Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	1,774,576	G→A	G263E (GGG→GAG)	ydiB →	quinate/shikimate 5‑dehydrogenase, NAD(P)‑binding

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	1,774,576	0	G	A	100.0%	178.5 / NA	55	G263E (GGG→GAG)	ydiB	quinate/shikimate 5‑dehydrogenase, NAD(P)‑binding
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base A (29/26);  total (29/26)

GTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTG‑TATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTGGT  >  NC_000913_3_hsa_tpiA/1774437‑1774721                                                                                                                                             |                                                                                                                                                  gTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTG‑TATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACa                                                                                                                                          <  1:208618/149‑1 (MQ=255)    aaTGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTG‑TATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGtt                                                                                                                                       >  1:164059/1‑149 (MQ=255)      tGATATCAGTCTGTTACATCCGGGACTTCTGGTCCCTGACTGCGTGTTTTCATCCTCACA‑GACTAAAGTATTGCAGCAGGCGCAACAAGCTGGGTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTca                                                                                                                                     <  2:688431/149‑1 (MQ=255)            cAGTCCGTTCCAGTCGGGACTGCTGTTCACTGAATGCGTG‑TATACCCTTCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGCTTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTAt                                                                                                                               <  2:418137/149‑1 (MQ=255)            cAGCCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTG‑TATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTAt                                                                                                                               <  1:509972/149‑1 (MQ=255)             aGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTG‑TATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATg                                                                                                                              <  1:652250/149‑1 (MQ=255)             aGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTG‑TATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATg                                                                                                                              >  1:178659/1‑149 (MQ=255)                         ccGGGACTTCTGGTCACTGAATGCGTG‑TATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGa                                                                                                                  >  1:482060/1‑149 (MQ=255)                          cGGGACTTCTGGTCACTGAATGCGTG‑TATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGAt                                                                                                                 >  1:237903/1‑149 (MQ=255)                                ttCTGGTCACTGAATGCGTG‑TATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTca                                                                                                                                     <  1:14990/123‑1 (MQ=255)                                ttCTGGTCACTGAATGCGTG‑TATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTca                                                                                                                                     >  2:14990/1‑123 (MQ=255)                                 tCTGGTCACTGAATGCGTG‑TATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCctc                                                                                                          <  2:178659/149‑1 (MQ=255)                                  cgtgtaaCTGAATGCGTG‑TATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCctct                                                                                                         <  2:845969/143‑1 (MQ=255)                                  cTGGTCACTGAATGCGTG‑TATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCctct                                                                                                         <  2:164059/149‑1 (MQ=255)                                    ggTGACTGAATGCGTG‑TATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTgg                                                                                                       <  2:705588/149‑1 (MQ=255)                                      tCACTGAATGCGTG‑TATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGaa                                                                                                     >  2:303491/1‑149 (MQ=255)                                         cTGAATGCGTG‑TATAACCCGCATATGACGAAGTTATTGCCGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTTTGGCAAGAGGTTGTACAGTTCACATTATGGACTGGCAAAGATTTCCCTATTGAatat                                                                                                  >  2:524316/1‑149 (MQ=255)                                          tGAATGCGTG‑TATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATg                                                                                                                              >  2:160413/1‑120 (MQ=255)                                          tGAATGCGTG‑TATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCCGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATg                                                                                                                              <  1:160413/120‑1 (MQ=255)                                                cGTG‑TATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAAc                                                                                           <  1:292685/149‑1 (MQ=255)                                                 gtg‑tATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGCACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACa                                                                                          >  1:752728/1‑149 (MQ=255)                                                  tg‑tATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAg                                                                                         >  2:135499/1‑149 (MQ=255)                                                   g‑tATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGCCTGGCAAAGATTTCCCTCTGGAATATGTTAAACAgg                                                                                        >  1:335638/1‑149 (MQ=255)                                                   g‑tATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAgg                                                                                        >  1:431029/1‑149 (MQ=255)                                                          cccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATgg                                                                                  >  1:532466/1‑149 (MQ=255)                                                           ccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATggg                                                                                 >  2:183454/1‑149 (MQ=255)                                                                  tGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGt                                                                          <  2:237903/149‑1 (MQ=255)                                                                   gACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGCTAACATTCTGGACTGGCAAAGCTTTCCCTCTGGAACATGTTAACCAGGACATGGGGTTCGGTg                                                                         >  1:682007/1‑149 (MQ=255)                                                                    aCGGAGTCATTGCAGCAGTCGCATCAACCGTGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTTTGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCTGTGc                                                                        <  1:336321/149‑1 (MQ=255)                                                                      gAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGTGTTCGGTGCCt                                                                      <  1:608789/149‑1 (MQ=255)                                                                      gAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGAGTTCCCTCTGGAATATGTTAAACAGGTAGTGGGGGTCCGTGCCt                                                                      >  2:849114/1‑149 (MQ=255)                                                                          ttATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTcaca                                                                                                                                   >  2:419108/1‑84 (MQ=255)                                                                          ttATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTcaca                                                                                                                                   <  1:419108/84‑1 (MQ=255)                                                                                cagcagGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGa                                                            >  1:581530/1‑149 (MQ=255)                                                                                      gcgcAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGt                                                      >  1:268727/1‑149 (MQ=255)                                                                                      gcgcAACAAGCTGGTTGCAAAACGATTGATGGATAAGGCATGTCGTTTTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGt                                                      <  1:511368/149‑1 (MQ=255)                                                                                        gcAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGCCCGCGTGc                                                    >  1:645148/1‑149 (MQ=255)                                                                                             aaGGTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGaaa                                               <  2:955125/149‑1 (MQ=255)                                                                                             aaGCTGGGTGGAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGaaa                                               <  2:547068/149‑1 (MQ=255)                                                                                              aGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGCCAGGCTGACCGCGTGAAGAAAg                                              >  2:612734/1‑149 (MQ=255)                                                                                                        aaaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGAttt                                                                                                               >  1:563543/1‑74 (MQ=255)                                                                                                        aaaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGAttt                                                                                                               <  2:563543/74‑1 (MQ=255)                                                                                                        aaaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAAt                                    <  2:236581/149‑1 (MQ=255)                                                                                                        aaaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGAAGAAAGGGTAAAAAAt                                    >  1:752894/1‑149 (MQ=255)                                                                                                             gATTGATGGATACGGCATGTTGTTGTGGCGAGAGGCTGAACAGTTCACGTTATGGACTGGCCAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGCGCAGAAAGGGTAAAAAATGaaaa                               >  1:812702/1‑149 (MQ=255)                                                                                                             gATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGaaaa                               >  1:137241/1‑149 (MQ=255)                                                                                                                  aTGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTa                          >  1:361142/1‑149 (MQ=255)                                                                                                                       tACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGAt                                                                                                                 >  1:734380/1‑57 (MQ=255)                                                                                                                       tACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGAt                                                                                                                 <  2:734380/57‑1 (MQ=255)                                                                                                                        aCGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTa                    <  1:389202/149‑1 (MQ=255)                                                                                                                           gCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTaaaa                 <  1:756920/149‑1 (MQ=255)                                                                                                                           gCAGGTTGTTGGGGCAAGAGGCTGAACAGTTCACATTATTGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCCGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTaaaa                 <  1:40871/149‑1 (MQ=255)                                                                                                                               gttgttgtGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAAATGTAAAAGAtc             >  1:607794/1‑149 (MQ=255)                                                                                                                                  gctgtgGCAAGAGGGTGAACAGTTCATATTATGGACTGGCAAAGATTCCCCTCTGGAATATGTTAAACAGGTCAGGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCg          <  2:752894/147‑1 (MQ=255)                                                                                                                                          aaGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTAATTgct  >  2:284017/1‑147 (MQ=255)                                                                                                                                             |                                                                                                                                                  GTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTG‑TATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTGGT  >  NC_000913_3_hsa_tpiA/1774437‑1774721

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: ‑