Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	4,604,698	C→A	A186E (GCA→GAA)	bglJ →	bgl operon transcriptional activator

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	4,604,698	0	C	A	100.0%	151.9 / NA	49	A186E (GCA→GAA)	bglJ	bgl operon transcriptional activator
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (27/22);  total (27/22)

CCGACCGACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGG  >  NC_000913_3_hsa_tpiA/4604554‑4604834                                                                                                                                                  |                                                                                                                                         ccgaccgacTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACAt                                                                                                                                      >  2:729984/1‑149 (MQ=255)            aaCAATCAGTGGTACATTAACCAAAGCCGGACGTTAGGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTCAACGCA‑ATATCAAAACGATCAGTGAACATAAATTTAAtgt                                                                                                                           >  1:110159/1‑149 (MQ=255)             aCAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAAtgtg                                                                                                                          >  2:310689/1‑149 (MQ=255)               aaTCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAAGGCA‑ATATCAAAAAGATCCGTGAAAATAACTTTAATGTGAt                                                                                                                        >  1:173570/1‑149 (MQ=255)                       gTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAAc                                                                                                                >  1:89943/1‑149 (MQ=255)                       gTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAAc                                                                                                                >  2:617777/1‑149 (MQ=255)                       gTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAAc                                                                                                                >  2:17294/1‑149 (MQ=255)                          cATTAACCAAAGCCGGACGTTAAGCCCGATGGAGAGAGAATTGTTTCTCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTgg                                                                                                             <  1:475886/149‑1 (MQ=255)                           aTTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTc                                                                                                                     <  2:258200/140‑1 (MQ=255)                           aTTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTc                                                                                                                     >  1:258200/1‑140 (MQ=255)                            ttAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGACTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATACGTGAACATAAATTTAAAGTGATGTCGAAACTTGGc                                                                                                           >  2:162461/1‑149 (MQ=255)                                    aGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTc                                                                                                   <  1:729984/149‑1 (MQ=255)                                      gcGGACGTTAAGGCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTg                                                                                                 <  2:393718/148‑1 (MQ=255)                                       cGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGGTGTCGCAACTGGGCGTCAGTTCTGa                                                                                                >  1:535432/1‑149 (MQ=255)                                       cGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGa                                                                                                <  1:523304/149‑1 (MQ=255)                                            gTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAg                                                                                           >  2:229316/1‑149 (MQ=255)                                            gTTAAGCCCGACGGAGAGAGAAATATTGCGATTTATGTCGCGTGGCTACTCAATGACACAAATTTCGGAGCAACTTAAACGCA‑ATATCAAAACGATCAGTGAAAATAAATTTAATGTGCTGTCGAAAATGGGAGTCAGTTCTAACGccg                                                                                           >  2:277149/1‑147 (MQ=255)                                              tAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGATACTCAATGACACAAATTGCCGAGCGGCTTAAACGCA‑ATATCAAAACGATCCGTGAAGATGAATTGAATGTGATGTCGAAACTGGGTGTCAGTTCTGACGCAggg                                                                                         >  1:688451/1‑149 (MQ=255)                                                     gACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTgg                                                                                  <  1:45722/149‑1 (MQ=255)                                                     gACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTgg                                                                                  >  2:714483/1‑149 (MQ=255)                                                      aCGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGa                                                                                 <  1:526081/149‑1 (MQ=255)                                                              agaAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAg                                                                         >  2:813766/1‑149 (MQ=255)                                                                   tatTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGAA‑ATAACAAAACGATCAGTGAACATAAAATTAATGTGATGTCGAAACTGGGCGTCAGTTCAGACGCAGGGTTTGTGGAGCCCGCAGGTAtt                                                                    >  2:405388/1‑149 (MQ=255)                                                                      tGCGCTTTATGCCGAGTGGCTAATCAATGAAACAAATGTCCGAGCATCTTAAATTCA‑ATATCAAAACGATCCGGGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTg                                                                 <  2:404092/149‑1 (MQ=255)                                                                       gcgcTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGTA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGt                                                                <  2:684935/149‑1 (MQ=255)                                                                        cgcTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGtt                                                               <  2:262325/149‑1 (MQ=255)                                                                         gcTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTACA‑GCACGAATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAATCTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTta                                                              <  1:208673/149‑1 (MQ=255)                                                                                gTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCAGTGAACTTAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGc                                                       <  1:891037/149‑1 (MQ=255)                                                                                    cgTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCa                                                   <  1:229316/149‑1 (MQ=255)                                                                                     gTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCAt                                                  >  1:428659/1‑149 (MQ=255)                                                                                      tGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCAtt                                                 <  2:523229/149‑1 (MQ=255)                                                                                             tCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCCGATATTCTGTTATGTATACGGCATTGAGaagc                                          >  2:511252/1‑147 (MQ=255)                                                                                               aaTGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACaa                                        <  1:617777/149‑1 (MQ=255)                                                                                               aaTGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACaa                                        >  2:263037/1‑149 (MQ=255)                                                                                               aaTGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACaa                                        >  1:194526/1‑149 (MQ=255)                                                                                                     acaAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTAGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAAtg                                  >  2:554044/1‑149 (MQ=255)                                                                                                        aaTTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATgtgt                               >  2:432694/1‑149 (MQ=255)                                                                                                             ccGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCAt                          <  1:714483/149‑1 (MQ=255)                                                                                                              cGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTtatgtat                                                         >  2:13894/1‑117 (MQ=255)                                                                                                              cGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTtatgtat                                                         <  1:13894/117‑1 (MQ=255)                                                                                                                  cagcTTAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGGGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTa                     <  2:521787/149‑1 (MQ=255)                                                                                                                      ttAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCg                                                      <  2:298151/112‑1 (MQ=255)                                                                                                                      ttAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCg                                                      >  1:298151/1‑112 (MQ=255)                                                                                                                       tAAACGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAAt                <  1:813766/149‑1 (MQ=255)                                                                                                                         aaCGCA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATcc              <  1:263037/149‑1 (MQ=255)                                                                                                                             cA‑ATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTATTATGTATGCGGCATTGCGAGACAAGTAATGTGTTGCATCCCTATTAATCCGCat          >  1:807007/1‑149 (MQ=255)                                                                                                                                      aaaCGATCCGTGAACATACATTTAATGTTATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATTCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCgg  >  2:691608/1‑149 (MQ=255)                                                                                                                                       aaCGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACaa                                        <  2:21356/110‑1 (MQ=255)                                                                                                                                       aaCGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACaa                                        >  1:21356/1‑110 (MQ=255)                                                                                                                                                  |                                                                                                                                         CCGACCGACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCA‑ATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGG  >  NC_000913_3_hsa_tpiA/4604554‑4604834

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑