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% 111.4 / ‑6.7 39Q382K (CAG→AAG) gabPgamma‑aminobutyrate transporter
Reads supporting (aligned to +/- strand):  ref base C (1/0);  new base A (20/18);  total (21/18)
Rejected as polymorphism: E-value score below prediction cutoff.
Rejected as polymorphism: Frequency below/above cutoff threshold.
Rejected as polymorphism: Variant not supported by required number of reads on each strand.

CCCGTACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGT  >  NC_000913_3_hsa_tpiA/2795251‑2795537
                                                                                                                                                 |                                                                                                                                             
cccGTACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGt                                                                                                                                            >  2:262586/1‑149 (MQ=255)
   gTACGTGGCGGTGGTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTTCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGc                                                                                                                                         <  2:382544/149‑1 (MQ=255)
     aCGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGtcacgg                                                                                                                                       >  1:263751/1‑144 (MQ=255)
      cGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGa                                                                                                                                      <  1:205866/149‑1 (MQ=255)
         ggCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCATACGAGGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCAGGTTTTGTTAGTCATCGCCGTTTCAAATTTGCGAATgc                                                                                                                                   >  1:206340/1‑149 (MQ=255)
              tgtTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTCGTCATAGCCGTCTGTCAGTTGCGGAGGCGCaac                                                                                                                              >  2:434567/1‑148 (MQ=255)
                   ctccCCACCGACGCGGCAATCTTAACGGTCGTAGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTCATCGACAGCCCCCGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCt                                                                                                                         <  2:514720/149‑1 (MQ=255)
                    tctcCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTg                                                                                                                        >  1:482656/1‑149 (MQ=255)
                                        ttAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATTGCTCTGCTGGTTTATTTAGTAATCGCCGTTCCAAAGTTGCGGATGCACAAAATTCTGCGGGCAGAAGGAGCCGAAAt                                                                                                    >  2:512982/1‑149 (MQ=255)
                                              gtggtggtgAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCtt                                                                                              <  1:566242/149‑1 (MQ=255)
                                              gtggtggtgAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCtt                                                                                              <  1:374993/149‑1 (MQ=255)
                                                    gtgAACGATTACGTGCCTGCGAAGGTATTTAAATTTCTGATCGACAGTTCCGGCGCTATCGTCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGTATGCGCAAAATTCTGCGAGCAGAAGGAATCGAAATTCGCTTGCGAAt                                                                                        <  2:560481/149‑1 (MQ=255)
                                                     tgAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAAtg                                                                                       >  1:552776/1‑149 (MQ=255)
                                                     taaaCTATTACGCGCCCGCGAAGGTATTTAAGCTGCTCATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAAtg                                                                                       <  1:353845/147‑1 (MQ=255)
                                                      gAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAgaaggaa                                                                                                           <  2:331308/128‑1 (MQ=255)
                                                      gAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAgaaggaa                                                                                                           >  1:331308/1‑128 (MQ=255)
                                                       aaCTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCCAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAAtgtg                                                                                     >  2:219487/1‑149 (MQ=255)
                                                       aaCTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATCCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAAtgtg                                                                                     >  1:285676/1‑149 (MQ=255)
                                                        aCTCTTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTgg                                                                                    <  1:417960/149‑1 (MQ=255)
                                                                 cgcCAGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCCTCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTTCGAGCCACAGGAAGCCAAATTCGCTTGCGAATGTGGCTTTATCCg                                                                           >  2:228922/1‑149 (MQ=255)
                                                                  gcCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGt                                                                          <  1:394526/149‑1 (MQ=255)
                                                                   cccgCGAAGGTATTTAATTTTCTGAACGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTGTCAAAGGTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTg                                                                         <  1:420029/146‑1 (MQ=255)
                                                                     tGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGc                                                                       >  1:224921/1‑149 (MQ=255)
                                                                         aaGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTAATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAGGCGAAATCATCTTGCCAATGTGGCTTTATCGGTGGCTccc                                                                   >  1:383997/1‑147 (MQ=255)
                                                                               tttAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGTAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCt                                                             >  2:464996/1‑149 (MQ=255)
                                                                                   actttCTGATCGACAGCTCCGGCGCTATCGCCCTGCGGGTTTATTACGTCATCGGCGTTTCAAAGTTGCGAATCCGCAGAAGTCTGCGAGCAGAAGGAAGCGAAATTAGCTCGCGAATCTGGCATTATCCGCGTCTCCCCTGGCTAGTc                                                         >  2:113039/3‑149 (MQ=255)
                                                                                       tCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCg                                                     <  1:371156/149‑1 (MQ=255)
                                                                                           aTCGACAGCTCCGGCGGTATCGTCCTGCTTGTTTATTTAGTCATCGCCTGTGCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCtt                                                 <  2:123942/149‑1 (MQ=255)
                                                                                            tCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCttt                                                >  2:563205/1‑149 (MQ=255)
                                                                                            tCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTCGCTAGTCATCGTCttt                                                >  2:302129/1‑149 (MQ=255)
                                                                                                           cTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGAGGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTg                                 <  1:219845/149‑1 (MQ=255)
                                                                                                           cTATCGCCCTGCTGGTTTATTTAGTCATAGCCGGTTCAAGGTTGCGGCTGCGCAAAATTCTGGGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATACGTGACTCACATAGCTTGTCCTCGGCCTAGTGACCtttagtttg                                 >  2:95693/1‑143 (MQ=255)
                                                                                                                           ttattttGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATtcc                 <  1:426239/149‑1 (MQ=255)
                                                                                                                           ttatttaGTCATCGCCGTTTCAAGGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATtcc                 <  1:369063/149‑1 (MQ=255)
                                                                                                                                   tCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTGCGTCCGgcg         >  2:603798/1‑149 (MQ=255)
                                                                                                                                      tCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCCGCGAGCAGAAGGAAGCGAGATTCCCTTGAGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTCTATTCCCTTTGTGACGGTAGTGCTGACATTCCGTCCGgcgccc      >  2:579090/1‑147 (MQ=255)
                                                                                                                                        gCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTTTGTTGGTAGTGATGATATTCCGTCCGGCGCAACa    >  1:137059/1‑149 (MQ=255)
                                                                                                                                          cGTTTCAAAGTTGCGGATTCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGGGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGt  <  2:563468/149‑1 (MQ=255)
                                                                                                                                          agTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTCTTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGt  <  1:560712/148‑1 (MQ=255)
                                                                                                                                                 |                                                                                                                                             
CCCGTACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGT  >  NC_000913_3_hsa_tpiA/2795251‑2795537

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: ‑