{"_id":"chr14:g.73170843G>C","_version":1,"chrom":"14","clingen":{"caid":"CA390302569"},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"A","codon_degeneracy":[0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0],"codonpos":[2,2,2,2,2,2,2,2,2,2,2,2,2,2,2,2,2],"pos":[41,41,41,41,45,41,41,45,41,45,41,45,45,41,41,41,45],"ref":"G","refcodon":["GGC","GGC","GGC","GGC","GGC","GGC","GGC","GGC","GGC","GGC","GGC","GGC","GGC","GGC","GGC","GGC","GGC"]},"alphamissense":{"pred":["B","B","B","B","B","B","B","B","B","B","B","B","B","B","B"],"rankscore":0.19559,"score":[0.0807,0.1038,0.0823,0.0814,0.0789,0.0833,0.0853,0.0861,0.0795,0.0781,0.0801,0.1043,0.0807,0.1058,0.0825]},"alt":"C","altai_neandertal":["G","G"],"ancestral_allele":"G","appris":["alternative1","principal4","alternative1"],"bayesdel":{"add_af":{"pred":"D","rankscore":0.70901,"score":0.167573},"no_af":{"pred":"D","rankscore":0.70526,"score":0.00293081}},"bstatistic":{"converted_rankscore":0.4951,"score":768.0},"cadd":{"phred":18.0,"raw_rankscore":0.29051,"raw_score":2.272887},"cds_strand":["+","+","+","+","+","+","+","+","+","+","+","+","+","+","+","+","+"],"chagyrskaya_neandertal":["G","G"],"chrom":"14","clinpred":{"pred":"T","rankscore":0.05372,"score":0.0492700825872548},"dann":{"rankscore":0.05376,"score":0.5559850698444566},"denisova":["G","G"],"deogen2":{"pred":["T","T","T","T"],"rankscore":0.68677,"score":[0.009905,0.065357,0.315146,0.010184]},"eigen":{"phred_coding":1.227999,"raw_coding":-0.474056320736269,"raw_coding_rankscore":0.22933},"eigen-pc":{"phred_coding":1.479612,"raw_coding":-0.342217415298368,"raw_coding_rankscore":0.26749},"ensembl":{"geneid":["ENSG00000080815","ENSG00000080815","ENSG00000080815","ENSG00000080815","ENSG00000080815","ENSG00000080815","ENSG00000080815","ENSG00000080815","ENSG00000080815","ENSG00000080815","ENSG00000080815","ENSG00000080815","ENSG00000080815","ENSG00000080815","ENSG00000080815","ENSG00000080815","ENSG00000080815"],"proteinid":["ENSP00000451498","ENSP00000451588","ENSP00000452128","ENSP00000450551","ENSP00000451880","ENSP00000451674","ENSP00000452477","ENSP00000377712","ENSP00000350342","ENSP00000326366","ENSP00000453466","ENSP00000450652","ENSP00000451915","ENSP00000451347","ENSP00000377719","ENSP00000452267","ENSP00000451429"],"transcriptid":["ENST00000557356","ENST00000556864","ENST00000556533","ENST00000556951","ENST00000557293","ENST00000553719","ENST00000553599","ENST00000394157","ENST00000357710","ENST00000324501","ENST00000560005","ENST00000555254","ENST00000554131","ENST00000557037","ENST00000394164","ENST00000556066","ENST00000557511"]},"esm1b":{"pred":["T","T","T","T","T"],"rankscore":0.21328,"score":[-3.726,-3.823,-3.835,-3.823,-3.679]},"fathmm":{"converted_rankscore":0.9956,"pred":["D","D","D","D","D","D","D","D","D","D","D","D","D","D"],"score":[-5.33,-3.22,-3.05,-3.38,-5.65,-3.22,-6.18,-6.0,-6.02,-3.93,-5.74,-3.73,-6.0,-5.97]},"fathmm-mkl":{"coding_group":"AEFDGBHI","coding_pred":"D","coding_rankscore":0.51429,"coding_score":0.90335},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.29972,"coding_score":0.172677},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.89359,"score":0.724815},"h1-hesc":{"confidence_value":0,"rankscore":0.63334,"score":0.696144},"huvec":{"confidence_value":0,"rankscore":0.83352,"score":0.714379},"integrated":{"confidence_value":0,"rankscore":0.73137,"score":0.706548}},"gencode_basic":["Y","Y","Y","Y","Y"],"genename":["PSEN1","PSEN1","PSEN1","PSEN1","PSEN1","PSEN1","PSEN1","PSEN1","PSEN1","PSEN1","PSEN1","PSEN1","PSEN1","PSEN1","PSEN1","PSEN1","PSEN1"],"genocanyon":{"rankscore":0.44398,"score":0.999867238249711},"gerp":{"91_mammals":{"rankscore":0.89038,"score":4.91}},"gerp++":{"nr":5.15,"rs":3.26,"rs_rankscore":0.36471},"gmvp":{"rankscore":0.36088,"score":0.3617482884600962},"hg18":{"end":72707304,"start":72707304},"hg19":{"end":73637551,"start":73637551},"hg38":{"end":73170843,"start":73170843},"hgvsc":["c.134G>C","c.122G>C"],"hgvsp":["p.Gly45Ala","p.Gly41Ala","p.G45A","p.G41A"],"list-s2":{"pred":["T","D","T","T","T","T","T","T","T","T","T","D","T","D","T"],"rankscore":0.56255,"score":[0.780122,0.864814,0.777622,0.780122,0.780122,0.777622,0.780122,0.772923,0.777622,0.780122,0.780122,0.864814,0.777622,0.864814,0.772923]},"lrt":{"converted_rankscore":0.21385,"omega":0.482752,"pred":"N","score":0.072841},"m-cap":{"pred":"D","rankscore":0.90797,"score":0.298305},"metalr":{"pred":"D","rankscore":0.95982,"score":0.879},"metarnn":{"pred":["T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T"],"rankscore":0.35674,"score":[0.19743031,0.19743031,0.19743031,0.19743031,0.19743031,0.19743031,0.19743031,0.19743031,0.19743031,0.19743031,0.19743031,0.19743031,0.19743031,0.19743031,0.19743031,0.19743031,0.19743031]},"metasvm":{"pred":"D","rankscore":0.94812,"score":0.8325},"mpc":{"rankscore":0.5287,"score":0.565229065869},"mutationassessor":{"pred":["L","L","L"],"rankscore":0.46772,"score":[1.79,1.79,1.79]},"mutationtaster":{"aae":["G45A","G41A","G45A","G41A","G45A","G45A","G45A"],"converted_rankscore":0.44758,"model":["without_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae"],"pred":["D","N","N","N","N","N","N","N"],"score":[0.998316,0.982015,0.999026,0.982015,0.999026,0.982015,0.982015,0.982015]},"mutformer":{"rankscore":0.98261,"score":0.9970727},"mutpred":{"aa_change":["G45A","G45A","G45A","G45A","G45A","G45A"],"accession":["P49768","P49768","P49768","P49768","P49768","P49768"],"pred":[{"mechanism":"Gain of catalytic residue at P49","p_val":0.0333},{"mechanism":"Gain of catalytic residue at P49","p_val":0.0333},{"mechanism":"Gain of catalytic residue at P49","p_val":0.0333},{"mechanism":"Gain of catalytic residue at P49","p_val":0.0333},{"mechanism":"Gain of catalytic residue at P49","p_val":0.0333},{"mechanism":"Gain of catalytic residue at P49","p_val":0.0333}],"rankscore":0.09259,"score":[0.184,0.184,0.184,0.184,0.184,0.184]},"mvp":{"rankscore":0.86115,"score":[0.862493594167,0.862493594167,0.862493594167,0.862493594167,0.862493594167,0.862493594167,0.862493594167,0.862493594167,0.862493594167,0.862493594167,0.862493594167,0.862493594167,0.862493594167,0.862493594167,0.862493594167,0.862493594167,0.862493594167]},"phactboost":{"rankscore":0.46173,"score":0.136421530100858},"phastcons":{"100way_vertebrate":{"rankscore":0.40164,"score":0.997},"17way_primate":{"rankscore":0.27649,"score":0.439},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.39646,"score":1.919},"17way_primate":{"rankscore":0.7674,"score":0.676},"470way_mammalian":{"rankscore":0.47078,"score":5.06}},"polyphen2":{"hdiv":{"pred":["P","B","B","B"],"rankscore":0.47975,"score":[0.873,0.003,0.012,0.003]},"hvar":{"pred":["B","B","B","B"],"rankscore":0.42698,"score":[0.347,0.023,0.014,0.023]}},"primateai":{"pred":"T","rankscore":0.08772,"score":0.288965404034},"provean":{"converted_rankscore":0.7522,"pred":["N","D","N","N","N","N","N","N","N","N","N","N","N","D","N","D","N"],"score":[-1.42,-3.64,-1.31,-1.07,-1.79,-1.46,-1.31,-1.36,-0.47,-0.57,-1.14,-1.53,-1.88,-4.14,-0.47,-3.97,-0.86]},"ref":"G","reliability_index":10,"revel":{"rankscore":0.79583,"score":[0.52,0.52,0.52,0.52,0.52,0.52,0.52,0.52,0.52,0.52,0.52,0.52,0.52,0.52,0.52,0.52]},"sift":{"converted_rankscore":0.36912,"pred":["T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T"],"score":[0.774,0.062,0.442,0.473,0.151,0.639,0.442,0.302,0.761,0.456,0.395,0.215,0.22,0.064,0.761,0.064,0.361]},"sift4g":{"converted_rankscore":0.36765,"pred":["T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T"],"score":[0.779,0.148,0.639,0.636,0.173,0.738,0.636,0.114,0.796,0.41,0.768,0.172,0.175,0.148,0.796,0.169,0.316]},"siphy_29way":{"logodds_rankscore":0.18666,"logodds_score":5.9862,"pi":{"a":0.4108,"c":0.0,"g":0.5892,"t":0.0}},"tsl":[4,5,5,2,2,2,4,2,1,1,3,3,3,4,1,3,5],"uniprot":[{"acc":"G3V3Z0","entry":"G3V3Z0_HUMAN"},{"acc":"G3V449","entry":"G3V449_HUMAN"},{"acc":"G3V519","entry":"G3V519_HUMAN"},{"acc":"G3V2B1","entry":"G3V2B1_HUMAN"},{"acc":"G3V4M0","entry":"G3V4M0_HUMAN"},{"acc":"G3V499","entry":"G3V499_HUMAN"},{"acc":"G3V2B1","entry":"G3V2B1_HUMAN"},{"acc":"P49768-4","entry":"PSN1_HUMAN"},{"acc":"P49768-2","entry":"PSN1_HUMAN"},{"acc":"P49768","entry":"PSN1_HUMAN"},{"acc":"H0YM52","entry":"H0YM52_HUMAN"},{"acc":"G3V2G7","entry":"G3V2G7_HUMAN"},{"acc":"G3V4P4","entry":"G3V4P4_HUMAN"},{"acc":"G3V3P0","entry":"G3V3P0_HUMAN"},{"acc":"P49768-2","entry":"PSN1_HUMAN"},{"acc":"G3V5B1","entry":"G3V5B1_HUMAN"},{"acc":"P49768-6","entry":"PSN1_HUMAN"}],"varity":{"er":{"rankscore":0.01857,"score":0.031949356},"er_loo":{"rankscore":0.01857,"score":0.031949356},"r":{"rankscore":0.00667,"score":0.020904457},"r_loo":{"rankscore":0.00666,"score":0.020904457}},"vep_canonical":"YES","vest4":{"rankscore":0.25253,"score":[0.189,0.161,0.171,0.161,0.225]},"vindijia_neandertal":["G","G"]},"hg38":{"end":73170843,"start":73170843},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"6090","position":"418"},"cds":{"length":"1404","position":"134"},"effect":"missense_variant","feature_id":"NM_000021.3","feature_type":"transcript","gene_id":"PSEN1","genename":"PSEN1","hgvs_c":"c.134G>C","hgvs_p":"p.Gly45Ala","protein":{"length":"467","position":"45"},"putative_impact":"MODERATE","rank":"4","total":"12","transcript_biotype":"protein_coding"},{"cdna":{"length":"6078","position":"406"},"cds":{"length":"1392","position":"122"},"effect":"missense_variant","feature_id":"NM_007318.2","feature_type":"transcript","gene_id":"PSEN1","genename":"PSEN1","hgvs_c":"c.122G>C","hgvs_p":"p.Gly41Ala","protein":{"length":"463","position":"41"},"putative_impact":"MODERATE","rank":"4","total":"12","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"C","position":"73170843","ref":"G"}}