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%	121.6 / NA	37	Q382K (CAG→AAG)	gabP	gamma‑aminobutyrate transporter
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (15/22);  total (15/22)

TACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGC‑CTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGTTA  >  NC_000913_3_hsa_tpiA/2795255‑2795539                                                                                                                                               |                                                                                                                                                tACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGC‑CTGCGAAGGTATTTAAATTTCTGATCAACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCg                                                                                                                                          <  2:94307/149‑1 (MQ=255) tACGGGGCGGTGTTACTCCCCACCGACGCGGCATTTTTAAAGTTGGTGGTGATCTATTACGCGCACGGCATTAGACTCAAAATCAGTG‑CCAGCAGCCCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCg                                                                                                                                          <  1:813364/149‑1 (MQ=255)   cGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGC‑CTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGa                                                                                                                                        <  2:761713/149‑1 (MQ=255)     tGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGC‑CTGCGAAAGGATTTAAATTTCTGATAGTGGGCCCGCGCCCAAGCTCCCTTCTTTTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATg                                                                                                                                      >  2:383526/1‑149 (MQ=255)                 tctcCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGC‑CTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTg                                                                                                                          <  1:383526/149‑1 (MQ=255)                 tctcCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGC‑CTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTg                                                                                                                          <  2:811561/149‑1 (MQ=255)                   tcCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGC‑CTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCg                                                                                                                        >  2:106383/1‑149 (MQ=255)                          gcgcGGCATTCTTAACGGTGGTGGTGAACTATTACGCGC‑CTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAgaa                                                                                                                 <  1:555808/149‑1 (MQ=255)                                       aaCGGTGGTGGTGAACTATTACGCGC‑CTGCGAAGGTATTTAAATTTCTGATCAACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTc                                                                                                    <  1:416436/149‑1 (MQ=255)                                             ggtggtgAACCATTACGCGC‑CTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGc                                                                                              <  2:17493/149‑1 (MQ=255)                                                 gtgAACTATTACGCGC‑CTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTGGCTTGCGAAt                                                                                          >  2:57012/1‑149 (MQ=255)                                                       tATTACGCGC‑CTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCCACATTCGCAAGCGAAtttcgct                                                                                    <  1:80266/149‑7 (MQ=255)                                                               gc‑CTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGt                                                                            >  1:750432/1‑149 (MQ=255)                                                                  cTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTgg                                                                          <  1:635274/149‑1 (MQ=255)                                                                             tttAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCTCGCAgaatttt                                                                                                             >  2:88086/1‑99 (MQ=255)                                                                             tttAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCTCGCAgaatttt                                                                                                             <  1:88086/103‑5 (MQ=255)                                                                             tttAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCt                                                               >  1:436594/1‑149 (MQ=255)                                                                              ttAAATTTCTGATCGACAGCTCCGGCACTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTa                                                              <  1:580164/149‑1 (MQ=255)                                                                              ttAAATTTCTGATCGACAGCCCCGGAGCCATCGCCCTGCTGGTTTATTTAGTCCTCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTa                                                              <  2:249717/149‑1 (MQ=255)                                                                                     tCTTATCGACAGCTCCGGCGCTATCGCCTTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCg                                                       <  2:288644/149‑1 (MQ=255)                                                                                     tCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCg                                                       <  2:772294/149‑1 (MQ=255)                                                                                                gCTCTGGGGCGAGCGCCCTGCTGGTTTATTTAGTCATGGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGGGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTAcc                                            <  2:92410/149‑1 (MQ=255)                                                                                                      gctcgaTCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTACTCATCGGCTTTATTCCCTTtgtg                                      >  2:111257/6‑149 (MQ=255)                                                                                                        gcTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCGGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGtt                                    <  1:415245/149‑1 (MQ=255)                                                                                                        gcTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTCAGGATGCGAAACATTCTGCGCGCAGCCGGAAGCGCAACTCGCTAGCAAACGTGGCTTTCGCGCTGGCCCACCAGGCCTGGCTCCGCCTTGATTACCTTCTTGtt                                    >  2:486833/1‑149 (MQ=255)                                                                                                        gcTAGCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGtt                                    <  2:123907/149‑1 (MQ=255)                                                                                                              gCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGCTGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTAGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCGTCGGCTTTATTACCTTGGTGTTGGTAGt                              >  2:225318/1‑149 (MQ=255)                                                                                                              gCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGt                              >  1:420144/1‑149 (MQ=255)                                                                                                               cccTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTg                             >  1:731510/1‑149 (MQ=255)                                                                                                                ccTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGa                            <  1:106383/149‑1 (MQ=255)                                                                                                                    ctgGTTTATTTAGTCATCGCCGTTTCAAAGTTGCTGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCt                        <  1:550221/149‑1 (MQ=255)                                                                                                                        tttatttaGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATtc                    >  2:61166/1‑149 (MQ=255)                                                                                                                             ttaGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTg                             >  2:824214/1‑135 (MQ=255)                                                                                                                             ttaGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTg                             <  1:824214/135‑1 (MQ=255)                                                                                                                                gTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGgc            >  2:217680/1‑149 (MQ=255)                                                                                                                                   aTCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCa         >  2:385331/1‑149 (MQ=255)                                                                                                                                          tttCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGTTa  <  1:61166/149‑1 (MQ=255)                                                                                                                                               |                                                                                                                                                TACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGC‑CTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGTTA  >  NC_000913_3_hsa_tpiA/2795255‑2795539

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: ‑