Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 389,919:1 +T 100% intergenic (‑192/‑332) hemB ← / → yaiT 5‑aminolevulinate dehydratase (porphobilinogen synthase)/pseudogene, autotransporter family;putative structure; Not classified; interrupted by IS3; putative flagellin structural protein

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA389,9191.T97.6% 135.9 / ‑3.8 42intergenic (‑192/‑332)hemB/yaiT5‑aminolevulinate dehydratase (porphobilinogen synthase)/pseudogene, autotransporter family;putative structure; Not classified; interrupted by IS3; putative flagellin structural protein
Reads supporting (aligned to +/- strand):  ref base . (0/1);  new base T (19/22);  total (19/23)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00
Rejected as polymorphism: E-value score below prediction cutoff.
Rejected as polymorphism: Frequency below/above cutoff threshold.
Rejected as polymorphism: Variant not supported by required number of reads on each strand.
Rejected as polymorphism: Polymorphic indel expands or contracts a homopolymer stretch.

GGGTAGGGATGTTTTACGAAAGTTGTCGCGATGTTGACAAGAAGAGAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTA‑TTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCATAGGATATTTATCTGGTTTGTGTTTGTGATATTTATTATGCGTATGCTTCAAAAACAAAATTATCTGCAACATGTTGAAATA  >  NC_000913_3_hsa_tpiA/389776‑390061
                                                                                                                                                 |                                                                                                                                              
gggTAGGGATGTTTTACGAAAGTTGTCGCGATGTTGACAAGAAGAGAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATGTATAGCTGTTGA‑TTATTA‑ttttt                                                                                                                                           >  1:817073/1‑149 (MQ=255)
 ggTAGGGATGTTTTACGATAGTTGTCGCGATGTTGACAACAAGAGAACGGAAGGGAGGCCAGGACATCTTTTTAATAGATACAGCAATAATTTTATATTCACTGATAATATTTTTAATCTTTAATTATAGCTGTTGG‑TTATTA‑tttttt                                                                                                                                          <  1:637310/149‑1 (MQ=255)
  gTAGGGATGTTTTACGAAAGTTGTCGCGATGTTGACAAGAAGAGAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTCTTA‑ttttttt                                                                                                                                         >  2:516061/1‑148 (MQ=255)
     gggATGTTTTACGAAAGTTGTCGCGATGTTGACAAGAAGAGAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTA‑tttttttgga                                                                                                                                      <  2:287372/149‑5 (MQ=255)
        aTGTTTTACGAAAGTTGTCGCGATGTTGACAAGAAGAGAATGGAAGAGAGGCCAGCACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGtt                                                                                                                                    <  1:698524/149‑1 (MQ=255)
          gTTTTACGAAAGTTGTCGCGATGTTGACAAGAAGAGAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTg                                                                                                                                  <  1:649139/149‑1 (MQ=255)
           ttttACGAAAGTTGTCGCGATGTTGAGAAGAAGAGAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATACTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTgg                                                                                                                                 <  1:72753/149‑1 (MQ=255)
                 gAAAGTTGTCGCGATGTTGAAAAGAAGAGAATGGAAGAGCGGCGCGGACATCTTTTTAATAGAAACAGCACTAATTTTATATTCACTGACAATATTTTTAATCTTTGTTTATTGCTGTTGG‑TTCTTATTTTTTTGGATTTTGGTTgcac                                                                                                                           >  2:310807/1‑147 (MQ=255)
                    aGTTGTCGCGATGTTGACAAGAAGAAAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCgctgc                                                                                                                        <  1:37148/149‑1 (MQ=255)
                         tCGCGATGTTGACAAGAAGAGAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATaa                                                                                                                   >  2:552599/1‑149 (MQ=255)
                           gcgATGTTGACAAGAAGAGAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAAt                                                                                                                 >  2:474776/1‑149 (MQ=255)
                            cgATGTTGACAAGAAGAGAATGGAAGAGAGGCCAGGACATATTTCCAGTAGAAATAGCAATGATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGTACTACTATAAAtt                                                                                                                >  1:619013/1‑149 (MQ=255)
                                   caCAAGAGGATAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTTGTTGCGCTGCTATAAATTGaataat                                                                                                         >  2:425567/2‑149 (MQ=255)
                                     cAAGAAGAGAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTa                                                                                                       <  1:168580/149‑1 (MQ=255)
                                       agaagaGAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTaaa                                                                                                     <  2:289096/149‑1 (MQ=255)
                                        gaagaGAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTaaaa                                                                                                    <  1:59975/149‑1 (MQ=255)
                                                 ggAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGc                                                                                           >  2:423399/1‑149 (MQ=255)
                                                     gagagGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCatat                                                                                       >  1:3574/1‑149 (MQ=255)
                                                         ggCCATGATATCTTTTTCATCGATACAGGGATAATTTTCTGTTTAATGAATATATTTTTAATCTTTATTTAAAGGTGATGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCAt                                                                                   <  2:567870/149‑1 (MQ=255)
                                                          gCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATTAATTGAATAATTAAACCTTTGTttcatattcata                                                                                  >  1:566612/1‑149 (MQ=255)
                                                           ccAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCATAg                                                                                 <  2:759736/149‑1 (MQ=255)
                                                             cggACATCATCTTACTAGACACAGGAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCATAGGa                                                                               >  2:604630/2‑149 (MQ=255)
                                                              ggACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCATAGGat                                                                              <  1:161926/149‑1 (MQ=255)
                                                                aCATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGTTTGTGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCATAGGatat                                                                            >  1:261593/1‑149 (MQ=255)
                                                                aCATCCTTTTAATAGAAAAAACAATAATCTTATATACACTTAAAATATTGTTAATCTTTATTTAGAGCTGTTGG‑TTATTATTTTTTTGGAGCTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCATAGGatat                                                                            <  1:265282/149‑1 (MQ=255)
                                                                  aTCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCATAGGATAttt                                                                          >  1:135674/1‑149 (MQ=255)
                                                                     tttttAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCATAGTATATTTGTc                                                                       >  1:342598/1‑149 (MQ=255)
                                                                     tttttAATAGAAACAGCAATAATTATATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTCG‑TTAGTATTTTTTTGTTGTTTCGTTGCGCTGCTATAAATTGAATAATTAAAACTTTCTTGACTATTCATAGACTCTTTAtt                                                                       >  2:493404/1‑148 (MQ=255)
                                                                     ttattAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATGTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCTTATTCATAGGTTATTTATc                                                                       >  2:782938/4‑149 (MQ=255)
                                                                       tttAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCATAGGATATTTATCTg                                                                     <  1:793847/149‑1 (MQ=255)
                                                                       tttAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCATAGGATATTTATCTg                                                                     >  1:428270/1‑149 (MQ=255)
                                                                        ttAATGGAAACAGAAATAATTTTATATTCAATGTATATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGTATAATTGAAACACTGTTTTTTATTCATAGGATATTTATCTgg                                                                    <  2:180021/149‑1 (MQ=255)
                                                                              gAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGATGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCATAGGATATTTATCGGgtttgtg                                                              >  1:503703/1‑149 (MQ=255)
                                                                                 aCAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCATAGGATATTTATCTGgtttgtgttt                                                           >  1:442780/1‑149 (MQ=255)
                                                                                   aGCAAAAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCATAGGATATTTATCTGgtttgtgtttgt                                                         <  1:809286/149‑1 (MQ=255)
                                                                                          atTTTAAATTCACTTAAAAGATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCATAGGATATTTATCTGGTTTGTGTTTGTGAtattt                                                  <  2:22177/149‑1 (MQ=255)
                                                                                           ttttATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCATAGGATATTTATCTGGTTTGTGTTTGTGAtattta                                                 <  1:55643/149‑1 (MQ=255)
                                                                                               aatgctaCTGAAATTATTTGTAAACTGTATTTACAGCTGTTGA‑TTATTATTTTTTTGGAGTTTGTTTGCTCTTCTATAAATTTAATAATTAAAACTTTGTTGCATATTCATACGATATTTATCTGGTTTGTGTTTGTGATATTtattat                                             <  2:551784/143‑1 (MQ=255)
                                                                                                  ttCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCATAGGATATTTATCTGGTTTGTGTTTGTGATATTTATTATGCg                                          <  1:184682/149‑1 (MQ=255)
                                                                                                    cACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCATAGGATATTTATCTGGTTTGTGTTTGTGATATTTATTATGCGTa                                        <  1:356252/149‑1 (MQ=255)
                                                                                                     aCTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCATAGGGTATTTATTTGGTTTGTGTTTGTGATATTTATTATGCGttt                                       >  1:418955/1‑147 (MQ=255)
                                                                                                       tGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCATAGGATATTTATCTGGTTTGTGTTTGTGATATTTATTATGCGTATGc                                     <  1:558977/149‑1 (MQ=255)
                                                                                                       tGAAAATATTTTTAATCTTTATTGATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGTTTGCGCTGCTATAAATTGAATAATTAAAACTTTTTTGCTTATTCATCGGATATTTATCTGATTTGTGTTTGAGATATTTATTATGATTATGc                                     >  2:83937/1‑149 (MQ=255)
                                                                                                                   tAATCTTTATTTATAGCTGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCATAGGATATTTATCTGGTTTGTGTTTGTGATATTTATTATGCGTATGCTTCAAAAACaaa                         <  1:703529/149‑1 (MQ=255)
                                                                                                                           atttctAGCTTATGGTTTATAT‑TTTTTTGGGTTTTGTTTGCGTTGCTATAAATTTAATAATTTAAACTTTGTTGGATATTCATACGTAATTTATCTGGTTTCTGTTTGTGCTTTTTATTATTCGTATGCTTCAAAAACAAAATTATCTg                 <  2:292713/149‑1 (MQ=255)
                                                                                                                                    tGTTGG‑TTATTATTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCATAGGATATTTATCTGGTTTGTGTTTGTGATATTTATTATGCGTATGCTTCAAAAACAAAATTATCTGCAACATGtt        <  2:477198/149‑1 (MQ=255)
                                                                                                                                           ttattatTTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCATAGGATATTTATCTGGTTTGTGTTTGTGATATTTATTATGCGTATGCTTCAAAAACAAAATTATCTGCAACATGTTGAAATa  <  1:412812/149‑1 (MQ=255)
                                                                                                                                                 |                                                                                                                                              
GGGTAGGGATGTTTTACGAAAGTTGTCGCGATGTTGACAAGAAGAGAATGGAAGAGAGGCCAGGACATCTTTTTAATAGAAACAGCAATAATTTTATATTCACTGAAAATATTTTTAATCTTTATTTATAGCTGTTGG‑TTATTA‑TTTTTTGGAGTTTGGTTGCGCTGCTATAAATTGAATAATTAAAACTTTGTTGCATATTCATAGGATATTTATCTGGTTTGTGTTTGTGATATTTATTATGCGTATGCTTCAAAAACAAAATTATCTGCAACATGTTGAAATA  >  NC_000913_3_hsa_tpiA/389776‑390061

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: ‑