Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913	4,342,825	C→T	N305N (AAC→AAT)	melA →	alpha‑galactosidase

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913	4,342,825	0	C	T	100.0%	81.4 / NA	26	N305N (AAC→AAT)	melA	alpha‑galactosidase
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base T (14/12);  total (14/12)

CTGGCGGCTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAACTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGTCACGGGAATATGCCAGCACAATCATGAACGCTATCTGGACTGGCGAGCCGAGTGTGATTTACGGCAACGTCCGTAACGATGGTTTGATTGATAACCTGCCACAAGGATGTTGCGTGGAAGTAGCCTGTCTGGTTGATGCTAATGGCATTCAGCCGACCAAAGTCGGTACGCTACCTTCGCAT  >  NC_000913/4342589‑4343062                                                                                                                                                                                                                                             |                                                                                                                                                                                                                                              ctgGCGGCTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAATTGGCATAAAGAGCt                                                                                                                                                                                                                                 >  1:10127/1‑251 (MQ=255)              aaGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAATTGGCATAAAGAGCTGGAGGAGTATaa                                                                                                                                                                                                                     >  1:179123/1‑250 (MQ=255)                           aCCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAATTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGa                                                                                                                                                                                                       <  2:28462/251‑1 (MQ=255)                                      atatTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGCGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAATTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTaa                                                                                                                                                                                             >  2:185671/1‑250 (MQ=255)                                        atTCATGGCAATACTCGCTGCTATGATAGGGTTAGCTGCGAAATGTTCAAAGAGCTGGGCTATTTCGTCACGGAATCGTCAGAGCATTTTGCTGAGTACACGCCTTGGGGTATTAAGCCATGTCGTGAGGATGTGATTGAGCGTTATAAAGTGCCGCTGGATGAGTAGTCGAAACGGTGCGTCGAGCAGCTGGCGAATTGGCAGAAAGAGCTGGAGTGGTATAAAAAAGCCGCGCGGATTGatagcaatct                                                                                                                                                                                          <  2:47885/251‑8 (MQ=255)                                         ttCATGGCAATACTCGCTGCCAGAATCTTATGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAATTGGCATAAAGAGCTGGAGTAGTATAAAAAAGCCTCCCGGATTGATATTCAACCg                                                                                                                                                                                         >  2:247870/1‑251 (MQ=255)                                          tCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAAAATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGAACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAATTGGCATAAAGAGCTGGAGGAGTATACAAAAGCCTCCCGGATTGCTATTAAACCGt                                                                                                                                                                                        >  2:293741/1‑251 (MQ=255)                                           cATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAATTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGt                                                                                                                                                                                        <  2:224122/250‑1 (MQ=255)                                                cAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAATTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGTCACggg                                                                                                                                                                                  <  2:174572/251‑1 (MQ=255)                                                             caaaaTATTGTCCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAATTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGTCACGGGAATATGCCAGcac                                                                                                                                                                     >  2:203054/4‑251 (MQ=255)                                                                              cGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGCAATCGTCAGAACATTTTGCTGAGTACACAACGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATCAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAATTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGTCACGGGAATATGCCAGCACAATCATGAACGCTATCt                                                                                                                                                    >  2:52778/1‑251 (MQ=255)                                                                                    gTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAATTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGTCACGGGAATATGCCAGCACAATCATGAACGCTATCTGGACTg                                                                                                                                              <  1:81424/251‑1 (MQ=255)                                                                                     ttCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAATTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGTCACGGGAATATGCCAGCACAATCATGAACGCTATCTGGACTgg                                                                                                                                             >  1:250719/1‑251 (MQ=255)                                                                                        aaaaaGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGGGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAATTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGTCACGGGAATATGCCAGCACAATCATGAACGCTATCTGGACTGGCg                                                                                                                                           >  1:287925/1‑250 (MQ=255)                                                                                                              cGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAATTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGTCACGGGAATATGCCAGCACAATCATGAACGCTATCTGGACTGGCGAGCCGAGTGTGATTTACGGCAAc                                                                                                                    <  2:13051/251‑1 (MQ=255)                                                                                                              cGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAATTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGTCACGGGAATATGCCAGCACAATCATGAACGCTATCTGGACTGGCGAGCCGAGTGTGATTTACGGCAAc                                                                                                                    <  2:40653/251‑1 (MQ=255)                                                                                                                         gAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAATTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGTCACGGGAATATGCCAGCACAATCATGAACGCTATCTGGACTGGCGAGCCGAGTGTGATTTACGGCAACGTCCGTAACg                                                                                                          >  1:22810/1‑250 (MQ=255)                                                                                                                          aaCATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAATTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGTCACGGGAATATGCCAGCACAATCATGAACGCTATCTGGACTGGCGAGCCGAGTGTGATTTACGGCAACGTCCGTAACGAt                                                                                                        <  1:209988/251‑1 (MQ=255)                                                                                                                                                                                             aGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAATTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGTCACGGGAATATGCCAGCACAATCATGAACGCTATCTGGACTGGCGAGCCGAGTGTGATTTACGGCAACGTCCGTAACGATGGTTTGATTGATAACCTGCCACAAGGATGTTGCGTGGAAGTAGCCTGTCTGGTTGATGCTAATGGc                                      >  1:8205/1‑250 (MQ=255)                                                                                                                                                                                             aGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAATTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGTCACGGGAATATGCCAGCACAATCATGAACGCTATCTGGACTGGCGAGCCGAGTGTGATTTACGGCAACGTCCGTAACGATGGTTTGATTGATAACCTGCCACAAGGATGTTGCGTGGAAGTAGCCTGTCTGGTTGATGCTAATGGCa                                     <  2:8205/251‑1 (MQ=255)                                                                                                                                                                                                   gCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAATTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGTCACGGGAATATGCCAGCACAATCATGAACGCTATCTGGACTGGCGAGCCGAGTGTGATTTACGGCAACGTCCGTAACGATGGTTTGATTGATAACCTGCCACAAGGATGTTGCGTGGAAGTAGCCTGTCTGGTTGATGCTAATGGCATTCAGc                               >  1:41930/1‑251 (MQ=255)                                                                                                                                                                                                       gATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAATTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGTCACGGGAATATGCCAGCACAATCATGAACGCTATCTGGACTGGCGAGCCGAGTGTGATTTACGGCAACGTCCGTAACGATGGTTTGATTGATAACCTGCCACAAGGATGTTGCGTGGAAGTAGCCTGTCTGGTTGATGCTAATGGCATTCAGCCGAc                           <  1:57039/251‑1 (MQ=255)                                                                                                                                                                                                               cccGGAACGCTGGGGCGAACAGTTGGCGAATGGGCATAAAGAGCGGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAGCCGTCACGGGAATATGCCAGCACAATAATGAACGCTAGCTGGACTGGCGAGCAGAGTGTGATTTACGGCAACGTCCGTAACGATGGTTTGATTGATAACCGGCCACAAGTATGGTGCGTGGAAGTAGCCTGTCTGGTTGATGCTAATGGCATTCAGCCGATTAAAGTCg                   <  2:186284/251‑1 (MQ=255)                                                                                                                                                                                                                           cGTCGAGCAGCTGGCGAATTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGTCACGGGAATATGCCAGCACAATCATGAACGCTATCTGGACTGGCGAGCCGAGTGTGATTTACGGCAACGTCCGTAACGATGGTTTGATTGATAACCTGCCACAAGGATGTTGCGTGGAAGTAGCCTGTCTGGTTGATGCTAATGGCATTCAGCCGACCAAAGTCGGTACGCTACCtt       >  2:85829/1‑251 (MQ=255)                                                                                                                                                                                                                                ggcagcGGGCGAATTGGCATAAAGAGCGGGAGGAGTAAAAAAAAGCCTCCTGGATTGATATTAAACCGTCACGGGAATAGGCCAGCACAATCATGAACGCTATCTGGACTGGCGAGCCGAGTGTGAATTACGGCAACGTCCGTAACGATGGTTTGATTGATAACCTGCCACAAGGATGTTGCGTGGAAGTAGCCTGTCTGGTTGATGCTAATGGCATTCAGCCGACCAAAGTCGGTACGCTACCTTCGCAt  <  2:208453/250‑1 (MQ=255)                                                                                                                                                                                                                                agcagcTGGCGAATTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGTCACGGGAATATGCCAGCACAATCATGAACGCTATCTGGACTGGCGAGCCGAGTGTGATTTACGGCAACGTCCGTAACGATGGTTTGATTGATAACCTGCCACAAGGATGTTGCGTGGAAGTAGCCTGTCTGGTTGATGCTAATGGCATTCAGCCGACCAAAGTCGGTACGCTACCTTCGCAt  >  2:126097/1‑251 (MQ=255)                                                                                                                                                                                                                                             |                                                                                                                                                                                                                                              CTGGCGGCTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGCTGGGCTATTTCGTCACGGAATCGTCAGAACATTTTGCTGAGTACACACCGTGGTTTATTAAGCCAGGTCGTGAGGATTTGATTGAGCGTTATAAAGTACCGCTGGATGAGTACCCGAAACGCTGCGTCGAGCAGCTGGCGAACTGGCATAAAGAGCTGGAGGAGTATAAAAAAGCCTCCCGGATTGATATTAAACCGTCACGGGAATATGCCAGCACAATCATGAACGCTATCTGGACTGGCGAGCCGAGTGTGATTTACGGCAACGTCCGTAACGATGGTTTGATTGATAACCTGCCACAAGGATGTTGCGTGGAAGTAGCCTGTCTGGTTGATGCTAATGGCATTCAGCCGACCAAAGTCGGTACGCTACCTTCGCAT  >  NC_000913/4342589‑4343062

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 16 ≤ ATCG/ATCG < 34 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑