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%	133.3 / NA	42	A186E (GCA→GAA)	bglJ	bgl operon transcriptional activator
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (24/18);  total (24/18)

ACCGACCGACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGGGTTT  >  NC_000913_3_hsa_tpiA/4604553‑4604838                                                                                                                                                  |                                                                                                                                              accgaccgacTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACAATCCCTGcaca                                                                                                                                            >  2:224010/1‑149 (MQ=255)   cgaccgacTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGaac                                                                                                                                             <  2:508107/146‑1 (MQ=255)   cgaccgacTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGaac                                                                                                                                             >  1:508107/1‑146 (MQ=255)        gacTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGCCACAAATTGCCGAGCAGCTTCAACGCACTATCAAAACGTACCGTGACCATAAActt                                                                                                                                     >  1:395673/1‑149 (MQ=255)         acTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTa                                                                                                                                    >  1:298745/1‑149 (MQ=255)                aaTCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGAt                                                                                                                             >  1:400969/1‑149 (MQ=255)                 aTCAGTGGTACATTAAACAAAGCCGGACGTGAAGCCCGACGGAGAGAGAAATACTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATg                                                                                                                            <  1:524976/149‑1 (MQ=255)                  tCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGt                                                                                                                           >  2:481625/1‑149 (MQ=255)                  tCAGGGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGt                                                                                                                           <  2:660511/149‑1 (MQ=255)                      tGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGaa                                                                                                                       >  2:384149/1‑149 (MQ=255)                             ttAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAAAGTGATGTCGAAACTGGGc                                                                                                                >  2:286958/1‑149 (MQ=255)                             ttAAACAAAGCCGGACGATAAGCACGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGc                                                                                                                <  1:100554/149‑1 (MQ=255)                                              ttAAGCCCGGCGGAGAGAGAAATATTGCGGTTTATGTGGCGTGCCTACTCGATGACACTAATTTCCATGGGGCTTAAACGCAGTAGGAAAGCGAGCTGTGAACGTGAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAgg                                                                                               <  2:400969/149‑1 (MQ=255)                                              ttAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAgg                                                                                               <  1:26434/149‑1 (MQ=255)                                                     cGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTGGCAACTGGTCGTCAGTTCTGACGCAGGGttgttg                                                                                        <  2:147625/149‑1 (MQ=255)                                                          gagagagaAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGc                                                                                  <  1:139100/149‑1 (MQ=255)                                                            gagagaAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGCCg                                                                                >  2:639757/1‑149 (MQ=255)                                                              gaaaaaTATTGGGCGTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGCCGCa                                                                              <  2:369921/146‑1 (MQ=255)                                                               agaAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGCCGCAg                                                                             >  1:31178/1‑149 (MQ=255)                                                                gaAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATACGTGAGCATAAATTTACCCACAACGCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGCCGCAGa                                                                            >  1:469715/1‑149 (MQ=255)                                                                         cgcTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGCCGCAGATATTCTGtt                                                                   <  2:628651/149‑1 (MQ=255)                                                                                            aCTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGaa                                                >  1:550637/1‑149 (MQ=255)                                                                                             cTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGttgttg                                                                                        <  2:345213/109‑1 (MQ=255)                                                                                             cTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGttgttg                                                                                        >  1:345213/1‑109 (MQ=255)                                                                                                aaTGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGCCGCAGATATTCTGTTATGTATGCTGCATTGCGTAACaa                                            >  1:34556/1‑149 (MQ=255)                                                                                                aaTGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACaa                                            >  2:288713/1‑149 (MQ=255)                                                                                                 aTGACACAAATTGCCGAGCAGCTTATACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAGCTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAg                                           <  1:214999/149‑1 (MQ=255)                                                                                                  tGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGt                                          >  1:307493/1‑149 (MQ=255)                                                                                                    acacAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTaa                                        <  1:562893/149‑1 (MQ=255)                                                                                                      acaAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGAGATATAAAAACTGGGCGTCAGTTCTCAC‑CATGCGCGTAGCCATGCCTCATACATTCTGGTATGTATGCGGCATTGCGAAACAAGTAAtg                                      >  2:484314/1‑149 (MQ=255)                                                                                                      acaAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGCGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTCGTTG‑GAGGCCGCAGATATTCCGTTATGTATGCGGCATTGCGAAACAAGTAAtg                                      >  2:611078/1‑149 (MQ=255)                                                                                                        aaaTTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAg                                                                                                           <  1:523053/79‑1 (MQ=255)                                                                                                        aaaTTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAg                                                                                                           >  2:523053/1‑79 (MQ=255)                                                                                                                  gcagcTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCt                          >  1:464443/1‑149 (MQ=255)                                                                                                                    agcTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTACTGTGTTGCATCCCTAt                        <  1:593036/149‑1 (MQ=255)                                                                                                                    agcTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTAt                        >  1:629964/1‑149 (MQ=255)                                                                                                                      cTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTa                      >  2:666990/1‑149 (MQ=255)                                                                                                                       ttAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATTGTTTGCATCCCTATTaa                     >  2:566160/1‑149 (MQ=255)                                                                                                                       ttAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTaa                     >  1:359151/1‑149 (MQ=255)                                                                                                                         aaaCGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATc                   <  2:628269/149‑1 (MQ=255)                                                                                                                            cGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGc                <  2:298745/149‑1 (MQ=255)                                                                                                                                     aaaaCGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTA‑GAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAACGTGTTGCATCCCTATTAATCCGCATGATGccc       >  2:45202/1‑148 (MQ=255)                                                                                                                                      aaaCGATCCGTGAACATAAATTTAATGTGATGTCGGAACTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCgg      >  2:448396/1‑149 (MQ=255)                                                                                                                                      aaaCGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGGTCTGACGCAGGGTTGTTG‑GAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCgg      <  1:224010/149‑1 (MQ=255)                                                                                                                                          gcgccGTGAATATACATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGTCGGGttt  <  1:58602/146‑1 (MQ=255)                                                                                                                                                  |                                                                                                                                              ACCGACCGACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTG‑GAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGGGTTT  >  NC_000913_3_hsa_tpiA/4604553‑4604838

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: ‑