Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,919,493 T→A 30.5% Y68F (TAT→TTT)  argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,919,4930TA30.5% 200.5 / 121.5 141Y68F (TAT→TTT) argIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base T (38/60);  new base A (29/14);  total (67/74)
Fisher's exact test for biased strand distribution p-value = 1.94e-03
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.75e-01

Only 100 of 149 total aligned reads displayed.

TAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTT  >  Exported/2919425‑2919560
                                                                    |                                                                   
tAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCaaat                                                                   >  1:1306106/1‑71 (MQ=255)
tAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCaaat                                                                   >  1:5364924/1‑71 (MQ=255)
tAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCatat                                                                   >  1:4699447/1‑71 (MQ=255)
   ttgACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCg                                                                >  1:4575185/3‑71 (MQ=255)
     gACTCTTTATGCCCAATCTGGCTTCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCgg                                                               >  1:4404883/1‑70 (MQ=255)
     gACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGGGAGCACCCTGGTCATATGCGGc                                                              <  1:1807272/71‑1 (MQ=255)
     gACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCgg                                                               >  1:2110440/1‑70 (MQ=255)
     gACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGc                                                              <  1:218339/71‑1 (MQ=255)
      aCTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCa                                                             <  1:3390358/71‑1 (MQ=255)
          tttATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGc                                                              <  1:3622142/66‑1 (MQ=255)
          tttATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACt                                                          >  1:1653631/1‑70 (MQ=255)
           ttATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc                                                        >  1:2903921/1‑71 (MQ=255)
            tATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTc                                                        >  1:3443826/1‑70 (MQ=255)
            tATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCaa                                                            >  1:5332485/1‑66 (MQ=255)
            tATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc                                                        >  1:3174424/1‑70 (MQ=255)
            tATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc                                                        <  1:694644/70‑1 (MQ=255)
              tgcccAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGa                                                      <  1:3845007/67‑1 (MQ=255)
              tGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa                                                      <  1:513397/70‑1 (MQ=255)
              tGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa                                                      <  1:2969478/70‑1 (MQ=255)
               gACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa                                                      <  1:3811750/69‑1 (MQ=255)
               gACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa                                                      <  1:207597/69‑1 (MQ=255)
                aCCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc                                                        <  1:4730925/66‑1 (MQ=255)
                aCCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGACCACCCTGGTCATATGCGGCAACTTCGa                                                      >  1:3750491/1‑68 (MQ=255)
                 ccAATCTGGCTGCCGCTTGGGGCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGaaa                                                    >  1:4659433/1‑69 (MQ=255)
                  cAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCaa                                                            >  1:2786265/1‑60 (MQ=255)
                   aaTCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAagag                                                 >  1:4736921/1‑70 (MQ=255)
                    aTCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCa                                               >  1:397055/1‑71 (MQ=255)
                     tCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGaaa                                                    <  1:5384988/65‑1 (MQ=255)
                      cTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCg                                                                >  1:5238320/1‑52 (MQ=255)
                      cTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGaaa                                                    >  1:495666/1‑64 (MQ=255)
                       tGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCaa                                                            >  1:1343995/1‑55 (MQ=255)
                         gCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATc                                             <  1:2610503/68‑1 (MQ=255)
                         gCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCggg                                          <  1:1695333/71‑1 (MQ=255)
                         gCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCgg                                           <  1:3465091/70‑1 (MQ=255)
                         gCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACggg                                          >  1:726144/1‑71 (MQ=255)
                          cTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAaga                                                  >  1:4036508/1‑62 (MQ=255)
                            gCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTa                                        >  1:3230002/1‑70 (MQ=255)
                            gCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTAc                                       >  1:4940451/1‑71 (MQ=255)
                              cGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTa                                        >  1:751527/1‑68 (MQ=255)
                              cGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcga                                     <  1:1587703/71‑1 (MQ=255)
                                cTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagt                                   >  1:342421/1‑71 (MQ=255)
                                   gggCCGAGTTAAGTAACGCGAGCACCCTGGTCATATGCCGCAACTTCGAAAGAGCATCGGGTAcgagtcg                                 <  1:5222055/70‑1 (MQ=255)
                                   gggCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc                                  <  1:4282139/69‑1 (MQ=255)
                                   gggCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc                                  <  1:685737/69‑1 (MQ=255)
                                    ggCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc                                  <  1:3089739/68‑1 (MQ=255)
                                     gCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa                                                      <  1:1302183/47‑1 (MQ=255)
                                       cGAGATAAGTAACTCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCt                            >  1:1494119/1‑71 (MQ=255)
                                       cGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa                                                      <  1:5400427/45‑1 (MQ=255)
                                       cGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa                                                      <  1:3322810/45‑1 (MQ=255)
                                         aaaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTAc                                       <  1:1392408/56‑1 (MQ=255)
                                          gaTAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtcga                                >  1:887751/1‑64 (MQ=255)
                                          gaTAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCtttt                         <  1:4420153/71‑1 (MQ=255)
                                          aaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCtttt                         >  1:234508/2‑71 (MQ=255)
                                          aaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCtttt                         >  1:3430912/2‑71 (MQ=255)
                                          aaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCtttt                         >  1:2311696/2‑71 (MQ=255)
                                           aTAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCg                                                       <  1:676513/40‑1 (MQ=255)
                                           aTAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCAt                                              >  1:854560/1‑49 (MQ=255)
                                           aTAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCttt                          <  1:2889611/69‑1 (MQ=255)
                                             aggTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCtttt                         >  1:2723965/3‑68 (MQ=255)
                                              ggTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCg                      <  1:3824287/69‑1 (MQ=255)
                                              aGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCg                      <  1:1388748/70‑1 (MQ=255)
                                              aGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCg                      <  1:5149346/70‑1 (MQ=255)
                                              aGTAACGCGAGCACCATGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc                                  <  1:3956849/58‑1 (MQ=255)
                                              aGTAACGCGAGCACCATGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc                                  <  1:274060/58‑1 (MQ=255)
                                               gTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCttt                          <  1:3269978/65‑1 (MQ=255)
                                               gTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCttt                          <  1:1094189/65‑1 (MQ=255)
                                                tAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTa                                        >  1:4805761/1‑50 (MQ=255)
                                                tAACGCGAGCACCGTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTc                       >  1:3337491/1‑67 (MQ=255)
                                                tAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATTGGGTAcgag                                    >  1:3486198/1‑54 (MQ=255)
                                                  aCGCGAGCACCCTGGTCATATGCGTCAACTTCGAAAGAGCATCTGGTAc                                       >  1:2053851/1‑49 (MQ=39)
                                                  aCGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcga                                     >  1:2468374/1‑51 (MQ=255)
                                                  aCGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGa                  >  1:3640181/1‑70 (MQ=255)
                                                      gAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtcg                                 <  1:3494316/51‑1 (MQ=255)
                                                      gAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGaa                    >  1:4629004/1‑64 (MQ=255)
                                                        gCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCg                      >  1:1859077/1‑60 (MQ=255)
                                                          aCCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGcgcg          <  1:4041117/70‑1 (MQ=255)
                                                           cccTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCttt                          <  1:1781473/53‑1 (MQ=255)
                                                            ccTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGaa                    <  1:5685576/58‑1 (MQ=255)
                                                            ccTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGaa                    <  1:4948340/58‑1 (MQ=255)
                                                            ccTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGAt                 <  1:1561716/61‑1 (MQ=255)
                                                            ccTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGAt                 <  1:5257024/61‑1 (MQ=255)
                                                             cTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGcgcg          <  1:3029357/67‑1 (MQ=255)
                                                             cTGGTCAAATGCGGCAACTTCGAAAGAGCAACggg                                          <  1:5377177/35‑1 (MQ=38)
                                                             cTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGaa                    <  1:3803633/57‑1 (MQ=255)
                                                             cTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGaa                    <  1:338205/57‑1 (MQ=255)
                                                              tGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGa                     >  1:1637630/1‑55 (MQ=255)
                                                              tGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGa                  >  1:1754536/1‑58 (MQ=255)
                                                              tGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGtt     >  1:2225803/1‑71 (MQ=255)
                                                              tGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGtt     >  1:3423371/1‑71 (MQ=255)
                                                               ggTCAAATGCGGGAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGttt    >  1:1950550/1‑71 (MQ=255)
                                                                gTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAg                   >  1:5052402/1‑55 (MQ=255)
                                                                gTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTCTCGAAGATGAGCGCGATGtttt   <  1:3104648/71‑1 (MQ=255)
                                                                gTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGttt    <  1:4724757/70‑1 (MQ=255)
                                                                 tCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc                                  <  1:2787273/39‑1 (MQ=255)
                                                                 tCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGaa                    <  1:4494721/53‑1 (MQ=255)
                                                                 tCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGaa                    <  1:1357511/53‑1 (MQ=255)
                                                                 tCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGttttt  <  1:298933/71‑1 (MQ=255)
                                                                   atatGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGa                  >  1:2046400/1‑53 (MQ=255)
                                                                    tatGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCttt                          <  1:1433691/44‑1 (MQ=255)
                                                                    tatGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCtt                           <  1:3723218/43‑1 (MQ=255)
                                                                    |                                                                   
TAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTT  >  Exported/2919425‑2919560

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: