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%	115.3 / NA	34	Q382K (CAG→AAG)	gabP	gamma‑aminobutyrate transporter
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (18/16);  total (18/16)

CGTACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGTTAG  >  NC_000913_3_hsa_tpiA/2795253‑2795540                                                                                                                                                |                                                                                                                                                 cGTACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTTAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGc                                                                                                                                            <  1:643681/150‑1 (MQ=255)  gTACGTGCCGGTGTTACTCTCCACCGCCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCTTGCGAAGGTATTTAAATCTCTGATCGACAGCTCCGGCACTATCGCCCTGCTGGTTTATATAGTCATCGCCGTTTCAAAGTTGCg                                                                                                                                           <  1:621878/150‑1 (MQ=255)      gTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATg                                                                                                                                       <  2:554726/150‑1 (MQ=255)           ggTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCaa                                                                                                                                  >  1:621298/1‑150 (MQ=255)                   tctcCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGc                                                                                                                          >  1:168213/1‑150 (MQ=255)                   tctcCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGc                                                                                                                          >  2:21094/1‑150 (MQ=255)                   tctcCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTAGTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAACATTCTGc                                                                                                                          >  2:560127/1‑150 (MQ=255)                     tcCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCgg                                                                                                                        >  1:583985/1‑149 (MQ=255)                     ccctccGGCCCCGCAGTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGa                                                                                                                        <  1:469192/146‑1 (MQ=255)                               cgGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAgaaggaa                                                                                                              <  1:40614/150‑1 (MQ=255)                                ggCATTCTTAACGGTGGTGGTGAACTAGTACGGGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGGTGGTTTATTGCGTCATCGGCGTTTTAAAGTTGCGGATGCGCAAAATTCTGCGAGCAgaaggaag                                                                                                             <  1:118039/150‑1 (MQ=255)                                       ttAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAAtt                                                                                                      >  1:354874/1‑150 (MQ=255)                                                    tgAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAAtgt                                                                                         <  1:400352/150‑1 (MQ=255)                                                                       gAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCAAAATTCGCTAGCGAATGTGGCTTTATCCCAGGCTCAc                                                                      >  1:48660/1‑150 (MQ=255)                                                                              tttAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTa                                                               <  2:168213/150‑1 (MQ=255)                                                                                   aTTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCAt                                                          >  1:442357/1‑150 (MQ=255)                                                                                   aTTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCAt                                                          >  1:438920/1‑150 (MQ=255)                                                                                    tttCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCAGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTTCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATc                                                         >  1:1175/1‑150 (MQ=255)                                                                                        tGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCggat                                                     >  2:92673/1‑148 (MQ=255)                                                                                         gATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGGCGTTTCAAAGTTGCGGGTGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTCGGCATCGGcct                                                    >  1:43761/1‑148 (MQ=255)                                                                                              aCAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGAGAGCAGAAGGAAGCGAAATTCGCTTGCGACTGTGGGTTTATCCGTGGCTCAACTGGCTATTAATCGCCTttgtta                                               >  2:298501/1‑150 (MQ=255)                                                                                                aGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGCGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGCATCAAATGGTCCGTTATCGGCTTTCTTTcc                                             >  2:314906/1‑150 (MQ=255)                                                                                                      ggCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTtgtg                                       <  1:79106/150‑1 (MQ=255)                                                                                                          cTATCGCCTTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCCCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTgg                                   <  2:42879/150‑1 (MQ=255)                                                                                                           tATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTgg                                                                                       <  1:545941/97‑1 (MQ=255)                                                                                                           tATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTgg                                                                                       >  2:545941/1‑97 (MQ=255)                                                                                                            aTCGCCCTGCTGGTTTATTTATTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTa                                 <  1:183485/150‑1 (MQ=255)                                                                                                            aTCGCCCTGCTGGTTTATTTAGGCATCGCCGTTTTAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTa                                 <  1:267609/150‑1 (MQ=255)                                                                                                                   tgctgGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCt                                                                                     <  1:300782/91‑1 (MQ=255)                                                                                                                   tgctgGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCt                                                                                     >  2:300782/1‑91 (MQ=255)                                                                                                                     ctgGTTTATTGAGTCATCGGCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTa                        <  2:159645/150‑1 (MQ=255)                                                                                                                                    aTCGCCGTTTCAAAGTTGCTGATGCGGAAAATTCTGCGATCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCaa         <  1:385322/150‑1 (MQ=255)                                                                                                                                     tCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAAc        >  1:489475/1‑150 (MQ=255)                                                                                                                                           tttCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACGGTTAg  >  1:87699/1‑150 (MQ=255)                                                                                                                                                |                                                                                                                                                 CGTACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGTTAG  >  NC_000913_3_hsa_tpiA/2795253‑2795540

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: ‑