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%	162.6 / NA	51	Q382K (CAG→AAG)	gabP	gamma‑aminobutyrate transporter
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (26/25);  total (26/25)

GTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGTTA  >  NC_000913_3_hsa_tpiA/2795266‑2795539                                                                                                                                   |                                                                                                                                                  gtTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCaaaa                                                                                                                                 >  1:693142/1‑149 (MQ=255)    aCTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGCACTATTACGCGCCTGCGACGGTATTTAAATGTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTCGATTATTTAGTCATCGCCGTTTCAAAGTTGCGGCGGCCCACAATTc                                                                                                                              >  2:85815/1‑149 (MQ=255)    aCTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTc                                                                                                                              <  1:164970/149‑1 (MQ=255)     ctctCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGAGTAATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTAAAAGTTTCGACTGCGCAAAATACt                                                                                                                             >  1:205916/1‑149 (MQ=255)        tcCACCGGCGCCGCATTCTTAACGGTGGTTGTGAACGATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCg                                                                                                                         <  1:14810/149‑1 (MQ=255)           aCCGGCGCGGCATTCTTAACGGTGGTGCTGCATTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGAGGCGCAAAATTCT‑gcgcgc                                                                                                                      >  2:600218/1‑149 (MQ=255)                 gcgGCATTCTTAACGGTGGTGGGGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAgaagg                                                                                                                <  2:627089/149‑1 (MQ=255)                  cgGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAgaagga                                                                                                               <  1:130407/149‑1 (MQ=255)                   ggCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAgaaggaa                                                                                                              <  1:74099/149‑1 (MQ=255)                   ggCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAgaaggaa                                                                                                              <  1:595252/149‑1 (MQ=255)                    gCATTCTTATCGGTGGTGGTGAACCATTACGCGCATGTGAAGGTATTTAAATTTCTGATCGACAGTTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCTTCGCCTTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCTCGCAgaattttg                                                                                                             <  2:402350/149‑6 (MQ=255)                    gCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAgaaggaag                                                                                                             >  1:693009/1‑149 (MQ=255)                    gCAGTCTTAACGGTGGTCGTGAACTGTTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGTTGGTTTATTTAGTCATCGCCGTGTCAAAGTTGCTGATGCGCAAAATTCT‑GCGAGCAgaaggaag                                                                                                             <  2:52215/149‑1 (MQ=255)                       ttCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGa                                                                                                                                          <  1:740035/118‑1 (MQ=255)                       ttCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGa                                                                                                                                          >  2:740035/1‑118 (MQ=255)                          ttAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAAt                                                                                                      >  1:260408/1‑149 (MQ=255)                           tAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTCGTCATCTCCCCTTCAAAGTTGCGGATG‑GCCAAATCGTAGCTAGCAGAAGGACGCG‑AAAtt                                                                                                     >  1:189587/1‑149 (MQ=255)                                  ggtggtgAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGAACGACATCTCCTGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGCTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAACTCCCTTGc                                                                                              >  2:4150/1‑149 (MQ=255)                                       tgAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGa                                                                                                                        <  1:458492/119‑1 (MQ=255)                                       tgAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGa                                                                                                                        >  2:458492/1‑119 (MQ=255)                                           cTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGc                                                                                     >  1:780222/1‑149 (MQ=255)                                           cTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGATGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTgga                                                                                     >  2:491881/1‑148 (MQ=255)                                              ttACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCttt                                                                                  >  2:647708/1‑149 (MQ=255)                                                aCGGGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTAt                                                                                <  1:795946/149‑1 (MQ=255)                                                    gcCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGGTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAAAAGG‑AGCGCAAATCCCCTTGCGAATGTGGCTTTATCCGt                                                                            >  2:343597/1‑149 (MQ=255)                                                      cTGCGAAGGTATTTAAATTTCTGATCGACCGCTCCGGCGCTATCGCCCTGCTGGCTTATTTAGTCATCGCTGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCCTGCGAATGTGGCTTTTTCCGTgg                                                                          >  1:704223/1‑149 (MQ=255)                                                      cTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGAATAAGGTAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTgg                                                                          <  1:410948/149‑1 (MQ=255)                                                                  ttAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTAGTATTTCTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTa                                                              <  1:65391/149‑1 (MQ=255)                                                                   tAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAg                                                             <  2:780222/149‑1 (MQ=255)                                                                        ttCGGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATc                                                        <  1:631281/149‑1 (MQ=255)                                                                           tGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCTGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGc                                                     >  1:743120/1‑149 (MQ=255)                                                                            gATCGACCGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCt                                                    <  2:498028/149‑1 (MQ=255)                                                                            gATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCt                                                    >  1:631262/1‑149 (MQ=255)                                                                              tCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCttt                                                  >  2:602459/1‑149 (MQ=255)                                                                                gACAGCTCCGGCGCTATCGCCCTGCTGGTTTCTTTAGTCATCGCCGTTCCAAACTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCGGTGGCTCACCTGGCTAGTCATCGGCTttat                                                >  2:452309/1‑149 (MQ=255)                                                                                gACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTttat                                                >  2:415655/1‑149 (MQ=255)                                                                                          gcgcTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTtgtg                                      <  2:693142/149‑1 (MQ=255)                                                                                              tATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTgg                                  <  1:415655/149‑1 (MQ=255)                                                                                              gaTCGCCCTGCTGGTTTATTTGATCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTgg                                  <  1:600218/148‑1 (MQ=255)                                                                                                   cccTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTGGCt                                                                        <  1:238325/106‑1 (MQ=255)                                                                                                   cccTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTGGCt                                                                        >  2:238325/1‑106 (MQ=255)                                                                                                    ccTGCTGCTTTATTTAGTCATCGCCGTTTCAAACTTGCGCATGCGCAAAATTCT‑GCTAGCAGAAGGAATCG‑AAATTCGCTTGCGAATTTTGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGa                            <  1:491881/149‑1 (MQ=255)                                                                                                     cctcttatttatttaGTCACCGCCGTTTCAAAGTTGCTAAATCCCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCTCTTGCCAATTTGTCTTTATCCTTAGCTCACCTAGCTAGTCATCTGCTTTATTACCTTTGTCTTAGTAGTCAt                           <  2:777927/142‑1 (MQ=255)                                                                                                         tgGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTGGTCATCGCCTCTATTACCTTTGTGTTGGTCGTGATGCtc                       >  2:679879/1‑148 (MQ=255)                                                                                                           gTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTCATTACCTATCGGGTGGTATTGATGATAtt                     >  2:440100/1‑149 (MQ=255)                                                                                                              tagttaGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCGGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGATAGTGAGTTGCTTTATTCCCTTTGTGTTGGTAGTGATGCTATtccg                  <  1:452309/146‑1 (MQ=255)                                                                                                                    gTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGgc            >  1:673165/1‑149 (MQ=255)                                                                                                                     tCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGGGATGCTATTCCGTCCGgcg           >  1:132928/1‑149 (MQ=255)                                                                                                                           ccGTTTCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAg     >  1:668407/1‑149 (MQ=255)                                                                                                                            cGTTTCAAAGTTGCGGCTGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGt    <  1:647708/149‑1 (MQ=255)                                                                                                                              tttCAAAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGTTa  <  1:89310/149‑1 (MQ=255)                                                                                                                                   |                                                                                                                                                  GTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCT‑GCGAGCAGAAGGAAGCG‑AAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGTTA  >  NC_000913_3_hsa_tpiA/2795266‑2795539

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑