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%	65.1 / NA	24	G263E (GGG→GAG)	ydiB	quinate/shikimate 5‑dehydrogenase, NAD(P)‑binding
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base A (11/13);  total (11/13)

ATCATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATG‑GATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATT‑ATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAT  >  NC_000913_3_hsa_tpiA/1774430‑1774709                                                                                                                                                    |                                                                                                                                       atCATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATG‑GATACGGCATGTTGTTGTGGCAAgagg                                                                                                                                      >  1:274338/1‑149 (MQ=255)   cATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATG‑GATACGGCATGTTGTTGTGGCAAGAGGCt                                                                                                                                    >  1:247662/1‑149 (MQ=255)        gTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATG‑GATACGGCATGTTGTTGTGGCAAGAGGCTGGACa                                                                                                                               >  1:390603/1‑149 (MQ=255)            aTGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATG‑GATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTc                                                                                                                           >  1:189826/1‑149 (MQ=255)                     gTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATG‑GATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATT‑ATgg                                                                                                                 <  2:26041/149‑1 (MQ=255)                         ggtACATCCGGGACTTCTGGTCACTGAATGAGTGTATAAACCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATG‑GATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATT‑ATGGACTg                                                                                                             <  2:402212/147‑1 (MQ=255)                                  gggACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATG‑GATACGGCATGTTGTTGTGGCAAGAGGCTGAACGGGTCACATT‑ATGGACTGGCAACGAtt                                                                                                    >  1:32484/1‑149 (MQ=255)                                  gggACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATG‑GATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGtt                                                                                                                            >  2:45973/1‑126 (MQ=255)                                  gggACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATG‑GATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGtt                                                                                                                            <  1:45973/126‑1 (MQ=255)                                  gggACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATG‑GATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATT‑ATGGACTGGCAAAGa                                                                                                      >  2:4717/1‑147 (MQ=255)                                  gggACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATG‑GATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATT‑ATGGACTGGCAAAGa                                                                                                      <  1:4717/147‑1 (MQ=255)                                    gACTTCTGGTCACTGAAAGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATG‑GATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATT‑ATGGACTGGCAAAGATTTc                                                                                                  <  2:71341/149‑1 (MQ=255)                                     aCTTCTGGTCACTGAATGCGGTTATAACCCGCATATAACGAAGTTATTGCAGCAGGCGCAACAAGCAAGTTG‑ACACCCAATTATGATAGACTTCATGTTGATAAGGCAATATGCTGAAAACATCACATA‑ATAGACTACCAAAGATTTcc                                                                                                 <  2:403210/149‑1 (MQ=255)                                                                 ccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATG‑GATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATT‑ATGGACTGGCAAAGATTTCCCTCTGGCATATGTTAAACAGGTCATggg                                                                     >  1:75034/1‑149 (MQ=255)                                                                          aCGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATG‑GATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATT‑ATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGc                                                            <  2:284523/149‑1 (MQ=255)                                                                                   ttGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATG‑GATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATT‑ATGGACTGGCAAAGATTTCCCTCTGGCATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAgcc                                                   >  1:388484/1‑147 (MQ=255)                                                                                       agcagGCGCAACAAGCTGGTTGCAAAACGATTGATG‑GATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATT‑ATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGAc                                               <  1:264488/149‑1 (MQ=255)                                                                                              gcAACAAGCTGGTTGCAAAACGATTGATG‑GATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATT‑ATGGACTGGCAAAGATTTCCCTCTGGAAAATGTTAAACAGGACATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGc                                        >  2:134612/1‑149 (MQ=255)                                                                                                   aaGCTGGTTGCAAAACGATTTATG‑GATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATT‑ATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGaaa                                   <  2:348407/149‑1 (MQ=255)                                                                                                             cAAAACGATTGAGG‑GATACGGCATGTTGTTGTGGCAAGAGGCTG‑CCAACTCACGTTGTTGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTaaaaaa                         <  1:393915/149‑1 (MQ=255)                                                                                                                    aTTGATA‑GATACGGTATGTTGTTGTGGCAAGAGAAAAAAAAGATAAAAAT‑ATGGACTCGCAAAGGTTACACTCTGGAATATGTTAAACAGGTCATGGGCTTCGGTGGCTGACAGGCTGACCGTGAAAAAAAAAAAAAAAAAATGAAAAc                  <  2:221683/149‑1 (MQ=255)                                                                                                                                     tgttgttgtGGCAAGAGGCTGAACAGTTCACATT‑ATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGGGCAGCAAGGGTAAAAAATGAAAACCGTAACTAGAAAAAAt  >  1:1549/1‑149 (MQ=255)                                                                                                                                     gaggtttgtGGCAAGATGATGAAGAGTTTAGATC‑ATGGACTGTCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGGAAAAGAt  <  2:103951/144‑1 (MQ=255)                                                                                                                                            gtgGCAAGAGGCTGAACAGTTCACATT‑ATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTaaaaaa                         <  2:290011/119‑1 (MQ=255)                                                                                                                                            gtgGCAAGAGGCTGAACAGTTCACATT‑ATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTaaaaaa                         >  1:290011/1‑119 (MQ=255)                                                                                                                                                    |                                                                                                                                       ATCATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATG‑GATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATT‑ATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAT  >  NC_000913_3_hsa_tpiA/1774430‑1774709

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑