Mutation | AA change | Consequence type | BoostDM score | IntOGen frequency |
---|---|---|---|---|
17:7670685:A | R342* | stop_gained | 1.00 | 5 |
17:7673803:A | R273C | missense_variant | 1.00 | 4 |
17:7675088:T | R175H | missense_variant | 1.00 | 4 |
17:7673802:T | R273H | missense_variant | 1.00 | 2 |
17:7673776:A | R282W | missense_variant | 0.99 | 2 |
17:7673806:T | V272M | missense_variant | 1.00 | 1 |
17:7673806:A | V272L | missense_variant | 1.00 | 1 |
17:7673821:A | R267W | missense_variant | 1.00 | 1 |
17:7674197:G | T256P | missense_variant | 1.00 | 1 |
17:7673824:T | G266R | missense_variant | 1.00 | 1 |
17:7673797:G | C275R | missense_variant | 1.00 | 1 |
17:7674202:C | I254S | missense_variant | 1.00 | 1 |
17:7674230:T | G245S | missense_variant | 0.99 | 1 |
17:7675139:G | R158P | missense_variant | 0.99 | 1 |
17:7674227:C | M246V | missense_variant | 0.99 | 1 |
17:7675143:A | V157F | missense_variant | 0.98 | 1 |
17:7674945:A | R196* | stop_gained | 0.95 | 1 |
17:7674872:C | Y220C | missense_variant | 0.93 | 1 |
17:7675064:C | S183* | stop_gained | 0.91 | 1 |
17:7674917:G | Y205S | missense_variant | 0.87 | 1 |
17:7673803:C | R273G | missense_variant | 1.00 | 0 |
17:7673803:T | R273S | missense_variant | 1.00 | 0 |
17:7673806:G | V272L | missense_variant | 1.00 | 0 |
17:7673821:C | R267G | missense_variant | 1.00 | 0 |
17:7674197:A | T256S | missense_variant | 1.00 | 0 |
17:7674197:C | T256A | missense_variant | 1.00 | 0 |
17:7673824:A | G266* | stop_gained | 1.00 | 0 |
17:7673823:G | G266A | missense_variant | 1.00 | 0 |
17:7673823:T | G266E | missense_variant | 1.00 | 0 |
17:7673820:T | R267Q | missense_variant | 1.00 | 0 |
17:7673802:G | R273P | missense_variant | 1.00 | 0 |
17:7673823:A | G266V | missense_variant | 1.00 | 0 |
17:7673824:G | G266R | missense_variant | 1.00 | 0 |
17:7673820:A | R267L | missense_variant | 1.00 | 0 |
17:7673820:G | R267P | missense_variant | 1.00 | 0 |
17:7673802:A | R273L | missense_variant | 1.00 | 0 |
17:7673797:T | C275S | missense_variant | 1.00 | 0 |
17:7673797:C | C275G | missense_variant | 1.00 | 0 |
17:7674203:C | I254V | missense_variant | 1.00 | 0 |
17:7674203:G | I254L | missense_variant | 1.00 | 0 |
17:7674203:A | I254F | missense_variant | 1.00 | 0 |
17:7674196:T | T256K | missense_variant | 1.00 | 0 |
17:7674202:T | I254N | missense_variant | 1.00 | 0 |
17:7674196:A | T256I | missense_variant | 1.00 | 0 |
17:7674202:G | I254T | missense_variant | 1.00 | 0 |
17:7674196:C | T256R | missense_variant | 1.00 | 0 |
17:7675088:A | R175L | missense_variant | 1.00 | 0 |
17:7675088:G | R175P | missense_variant | 1.00 | 0 |
17:7673805:G | V272A | missense_variant | 1.00 | 0 |
17:7673805:T | V272E | missense_variant | 1.00 | 0 |
17:7673805:C | V272G | missense_variant | 1.00 | 0 |
17:7673775:G | R282P | missense_variant | 1.00 | 0 |
17:7673775:T | R282Q | missense_variant | 1.00 | 0 |
17:7673775:A | R282L | missense_variant | 1.00 | 0 |
17:7674201:C | I254M | missense_variant | 0.99 | 0 |
17:7673795:T | C275* | stop_gained | 0.99 | 0 |
17:7673776:C | R282G | missense_variant | 0.99 | 0 |
17:7674230:G | G245R | missense_variant | 0.99 | 0 |
17:7674230:A | G245C | missense_variant | 0.99 | 0 |
17:7675089:C | R175G | missense_variant | 0.99 | 0 |
17:7675089:T | R175S | missense_variant | 0.99 | 0 |
17:7675089:A | R175C | missense_variant | 0.99 | 0 |
17:7673746:A | K292* | stop_gained | 0.99 | 0 |
17:7674225:A | M246I | missense_variant | 0.99 | 0 |
17:7674225:G | M246I | missense_variant | 0.99 | 0 |
17:7675139:T | R158H | missense_variant | 0.99 | 0 |
17:7674229:A | G245V | missense_variant | 0.99 | 0 |
17:7675139:A | R158L | missense_variant | 0.99 | 0 |
17:7674229:T | G245D | missense_variant | 0.99 | 0 |
17:7674225:T | M246I | missense_variant | 0.99 | 0 |
17:7674229:G | G245A | missense_variant | 0.99 | 0 |
17:7673796:G | C275S | missense_variant | 0.99 | 0 |
17:7673796:T | C275Y | missense_variant | 0.99 | 0 |
17:7673796:A | C275F | missense_variant | 0.99 | 0 |
17:7675140:T | R158S | missense_variant | 0.99 | 0 |
17:7675140:A | R158C | missense_variant | 0.99 | 0 |
17:7675140:C | R158G | missense_variant | 0.99 | 0 |
17:7674227:G | M246L | missense_variant | 0.99 | 0 |
17:7674227:A | M246L | missense_variant | 0.99 | 0 |
17:7674226:T | M246K | missense_variant | 0.99 | 0 |
17:7675142:C | V157G | missense_variant | 0.99 | 0 |
17:7675142:G | V157A | missense_variant | 0.99 | 0 |
17:7675142:T | V157D | missense_variant | 0.99 | 0 |
17:7674226:G | M246T | missense_variant | 0.99 | 0 |
17:7674226:C | M246R | missense_variant | 0.99 | 0 |
17:7673795:C | C275W | missense_variant | 0.99 | 0 |
17:7673749:A | K291* | stop_gained | 0.99 | 0 |
17:7674914:T | L206* | stop_gained | 0.98 | 0 |
17:7670685:C | R342G | missense_variant | 0.98 | 0 |
17:7674861:A | E224* | stop_gained | 0.98 | 0 |
17:7675143:T | V157I | missense_variant | 0.98 | 0 |
17:7675143:G | V157L | missense_variant | 0.98 | 0 |
17:7673748:C | K291R | missense_variant | 0.97 | 0 |
17:7673748:A | K291M | missense_variant | 0.97 | 0 |
17:7673748:G | K291T | missense_variant | 0.97 | 0 |
17:7674906:A | R209* | stop_gained | 0.97 | 0 |
17:7673746:G | K292Q | missense_variant | 0.97 | 0 |
17:7673746:C | K292E | missense_variant | 0.97 | 0 |
17:7673749:G | K291Q | missense_variant | 0.96 | 0 |
17:7673749:C | K291E | missense_variant | 0.96 | 0 |
17:7673752:A | R290C | missense_variant | 0.95 | 0 |
17:7673752:C | R290G | missense_variant | 0.95 | 0 |
17:7673752:T | R290S | missense_variant | 0.95 | 0 |
17:7674911:C | D207G | missense_variant | 0.95 | 0 |
17:7674911:G | D207A | missense_variant | 0.95 | 0 |
17:7674911:A | D207V | missense_variant | 0.95 | 0 |
17:7673745:G | K292T | missense_variant | 0.95 | 0 |
17:7673745:C | K292R | missense_variant | 0.95 | 0 |
17:7673745:A | K292I | missense_variant | 0.95 | 0 |
17:7673809:A | E271* | stop_gained | 0.95 | 0 |
17:7674916:T | Y205* | stop_gained | 0.94 | 0 |
17:7674916:C | Y205* | stop_gained | 0.94 | 0 |
17:7674871:T | Y220* | stop_gained | 0.94 | 0 |
17:7674871:C | Y220* | stop_gained | 0.94 | 0 |
17:7673815:G | S269R | missense_variant | 0.94 | 0 |
17:7673815:A | S269C | missense_variant | 0.94 | 0 |
17:7673815:C | S269G | missense_variant | 0.94 | 0 |
17:7674894:A | R213* | stop_gained | 0.94 | 0 |
17:7673754:C | L289R | missense_variant | 0.94 | 0 |
17:7673754:G | L289P | missense_variant | 0.94 | 0 |
17:7673754:T | L289H | missense_variant | 0.94 | 0 |
17:7674872:G | Y220S | missense_variant | 0.93 | 0 |
17:7674872:A | Y220F | missense_variant | 0.93 | 0 |
17:7674876:A | P219S | missense_variant | 0.93 | 0 |
17:7674875:A | P219L | missense_variant | 0.93 | 0 |
17:7674875:C | P219R | missense_variant | 0.93 | 0 |
17:7674876:T | P219T | missense_variant | 0.93 | 0 |
17:7674875:T | P219H | missense_variant | 0.93 | 0 |
17:7674876:C | P219A | missense_variant | 0.93 | 0 |
17:7674887:T | S215N | missense_variant | 0.93 | 0 |
17:7674888:A | S215C | missense_variant | 0.93 | 0 |
17:7674888:G | S215R | missense_variant | 0.93 | 0 |
17:7674888:C | S215G | missense_variant | 0.93 | 0 |
17:7674887:A | S215I | missense_variant | 0.93 | 0 |
17:7674887:G | S215T | missense_variant | 0.93 | 0 |
17:7673814:A | S269I | missense_variant | 0.93 | 0 |
17:7673814:G | S269T | missense_variant | 0.93 | 0 |
17:7673814:T | S269N | missense_variant | 0.93 | 0 |
17:7673782:A | R280* | stop_gained | 0.92 | 0 |
17:7674912:A | D207Y | missense_variant | 0.92 | 0 |
17:7674912:G | D207H | missense_variant | 0.92 | 0 |
17:7674912:T | D207N | missense_variant | 0.92 | 0 |
17:7674914:C | L206W | missense_variant | 0.92 | 0 |
17:7674914:G | L206S | missense_variant | 0.92 | 0 |
17:7670684:T | R342Q | missense_variant | 0.92 | 0 |
17:7670684:A | R342L | missense_variant | 0.92 | 0 |
17:7670684:G | R342P | missense_variant | 0.92 | 0 |
17:7674861:G | E224Q | missense_variant | 0.92 | 0 |
17:7674861:T | E224K | missense_variant | 0.92 | 0 |
17:7675064:T | S183* | stop_gained | 0.91 | 0 |
17:7674261:C | Y234* | stop_gained | 0.91 | 0 |
17:7674261:T | Y234* | stop_gained | 0.91 | 0 |
17:7675055:G | D186A | missense_variant | 0.91 | 0 |
17:7675055:C | D186G | missense_variant | 0.91 | 0 |
17:7675055:A | D186V | missense_variant | 0.91 | 0 |
17:7674957:A | Q192* | stop_gained | 0.91 | 0 |
17:7673747:G | K291N | missense_variant | 0.91 | 0 |
17:7673747:A | K291N | missense_variant | 0.91 | 0 |
17:7673744:A | K292N | missense_variant | 0.90 | 0 |
17:7673744:G | K292N | missense_variant | 0.90 | 0 |
17:7673751:A | R290L | missense_variant | 0.90 | 0 |
17:7673751:G | R290P | missense_variant | 0.90 | 0 |
17:7673751:T | R290H | missense_variant | 0.90 | 0 |
17:7675119:A | Q165* | stop_gained | 0.90 | 0 |
17:7674255:C | Y236* | stop_gained | 0.90 | 0 |
17:7674255:T | Y236* | stop_gained | 0.90 | 0 |
17:7675059:G | S185R | missense_variant | 0.90 | 0 |
17:7675059:C | S185G | missense_variant | 0.90 | 0 |
17:7675059:A | S185C | missense_variant | 0.90 | 0 |
17:7675113:A | Q167* | stop_gained | 0.89 | 0 |
17:7673756:T | N288K | missense_variant | 0.88 | 0 |
17:7673756:C | N288K | missense_variant | 0.88 | 0 |
17:7674879:A | V218L | missense_variant | 0.88 | 0 |
17:7674879:T | V218M | missense_variant | 0.88 | 0 |
17:7674879:G | V218L | missense_variant | 0.88 | 0 |
17:7673817:A | N268I | missense_variant | 0.88 | 0 |
17:7673817:C | N268S | missense_variant | 0.88 | 0 |
17:7673817:G | N268T | missense_variant | 0.88 | 0 |
17:7674881:C | V217G | missense_variant | 0.88 | 0 |
17:7674881:G | V217A | missense_variant | 0.88 | 0 |
17:7674881:T | V217E | missense_variant | 0.88 | 0 |
17:7675062:A | D184Y | missense_variant | 0.88 | 0 |
17:7675062:G | D184H | missense_variant | 0.88 | 0 |
17:7675062:T | D184N | missense_variant | 0.88 | 0 |
17:7674237:T | C242* | stop_gained | 0.88 | 0 |
17:7674909:A | D208Y | missense_variant | 0.88 | 0 |
17:7674909:T | D208N | missense_variant | 0.88 | 0 |
17:7674909:G | D208H | missense_variant | 0.88 | 0 |
17:7674900:A | T211S | missense_variant | 0.87 | 0 |
17:7674900:C | T211A | missense_variant | 0.87 | 0 |
17:7674900:G | T211P | missense_variant | 0.87 | 0 |
17:7674899:A | T211I | missense_variant | 0.87 | 0 |
17:7674899:C | T211S | missense_variant | 0.87 | 0 |
17:7674899:T | T211N | missense_variant | 0.87 | 0 |
17:7674918:C | Y205D | missense_variant | 0.87 | 0 |
17:7674918:G | Y205H | missense_variant | 0.87 | 0 |
17:7674918:T | Y205N | missense_variant | 0.87 | 0 |
17:7674873:T | Y220N | missense_variant | 0.87 | 0 |
17:7674873:G | Y220H | missense_variant | 0.87 | 0 |
17:7674873:C | Y220D | missense_variant | 0.87 | 0 |
17:7674917:C | Y205C | missense_variant | 0.87 | 0 |
17:7674908:G | D208A | missense_variant | 0.87 | 0 |
17:7674908:C | D208G | missense_variant | 0.87 | 0 |
17:7674908:A | D208V | missense_variant | 0.87 | 0 |
17:7674917:A | Y205F | missense_variant | 0.87 | 0 |
17:7674885:A | V216L | missense_variant | 0.86 | 0 |
17:7674885:G | V216L | missense_variant | 0.86 | 0 |
17:7674893:G | R213P | missense_variant | 0.86 | 0 |
17:7674893:T | R213Q | missense_variant | 0.86 | 0 |
17:7674885:T | V216M | missense_variant | 0.86 | 0 |
17:7674893:A | R213L | missense_variant | 0.86 | 0 |
17:7674901:T | N210K | missense_variant | 0.86 | 0 |
17:7674901:C | N210K | missense_variant | 0.86 | 0 |
17:7674906:C | R209G | missense_variant | 0.86 | 0 |
17:7674913:G | L206F | missense_variant | 0.86 | 0 |
17:7674913:A | L206F | missense_variant | 0.86 | 0 |
17:7674915:C | L206V | missense_variant | 0.86 | 0 |
17:7674915:T | L206M | missense_variant | 0.86 | 0 |
17:7674910:T | D207E | missense_variant | 0.86 | 0 |
17:7674910:C | D207E | missense_variant | 0.86 | 0 |
17:7674905:T | R209K | missense_variant | 0.86 | 0 |
17:7674905:G | R209T | missense_variant | 0.86 | 0 |
17:7674905:A | R209I | missense_variant | 0.86 | 0 |
17:7674904:G | R209S | missense_variant | 0.86 | 0 |
17:7674904:A | R209S | missense_variant | 0.86 | 0 |
17:7674903:G | N210H | missense_variant | 0.86 | 0 |
17:7674903:C | N210D | missense_variant | 0.86 | 0 |
17:7674903:A | N210Y | missense_variant | 0.86 | 0 |
17:7674902:G | N210T | missense_variant | 0.86 | 0 |
17:7674902:C | N210S | missense_variant | 0.86 | 0 |
17:7674902:A | N210I | missense_variant | 0.86 | 0 |
17:7673757:C | N288S | missense_variant | 0.86 | 0 |
17:7673757:G | N288T | missense_variant | 0.86 | 0 |
17:7673757:A | N288I | missense_variant | 0.86 | 0 |
17:7674182:A | S261C | missense_variant | 0.86 | 0 |
17:7674182:C | S261G | missense_variant | 0.86 | 0 |
17:7674182:G | S261R | missense_variant | 0.86 | 0 |
17:7674890:C | H214R | missense_variant | 0.86 | 0 |
17:7674890:G | H214P | missense_variant | 0.86 | 0 |
17:7674890:A | H214L | missense_variant | 0.86 | 0 |
17:7674878:G | V218A | missense_variant | 0.86 | 0 |
17:7674884:C | V216G | missense_variant | 0.86 | 0 |
17:7674884:T | V216E | missense_variant | 0.86 | 0 |
17:7674878:C | V218G | missense_variant | 0.86 | 0 |
17:7674884:G | V216A | missense_variant | 0.86 | 0 |
17:7674878:T | V218E | missense_variant | 0.86 | 0 |
17:7674891:T | H214N | missense_variant | 0.86 | 0 |
17:7674891:C | H214D | missense_variant | 0.86 | 0 |
17:7674891:A | H214Y | missense_variant | 0.86 | 0 |
17:7675115:C | S166* | stop_gained | 0.86 | 0 |
17:7675115:T | S166* | stop_gained | 0.86 | 0 |
17:7674191:A | E258* | stop_gained | 0.86 | 0 |
17:7675056:T | D186N | missense_variant | 0.83 | 0 |
17:7675056:G | D186H | missense_variant | 0.83 | 0 |
17:7675056:A | D186Y | missense_variant | 0.83 | 0 |
17:7673809:G | E271Q | missense_variant | 0.83 | 0 |
17:7673809:T | E271K | missense_variant | 0.83 | 0 |
17:7673830:C | L264V | missense_variant | 0.83 | 0 |
17:7673830:T | L264I | missense_variant | 0.83 | 0 |
17:7674198:C | I255M | missense_variant | 0.83 | 0 |
17:7673813:C | S269R | missense_variant | 0.83 | 0 |
17:7673813:T | S269R | missense_variant | 0.83 | 0 |
17:7673811:T | F270Y | missense_variant | 0.83 | 0 |
17:7673811:G | F270S | missense_variant | 0.83 | 0 |
17:7673811:C | F270C | missense_variant | 0.83 | 0 |
17:7673808:G | E271A | missense_variant | 0.83 | 0 |
17:7673808:A | E271V | missense_variant | 0.83 | 0 |
17:7673808:C | E271G | missense_variant | 0.83 | 0 |
17:7673812:C | F270V | missense_variant | 0.83 | 0 |
17:7673799:G | V274A | missense_variant | 0.83 | 0 |
17:7673799:T | V274D | missense_variant | 0.83 | 0 |
17:7673812:G | F270L | missense_variant | 0.83 | 0 |
17:7673812:T | F270I | missense_variant | 0.83 | 0 |
17:7673799:C | V274G | missense_variant | 0.83 | 0 |
17:7674276:T | C229* | stop_gained | 0.83 | 0 |
17:7675061:C | D184G | missense_variant | 0.82 | 0 |
17:7675061:A | D184V | missense_variant | 0.82 | 0 |
17:7675061:G | D184A | missense_variant | 0.82 | 0 |
17:7675074:A | E180* | stop_gained | 0.81 | 0 |
17:7675066:T | C182* | stop_gained | 0.81 | 0 |
17:7674205:T | T253N | missense_variant | 0.80 | 0 |
17:7674205:A | T253I | missense_variant | 0.80 | 0 |
17:7674205:C | T253S | missense_variant | 0.80 | 0 |
17:7674265:C | H233R | missense_variant | 0.80 | 0 |
17:7674265:A | H233L | missense_variant | 0.80 | 0 |
17:7674265:G | H233P | missense_variant | 0.80 | 0 |
17:7675154:A | P153L | missense_variant | 0.79 | 0 |
17:7675154:C | P153R | missense_variant | 0.79 | 0 |
17:7675154:T | P153H | missense_variant | 0.79 | 0 |
17:7674907:C | D208E | missense_variant | 0.78 | 0 |
17:7674907:T | D208E | missense_variant | 0.78 | 0 |
17:7674945:C | R196G | missense_variant | 0.78 | 0 |
17:7675054:G | D186D | splice_region_variant | 0.78 | 0 |
17:7674190:G | E258A | missense_variant | 0.78 | 0 |
17:7674190:C | E258G | missense_variant | 0.78 | 0 |
17:7674190:A | E258V | missense_variant | 0.78 | 0 |
17:7674896:T | F212Y | missense_variant | 0.78 | 0 |
17:7674896:C | F212C | missense_variant | 0.78 | 0 |
17:7674896:G | F212S | missense_variant | 0.78 | 0 |
17:7673833:C | N263D | missense_variant | 0.78 | 0 |
17:7673833:G | N263H | missense_variant | 0.78 | 0 |
17:7673833:A | N263Y | missense_variant | 0.78 | 0 |
17:7674897:C | F212V | missense_variant | 0.78 | 0 |
17:7674897:T | F212I | missense_variant | 0.78 | 0 |
17:7674897:G | F212L | missense_variant | 0.78 | 0 |
17:7674895:C | F212L | missense_variant | 0.78 | 0 |
17:7674895:T | F212L | missense_variant | 0.78 | 0 |
17:7674184:C | S260C | missense_variant | 0.77 | 0 |
17:7674184:A | S260F | missense_variant | 0.77 | 0 |
17:7674184:T | S260Y | missense_variant | 0.77 | 0 |
17:7673829:C | L264R | missense_variant | 0.77 | 0 |
17:7673829:G | L264P | missense_variant | 0.77 | 0 |
17:7673829:T | L264Q | missense_variant | 0.77 | 0 |
17:7673761:A | E287* | stop_gained | 0.77 | 0 |
17:7674894:C | R213G | missense_variant | 0.76 | 0 |
17:7674183:C | S260S | splice_region_variant | 0.76 | 0 |
17:7674183:T | S260S | splice_region_variant | 0.76 | 0 |
17:7674183:A | S260S | splice_region_variant | 0.76 | 0 |
17:7674886:C | S215R | missense_variant | 0.76 | 0 |
17:7674886:T | S215R | missense_variant | 0.76 | 0 |
17:7674882:T | V217M | missense_variant | 0.76 | 0 |
17:7674882:A | V217L | missense_variant | 0.76 | 0 |
17:7674889:C | H214Q | missense_variant | 0.76 | 0 |
17:7674889:T | H214Q | missense_variant | 0.76 | 0 |
17:7674882:G | V217L | missense_variant | 0.76 | 0 |
17:7674181:G | S261T | missense_variant | 0.74 | 0 |
17:7674181:A | S261I | missense_variant | 0.74 | 0 |
17:7674181:T | S261N | missense_variant | 0.74 | 0 |
17:7674209:T | L252I | missense_variant | 0.73 | 0 |
17:7674209:A | L252F | missense_variant | 0.73 | 0 |
17:7674209:C | L252V | missense_variant | 0.73 | 0 |
17:7675058:T | S185N | missense_variant | 0.73 | 0 |
17:7675058:A | S185I | missense_variant | 0.73 | 0 |
17:7675058:G | S185T | missense_variant | 0.73 | 0 |
17:7673807:G | E271D | missense_variant | 0.73 | 0 |
17:7673807:A | E271D | missense_variant | 0.73 | 0 |
17:7675119:T | Q165K | missense_variant | 0.73 | 0 |
17:7675119:C | Q165E | missense_variant | 0.73 | 0 |
17:7673816:C | N268K | missense_variant | 0.72 | 0 |
17:7673816:T | N268K | missense_variant | 0.72 | 0 |
17:7675057:T | S185R | missense_variant | 0.72 | 0 |
17:7675054:C | D186E | missense_variant | 0.72 | 0 |
17:7675057:C | S185R | missense_variant | 0.72 | 0 |
17:7675060:C | D184E | missense_variant | 0.72 | 0 |
17:7675054:T | D186E | missense_variant | 0.72 | 0 |
17:7675060:T | D184E | missense_variant | 0.72 | 0 |
17:7674194:C | L257V | missense_variant | 0.72 | 0 |
17:7674194:T | L257M | missense_variant | 0.72 | 0 |
17:7674210:C | I251M | missense_variant | 0.72 | 0 |
17:7674208:G | L252P | missense_variant | 0.72 | 0 |
17:7674208:T | L252H | missense_variant | 0.72 | 0 |
17:7674208:C | L252R | missense_variant | 0.72 | 0 |
17:7673810:T | F270L | missense_variant | 0.72 | 0 |
17:7673810:C | F270L | missense_variant | 0.72 | 0 |
17:7673800:T | V274I | missense_variant | 0.72 | 0 |
17:7673800:A | V274F | missense_variant | 0.72 | 0 |
17:7673800:G | V274L | missense_variant | 0.72 | 0 |
17:7673818:A | N268Y | missense_variant | 0.72 | 0 |
17:7673818:C | N268D | missense_variant | 0.72 | 0 |
17:7673818:G | N268H | missense_variant | 0.72 | 0 |
17:7674193:T | L257Q | missense_variant | 0.72 | 0 |
17:7674193:G | L257P | missense_variant | 0.72 | 0 |
17:7674193:C | L257R | missense_variant | 0.72 | 0 |
17:7674199:T | I255N | missense_variant | 0.72 | 0 |
17:7674199:G | I255T | missense_variant | 0.72 | 0 |
17:7674199:C | I255S | missense_variant | 0.72 | 0 |
17:7675126:C | I162M | missense_variant | 0.72 | 0 |
17:7673782:C | R280G | missense_variant | 0.72 | 0 |
17:7674211:C | I251S | missense_variant | 0.72 | 0 |
17:7674211:T | I251N | missense_variant | 0.72 | 0 |
17:7674211:G | I251T | missense_variant | 0.72 | 0 |
17:7675101:A | E171* | stop_gained | 0.72 | 0 |
17:7673767:A | E285* | stop_gained | 0.72 | 0 |
17:7673764:A | E286* | stop_gained | 0.72 | 0 |
17:7674266:A | H233Y | missense_variant | 0.72 | 0 |
17:7674266:T | H233N | missense_variant | 0.72 | 0 |
17:7674266:C | H233D | missense_variant | 0.72 | 0 |
17:7675132:A | M160I | missense_variant | 0.72 | 0 |
17:7675132:T | M160I | missense_variant | 0.72 | 0 |
17:7675132:G | M160I | missense_variant | 0.72 | 0 |
17:7674188:G | D259H | missense_variant | 0.72 | 0 |
17:7674188:T | D259N | missense_variant | 0.72 | 0 |
17:7674188:A | D259Y | missense_variant | 0.72 | 0 |
17:7673837:G | S261S | splice_region_variant | 0.71 | 0 |
17:7674956:G | Q192P | missense_variant | 0.71 | 0 |
17:7674956:C | Q192R | missense_variant | 0.71 | 0 |
17:7674956:A | Q192L | missense_variant | 0.71 | 0 |
17:7675122:A | K164* | stop_gained | 0.71 | 0 |
17:7675113:C | Q167E | missense_variant | 0.71 | 0 |
17:7675113:T | Q167K | missense_variant | 0.71 | 0 |
17:7674212:G | I251L | missense_variant | 0.71 | 0 |
17:7674212:C | I251V | missense_variant | 0.71 | 0 |
17:7674212:A | I251F | missense_variant | 0.71 | 0 |
17:7674215:T | P250T | missense_variant | 0.71 | 0 |
17:7674214:A | P250L | missense_variant | 0.71 | 0 |
17:7674214:C | P250R | missense_variant | 0.71 | 0 |
17:7674214:T | P250H | missense_variant | 0.71 | 0 |
17:7674215:A | P250S | missense_variant | 0.71 | 0 |
17:7674215:C | P250A | missense_variant | 0.71 | 0 |
17:7674249:T | C238* | stop_gained | 0.71 | 0 |
17:7674206:C | T253A | missense_variant | 0.70 | 0 |
17:7674206:A | T253S | missense_variant | 0.70 | 0 |
17:7674206:G | T253P | missense_variant | 0.70 | 0 |
17:7673827:T | L265M | missense_variant | 0.70 | 0 |
17:7673827:C | L265V | missense_variant | 0.70 | 0 |
17:7673832:G | N263T | missense_variant | 0.70 | 0 |
17:7673832:C | N263S | missense_variant | 0.70 | 0 |
17:7673832:A | N263I | missense_variant | 0.70 | 0 |
17:7675064:A | S183L | missense_variant | 0.69 | 0 |
17:7674953:G | H193P | missense_variant | 0.68 | 0 |
17:7674948:A | I195F | missense_variant | 0.68 | 0 |
17:7674948:C | I195V | missense_variant | 0.68 | 0 |
17:7674948:G | I195L | missense_variant | 0.68 | 0 |
17:7674953:A | H193L | missense_variant | 0.68 | 0 |
17:7674953:C | H193R | missense_variant | 0.68 | 0 |
17:7674951:A | L194F | missense_variant | 0.68 | 0 |
17:7674951:T | L194I | missense_variant | 0.68 | 0 |
17:7674951:C | L194V | missense_variant | 0.68 | 0 |
17:7674954:T | H193N | missense_variant | 0.68 | 0 |
17:7674947:C | I195S | missense_variant | 0.68 | 0 |
17:7674947:G | I195T | missense_variant | 0.68 | 0 |
17:7674947:T | I195N | missense_variant | 0.68 | 0 |
17:7674950:C | L194R | missense_variant | 0.68 | 0 |
17:7674950:G | L194P | missense_variant | 0.68 | 0 |
17:7674950:T | L194H | missense_variant | 0.68 | 0 |
17:7674954:A | H193Y | missense_variant | 0.68 | 0 |
17:7674954:C | H193D | missense_variant | 0.68 | 0 |
17:7675123:T | Y163* | stop_gained | 0.67 | 0 |
17:7675123:C | Y163* | stop_gained | 0.67 | 0 |
17:7675053:A | G187C | missense_variant | 0.67 | 0 |
17:7675053:T | G187S | missense_variant | 0.67 | 0 |
17:7675053:G | G187R | missense_variant | 0.67 | 0 |
17:7675155:C | P153A | missense_variant | 0.67 | 0 |
17:7675155:T | P153T | missense_variant | 0.67 | 0 |
17:7675155:A | P153S | missense_variant | 0.67 | 0 |
17:7675084:T | C176* | stop_gained | 0.66 | 0 |
17:7674946:C | I195M | missense_variant | 0.66 | 0 |
17:7673789:T | C277* | stop_gained | 0.66 | 0 |
17:7673758:A | N288Y | missense_variant | 0.66 | 0 |
17:7673758:G | N288H | missense_variant | 0.66 | 0 |
17:7673758:C | N288D | missense_variant | 0.66 | 0 |
17:7674957:C | Q192E | missense_variant | 0.65 | 0 |
17:7674957:T | Q192K | missense_variant | 0.65 | 0 |
17:7674185:C | S260A | missense_variant | 0.65 | 0 |
17:7674185:T | S260T | missense_variant | 0.65 | 0 |
17:7674185:G | S260P | missense_variant | 0.65 | 0 |
17:7673837:C | S261R | missense_variant | 0.65 | 0 |
17:7673837:T | S261R | missense_variant | 0.65 | 0 |
17:7674260:G | N235H | missense_variant | 0.64 | 0 |
17:7674272:A | T231S | missense_variant | 0.64 | 0 |
17:7674272:C | T231A | missense_variant | 0.64 | 0 |
17:7674272:G | T231P | missense_variant | 0.64 | 0 |
17:7674260:A | N235Y | missense_variant | 0.64 | 0 |
17:7674260:C | N235D | missense_variant | 0.64 | 0 |
17:7674271:T | T231N | missense_variant | 0.64 | 0 |
17:7674271:C | T231S | missense_variant | 0.64 | 0 |
17:7674271:A | T231I | missense_variant | 0.64 | 0 |
17:7673770:A | T284S | missense_variant | 0.64 | 0 |
17:7673770:C | T284A | missense_variant | 0.64 | 0 |
17:7673770:G | T284P | missense_variant | 0.64 | 0 |
17:7675148:T | T155N | missense_variant | 0.63 | 0 |
17:7675148:C | T155S | missense_variant | 0.63 | 0 |
17:7675148:A | T155I | missense_variant | 0.63 | 0 |
17:7673836:A | G262C | missense_variant | 0.63 | 0 |
17:7673835:A | G262V | missense_variant | 0.63 | 0 |
17:7673836:G | G262R | missense_variant | 0.63 | 0 |
17:7674191:T | E258K | missense_variant | 0.63 | 0 |
17:7674191:G | E258Q | missense_variant | 0.63 | 0 |
17:7673836:T | G262S | missense_variant | 0.63 | 0 |
17:7673835:T | G262D | missense_variant | 0.63 | 0 |
17:7673835:G | G262A | missense_variant | 0.63 | 0 |
17:7674259:A | N235I | missense_variant | 0.62 | 0 |
17:7674259:C | N235S | missense_variant | 0.62 | 0 |
17:7674259:G | N235T | missense_variant | 0.62 | 0 |
17:7675092:A | R174W | missense_variant | 0.62 | 0 |
17:7675092:C | R174G | missense_variant | 0.62 | 0 |
17:7673760:G | E287A | missense_variant | 0.62 | 0 |
17:7673760:C | E287G | missense_variant | 0.62 | 0 |
17:7673760:A | E287V | missense_variant | 0.62 | 0 |
17:7674220:T | R248Q | missense_variant | 0.61 | 0 |
17:7674220:A | R248L | missense_variant | 0.61 | 0 |
17:7674220:G | R248P | missense_variant | 0.61 | 0 |
17:7674237:C | C242W | missense_variant | 0.60 | 0 |
17:7674242:G | S241P | missense_variant | 0.60 | 0 |
17:7674242:C | S241A | missense_variant | 0.60 | 0 |
17:7674242:T | S241T | missense_variant | 0.60 | 0 |
17:7673784:T | G279E | missense_variant | 0.60 | 0 |
17:7673784:G | G279A | missense_variant | 0.60 | 0 |
17:7673784:A | G279V | missense_variant | 0.60 | 0 |
17:7674187:C | D259G | missense_variant | 0.60 | 0 |
17:7674187:G | D259A | missense_variant | 0.60 | 0 |
17:7674187:A | D259V | missense_variant | 0.60 | 0 |
17:7673790:G | C277S | missense_variant | 0.60 | 0 |
17:7673790:A | C277F | missense_variant | 0.60 | 0 |
17:7673790:T | C277Y | missense_variant | 0.60 | 0 |
17:7674267:C | I232M | missense_variant | 0.60 | 0 |
17:7675103:A | T170M | missense_variant | 0.59 | 0 |
17:7675103:C | T170R | missense_variant | 0.59 | 0 |
17:7675103:T | T170K | missense_variant | 0.59 | 0 |
17:7675112:A | Q167L | missense_variant | 0.59 | 0 |
17:7675112:C | Q167R | missense_variant | 0.59 | 0 |
17:7675112:G | Q167P | missense_variant | 0.59 | 0 |
17:7675118:A | Q165L | missense_variant | 0.59 | 0 |
17:7675118:C | Q165R | missense_variant | 0.59 | 0 |
17:7675118:G | Q165P | missense_variant | 0.59 | 0 |
17:7674274:C | T230S | missense_variant | 0.59 | 0 |
17:7674274:T | T230N | missense_variant | 0.59 | 0 |
17:7674274:A | T230I | missense_variant | 0.59 | 0 |
17:7674200:C | I255V | missense_variant | 0.59 | 0 |
17:7674200:A | I255F | missense_variant | 0.59 | 0 |
17:7674200:G | I255L | missense_variant | 0.59 | 0 |
17:7675115:A | S166L | missense_variant | 0.59 | 0 |
17:7674244:G | S240T | missense_variant | 0.57 | 0 |
17:7674244:T | S240N | missense_variant | 0.57 | 0 |
17:7674244:A | S240I | missense_variant | 0.57 | 0 |
17:7674262:G | Y234S | missense_variant | 0.57 | 0 |
17:7674262:C | Y234C | missense_variant | 0.57 | 0 |
17:7674262:A | Y234F | missense_variant | 0.57 | 0 |
17:7674256:G | Y236S | missense_variant | 0.57 | 0 |
17:7674256:A | Y236F | missense_variant | 0.57 | 0 |
17:7674256:C | Y236C | missense_variant | 0.57 | 0 |
17:7674241:A | S241F | missense_variant | 0.56 | 0 |
17:7674241:T | S241Y | missense_variant | 0.56 | 0 |
17:7674241:C | S241C | missense_variant | 0.56 | 0 |
17:7675076:A | H179L | missense_variant | 0.56 | 0 |
17:7675076:G | H179P | missense_variant | 0.56 | 0 |
17:7675076:C | H179R | missense_variant | 0.56 | 0 |
17:7674275:A | T230S | missense_variant | 0.56 | 0 |
17:7674275:C | T230A | missense_variant | 0.56 | 0 |
17:7674275:G | T230P | missense_variant | 0.56 | 0 |
17:7675071:C | R181G | missense_variant | 0.54 | 0 |
17:7675071:A | R181C | missense_variant | 0.54 | 0 |
17:7675071:T | R181S | missense_variant | 0.54 | 0 |
17:7673777:C | D281E | missense_variant | 0.53 | 0 |
17:7673777:T | D281E | missense_variant | 0.53 | 0 |
17:7674952:T | H193Q | missense_variant | 0.52 | 0 |
17:7674952:C | H193Q | missense_variant | 0.52 | 0 |
17:7674955:A | Q192H | missense_variant | 0.52 | 0 |
17:7674955:G | Q192H | missense_variant | 0.52 | 0 |
17:7675109:C | H168R | missense_variant | 0.52 | 0 |
17:7675109:A | H168L | missense_variant | 0.52 | 0 |
17:7675109:G | H168P | missense_variant | 0.52 | 0 |
17:7675128:G | I162L | missense_variant | 0.52 | 0 |
17:7675128:C | I162V | missense_variant | 0.52 | 0 |
17:7675128:A | I162F | missense_variant | 0.52 | 0 |
17:7675124:A | Y163F | missense_variant | 0.52 | 0 |
17:7675124:C | Y163C | missense_variant | 0.52 | 0 |
17:7675124:G | Y163S | missense_variant | 0.52 | 0 |
17:7675107:A | M169L | missense_variant | 0.52 | 0 |
17:7675107:C | M169V | missense_variant | 0.52 | 0 |
17:7675107:G | M169L | missense_variant | 0.52 | 0 |
17:7675080:A | H178Y | missense_variant | 0.52 | 0 |
17:7675080:T | H178N | missense_variant | 0.52 | 0 |
17:7675080:C | H178D | missense_variant | 0.52 | 0 |
17:7675133:T | M160K | missense_variant | 0.52 | 0 |
17:7675133:C | M160R | missense_variant | 0.52 | 0 |
17:7675133:G | M160T | missense_variant | 0.52 | 0 |
17:7674276:C | C229W | missense_variant | 0.51 | 0 |
17:7675098:A | V172F | missense_variant | 0.51 | 0 |
17:7675137:A | A159S | missense_variant | 0.51 | 0 |
17:7675137:G | A159P | missense_variant | 0.51 | 0 |
17:7675137:T | A159T | missense_variant | 0.51 | 0 |
17:7675098:T | V172I | missense_variant | 0.51 | 0 |
17:7675098:G | V172L | missense_variant | 0.51 | 0 |
17:7675074:T | E180K | missense_variant | 0.51 | 0 |
17:7675074:G | E180Q | missense_variant | 0.51 | 0 |
17:7674245:G | S240R | missense_variant | 0.51 | 0 |
17:7674245:A | S240C | missense_variant | 0.51 | 0 |
17:7674245:C | S240G | missense_variant | 0.51 | 0 |
17:7674234:A | M243I | missense_variant | 0.51 | 0 |
17:7674234:G | M243I | missense_variant | 0.51 | 0 |
17:7674234:T | M243I | missense_variant | 0.51 | 0 |
17:7674264:C | H233Q | missense_variant | 0.51 | 0 |
17:7674264:T | H233Q | missense_variant | 0.51 | 0 |
17:7674258:C | N235K | missense_variant | 0.51 | 0 |
17:7674258:T | N235K | missense_variant | 0.51 | 0 |
Cancer type | Selected cancer type | Mutational discovery Index | Feature Complexity |
---|---|---|---|
(PIA) Pilocityc astrocytoma | PIA | 0.41 | 0.26 |