Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	3,560,455	+G	intergenic (‑2/+1)	glpR ← / ← glpR	pseudogene, DNA‑binding transcriptional repressor;regulator; Energy metabolism, carbon: Anaerobic respiration; repressor of the glp operon/pseudogene, DNA‑binding transcriptional repressor;regulator; Energy metabolism, carbon: Anaerobic respiration; repressor of the glp operon

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	3,560,455	1	.	G	97.9%	164.0 / ‑3.1	48	intergenic (‑2/+1)	glpR/glpR	pseudogene, DNA‑binding transcriptional repressor;regulator; Energy metabolism, carbon: Anaerobic respiration; repressor of the glp operon/pseudogene, DNA‑binding transcriptional repressor;regulator; Energy metabolism, carbon: Anaerobic respiration; repressor of the glp operon
Reads supporting (aligned to +/- strand):  ref base . (0/1);  new base G (21/26);  total (21/27)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.92e-01

GCCGATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGC‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTGTGT  >  NC_000913_3_hsa_tpiA/3560307‑3560596                                                                                                                                                       |                                                                                                                                              gcagATATCGATAAACAGGGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGc                                                                                                                                                <  2:687441/146‑1 (MQ=255)    gATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGcgca                                                                                                                                             <  1:864551/149‑4 (MQ=255)    gATATCGATAAACAGCGTCGAGCCATTGGGGATCTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCGGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGcgca                                                                                                                                             <  1:472086/149‑4 (MQ=255)      tatCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGGAGGCAGCGCCGCACCGCCATGAT‑GGcgcagg                                                                                                                                           <  2:23740/149‑6 (MQ=255)       atCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGa                                                                                                                                          <  1:889799/149‑1 (MQ=255)       atCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGa                                                                                                                                          >  2:1045930/1‑149 (MQ=255)          gATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCa                                                                                                                                       <  2:907444/149‑1 (MQ=255)           aTAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAg                                                                                                                                      >  1:699500/1‑149 (MQ=255)               aCAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GACGCAGGATCAGGttt                                                                                                                                  >  2:365529/1‑149 (MQ=255)               aCAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCACTTTTTCTTCGGTCTGGGGGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACAGCCATGAT‑CGCGCACGATCAGGttt                                                                                                                                  >  2:574391/1‑149 (MQ=255)                          ccATTGGGGAGTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAg                                                                                                                       <  1:165486/149‑1 (MQ=255)                           cATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGc                                                                                                                      >  1:793572/1‑149 (MQ=255)                                  gATTTGCTCCGCCAGTTTGCGGGGGATGCGCTCTTTTTTTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGa                                                                                                               <  2:759594/149‑1 (MQ=255)                                   aTTTGCTCCGCCACTTTGCGGGCGATGCGCGCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAg                                                                                                              <  1:435958/149‑1 (MQ=255)                                       gCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCTGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTcg                                                                                                          >  2:798396/1‑149 (MQ=255)                                          ccGCCACTTTGCGGGCGATGCGCTCTTTTTCGTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCgcgg                                                                                                       <  2:95414/149‑1 (MQ=255)                                           cGCCACGTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCCTTACACCGGCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCgcggc                                                                                                      <  1:987957/149‑1 (MQ=255)                                                        gCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGACTGCgg                                                                                         >  2:558971/1‑149 (MQ=255)                                                          gATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGc                                                                                       >  2:772882/1‑149 (MQ=255)                                                          gATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGc                                                                                       >  2:772965/1‑149 (MQ=255)                                                                 tctTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGga                                                                                >  2:850374/1‑149 (MQ=255)                                                                  ctTTTTTTTCGGTCGGGGTGGCCTTGCGATCGGGCCACGGGGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGgag                                                                               <  2:627601/149‑1 (MQ=255)                                                                  ctTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGgag                                                                               <  1:603704/149‑1 (MQ=255)                                                                   tttttCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGgaga                                                                              >  2:153064/1‑149 (MQ=255)                                                                    tgttcttaGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGaa                                                                             <  1:368540/147‑1 (MQ=255)                                                                                  ggTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGGATacgc                                                                                              <  2:446819/118‑4 (MQ=255)                                                                                  ggTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTc                                                                                              >  1:446819/1‑118 (MQ=255)                                                                                    tGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGctct                                                             >  1:172621/1‑149 (MQ=255)                                                                                    tGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGcctt                                                             >  2:417186/1‑146 (MQ=255)                                                                                       ccTTGCTATCGTGCCACGGCGTCTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCg                                                          <  1:278211/149‑1 (MQ=255)                                                                                        cTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCCCCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCgg                                                         >  2:1668/1‑149 (MQ=255)                                                                                        cTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCgg                                                         >  1:961058/1‑149 (MQ=255)                                                                                           gCGATCGTGCCACGGCGTGTTAACCCAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCTAGCTCATTGAGGTCGCGGCGTATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTAc                                                      <  1:946530/149‑1 (MQ=255)                                                                                               tCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAg                                                                 >  2:651914/1‑134 (MQ=255)                                                                                               tCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAg                                                                 <  1:651914/134‑1 (MQ=255)                                                                                                 gTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACAt                                                <  1:1045930/149‑1 (MQ=255)                                                                                                   gCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATaa                                              <  1:558971/149‑1 (MQ=255)                                                                                                   gCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATaa                                              >  1:26431/1‑149 (MQ=255)                                                                                                     cACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAAcc                                            <  1:641109/149‑1 (MQ=255)                                                                                                       cGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCct                                          <  1:1668/149‑1 (MQ=255)                                                                                                             gtTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGtt                                    <  1:436041/149‑1 (MQ=255)                                                                                                              ttAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGttt                                   <  1:307430/149‑1 (MQ=255)                                                                                                              ttAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGttt                                   >  1:776341/1‑149 (MQ=255)                                                                                                                 agcGAACGGGAAGGCAGCGCCGCAGCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCTGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAAc                                <  2:335688/147‑1 (MQ=255)                                                                                                                     aaCTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGt                            <  2:751464/149‑1 (MQ=255)                                                                                                                      agtGGAAGGGAGCGCCGCACCGCCATGATGGGG‑CAGGATCAGGTTTTGCGCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGtt                           <  2:472557/147‑1 (MQ=255)                                                                                                                       ttGGAAGGCAGTGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGTAGAGGCTGCGTTCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAATCCTGCTGTTTAACCAGTTc                          <  2:116962/148‑1 (MQ=255)                                                                                                                        tGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCATTTCg                         >  2:305022/1‑149 (MQ=255)                                                                                                                              gCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGataata                   >  2:21559/1‑149 (MQ=255)                                                                                                                                   gccgcACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGtt              <  2:961058/149‑1 (MQ=255)                                                                                                                                          cgggatgat‑gGCGCAGGATCAGGTTTTGCTCTGTCAGCTCGTTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATACACCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGt       <  2:424670/145‑1 (MQ=255)                                                                                                                                               tgat‑gGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTgtgt  <  1:840946/149‑1 (MQ=255)                                                                                                                                                       |                                                                                                                                              GCCGATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGC‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTGTGT  >  NC_000913_3_hsa_tpiA/3560307‑3560596

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: ‑