{"_id":"chr2:g.179644743G>C","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"C","anc":"G","annotype":["CodingTranscript","Intergenic"],"bstatistic":5,"chmm":{"bivflnk":0.0,"enh":0.024,"enhbiv":0.0,"het":0.0,"quies":0.567,"reprpc":0.0,"reprpcwk":0.079,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.055,"txflnk":0.0,"txwk":0.276,"znfrpts":0.0},"chrom":2,"consdetail":["missense","downstream"],"consequence":["NON_SYNONYMOUS","DOWNSTREAM"],"consscore":[7,1],"cpg":0.0,"dna":{"helt":-0.86,"mgw":0.57,"prot":-2.24,"roll":7.37},"dst2splice":17,"dst2spltype":"DONOR","encode":{"exp":25.59,"h3k27ac":2.0,"h3k4me1":3.0,"h3k4me3":2.0,"nucleo":0.5},"exon":"22/363","fitcons":0.723164,"gc":0.3,"gene":[{"ccds_id":"CCDS59435.1","cds":{"cdna_pos":3938,"cds_pos":3713,"rel_cdna_pos":0.04,"rel_cds_pos":0.03},"feature_id":"ENST00000589042","gene_id":"ENSG00000155657","genename":"TTN","prot":{"domain":"ndomain","protpos":1238,"rel_prot_pos":0.03}},{"feature_id":"ENST00000582038","gene_id":"ENSG00000266413","genename":"RP11-88L24.4"}],"gerp":{"n":5.88,"rs":844.6,"rs_pval":1.65095e-93,"s":5.88},"grantham":58,"isderived":"TRUE","isknownvariant":"FALSE","istv":"TRUE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":53,"min_dist_tss":3090,"mutindex":6,"naa":"S","oaa":"T","phast_cons":{"mammalian":0.999,"primate":0.845,"vertebrate":1.0},"phred":18.24,"phylop":{"mammalian":2.776,"primate":0.645,"vertebrate":4.953},"pos":179644743,"rawscore":2.311068,"ref":"G","segway":"GE0","type":"SNV"},"chrom":"2","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"S","codon_degeneracy":[0,0,0,0,0,0,0,0],"codonpos":[2,2,2,2,2,2,2,2],"pos":[1238,1192,1238,1238,1192,1192,1238,1238],"ref":"T","refcodon":["ACT","ACT","ACT","ACT","ACT","ACT","ACT","ACT"]},"alphamissense":{"pred":"B","rankscore":0.14385,"score":0.0938},"alt":"C","altai_neandertal":["G","G"],"ancestral_allele":"G","appris":["principal3","alternative2","alternative2","alternative2"],"bayesdel":{"add_af":{"pred":"T","rankscore":0.26182,"score":-0.163769},"no_af":{"pred":"T","rankscore":0.25191,"score":-0.473019}},"bstatistic":{"converted_rankscore":0.85375,"score":352.0},"chagyrskaya_neandertal":["G","G"],"chrom":"2","clinpred":{"pred":"T","rankscore":0.23898,"score":0.273541677994802},"dann":{"rankscore":0.20247,"score":0.9099727492331804},"denisova":["G","G"],"eigen":{"phred_coding":2.684414,"raw_coding":0.0475124548116243,"raw_coding_rankscore":0.44027},"eigen-pc":{"phred_coding":3.558102,"raw_coding":0.272037692696808,"raw_coding_rankscore":0.53912},"ensembl":{"geneid":["ENSG00000155657","ENSG00000155657","ENSG00000155657","ENSG00000155657","ENSG00000155657","ENSG00000155657","ENSG00000155657","ENSG00000155657"],"proteinid":["ENSP00000343764","ENSP00000434586","ENSP00000467141","ENSP00000465570","ENSP00000352154","ENSP00000340554","ENSP00000483597","ENSP00000354117"],"transcriptid":["ENST00000342992","ENST00000460472","ENST00000589042","ENST00000591111","ENST00000359218","ENST00000342175","ENST00000615779","ENST00000360870"]},"esm1b":{"pred":["T","T","T","T","T","T"],"rankscore":0.18495,"score":[-3.567,-3.644,-3.567,-3.644,-3.567,-3.567]},"exac":{"ac":1,"adj_ac":1,"adj_af":8.253e-6,"af":8.237e-6,"afr":{"ac":0,"af":0.0},"amr":{"ac":0,"af":0.0},"eas":{"ac":0,"af":0.0},"fin":{"ac":0,"af":0.0},"nfe":{"ac":1,"af":0.00001501},"sas":{"ac":0,"af":0.0}},"exac_nontcga":{"ac":1,"adj_ac":1,"adj_af":9.435e-6,"af":9.416e-6,"afr":{"ac":0,"af":0.0},"amr":{"ac":0,"af":0.0},"eas":{"ac":0,"af":0.0},"fin":{"ac":0,"af":0.0},"nfe":{"ac":1,"af":0.00001843},"sas":{"ac":0,"af":0.0}},"fathmm":{"converted_rankscore":0.63403,"pred":["T","T","T","T","T","T","T"],"score":[-0.05,0.17,-0.03,-0.03,0.14,0.15,0.41]},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.84224,"coding_score":0.98571},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.78735,"coding_score":0.867543},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.14657,"score":0.547309},"h1-hesc":{"confidence_value":0,"rankscore":0.12158,"score":0.54472},"huvec":{"confidence_value":0,"rankscore":0.36253,"score":0.586402},"integrated":{"confidence_value":0,"rankscore":0.20929,"score":0.516011}},"gencode_basic":["Y","Y","Y","Y","Y","Y","Y","Y"],"genename":["TTN","TTN","TTN","TTN","TTN","TTN","TTN","TTN"],"genocanyon":{"rankscore":0.74766,"score":0.999999657447545},"gerp":{"91_mammals":{"rankscore":0.97899,"score":6.09}},"gerp++":{"nr":5.88,"rs":5.88,"rs_rankscore":0.94564},"hg18":{"end":179352988,"start":179352988},"hg19":{"end":179644743,"start":179644743},"hg38":{"end":178780016,"start":178780016},"hgvsc":["c.3713C>G","c.3575C>G"],"hgvsp":["p.Thr1238Ser","p.T1192S","p.T1238S","p.Thr1192Ser"],"list-s2":{"pred":["T","T","T","T","T","T","T"],"rankscore":0.34274,"score":[0.716128,0.707329,0.70163,0.726827,0.707329,0.728227,0.711029]},"m-cap":{"pred":"D","rankscore":0.86873,"score":0.203381},"metalr":{"pred":"T","rankscore":0.48464,"score":0.1542},"metarnn":{"pred":["T","T","T","T","T","T","T","T"],"rankscore":0.42989,"score":[0.2559179,0.2559179,0.2559179,0.2559179,0.2559179,0.2559179,0.25591803,0.25591803]},"metasvm":{"pred":"T","rankscore":0.51809,"score":-0.8523},"mpc":{"rankscore":0.08607,"score":0.0766498594561},"mutationtaster":{"aae":["T1238S","T1238S","T1192S","T1238S","T1238S","T1192S","T1192S"],"converted_rankscore":0.35375,"model":["simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae"],"pred":["D","N","N","N","N","N","N"],"score":[0.860268,0.93035,0.978835,0.978835,0.978835,0.978835,0.978835]},"mutformer":{"rankscore":0.43321,"score":0.01171048},"mutpred":{"aa_change":["T1238S","T1238S","T1238S","T1238S","T1238S"],"accession":["Q8WZ42","Q8WZ42","Q8WZ42","Q8WZ42","Q8WZ42"],"pred":[{"mechanism":"Gain of phosphorylation at T1238","p_val":0.0738},{"mechanism":"Gain of phosphorylation at T1238","p_val":0.0738},{"mechanism":"Gain of phosphorylation at T1238","p_val":0.0738},{"mechanism":"Gain of phosphorylation at T1238","p_val":0.0738},{"mechanism":"Gain of phosphorylation at T1238","p_val":0.0738}],"rankscore":0.27967,"score":[0.308,0.308,0.308,0.308,0.308]},"mvp":{"rankscore":0.22615,"score":[0.229924730088,0.229924730088,0.229924730088,0.229924730088,0.229924730088,0.229924730088,0.229924730088,0.229924730088]},"phactboost":{"rankscore":0.11112,"score":[0.00139842841030272,0.00139842841030272]},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.58702,"score":0.981},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.64357,"score":5.094},"17way_primate":{"rankscore":0.7674,"score":0.676}},"polyphen2":{"hdiv":{"pred":["B","B","B"],"rankscore":0.32836,"score":[0.003,0.003,0.312]},"hvar":{"pred":["B","B","B"],"rankscore":0.27215,"score":[0.008,0.008,0.064]}},"primateai":{"pred":"T","rankscore":0.3369,"score":0.46275806427},"provean":{"converted_rankscore":0.50337,"pred":["N","N","N","N","N"],"score":[-1.67,-1.81,-1.81,-1.81,-2.25]},"ref":"G","reliability_index":9,"revel":{"rankscore":0.43662,"score":[0.172,0.172,0.172,0.172,0.172]},"rsid":"rs147020824","sift":{"converted_rankscore":0.13175,"pred":["T","T","T","T","T"],"score":[0.509,0.611,0.541,0.597,0.329]},"sift4g":{"converted_rankscore":0.21078,"pred":"T","score":0.289},"siphy_29way":{"logodds_rankscore":0.98365,"logodds_score":20.2381,"pi":{"a":0.0,"c":0.0,"g":1.0,"t":0.0}},"tsl":[5,5,5,5,5,5,5,5],"uniprot":[{"acc":"Q8WZ42-11","entry":"TITIN_HUMAN"},{"acc":"Q8WZ42-3","entry":"TITIN_HUMAN"},{"acc":"A0A0A0MTS7","entry":"A0A0A0MTS7_HUMAN"},{"acc":"Q8WZ42","entry":"TITIN_HUMAN"},{"acc":"Q8WZ42-10","entry":"TITIN_HUMAN"},{"acc":"A0A0A0MRA3","entry":"A0A0A0MRA3_HUMAN"},{"acc":"Q8WZ42","entry":"TITIN_HUMAN"},{"acc":"Q8WZ42-6","entry":"TITIN_HUMAN"}],"vep_canonical":"YES","vest4":{"rankscore":0.26233,"score":[0.129,0.132,0.109,0.151,0.132,0.102,0.147,0.233]},"vindijia_neandertal":["G","G"]},"dbsnp":{"_license":"http://bit.ly/2AqoLOc","alleles":[{"allele":"G","freq":{"dbgap_popfreq":1.0,"gnomad":1.0,"goesp":1.0}},{"allele":"A","freq":{"dbgap_popfreq":0.0}},{"allele":"T","freq":{"dbgap_popfreq":0.0,"gnomad":0.0,"goesp":0.0}}],"alt":"C","chrom":"2","dbsnp_build":156,"gene":[{"geneid":7273,"is_pseudo":false,"name":"titin","rnas":[{"codon_aligned_transcript_change":{"deleted_sequence":"ACT","inserted_sequence":"ACT","position":3936,"seq_id":"NM_001256850.1"},"hgvs":"NM_001256850.1:c.3713=","protein":{"variant":{"spdi":{"deleted_sequence":"T","inserted_sequence":"T","position":1237,"seq_id":"NP_001243779.1"}}},"protein_product":{"refseq":"NP_001243779.1"},"refseq":"NM_001256850.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"ACT","inserted_sequence":"ACT","position":3936,"seq_id":"NM_001267550.2"},"hgvs":"NM_001267550.2:c.3713=","protein":{"variant":{"spdi":{"deleted_sequence":"T","inserted_sequence":"T","position":1237,"seq_id":"NP_001254479.2"}}},"protein_product":{"refseq":"NP_001254479.2"},"refseq":"NM_001267550.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"ACT","inserted_sequence":"ACT","position":3798,"seq_id":"NM_003319.4"},"hgvs":"NM_003319.4:c.3575=","protein":{"variant":{"spdi":{"deleted_sequence":"T","inserted_sequence":"T","position":1191,"seq_id":"NP_003310.4"}}},"protein_product":{"refseq":"NP_003310.4"},"refseq":"NM_003319.4","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"ACT","inserted_sequence":"ACT","position":3936,"seq_id":"NM_133378.4"},"hgvs":"NM_133378.4:c.3713=","protein":{"variant":{"spdi":{"deleted_sequence":"T","inserted_sequence":"T","position":1237,"seq_id":"NP_596869.4"}}},"protein_product":{"refseq":"NP_596869.4"},"refseq":"NM_133378.4","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"ACT","inserted_sequence":"ACT","position":3936,"seq_id":"NM_133379.5"},"hgvs":"NM_133379.5:c.3713=","protein":{"variant":{"spdi":{"deleted_sequence":"T","inserted_sequence":"T","position":1237,"seq_id":"NP_596870.2"}}},"protein_product":{"refseq":"NP_596870.2"},"refseq":"NM_133379.5","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"ACT","inserted_sequence":"ACT","position":3798,"seq_id":"NM_133432.3"},"hgvs":"NM_133432.3:c.3575=","protein":{"variant":{"spdi":{"deleted_sequence":"T","inserted_sequence":"T","position":1191,"seq_id":"NP_597676.3"}}},"protein_product":{"refseq":"NP_597676.3"},"refseq":"NM_133432.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"ACT","inserted_sequence":"ACT","position":3798,"seq_id":"NM_133437.4"},"hgvs":"NM_133437.4:c.3575=","protein":{"variant":{"spdi":{"deleted_sequence":"T","inserted_sequence":"T","position":1191,"seq_id":"NP_597681.4"}}},"protein_product":{"refseq":"NP_597681.4"},"refseq":"NM_133437.4","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"ACT","inserted_sequence":"ACT","position":3939,"seq_id":"XM_017004819.1"},"hgvs":"XM_017004819.1:c.3716=","protein":{"variant":{"spdi":{"deleted_sequence":"T","inserted_sequence":"T","position":1238,"seq_id":"XP_016860308.1"}}},"protein_product":{"refseq":"XP_016860308.1"},"refseq":"XM_017004819.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"ACT","inserted_sequence":"ACT","position":3939,"seq_id":"XM_017004820.1"},"hgvs":"XM_017004820.1:c.3716=","protein":{"variant":{"spdi":{"deleted_sequence":"T","inserted_sequence":"T","position":1238,"seq_id":"XP_016860309.1"}}},"protein_product":{"refseq":"XP_016860309.1"},"refseq":"XM_017004820.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"ACT","inserted_sequence":"ACT","position":3936,"seq_id":"XM_017004821.1"},"hgvs":"XM_017004821.1:c.3713=","protein":{"variant":{"spdi":{"deleted_sequence":"T","inserted_sequence":"T","position":1237,"seq_id":"XP_016860310.1"}}},"protein_product":{"refseq":"XP_016860310.1"},"refseq":"XM_017004821.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"ACT","inserted_sequence":"ACT","position":3939,"seq_id":"XM_017004822.1"},"hgvs":"XM_017004822.1:c.3716=","protein":{"variant":{"spdi":{"deleted_sequence":"T","inserted_sequence":"T","position":1238,"seq_id":"XP_016860311.1"}}},"protein_product":{"refseq":"XP_016860311.1"},"refseq":"XM_017004822.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"ACT","inserted_sequence":"ACT","position":3939,"seq_id":"XM_017004823.1"},"hgvs":"XM_017004823.1:c.3716=","protein":{"variant":{"spdi":{"deleted_sequence":"T","inserted_sequence":"T","position":1238,"seq_id":"XP_016860312.1"}}},"protein_product":{"refseq":"XP_016860312.1"},"refseq":"XM_017004823.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"ACT","inserted_sequence":"ACT","position":3939,"seq_id":"XM_024453095.1"},"hgvs":"XM_024453095.1:c.3716=","protein":{"variant":{"spdi":{"deleted_sequence":"T","inserted_sequence":"T","position":1238,"seq_id":"XP_024308863.1"}}},"protein_product":{"refseq":"XP_024308863.1"},"refseq":"XM_024453095.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"ACT","inserted_sequence":"ACT","position":3939,"seq_id":"XM_024453097.1"},"hgvs":"XM_024453097.1:c.3716=","protein":{"variant":{"spdi":{"deleted_sequence":"T","inserted_sequence":"T","position":1238,"seq_id":"XP_024308865.1"}}},"protein_product":{"refseq":"XP_024308865.1"},"refseq":"XM_024453097.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"ACT","inserted_sequence":"ACT","position":3939,"seq_id":"XM_024453098.1"},"hgvs":"XM_024453098.1:c.3716=","protein":{"variant":{"spdi":{"deleted_sequence":"T","inserted_sequence":"T","position":1238,"seq_id":"XP_024308866.1"}}},"protein_product":{"refseq":"XP_024308866.1"},"refseq":"XM_024453098.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"ACT","inserted_sequence":"ACT","position":3939,"seq_id":"XM_024453099.1"},"hgvs":"XM_024453099.1:c.3716=","protein":{"variant":{"spdi":{"deleted_sequence":"T","inserted_sequence":"T","position":1238,"seq_id":"XP_024308867.1"}}},"protein_product":{"refseq":"XP_024308867.1"},"refseq":"XM_024453099.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"protein_product":{"refseq":"XP_024308868.1"},"refseq":"XM_024453100.2","so":[{"accession":"SO:0002153","name":"genic_upstream_transcript_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"ACT","inserted_sequence":"ACT","position":3939,"seq_id":"XM_047445660.1"},"hgvs":"XM_047445660.1:c.3716=","protein":{"variant":{"spdi":{"deleted_sequence":"T","inserted_sequence":"T","position":1238,"seq_id":"XP_047301616.1"}}},"protein_product":{"refseq":"XP_047301616.1"},"refseq":"XM_047445660.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"ACT","inserted_sequence":"ACT","position":3939,"seq_id":"XM_047445661.1"},"hgvs":"XM_047445661.1:c.3716=","protein":{"variant":{"spdi":{"deleted_sequence":"T","inserted_sequence":"T","position":1238,"seq_id":"XP_047301617.1"}}},"protein_product":{"refseq":"XP_047301617.1"},"refseq":"XM_047445661.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"ACT","inserted_sequence":"ACT","position":3939,"seq_id":"XM_047445663.1"},"hgvs":"XM_047445663.1:c.3716=","protein":{"variant":{"spdi":{"deleted_sequence":"T","inserted_sequence":"T","position":1238,"seq_id":"XP_047301619.1"}}},"protein_product":{"refseq":"XP_047301619.1"},"refseq":"XM_047445663.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"ACT","inserted_sequence":"ACT","position":3939,"seq_id":"XM_047445665.1"},"hgvs":"XM_047445665.1:c.3716=","protein":{"variant":{"spdi":{"deleted_sequence":"T","inserted_sequence":"T","position":1238,"seq_id":"XP_047301621.1"}}},"protein_product":{"refseq":"XP_047301621.1"},"refseq":"XM_047445665.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"ACT","inserted_sequence":"ACT","position":3939,"seq_id":"XM_047445668.1"},"hgvs":"XM_047445668.1:c.3716=","protein":{"variant":{"spdi":{"deleted_sequence":"T","inserted_sequence":"T","position":1238,"seq_id":"XP_047301624.1"}}},"protein_product":{"refseq":"XP_047301624.1"},"refseq":"XM_047445668.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]}],"strand":"-","symbol":"TTN"},{"geneid":101927055,"is_pseudo":false,"name":"uncharacterized LOC101927055","rnas":[{"refseq":"NR_120594.1","so":[{"accession":"SO:0001987","name":"downstream_transcript_variant"}]}],"so":[{"accession":"SO:0001634","name":"500B_downstream_variant"}],"strand":"+","symbol":"LOC101927055"}],"hg19":{"end":179644743,"start":179644743},"ref":"G","rsid":"rs147020824","vartype":"snv"},"exac":{"_license":"http://bit.ly/2H9c4hg","ac":{"ac":1,"ac_adj":1,"ac_afr":0,"ac_amr":0,"ac_eas":0,"ac_female":1,"ac_fin":0,"ac_het":1,"ac_hom":0,"ac_male":0,"ac_nfe":1,"ac_oth":0,"ac_sas":0},"af":8.237e-6,"alleles":["T","C"],"alt":"C","an":{"an":121404,"an_adj":121168,"an_afr":10380,"an_amr":11544,"an_eas":8600,"an_female":53996,"an_fin":6602,"an_male":67172,"an_nfe":66642,"an_oth":900,"an_sas":16500},"baseqranksum":-2.642,"chrom":2,"clippingranksum":0.263,"culprit":"MQ","fs":0.431,"het":{"het_afr":[2,0,0],"het_amr":[1,0,0],"het_eas":[0,0,0],"het_fin":[0,0,0],"het_nfe":[0,1,0],"het_oth":[0,0,0],"het_sas":[0,0,0]},"hom":{"hom_afr":[0,0],"hom_amr":[0,0],"hom_eas":[0,0],"hom_fin":[0,0],"hom_nfe":[0,0],"hom_oth":[0,0],"hom_sas":[0,0]},"inbreedingcoeff":0.001,"mq":{"mq":58.92,"mq0":0,"mqranksum":0.084},"multi-allelic":["chr2:g.179644743G>T","chr2:g.179644743G>C"],"ncc":12,"pos":179644743,"qd":10.63,"readposranksum":0.146,"ref":"G","type":"snp","vqslod":0.903},"exac_nontcga":{"_license":"http://bit.ly/2H9c4hg","ac":{"ac":1,"ac_adj":1,"ac_afr":0,"ac_amr":0,"ac_eas":0,"ac_female":1,"ac_fin":0,"ac_het":1,"ac_hom":0,"ac_male":0,"ac_nfe":1,"ac_oth":0,"ac_sas":0},"af":9.416e-6,"alleles":["T","C"],"alt":"C","an":{"an":106202,"an_adj":105984,"an_afr":9040,"an_amr":11184,"an_eas":7812,"an_female":45752,"an_fin":6602,"an_male":60232,"an_nfe":54260,"an_oth":690,"an_sas":16396},"baseqranksum":-2.642,"chrom":2,"clippingranksum":0.263,"culprit":"MQ","fs":0.431,"het":{"het_afr":[1,0,0],"het_amr":[1,0,0],"het_eas":[0,0,0],"het_fin":[0,0,0],"het_nfe":[0,1,0],"het_oth":[0,0,0],"het_sas":[0,0,0]},"hom":{"hom_afr":[0,0],"hom_amr":[0,0],"hom_eas":[0,0],"hom_fin":[0,0],"hom_nfe":[0,0],"hom_oth":[0,0],"hom_sas":[0,0]},"inbreedingcoeff":0.001,"mq":{"mq":58.92,"mq0":0,"mqranksum":0.084},"multi-allelic":["chr2:g.179644743G>T","chr2:g.179644743G>C"],"ncc":12,"pos":179644743,"qd":10.63,"readposranksum":0.146,"ref":"G","type":"snp","vqslod":0.903},"gnomad_exome":{"_license":"http://bit.ly/2I1cl1I","ac":{"ac":1,"ac_afr":0,"ac_afr_female":0,"ac_afr_male":0,"ac_amr":0,"ac_amr_female":0,"ac_amr_male":0,"ac_asj":0,"ac_asj_female":0,"ac_asj_male":0,"ac_eas":0,"ac_eas_female":0,"ac_eas_jpn":0,"ac_eas_kor":0,"ac_eas_male":0,"ac_eas_oea":0,"ac_female":1,"ac_fin":0,"ac_fin_female":0,"ac_fin_male":0,"ac_male":0,"ac_nfe":1,"ac_nfe_bgr":0,"ac_nfe_est":0,"ac_nfe_female":1,"ac_nfe_male":0,"ac_nfe_nwe":0,"ac_nfe_onf":1,"ac_nfe_seu":0,"ac_nfe_swe":0,"ac_oth":0,"ac_oth_female":0,"ac_oth_male":0,"ac_sas":0,"ac_sas_female":0,"ac_sas_male":0},"af":{"af":3.9873e-6,"af_afr":0.0,"af_afr_female":0.0,"af_afr_male":0.0,"af_amr":0.0,"af_amr_female":0.0,"af_amr_male":0.0,"af_asj":0.0,"af_asj_female":0.0,"af_asj_male":0.0,"af_eas":0.0,"af_eas_female":0.0,"af_eas_jpn":0.0,"af_eas_kor":0.0,"af_eas_male":0.0,"af_eas_oea":0.0,"af_female":8.68086e-6,"af_fin":0.0,"af_fin_female":0.0,"af_fin_male":0.0,"af_male":0.0,"af_nfe":8.83127e-6,"af_nfe_bgr":0.0,"af_nfe_est":0.0,"af_nfe_female":0.0000200586,"af_nfe_male":0.0,"af_nfe_nwe":0.0,"af_nfe_onf":0.0000324507,"af_nfe_seu":0.0,"af_nfe_swe":0.0,"af_oth":0.0,"af_oth_female":0.0,"af_oth_male":0.0,"af_sas":0.0,"af_sas_female":0.0,"af_sas_male":0.0},"alleles":"C","alt":"C","an":{"an":250796,"an_afr":16250,"an_afr_female":10066,"an_afr_male":6184,"an_amr":34558,"an_amr_female":20254,"an_amr_male":14304,"an_asj":10070,"an_asj_female":4896,"an_asj_male":5174,"an_eas":18358,"an_eas_female":9312,"an_eas_jpn":152,"an_eas_kor":3784,"an_eas_male":9046,"an_eas_oea":14422,"an_female":115196,"an_fin":21632,"an_fin_female":10364,"an_fin_male":11268,"an_male":135600,"an_nfe":113234,"an_nfe_bgr":2668,"an_nfe_est":240,"an_nfe_female":49854,"an_nfe_male":63380,"an_nfe_nwe":41916,"an_nfe_onf":30816,"an_nfe_seu":11476,"an_nfe_swe":26118,"an_oth":6100,"an_oth_female":2912,"an_oth_male":3188,"an_sas":30594,"an_sas_female":7538,"an_sas_male":23056},"baseqranksum":-0.707,"chrom":"2","clippingranksum":0.191,"dp":8743224,"fs":0.0,"hom":{"hom":0,"hom_afr":0,"hom_afr_female":0,"hom_afr_male":0,"hom_amr":0,"hom_amr_female":0,"hom_amr_male":0,"hom_asj":0,"hom_asj_female":0,"hom_asj_male":0,"hom_eas":0,"hom_eas_female":0,"hom_eas_jpn":0,"hom_eas_kor":0,"hom_eas_male":0,"hom_eas_oea":0,"hom_female":0,"hom_fin":0,"hom_fin_female":0,"hom_fin_male":0,"hom_male":0,"hom_nfe":0,"hom_nfe_bgr":0,"hom_nfe_est":0,"hom_nfe_female":0,"hom_nfe_male":0,"hom_nfe_nwe":0,"hom_nfe_onf":0,"hom_nfe_seu":0,"hom_nfe_swe":0,"hom_oth":0,"hom_oth_female":0,"hom_oth_male":0,"hom_sas":0,"hom_sas_female":0,"hom_sas_male":0},"inbreedingcoeff":0.0038,"mq":{"mq":60.0,"mqranksum":0.015},"pab_max":0.645497,"pos":179644743,"qd":11.7,"readposranksum":1.03,"ref":"G","rf":0.907305,"rsid":"rs147020824","sor":0.742,"type":"snp","vqslod":2.09,"vqsr_culprit":"MQ"},"hg19":{"end":179644743,"start":179644743},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"109223","position":"3938"},"cds":{"length":"107976","position":"3713"},"effect":"missense_variant","feature_id":"NM_001267550.2","feature_type":"transcript","gene_id":"TTN","genename":"TTN","hgvs_c":"c.3713C>G","hgvs_p":"p.Thr1238Ser","protein":{"length":"35991","position":"1238"},"putative_impact":"MODERATE","rank":"22","total":"363","transcript_biotype":"protein_coding"},{"cdna":{"length":"104300","position":"3938"},"cds":{"length":"103053","position":"3713"},"effect":"missense_variant","feature_id":"NM_001256850.1","feature_type":"transcript","gene_id":"TTN","genename":"TTN","hgvs_c":"c.3713C>G","hgvs_p":"p.Thr1238Ser","protein":{"length":"34350","position":"1238"},"putative_impact":"MODERATE","rank":"22","total":"313","transcript_biotype":"protein_coding"},{"cdna":{"length":"82604","position":"3800"},"cds":{"length":"81357","position":"3575"},"effect":"missense_variant","feature_id":"NM_133437.4","feature_type":"transcript","gene_id":"TTN","genename":"TTN","hgvs_c":"c.3575C>G","hgvs_p":"p.Thr1192Ser","protein":{"length":"27118","position":"1192"},"putative_impact":"MODERATE","rank":"21","total":"192","transcript_biotype":"protein_coding"},{"cdna":{"length":"82027","position":"3800"},"cds":{"length":"80781","position":"3575"},"effect":"missense_variant","feature_id":"NM_003319.4","feature_type":"transcript","gene_id":"TTN","genename":"TTN","hgvs_c":"c.3575C>G","hgvs_p":"p.Thr1192Ser","protein":{"length":"26926","position":"1192"},"putative_impact":"MODERATE","rank":"21","total":"191","transcript_biotype":"protein_coding"},{"cdna":{"length":"101518","position":"3938"},"cds":{"length":"100272","position":"3713"},"effect":"missense_variant","feature_id":"NM_133378.4","feature_type":"transcript","gene_id":"TTN","genename":"TTN","hgvs_c":"c.3713C>G","hgvs_p":"p.Thr1238Ser","protein":{"length":"33423","position":"1238"},"putative_impact":"MODERATE","rank":"22","total":"312","transcript_biotype":"protein_coding"},{"cdna":{"length":"82402","position":"3800"},"cds":{"length":"81156","position":"3575"},"effect":"missense_variant","feature_id":"NM_133432.3","feature_type":"transcript","gene_id":"TTN","genename":"TTN","hgvs_c":"c.3575C>G","hgvs_p":"p.Thr1192Ser","protein":{"length":"27051","position":"1192"},"putative_impact":"MODERATE","rank":"21","total":"192","transcript_biotype":"protein_coding"},{"cdna":{"length":"18216","position":"3938"},"cds":{"length":"16815","position":"3713"},"effect":"missense_variant","feature_id":"NM_133379.4","feature_type":"transcript","gene_id":"TTN","genename":"TTN","hgvs_c":"c.3713C>G","hgvs_p":"p.Thr1238Ser","protein":{"length":"5604","position":"1238"},"putative_impact":"MODERATE","rank":"22","total":"46","transcript_biotype":"protein_coding"},{"distance_to_feature":"53","effect":"downstream_gene_variant","feature_id":"NR_120594.1","feature_type":"transcript","gene_id":"LOC101927055","genename":"LOC101927055","hgvs_c":"n.*53G>C","putative_impact":"MODIFIER","transcript_biotype":"pseudogene"}]},"vcf":{"alt":"C","position":"179644743","ref":"G"}}