAACCTGGAAGACAGCGCCCCACCGCCAAGAGGCCGCAGGATCAGGTTTTGCGCCGCCACCTCATTGAGGTCGCGGCGAATAGTCTGCTGGCTGACGGAGAAAGGCCCTACCAGCTCTTCGGTACTGa                                                    <  2:884608/149‑1 (MQ=255)
                                                                                         cGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACa                                                  <  1:815588/149‑1 (MQ=255)
                                                                                              cACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCCGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAAcc                                             <  1:584098/149‑1 (MQ=255)
                                                                                                 ggCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCGATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTCCTGACATAACCgtg                                          >  2:390343/1‑149 (MQ=255)
                                                                                                       ttAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTAGGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGACAAGCTCTCCCAGCCCTTAGGTGCTGACATAACCccgctcgtt                                    >  2:459426/1‑145 (MQ=255)
                                                                                                        tAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGATGACGTTCAAAGACGCTAACAGCTCTTCGTTACTGACATAACCCTGCTGTTTa                                   >  1:982214/1‑149 (MQ=255)
                                                                                                               aCTGGAAGGCAGCGCGGGACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGtt                            <  2:186195/149‑1 (MQ=255)
                                                                                                                   gAAGGCAGCGCCGCCCCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGAGGGCAGACACAGAATGGCTCTCCCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGat                        <  2:716082/149‑1 (MQ=255)
                                                                                                                       gCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCCCCTTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCCGCTCTTCGGTGCTGACATAACCCTGCTGTTTAACAAGTTCGataata                    >  2:123652/1‑149 (MQ=255)
                                                                                                                         aGCGGCGCACCGGCATGAGGGCGGAGGAGCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATAcc                  <  2:159913/149‑1 (MQ=255)
                                                                                                                                    gCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGtt       >  1:415679/1‑149 (MQ=255)
                                                                                                                                     ccATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTaa                                  <  2:784025/121‑1 (MQ=255)
                                                                                                                                     ccATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTaa                                  >  1:784025/1‑121 (MQ=255)
                                                                                                                                      cATGATGGCGAAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTAGCGACGAATAGTCTGCGGGCTAACGGATAAATTCTCTTCTTGCTCTTGGATACTGACATAACCCTTCTGTTTAACAAGTACGATACGACCGTTGTGACATtgt     >  2:82975/1‑149 (MQ=255)
                                                                                                                                         gatgGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTGtgtt  <  1:3815/149‑1 (MQ=255)
                                                                                                                                               |                                                                                                                                              
ATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTGTGTT  >  NC_000913_3_hsa_pgi/3560313‑3560597

Alignment Legend
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: