Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 3,560,455 +G 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_tpiA3,560,4551.G100.0% 123.7 / NA 37intergenic (‑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 (13/24);  total (13/24)

CGATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGC‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGAT  >  NC_000913_3_hsa_tpiA/3560309‑3560575
                                                                                                                                                   |                                                                                                                        
cGATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGcgc                                                                                                                         >  2:65495/1‑147 (MQ=255)
  atatCGATAAAGAGCGTCGGGCCATTGTGGGTTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGcgcag                                                                                                                       <  2:525981/149‑5 (MQ=255)
  ataaCGATAAACAGCGTCGAGCCATTTGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGcgcag                                                                                                                       <  2:1044834/149‑5 (MQ=255)
     tcagtAAACGGCGTCGGGGCAGTGGGGATTTGCTCCGCCGCTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGTCGCAGGAt                                                                                                                    <  2:133451/145‑1 (MQ=255)
     tCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGAt                                                                                                                    >  1:501845/1‑149 (MQ=255)
       gATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGAGGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCa                                                                                                                  <  1:91554/149‑1 (MQ=255)
          aaaCAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGACGGCAGCGCCTCACCGCCATGAGGGCGCAGGTTCAGGt                                                                                                               >  1:360906/1‑149 (MQ=255)
            aCAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGttt                                                                                                             <  1:581087/149‑1 (MQ=255)
             cAGCGTCGAGCCATTGTGGAGTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGtttt                                                                                                            <  2:92757/149‑1 (MQ=255)
              aGCGTGGAGCCATTGGGGATTTTCCCCGCCACTTTGCGGGCTATGCGCTCGTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTg                                                                                                           <  2:361929/149‑1 (MQ=255)
              aGCGTCGAGCCACTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTg                                                                                                           <  1:23596/149‑1 (MQ=255)
               gCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCTACGGCGTGTTAACCGAACTGGAAGGCAGCGCCCCCCCGCCATGATGGCGCAGGAGCAGGTTTTGc                                                                                                          >  1:947717/1‑149 (MQ=255)
                    gAGCCGTGGGGGTTTTGCTCCGCCACTTGGCGGGCGATGCGCTCGTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGc                                                                                                     <  2:440281/149‑1 (MQ=255)
                     aGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGcc                                                                                                    <  1:65495/149‑1 (MQ=255)
                             gggCTTTGCCCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGGGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCAtt                                                                                            <  1:524273/149‑1 (MQ=255)
                                aTTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCGGGGCCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAg                                                                                         <  1:214696/149‑1 (MQ=255)
                                aTTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAg                                                                                         <  1:607577/149‑1 (MQ=255)
                                      tCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTAGCGGGGATCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTcgcg                                                                                   >  1:1077583/1‑149 (MQ=255)
                                           cACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGaa                                                                              <  2:772944/149‑1 (MQ=255)
                                            aCTTTGCGGGCGATGCGCTCTTTTTCTTCGGGCTGGGTGGCCTTGAGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAAt                                                                             >  1:869445/1‑149 (MQ=255)
                                                   gggCGAGGCGCGCTGTTTCTGCGGTCTGGGTGGCCTTGCGATCGGGCCACGGCGTGTTAACCGAACTGGAAGGCAGGGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGc                                                                      <  2:248690/149‑1 (MQ=255)
                                                                tttttCTTCGGTCTGGGTGGCCTTTCGATCGTGCCACTGCGTGTTAACCGAAGTGGAAGGCAGCGCCGCATCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCTAATAGTCTGCGGGCTTACGgaga                                                         <  1:1011948/149‑1 (MQ=255)
                                                                  tttCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGaaa                                                       >  1:769171/1‑149 (MQ=255)
                                                                      ttcGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGct                                                   <  1:8785/149‑1 (MQ=255)
                                                                                   gCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTc                                      >  2:512048/1‑149 (MQ=255)
                                                                                    ccTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCCCCGTCATCTCATTGAGGTCGCGGCGAATAGGATGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCg                                     <  1:208731/149‑1 (MQ=255)
                                                                                     cTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCa                                                                                                                  >  2:208424/1‑71 (MQ=255)
                                                                                     cTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCa                                                                                                                  <  1:208424/71‑1 (MQ=255)
                                                                                                  cACGGGGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAAcc                       <  1:634429/149‑1 (MQ=255)
                                                                                                   aCGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCCCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGGGAAATGCTCTACCAGCTCTCCGGTAGTGAACTAAccc                      >  2:772418/1‑149 (MQ=255)
                                                                                                         tgtTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGt                >  2:915031/1‑149 (MQ=255)
                                                                                                           ttAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGttt              >  2:1090298/1‑149 (MQ=255)
                                                                                                             aaCCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTaa            <  1:512048/149‑1 (MQ=255)
                                                                                                              aCCGAAGTGGGAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAAc           <  2:249218/149‑1 (MQ=255)
                                                                                                                 gAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCgg                                                                    <  2:612839/89‑1 (MQ=255)
                                                                                                                 gAACTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCgg                                                                    >  1:612839/1‑89 (MQ=255)
                                                                                                                    cTGGAAGGCAGCGCCGCACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCGGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTc     <  1:882726/149‑1 (MQ=255)
                                                                                                                       gAAGGCAGGGGCGCACGGCCAGGATGGCGCAGGAGCAGGTTGTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGGCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGat  <  2:380143/149‑1 (MQ=255)
                                                                                                                                  cgcACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTg                               <  2:386428/109‑1 (MQ=255)
                                                                                                                                  cgcACCGCCATGATGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTg                               >  1:386428/1‑109 (MQ=255)
                                                                                                                                                   |                                                                                                                        
CGATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATGGC‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGAT  >  NC_000913_3_hsa_tpiA/3560309‑3560575

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑