{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2305022649", "communityStandardTitle": [ "NM_001083962.2(TCF4):c.873C= (p.Tyr291=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1064796538", "rs": 1064796538 } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "G", "end": 55269880, "referenceAllele": "G", "start": 55269879 } ], "hgvs": [ "NC_000018.10:g.55269880G=", "CM000680.2:g.55269880G=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "G", "end": 52937111, "referenceAllele": "G", "start": 52937110 } ], "hgvs": [ "NC_000018.9:g.52937111G=", "CM000680.1:g.52937111G=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "G", "end": 51088109, "referenceAllele": "G", "start": 51088108 } ], "hgvs": [ "NC_000018.8:g.51088109G=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "C", "end": 323750, "referenceAllele": "C", "start": 323749 } ], "hgvs": [ "NG_011716.1:g.323750C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS001922" }, { "coordinates": [ { "allele": "C", "end": 371114, "referenceAllele": "C", "start": 371113 } ], "hgvs": [ "NG_011716.2:g.371114C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS616147" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1048, "referenceAllele": "C", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000354452.8:c.873C=" ], "proteinEffect": { "hgvs": "ENSP00000346440.3:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS748567", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354452.8:c.873C=" }, "RefSeq": { "hgvs": "NM_001083962.2:c.873C=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346440.3:p.Tyr291=" }, "RefSeq": { "hgvs": "NP_001077431.1:p.Tyr291=" } } } }, { "coordinates": [ { "allele": "C", "end": 1000, "referenceAllele": "C", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000630720.3:c.393C=" ], "proteinEffect": { "hgvs": "ENSP00000487218.1:p.Tyr131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS762535" }, { "coordinates": [ { "allele": "C", "end": 1082, "referenceAllele": "C", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000635822.2:c.873C=" ], "proteinEffect": { "hgvs": "ENSP00000490451.1:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS762662" }, { "coordinates": [ { "allele": "C", "end": 553, "referenceAllele": "C", "start": 552 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000635990.2:n.553C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS762789" }, { "coordinates": [ { "allele": "C", "end": 1499, "referenceAllele": "C", "start": 1498 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000636400.2:c.801C=" ], "proteinEffect": { "hgvs": "ENSP00000490006.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS763085" }, { "coordinates": [ { "allele": "C", "end": 1440, "referenceAllele": "C", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000636751.2:c.*581C=" ], "proteinEffect": { "hgvs": "ENSP00000489783.1:n.*581C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS763352" }, { "coordinates": [ { "allele": "C", "end": 797, "referenceAllele": "C", "start": 796 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000636822.2:c.483C=" ], "proteinEffect": { "hgvs": "ENSP00000490883.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS763407" }, { "coordinates": [ { "allele": "C", "end": 1052, "referenceAllele": "C", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000637115.2:c.*763C=" ], "proteinEffect": { "hgvs": "ENSP00000490234.1:n.*763C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS763626" }, { "coordinates": [ { "allele": "C", "end": 710, "referenceAllele": "C", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000637169.2:c.225C=" ], "proteinEffect": { "hgvs": "ENSP00000490832.1:p.Tyr75=" }, "referenceSequence": "http://reg.genome.network/refseq/RS763662" }, { "coordinates": [ { "allele": "C", "end": 940, "referenceAllele": "C", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000637239.2:n.940C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS763719" }, { "coordinates": [ { "allele": "C", "end": 567, "referenceAllele": "C", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000637250.2:n.567C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS763727" }, { "coordinates": [ { "allele": "C", "end": 471, "referenceAllele": "C", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000637923.2:c.471C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS764212" }, { "coordinates": [ { "allele": "C", "end": 1106, "referenceAllele": "C", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000638154.3:c.903C=" ], "proteinEffect": { "hgvs": "ENSP00000490625.2:p.Tyr301=" }, "referenceSequence": "http://reg.genome.network/refseq/RS764384" }, { "coordinates": [ { "allele": "C", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000643689.1:c.483C=" ], "proteinEffect": { "hgvs": "ENSP00000494380.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS767412" }, { "coordinates": [ { "allele": "C", "end": 766, "referenceAllele": "C", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000674764.1:c.*484C=" ], "proteinEffect": { "hgvs": "ENSP00000502213.1:n.*484C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS774681" }, { "coordinates": [ { "allele": "C", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000675707.1:c.483C=" ], "proteinEffect": { "hgvs": "ENSP00000501758.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS775490" }, { "coordinates": [ { "allele": "C", "end": 1088, "referenceAllele": "C", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000354452.7:c.873C=" ], "proteinEffect": { "hgvs": "ENSP00000346440.3:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS263131" }, { "coordinates": [ { "allele": "C", "end": 1485, "referenceAllele": "C", "start": 1484 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000356073.8:c.873C=" ], "proteinEffect": { "hgvs": "ENSP00000348374.4:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS263636" }, { "coordinates": [ { "allele": "C", "end": 1309, "referenceAllele": "C", "start": 1308 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000398339.5:c.1179C=" ], "proteinEffect": { "hgvs": "ENSP00000381382.1:p.Tyr393=" }, "referenceSequence": "http://reg.genome.network/refseq/RS278231" }, { "coordinates": [ { "allele": "C", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000457482.7:c.393C=" ], "proteinEffect": { "hgvs": "ENSP00000409447.2:p.Tyr131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS303973" }, { "coordinates": [ { "allele": "C", "end": 1341, "referenceAllele": "C", "start": 1340 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000537578.5:c.801C=" ], "proteinEffect": { "hgvs": "ENSP00000440731.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS360846" }, { "coordinates": [ { "allele": "C", "end": 679, "referenceAllele": "C", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000537856.7:c.483C=" ], "proteinEffect": { "hgvs": "ENSP00000439827.2:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS360997" }, { "coordinates": [ { "allele": "C", "end": 1096, "referenceAllele": "C", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000540999.5:c.801C=" ], "proteinEffect": { "hgvs": "ENSP00000445202.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS362707" }, { "coordinates": [ { "allele": "C", "end": 922, "referenceAllele": "C", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000543082.5:c.747C=" ], "proteinEffect": { "hgvs": "ENSP00000439656.1:p.Tyr249=" }, "referenceSequence": "http://reg.genome.network/refseq/RS363812" }, { "coordinates": [ { "allele": "C", "end": 941, "referenceAllele": "C", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000544241.6:c.660C=" ], "proteinEffect": { "hgvs": "ENSP00000441562.2:p.Tyr220=" }, "referenceSequence": "http://reg.genome.network/refseq/RS364455" }, { "coordinates": [ { "allele": "C", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000561831.7:c.393C=" ], "proteinEffect": { "hgvs": "ENSP00000457765.1:p.Tyr131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS376381" }, { "coordinates": [ { "allele": "C", "end": 882, "referenceAllele": "C", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000561992.5:c.483C=" ], "proteinEffect": { "hgvs": "ENSP00000455179.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS376488" }, { "coordinates": [ { "allele": "C", "end": 1029, "referenceAllele": "C", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000562030.3:c.483C=" ], "proteinEffect": { "hgvs": "ENSP00000456220.2:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS376512" }, { "coordinates": [ { "allele": "C", "end": 594, "referenceAllele": "C", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000562607.5:c.483C=" ], "proteinEffect": { "hgvs": "ENSP00000455071.2:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS376899" }, { "coordinates": [ { "allele": "C", "end": 964, "referenceAllele": "C", "start": 963 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000562680.5:n.964C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS376940" }, { "coordinates": [ { "allele": "C", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000563686.5:n.728C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS377592" }, { "coordinates": [ { "allele": "C", "end": 465, "referenceAllele": "C", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000563760.5:n.465C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS377634" }, { "coordinates": [ { "allele": "C", "end": 660, "referenceAllele": "C", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000564228.5:c.660C=" ], "proteinEffect": { "hgvs": "ENSP00000455261.1:p.Tyr220=" }, "referenceSequence": "http://reg.genome.network/refseq/RS377953" }, { "coordinates": [ { "allele": "C", "end": 1454, "referenceAllele": "C", "start": 1453 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000564403.6:c.891C=" ], "proteinEffect": { "hgvs": "ENSP00000457263.1:p.Tyr297=" }, "referenceSequence": "http://reg.genome.network/refseq/RS378069" }, { "coordinates": [ { "allele": "C", "end": 1070, "referenceAllele": "C", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000564999.5:c.873C=" ], "proteinEffect": { "hgvs": "ENSP00000457649.1:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS378480" }, { "coordinates": [ { "allele": "C", "end": 1102, "referenceAllele": "C", "start": 1101 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000565018.6:c.621C=" ], "proteinEffect": { "hgvs": "ENSP00000455984.2:p.Tyr207=" }, "referenceSequence": "http://reg.genome.network/refseq/RS378492" }, { "coordinates": [ { "allele": "C", "end": 861, "referenceAllele": "C", "start": 860 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000566279.5:c.693C=" ], "proteinEffect": { "hgvs": "ENSP00000456125.1:p.Tyr231=" }, "referenceSequence": "http://reg.genome.network/refseq/RS379326" }, { "coordinates": [ { "allele": "C", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000566286.5:c.867C=" ], "proteinEffect": { "hgvs": "ENSP00000455418.2:p.Tyr289=" }, "referenceSequence": "http://reg.genome.network/refseq/RS379331" }, { "coordinates": [ { "allele": "C", "end": 940, "referenceAllele": "C", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000566514.5:c.834C=" ], "proteinEffect": { "hgvs": "ENSP00000456983.2:p.Tyr278=" }, "referenceSequence": "http://reg.genome.network/refseq/RS379494" }, { "coordinates": [ { "allele": "C", "end": 693, "referenceAllele": "C", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000567880.5:c.693C=" ], "proteinEffect": { "hgvs": "ENSP00000454366.1:p.Tyr231=" }, "referenceSequence": "http://reg.genome.network/refseq/RS380404" }, { "coordinates": [ { "allele": "C", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000568673.5:c.801C=" ], "proteinEffect": { "hgvs": "ENSP00000455135.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS380953" }, { "coordinates": [ { "allele": "C", "end": 1308, "referenceAllele": "C", "start": 1307 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000568740.5:c.798C=" ], "proteinEffect": { "hgvs": "ENSP00000455346.1:p.Tyr266=" }, "referenceSequence": "http://reg.genome.network/refseq/RS380991" }, { "coordinates": [ { "allele": "C", "end": 556, "referenceAllele": "C", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000569012.5:c.483C=" ], "proteinEffect": { "hgvs": "ENSP00000455304.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS381177" }, { "coordinates": [ { "allele": "C", "end": 137, "referenceAllele": "C", "start": 136 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000570146.3:c.137C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS381937" }, { "coordinates": [ { "allele": "C", "end": 690, "referenceAllele": "C", "start": 689 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000570177.6:c.483C=" ], "proteinEffect": { "hgvs": "ENSP00000454647.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS381959" }, { "coordinates": [ { "allele": "C", "end": 641, "referenceAllele": "C", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000570287.6:c.393C=" ], "proteinEffect": { "hgvs": "ENSP00000455763.1:p.Tyr131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS382029" }, { "coordinates": [ { "allele": "C", "end": 1305, "referenceAllele": "C", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000616053.4:c.621C=" ], "proteinEffect": { "hgvs": "ENSP00000478549.1:p.Tyr207=" }, "referenceSequence": "http://reg.genome.network/refseq/RS402894" }, { "coordinates": [ { "allele": "C", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000625849.2:n.733C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS406633" }, { "coordinates": [ { "allele": "C", "end": 570, "referenceAllele": "C", "start": 569 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000626584.2:c.225C=" ], "proteinEffect": { "hgvs": "ENSP00000486072.1:p.Tyr75=" }, "referenceSequence": "http://reg.genome.network/refseq/RS406758" }, { "coordinates": [ { "allele": "C", "end": 523, "endIntronDirection": "-", "endIntronOffset": 8346, "referenceAllele": "C", "start": 523, "startIntronDirection": "-", "startIntronOffset": 8347 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000627136.2:n.524-8347C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS406843" }, { "coordinates": [ { "allele": "C", "end": 1138, "referenceAllele": "C", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000628078.2:c.483C=" ], "proteinEffect": { "hgvs": "ENSP00000486909.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS406988" }, { "coordinates": [ { "allele": "C", "end": 635, "referenceAllele": "C", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000628636.2:c.483C=" ], "proteinEffect": { "hgvs": "ENSP00000485755.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS407083" }, { "coordinates": [ { "allele": "C", "end": 356, "referenceAllele": "C", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000628689.2:c.*16C=" ], "proteinEffect": { "hgvs": "ENSP00000487010.1:n.*16C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS407093" }, { "coordinates": [ { "allele": "C", "end": 581, "referenceAllele": "C", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000629343.2:c.483C=" ], "proteinEffect": { "hgvs": "ENSP00000486148.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS407207" }, { "coordinates": [ { "allele": "C", "end": 1404, "referenceAllele": "C", "start": 1403 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000629387.2:c.873C=" ], "proteinEffect": { "hgvs": "ENSP00000486670.1:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS407217" }, { "coordinates": [ { "allele": "C", "end": 466, "referenceAllele": "C", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000630720.2:c.393C=" ], "proteinEffect": { "hgvs": "ENSP00000487218.1:p.Tyr131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS407409" }, { "coordinates": [ { "allele": "C", "end": 713, "referenceAllele": "C", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000630828.2:c.663C=" ], "proteinEffect": { "hgvs": "ENSP00000486974.1:p.Tyr221=" }, "referenceSequence": "http://reg.genome.network/refseq/RS407428" }, { "coordinates": [ { "allele": "C", "end": 1485, "referenceAllele": "C", "start": 1484 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001083962.1:c.873C=" ], "proteinEffect": { "hgvs": "NP_001077431.1:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS010431" }, { "@id": "http://reg.genome.network/allele/PA3085600407", "coordinates": [ { "allele": "C", "end": 1275, "referenceAllele": "C", "start": 1274 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243226.2:c.1179C=" ], "proteinEffect": { "hgvs": "NP_001230155.2:p.Tyr393=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018449" }, { "coordinates": [ { "allele": "C", "end": 1319, "referenceAllele": "C", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243227.1:c.801C=" ], "proteinEffect": { "hgvs": "NP_001230156.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018450" }, { "coordinates": [ { "allele": "C", "end": 1429, "referenceAllele": "C", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243228.1:c.891C=" ], "proteinEffect": { "hgvs": "NP_001230157.1:p.Tyr297=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018451" }, { "coordinates": [ { "allele": "C", "end": 961, "referenceAllele": "C", "start": 960 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243230.1:c.867C=" ], "proteinEffect": { "hgvs": "NP_001230159.1:p.Tyr289=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018452" }, { "coordinates": [ { "allele": "C", "end": 919, "referenceAllele": "C", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243231.1:c.747C=" ], "proteinEffect": { "hgvs": "NP_001230160.1:p.Tyr249=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018453" }, { "coordinates": [ { "allele": "C", "end": 941, "referenceAllele": "C", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243232.1:c.660C=" ], "proteinEffect": { "hgvs": "NP_001230161.1:p.Tyr220=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018454" }, { "coordinates": [ { "allele": "C", "end": 882, "referenceAllele": "C", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243233.1:c.483C=" ], "proteinEffect": { "hgvs": "NP_001230162.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018455" }, { "coordinates": [ { "allele": "C", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243234.1:c.393C=" ], "proteinEffect": { "hgvs": "NP_001230163.1:p.Tyr131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018456" }, { "coordinates": [ { "allele": "C", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243235.1:c.393C=" ], "proteinEffect": { "hgvs": "NP_001230164.1:p.Tyr131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018457" }, { "coordinates": [ { "allele": "C", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243236.1:c.393C=" ], "proteinEffect": { "hgvs": "NP_001230165.1:p.Tyr131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018458" }, { "coordinates": [ { "allele": "C", "end": 1110, "referenceAllele": "C", "start": 1109 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001306207.1:c.801C=" ], "proteinEffect": { "hgvs": "NP_001293136.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS026030" }, { "coordinates": [ { "allele": "C", "end": 941, "referenceAllele": "C", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001306208.1:c.660C=" ], "proteinEffect": { "hgvs": "NP_001293137.1:p.Tyr220=" }, "referenceSequence": "http://reg.genome.network/refseq/RS026031" }, { "coordinates": [ { "allele": "C", "end": 1485, "referenceAllele": "C", "start": 1484 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_003199.2:c.873C=" ], "proteinEffect": { "hgvs": "NP_003190.1:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS028464" }, { "coordinates": [ { "allele": "C", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266739.3:c.801C=" ], "proteinEffect": { "hgvs": "XP_005266796.2:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS065157" }, { "coordinates": [ { "allele": "C", "end": 1085, "referenceAllele": "C", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266741.3:c.870C=" ], "proteinEffect": { "hgvs": "XP_005266798.1:p.Tyr290=" }, "referenceSequence": "http://reg.genome.network/refseq/RS065158" }, { "coordinates": [ { "allele": "C", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266743.3:c.801C=" ], "proteinEffect": { "hgvs": "XP_005266800.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS065159" }, { "coordinates": [ { "allele": "C", "end": 1066, "referenceAllele": "C", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266744.3:c.801C=" ], "proteinEffect": { "hgvs": "XP_005266801.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS065160" }, { "coordinates": [ { "allele": "C", "end": 928, "referenceAllele": "C", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266745.3:c.798C=" ], "proteinEffect": { "hgvs": "XP_005266802.1:p.Tyr266=" }, "referenceSequence": "http://reg.genome.network/refseq/RS065161" }, { "coordinates": [ { "allele": "C", "end": 922, "referenceAllele": "C", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266747.3:c.747C=" ], "proteinEffect": { "hgvs": "XP_005266804.1:p.Tyr249=" }, "referenceSequence": "http://reg.genome.network/refseq/RS065162" }, { "coordinates": [ { "allele": "C", "end": 713, "referenceAllele": "C", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266749.3:c.663C=" ], "proteinEffect": { "hgvs": "XP_005266806.1:p.Tyr221=" }, "referenceSequence": "http://reg.genome.network/refseq/RS065163" }, { "coordinates": [ { "allele": "C", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266752.3:c.483C=" ], "proteinEffect": { "hgvs": "XP_005266809.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS065164" }, { "coordinates": [ { "allele": "C", "end": 707, "referenceAllele": "C", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266754.3:c.483C=" ], "proteinEffect": { "hgvs": "XP_005266811.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS065165" }, { "coordinates": [ { "allele": "C", "end": 680, "referenceAllele": "C", "start": 679 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266755.3:c.483C=" ], "proteinEffect": { "hgvs": "XP_005266812.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS065166" }, { "coordinates": [ { "allele": "C", "end": 1026, "referenceAllele": "C", "start": 1025 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266761.3:c.393C=" ], "proteinEffect": { "hgvs": "XP_005266818.1:p.Tyr131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS065167" }, { "coordinates": [ { "allele": "C", "end": 1408, "referenceAllele": "C", "start": 1407 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722536.2:c.873C=" ], "proteinEffect": { "hgvs": "XP_006722599.1:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS074600" }, { "coordinates": [ { "allele": "C", "end": 1041, "referenceAllele": "C", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722537.2:c.873C=" ], "proteinEffect": { "hgvs": "XP_006722600.1:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS074601" }, { "coordinates": [ { "allele": "C", "end": 1063, "referenceAllele": "C", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722538.2:c.798C=" ], "proteinEffect": { "hgvs": "XP_006722601.1:p.Tyr266=" }, "referenceSequence": "http://reg.genome.network/refseq/RS074602" }, { "coordinates": [ { "allele": "C", "end": 612, "referenceAllele": "C", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722539.2:c.483C=" ], "proteinEffect": { "hgvs": "XP_006722602.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS074603" }, { "coordinates": [ { "allele": "C", "end": 612, "referenceAllele": "C", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722540.2:c.483C=" ], "proteinEffect": { "hgvs": "XP_006722603.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS074604" }, { "coordinates": [ { "allele": "C", "end": 1236, "referenceAllele": "C", "start": 1235 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526154.1:c.1176C=" ], "proteinEffect": { "hgvs": "XP_011524456.1:p.Tyr392=" }, "referenceSequence": "http://reg.genome.network/refseq/RS093261" }, { "coordinates": [ { "allele": "C", "end": 1239, "referenceAllele": "C", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526155.1:c.1179C=" ], "proteinEffect": { "hgvs": "XP_011524457.1:p.Tyr393=" }, "referenceSequence": "http://reg.genome.network/refseq/RS093262" }, { "coordinates": [ { "allele": "C", "end": 1239, "referenceAllele": "C", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526156.1:c.1179C=" ], "proteinEffect": { "hgvs": "XP_011524458.1:p.Tyr393=" }, "referenceSequence": "http://reg.genome.network/refseq/RS093263" }, { "coordinates": [ { "allele": "C", "end": 1236, "referenceAllele": "C", "start": 1235 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526157.1:c.1176C=" ], "proteinEffect": { "hgvs": "XP_011524459.1:p.Tyr392=" }, "referenceSequence": "http://reg.genome.network/refseq/RS093264" }, { "coordinates": [ { "allele": "C", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526158.1:c.867C=" ], "proteinEffect": { "hgvs": "XP_011524460.1:p.Tyr289=" }, "referenceSequence": "http://reg.genome.network/refseq/RS093265" }, { "coordinates": [ { "allele": "C", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526159.1:c.483C=" ], "proteinEffect": { "hgvs": "XP_011524461.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS093266" }, { "coordinates": [ { "allele": "C", "end": 1024, "referenceAllele": "C", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526160.1:c.483C=" ], "proteinEffect": { "hgvs": "XP_011524462.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS093267" }, { "coordinates": [ { "allele": "C", "end": 685, "referenceAllele": "C", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526161.1:c.483C=" ], "proteinEffect": { "hgvs": "XP_011524463.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS093268" }, { "coordinates": [ { "allele": "C", "end": 702, "referenceAllele": "C", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526162.1:c.483C=" ], "proteinEffect": { "hgvs": "XP_011524464.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS093269" }, { "coordinates": [ { "allele": "C", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526163.1:c.483C=" ], "proteinEffect": { "hgvs": "XP_011524465.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS093270" }, { "coordinates": [ { "allele": "C", "end": 685, "referenceAllele": "C", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526164.1:c.483C=" ], "proteinEffect": { "hgvs": "XP_011524466.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS093271" }, { "coordinates": [ { "allele": "C", "end": 1485, "referenceAllele": "C", "start": 1484 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001330604.2:c.873C=" ], "proteinEffect": { "hgvs": "NP_001317533.1:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS516949" }, { "coordinates": [ { "allele": "C", "end": 902, "referenceAllele": "C", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001330605.2:c.483C=" ], "proteinEffect": { "hgvs": "NP_001317534.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS516950" }, { "coordinates": [ { "allele": "C", "end": 919, "referenceAllele": "C", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348211.1:c.747C=" ], "proteinEffect": { "hgvs": "NP_001335140.1:p.Tyr249=" }, "referenceSequence": "http://reg.genome.network/refseq/RS518066" }, { "coordinates": [ { "allele": "C", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348212.1:c.483C=" ], "proteinEffect": { "hgvs": "NP_001335141.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS518067" }, { "coordinates": [ { "allele": "C", "end": 870, "referenceAllele": "C", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348213.1:c.483C=" ], "proteinEffect": { "hgvs": "NP_001335142.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS518068" }, { "coordinates": [ { "allele": "C", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348214.1:c.393C=" ], "proteinEffect": { "hgvs": "NP_001335143.1:p.Tyr131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS518069" }, { "coordinates": [ { "allele": "C", "end": 468, "referenceAllele": "C", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348215.1:c.225C=" ], "proteinEffect": { "hgvs": "NP_001335144.1:p.Tyr75=" }, "referenceSequence": "http://reg.genome.network/refseq/RS518070" }, { "coordinates": [ { "allele": "C", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348216.1:c.393C=" ], "proteinEffect": { "hgvs": "NP_001335145.1:p.Tyr131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS518071" }, { "coordinates": [ { "allele": "C", "end": 1110, "referenceAllele": "C", "start": 1109 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348217.1:c.801C=" ], "proteinEffect": { "hgvs": "NP_001335146.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS518072" }, { "coordinates": [ { "allele": "C", "end": 948, "referenceAllele": "C", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348218.1:c.801C=" ], "proteinEffect": { "hgvs": "NP_001335147.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS518073" }, { "coordinates": [ { "allele": "C", "end": 948, "referenceAllele": "C", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348219.1:c.801C=" ], "proteinEffect": { "hgvs": "NP_001335148.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS518074" }, { "coordinates": [ { "allele": "C", "end": 1107, "referenceAllele": "C", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348220.1:c.798C=" ], "proteinEffect": { "hgvs": "NP_001335149.1:p.Tyr266=" }, "referenceSequence": "http://reg.genome.network/refseq/RS518075" }, { "coordinates": [ { "allele": "C", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266739.4:c.801C=" ], "proteinEffect": { "hgvs": "XP_005266796.2:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS536280" }, { "coordinates": [ { "allele": "C", "end": 1085, "referenceAllele": "C", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266741.4:c.870C=" ], "proteinEffect": { "hgvs": "XP_005266798.1:p.Tyr290=" }, "referenceSequence": "http://reg.genome.network/refseq/RS536281" }, { "coordinates": [ { "allele": "C", "end": 929, "referenceAllele": "C", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266745.4:c.798C=" ], "proteinEffect": { "hgvs": "XP_005266802.1:p.Tyr266=" }, "referenceSequence": "http://reg.genome.network/refseq/RS536282" }, { "coordinates": [ { "allele": "C", "end": 713, "referenceAllele": "C", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266749.4:c.663C=" ], "proteinEffect": { "hgvs": "XP_005266806.1:p.Tyr221=" }, "referenceSequence": "http://reg.genome.network/refseq/RS536283" }, { "coordinates": [ { "allele": "C", "end": 1284, "referenceAllele": "C", "start": 1283 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266752.5:c.483C=" ], "proteinEffect": { "hgvs": "XP_005266809.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS536284" }, { "coordinates": [ { "allele": "C", "end": 741, "referenceAllele": "C", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266755.5:c.483C=" ], "proteinEffect": { "hgvs": "XP_005266812.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS536285" }, { "coordinates": [ { "allele": "C", "end": 1074, "referenceAllele": "C", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266761.4:c.393C=" ], "proteinEffect": { "hgvs": "XP_005266818.1:p.Tyr131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS536286" }, { "coordinates": [ { "allele": "C", "end": 1402, "referenceAllele": "C", "start": 1401 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722536.3:c.873C=" ], "proteinEffect": { "hgvs": "XP_006722599.1:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS540562" }, { "coordinates": [ { "allele": "C", "end": 1041, "referenceAllele": "C", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722537.3:c.873C=" ], "proteinEffect": { "hgvs": "XP_006722600.1:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS540563" }, { "coordinates": [ { "allele": "C", "end": 1063, "referenceAllele": "C", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722538.3:c.798C=" ], "proteinEffect": { "hgvs": "XP_006722601.1:p.Tyr266=" }, "referenceSequence": "http://reg.genome.network/refseq/RS540564" }, { "coordinates": [ { "allele": "C", "end": 1122, "referenceAllele": "C", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025934.2:c.798C=" ], "proteinEffect": { "hgvs": "XP_016881423.1:p.Tyr266=" }, "referenceSequence": "http://reg.genome.network/refseq/RS576166" }, { "coordinates": [ { "allele": "C", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025935.2:c.801C=" ], "proteinEffect": { "hgvs": "XP_016881424.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS576167" }, { "coordinates": [ { "allele": "C", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025936.2:c.801C=" ], "proteinEffect": { "hgvs": "XP_016881425.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS576168" }, { "coordinates": [ { "allele": "C", "end": 879, "referenceAllele": "C", "start": 878 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025937.2:c.798C=" ], "proteinEffect": { "hgvs": "XP_016881426.1:p.Tyr266=" }, "referenceSequence": "http://reg.genome.network/refseq/RS576169" }, { "coordinates": [ { "allele": "C", "end": 1038, "referenceAllele": "C", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025938.2:c.870C=" ], "proteinEffect": { "hgvs": "XP_016881427.1:p.Tyr290=" }, "referenceSequence": "http://reg.genome.network/refseq/RS576170" }, { "coordinates": [ { "allele": "C", "end": 1402, "referenceAllele": "C", "start": 1401 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025940.2:c.873C=" ], "proteinEffect": { "hgvs": "XP_016881429.1:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS576171" }, { "coordinates": [ { "allele": "C", "end": 1041, "referenceAllele": "C", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025941.2:c.873C=" ], "proteinEffect": { "hgvs": "XP_016881430.1:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS576172" }, { "coordinates": [ { "allele": "C", "end": 1085, "referenceAllele": "C", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025942.2:c.870C=" ], "proteinEffect": { "hgvs": "XP_016881431.1:p.Tyr290=" }, "referenceSequence": "http://reg.genome.network/refseq/RS576173" }, { "coordinates": [ { "allele": "C", "end": 1088, "referenceAllele": "C", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025943.2:c.873C=" ], "proteinEffect": { "hgvs": "XP_016881432.1:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS576174" }, { "coordinates": [ { "allele": "C", "end": 1347, "referenceAllele": "C", "start": 1346 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025944.2:c.798C=" ], "proteinEffect": { "hgvs": "XP_016881433.1:p.Tyr266=" }, "referenceSequence": "http://reg.genome.network/refseq/RS576175" }, { "coordinates": [ { "allele": "C", "end": 1350, "referenceAllele": "C", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025945.2:c.801C=" ], "proteinEffect": { "hgvs": "XP_016881434.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS576176" }, { "coordinates": [ { "allele": "C", "end": 1360, "referenceAllele": "C", "start": 1359 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025946.2:c.801C=" ], "proteinEffect": { "hgvs": "XP_016881435.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS576177" }, { "coordinates": [ { "allele": "C", "end": 1347, "referenceAllele": "C", "start": 1346 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025948.2:c.798C=" ], "proteinEffect": { "hgvs": "XP_016881437.1:p.Tyr266=" }, "referenceSequence": "http://reg.genome.network/refseq/RS576178" }, { "coordinates": [ { "allele": "C", "end": 1347, "referenceAllele": "C", "start": 1346 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025950.2:c.798C=" ], "proteinEffect": { "hgvs": "XP_016881439.1:p.Tyr266=" }, "referenceSequence": "http://reg.genome.network/refseq/RS576179" }, { "coordinates": [ { "allele": "C", "end": 922, "referenceAllele": "C", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025951.2:c.747C=" ], "proteinEffect": { "hgvs": "XP_016881440.1:p.Tyr249=" }, "referenceSequence": "http://reg.genome.network/refseq/RS576180" }, { "coordinates": [ { "allele": "C", "end": 936, "referenceAllele": "C", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025952.2:c.660C=" ], "proteinEffect": { "hgvs": "XP_016881441.1:p.Tyr220=" }, "referenceSequence": "http://reg.genome.network/refseq/RS576181" }, { "coordinates": [ { "allele": "C", "end": 713, "referenceAllele": "C", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025953.2:c.663C=" ], "proteinEffect": { "hgvs": "XP_016881442.1:p.Tyr221=" }, "referenceSequence": "http://reg.genome.network/refseq/RS576182" }, { "coordinates": [ { "allele": "C", "end": 1297, "referenceAllele": "C", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025954.2:c.483C=" ], "proteinEffect": { "hgvs": "XP_016881443.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS576183" }, { "coordinates": [ { "allele": "C", "end": 707, "referenceAllele": "C", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025956.2:c.483C=" ], "proteinEffect": { "hgvs": "XP_016881445.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS576184" }, { "coordinates": [ { "allele": "C", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_024451240.1:c.801C=" ], "proteinEffect": { "hgvs": "XP_024307008.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS584759" }, { "coordinates": [ { "allele": "C", "end": 739, "referenceAllele": "C", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_024451241.1:c.636C=" ], "proteinEffect": { "hgvs": "XP_024307009.1:p.Tyr212=" }, "referenceSequence": "http://reg.genome.network/refseq/RS584760" }, { "coordinates": [ { "allele": "C", "end": 1048, "referenceAllele": "C", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001083962.2:c.873C=" ], "proteinEffect": { "hgvs": "NP_001077431.1:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS676369", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354452.8:c.873C=" }, "RefSeq": { "hgvs": "NM_001083962.2:c.873C=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346440.3:p.Tyr291=" }, "RefSeq": { "hgvs": "NP_001077431.1:p.Tyr291=" } } } }, { "@id": "http://reg.genome.network/allele/PA3085600407", "coordinates": [ { "allele": "C", "end": 1239, "referenceAllele": "C", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243226.3:c.1179C=" ], "proteinEffect": { "hgvs": "NP_001230155.2:p.Tyr393=" }, "referenceSequence": "http://reg.genome.network/refseq/RS680199" }, { "coordinates": [ { "allele": "C", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243227.2:c.801C=" ], "proteinEffect": { "hgvs": "NP_001230156.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS680200" }, { "coordinates": [ { "allele": "C", "end": 1426, "referenceAllele": "C", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243228.2:c.891C=" ], "proteinEffect": { "hgvs": "NP_001230157.1:p.Tyr297=" }, "referenceSequence": "http://reg.genome.network/refseq/RS680201" }, { "coordinates": [ { "allele": "C", "end": 922, "referenceAllele": "C", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243231.2:c.747C=" ], "proteinEffect": { "hgvs": "NP_001230160.1:p.Tyr249=" }, "referenceSequence": "http://reg.genome.network/refseq/RS680202" }, { "coordinates": [ { "allele": "C", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243233.2:c.483C=" ], "proteinEffect": { "hgvs": "NP_001230162.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS680203" }, { "coordinates": [ { "allele": "C", "end": 496, "referenceAllele": "C", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243234.2:c.393C=" ], "proteinEffect": { "hgvs": "NP_001230163.1:p.Tyr131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS680204" }, { "coordinates": [ { "allele": "C", "end": 496, "referenceAllele": "C", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243235.2:c.393C=" ], "proteinEffect": { "hgvs": "NP_001230164.1:p.Tyr131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS680205" }, { "coordinates": [ { "allele": "C", "end": 569, "referenceAllele": "C", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243236.2:c.393C=" ], "proteinEffect": { "hgvs": "NP_001230165.1:p.Tyr131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS680206" }, { "coordinates": [ { "allele": "C", "end": 1048, "referenceAllele": "C", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001330604.3:c.873C=" ], "proteinEffect": { "hgvs": "NP_001317533.1:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS687027" }, { "coordinates": [ { "allele": "C", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001330605.3:c.483C=" ], "proteinEffect": { "hgvs": "NP_001317534.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS687028" }, { "coordinates": [ { "allele": "C", "end": 922, "referenceAllele": "C", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348211.2:c.747C=" ], "proteinEffect": { "hgvs": "NP_001335140.1:p.Tyr249=" }, "referenceSequence": "http://reg.genome.network/refseq/RS687607" }, { "coordinates": [ { "allele": "C", "end": 672, "referenceAllele": "C", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348212.2:c.483C=" ], "proteinEffect": { "hgvs": "NP_001335141.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS687608" }, { "coordinates": [ { "allele": "C", "end": 675, "referenceAllele": "C", "start": 674 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348213.2:c.483C=" ], "proteinEffect": { "hgvs": "NP_001335142.1:p.Tyr161=" }, "referenceSequence": "http://reg.genome.network/refseq/RS687609" }, { "coordinates": [ { "allele": "C", "end": 496, "referenceAllele": "C", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348214.2:c.393C=" ], "proteinEffect": { "hgvs": "NP_001335143.1:p.Tyr131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS687610" }, { "coordinates": [ { "allele": "C", "end": 429, "referenceAllele": "C", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348215.2:c.225C=" ], "proteinEffect": { "hgvs": "NP_001335144.1:p.Tyr75=" }, "referenceSequence": "http://reg.genome.network/refseq/RS687611" }, { "coordinates": [ { "allele": "C", "end": 569, "referenceAllele": "C", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348216.2:c.393C=" ], "proteinEffect": { "hgvs": "NP_001335145.1:p.Tyr131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS687612" }, { "coordinates": [ { "allele": "C", "end": 951, "referenceAllele": "C", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348218.2:c.801C=" ], "proteinEffect": { "hgvs": "NP_001335147.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS687613" }, { "coordinates": [ { "allele": "C", "end": 951, "referenceAllele": "C", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348219.2:c.801C=" ], "proteinEffect": { "hgvs": "NP_001335148.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS687614" }, { "coordinates": [ { "allele": "C", "end": 1408, "referenceAllele": "C", "start": 1407 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369567.1:c.873C=" ], "proteinEffect": { "hgvs": "NP_001356496.1:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS691778" }, { "coordinates": [ { "allele": "C", "end": 1041, "referenceAllele": "C", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369568.1:c.873C=" ], "proteinEffect": { "hgvs": "NP_001356497.1:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS691779" }, { "coordinates": [ { "allele": "C", "end": 1038, "referenceAllele": "C", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369569.1:c.870C=" ], "proteinEffect": { "hgvs": "NP_001356498.1:p.Tyr290=" }, "referenceSequence": "http://reg.genome.network/refseq/RS691780" }, { "coordinates": [ { "allele": "C", "end": 1045, "referenceAllele": "C", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369570.1:c.870C=" ], "proteinEffect": { "hgvs": "NP_001356499.1:p.Tyr290=" }, "referenceSequence": "http://reg.genome.network/refseq/RS691781" }, { "coordinates": [ { "allele": "C", "end": 1408, "referenceAllele": "C", "start": 1407 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369571.1:c.873C=" ], "proteinEffect": { "hgvs": "NP_001356500.1:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS691782" }, { "coordinates": [ { "allele": "C", "end": 1041, "referenceAllele": "C", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369572.1:c.873C=" ], "proteinEffect": { "hgvs": "NP_001356501.1:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS691783" }, { "coordinates": [ { "allele": "C", "end": 1045, "referenceAllele": "C", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369573.1:c.870C=" ], "proteinEffect": { "hgvs": "NP_001356502.1:p.Tyr290=" }, "referenceSequence": "http://reg.genome.network/refseq/RS691784" }, { "coordinates": [ { "allele": "C", "end": 1048, "referenceAllele": "C", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369574.1:c.873C=" ], "proteinEffect": { "hgvs": "NP_001356503.1:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS691785" }, { "coordinates": [ { "allele": "C", "end": 956, "referenceAllele": "C", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369575.1:c.801C=" ], "proteinEffect": { "hgvs": "NP_001356504.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS691786" }, { "coordinates": [ { "allele": "C", "end": 1313, "referenceAllele": "C", "start": 1312 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369576.1:c.798C=" ], "proteinEffect": { "hgvs": "NP_001356505.1:p.Tyr266=" }, "referenceSequence": "http://reg.genome.network/refseq/RS691787" }, { "coordinates": [ { "allele": "C", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369577.1:c.801C=" ], "proteinEffect": { "hgvs": "NP_001356506.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS691788" }, { "coordinates": [ { "allele": "C", "end": 953, "referenceAllele": "C", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369578.1:c.798C=" ], "proteinEffect": { "hgvs": "NP_001356507.1:p.Tyr266=" }, "referenceSequence": "http://reg.genome.network/refseq/RS691789" }, { "coordinates": [ { "allele": "C", "end": 956, "referenceAllele": "C", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369579.1:c.801C=" ], "proteinEffect": { "hgvs": "NP_001356508.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS691790" }, { "coordinates": [ { "allele": "C", "end": 951, "referenceAllele": "C", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369580.1:c.801C=" ], "proteinEffect": { "hgvs": "NP_001356509.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS691791" }, { "coordinates": [ { "allele": "C", "end": 948, "referenceAllele": "C", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369581.1:c.798C=" ], "proteinEffect": { "hgvs": "NP_001356510.1:p.Tyr266=" }, "referenceSequence": "http://reg.genome.network/refseq/RS691792" }, { "coordinates": [ { "allele": "C", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369582.1:c.801C=" ], "proteinEffect": { "hgvs": "NP_001356511.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS691793" }, { "coordinates": [ { "allele": "C", "end": 956, "referenceAllele": "C", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369583.1:c.801C=" ], "proteinEffect": { "hgvs": "NP_001356512.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS691794" }, { "coordinates": [ { "allele": "C", "end": 1313, "referenceAllele": "C", "start": 1312 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369584.1:c.798C=" ], "proteinEffect": { "hgvs": "NP_001356513.1:p.Tyr266=" }, "referenceSequence": "http://reg.genome.network/refseq/RS691795" }, { "coordinates": [ { "allele": "C", "end": 953, "referenceAllele": "C", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369585.1:c.798C=" ], "proteinEffect": { "hgvs": "NP_001356514.1:p.Tyr266=" }, "referenceSequence": "http://reg.genome.network/refseq/RS691796" }, { "coordinates": [ { "allele": "C", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369586.1:c.801C=" ], "proteinEffect": { "hgvs": "NP_001356515.1:p.Tyr267=" }, "referenceSequence": "http://reg.genome.network/refseq/RS691797" }, { "coordinates": [ { "allele": "C", "end": 1048, "referenceAllele": "C", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_003199.3:c.873C=" ], "proteinEffect": { "hgvs": "NP_003190.1:p.Tyr291=" }, "referenceSequence": "http://reg.genome.network/refseq/RS695755" }, { "coordinates": [ { "allele": "C", "end": 949, "referenceAllele": "C", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243230.2:c.867C=" ], "proteinEffect": { "hgvs": "NP_001230159.1:p.Tyr289=" }, "referenceSequence": "http://reg.genome.network/refseq/RS714455" } ], "type": "nucleotide" }