Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	2,795,396	C→A	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_tpiA	2,795,396	0	C	A	100.0%	155.9 / NA	48	Q382K (CAG→AAG)	gabP	gamma‑aminobutyrate transporter
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (21/27);  total (21/27)

CGTACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGTTAGA  >  NC_000913_3_hsa_tpiA/2795253‑2795541                                                                                                                                                |                                                                                                                                                  cGTACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTg                                                                                                                                              <  2:1071645/149‑1 (MQ=255)   tcgggggCGGTGTTCCGCTCCGCTGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTAGGTAACGTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCg                                                                                                                                            <  2:364159/144‑1 (MQ=255)     cGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTGTCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGa                                                                                                                                          <  1:986323/149‑1 (MQ=255)     cGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGa                                                                                                                                          <  2:863077/149‑1 (MQ=255)         gCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATgcg                                                                                                                                      >  2:283045/1‑149 (MQ=255)                 aCTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGCACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGTTCCGCAGAATTc                                                                                                                              >  2:386068/1‑149 (MQ=255)                  cgctcCACCGGCGCGTCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCt                                                                                                                             <  1:586764/147‑1 (MQ=255)                   tctcCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCGAAGTTGCGGATCCGCAAAATTCTg                                                                                                                            >  2:91092/1‑149 (MQ=255)                    ctcCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGc                                                                                                                           >  1:77202/1‑149 (MQ=255)                      ccACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGa                                                                                                                         <  2:876321/149‑1 (MQ=255)                       cACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAg                                                                                                                        >  1:1157123/1‑149 (MQ=255)                              gcgGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAGTTTCTCATCGACAATTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAgaagg                                                                                                                 >  1:350109/1‑149 (MQ=255)                              gcgGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAgaagg                                                                                                                 >  1:269143/1‑149 (MQ=255)                                ggCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAgaaggaa                                                                                                               <  1:1152637/149‑1 (MQ=255)                                      cTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGaaa                                                                                                         >  1:471999/1‑149 (MQ=255)                                           cGGTGGTGGTGAACTATTACGCGCATGCGAAGGTATTTAAATTTCTGAGGGACAGATCAGGCGCTATGGCCATGCAGGTGTATTTAATAATCGACGGTTTAAAGTTGCGGGTGAGGAACGTGCGGCGCGCGGAAAGAAGAGAACTTctc                                                                                                    >  2:430200/1‑147 (MQ=255)                                            ggtggtggtGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCt                                                                                                   >  1:717383/1‑149 (MQ=255)                                                     gAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAAtgt                                                                                          <  2:21994/149‑1 (MQ=255)                                                     gAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAAtgt                                                                                          >  1:238781/1‑149 (MQ=255)                                                      aaCTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAAtgtg                                                                                         >  2:670457/1‑149 (MQ=255)                                                       aCTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTgg                                                                                        <  2:910592/149‑1 (MQ=255)                                                         tattatGCGCTTTCTAAGGTTCTTAAATTCCTGTTCGACGTGTTCGGTGCTTGTGCCCTGTTGGTTTATTTTCTTATTTTCTTTTGAAAGTTTCGGATGCGCAAAATTCTGCGAGCATAAGTAAGCTAAATTCGCTTGCGAATTTTGCt                                                                                      <  2:496223/149‑1 (MQ=255)                                                               gcgcCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATcc                                                                                >  1:949836/1‑149 (MQ=255)                                                                 gcCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGt                                                                              <  2:888492/149‑1 (MQ=255)                                                                   cTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTgg                                                                            <  1:670457/149‑1 (MQ=255)                                                                   cTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGAgg                                                                            <  2:645099/149‑1 (MQ=255)                                                                        aaGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCAc                                                                       <  1:706224/149‑1 (MQ=255)                                                                           gTATTTAAATTTCTTATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTg                                                                    <  2:350109/149‑1 (MQ=255)                                                                             ttttAAATTTCGAATCGACAGCTGCGGCGCTAGCGCCCGGCTGTTTTATTTAGTCCGCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAATCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGc                                                                  <  2:389958/148‑1 (MQ=255)                                                                               ttAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGcaa                                                                >  1:1007775/1‑147 (MQ=255)                                                                                         gATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCt                                                      <  2:238781/149‑1 (MQ=255)                                                                                         gATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGAGAATGTGGCTTTATCCGTGGCTCACCTGGCTAATCATCGGCt                                                      >  1:828515/1‑149 (MQ=255)                                                                                              aCAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTttatt                                                 >  1:77816/1‑149 (MQ=255)                                                                                                aGCTCGGGGTCTATCGTCCTGGTGGTTGATTTAATCACGTCCGTTTCAAAGTTTAGGGTTCTTACAATTGTGGGAGCAGAAGGAAGGGAAATTCGCTTGCGAATGTGTCTTTATCCGTGGCTCATCGGGCTAGTCATCGGCTTTATTAc                                               <  2:938520/149‑1 (MQ=255)                                                                                                aGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAATCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTAc                                               <  2:1191873/149‑1 (MQ=255)                                                                                                 gCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGACGGACGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGTAGGTCATCGGCTGTATTAcc                                              >  2:601449/1‑149 (MQ=255)                                                                                                    ccGGCGCTATCGCCCGCCGGGTTTATTTAGTGATCGCCGTGTCCAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCttt                                           <  2:167175/149‑1 (MQ=255)                                                                                                     cGGCGCTAGCGCCCTTCTGGTTTATTTAGTCATCGTCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTtg                                          <  1:386068/149‑1 (MQ=255)                                                                                                         gcTATCCCCCCGCTGTTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCTCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGtt                                      <  1:882040/149‑1 (MQ=255)                                                                                                              cGCCCAGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTAGCCGTGCCTCACCTTGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAg                                 <  2:527645/149‑1 (MQ=255)                                                                                                                 ccTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGa                              <  2:672165/149‑1 (MQ=255)                                                                                                                      tgGTTTATTTAGTCAGCGGCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTa                         <  2:565633/149‑1 (MQ=255)                                                                                                                       ggTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTAt                        <  2:1157123/149‑1 (MQ=255)                                                                                                                            atttaGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATtccgt                   >  2:9696/1‑149 (MQ=255)                                                                                                                                    aTCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGCGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCa           >  1:1227696/1‑149 (MQ=255)                                                                                                                                    aTCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCa           >  1:1000603/1‑149 (MQ=255)                                                                                                                                       gCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACa        >  2:953659/1‑149 (MQ=255)                                                                                                                                             tCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGTTAGa  <  1:450087/149‑1 (MQ=255)                                                                                                                                                |                                                                                                                                                  CGTACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGTTAGA  >  NC_000913_3_hsa_tpiA/2795253‑2795541

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑