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	98.1%	172.3 / ‑3.5	52	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 (23/28);  total (23/29)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.64e-01

ATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGC‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGT  >  NC_000913_3_hsa_tpiA/3560311‑3560591                                                                                                                                                   |                                                                                                                                         atatCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGcgcag                                                                                                                                       >  2:880825/1‑145 (MQ=255)   atCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGa                                                                                                                                     >  2:825055/1‑149 (MQ=255)           aCAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGttt                                                                                                                             <  1:825055/149‑1 (MQ=255)           aCAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGttt                                                                                                                             <  1:666042/149‑1 (MQ=255)             aGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCCTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTg                                                                                                                           <  1:1026843/149‑1 (MQ=255)                      ccATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGACACGGCGTGTTAACCGGACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGCTTTTGCCCCGCCac                                                                                                                  >  2:758244/1‑148 (MQ=255)                        aTTGGGGGTTTGCTCCGCCACTTTGCGGGCGATGCGATCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCGGGTTTTGCTCCGCCAGCt                                                                                                                >  2:662646/1‑149 (MQ=255)                          tGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATACAGTTTGGCTCCGCCCGCTCa                                                                                                              >  2:280626/1‑149 (MQ=255)                            gggATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCAtt                                                                                                            >  1:1127712/1‑149 (MQ=255)                               aTTTGCTCCGCCACTTGTCTGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAg                                                                                                         <  2:632298/149‑1 (MQ=255)                                    cTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTcgc                                                                                                    <  1:88201/149‑1 (MQ=255)                                     tCCGCCACTTTGCGGGCGCCGCGCGCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCCGCTCATTGAGGTcgcg                                                                                                   >  2:670064/1‑149 (MQ=255)                                      ccGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCgcgg                                                                                                  <  1:289787/149‑1 (MQ=255)                                       cGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCgcggc                                                                                                 <  1:939662/149‑1 (MQ=255)                                           aCTTTGCGAGCGATGCGCTCTTTTTCTTCGGACTGGGTGGCCTTGCGCTCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCCGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGGAt                                                                                             >  1:943155/1‑149 (MQ=255)                                            ctctGCGCGCGGTGCGGTGTTTTTCGCCGGTCGGGGTGGCATTGCGATCGGGCCACGGCGTGTTAACCGAACTGGAAGGGAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATa                                                                                            <  1:167280/146‑1 (MQ=255)                                                 cGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGttt                                                                                                                             >  1:46528/1‑111 (MQ=255)                                                 cGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGttt                                                                                                                             <  2:46528/111‑1 (MQ=255)                                                    gCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCgg                                                                                    <  2:865664/149‑1 (MQ=255)                                                     cGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCggg                                                                                   <  1:875235/149‑1 (MQ=255)                                                      gATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGc                                                                                  <  2:882656/149‑1 (MQ=255)                                                          cgcTCTTTTTCTTCGGTCTGGTTAGCCTTCCGATCGTGCCACGGCGTGTTAACCGAATTAGAAGGCAGCGCCGCACCGCCATCAT‑AGCGCAGGGTCAGGTTTTGCTCCGCCAGCTCGTTGAGGTCCCGGTGAATAGTGTACAGGCTTAc                                                                              >  2:1056928/1‑149 (MQ=255)                                                           gcTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACg                                                                             >  1:791439/1‑149 (MQ=255)                                                              ctTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGgag                                                                          >  1:452425/1‑149 (MQ=255)                                                                ttttCTTCGGTCTGGGGGGCCTTGGGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATTATGGGG‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGaa                                                                        <  1:211311/149‑1 (MQ=255)                                                                  ttcttcGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAAt                                                                      >  2:1067336/1‑149 (MQ=255)                                                                   tcttcGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGCCGGAGAAATg                                                                     >  2:672670/1‑149 (MQ=255)                                                                      tcGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGCCGAATAGTCTGCGGGCTGACGGAGAAATGctc                                                                  <  2:1127712/149‑1 (MQ=255)                                                                           cTGGGTGGCCTTGTGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCa                                                             <  1:44433/149‑1 (MQ=255)                                                                            tGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAg                                                            <  1:1067336/149‑1 (MQ=255)                                                                             gggTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGc                                                           >  1:49662/1‑149 (MQ=255)                                                                                tGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGctct                                                        >  2:851336/1‑149 (MQ=255)                                                                                 ggCGTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTTCTCCGCTAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCtt                                                       <  1:461743/149‑1 (MQ=255)                                                                                 ggCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCtt                                                       <  1:851336/149‑1 (MQ=255)                                                                                    cTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGATTTTGCTCCGCCAGCTCATTGAGGGCGCGGCGAATAGTCTGCGGGCTGAAGTAGAAATGCGATACCAGCTCTTCgg                                                    >  1:1166816/1‑149 (MQ=255)                                                                                       gcgcTCGGGGCATGGTGTGTTAACCGAATGGGGAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGATGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTAc                                                 <  2:516342/149‑1 (MQ=255)                                                                                       gCGAGCGTGCCACGGCGTGTTAACCGAACTGGTAGGCAGGGTGGCACCGCCTTGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTGATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTAc                                                 <  2:943155/149‑1 (MQ=255)                                                                                         gATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTg                                               >  2:1137567/1‑149 (MQ=255)                                                                                           tCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAg                                                            >  1:556808/1‑134 (MQ=255)                                                                                           tCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAg                                                            <  2:556808/134‑1 (MQ=255)                                                                                             gTGCCACGGCGTGTTAACCGAACTGGAAGGCATCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAACTGCTATACCAGCTCTTCGGTACAGACAt                                           >  1:405452/1‑149 (MQ=255)                                                                                                 cACGGCGCGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCCAATAGTCTCCGGGCTGACGGAGCAATCCTCTACCAGCCCCTCGGCACTGCCATAAcc                                       >  2:690011/1‑149 (MQ=255)                                                                                                        tgtTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGt                                >  1:709982/1‑149 (MQ=255)                                                                                                          ttAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGttt                              >  2:684653/1‑149 (MQ=255)                                                                                                               cGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCa                         <  1:471581/149‑1 (MQ=255)                                                                                                                  aCTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGtt                      <  1:406663/149‑1 (MQ=255)                                                                                                                   cTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTc                     <  2:452425/149‑1 (MQ=255)                                                                                                                     gagaGGCAGCGCGGCCCCGCACTGAT‑GGCGCATGATCATGTTTTGCGCCGCTAGCGCATTGAGGTCGCGGCGAATAGTCTGCTGCTTGCCGGAGAAATTCTCTACCAGCCCTTCGGTACTGACATAACCCTGCGGTTTAACCAGTTCGa                   <  1:167948/146‑1 (MQ=255)                                                                                                                      gAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGat                  <  1:880825/149‑1 (MQ=255)                                                                                                                        aGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGataa                >  2:968667/1‑149 (MQ=255)                                                                                                                          gCAGCGCCGCACCGCCATGAT‑GGCGCACGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGataata              <  2:157090/149‑1 (MQ=255)                                                                                                                                 cgcACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTtgt       <  2:924913/149‑1 (MQ=255)                                                                                                                                      cGCCATGGT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCACTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGt  <  2:740348/149‑1 (MQ=255)                                                                                                                                                   |                                                                                                                                         ATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGC‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGT  >  NC_000913_3_hsa_tpiA/3560311‑3560591

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑