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%	96.6 / NA	31	G263E (GGG→GAG)	ydiB	quinate/shikimate 5‑dehydrogenase, NAD(P)‑binding
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base A (15/16);  total (15/16)

GATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTGGT  >  NC_000913_3_hsa_tpiA/1774443‑1774721                                                                                                                                      |                                                                                                                                                  gATACCAGTCATTTCCATCCGGGATTTCTGGTCACTGAAGGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTcac                                                                                                                                    <  2:607619/149‑1 (MQ=255)     tgcatcggTTACATCCGGTACTTCTGGGCACTGAATGCGTGTATAGCCCGCAGATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTa                                                                                                                                <  2:536451/142‑1 (MQ=255)                                      aaTGCGTGTATAACCCGCATATGACGAACTTATTGCAGCAGGAGCAACAAGCTGGTTGCAACACGATTGATAGATACGGCATGCTGGTGTCGCAAGAGACTGCACAGTTCACATTATGGGCTTGCACAGATTTCGCGCTGGCatattct                                                                                               >  2:523820/1‑146 (MQ=255)                                       aTGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACTAGAGTTTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTa                                                                                              <  1:19821/149‑1 (MQ=255)                                         gCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCCAAAAGCTGGTTGAAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTaaa                                                                                            >  1:496332/1‑149 (MQ=255)                                           gtgtATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCTCTCTGGGATATGTTAAACa                                                                                          >  1:46420/1‑149 (MQ=255)                                              tataACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGt                                                                                       >  1:373846/1‑149 (MQ=255)                                                  aCCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTCAACAGGTCATg                                                                                   <  1:413227/149‑1 (MQ=255)                                                   cccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTAAAAAACTATTGATGGATACGGCATGTTGTTGTGGGAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATgg                                                                                  >  2:112354/1‑149 (MQ=255)                                                        atatGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTc                                                                             >  2:206402/1‑149 (MQ=255)                                                           ggACGAAGTTATGGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGCGGCAAGAGGCTGCACAGTTCACATTATGGCCTGGCAGAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGt                                                                          <  2:42810/148‑1 (MQ=255)                                                            gACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTg                                                                         <  1:516339/149‑1 (MQ=255)                                                             aCGAAGTTTTTGCAGCAGGCACAGCAAGCTTGTTGGAAAACGATTTATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTCCAATGGGGATGGGGTTCGGTGc                                                                        <  2:583095/149‑1 (MQ=255)                                                               gAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGACATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCt                                                                      <  1:165888/149‑1 (MQ=255)                                                                  gTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGAc                                                                   <  1:424774/149‑1 (MQ=255)                                                                  gTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTAACATTATGGCCTGGAAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGAGATTGGGTGCCTGAc                                                                   >  2:73784/1‑149 (MQ=255)                                                                                     caaGCTGGTTGCAAACCGATTGATGGCACCGGCTTCCGCTGTTGGCAAGAGGCGGAACAATTCACTTTATGGGCTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGGGTGCAGaa                                                >  1:162237/1‑149 (MQ=255)                                                                                           ggTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCt                                                                      <  1:549019/121‑1 (MQ=255)                                                                                           ggTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCt                                                                      >  2:549019/1‑121 (MQ=255)                                                                                            gTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTaa                                         >  1:13163/1‑149 (MQ=255)                                                                                                  aaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGAttt                                                                                                               >  1:604296/1‑73 (MQ=255)                                                                                                  aaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGAttt                                                                                                               <  2:604296/73‑1 (MQ=255)                                                                                                       aTTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCGAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAgg                                                                >  2:465597/1‑115 (MQ=255)                                                                                                       aTTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCGAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAgg                                                                <  1:465597/115‑1 (MQ=255)                                                                                                           aTGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTa                          >  2:288948/1‑149 (MQ=255)                                                                                                            tGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGt                                                      >  1:646238/1‑120 (MQ=255)                                                                                                            tGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGt                                                      <  2:646238/120‑1 (MQ=255)                                                                                                                   ggCATGTCGTTGTTGCAAGAGGATGAACAGTTCACATTATGGCCTGGCAAAGATTTCCCTCTGGCATATGTTAAACAGGTCATGGGGTTCGGTGCTTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTaaa                  <  1:477151/149‑1 (MQ=255)                                                                                                                            ttgtGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTACCCTCTGGAATAGGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGCCCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGt         <  1:34408/149‑1 (MQ=255)                                                                                                                                 gCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGAAAGGCTGCCCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTg    <  1:192005/149‑1 (MQ=255)                                                                                                                                   aaGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTGGt  >  2:262481/1‑149 (MQ=255)                                                                                                                                      |                                                                                                                                                  GATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTGGT  >  NC_000913_3_hsa_tpiA/1774443‑1774721

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: ‑