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%	95.9 / NA	34	G263E (GGG→GAG)	ydiB	quinate/shikimate 5‑dehydrogenase, NAD(P)‑binding
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base A (13/21);  total (13/21)

ATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAA  >  NC_000913_3_hsa_tpiA/1774433‑1774706                                                                                                                                                |                                                                                                                                   aTTGGTTAATGATATCAGTCTGTTACATACGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTGATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTg                                                                                                                               <  2:332518/149‑1 (MQ=255)      gtAATGATATCAGTCTGTTACAGCCGGGACTTCTGGTCACTGAATGCGTGTAGAACCCGCATATGACGAAGGTATTGCAGCAGGCGAAACACGCTGGATGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAg                                                                                                                          <  2:2468/148‑1 (MQ=255)          tGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGACACGGTATGTTGTTGTGGAAGGAGGCTGGACAGTTca                                                                                                                      >  1:441774/1‑149 (MQ=255)                 aGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATg                                                                                                               >  1:55613/1‑149 (MQ=255)                      tttACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTg                                                                                                          <  2:113427/148‑1 (MQ=255)                      gTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTg                                                                                                          >  2:225586/1‑149 (MQ=255)                       ttACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGGTGAACAGTTCACAGTATGGACTgg                                                                                                         >  1:406246/1‑149 (MQ=255)                           aTCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGTTTGCAAAACGATTGATGGATACGGCATGTTGTCGTACCAATAGGCTGAACAGTTCACATTATGGACTGGCaaa                                                                                                     <  2:550408/149‑1 (MQ=255)                               gggACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCACAGAtt                                                                                                 >  1:290972/1‑149 (MQ=255)                                  aCTGCTGGTCACTGGATGCGTGGATAACCCGTATATGACGAAGTTATAGCAGCAGGCGCCACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACAGGGAAAGTTTGcc                                                                                              <  2:6463/149‑1 (MQ=255)                                    ttCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATCCGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCct                                                                                            >  2:253347/1‑149 (MQ=255)                                     gcTGGTCACTGAAGGCGTGTATAACCCGCATATGGCAAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGCACTGGCAAAGATTTCCctc                                                                                           <  2:362580/148‑1 (MQ=255)                                            aCTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAata                                                                                    <  2:315996/149‑1 (MQ=255)                                             cTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAatat                                                                                   >  1:22989/1‑149 (MQ=255)                                                   gCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTaaa                                                                             <  1:255193/149‑1 (MQ=255)                                                   gCGGGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTaaa                                                                             <  2:381199/149‑1 (MQ=255)                                                           aaCCCGCATATGACGAAGTTATTGCAGCAGGCCCAATAAGAGCAGCGCAAAACGATGGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCAt                                                                     <  1:325931/149‑1 (MQ=255)                                                                     tGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTGGTTGTGGCAAGAGGCTGAACAGGTCCCATTATGGACTGGCAAAGATTTCCCTGCGGCTTATGTTAACACGGACATCGGGTTAGGt                                                           >  2:40208/1‑149 (MQ=255)                                                                       aCGAAGTTATGGCAGCTGGCGGCGCAAGCTGGTTTCAAAACGATTGATGGATACGGCATGTTGTTGTGGTAAGAGGCTGAACAGTTCACGTTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGc                                                         <  2:400982/149‑1 (MQ=255)                                                                        cGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGcc                                                        <  1:486065/149‑1 (MQ=255)                                                                         gAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCt                                                       <  1:427119/149‑1 (MQ=255)                                                                            ggtATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGAc                                                    <  1:182664/147‑1 (MQ=255)                                                                                 tGCATCAGGCGCAACAAGCTGGTTGCAAACAGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTCAGGACTGGCAAAGATTTCCCTCGGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCt                                               <  1:360281/149‑1 (MQ=255)                                                                                       agGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACcgc                                         >  1:393106/1‑149 (MQ=255)                                                                                           gcAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGCCTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCCTGGGGATCCGTGCCTGACCGGCTGACCGCGtcg                                     >  2:160547/1‑147 (MQ=255)                                                                                                aaGCTTGTTGCAAAACGATTGCGGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTTGCAAAGATTTCCCTCTCGAATGTGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGaaa                                <  2:536783/149‑1 (MQ=255)                                                                                                  gCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAgg                              >  1:356546/1‑149 (MQ=255)                                                                                                      gTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAACGATTTCCCTCTGGAATATGTTAAACAGGTCATGAGGTTCGGTGCCTGACAGGCTGGCCGCGTGCAGAAAGGGTaa                          >  2:410760/1‑149 (MQ=255)                                                                                                                 aTTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAAc               <  1:225586/149‑1 (MQ=255)                                                                                                                  ttGATGGATAGGGCCTGGTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGATTATGTTAAACAGGTCATGGGGTTCAGTGCCTGACAGGCTGACCGCGTGCAGGAAGGGGAAGAAATTAAAAca              >  2:350705/1‑148 (MQ=255)                                                                                                                      tGGATACGGCAGGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATTTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTaa          <  1:367079/149‑1 (MQ=255)                                                                                                                      tGGAGACGGCATGTCGTTGTGGCAAGAGGCTGAACAGGTCACATTATGGACTTGCAAAGAGTTCCCTCTGGAATACGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTaa          <  2:194771/149‑1 (MQ=255)                                                                                                                        gacaCGCCATGATGTTAAGGCAAGAGGCCAAACAGCTCACCTTATATACTGGCAAATATATCCATCTGAAACACGTTAAACAGGTCATCATGTTCACTGCCAGACAGACTCACCGCGTGAAGAAAGGGTAAAAAATGAAAACCGTAAcc        <  2:323770/146‑2 (MQ=255)                                                                                                                              gCATTTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAATATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTaaaa  <  2:353689/149‑1 (MQ=255)                                                                                                                                                |                                                                                                                                   ATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAA  >  NC_000913_3_hsa_tpiA/1774433‑1774706

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑