Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 2,795,396 C→A 100% Q382K (CAG→AAG)  gabP → gamma‑aminobutyrate transporter

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA2,795,3960CA100.0% 112.8 / NA 37Q382K (CAG→AAG) gabPgamma‑aminobutyrate transporter
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (16/21);  total (16/21)
Rejected as polymorphism: Frequency below/above cutoff threshold.
Rejected as polymorphism: Variant not supported by required number of reads on each strand.

TTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGTTAG  >  NC_000913_3_hsa_tpiA/2795267‑2795540
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ttACTCTCCACCGGCTCGGCATCCTTAACGGTGGTGGTGAACTATTCCGCTCTTGCGAAGGTATTTGAGTTTCTGATCGACAGCTTGTGCGCTATCGCGTTGATGGTTTTTGTCGTCGTCTCATTTTAAAAGTTGCGGATGCGCAAAAt                                                                                                                               >  2:141510/1‑149 (MQ=255)
             gtgcgGCATTGTTAACGGTGGTGGTGAACTATTACGTGCCTGCGAAGGTATTTAACTTTCTGATCGACAGCGCCGGCGCCATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAgaa                                                                                                                  <  1:14354/147‑1 (MQ=255)
             cggcgGCAGTCTTGACGGTTGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTGTGATCGACAGCTCCGGCGCTATGGCACTGCTGGTCTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAgaa                                                                                                                  <  2:726118/147‑1 (MQ=255)
                  gCATTCTTAACGGTGGTGGGGAACTATTACGCGCCTGCGAAGGTATTTAAATTTTTGATCGACAGCTCAGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAgacggaag                                                                                                             <  2:448007/149‑1 (MQ=255)
                       cTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAACTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCTTCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCCGAAGGAGGCGcaa                                                                                                        >  2:549607/1‑149 (MQ=255)
                                    gtgAACTATTACGCGCCTGCGCAGGTAGTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGGAATTAGGTTgagctt                                                                                           >  1:70226/1‑144 (MQ=255)
                                       aaCTATTACGCGCCTGCGAAGGTATTTAAATTTCGGATCGACAGCTCCGGCGCCATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTACGGATGGGCAAACTTCTGCGAGCCGAATGAAGCGCAATTCGCTTGCGGAtgtg                                                                                        >  2:46277/1‑149 (MQ=255)
                                          tATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCt                                                                                     <  1:86572/149‑1 (MQ=255)
                                             tACGCGCCTGCGAATGTATTTAAATTTCTGATCGACAGTTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTa                                                                                  <  2:713182/149‑1 (MQ=255)
                                                   ccTGCGAAGGTATTTAAATTTCTGATCGACAGATCCGGCGCAATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCTGATGCGCAAAACTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTg                                                                            <  1:63119/149‑1 (MQ=255)
                                                    cTGCGAAGGCATTTAAATTTCTCATCGACAGCTCCGGCTCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTGTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTgg                                                                           <  2:70226/149‑1 (MQ=255)
                                                     tGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCCCCTGTGCTCAGTCCTAGGAGCAGAAGGAAGCGCAATTCGCTTGCGAATGGGGATCTATCCGTAGc                                                                          >  1:167184/1‑149 (MQ=255)
                                                         aaGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTccc                                                                      >  1:320740/1‑147 (MQ=255)
                                                           ggTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCt                                                                    <  2:14595/149‑1 (MQ=255)
                                                              aTTTAAATTTCTGATCGACAGCTCCGGCGCTAAGGGCCTGCTGGTTTATTTAGTCCTCGCCGTTTCAAAATTGCGAATGCGCAAAATTCTGCGAGCAGAAGGAAGCAAAATTCGCTTGCGAATATGGCTTTCGCGTTGGCTCCCCTGGc                                                                 >  2:239438/1‑149 (MQ=255)
                                                                ttAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTa                                                               <  1:186504/149‑1 (MQ=255)
                                                                        cTGATCGACAGCTCCGGCGCTATCGGCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGACGCTAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCgg                                                       <  2:83408/149‑1 (MQ=255)
                                                                          gaccggcAGCTCCGGCGCTATTGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCATAAGGACGCGAAATTCGCTTGCGAATGTGGCTTTATCCGGGGCTCACCTGGCTAGTCATCGGCt                                                     <  1:5643/143‑1 (MQ=255)
                                                                          gATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTAACCTAGCTAGTCATCGGCt                                                     >  1:275969/1‑149 (MQ=255)
                                                                           aTCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCtt                                                    <  1:269397/149‑1 (MQ=255)
                                                                             cGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTtta                                                  <  2:573556/149‑1 (MQ=255)
                                                                                   cTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTAcat                                            >  1:637753/1‑147 (MQ=255)
                                                                                   cTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCt                                            >  1:702927/1‑149 (MQ=255)
                                                                                     ccGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCttt                                          <  1:558324/149‑1 (MQ=255)
                                                                                       ggCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTtgt                                        >  2:310044/1‑149 (MQ=255)
                                                                                         cgcTATCGCGCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTgtgt                                      <  2:424572/149‑1 (MQ=255)
                                                                                         cgcTATCGCCCGTGTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTgtgt                                      <  2:65535/149‑1 (MQ=255)
                                                                                            tATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTgtgt                                      >  2:105557/1‑146 (MQ=255)
                                                                                            tATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTgtgt                                      <  1:105557/146‑1 (MQ=255)
                                                                                                  ccctctgGTTTATTTAGTCATCGCCTTTTAAAAGTTGCGGATGATCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCTCTTGCCAATGTGGCTTTATCCGTGGCTCGCGTGGCTATTCATAGGCCTTATTACCTTTGTGTTGGTAGTGa                             <  2:123370/145‑1 (MQ=255)
                                                                                                  ccTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGa                             <  1:243107/149‑1 (MQ=255)
                                                                                                     gctgGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGc                          <  1:669576/149‑1 (MQ=255)
                                                                                                     gcgggTTTATTTAGTCATCGCCGTTTCAAAGGTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGc                          <  2:466869/146‑1 (MQ=255)
                                                                                                                  gTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGgc             >  1:31168/1‑149 (MQ=255)
                                                                                                                   tCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTCTGTGTTGGTATTGATGCTATTCCGTCCGgcg            >  2:653973/1‑149 (MQ=255)
                                                                                                                      tCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCCTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCaa         >  2:418852/1‑149 (MQ=255)
                                                                                                                             ttCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGTTAg  >  1:188950/1‑149 (MQ=255)
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TTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGTTAG  >  NC_000913_3_hsa_tpiA/2795267‑2795540

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: ‑