Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913	4,342,451	G→A	E181K (GAA→AAA)	melA →	alpha‑galactosidase

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913	4,342,451	0	G	A	100.0%	31.6 / NA	13	E181K (GAA→AAA)	melA	alpha‑galactosidase
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base A (8/5);  total (8/5)

GTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACGTTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTGCGAGGACATGACGGAAGTCTGCCCCGATGCCACCATGCTCAACTATGTTAACCCAATGGCGATGAATACCTGGGCGATGTATGCCCGCTATCCGCATATCAAACAGGTCGGGCTGTGCCATTCGGTGCAGGGAACGGCGGAAGAGTTGGCGCGTGACCTCAATATCGACCCAGCTACGCTGCGTTACCGTTGCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTATGTGAATCTCTACCCGGAACTGCTGGCGGCTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGC  >  NC_000913/4342211‑4342682                                                                                                                                                                                                                                                 |                                                                                                                                                                                                                                        ggcTGTAAGCGGCATGGGCTGGAACAAACCATTGCCGCTACGTTGGGGCCGGGCGGTTTTCTGCGCGCGCTAAGTACCATTCCGCATCTGCGGCAAATTTGCGAGGACATGACGGAAGTCTGCCCCGATGCCACCATGCTCCACTATGTTAACCCAATGGCGATGAATACCTGGGCGATGTCTGCCCGCTATCCGCATATCAAACAGGTCGGGCTGTGCCATTCGGTGCAGGGAACGGCGAAAGAGTTGgc                                                                                                                                                                                                                               >  1:310634/3‑251 (MQ=255)                                                 ccGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTGCGAGGACATGACGGAAGTCTGCCCCGATGCCACCATGCTCAACTATGTTAACCCAATGGCGATGAATACCTGGGCGATGTATGCCCGCTATCCGCATATCAAACAGGTCGGGCTGTGCCATTCGGTGCAGGGAACGGCGAAAGAGTTGGCGCGTGACCTCAATATCGan                                                                                                                                                                                                            <  1:66992/222‑2 (MQ=255)                                                       ggTATTATGCGCGCGCTACGTACCATTCCGCATCTTTGGCAAATTTGCGAGGACATGACGGAAGTCTGCCCCGATGCCACCATGCTCAACTATGTTAACACAATGGCGATGAATACCTGGGCGATGTATGCCCGCGAGCCGCATATCAAACAGGTCGGTCTGTGCCATTCGGTGCATGTAACGGCGAAAGAGTTGGCGCGTGACCTCAATATCGACCCAGCTACGCTGCGTTACCGTTGCGCATGTATCaa                                                                                                                                                                         <  1:273509/251‑1 (MQ=255)                                                                    cgcTACGTACCATTCCGCATCTGTGGCAAATTTGCGAGGACATGACGGAAGCCTGCCCCGATGTCACCATGCTCCCCTTTGTTCACCCAATGGCGATGACTACCTCGGCGATGTATGCCAGCTATCCGCATATCACACAGGTCGGGCTGTGCCATTCGGTGCAGGGCACGGCGAAAGAGTTGGCGCGTGACCTCAATATCGACCCAGCTACGCTGCGTTACCGTTGCGCAGGTATCAACCATATGGCGttt                                                                                                                                                            >  1:286627/1‑251 (MQ=255)                                                                                                            cATGACGGAAGTCTGCCCCGATGCCACCATGCTCAACTATGTTAACCCACTGGCGATGAATACCTGGGCGATGTATGCCCGCTATCCGCATATCAAACAGGTCGGGCTGTGCCATTCGGTGCAGGGAACGGCGAAAGAGTTGGCGCGTGACCTCAATATCGACCCAGCTACGCTGCGTTACCGTTGCGCAGGTATCAACCATATGGCGTTTTCCCTGGAGCTGGAGCGCAAAACCGCCGAAGGCAGTTAtg                                                                                                                    >  1:160795/1‑251 (MQ=255)                                                                                                               gACGGAAGTCTGCCCCGATGCCACCATGCTCAACTATGTTAACCCAATGGCGATGAATACCCGGGCGATGTATGCCCGCTATCCGCATATCAAAAAGGTCGGGCTGTGCCATTCGGTGCAGGGAACGGCGAAAGAGTTGGCGCGTg                                                                                                                                                                                                                          >  1:124488/1‑146 (MQ=255)                                                                                                                                               aCTATGTTAACACAATGGCGATGAATACATGGGCGATGGATGCCCGCTATCAGCATATCAAACAGGTCGGGCTGTGCCATTCGGAGCAGGGAAGGGCGAAAGAGTTGGCGCGTGACCTCAATATAGACAAAGCTACGCTGAGTTACCGTTGCGCAGGTATAAACCATATGGCGTTTTACCTGGCGCTGGAGCGCAACACCGCCGACGGCAGTTATGTGAATATCTACCCAGAACTGCTGGCGCCTTATGa                                                                                  >  1:219921/1‑250 (MQ=255)                                                                                                                                                                              ggCGATGTATGCCCGCTATCCGCAGATCAAACAGGTCGGGCTGTGCCAGTCGGGGCAGGGAACGGCGAAAGAGTTGGCGCGTGACCTCAATATCGACCCAGCTAc                                                                                                                                                                                                    <  1:188108/105‑1 (MQ=255)                                                                                                                                                                                        gCCCGCTATCCGCATATCAAACATGTCGGGCTGTGCCATTCGGTTCATGGAACGGCTAAAGAGTTGGCGCGTGACCTCAATATCGACCCAGCTACg                                                                                                                                                                                                   <  1:219146/96‑1 (MQ=255)                                                                                                                                                                                         cccacTATCCGCATATCAAACAGGTCGGGCTGTGCCATTTGGTGCAGGGAACGGCGAAAGAGTTGGCGCGTGACCTCAATATCGACCCAGCTACGCTGCGTTACCGTTGCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTATGTGa                                                                                                                 >  1:275184/5‑177 (MQ=255)                                                                                                                                                                                                             cAGGTCGGGCTGTGCCATTCGGTGCAGGGAACGGCGAAAGAGTTGGCGCGTGACCTACATATCGAACCAGCTACGCTGCGTTACCGTTGCGCAGGTATCAACCATATGGCGTTTTCCCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTATGTGAATCTATACCCAGCACTGCTGGCGACTTATGAAGCAGGGCAGGCACCGAAGCCGAATCTTCATGGCAATACTCGCTGCCAGAATATTGTGCGCt                    >  1:320227/1‑250 (MQ=255)                                                                                                                                                                                                                        gtgCCATTCGGTGCAGGGAACGGCGAAAGAGTTGGCGCGTGACCTCAATATCGACCCAGCTACGCTGCGTTACCGTTGCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTATGTGAATCTCTACCCAGAACTGCTGGCGACTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTc         >  1:274354/1‑250 (MQ=255)                                                                                                                                                                                                                               tCGGTGCAGGGAACGGCGAAAGAGTTGGCGCGTGACCTCAATATCGCCCCAGCTACGCTGCGTTACCGTTGCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTATGTGAATCTCTACCCAGAACTGCTGGCGACTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGc  <  1:21879/250‑1 (MQ=255)                                                                                                                                                                                                                                                 |                                                                                                                                                                                                                                        GTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACGTTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTGCGAGGACATGACGGAAGTCTGCCCCGATGCCACCATGCTCAACTATGTTAACCCAATGGCGATGAATACCTGGGCGATGTATGCCCGCTATCCGCATATCAAACAGGTCGGGCTGTGCCATTCGGTGCAGGGAACGGCGGAAGAGTTGGCGCGTGACCTCAATATCGACCCAGCTACGCTGCGTTACCGTTGCGCAGGTATCAACCATATGGCGTTTTACCTGGAGCTGGAGCGCAAAACCGCCGACGGCAGTTATGTGAATCTCTACCCGGAACTGCTGGCGGCTTATGAAGCAGGGCAGGCACCGAAGCCGAATATTCATGGCAATACTCGCTGCCAGAATATTGTGCGCTACGAAATGTTCAAAAAGC  >  NC_000913/4342211‑4342682

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 29 ≤ ATCG/ATCG < 38 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑