Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	2,679,525	G→T	A1074D (GCT→GAT)	yphG ←	DUF4380 domain‑containing TPR repeat protein

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	2,679,525	0	G	T	100.0%	104.6 / NA	36	A1074D (GCT→GAT)	yphG	DUF4380 domain‑containing TPR repeat protein
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base T (20/16);  total (20/16)

AGGGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACA  >  NC_000913_3_hsa_tpiA/2679380‑2679657                                                                                                                                                   |                                                                                                                                     aGGGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCg                                                                                                                                   <  1:834278/149‑1 (MQ=255)          attaACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTCGTGACTAATGCCGCTTTCGGCCAATCCGGATTAATCg                                                                                                                          >  2:700012/1‑149 (MQ=255)            taACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGcc                                                                                                                        <  1:489828/149‑1 (MQ=255)                 acGTCTTATTCTAATTATTTTGTGATGAGCGGAAGCGCG‑GGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCaa                                                                                                                   <  1:160673/149‑1 (MQ=255)                 aaggCTTATTGTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGTGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCaa                                                                                                                   <  2:630524/147‑1 (MQ=255)                           taaaTTATGTTTTGATTGGTGGCTGCGAG‑GGCCGTGGAAACATTAAGGTTTATAGGGTTTAGTGAATTAGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGa                                                                                                         <  2:682490/147‑1 (MQ=255)                            tAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAg                                                                                                        >  1:585373/1‑149 (MQ=255)                            tAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAg                                                                                                        >  1:620326/1‑149 (MQ=255)                            tAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAAGGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAg                                                                                                        <  1:822204/149‑1 (MQ=255)                               ttattTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAg                                                                                                     >  1:554931/1‑149 (MQ=255)                                      gtgATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGcc                                                                                                                        <  2:15875/123‑1 (MQ=255)                                      gtgATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGcc                                                                                                                        >  1:15875/1‑123 (MQ=255)                                       atttgaGCGGCA‑CGCGCTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATc                                                                                                                           <  1:601951/116‑1 (MQ=255)                                       atttgaGCGGCA‑CGCGCTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATc                                                                                                                           >  2:601951/4‑119 (MQ=255)                                             gCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCa                                                                                       >  1:391025/1‑149 (MQ=255)                                                        gttccGCCCAAAAATTACAGTTAATAGGGTTGAGTGAACGCAGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGa                                                                             <  2:118548/146‑1 (MQ=255)                                                             gCTCAAATATTACAGTCAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTccc                                                                        <  1:537149/149‑1 (MQ=255)                                                              cTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCcg                                                                       >  1:303804/1‑149 (MQ=255)                                                               taaaaTCTTAAAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCCCAACCTCCCCGAGTcccac                                                                      >  2:299315/3‑147 (MQ=255)                                                               tCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCagc                                                                      >  2:774598/1‑149 (MQ=255)                                                               tCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGATGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCcga                                                                      >  1:605095/1‑148 (MQ=255)                                                                 aaaTATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCgg                                                                    >  2:362778/1‑149 (MQ=255)                                                                  aaTATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTCAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCATCCTCCCCGAGTCCCGCGGa                                                                   <  2:677036/149‑1 (MQ=255)                                                                    tatTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTGCCGCGGACg                                                                 >  1:287997/1‑149 (MQ=255)                                                                      ttACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGcc                                                               >  1:546234/1‑149 (MQ=255)                                                                       tACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCCGCGCGAGCAGACTCAAATATCGCAACCTCCCCGAGTCCCGCAGCCGCCa                                                              >  2:679500/1‑149 (MQ=255)                                                                              aaTAGGGTTTAGTGAACGCGGTGAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGTCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCTCGCGGACGCCAGCATCGc                                                       <  2:540203/149‑1 (MQ=255)                                                                                     tttAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATc                                                <  2:746307/149‑1 (MQ=255)                                                                                                 gattAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCATCATCGCCACCATCAGGCATTTTTCt                                    <  2:863270/147‑1 (MQ=255)                                                                                                      aaaaTAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAtg                               <  2:554931/149‑1 (MQ=255)                                                                                                        aaTAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAAAGCAGCGCGAGCAGACTCATATTGCGCTCCCGACCCCACCCCCGCCGACGCCAGCATCGCCACCATCAGGCCTTTTTCTTTTtgct                             >  2:184145/1‑149 (MQ=255)                                                                                                               ggCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCCTCGCCACCATCAGGCATTTTTCTTTATGCTGCtgttg                      <  1:184145/149‑1 (MQ=255)                                                                                                                  aTCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTCTTCGCCGTCAATTCAGCGCGAGCCGACTCATATCGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTaa                   >  2:824856/1‑149 (MQ=255)                                                                                                                  aTCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAAACTGGATGTGCCCCCCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTCTTTTaa                   >  1:639325/1‑149 (MQ=255)                                                                                                                              aataatGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCGACAATACGGCATTTTTCCTTATGCTGCCGTTGTCAATCGCCATCCAg       >  2:46833/1‑149 (MQ=255)                                                                                                                                   tGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCCCCATACAGCGaca  >  2:670011/1‑149 (MQ=255)                                                                                                                                                   |                                                                                                                                     AGGGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACA  >  NC_000913_3_hsa_tpiA/2679380‑2679657

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: ‑